Search results for: congenital blindness

Authors: Benlaifa Meriem, Berredjem Hajira, Bouasla Radia, Berredjem Malika, Djebar Med Reda

Abstract:

Toxoplasmosis is a cosmopolitan infection due to Toxoplasma gondii (T.gondii). It is a significant cause of congenital disease and an important opportunistic pathogen which has become a worldwide increasing problem due to the AIDS epidemic. Current available drugs do not give satisfactory results and often have only a static and several adverse side effects as it is the case of pyrimethamine. So, the need to develop and evaluate new drugs is critical. The purpose of this study is to investigate the in vitro and in vivo effects of the new chiral N-acylsulfonamide bis-oxazolidin-2-ones on T.gondii. In this study, anti-T.gondii RH strain activities, of two new chiral N-acylsulfonamide bis-oxazolidin-2-ones were evaluated in vitro, using a MRC-5 fibroblast tissue cultures to determine the concentration that inhibit parasite multiplication by 50% (IC50) of each drug and in vivo, by PCR detection of the tachyzoites in mice ascites after new molecules treatment, using the 35-fold repetitive B1 gene of T.gondii. The in vitro results demonstrated that the treatment with the tested molecules decreased the amount of tachyzoites in cell culture in a dose-dependent manner. The inhibition was complete for concentrations over 4 mg/ml. The IC50 of Mol 1 and Mol 2 were 1.5 and 3 mg/ml, respectively, and were quite similar to the control one (2 mg/ml). The Mol 1 was highly active against T.gondii in cell cultures than Mol 2; these results were similar to those of sulfadiazine-treated group (p < 0.05). Toxoplasma-specific DNA was demonstrated in all ascites samples from infected mice of the different tested groups. Mol 1 showed better effect than Mol 2, but it did not completely inhibit the parasite proliferation. The intensity of amplification products increased when the treatment started late after infection. These findings suggest continuous parasite replication despite the treatment. In conclusion, our results showed a promising treatment effect of the tested molecules and suggest that in vitro, the Mol 1, and Mol 2 have a dose-dependent effect and a high cytotoxicity on the studied cells. The present study revealed that concentration and duration of tested molecules treatment are major factors that influence the course of Toxoplasma infection in infected mice.

Keywords: cytotoxicity, PCR, sulfonamide, Toxoplasma gondii

Procedia PDF Downloads 477

Authors: Antonio Montes, Antonio Cozar, Clara Pereyra, Diego Valor, Enrique Martinez de la Ossa

Abstract:

Tissues and organs can be damaged because of traumatism, congenital illnesses, or cancer and the traditional therapeutic alternatives, such as surgery, cannot usually completely repair the damaged tissues. Tissue engineering allows regeneration of the patient's tissues, reducing the problems caused by the traditional methods. Scaffolds, polymeric structures with interconnected porosity, can be promoted the proliferation and adhesion of the patient’s cells in the damaged area. Furthermore, by means of impregnation of the scaffold with beneficial active substances, tissue regeneration can be induced through a drug delivery process. The objective of the work is the fabrication of a PVA scaffold coated with Gallic Acid and polypyrrole through a one-step foaming and impregnation process using the SSI technique (Supercritical Solvent Impregnation). In this technique, supercritical CO₂ penetrates into the polymer chains producing the plasticization of the polymer. In the depressurization step a CO₂ cellular nucleation and growing to take place to an interconnected porous structure of the polymer. The foaming process using supercritical CO₂ as solvent and expansion agent presents advantages compared to the traditional scaffolds’ fabrication methods, such as the polymer’s high solubility in the solvent or the possibility of carrying out the process at a low temperature, avoiding the inactivation of the active substance. In this sense, the supercritical CO₂ avoids the use of organic solvents and reduces the solvent residues in the final product. Moreover, this process does not require long processing time that could cause the stratification of substance inside the scaffold reducing the therapeutic efficiency of the formulation. An experimental design has been carried out to optimize the SSI technique operating conditions, as well as a study of the morphological characteristics of the scaffold for its use in tissue engineerings, such as porosity, conductivity or the release profiles of the active substance. It has been proved that the obtained scaffolds are partially porous, conductors of electricity and are able to release Gallic Acid in the long term.

Keywords: scaffold, foaming, supercritical, PVA, polypyrrole, gallic acid

Procedia PDF Downloads 156

Authors: Daniel Aberdam

Abstract:

Haploinsufficiency of PAX6 in humans is the main cause of congenital aniridia, a rare eye disease characterized by reduced visual acuity. Patients have also progressive disorders including cataract, glaucoma and corneal abnormalities making their condition very challenging to manage. Aniridia-related keratopathy (ARK), caused by a combination of factors including limbal stem-cell deficiency, impaired healing response, abnormal differentiation, and infiltration of conjunctival cells onto the corneal surface, affects up to 95% of patients. It usually begins in the first decade of life resulting in recurrent corneal erosions, sub-epithelial fibrosis with corneal decompensation and opacification. Unfortunately, current treatment options for aniridia patients are currently limited. Although animal models partially recapitulate this disease, there is no in vitro cellular model of AKT needed for drug/therapeutic tools screening and validation. We used genome editing (CRISPR/Cas9 technology) to introduce a nonsense mutation found in patients into one allele of the PAX6 gene into limbal stem cells. Resulting mutated clones, expressing half of the amount of PAX6 protein and thus representative of haploinsufficiency were further characterized. Sequencing analysis showed that no off-target mutations were induced. The mutated cells displayed reduced cell proliferation and cell migration but enhanced cell adhesion. Known PAX6 targets expression was also reduced. Remarkably, addition of soluble recombinant PAX6 protein into the culture medium was sufficient to activate endogenous PAX6 gene and, as a consequence, rescue the phenotype. It strongly suggests that our in vitro model recapitulates well the epithelial defect and becomes a powerful tool to identify drugs that could rescue the corneal defect in patients. Furthermore, we demonstrate that the homeotic transcription factor Pax6 is able to be uptake naturally by recipient cells to function into the nucleus.

Keywords: Pax6, crispr/cas9, limbal stem cells, aniridia, gene therapy

Procedia PDF Downloads 180

Authors: Merilin Ivanova Ivanova, Kalin Dimitrov Atanasov, Stefan Petrov Enchev

Abstract:

Backgroud: Neuromyelitis optica spectrum disorder, also known as Devic’s disease, is a relapsing demyelinating autoimmune inflammatory disorder of the central nervous system associated with anti-aquaporin 4 (AQP4) antibodies that can manifest with devastating secondary neurological deficits. Most commonly affected are the optic nerves and the spinal cord-clinically this is often presented with optic neuritis (loss of vision), transverse myelitis(weakness or paralysis of extremities),lack of bladder and bowel control, numbness. APS is a core clinical entity of NMOSD and adds to the clinical representation the following symptoms: intractable nausea, vomiting and hiccup, it usually occurs isolated at onset, and can lead to a significant delay in the diagnosis. The condition may have features similar to multiple sclerosis (MS) but the episodes are worse in NMO and it is treated differently. It could be relapsing or monophasic. Possible complications are visual field defects and motor impairment, with potential blindness and irreversible motor deficits. In severe cases, myogenic respiratory failure ensues. The incidence of reported cases is approximately 0.3–4.4 per 100,000. Paediatric cases of NMOSD are rare but have been reported occasionally, comprising less than 5% of the reported cases. Objective: The case serves to show the difficulty when it comes to the diagnostic processes regarding a rare autoimmune disease with non- specific symptoms, taking large interval of rimes to reveal as complete clinical manifestation of the aforementioned syndrome, as well as the necessity of multidisciplinary approach in the setting of а general paediatric department in аn emergency hospital. Methods: itpatient's history, clinical presentation, and information from the used diagnostic tools(MRI with contrast of the central nervous system) lead us to the conclusion .This was later on confirmed by the positive results from the anti-aquaporin 4 (AQP4) antibody serology test. Conclusion: APS is a common symptom of NMOSD and is considered a challenge in a differential-diagnostic plan. Gaining an increased awareness of this disease/syndrome, obtaining a detailed patient history, and performing thorough physical examinations are essential if we are to reduce and avoid misdiagnosis.

Keywords: neuromyelitis, devic's disease, hiccup, autoimmune, MRI

Procedia PDF Downloads 21

Authors: Reema K. AlEssa, Sahar Alshomer, Abdullah Alfaleh, Sultan ALkhenaizan, Mohammed Albalwi

Abstract:

Ichthyosis is a disorder of abnormal keratinization, characterized by excessive scaling, and consists of more than twenty subtypes varied in severity, mode of inheritance, and the genes involved. There is insufficient data in the literature about the epidemiology and characteristics of ichthyosis locally. Our aim is to identify the histopathological features and genetic profile of ichthyosis. Method: It is an observational retrospective case series study conducted in March 2020, included all patients who were diagnosed with Ichthyosis and confirmed by histological and molecular findings over the last 20 years in King Abdulaziz Medical City (KAMC), Riyadh, Saudi Arabia. Molecular analysis was performed by testing genomic DNA and checking genetic variations using the AmpliSeq panel. All disease-causing variants were checked against HGMD, ClinVar, Genome Aggregation Database (gnomAD), and Exome Aggregation Consortium (ExAC) databases. Result: A total of 60 cases of Ichthyosis were identified with a mean age of 13 ± 9.2. There is an almost equal distribution between female patients 29 (48%) and males 31 (52%). The majority of them were Saudis, 94%. More than half of patients presented with general scaling 33 (55%), followed by dryness and coarse skin 19 (31.6%) and hyperlinearity 5 (8.33%). Family history and history of consanguinity were seen in 26 (43.3% ), 13 (22%), respectively. History of colloidal babies was found in 6 (10%) cases of ichthyosis. The most frequent genes were ALOX12B, ALOXE3, CERS3, CYP4F22, DOLK, FLG2, GJB2, PNPLA1, SLC27A4, SPINK5, STS, SUMF1, TGM1, TGM5, VPS33B. Most frequent variations were detected in CYP4F22 in 16 cases (26.6%) followed by ALOXE3 6 (10%) and STS 6 (10%) then TGM1 5 (8.3) and ALOX12B 5 (8.3). The analysis of molecular genetic identified 23 different genetic variations in the genes of ichthyosis, of which 13 were novel mutations. Homozygous mutations were detected in the majority of ichthyosis cases, 54 (90%), and only 1 case was heterozygous. Few cases, 4 (6.6%) had an unknown type of ichthyosis with a negative genetic result. Conclusion: 13 novel mutations were discovered. Also, about half of ichthyosis patients had a positive history of consanguinity.

Keywords: ichthyosis, genetic profile, molecular characterization, congenital ichthyosis

Procedia PDF Downloads 174

Authors: Atsuko Okazaki, Jurg Ott

Abstract:

Some genetic diseases (‘digenic traits’) are due to the interaction between two DNA variants. For example, certain forms of Retinitis Pigmentosa (a genetic form of blindness) occur in the presence of two mutant variants, one in the ROM1 gene and one in the RDS gene, while the occurrence of only one of these mutant variants leads to a completely normal phenotype. Detecting such digenic traits by genetic methods is difficult. A common approach to finding disease-causing variants is to compare 100,000s of variants between individuals with a trait (cases) and those without the trait (controls). Such genome-wide association studies (GWASs) have been very successful but hinge on genetic effects of single variants, that is, there should be a difference in allele or genotype frequencies between cases and controls at a disease-causing variant. Frequent pattern mining (FPM) methods offer an avenue at detecting digenic traits even in the absence of single-variant effects. The idea is to enumerate pairs of genotypes (genotype patterns) with each of the two genotypes originating from different variants that may be located at very different genomic positions. What is needed is for genotype patterns to be significantly more common in cases than in controls. Let Y = 2 refer to cases and Y = 1 to controls, with X denoting a specific genotype pattern. We are seeking association rules, ‘X → Y’, with high confidence, P(Y = 2|X), significantly higher than the proportion of cases, P(Y = 2) in the study. Clearly, generally available FPM methods are very suitable for detecting disease-associated genotype patterns. We use fpgrowth as the basic FPM algorithm and built a framework around it to enumerate high-frequency digenic genotype patterns and to evaluate their statistical significance by permutation analysis. Application to a published dataset on opioid dependence furnished results that could not be found with classical GWAS methodology. There were 143 cases and 153 healthy controls, each genotyped for 82 variants in eight genes of the opioid system. The aim was to find out whether any of these variants were disease-associated. The single-variant analysis did not lead to significant results. Application of our FPM implementation resulted in one significant (p < 0.01) genotype pattern with both genotypes in the pattern being heterozygous and originating from two variants on different chromosomes. This pattern occurred in 14 cases and none of the controls. Thus, the pattern seems quite specific to this form of substance abuse and is also rather predictive of disease. An algorithm called Multifactor Dimension Reduction (MDR) was developed some 20 years ago and has been in use in human genetics ever since. This and our algorithms share some similar properties, but they are also very different in other respects. The main difference seems to be that our algorithm focuses on patterns of genotypes while the main object of inference in MDR is the 3 × 3 table of genotypes at two variants.

Keywords: digenic traits, DNA variants, epistasis, statistical genetics

Procedia PDF Downloads 100

Authors: Lim Pey Huan

Abstract:

In the second half of the 19th century, Vietnam has long been influenced by Han culture, so there are many similarities in religion and folk beliefs. Even after the acceptance process of the Catholic Church introduced from Europe is quite similar. Therefore, in the spiritual life of Vietnamese civil society, Confucianism, Buddhism, Taoism, Christianity, Islam, and folk beliefs can be said to be the main trend, but in the twentieth century, two indigenous new religions were born: Caodai and He Hao Jiao, both of which are produced and developed in the south, each of which has millions of believers and become important Vietnamese religions. Their political participation has a major impact on the development of the Republic of Vietnam, and their fate is also in the north and south. Significant changes have taken place after reunification. Caodai was later approved by the colonial authorities and became the third largest religion in Vietnam. The teachings of Caodai teach the ideas of the major religions of the world. The classics used in the teachings also contain important theories of various religions, with particular emphasis on the comprehensiveness of the three sects of Confucianism, Buddhism, and Taoism. The obvious manifestation lies in the interpretation of the important proposition of 'opening the three religions and returning to the five branches.' The full name of Caodaism is 'Da Dao San Qi Pu Du Gao Tai Jiao'. This name coincides with the 'Longhua Club' and the 'San Qi Mo Jie' idea and the consistent central idea. The emerging road of Caodai advocates to lead the sentient beings back to their original missions; the sentient beings will be centered on people, and the nature of the talks is nothing more than the original mission and standard. There are many opinions about the introduction of Caodaism into southern Vietnam. Caodai believers believe that Caodaism is an emerging new religion in Vietnam. If we further explore the teachings and religious rituals of Caodai, it is not difficult to find that many Chinese sects have been introduced to Vietnam. Some of the colors can be discussed from the spread and influence of Congenital Road in Vietnam. This article will present the author's analysis of the actual process of tutoring in Vietnam's Caodai, and then compare it with the consistent religious experience, trying to explore the Yi-Kuan-Tao and consistent Yi-Kuan-Tao rituals, religious organization, religious teachings, religious life care, and Funeral rituals and other comparative studies.

Keywords: Vietnam, Caodaism, Yi-Kuan-Tao, religious rituals

Procedia PDF Downloads 95

Authors: Sushma Tejwani, Shoruba Dinakaran, Rupa Rokhade, K. Bhujang Shetty

Abstract:

Introduction and aim: One of the major causes for failure of trabeculectomy is fibrosis and scarring of subconjunctival tissue around the bleb, and hence intra operative usage of anti-fibrotic agents like Mitomycin C (MMC) has become very popular. However, the long term effects of MMC like thin, avascular bleb, hypotony, bleb leaks and late onset endophthalmitis cannot be ignored, and may preclude its usage in routine trabeculectomy. In this particular study we aim to study the outcomes of trabeculectomy with and without MMC in uncomplicated glaucoma patients. Methods: Retrospective study of series of patients that underwent trabeculectomy with or without cataract surgery in glaucoma department of a tertiary eye care centre by a single surgeon for primary open angle glaucoma (POAG), angle closure glaucoma (PACG), Pseudoexfoliation glaucoma (PXF glaucoma). Patients with secondary glaucoma, juvenile and congenital glaucoma were excluded; also patients undergoing second trabeculectomy were excluded. The outcomes were studied in terms of IOP control at 1 month, 6 months, and 1 year and were analyzed separately for surgical outcomes with and without MMC. Success was considered if IOP was < 16 mmHg on applanation tonometry. Further, the necessity of medication, 5 fluorouracil (5FU) postoperative injections, needling post operatively was noted. Results: Eighty nine patient’s medical records were reviewed, of which 58 patients had undergone trabeculectomy without MMC and 31 with MMC. Mean age was 62.4 (95%CI 61- 64), 34 were females and 55 males. MMC group (n=31): Preoperative mean IOP was 21.1mmHg (95% CI: 17.6 -24.6), and 22 patients had IOP > 16. Three out of 33 patients were on single medication and rests were on multiple drugs. At 1 month (n=27) mean IOP was 12.4 mmHg (CI: 10.7-14), and 31/33 had success. At 6 months (n=18) mean IOP was 13mmHg (CI: 10.3-14.6) and 16/18 had good outcome, however at 1 year only 11 patients were available for follow up and 91% (10/11) had success. Overall, 3 patients required medication and one patient required postoperative injection of 5 FU. No MMC group (n=58): Preoperative mean IOP was 21.9 mmHg (CI: 19.8-24.2), and 42 had IOP > 16 mmHg. 12 out of 58 patients were on single medication and rests were on multiple drugs. At 1 month (n=52) mean IOP was14.6mmHg (CI: 13.2-15.9), and 45/ 58 had IOP < 16mmHg. At 6 months (n=31) mean IOP was 13.5 mmHg (CI: 11.9-15.2) and 26/31 had success, however at 1 year only 23 patients came for follow up and of these 87% (20/23) patients had success. Overall, 1 patient required needling, 5 required 5 FU injections and 5 patients required medication. The success rates at each follow up visit were not significantly different in both the groups. Conclusion: Intra-operative MMC usage may not be required in all patients undergoing trabeculectomy, and the ones without MMC also have fairly good outcomes in primary glaucoma.

Keywords: glaucoma filtration surgery, mitomycin C, outcomes of trabeculectomy, wound modulation

Procedia PDF Downloads 245

Authors: Izuddin Fahmy Abu, Mohamad Haiqal Nizar Mohamad, Muhammad Fattah Fazel, Renu Agarwal, Igor Iezhitsa, Nor Salmah Bakar, Henrik Franzyk, Ian Mellor

Abstract:

Glaucoma is the global leading cause of irreversible blindness. Currently, the available treatment strategy only involves lowering intraocular pressure (IOP); however, the condition often progresses despite lowered or normal IOP in some patients. N-methyl-D-aspartate receptor (NMDAR) excitotoxicity often occurs in neurodegeneration-related glaucoma; thus it is a relevant target to develop a therapy based on neuroprotection approach. This study investigated the effects of Philanthotoxin-343 (PhTX-343), an NMDAR antagonist, on the neuroprotection of NMDA-induced glaucoma to alleviate visual impairments. Male Sprague-Dawley rats were equally divided: Groups 1 (control) and 2 (glaucoma) were intravitreally injected with phosphate buffer saline (PBS) and NMDA (160nM), respectively, while group 3 was pre-treated with PhTX-343 (160nM) 24 hours prior to NMDA injection. Seven days post-treatments, rats were subjected to visual behavior assessments and subsequently euthanized to harvest their retina and optic nerve tissues for histological analysis and determination of nitrosative stress level using 3-nitrotyrosine ELISA. Visual behavior assessments via open field, object, and color recognition tests demonstrated poor visual performance in glaucoma rats indicated by high exploratory behavior. PhTX-343 pre-treatment appeared to preserve visual abilities as all test results were significantly improved (p < 0.05). H&E staining of the retina showed a marked reduction of ganglion cell layer thickness in the glaucoma group; in contrast, PhTX-343 significantly increased the number by 1.28-folds (p < 0.05). PhTX-343 also increased the number of cell nuclei/100μm2 within inner retina by 1.82-folds compared to the glaucoma group (p < 0.05). Toluidine blue staining of optic nerve tissues showed that PhTX-343 reduced the degeneration changes compared to the glaucoma group which exhibited vacuolation overall sections. PhTX-343 also decreased retinal 3- nitrotyrosine concentration by 1.74-folds compared to the glaucoma group (p < 0.05). All results in PhTX-343 group were comparable to control (p > 0.05). We conclude that PhTX-343 protects against NMDA-induced changes and visual impairments in the rat model by reducing nitrosative stress levels.

Keywords: excitotoxicity, glaucoma, nitrosative stress , NMDA receptor , N-methyl-D-aspartate , philanthotoxin, visual behaviour

Procedia PDF Downloads 104

Authors: Haidy Weliam Megaly Gouda

Abstract:

Dermatology is often a neglected specialty in low-resource settings despite the high morbidity associated with skin disease. This becomes even more significant when associated with HIV infection, as dermatological conditions are more common and aggressive in HIV-positive patients. African countries have the highest HIV infection rates, and skin conditions are frequently misdiagnosed and mismanaged because of a lack of dermatological training and educational material. The frequent lack of diagnostic tests in the African setting renders basic clinical skills all the more vital. This project aimed to improve the diagnosis and treatment of skin disease in the HIV population in a district hospital in Malawi. A basic dermatological clinical tool was developed and produced in collaboration with local staff and based on available literature and data collected from clinics. The aim was to improve diagnostic accuracy and provide guidance for the treatment of skin disease in HIV-positive patients. A literature search within Embassy, Medline and Google Scholar was performed and supplemented through data obtained from attending 5 Antiretroviral clinics. From the literature, conditions were selected for inclusion in the resource if they were described as specific, more prevalent, or extensive in the HIV population or have more adverse outcomes if they develop in HIV patients. Resource-appropriate treatment options were decided using Malawian Ministry of Health guidelines and textbooks specific to African dermatology. After the collection of data and discussion with local clinical and pharmacy staff, a list of 15 skin conditions was included, and a booklet was created using the simple layout of a picture, a diagnostic description of the disease and treatment options. Clinical photographs were collected from local clinics (with full consent of the patient) or from the book ‘Common Skin Diseases in Africa’ (permission granted if fully acknowledged and used in a not-for-profit capacity). This tool was evaluated by the local staff alongside an educational teaching session on skin disease. This project aimed to reduce uncertainty in diagnosis and provide guidance for appropriate treatment in HIV patients by gathering information into one practical and manageable resource. To further this project, we hope to review the effectiveness of the tool in practice.

Keywords: prevalence and pattern of skin diseases, impact on quality of life, rural Nepal, interventions, quality switched ruby laser, skin color river blindness, clinical signs, circularity index, grey level run length matrix, grey level co-occurrence matrix, local binary pattern, object detection, ring detection, shape identification

Procedia PDF Downloads 18

Authors: Mairo H. Ipadeola, Catherine James Atteng

Abstract:

The term social inclusion refers to a process by which those disadvantaged in society can have access to fully participate in education like others. Student with special needs are expected to learn along with their peers within the some educational institutions which provide adequate access for all. There for, the study sort to understand the typical ways in which students with disabilities (SWD) were denied from fully participating as students in Kaduna Polytechnic. In doing this, two (2) objectives and research questions were raised. Firstly, to explore the attitudes of others towards students with disabilities in the institutions and secondly, to ascertain the extent of social participation and physical accessibility for students with disabilities (SWD) while in the institutions. Based on the objectives the paper postulated the research questions: what are the attitudes of management, teachers, and students towards students with special need in Kaduna Polytechnic and to what extent did the students with disabilities experience social participation and physical accessibility within Kaduna Polytechnic school environment? The study area was Kaduna Polytechnic. The study engaged the interview for the data collected which were transcribed and analyzed by thematic coding. The findings were categorized under themes, sub-themes, and codes. The findings revealed that the perception, behavior, and association experiences of students with disabilities within Kaduna Polytechnic were not encouraging. Their experiences were characterized by negative attitudes, feelings of rejection, neglect, and bullying. Data generated on social participation indicated that 71% of the respondents believed that learning, school activities, recreations, and student politics between SWD and the other student were in the direction of low / very low. All the respondents, particularly students with blindness and physical challenges faced difficulty with environmental and physical access above all within the school environment, classroom, walkways and ramps, Also, directions were none existent in most departments with physical access to classrooms, toilets, cafeterias, and school shops absent or very low (71% and 29% of the respondents). The conclusion was that the physical barriers limited the possibilities of social participation of SWD.The paper made some recommendations such as mass public enlightenment on radio and television to change the perception of society about people with disability. Also, the federal, state, and local governments enact building acts for fresh builders and adopted measures and time frames for existing public buildings to be made accessible for people with disabilities. All stakeholders should ensure that the five (5) percent budget set aside by State Universal Basic Education Board (SUBEB) and/or Tertiary Education Trust Fund (TETFUND) for the provision of specialized equipment and facilities for the student with special needs should be used prudently spent and monitored by the board.cm.

Keywords: social inclusion, students with disability, social participation, environmental/physical access

Procedia PDF Downloads 27

Authors: M. Warburton

Abstract:

Background: Case study examining hydrotherapy for a person with DSI. A 46 year-old lady completely deaf and blind post congenital rubella syndrome. Touch becomes the primary information gathering sense to optimise function in life. Communication is achieved via tactile finger spelling and signals onto her hand and skin. Hydrotherapy may provide a suitable mobility environment and somato-sensory input to people, and especially DSI persons. Buoyancy, warmth, hydrostatic pressure, viscosity and turbulence are elements of hydrotherapy that may offer a DSI person somato-sensory input to stimulate the mechanoreceptors, thermoreceptors and proprioceptors and offer a unique hydro-therapeutic environment. Purpose: The purpose of this case study was to establish what measurable benefits could be achieved from hydrotherapy with a DSI person. Methods: Hydrotherapy was provided for 8-weeks, 2 x week, 35-minute session duration. Pool temperature 32.5 degrees centigrade. Pool length 25-metres. Each session consisted of mobility encouragement and supervision, and activities to stimulate the somato-sensory system utilising aquatic properties of buoyancy, turbulence, viscosity, warmth and hydrostatic pressure. Somato-sensory activities focused on stimulating touch and tactile exploration including objects of various shape, size, weight, contour, texture, elasticity, pliability, softness and hardness. Outcomes were measured by the Goal Attainment Scale (GAS) and included mobility distance, attendance, and timed tactile responsiveness to varying objects. Results: Mobility distance and attendance exceeded baseline expectations. Timed tactile responsiveness to varying objects also changed positively from baseline. Average scale scores were 1.00 with an overall GAS t-score of 63.69. Conclusions: Hydrotherapy can be a quantifiable physio-therapeutic option for persons with DSI. It provides a relatively safe environment for mobility and allows the somato-sensory system to be fully engaged - important for the DSI population. Implications: Hydrotherapy can be a measurable therapeutic option for a DSI person. Physiotherapists should consider hydrotherapy for DSI people. Hydrotherapy can offer unique physical properties for the DSI population not available on land.

Keywords: chronic, disability, disease, rehabilitation

Procedia PDF Downloads 318

Authors: Goutam Kumar Ghorai, Sandip Sadhukhan, Arpita Sarkar, Debprasad Sinha, G. Sarkar, Ashis K. Dhara

Abstract:

Diabetes mellitus is one of the most common chronic diseases in all countries and continues to increase in numbers significantly. Diabetic retinopathy (DR) is damage to the retina that occurs with long-term diabetes. DR is a major cause of blindness in the Indian population. Therefore, its early diagnosis is of utmost importance towards preventing progression towards imminent irreversible loss of vision, particularly in the huge population across rural India. The barriers to eye examination of all diabetic patients are socioeconomic factors, lack of referrals, poor access to the healthcare system, lack of knowledge, insufficient number of ophthalmologists, and lack of networking between physicians, diabetologists and ophthalmologists. A few diabetic patients often visit a healthcare facility for their general checkup, but their eye condition remains largely undetected until the patient is symptomatic. This work aims to focus on the design and development of a fully automated intelligent decision system for screening retinal fundus images towards detection of the pathophysiology caused by microaneurysm in the early stage of the diseases. Automated detection of microaneurysm is a challenging problem due to the variation in color and the variation introduced by the field of view, inhomogeneous illumination, and pathological abnormalities. We have developed aconvolutional neural network for efficient detection of microaneurysm. A loss function is also developed to handle severe class imbalance due to very small size of microaneurysms compared to background. The network is able to locate the salient region containing microaneurysms in case of noisy images captured by non-mydriatic cameras. The ground truth of microaneurysms is created by expert ophthalmologists for MESSIDOR database as well as private database, collected from Indian patients. The network is trained from scratch using the fundus images of MESSIDOR database. The proposed method is evaluated on DIARETDB1 and the private database. The method is successful in detection of microaneurysms for dilated and non-dilated types of fundus images acquired from different medical centres. The proposed algorithm could be used for development of AI based affordable and accessible system, to provide service at grass root-level primary healthcare units spread across the country to cater to the need of the rural people unaware of the severe impact of DR.

Keywords: retinal fundus image, deep convolutional neural network, early detection of microaneurysms, screening of diabetic retinopathy

Procedia PDF Downloads 109

Authors: A. P. Pashkov

Abstract:

The number of environmental factors that adversely affect children's health is growing every year; their combination in each territory is different. The contribution of socio-economic factors to the health status of the younger generation is increasing. It is the child’s body that is most sensitive to changes in environmental conditions, responding to this with a deterioration in health. Over the past years, scientists have determined the influence of environmental factors and the incidence of children. Currently, there is a tendency to study regional characteristics of the interaction of a combination of environmental factors with the child's body. The aim of the work was to identify trends in the primary non-infectious morbidity of the children of the Altai Territory as a unique region that combines territories with different levels of environmental quality indicators, as well as to assess the effect of atmospheric air, drinking water and socio-economic indicators on the incidence of children in the region. An unfavorable tendency has been revealed in the region for incidence of such nosological groups as neoplasms, including malignant ones, diseases of the endocrine system, including obesity and thyroid disease, diseases of the circulatory system, digestive diseases, diseases of the genitourinary system, congenital anomalies, and respiratory diseases. Between some groups of diseases revealed a pattern of geographical distribution during mapping and a significant correlation. Some nosologies have a relationship with socio-economic indicators for an integrated assessment: circulatory system diseases, respiratory diseases (direct connection), endocrine system diseases, eating disorders, and metabolic disorders (feedback). The analysis of associations of the incidence of children with average annual concentrations of substances that pollute the air and drinking water showed the existence of reliable correlation in areas of critical and intense degree of environmental quality. This fact confirms that the population living in contaminated areas is subject to the negative influence of environmental factors, which immediately affects the health status of children. The results obtained indicate the need for a detailed assessment of the influence of environmental factors on the incidence of children in the regional aspect, the formation of a database, and the development of automated programs that can predict the incidence in each specific territory. This will increase the effectiveness, including economic of preventive measures.

Keywords: incidence of children, regional features, socio-economic factors, environmental factors

Procedia PDF Downloads 88

Authors: Tuna Şahsuvaroğlu

Abstract:

The concept of disability is a concept that has been the subject of many studies in national and international literature with its social, sociological, political, anthropological, economic and social dimensions as well as with individual and social consequences. A disabled person is defined as a person who has difficulties in adapting to social life and meeting daily needs due to loss of physical, mental, spiritual, sensory and social abilities to various degrees, either from birth or for any reason later, and they are in need of protection, care, rehabilitation, counseling and support services. The industrial revolution and the rapid industrialization it brought with it led to an increase in the rate of disabilities resulting from work accidents, in addition to congenital disabilities. This increase has resulted in disabled people included in the employment policies of nations as a disadvantaged group. Although the participation of disabled individuals in the workforce is of great importance in terms of both increasing their quality of life and their integration with society and although disabled individuals are willing to participate in the workforce, they encounter with many problems. One of these problems is the negative attitudes and prejudices that develop in society towards the employment of disabled individuals. One of the most powerful ways to turn these negative attitudes and prejudices into positive ones is education. Education is a way of guiding societies and transferring existing social characteristics to future generations. This can be maintained thanks to teachers, who are one of the most dynamic parts of society and act as the locomotive of education driven by the need to give direction and transfer and basically to help and teach. For this reason, there is a strong relationship between the teaching profession and the attitudes formed in society towards the employment of disabled individuals, as they can influence each other. Therefore, the purpose of this study is to examine teacher candidates' attitudes towards the employment of disabled individuals in terms of various variables. The participants of the study consist of 665 teacher candidates studying at various departments at Marmara University Faculty of Education in the 2022-2023 academic year. The descriptive survey model of the general survey model was used in this study as it intends to determine the attitudes of teacher candidates towards the employment of disabled individuals in terms of different variables. The Attitude Scale Towards Employment of Disabled People was used to collect data. The data were analyzed according to the variables of age, gender, marital status, the department, and whether there is a disabled relative in the family, and the findings were discussed in the context of further research.

Keywords: teacher candidates, disabled, attitudes towards the employment of disabled people, attitude scale towards the employment of disabled people

Procedia PDF Downloads 39

Authors: Suat Erel, Gozde Gur

Abstract:

Background: Recently a supramalleolar type of dynamic ankle foot orthosis (DAFO) has been increasingly used to support all of the dynamic arches of the foot and redistribute the pressure under the plantar surface of the foot to reduce the muscle tone. DAFO helps to maintain balance and postural control by providing stability and proprioceptive feedback in children with disease like Cerebral Palsy, Muscular Dystrophies, Down syndrome, and congenital hypotonia. Aim: The aim of this study was to investigate the role of Dynamic ankle foot orthosis (DAFO) on temporo-spatial parameters of gait and balance in three children with hereditary spastic paraparesis (HSP). Material Method: 13, 14, and 8 years old three children with HSP were included in the study. To provide correction on weight bearing and to improve gait, DAFO was made. Lower extremity spasticity (including gastocnemius, hamstrings and hip adductor muscles) using modified Ashworth Scale (MAS) (0-5), The temporo-spatial gait parameters (walking speed, cadence, base of support, step length) and Timed Up & Go test (TUG) were evaluated. All of the assessments about gait were compared with (with DAFO and shoes) and without DAFO (with shoes only) situations. Also after six months follow up period, assessments were repeated by the same physical therapist. Results: MAS scores for lower extremity were between “2-3” for the first child, “0-2” for the second child and “1-2” for the third child. TUG scores (sec) decreased from 20.2 to 18 for case one, from 9.4 to 9 for case two and from 12,4 to 12 for case three in the condition with shoes only and also from 15,2 to 14 for case one, from 7,2 to 7,1 for case two and from 10 to 7,3 for case three in the condition with DAFO and shoes. Gait speed (m/sec) while wearing shoes only was similar but while wearing DAFO and shoes increased from 0,4 to 0,5 for case one, from 1,5 to 1,6 for case two and from 1,0 to 1,2 for case three. Base of support scores (cm) wearing shoes only decreased from 18,5 to 14 for case one, from 13 to 12 for case three and were similar as 11 for case two. While wearing DAFO and shoes, base of support decreased from 10 to 9 for case one, from 11,5 to 10 for case three and was similar as 8 for case two. Conclusion: The use of a DAFO in a patient with HSP normalized the temporo-spatial gait parameters and improved balance. Walking speed is a gold standard for evaluating gait quality. With the use of DAFO, walking speed increased in this three children with HSP. With DAFO, better TUG scores shows that functional ambulation improved. Reduction in base of support and more symmetrical step lengths with DAFO indicated better balance. These encouraging results warrant further study on wider series.

Keywords: dynamic ankle foot orthosis, gait, hereditary spastic paraparesis, balance in patient

Procedia PDF Downloads 331

Authors: Atitallah Sofien, Bouyahia Olfa, Romdhani Meriam, Missaoui Nada, Ben Rabeh Rania, Yahyaoui Salem, Mazigh Sonia, Boukthir Samir

Abstract:

Introduction: Spondylothoracic dysostosis, also known as Jarcho-Levin syndrome, is defined by a shortened neck and thorax, a protruding abdomen, inguinal and umbilical hernias, atypical spinal structure and rib fusion, leading to restricted chest movement or difficulty in breathing, along with urinary tract abnormalities and, potentially severe scoliosis. Aim: This is the case of a patient diagnosed with Jarcho-Levin syndrome, aiming to detail the range of abnormalities observed in this syndrome, the observed complications, and the therapeutic approaches employed. Results: A three-month-old male infant, born of a consanguineous marriage, delivered at full term by cesarean section, was admitted to the pediatric department for severe acute bronchiolitis. In his prenatal history, morphological ultrasound revealed macrosomia, a shortened spine, irregular vertebrae with thickened skin, normal fetal cardiac ultrasound, and the absence of the right kidney. His perinatal history included respiratory distress, requiring ventilatory support for five days. Upon physical examination, he had stunted growth, scoliosis, a short neck and trunk, longer upper limbs compared to lower limbs, varus equinus in the right foot, a neural tube defect, a low hairline, and low-set ears. Spondylothoracic dysostosis was suspected, leading to further investigations, including a normal transfontaneous ultrasound, a spinal cord ultrasound revealing a lipomyelocele-type closed dysraphism with a low-attached cord, an abdominal ultrasound indicating a single left kidney, and a cardiac ultrasound identifying Kommerell syndrome. Due to a lack of resources, genetic testing could not be performed, and the diagnosis was based on clinical criteria. Conclusion: Jarcho-Levin syndrome can result in a mortality rate of about 50%, primarily due to respiratory complications associated with thoracic insufficiency syndrome. Other complications, like heart and neural tube defects, can also lead to premature mortality. Therefore, early diagnosis and comprehensive treatment involving various specialists are essential.

Keywords: Jarcho-Levin syndrome, congenital disorder, scoliosis, spondylothoracic dysostosis, neural tube defect

Procedia PDF Downloads 33

Authors: Caroline Kim

Abstract:

Scholars have long disputed the relationship between the origins of language and human behavior. Historically, behaviorist psychologist B. F. Skinner argued that language is one instance of the general stimulus-response phenomenon that characterizes the essence of human behavior. Another, more recent approach argues, by contrast, that language is an innate cognitive faculty and does not arise from behavior, which might develop and reinforce linguistic facility but is not its source. Pinker, among others, proposes that linguistic defects arise from damage to the brain, both congenital and acquired in life. Much of his argument is based on case studies in which damage to the Broca’s and Wernicke’s areas of the brain results in loss of the ability to produce coherent grammatical expressions when speaking or writing; though affected speakers often utter quite fluent streams of sentences, the words articulated lack discernible semantic content. Pinker concludes on this basis that language is an innate component of specific, classically language-correlated regions of the human brain. Taking a notorious 1970s case of linguistic maladaptation, this paper queries the dominant materialist paradigm of language-correlated regions. Susan “Genie” Wiley was physically isolated from language interaction in her home and beaten by her father when she attempted to make any sort of sound. Though without any measurable resulting damage to the brain, Wiley was never able to develop the level of linguistic facility normally achieved in adulthood. Having received a negative reinforcement of language acquisition from her father and lacking the usual language acquisition period, in adulthood Wiley was able to develop language only at a quite limited level in later life. From a contemporary behaviorist perspective, this case confirms the possibility of language deficiency without brain pathology. Wiley’s potential language-determining areas in the brain were intact, and she was exposed to language later in her life, but she was unable to achieve the normal level of communication skills, deterring socialization. This phenomenon and others like it in the case limited literature on linguistic maladaptation pose serious clinical, scientific, and indeed philosophical difficulties for both of the major competing theories of language acquisition, innateness, and linguistic stimulus-response. The implications of such cases for future research in language acquisition are explored, with a particular emphasis on the interaction of innate capacity and stimulus-based development in early childhood.

Keywords: behaviorism, innateness hypothesis, language, Susan "Genie" Wiley

Procedia PDF Downloads 264

Authors: Maryam Firouzmandi, Moosa Miri

Abstract:

Common reasons for early tooth loss are trauma, extraction due to caries or periodontal disease and congenital missing. The remaining space after tooth loss may cause functional and esthetic problems. Therefore restorative dentists should attempt to manage these spaces using conservative methods. The goal is to restore the lost esthetic and function, prevent phonetic, self-esteem and personality problems and tongue habits. Preserving alveolar bone is also of great importance during the growth stage. Purpose: When deciding about the management of the missing tooth, space implants are contradicted until the completion of dentoalveolar development. Even in adulthood, due to systemic or periodontal problems or biological and economic issues, the implant might not be indicated. In this article, the alternative conservative restorative methods of space maintenance are going to be discussed. Essix retainers are made chair-side as easy as forming a custom bleaching tray with some modifications. They are esthetically acceptable and not expensive. These temporaries provide support for the lips but could not be used during function. Mini-screw-supported temporaries are another option for maintaining the space, especially after orthodontic treatment when there is a time lag between the termination of orthodontic treatment and definitive restoration. Two techniques will be presented for this kind of restoration: Denture tooth pontic or a composite crown. The benefits are alveolar bone preservation, Physiologic pressure on the alveolar ridge to increase its density and even can be retained until the completion of the definitive treatment. Bonded fixed partial denture includes Maryland bridge, fiber-reinforced composite bridge, resin-bonded bridge, and ceramic bonded bridge. These types of bridges are recommended to be used after a pubertal growth spurt and a recent meta-analysis considered their clinical success similar to conventional FDPs and implant-supported crowns. However, they have several advantages that are going to be discussed by presenting some clinical examples. Practical instruction on how to construct an FRC bridge and a novel chair-side Maryland bridge will be given by means of clinical cases. Clinical relevance: minimally invasive options should always be considered and destruction of healthy enamel and dentin during the preparation phase should be avoided as much as possible.

Keywords: tooth missing, fiber-reinforced composite, Maryland, Essix retainers, screw-retained restoration

Procedia PDF Downloads 173

Authors: Celine Shi Ying Lee, Jong Jian Lee

Abstract:

Background: Infectious keratitis is one of the leading causes of blindness worldwide. Prompt treatment with effective medication will control the infection early, preventing corneal scarring and visual loss. fluoroquinolones ophthalmic medication is used because of its broad-spectrum properties, potency, good intraocular penetration, and low toxicity. The study aims to evaluate the treatment outcome of corneal ulcers using Levofloxacin 1.5% ophthalmic solution (LVFX) with adjuvant oral ciprofloxacin when indicated and apply this treatment strategy in primary health care as first-line treatment. Methods: Patients with infective corneal ulcer treated in an eye center were recruited. Inclusion criteria includes Corneal infection consistent with bacterial keratitis, single or multiple small corneal ulcers. Treatment regime: LVFX hourly for the first 2 days, 2 hourly from the 3rd day, and 3 hourly on the 5th day of review. Adjuvant oral ciprofloxacin 500mg BD was administered for 5 days if there were multiple corneal ulcers or when the location of the cornea ulcer was central or paracentral. Results: 47 subjects were recruited. There were 16 (34%) males and 31 (66%) females. 40 subjects (85%) were contact lens (CL) related to corneal ulcer, and 7 subjects (15%) were non-contact lens related. 42 subjects (89%) presented with one ulcer, of which 20 of them (48%) needed adjuvant therapy. 5 subjects presented with 2 or 3 ulcers, of which 3 needed adjuvant therapy. A total of 23 subjects (49%) was given adjuvant therapy (oral ciprofloxacin 500mg BD for 5 days).21 of them (91%) were CL related. All subjects recovered fully, and the average duration of treatment was 3.7 days, with 49% of the subjects resolved on the 3rd day, 38% on the 5thday of and 13% on the 7thday. All subjects showed symptoms of relief of pain, light-sensitivity, and redness on the 3rd day with full visual recovery post-treatment. No adverse drug reactions were recorded. Conclusion: Our treatment regime demonstrated good clinical outcome as first-line treatment for corneal ulcers. A corneal ulcer is a common eye condition in Singapore, mainly due to CL wear. Pseudomonas aeruginosa is the most frequent and potentially sight-threatening pathogen involved in CL related corneal ulcer. Coagulase-negative Staphylococci, Staphylococcus aureus, and Streptococcus Pneumoniae were seen in non-CL users. All these bacteria exhibit good sensitivity rates to ciprofloxacin and levofloxacin. It is therefore logical in our study to use LVFX Eyedrops and adjuvant ciprofloxacin oral antibiotics when indicated as first line treatment for most corneal ulcers. Our study of patients, both CL related and non-CL related, have shown good clinical response and full recovery using the above treatment strategy. There was also a full restoration of visual acuity in all the patients. Eye-trained primary Healthcare practitioners can consider adopting this treatment strategy as first line treatment in patients with corneal ulcers. This is relevant during the COVID pandemic, where hospitals are overwhelmed with patients and in regions with limited access to specialist eye care. This strategy would enable early treatment with better clinical outcome.

Keywords: corneal ulcer, levofloxacin hydrate, treatment strategy, ciprofloxacin

Procedia PDF Downloads 150

Authors: Girija Madhavanprabhakaran, Frincy Franacis, Sheeba Elizabeth John

Abstract:

Introduction: A wide range of prenatal genetic screening is introduced with increasing incidences of congenital anomalies even in low-risk pregnancies and is an emerging standard of care. Being frontline caretakers, the role and responsibilities of nurses and midwives are critical as they are working along with couples to provide evidence-based supportive educative care. The increasing genetic disorders and advances in prenatal genetic screening with limited genetic counselling facilities urge nurses and midwifery nurses with essential competencies to help couples to take informed decision. Objective: This integrative literature review aimed to explore nurse midwives’ knowledge and role in prenatal screening and genetic counselling competency and the challenges faced by them to cater to all pregnant women to empower their autonomy in decision making and ensuring psychological comfort. Method: An electronic search using keywords prenatal screening, genetic counselling, prenatal counselling, nurse midwife, nursing education, genetics, and genomics were done in the PUBMED, SCOPUS and Medline, Google Scholar. Finally, based on inclusion criteria, 8 relevant articles were included. Results: The main review results suggest that nurses and midwives lack essential support, knowledge, or confidence to be able to provide genetic counselling and help the couples ethically to ensure client autonomy and decision making. The majority of nurses and midwives reported inadequate levels of knowledge on genetic screening and their roles in obtaining family history, pedigrees, and providing genetic information for an affected client or high-risk families. The deficiency of well-recognized and influential clinical academic midwives in midwifery practice is also reported. Evidence recommended to update and provide sound educational training to improve nurse-midwife competence and confidence. Conclusion: Overcoming the challenges to achieving informed choices about fetal anomaly screening globally is a major concern. Lack of adequate knowledge and counselling competency, communication insufficiency, need for education and policy are major areas to address. Prenatal nurses' and midwives’ knowledge on prenatal genetic screening and essential counselling competencies can ensure services to the majority of pregnant women around the globe to be better-informed decision-makers and enhances their autonomy, and reduces ethical dilemmas.

Keywords: challenges, genetic counselling, prenatal screening, prenatal counselling

Procedia PDF Downloads 170

Authors: Suteera Pradubwong, Pattama Surit, Sumalee Pongpagatip, Tharinee Pethchara, Bowornsilp Chowchuen

Abstract:

Background: Cleft lip and palate (CLP) is a congenital anomaly of the lip and palate that is caused by several factors. It was found in approximately one per 500 to 550 live births depending on nationality and socioeconomic status. The Tawanchai Center and out-patients surgical room of Srinagarind Hospital are responsible for providing care to patients with CLP (starting from birth to adolescent) and their caregivers. From the observations and interviews with nurses working in these units, they reported that both patients and their caregivers confronted many problems which affected their physical and mental health. Based on the Soukup’s model (2000), the researchers used evidence triggers from clinical practice (practice triggers) and related literature (knowledge triggers) to investigate the problems. Objective: The purpose of this study was to investigate the problems of care for patients with CLP in the Tawanchai Center and out-patient surgical room of Srinagarind Hospital. Material and Method: The descriptive method was used in this study. For practice triggers, the researchers obtained the data from medical records of ten patients with CLP and from interviewing two patients with CLP, eight caregivers, two nurses, and two assistant workers. Instruments for the interview consisted of a demographic data form and a semi-structured questionnaire. For knowledge triggers, the researchers used a literature search. The data from both practice and knowledge triggers were collected between February and May 2016. The quantitative data were analyzed through frequency and percentage distributions, and the qualitative data were analyzed through a content analysis. Results: The problems of care gained from practice and knowledge triggers were consistent and were identified as holistic issues, including 1) insufficient feeding, 2) risks of respiratory tract infections and physical disorders, 3) psychological problems, such as anxiety, stress, and distress, 4) socioeconomic problems, such as stigmatization, isolation, and loss of income, 5)spiritual problems, such as low self-esteem and low quality of life, 6) school absence and learning limitation, 7) lack of knowledge about CLP and its treatments, 8) misunderstanding towards roles among the multidisciplinary team, 9) no available services, and 10) shortage of healthcare professionals, especially speech-language pathologists (SLPs). Conclusion: From evidence-triggers, the problems of care affect the patients and their caregivers holistically. Integrated long-term care by the multidisciplinary team is needed for children with CLP starting from birth to adolescent. Nurses should provide effective care to these patients and their caregivers by using a holistic approach and working collaboratively with other healthcare providers in the multidisciplinary team.

Keywords: evidence-triggers, cleft lip, cleft palate, problems of care

Procedia PDF Downloads 194

Authors: Sandeep Kumar Agrawal, Aditi Bhattacharya, Janvie Manhas, Krushna Bhatt, Yatin Kholakiya, Nupur Khera, Ajoy Roychoudhury, Sudip Sen

Abstract:

Autologous cultured explants of human oral mucosal epithelial cells (OMEC) are a potential therapeutic modality for limbal stem cell deficiency (LSCD). Injury or inflammation of the ocular surface in the form of burns, chemicals, Stevens Johnson syndrome, ocular cicatricial pemphigoid etc. can lead to destruction and deficiency of limbal stem cells. LSCD manifests in the form of severe ocular surface diseases (OSD) characterized by persistent and recurrent epithelial defects, conjuntivalisation and neovascularisation of the corneal surface, scarring and ultimately opacity and blindness. Most of the cases of OSD are associated with severe dry eye pertaining to diminished mucin and aqueous secretion. Mycophenolate mofetil (MMF) has been shown to upregulate the mucin expression in conjunctival goblet cells in vitro. The aim of this study was to evaluate the effects of MMF on mucin expression in primary cultures of oral mucosal epithelial cells. With institutional ethics committee approval and written informed consent, thirty oral mucosal epithelial tissue samples were obtained from patients undergoing oral surgery for non-malignant conditions. OMEC were grown on human amniotic membrane (HAM, obtained from expecting mothers undergoing elective caesarean section) scaffold for 2 weeks in growth media containing DMEM & Ham’s F12 (1:1) with 10% FBS and growth factors. In vitro dosage of MMF was standardised by MTT assay. Analysis of stem cell markers was done using RT-PCR while mucin mRNA expression was quantified using RT-PCR and q-PCR before and after treating cultured OMEC with graded concentrations of MMF for 24 hours. Protein expression was validated using immunocytochemistry. Morphological studies revealed a confluent sheet of proliferating, stratified oral mucosal epithelial cells growing over the surface of HAM scaffold. The presence of progenitor stem cell markers (p63, p75, β1-Integrin and ABCG2) and cell surface associated mucins (MUC1, MUC15 and MUC16) were elucidated by RT-PCR. The mucin mRNA expression was found to be upregulated in MMF treated primary cultures of OMEC, compared to untreated controls as quantified by q-PCR with β-actin as internal reference gene. Increased MUC1 protein expression was validated by immunocytochemistry on representative samples. Our findings conclude that OMEC have the ability to form a multi-layered confluent sheet on the surface of HAM similar to a cornea, which is important for the reconstruction of the damaged ocular surface. Cultured OMEC has stem cell properties as demonstrated by stem cell markers. MMF can be a novel enhancer of mucin production in OMEC. It has the potential to improve dry eye in patients undergoing OMEC transplantation for bilateral OSD. Further clinical trials are required to establish the role of MMF in patients undergoing OMEC transplantation.

Keywords: limbal stem cell deficiency, mycophenolate mofetil, mucin, ocular surface disease

Procedia PDF Downloads 303

Authors: Nouha Bouayed Abdelmoula, Rim Louati, Nawel Abdellaoui, Balkiss Abdelmoula, Oldez Kaabi, Walid Smaoui, Samir Aloulou

Abstract:

Background and Aims: Cardiofaciocutaneous syndrome (CFC) is an autosomal dominant disorder with the vast majority of cases arising by a new mutation of BRAF, MEK1, MEK2, or rarely, KRAS genes. Here, we report a rare Tunisian case of CFC syndrome for whom we identify SOS1 mutation. Methods: Genomic DNA was obtained from peripheral blood collected in an EDTA tube and extracted from leukocytes using the phenol/chloroform method according to standard protocols. High resolution melting (HRM) analysis for screening of mutations in the entire coding sequence of PTPN11 was conducted first. Then, HRM assays to look for hot spot mutations coding regions of the other genes of the RAS-MAPK pathway (RAt Sarcoma viral oncogene homolog Mitogen-Activated Protein Kinases Pathway): SOS1, SHOC2, KRAS, RAF1, KRAS, NRAS, CBL, BRAF, MEK1, MEK2, HRAS, and RIT1, were applied. Results: Heterozygous SOS1 point mutation clustered in exon 10, which encodes for the PH domain of SOS1, was identified: c.1655 G > A. The patient was a 9-year-old female born from a consanguineous couple. She exhibited pulmonic valvular stenosis as congenital heart disease. She had facial features and other malformations of Noonan syndrome, including macrocephaly, hypertelorism, ptosis, downslanting palpebral fissures, sparse eyebrows, a short and broad nose with upturned tip, low-set ears, high forehead commonly associated with bitemporal narrowing and prominent supraorbital ridges, short and/or webbed neck and short stature. However, the phenotype is also suggestive of CFC syndrome with the presence of more severe ectodermal abnormalities, including curly hair, keloid scars, hyperkeratotic skin, deep plantar creases, and delayed permanent dentition with agenesis of the right maxillary first molar. Moreover, the familial history of the patient revealed recurrent brain malignancies in the paternal family and epileptic disease in the maternal family. Conclusions: This case report of an overlapping RASopathy associated with SOS1 mutation and familial history of brain tumorigenesis is exceptional. The evidence suggests that RASopathies are truly cancer-prone syndromes, but the magnitude of the cancer risk and the types of cancer partially overlap.

Keywords: cardiofaciocutaneous syndrome, CFC, SOS1, brain cancer, germline mutation

Procedia PDF Downloads 122

Authors: Iman Zafarparandeh, Muzammil Mumtaz, Paniz Taherzadeh, Deniz Erbulut

Abstract:

The instability in the atlantoaxial joint may occur due to cervical surgery, congenital anomalies, and trauma. There are different types of fixation techniques proposed for restoring the stability and preventing harmful neurological deterioration. Application of the screw constructs has become a popular alternative to the older techniques for stabilizing the joint. The main difference between the various screw constructs is the type of the screw which can be lateral mass screw, pedicle screw, transarticular screw, and translaminar screw. The aim of this paper is to study the effect of three popular screw constructs fixation techniques on the biomechanics of the atlantoaxial joint using the finite element (FE) method. A three-dimensional FE model of the upper cervical spine including the skull, C1 and C2 vertebrae, and groups of the existing ligaments were developed. The accurate geometry of the model was obtained from the CT data of a 35-year old male. Three screw constructs were designed to compare; Magerl transarticular screw (TA-Screw), Goel-Harms lateral mass screw and pedicle screw (LM-Screw and Pedicle-Screw), and Wright lateral mass screw and translaminar screw (LM-Screw and TL-Screw). Pure moments were applied to the model in the three main planes; flexion (Flex), extension (Ext), axial rotation (AR) and lateral bending (LB). The range of motion (ROM) of C0-C1 and C1-C2 segments for the implanted FE models are compared to the intact FE model and the in vitro study of Panjabi (1988). The Magerl technique showed less effect on the ROM of C0-C1 than the other two techniques in sagittal plane. In lateral bending and axial rotation, the Goel-Harms and Wright techniques showed less effect on the ROM of C0-C1 than the Magerl technique. The Magerl technique has the highest fusion rate as 99% in all loading directions for the C1-C2 segment. The Wright technique has the lowest fusion rate in LB as 79%. The three techniques resulted in the same fusion rate in extension loading as 99%. The maximum stress for the Magerl technique is the lowest in all load direction compared to other two techniques. The maximum stress in all direction was 234 Mpa and occurred in flexion with the Wright technique. The maximum stress for the Goel-Harms and Wright techniques occurred in lateral mass screw. The ROM obtained from the FE results support this idea that the fusion rate of the Magerl is more than 99%. Moreover, the maximum stress occurred in each screw constructs proves the less failure possibility for the Magerl technique. Another advantage of the Magerl technique is the less number of components compared to other techniques using screw constructs. Despite the benefits of the Magerl technique, there are drawbacks to using this method such as reduction of the C1 and C2 before screw placement. Therefore, other fixation methods such as Goel-Harms and Wright techniques find the solution for the drawbacks of the Magerl technique by adding screws separately to C1 and C2. The FE model implanted with the Wright technique showed the highest maximum stress almost in all load direction.

Keywords: cervical spine, finite element model, atlantoaxial, fixation technique

Procedia PDF Downloads 356

Authors: Paula I. Buonfiglio, Carlos David Bruque, Lucia Salatino, Vanesa Lotersztein, Sebastián Menazzi, Paola Plazas, Ana Belén Elgoyhen, Viviana Dalamón

Abstract:

Hearing loss (HL) is the most prevalent sensorineural disorder affecting about 10% of the global population, with more than half due to genetic causes. About 1 in 500-1000 newborns present congenital HL. Most of the patients are non-syndromic with an autosomal recessive mode of inheritance. To date, more than 100 genes are related to HL. Therefore, the Whole-exome sequencing (WES) technique has become a cost-effective alternative approach for molecular diagnosis. Nevertheless, new challenges arise from the detection of novel variants, in particular missense changes, which can lead to a spectrum of genotype-to-phenotype correlations, which is not always straightforward. In this work, we aimed to identify the genetic causes of HL in isolated and familial cases by designing a multistep approach to analyze target genes related to hearing impairment. Moreover, we performed in silico and in vivo analyses in order to further study the effect of some of the novel variants identified in the hair cell function using the zebrafish model. A total of 650 patients were studied by Sanger Sequencing and Gap-PCR in GJB2 and GJB6 genes, respectively, diagnosing 15.5% of sporadic cases and 36% of familial ones. Overall, 50 different sequence variants were detected. Fifty of the undiagnosed patients with moderate HL were tested for deletions in STRC gene by Multiplex ligation-dependent probe amplification technique (MLPA), leading to 6% of diagnosis. After this initial screening, 50 families were selected to be analyzed by WES, achieving diagnosis in 44% of them. Half of the identified variants were novel. A missense variant in MYO6 gene detected in a family with postlingual HL was selected to be further analyzed. A protein modeling with AlphaFold2 software was performed, proving its pathogenic effect. In order to functionally validate this novel variant, a knockdown phenotype rescue assay in zebrafish was carried out. Injection of wild-type MYO6 mRNA in embryos rescued the phenotype, whereas using the mutant MYO6 mRNA (carrying c.2782C>A variant) had no effect. These results strongly suggest the deleterious effect of this variant on the mobility of stereocilia in zebrafish neuromasts, and hence on the auditory system. In the present work, we demonstrated that our algorithm is suitable for the sequential multigenic approach to HL in our cohort. These results highlight the importance of a combined strategy in order to identify candidate variants as well as the in silico and in vivo studies to analyze and prove their pathogenicity and accomplish a better understanding of the mechanisms underlying the physiopathology of the hearing impairment.

Keywords: diagnosis, genetics, hearing loss, in silico analysis, in vivo analysis, WES, zebrafish

Procedia PDF Downloads 60

Authors: Neeraj Vij, Amber Brennan, Jenni Winters, Hadi Salehi, Hamy Temkit, Emily Andrisevic, Mohan V. Belthur

Abstract:

Idiopathic clubfoot is a common lower extremity deformity with an incidence of 1:500. The Ponseti Method is well known as the gold standard of treatment. However, there is limited functional data demonstrating correction of the clubfoot after treatment with the Ponseti method. The purpose of this study was to study the clinical and functional outcomes after the Ponseti method with the Clubfoot Disease-Specific Instrument (CDS) and pedobarography. This IRB-approved prospective study included patients aged 3-18 who were treated for idiopathic clubfoot with the Ponseti method between January 2008 and December 2018. Age-matched controls were identified through siblings of clubfoot patients and other community members. Treatment details were collected through a chart review of the included patients. Laboratory assessment included a physical exam, gait analysis, and pedobarography. The Pediatric Outcomes Data Collection Instrument and the Clubfoot Disease-Specific Instrument were also obtained on clubfoot patients (CF). The Wilcoxson rank-sum test was used to study differences between the CF patients and the typically developing (TD) patients. Statistical significance was set at p < 0.05. There were a total of 37 enrolled patients in our study. 21 were priorly treated for CF and 16 were TD. 94% of the CF patients had bilateral involvement. The age at the start of treatment was 29 days, the average total number of casts was seven to eight, and the average total number of casts after Achilles tenotomy was one. The reoccurrence rate was 25%, tenotomy was required in 94% of patients, and ≥1 tenotomy was required in 25% of patients. There were no significant differences between step length, step width, stride length, force-time integral, maximum peak pressure, foot progression angles, stance phase time, single-limb support time, double limb support time, and gait cycle time between children treated with the Ponseti method and typically developing children. The average post-treatment Pirani and Dimeglio scores were 5.50±0.58 and 15.29±1.58, respectively. The average post-treatment PODCI subscores were: Upper Extremity: 90.28, Transfers: 94.6, Sports: 86.81, Pain: 86.20, Happiness: 89.52, Global: 88.6. The average post-treatment Clubfoot Disease-Specific Instrument scores subscores were: Satisfaction: 73.93, Function: 80.32, Overall: 78.41. The Ponseti Method has a very high success rate and remains to be the gold standard in the treatment of idiopathic clubfoot. Timely management leads to good outcomes and a low need for repeated Achilles tenotomy. Children treated with the Ponseti method demonstrate good functional outcomes as measured through pedobarography. Pedobarography may have clinical utility in studying congenital foot deformities. Objective measures for hours of brace wear could represent an improvement in clubfoot care.

Keywords: functional outcomes, pediatric deformity, patient-reported outcomes, talipes equinovarus

Procedia PDF Downloads 54

Authors: Nadezhda F. Mikahailova, Margarita E. Fattakhova, Mirgarita A. Mironova, Ekaterina V. Vyacheslavova, Vladimir A. Mikahailov

Abstract:

Stigma is a significant obstacle to the successful adaptation of deaf students to the conditions of an educational institution, especially for those who study in inclusion. The aim of the study was to identify the spheres of life which are the most significant for developing of the stigma of deaf students; to assess the influence of factors associated with deafness on the degree of their self-stigmatization (time and degree of hearing loss, type of education - inclusion / differentiation) and to find out who is more prone to stigma - which characteristics of personality, identity, mental health and coping are specific for those deaf who demonstrates stigmatizing attitudes. The study involved 154 deaf and hard-of-hearing students (85 male and 69 female) aged from 18 to 45 years - 28 students of the Herzen State Pedagogical University (St. Petersburg), who study in inclusion, 108 students of the National Research Technological University and 18 students of the Aviation Technical College (Kazan) - students in groups with a sign language interpreter. We used the following methods: modified questionnaire 'Self-assessment and coping strategies' (Jambor & Elliot, 2005), Scale of self-esteem (Rosenberg et al, 1995), 'Big-Five' (Costa&McCrae, 1997), TRF (Becker, 1989), WCQ (Lazarus & Folkman, 1988), self-stigma scale (Mikhailov, 2008). The severity of self-stigmatization of deaf and hard of hearing students was determined by the degree of deafness and the time they live with hearing loss, learning conditions, the type of self-identification (acculturation), personality traits, and the specifics of coping behavior. Persons with congenital hearing loss more often noted a benevolent and sympathetic attitude towards them on the part of the hearers and less often, due to deafness, limited themselves to visiting public places than late deaf people, which indicates 'get rid of' the experience of their defect and normalization of the state. Students studying in conditions of inclusion more often noted the dismissive attitude of society towards deaf people. Individuals with mild to moderate hearing loss were more likely to fear marriage and childbearing because of their deafness than students with profound hearing loss. Those who considered themselves disabled (49% of all respondents) were more inclined to cope with seeking social support and less used 'distancing' coping. Those who believed that their quality of life and social opportunities were most influenced by the attitude of society towards the deaf (39%) were distinguished by a less pronounced sense of self-worth, a desire for autonomy, and frequent usage of 'avoidance' coping strategies. 36.4% of the respondents noted that there have been situations in their lives when people learned that they are deaf, began to treat them worse. These respondents had predominantly deaf acculturation, but more often, they used 'bicultural skills,' specific coping for the deaf, and had a lower level of extraversion and emotional stability. 31.2% of the respondents tried to hide from others that they have hearing problems. They considered themselves to be in a culture of hearing, used coping strategies 'bicultural skills,' and had lower levels of extraversion, cooperation, and emotional stability. Acknowledgment: Supported by the RFBR № 19-013-0040

Keywords: acculturation, coping, deafness, stigmatization

Procedia PDF Downloads 183

Authors: Lauren Dhugga, Meena Parameswaran, David Blundell, Abbas Khushnood

Abstract:

Context: A multidisciplinary weekly safety briefing was implemented at the Paediatric Cardiothoracic Unit at the Freeman Hospital in Newcastle-upon-Tyne. It is a tertiary referral centre with a quarternary cardiac paediatric intensive care unit and provides complexed care including heart and lung transplants, mechanical support and advanced heart failure assessment. Aim: The aim of this briefing is to provide a structured platform of communication, in an effort to improve efficiency, safety, and patient care. Problem: The paediatric cardiothoracic unit is made up of a vast multidisciplinary team including doctors, intensivists, anaesthetists, surgeons, specialist nurses, echocardiogram technicians, physiotherapists, psychologists, dentists, and dietitians. It provides care for children with congenital and acquired cardiac disease and is one of only two units in the UK to offer paediatric heart transplant. The complexity of cases means that there can be many teams involved in providing care to each patient, and frequent movement of children between ward, high dependency, and intensive care areas. Currently, there is no structured forum for communicating important information across the department, for example, staffing shortages, prescribing errors and significant events. Strategy: An initial survey questioning the need for better communication found 90% of respondents agreed that they could think of an incident that had occurred due to ineffective communication, and 85% felt that incident could have been avoided had there been a better form of communication. Lastly, 80% of respondents felt that a weekly 60 second safety briefing would be beneficial to improve communication within our multidisciplinary team. Based on those promising results, a weekly 60 second safety briefing was implemented to be conducted on a Monday morning. The safety briefing covered four key areas (SAFE): staffing, awareness, fix and events. This was to highlight any staffing gaps, any incident reports to be learned from, any issues that required fixing and any events including teachings for the week ahead. The teams were encouraged to email suggestions or issues to be raised for the week or to approach in person with information to add. The safety briefing was implemented using change theory. Effect: The safety briefing has been trialled over 6 weeks and has received a good buy in from staff across specialties. The aim is to embed this safety briefing into a weekly meeting using the PDSA cycle. There will be a second survey in one month to assess the efficacy of the safety briefing and to continue to improve the delivery of information. The project will be presented at the next clinical governance briefing to attract wider feedback and input from across the trust. Lessons: The briefing displays promise as a tool to improve vigilance and communication in a busy multi-disciplinary unit. We have learned about how to implement quality improvement and about the culture of our hospital - how hierarchy influences change. We demonstrate how to implement change through a grassroots process, using a junior led briefing to improve the efficiency, safety, and communication in the workplace.

Keywords: briefing, communication, safety, team

Procedia PDF Downloads 108

Authors: Maria L. G. Lourenço, Keylla H. N. P. Pereira, Viviane Y. Hibaru, Fabiana F. Souza, João C. P. Ferreira, Simone B. Chiacchio, Luiz H. A. Machado

Abstract:

The neonatal care of cats and dogs represents a challenge to veterinarians due to the small size of the newborns and their physiological particularities. In addition, many Veterinary Medicine colleges around the world do not include neonatology in the curriculum, which makes it less likely for the veterinarian to have basic knowledge regarding neonatal care and worsens the clinical care these patients receive. Therefore, lack of assistance and negligence have become frequent in the field, which contributes towards the high mortality rates. This study aims at describing cases and the main conditions pertaining to the neonatology clinical routine in cats and dogs, highlighting the importance of specialized care in this field of Veterinary Medicine. The study included 808 neonates admitted to the São Paulo State University (UNESP) Veterinary Hospital, Botucatu, São Paulo, Brazil, between January 2018 and November 2019. Of these, 87.3% (705/808) were dogs and 12.7% (103/808) were cats. Among the neonates admitted, 57.3% (463/808) came from emergency c-sections due to dystocia, 8.7% (71/808) cane from vaginal deliveries with obstetric maneuvers due to dystocia, and 34% (274/808) were admitted for clinical care due to neonatal conditions. Among the neonates that came from emergency c-sections and vaginal deliveries, 47.3% (253/534) was born in respiratory distress due to severe hypoxia or persistent apnea and required resuscitation procedure, such as the Jen Chung acupuncture point (VG26), oxygen therapy with mask, pulmonary expansion with resuscitator, heart massages and administration of emergency medication, such as epinephrine. On the other hand, in the neonatal clinical care, the main conditions and alterations observed in the newborns were omphalophlebitis, toxic milk syndrome, neonatal conjunctivitis, swimmer puppy syndrome, neonatal hemorrhagic syndrome, pneumonia, trauma, low weight at birth, prematurity, congenital malformations (cleft palate, cleft lip, hydrocephaly, anasarca, vascular anomalies in the heart, anal atresia, gastroschisis, omphalocele, among others), neonatal sepsis and other local and systemic bacterial infections, viral infections (feline respiratory complex, parvovirus, canine distemper, canine infectious traqueobronchitis), parasitical infections (Toxocara spp., Ancylostoma spp., Strongyloides spp., Cystoisospora spp., Babesia spp. and Giardia spp.) and fungal infections (dermatophytosis by Microsporum canis). The most common clinical presentation observed was the neonatal triad (hypothermia, hypoglycemia and dehydration), affecting 74.6% (603/808) of the patients. The mortality rate among the neonates was 10.5% (85/808). Being knowledgeable about neonatology is essential for veterinarians to provide adequate care for these patients in the clinical routine. Adding neonatology to college curriculums, improving the dissemination of information on the subject, and providing annual training in neonatology for veterinarians and employees are important to improve immediate care and reduce the mortality rates.

Keywords: neonatal care, puppies, neonatal, conditions

Procedia PDF Downloads 197