Search results for: congenital adrenal hyperplasia (CAH)

Authors: Kusmayadi Ita Nursita, Sundoro Ali

Abstract:

Cleft lip and palate are one of the most common congenital abnormalities in the face. It could happen to anyone, but mostly affect Asian population including Indonesia. Factors that influence the occurrence of cleft lip and palate vary from genetic to environmental factors. Children with cleft lip and palate will often have various problems such as airway disorders, eating disorders, speech and language developmental disorders, hearing disorders and psycho-social disorders, one of which is caused by appearance disorders. During his life, the child will experience multidisciplinary surgery and non-surgical treatment and can be accompanied by a psychological and financial burden on himself and his family. In Indonesia, there are no detailed scientific data on the prevalence and characteristic of cleft lip and palate patients. It was mainly caused by the absence of a national level organization, differences in geographical location, and the absence of national guidelines. This study aimed to describe the characteristic and prevalence of cleft lip and palate patients in Bandung Cleft Lip and Palate Center from 1 January 2016 to 31 December 2017. A total of 560 patients were included in the study. The highest percentage of cases are left unilateral cleft lip and palate with higher number of female patient and labioplasty as the most often surgical procedure to be conducted in Bandung Cleft Lip and Palate Center. In order to improve quality of life in patients with cleft lip and palate, early recognition and early treatment based on actual comprehensive data should be conducted. The data from Bandung Cleft Lip and Palate Center as one of the largest center of cleft lip and palate in West Java Indonesia hopefully could provide a big step of further comprehensive data collection in Indonesia and for the better overall management of cleft lip and palate in the future.

Keywords: cleft lip, cleft palate, characteristic, prevalence

Procedia PDF Downloads 113

Authors: Titap Yazicioglu

Abstract:

Purpose: To determine the etiological factors responsible for the eye removal surgery and to evaluate our surgical results. Material and Methods: Medical records of 226 patients, who underwent eye removal surgery, were analyzed retrospectively. Demographic information, clinical history, surgical procedure, and histopathological data were all collected. Evisceration surgery was performed under general anesthesia in all patients except tumor cases and one patient with rhino-orbital mucormycosis. The patients were followed for an average of 16.46±10.78 months and checked for the possible complications, cosmesis, and functional results.Results: 144 men, and 82 women,with a mean age of 41.78±22.6 years, were underwent enucleation (n=15) or evisceration (n=211) due to traumatic (n=169) and non-traumatic (n=57) causes. In the traumatic group, 79.8% of 169 patients were injured by penetrating and 14.2% by blunt trauma.3.6% of the patients were injured in a traffic accident, and 2.4% of them were injured by explosives. In the non-traumatic group, 40% of 25 patients had post-traumatic endophthalmitis, 32% had endophthalmitis due to corneal ulceration and melting, and 24% had endophthalmitis after cataract surgery. One patient had panophthalmitis due to rhino-orbital mucormycosis. Another cause in the non-traumatic group was glaucoma, of which 92.3% had neovascular glaucoma, and 8.7% had congenital glaucoma. Of the 14 patients who were enucleated for tumor, 35.7% had retinoblastoma, 14.3% had medulloepithelioma, 42.9% had uveal melanoma, and 7.1% had metastatic tumor from paranasal sinuses.The most common complaint in the follow-up period was discharging, seen in all prosthesis-wearing patients. 13.3% of the patients had itching due to ocular prosthesis. 4.4% of the patients were complaining about deep superior sulcus. 4.4% had pyogenic granuloma, and 17.8% had implant exposure. Conclusion: Etiological factors should be carefully evaluated, and precautions should be taken in order to reduce the devastating effect of the physical loss of the eye.

Keywords: enucleation, evisceration, ocular injury, etiology, frequency

Procedia PDF Downloads 71

Authors: Jagruti Barot

Abstract:

The textile industry plays a major role in the economy of India and on the other side of the coin it is the major source for water pollution. As azo dyes is the largest dye class they are extensively used in many fields such as textile industry, leather tanning industry, paper production, food, colour photography, pharmaceuticals and medicine, cosmetic, hair colourings, wood staining, agricultural, biological and chemical research etc. In addition to these, they can have acute and/or chronic effects on organisms depending on their concentration and length of exposure when they discharged as effluent in the environment. The aim of this study was to assess the genotoxic and histotoxic potentials of environmentally relevant concentrations of RR 120 on Catla catla, important edible freshwater fingerlings. For this, healthy Catla catla fingerlings were procured from the Government Fish Farm and acclimatized in 100 L capacity and continuously aerated glass aquarium in laboratory for 15 days. According to APHA some physic-chemical parameters were measured and maintained such as temperature, pH, dissolve oxygen, alkalinity, total hardness. Water along with excreta had been changed every 24 hrs. All fingerlings were fed artificial food palates once a day @ body weight. After 15 days fingerlings were grouped in 5 (10 in each) and exposed to various concentrations of RR 120 (Control, 10, 20, 30 and 40 mg/L) and samples (peripheral blood and gills, kidney) were collected and analyzed at 96 hrs. of interval. All results were compared with the control. Micronuclei (MN), nuclear buds (NB), fragmented-apoptotic (FA) and bi-nucleated (BN) cells in blood cells and in tissues (gills and kidney cells) were observed. Prominent histopathological alterations were noticed in gills such as aneurism, hyperplasia, degenerated central axis, lifting of gill epithelium, curved secondary gill lamellae etc. Similarly kidney showed some detrimental changes like shrunken glomeruli with increased periglomerular space, degenerated renal tubules etc. Both haematological and histopathological changes clearly reveal the toxic potential of RR 120. This work concludes that water pollution assessment can be done by these two biomarkers which provide baseline to the further chromosomal or molecular work.

Keywords: micronuclei, genotoxicity, RR 120, Catla catla

Procedia PDF Downloads 183

Authors: Neslihan Demirci, Serdar Durdağı

Abstract:

Mycobacterium tuberculosis is still a worldwide disease-causing agent that, according to WHO, led to the death of 1.5 million people from tuberculosis (TB) in 2020. The bacteria reside in macrophages located specifically in the lung. There is a known quadruple drug therapy regimen for TB consisting of isoniazid (INH), rifampin (RIF), pyrazinamide (PZA), and ethambutol (EMB). Over the past 60 years, there have been great contributions to treatment options, such as recently approved delamanid (OPC67683) and bedaquiline (TMC207/R207910), targeting mycolic acid and ATP synthesis, respectively. Also, there are natural compounds that can block the tryptophanyl-tRNA synthetase (TrpRS) enzyme, chuangxinmycin, and indolmycin. Yet, already the drug resistance is reported for those agents. In this study, the newly released TrpRS enzyme structure is investigated for potential inhibitor drugs from already synthesized molecules to help the treatment of resistant cases and to propose an alternative drug for the quadruple drug therapy of tuberculosis. Maestro, Schrodinger is used for docking and molecular dynamic simulations. In-house library containing ~8000 compounds among FDA-approved indole-containing compounds, a total of 57 obtained from the ChemBL were used for both ATP and tryptophan binding pocket docking. Best of indole-containing 57 compounds were subjected to hit expansion and compared later with virtual screening workflow (VSW) results. After docking, VSW was done. Glide-XP docking algorithm was chosen. When compared, VSW alone performed better than the hit expansion module. Best scored compounds were kept for ten ns molecular dynamic simulations by Desmond. Further, 100 ns molecular dynamic simulation was performed for elected molecules according to Z-score. The top three MMGBSA-scored compounds were subjected to steered molecular dynamic (SMD) simulations by Gromacs. While SMD simulations are still being conducted, ponesimod (for multiple sclerosis), vilanterol (β₂ adrenoreceptor agonist), and silodosin (for benign prostatic hyperplasia) were found to have a significant affinity for tuberculosis TrpRS, which is the propulsive force for the urge to expand the research with in vitro studies. Interestingly, top-scored ponesimod has been reported to have a side effect that makes the patient prone to upper respiratory tract infections.

Keywords: drug repurposing, molecular dynamics, tryptophanyl-tRNA synthetase, tuberculosis

Procedia PDF Downloads 85

Authors: Sahar Essa, Hussain A. Safar, Raj Raghupathy

Abstract:

Human cytomegalovirus (CMV) continues to be a source of severe complications in immunologically immature and immunocompromised hosts. Effective CMV vaccines that help diminish CMV disease in transplant patients and avoid congenital infection are of great importance. Though the exact roles of defense mechanisms are unidentified, viral-specific antibodies and cytokine responses are known to be involved in controlling CMV infections. CMV envelope glycoprotein B (UL55/gB), matrix proteins (UL83/pp65, UL99/pp28, UL32/pp150), and assembly protein UL80a/pp38 are known to be targets of antiviral immune responses. We immunized mice intraperitoneally with these five CMV-related proteins (commercial) for their ability to induce specific antibody responses (in-house immunoassay) and cytokine production (commercial assay) in a mouse model. We observed a significant CMV-antigen-specific antibody response to pp38 and pp65 (E/C ˃2.0, p˂0.001). Mice immunized with pp38 had significantly higher concentrations of GM-CSF, IFN-α, IL-2 IL-4, IL-5, and IL-17A (p˂0.05). Mice immunized with pp65 showed significantly higher concentrations of GM-CSF, IFN-γ, IL-2 IL-4, IL-10, IL-12, IL-17A, and TNF-α. Th1 to Th2 cytokines ratios revealed a Th1 cytokine bias in mice immunized with pp38, pp65, pp150, and gB. We suggest that stimulation with multiple CMV-related proteins, which include pp38, pp65, and gB antigens, will allow both humoral and cellular immune responses to be efficiently activated, thus serving as appropriate CMV antigens for future vaccines.

Keywords: cytomegalovirus, UL99/pp28, UL80a/pp38, UL83/pp65, UL32/pp150, UL55/gB, CMV-antigen-specific antibody, CMV antigen-specific cytokine responses

Procedia PDF Downloads 55

Authors: L. C. Prasanna, Antony Sylvan D’Souza, Kumar M. R. Bhat

Abstract:

Although life as a conjoined twin would seem intolerable, there has recently been an increased interest in this subject because of the increasing number of cases where attempts have been made to separate them surgically. We have reviewed articles on cardiovascular anomalies in conjoined twins and presenting rarest anomaly in dicephalus parapagus fetus having two heads attached to one body from the neck or upper chest downwards, with a pair of limbs and a set of reproductive organs. Both the twins shared a common thoracic cavity with a single sternum. When the thoracic cavity was opened, a common anterior mediastinum was found. On opening the pericardium, two separate, closely apposed hearts were exposed. The two cardia are placed side by side. The left heart was slightly larger than the right and were joined at the atrial levels. Four atrial appendages were present, two for each twin. The atrial complex was a common chamber posterior to the ventricles. A single large tributary which could be taken as inferior vena cava drains into the common atrial chamber. In this case, the heart could not be assigned to either twin and therefore, it is referred to as the shared heart within a common pericardial sac. The right and left descending thoracic aorta have joined with each other just above the diaphragm to form a common descending thoracic aorta which has an opening in the diaphragm to be continued as common abdominal aorta which has a normal branching pattern. Upon an interior dissection, it is observed that the two atria have a wide communication which could be a wide patent foramen ovale and this common atrial cavity has a communication with a remnant of a possible common sinus venosus.

Keywords: atrium, congenital anomaly, conjoined twin, sinus venosus

Procedia PDF Downloads 366

Authors: Bhawana, Roshan Kamal Topno, Maneesh Kumar, Major Madhukar, Krishna Pandey, Ganesh Chandra Sahoo, Manas Ranjan Dikhit, Surya Suman, Devendra Prasad Yadav, Rishikesh Kumar, Pradeep Das

Abstract:

Viral co-infection is now very common across taxa and environments that are involved in congenital infections. Herpes simplex virus (HSV) and Rubella are the two serious viral infections, well categorized in TORCH Syndrome. Here we had endeavoured the seroprevalence of co-infection of HSV and Rubella. Systematic tests have been performed to check the virulence pattern of the co-infection. The study was conducted at Department of Virology, Rajendra Memorial Research Institute of Medical Sciences (ICMR), Patna, Bihar, India during January 2018-July 2018. 299 newly cases were attended with the sign and symptoms of HSV and Rubella. After taking written consent forms from all the subjects, blood samples were collected for serological detection. ELISA was performed to detect the presence of IgM antibody level. 12 patients were found to be IgM positive from each HSV and Rubella infection. The findings of our study showed that 6 patients were positive for both HSV and rubella and hence were co-infected. Such co-infection causes severe health problems as it leads to the mortality rate of the patients during viral infectivity. Epidemiologically, proper screening should be needed to check any chance of occurrence of such co-infection in the affected regions in large scale and take suitable preventive approach to decrease the case totality. Concern has to be given to aid proper diagnosis and treatment in order to decrease the spread of HSV and Rubella co-infection.

Keywords: HSV, Rubella, seroprevalence, co-infection, ELISA, viral infectivity

Procedia PDF Downloads 185

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 mortality rates in dogs are considered high, varying between 5.7 and 21.2% around the world, and the causes of the deaths are often unknown. Data regarding canine neonatal mortality are scarce in Brazil. This study aims at describing the neonatal mortality rates in dogs, as well as the main causes of death. The study included 152 litters and 669 neonates admitted to the São Paulo State University (UNESP) Veterinary Hospital, Botucatu, São Paulo, Brazil between January 2018 and September 2019. The overall mortality rate was 16.7% (112/669), with 40% (61/152) of the litters presenting at least one case of stillbirth or neonatal mortality. The rate of stillbirths was 7.7% (51/669), while the neonatal mortality rate was 9% (61/669). The early mortality rate (0 to 2 days) was 13.7% (92/669), accounting for 82.1% (92/112) of all deaths. The late mortality rate (3 to 30 days) was 2.7% (18/669), accounting for 16% (18/112) of all deaths. Infection was the causa mortis in 51.8% (58/112) of the newborns, of which 30.3% (34/112) were caused by bacterial sepsis, and 21.4% (24/112) were caused by other bacterial, viral or parasite infections. Other causes of death included congenital malformations (15.2%, 17/112), of which 5.3% (6/112) happened through euthanasia due to malformations incompatible with life; asphyxia/hypoxia by dystocia (9.8%, 11/112); wasting syndrome in debilitated newborns (6.2%, 7/112); aspiration pneumonia (3.6%, 4/112); agalactia (2.7%, 3/112); trauma (1.8%, 2/112); administration of contraceptives to the mother (1.8%, 2/112) and unknown causes (7.1%, 8/112). The neonatal mortality rate was considered high, but they may be even higher in locations without adequate care for the mothers and neonates. Therefore, prenatal examinations and early neonatal care are of utmost importance for the survival of these patients.

Keywords: neonate dogs, puppies, mortality rate, neonatal death

Procedia PDF Downloads 173

Authors: Omar bin Mihat

Abstract:

The number of sudden deaths is increasing over the past years. These deaths occur not during physical activities but upon cessation. Post-mortem confirms these deaths as cardiac arrest non-specifically. Congenital heart disease is a condition undiagnosed whereby only surface upon physical exertion leading to sudden death is unavoidable. Channelopathy, a condition that refers to any disease from the defect in iron-channel function, particularly the sodium-potassium pump, during the cessation of the exercise can be controlled. The derivation of heart rate return (HRrtn) is a procedure of a control cooling down process according to the heart rate (HR). Empirically, potassium rises linearly with intensity and falls sharply upon abrupt cessation of exertion, resulting in fatal arrhythmia due to hypokalaemia. It is vital that the flux of potassium should be maintained within the normal range during physical activities. To achieve this, the dosage of physical exertion (exercise) should be identified. Various percentages of the intensity of maximum heart rate (MHR) will precipitate different adaptations and remodeling of various organs. 70% of MHR will surface physiological adaptations, including enhancement of endurance, fitness level, and general health, and there was no significant rise of serum potassium (K+) during the entire phase of the treadmill brisk walk at a different rate of perceived exertion (RPE) from the subject of various fitness background. There was also no significant rise in blood pressure (BP) during the entire phase of the treadmill brisk walk, substantiating 70% MHR is the safe dosage across different parameters of health and fitness level.

Keywords: potassium, maximal heart rate, exercise dosage, fitness level

Procedia PDF Downloads 32

Authors: Ebtisam A. Benomran, Abdurrauf M. Gusbi, Malak S. Elazarg, M. Sultan, Layla M. Kafu, Arwa M. Matoug, Esra E. Benamara

Abstract:

Normal pregnancy is associated with metabolic changes leading to decreased insulin sensitivity and reduced glucose tolerance, however, 3-5% of pregnant women proceed to develop gestational diabetes mellitus (GDM). Researcher studied the use of metformin in many fields and the benefit to risk balance of using metformin during pregnancy and the risk of fetotoxic. In this study we examined the use of Metformin to control Glucose in pregnant Women with gestational diabetes mellitus (GDM) and evaluate its safety use during the first trimester of pregnancy.A group of pregnant patients with gestational diabetes mellitus from the first trimester of pregnancy, non smoking with no family history of congenital malformation disease, aged between (20-45 years) and have no liver diseases and who had indicating good compliance at more than one visit over several month until delivery put on Metformin were participated in this trial. Our study shown that all the studied group of pregnant women using metformin 500 mg daily delivered a healthy babies. Meta-analysis by mother risk program showed no increase in incidence of malformations by use Metformin during the first trimester of pregnancy. A hundred outpatients were participated in the survey on the general knowledge and awareness of diabetic patients to their illness and medication used their aged between 20-40 years old. In this survey we realize that 90% of the doctors are not giving the patient full information about their illness and the use of metformin during pregnancy, also about 65% of the patients did not know about the nutritionist in the hospital and the right control diet for diabetes. Courses on first aid, rapid diagnosis of poisoning and follow the written procedures to dealing with such cases.

Keywords: gestational diabetes, malformations, metformin, pregnancy

Procedia PDF Downloads 460

Authors: Mihai-Ionut Firescu, Mark A. P. Carson

Abstract:

We present a case of inferior vena cava agenesis (IVCA) associated with bilateral deep venous thrombosis (DVT) in a patient with Beckwith-Wiedemann syndrome (BWS). In adult patients with BWS presenting with bilateral lower limb oedema, specific aetiological factors should be considered. These include cardiomyopathy and intraabdominal tumours. Congenital malformations of the IVC, through causing relative venous stasis, can lead to lower limb oedema either directly or indirectly by favouring lower limb venous thromboembolism; however, they are yet to be reported as an associated feature of BWS. Given its life-threatening potential, the prompt initiation of treatment for bilateral DVT is paramount. In BWS patients, however, this can prove more complicated. Due to overgrowth, the above-average birth weight can continue throughout childhood. In this case, the patient’s weight reached 170 kg, impacting on anticoagulation choice, as direct oral anticoagulants have a limited evidence base in patients with a body mass above 120 kg. Furthermore, the presence of IVCA leads to a long-term increased venous thrombosis risk. Therefore, patients with IVCA and bilateral DVT warrant specialist consideration and may benefit from multidisciplinary team management, with hematology and vascular surgery input. Conclusion: Here, we showcased a rare cause for bilateral lower limb oedema, respectively bilateral deep venous thrombosis complicating IVCA in a patient with Beckwith-Wiedemann syndrome. The importance of this case lies in its novelty, as the association between IVC agenesis and BWS has not yet been described. Furthermore, the treatment of DVT in such situations requires special consideration, taking into account the patient’s weight and the presence of a significant, predisposing vascular abnormality.

Keywords: Beckwith-Wiedemann syndrome, bilateral deep venous thrombosis, inferior vena cava agenesis, venous thromboembolism

Procedia PDF Downloads 194

Authors: Ibrahima Farikou, Kolontchang Gatchou Alberic Lionel, Tsiagadgui Jean Gustave, Ngo Yamben Marie-Ange, Handy Eone Daniel

Abstract:

Introduction: It was in 1956 that Ilizarov pioneered the concept of osteogenesis in distraction by the device that bears his name to help produce bone and soft tissue regeneration and bone consolidation. This technique is not widely used in Africa where, however, its applications are numerous (loss of bone substances, congenital or acquired malformations). Our goal is to bring the indications of Ilizarov's device back to our practice conditions. Methods: Our study was conducted in 2 hospitals over a period of 20 years. For the retrospective phase, this study included all complete usable records of patients operated on in the Ilizarov external fixator department, and for the prospective phase, all patients operated on in the departments with complete usable records. Our sample was consecutive and not exhaustive. Data were analyzed by SPSS software version 23.0. Results: A total of 52 patients were reviewed. The average age of our patients was 14.7 years. The sex ratio was 1.6 in favor of men. The lower limb was the most affected (49), with a predominance of the tibia (62.4%). The average elongation was 6.4 cm. Traumatic acquired pathologies (delayed union, malunion) represented 60.6%. The mean time to union was seven months. Correction of the limb length discrepancy or filling of loss of bone substance was obtained in 75% of cases. Functionally, 80.8% of the patients treated had regained autonomy at the end of treatment, but in 17.3% of the patients, pain and limping persisted. Conclusion: This technique should be popularized in Africa because the benefit that would accrue to patients is invaluable and would be an attractive alternative to many amputations sometimes carried out in Africa by despair.

Keywords: ilizarov, external fixator, limb lengthening, bone regeneration, africa

Procedia PDF Downloads 61

Authors: Komal Khan, Hafsa Zaneb, Saima Masood, Muhammad Younus, Sanan Raza

Abstract:

Cigarette smoke induces many physiological and pathological changes in respiratory tract like goblet cell hyperplasia and regional distention of airspaces. It is also associated with elevation of inflammatory profiles in different airway compartments. As probiotics are generally known to promote mucosal tolerance, it was postulated that prophylactic use of probiotics can be helpful in reduction of respiratory damage induced by cigarette smoke exposure. Twenty-four adult mice were randomly divided into three groups (cigarette-smoke (CS) group, cigarette-smoke+ Lactobacillus (CS+ P) group, control (Cn) group), each having 8 mice. They were exposed to cigarette smoke for 28 days (6 cigarettes/ day for 6 days/week). Wright-Giemsa staining of bronchoalveolar lavage fluid (BALF) was performed in three mice per group. Tissue samples of trachea and lungs of 7 mice from each group were processed by paraffin embedding technique for haematoxylin & eosin (H & E) and alcian blue- periodic acid-Schiff (AB-PAS) staining. Then trachea (goblet cell number, ratio and loss of cilia) and lungs (airspace distention) were studied. The results showed that the number of goblet cells was increased in CS group as a result of defensive mechanism of the respiratory system against irritating substances. This study also revealed that the cells of CS group having acidic glycoprotein were found to be higher in quantity as compared to those containing neutral glycoprotein. However, CS + P group showed a decrease in goblet cell index due to enhanced immunity by prophylactically used probiotics. Moreover, H & E stained tracheas showed significant loss of cilia in CS group due to propelling of mucous but little loss in CS + P group because of having good protective tracheal epithelium. In lungs, protection of airspaces was also much more evident in CS+ P group as compared to CS group having distended airspaces, especially at 150um distance from terminal bronchiole. In addition, a comprehensive analysis of inflammatory cells population of BALF showed neutrophilia and eosinophilia was significantly reduced in CS+ P group. This study proved that probiotics are found to be useful for reduction of changes in micro-architecture of the respiratory system. Thus, dietary supplementation of probiotic as prophylactic measure can be useful in achieving immunomodulatory effects.

Keywords: cigarette smoke, probiotics, goblet cells, airspace enlargement, BALF

Procedia PDF Downloads 320

Authors: Seyed Saeid Nabavi

Abstract:

Background: Many infants with intrauterine growth disorder are screened for TORCH infections. This action has no economic justification in terms of the imposed costs. In this regard, due to the research gap in this field, this study aimed to investigate the relationship between intrauterine growth disorder and TORCH infection in neonates referred to Milad hospital in 2019 and 2020. Materials and Methods: In this cross-sectional study, 41IUGR newborns were selected and evaluated based on diagnostic and clinical studies in Milad Hospital in 2019 and 2020. TORCH results found in IgG and IgM antibody titer assay were tested in mother and infant. Antibody titers of toxoplasmosis, rubella, cytomegalovirus, herpes, and syphilis were determined in cases, and other variables were compared. The collected data were entered in SPSS software 25 and analyzed at a significant level of 0.05 using the statistical tests of Kolmogorov–Smirnov, Shapiro–Wilk, chi-square, and Mann–Whitney. Results: Most of the IUGR infants studied were girls (68.3%), Gravida and Parity were reported to be 68.3% and 80%, respectively, in the study. Mean weight, APGAR score, and neonatal gestational age are reported as 1710.62±334.43 g, 7.71±1.47, and 35.7+ 1.98 weeks, respectively. Most of the newborns were born by cesarean section (92.7%). TORCH infection was reported in three patients, 7.3%. The mean gestational age of IUGR infants with TORCH infection was reported to be less than other babies with IUGR. Therefore, the mean gestational age of subjects with TORCH infection was 33±1.4 weeks and in others 35.94±1.91 weeks (p-value = 0.038). No significant relationship between TORCH infection and gender, gravidity, and parity of newborns was found (p-value > 0.05). Conclusion: TORCH infection was reported in 3 patients( 7.3%). No significant relationship between TORCH infection and gender, gravidity, and parity of newborns was found. p-value > 0.05

Keywords: congenital infection, intrauterine growth restriction, TORCH infections, neonates

Procedia PDF Downloads 103

Authors: Nigar Sultanova

Abstract:

Facial morphology is a constant topic of concern for clinicians. When anthropometric methods were introduced into clinical practice to quantify changes in the craniofacial framework, features distinguishing various ethnic group were discovered. Normative data of facial measurements are indispensable to precise determination of the degree of deviations from normal. Establish the reference range of facial proportions in Azerbaijan population by anthropometric measurements of craniofacial complex. The study group consisted of 350 healthy young subjects, 175 males and 175 females, 18 to 25 years of age, from 7 different regions of Azerbaijan. The anthropometric examination was performed according to L.Farkas's method with our modification. In order to determine the morphologic characteristics of seven regions of the craniofacial complex 42 anthropometric measurements were selected. The anthropometric examination. Included the usage of 33 anthropometric landmarks. The 80 indices of the facial proportions, suggested by Farkas and Munro, were calculated: head -10, face - 23, nose - 23, lips - 9, orbits - 11, ears - 4. The date base of the North American white population was used as a reference group. Anthropometric measurements of facial proportions in Azerbaijan population revealed a significant difference between mеn and womеn, according to sexual dimorphism. In comparison with North American whites, considerable differences of facial proportions were observed in the head, face, orbits, labio-oral, nose and ear region. However, in women of the Azerbaijani population, 29 out of 80 proportion indices were similar to the proportions of NAW women. In the men of the Azerbaijani population, 27 out of 80 proportion indices did not reveal a statistically significant difference from the proportions of NAW men. Estimation of the reference range of facial proportions in Azerbaijan population migth be helpful to formulate surgical plan in treatment of congenital or post-traumatic facial deformities successfully.

Keywords: facial morphology, anthropometry, indices of proportion, measurement

Procedia PDF Downloads 82

Authors: Maryam Nazari, Atefeh Ghanbari, Saghar Noorinia

Abstract:

Obesity, as an abnormal or excessive accumulation of fat, is caused by genetic, behavioral and environmental factors. Recently, obesity surgeries, such as bariatric surgery, as the last measure to control obesity, have attracted experts and society, especially women, attention, so knowing the possible complications of this major surgery and their control in reproductive age is of particular importance due to its effects on pregnancy outcomes. Bariatric surgery reduces the risk of diabetes and high blood pressure associated with pregnancy, premature birth, macrosomia, stillbirth and dumping syndrome. Although in the first months after surgery, nausea and vomiting caused by changes in intra-abdominal pressure are associated with an increased risk of malabsorption of micronutrients such as folic acid, iron, vitamin B1, D, calcium, selenium and phosphorus and finally, fetal growth disorder. Moreover, serum levels of micronutrients such as vitamin D, calcium, and iron in mothers who used to have bariatric surgery and their babies have been shown to be lower than in mothers without a history of bariatric surgery. Moreover, vitamin A deficiency is shown to be more widespread in pregnancies after bariatric surgery, which leads to visual problems in newborns and premature delivery. However, complications such as the duration of hospitalization of newborns in the NICU, disease rate in the first 28 days of life and congenital anomalies are not significantly different in babies born to mothers undergoing bariatric surgery compared to the control group. In spite of the vast advantages following obesity surgeries, due to the catabolic conditions and severe weight loss followed by such major intervention and the probability of nutrients malnutrition in a pregnant woman and her baby, after having surgery, at least 12 to 18 months should be considered to get pregnant as a recovery period. In addition, taking essential supplements before and at least 6 months after this approach is recommended.

Keywords: bariatric surgery, pregnancy, malnutrition, vitamin and mineral deficiency

Procedia PDF Downloads 62

Authors: S. M. Ismail, H-H Yen, C. M. Murray, H. M. S. Davies

Abstract:

A recent study reported a 33% incidence of complete sacrocaudal fusion in greyhounds compared to a 3% incidence in other dogs. In the dog, the median sacral crest is formed by the fusion of sacral spinous processes. Separation of the 1st spinous process from the median crest of the sacrum in the dog has been reported as a diagnostic tool of type one lumbosacral transitional vertebra (LTV). LTV is a congenital spinal anomaly, which includes either sacralization of the caudal lumbar part or lumbarization of the most cranial sacral segment of the spine. In this study, the absence or reduction of fusion (presence of separation) between the 1st and 2ndspinous processes of the median sacral crest has been identified in association with sacrocaudal fusion in the greyhound, without any feature of LTV. In order to provide quantitative data on the absence or reduction of fusion in the median sacral crest between the 1st and 2nd sacral spinous processes, in association with sacrocaudal fusion. 204 dog sacrums free of any pathological changes (192 greyhound, 9 beagles and 3 labradors) were grouped based on the occurrence and types of fusion and the presence, absence, or reduction in the median sacral crest between the 1st and 2nd sacral spinous processes., Sacrums were described and classified as follows: F: Complete fusion (crest is present), N: Absence (fusion is absent), and R: Short crest (fusion reduced but not absent (reduction). The incidence of sacrocaudal fusion in the 204 sacrums: 57% of the sacrums were standard (3 vertebrae) and 43% were fused (4 vertebrae). Type of sacrum had a significant (p < .05) association with the absence and reduction of fusion between the 1st and 2nd sacral spinous processes of the median sacral crest. In the 108 greyhounds with standard sacrums (3 vertebrae) the percentages of F, N and R were 45% 23% and 23% respectively, while in the 84 fused (4 vertebrae) sacrums, the percentages of F, N and R were 3%, 87% and 10% respectively and these percentages were significantly different between standard (3 vertebrae) and fused (4 vertebrae) sacrums (p < .05). This indicates that absence of spinous process fusion in the median sacral crest was found in a large percentage of the greyhounds in this study and was found to be particularly prevalent in those with sacrocaudal fusion – therefore in this breed, at least, absence of sacral spinous process fusion may be unlikely to be associated with LTV.

Keywords: greyhound, median sacral crest, sacrocaudal fusion, sacral spinous process

Procedia PDF Downloads 415

Authors: Oliveira M., Gonçalves L., Francisco I., Caramelo F., Vale F., Sanz D., Domingues M., Lopes M., Moreia D., Lopes T., Santos T., Cardoso H.

Abstract:

The ARTHUR project consists of a platform that allows the virtual performance of maxillofacial surgeries, offering, in a photorealistic concept, the possibility for the patient to have an idea of the surgical changes before they are performed on their face. For this, the system brings together several image formats, dicoms and objs that, after loading, will generate the bone volume, soft tissues and hard tissues. The system also incorporates the patient's stereophotogrammetry, in addition to their data and clinical history. After loading and inserting data, the clinician can virtually perform the surgical operation and present the final result to the patient, generating a new facial surface that contemplates the changes made in the bone and tissues of the maxillary area. This tool acts in different situations that require facial reconstruction, however this project focuses specifically on two types of use cases: bone congenital disfigurement and acquired disfiguration such as oral cancer with bone attainment. Being developed a cloud based solution, with mobile support, the tool aims to reduce the decision time window of patient. Because the current simulations are not realistic or, if realistic, need time due to the need of building plaster models, patient rates on decision, rely on a long time window (1,2 months), because they don’t identify themselves with the presented surgical outcome. On the other hand, this planning was performed time based on average estimated values of the position of the maxilla and mandible. The team was based on averages of the facial measurements of the population, without specifying racial variability, so the proposed solution was not adjusted to the real individual physiognomic needs.

Keywords: 3D computing, image processing, image registry, image reconstruction

Procedia PDF Downloads 167

Authors: E. Nakamachi, K. Matsumoto, K. Yamamoto, Y. Morita, H. Sakamoto

Abstract:

In recently, electromagnetic and mechanical stimulations have been recognized as the effective extracellular environment stimulation technique to enhance the defected peripheral nerve tissue regeneration. In this study, we developed a new hybrid bioreactor by adopting 50 Hz uniform alternative current (AC) magnetic stimulation and 4% strain mechanical stimulation. The guide tube for nerve regeneration is mesh structured tube made of biodegradable polymer, such as polylatic acid (PLA). However, when neural damage is large, there is a possibility that peripheral nerve undergoes necrosis. So it is quite important to accelerate the nerve tissue regeneration by achieving enhancement of nerve axonal extension rate. Therefore, we try to design and fabricate the system that can simultaneously load the uniform AC magnetic field stimulation and the stretch stimulation to cells for enhancement of nerve axonal extension. Next, we evaluated systems performance and the effectiveness of each stimulation for rat adrenal pheochromocytoma cells (PC12). First, we designed and fabricated the uniform AC magnetic field system and the stretch stimulation system. For the AC magnetic stimulation system, we focused on the use of pole piece structure to carry out in-situ microscopic observation. We designed an optimum pole piece structure using the magnetic field finite element analyses and the response surface methodology. We fabricated the uniform AC magnetic field stimulation system as a bio-reactor by adopting analytically determined design specifications. We measured magnetic flux density that is generated by the uniform AC magnetic field stimulation system. We confirmed that measurement values show good agreement with analytical results, where the uniform magnetic field was observed. Second, we fabricated the cyclic stretch stimulation device under the conditions of particular strains, where the chamber was made of polyoxymethylene (POM). We measured strains in the PC12 cell culture region to confirm the uniform strain. We found slightly different values from the target strain. Finally, we concluded that these differences were allowable in this mechanical stimulation system. We evaluated the effectiveness of each stimulation to enhance the nerve axonal extension using PC12. We confirmed that the average axonal extension length of PC12 under the uniform AC magnetic stimulation was increased by 16 % at 96 h in our bio-reactor. We could not confirm that the axonal extension enhancement under the stretch stimulation condition, where we found the exfoliating of cells. Further, the hybrid stimulation enhanced the axonal extension. Because the magnetic stimulation inhibits the exfoliating of cells. Finally, we concluded that the enhancement of PC12 axonal extension is due to the magnetic stimulation rather than the mechanical stimulation. Finally, we confirmed that the effectiveness of the uniform AC magnetic field stimulation for the nerve axonal extension using PC12 cells.

Keywords: nerve cell PC12, axonal extension, nerve regeneration, electromagnetic-mechanical stimulation, bioreactor

Procedia PDF Downloads 230

Authors: Amerah Alsalem

Abstract:

Aim: Laminate veneers are restorations which are envisioned to correct existing abnormalities, esthetic deficiencies, and discolorations. Laminate veneer restorations may be processed in two different ways: direct or indirect. Materials and methods: Direct composite laminate veneers require minimal preparation compared to indirect composite veneers, cost less and are easier to repair, so are useful in young patients. However, composites can have inherent limitations such as shrinkage, limited toughness; color instability and susceptibility to wear that reduce the lifespan of the restoration and cause postoperative complications. Every new material or method introduced to the field of dentistry aims to achieve esthetics and successful dental treatments with minimal invasiveness. Therefore, direct laminate veneer restorations have been developed for advanced esthetic problems of anterior teeth. Tooth discolorations, rotated teeth, coronal fractures, congenital or acquired malformations, diastemas, discolored restorations, palatally positioned teeth, the absence of lateral incisors, abrasions and erosions are the main indications for direct laminate veneer restorations. Result: Direct veneers, as esthetic procedures, have become treatment alternatives for patients with esthetic problems of anterior teeth in recent years. The cost, social and time factors have to be considered. Although ceramic laminate veneer restorations have some advantages like color stability and high resistance against abrasion, they have also some disadvantages, including high cost and long chair time. Moreover, they have some problems such as the necessity of an additional adhesive cement. Conclusion: Although there are still some disadvantages, especially discolorations and fragility, with the development of new composite resins, direct laminate veneer restorations can be a treatment option for patients with esthetic problems of anterior teeth, when applied judiciously with good patient hygiene motivation.

Keywords: direct, veneers, composite, anterior

Procedia PDF Downloads 251

Authors: Angelis P. Barlampas

Abstract:

Theoretical background Disorders of fixation and rotation of the large intestine, result in the existence of its parts in ectopic anatomical positions. In case of symptomatology, the clinical picture is complicated by the possible symptomatology of the neighboring anatomical structures and a differential diagnostic problem arises. Target The purpose of this work is to demonstrate the difficulty of revealing the real cause of abdominal pain, in cases of anatomical variants and the decisive contribution of imaging and especially that of computed tomography. Methods A patient came to the emergency room, because of acute pain in the right hypochondrium. Clinical examination revealed tenderness in the gallbladder area and a positive Murphy's sign. An ultrasound exam depicted a normal gallbladder and the patient was referred for a CT scan. Results Flexible, unfixed ascending colon and cecum, located in the anatomical region of the right mesentery. Opacities of the surrounding peritoneal fat and a small linear concentration of fluid can be seen. There was an appendix of normal anteroposterior diameter with the presence of air in its lumen and without clear signs of inflammation. There was an impression of possible inflammatory swelling at the base of the appendix, (DD phenomenon of partial volume; e.t.c.). Linear opacities of the peritoneal fat in the region of the second loop of the duodenum. Multiple diverticula throughout the colon. Differential Diagnosis The differential diagnosis includes the following: Inflammation of the base of the appendix, diverticulitis of the cecum-ascending colon, a rare case of second duodenal loop ulcer, tuberculosis, terminal ileitis, pancreatitis, torsion of unfixed cecum-ascending colon, embolism or thrombosis of a vascular intestinal branch. Final Diagnosis There is an unfixed cecum-ascending colon, which is exhibiting diverticulitis.

Keywords: unfixed cecum-ascending colon, abdominal pain, malrotation, abdominal CT, congenital anomalies

Procedia PDF Downloads 27

Authors: S. Essa, H. Safar, R. Raghupathy

Abstract:

Human cytomegalovirus (CMV) continues to be a source of severe complications to immunologically immature and immune-compromised hosts. Effective CMV vaccine that diminishes CMV disease in transplant patients and avoids congenital infection remains of high importance as no approved vaccines exist. Though the exact links of defense mechanisms are unidentified, viral-specific antibodies and Th1/Th2 cytokine responses have been involved in controlling viral infections. CMV envelope glycoprotein B (UL55/gB), the matrix proteins (UL83/pp65, UL99/pp28, UL32/pp150), and the assembly protein UL80a/pp38 are known to be targets of antiviral immune responses. In this study, mice were immunized with five HCMV antigens (UL32/pp150, UL80a/pp38, UL99/pp28, and UL83/pp65), and serum samples were collected and evaluated for eliciting viral-specific antibody responses. Moreover, Splenocytes were collected, stimulated, and assessed for cytokine responses. The results demonstrated a CMV-antigen-specific antibody response to pp38 and pp65 (E/C >2.0). The highest titers were detected with pp38 (average E/C 16.275) followed by pp65 (average E/C 7.72). Compared to control cells, splenocytes from PP38 antigen immunized mice gave a significantly higher concentration of GM-CSF, IFN-γ, IL-2 IL-4, IL-5, and IL-17A (P<0.05). Also, splenocytes from pp65 antigen immunized mice resulted in a significantly higher concentration of GM-CSF, IFN-γ, IL-2 IL-4, IL-10, IL-12, IL-17A, and TNF- α. The designation of target CMV peptides by identifying viral-specific antibodies and cytokine responses is vital for understanding the protective immune mechanisms during CMV infection and identifying appropriate viral antigens to develop novel vaccines.

Keywords: hepatitis C virus, peripheral blood mononuclear cells, neutrophils, cytokines

Procedia PDF Downloads 101

Authors: Darshana Rathod, Kirtikumar Rathod, Kamlesh Kumari, Abhilasha Motghare

Abstract:

Background and Aims: Hypospadias is one of the common congenital anomalies in males. Various modalities are used for pain management, including caudal, penile, pudendal, ring blocks, and systemic analgesics. There has yet to be a consensus regarding the most effective and safe analgesic method for controlling pain in these children. We planned this study to determine our institute's pain management practices for hypospadias surgeries. Material and Methods: This retrospective cohort study reviewed 150 children with hypospadias undergoing surgery from January 2020 to December 2023. Data regarding the mode of pain management, postoperative opioid requirement, PACU discharge, and complications was collected from the records. Results: For postoperative pain, 33 (22%) children received caudal block, 60 (40%) penile block, and 57 (38%) were managed by intravenous analgesics. A significant difference was found in the three groups, with the IV analgesic group requiring significantly higher opioid boluses in PACU [43 (75.4%) required two boluses (p < 0.05)]. The difference in PACU discharge time among the three groups was statistically significant (p< 0.05), with IV analgesics groups having the highest (55 mins [47, 60]), the Caudal group at 35mins (30, 40), and the dorsal penile block group at 35mins (25, 40). There was no significant difference in complications like edema, meatal stenosis, urethra-cutaneous fistula, or wound dehiscence among all three groups. Conclusion: Intravenous analgesics and regional blocks like caudal and penile blocks are the common pain management modalities in our institute. The regional blocks are effective in managing pain in the postoperative period and are not significantly associated with complications.

Keywords: caudal block, hypospadias, pain management, penile block

Procedia PDF Downloads 6

Authors: O. C. Abbah, O. Obidoa, J. Omale

Abstract:

Prostate tumor is fast becoming a leading cause of morbidity and mortality in human male adults, with 50 percent of men aged 50 years and above having histological evidence of the benign tumor. The study was set out to undertake phytochemical screening and proximate analysis of the pulp of A. muricata fruit - soursop; to determine the acute toxicity of the fruit pulp extract and its effect on male albino Wistar rats with concurrent induction of experimental benign prostate hyperplasia (BPH). Eighteen rats (average weight of 100g) were used for the lethality studies and were orally administered graded doses of aqueous extracts of the fruit pulp up to 5000 mg/kg body weight. Twenty five rats weighing 150-200g were divided into five groups of five rats each for the tumor studies. The groups included four controls – Hormone control, HC, which took Testosterone, T; and Estradiol, E2 – only, in olive oil as vehicle; Vehicle control, VC; Soursop control, SC, which received the extract only; VS, Vehicle and Soursop – and the Test group, TG (500mg/kg b.w.). All rats were dosed orally. Tumor was induced with exogenous Testosterone propionate: Estradiol valerate at 300µg: 80µg/kg b.w. (respectively) in olive oil, administered subcutaneously in the inguinal region of the rats on alternate days for 21 days. Administration of the fruit pulp at graded doses up to 5000mg/kg resulted in no lethality even after 72 hours. Results from tumor studies revealed that the administration of the fruit extracts significantly (p < 0.05) reduced the relative prostate weight of the TG compared with the HC, with values of 006±0.001 and 0.010±0.003 respectively. Treatment with vehicle, soursop and vehicle with soursop caused no significant (p>0.05) change in prostate size, with their respective relative prostate weights being 0.002±0.001, 0.004±0.002 and 0.002±0.001 compared with TG. Also, treatment with A. muricata fruit extract significantly decreased (p < 0.05) serum prostate specific antigen, PSA, in TG compared with HC, with values 0.055±0.017 and 0.194±0.068 ng/ml respectively. Furthermore, A. muricata administration displayed Testosterone boosting, Estradiol lowering and consequently testosterone-estradiol ratio increasing potential at the end of the 21 days. The preventive property of soursop against experimental BPH was corroborated by histological evidence in this study. The study concludes that A. muricata fruit holds a great potential for benign prostate tumor prevention and, possibly, management.

Keywords: annona muricata, benign prostate tumor, hormone, preventive potential, soursop

Procedia PDF Downloads 281

Authors: Po-Ching Chou, Wen-Chen Liang, I. Chen Chen, Jong-Hau Hsu, Yuh-Jyh Jong

Abstract:

Background：Cardiopulmonary complications seem to cause high morbidity and mortality in patients with neuromuscular diseases (NMD) but so far there is no domestic data reported in Taiwan. We, therefore attempted to analyze the factors to cause the death in NMD patients from our cohort. Methods：From 1998 to 2013, we retrospectively collected the information of the NMD patients treated and followed up in Kaohsiung Medical University Hospital. Forty-two patients with NMD who expired during these fifteen years were enrolled. The medical records of these patients were reviewed and the causes of death and the associated affecting factors were analyzed. Results：Eighteen patients with NMD (mean age=13.3, SD=12.4) with complete medical record and detailed information were finally included in this study, including spinal muscular atrophy (SMA) (n=9, 7/9: type 1), Duchenne muscular dystrophy (n=6), congenital muscular dystrophy (n=1), carnitine acyl-carnitine translocase (CACT) deficiency (n=1) and spinal muscular atrophy with respiratory distress (SMARD)(n=1). The place of death was in ICU (n=11, 61%), emergency room (n=3, 16.6%) or home (n=4, 22.2%). For SMA type 1 patients, most of them (71.4%, 5/7) died in emergency room or home and the other two expired during an ICU admission. The causes of death included acute respiratory failure due to pneumonia (n=13, 72.2 %), ventilator failure or dislocation (n=2, 11.1%), suffocation/choking (n=2, 11.1%), and heart failure with hypertrophic cardiomyopathy (n=1, 5.55%). Among the 15 patients died of respiratory failure or choking, 73.3% of the patients (n=11) received no ventilator care at home. 80% of the patients (n=12) received no cough assist at home. The patient died of cardiomyopathy received no medications for heart failure until the last admission. Conclusion: Respiratory failure and choking are the leading causes of death in NMD patients. Appropriate respiratory support and airway clearance play the critical role to reduce the mortality.

Keywords: neuromuscular disease, cause of death, tertiary care hospital, medical sciences

Procedia PDF Downloads 503

Authors: Boularas El-Alia, Arbi Raja, Bachir Bouiadjra Sara, Rezk-Kallah Haciba, Rezkkallah Baghdad

Abstract:

Objectives : To determine the handling practices of cytotoxic drugs and to describe clinical manifestations expressed by hospital personnel of Sidi Bel Abbes during the year 2014. Methods: Sectional descriptive study conducted in 3 center university hospital units (Hematology, Oncology and Urology) and Gynecology of EHS Sidi Bel Abbes. A questionnaire was administered to hospital workers regulary exposed to cytotoxic drugs. A work-place visit was performed to have an overview about working conditions. The Cytotoxic Contact Index (CCI) was calculated for each nurse on a period of 15 working days. Treatment of the results was done using SPSS software. Results: The survey reveals that 22 men and 58 women are exposed to cytotoxic drugs for an average of 7 years. Many symptoms such as ocular irritation (38,75%), throat irritation (56,25%), headache (68,75%), dizziness (43,75%), nausea (37,5%), metallic taste (30%), were reported with high frequency. Are noted in the offspring, 3 congenital anomalies,2 diaphragmatic hernia and a cleft palate. The Cytotoxic Contact Index (CCI) was higher than 3 among Oncology nurses and higher than 1 for most of the nurses of Hematology and Gynecology service. The wearing of personal protective clothing was not respected by all workers: (22/23) wear gloves and (20/23) wear a mask,(5/23) wear a cap, (2/23) wear glasses. Only 3 nurses have benefited from continuous training on handling cytotoxic drugs. Conclusion: This study shows a high occupational exposure risk to cytotoxic drugs among persons handling these drugs and the necessity to apply rigorously all measures related to personal protection awareness and training of personnel to minimize these exposure.

Keywords: cytotoxic drugs, handling, clinical manifestations, hospital staff

Procedia PDF Downloads 400

Authors: Silpita Paul, Susanta Sadhukhan, Biswanath Maity, Madhusudan Das

Abstract:

Neural tube defects (NTDs) are one of the most common forms of birth defect and affect ~300,000 new born worldwide each year. The prevalence is higher in Northern India (11 per 1000 birth) compare to southern India (5 per 1000 birth). NTDs are one of the common birth defects related with low blood folate and Hcy concentration. Though the mechanism is still unknown, but it is now established that, NTDs in human are polygenic in nature and follow the heterogeneous trait. In spite of its heterogeneity, polymorphism in few genes affects significantly the trait of NTDs. Polymorphisms in the genes FOLH1 and MTHFR plays important role in NTDs. In this study, the polymorphisms of these genes were screened by bi-directional sequencing from 30 mothers with NTD babies as case. The result revealed that 26.67% patients had bi-allelic FOLH1 polymorphism. The polymorphism has been identified as p.Y60H and frequent to cause NTDs. The study of MTHFR gene showed 2 different SNPs rs1801131 (at exon 4) and rs1801131 (at exon 7). The study showed 6.67% patients of both mono- and bi-allelic MTHFR-rs1801131 polymorphism and 6.67% patients of bi-allelic MTHFR-rs1801131 polymorphism. These polymorphisms has been responsible for p.A222V and p.E429A change respectively and frequently involved in NTD formation. Those polymorphisms affect mainly the absorption of dietary folate from intestine and the formation of 5-methylenetetrahydrofolate (5 MTHF) from 5,10-methylenetetrahydrofolate (5,10- MTHF), which is the functional folate form in our system. Though the study is not complete yet, but these polymorphisms play crucial roles in the formation of NTDs in other world population. Based on the result till date, it can be concluded that they also play significant role in our population too as in control samples we have not found any changes.

Keywords: neural tube defects, polymorphism, FOLH1, MTHFR

Procedia PDF Downloads 280

Authors: Marta Kozuń, Krystian Toczewski, Sylwester Gerus, Justyna Wolicka, Kamila Boberek, Jarosław Filipiak, Dariusz Patkowski

Abstract:

Long gap esophageal atresia is a congenital defect and is a challenge for pediatric surgeons all over the world. There are different surgical techniques in use to treat atresia. One of them is esophageal elongation but the optimal suture placement technique to achieve maximum elongation with low-risk complications is still unknown. The aim of the study was to characterize the process of esophageal elongation from the biomechanical point of view. Esophagi of white Pekin Duck was used as a model based on the size of this animal which is similar to a newborn (2.5-4kg). The specimens were divided into two groups: the control group (CG) and the group with sutures (SG). The esophagi of the control group were mounted in the grips of the MTS Tytron 250 testing machine and tensile test until rupture was performed. The loading speed during the test was 10mm/min. Then the SG group was tested. Each esophagus was cut into two equal parts and that were fused together using surgical sutures. The distance between both esophagus parts was 20mm. Ten both ends were mounted on the same testing machine and the tensile test with the same parameters was conducted. For all specimens, force and elongation were recorded. The biomechanical properties, i.e., the maximal force and maximal elongation, were determined on the basis of force-elongation curves. The maximal elongation was determined at the point of maximal force. The force achieved with the suture group was 10.1N±1.9N and 50.3N±11.6N for the control group. The highest elongation was also obtained for the control group: 18mm±3mm vs. 13.5mm ±2.4mm for the suture group. The presented study expands the knowledge of elongation of esophagi. It is worth emphasizing that the duck esophagus differs from the esophagus of a newborn, i.e., its wall lacks striated muscle cells. This is why the parts of animal esophagi used in the research are may characterized by different biomechanical properties in comparison with newborn tissue.

Keywords: long gap atresia treatment, esophageal elongation, biomechanical properties, soft tissue

Procedia PDF Downloads 69

Authors: Sankalpa Satapathy

Abstract:

The stigma attached to disability is very high in India and given its patriarchal society women and their interests have always been pushed to the background. The identity of disabled women is compromised under the social construction of disability which lowers their self-esteem and hampers their development. Disability policies in India have focused on provision of educational and employment opportunities to make them economically productive members of the society. This preoccupation with the materialistic spheres of lives of the disabled has led to a neglect of the private sphere concerning intimate social relationships and motherhood. This paper seeks to bring to forefront the private lives of disabled women. Semi-structured in-depth interviews were conducted with twenty seven women with physical disability (congenital/acquired) from Odisha, a state in India. Sampling was done in a manner to include women from various strata of the society to allow meaningful analysis. In a society where paramount importance is attached to wifehood and motherhood, the chances of marriage for disabled women were very low compared to disabled men. Majority believed that marriage and having a family was meant for non disabled women and had decided against getting married. Socialization process was found to be a major factor in determining the ideas and aspirations of disabled women. They were clearly sidelined by their families on the issue of marriage. Education and employment levels did not seem to increase the appeal of disabled women to prospective suitors. But not all the women interviewed were closed to the idea of intimate relationships and marriage. Disabled women who were married or hoped to get married in future were found to have a better body image and greater self motivation. It is interesting to understand the means by which these women, who have been brought up to internalize ideas of their unattractiveness, undesirability, asexuality and inability to care, established identities which have so long been denied to them. With these stories of personal triumphs an attempt is made for reclamation of private spheres which have been abandoned by disability policies and make them gender sensitive.

Keywords: disability, gender, marriage, relationships

Procedia PDF Downloads 320

Authors: Eda Jazexhiu-Postoli, Gladiola Hoxha, Ada Simeoni, Sonila Biba

Abstract:

Background Neonatal hypotonia represents a commonly encountered issue in the Neonatal Intensive Care Unit and newborn nursery. The differential diagnosis is broad, encompassing chromosome abnormalities, primary muscular dystrophies, neuropathies and inborn errors of metabolism. Aim of study Our study describes some of the main clinical features of hypotonia in newborns and presents clinical cases of neonatal hypotonia we treated in our Neonatal unit in the last 3 years. Case reports Four neonates born in our hospital presented with hypotonia after birth, one preterm newborn 35-36 weeks of gestational age and three other term newborns (38-39 weeks of gestational age). Prenatal data revealed a decrease in fetal movements in both cases. Intrapartum meconium-stained amniotic fluid was found in 75% of our hypotonic newborns. Clinical features included inability to establish effective respiratory movements and need for resuscitation in the delivery room, respiratory distress syndrome, feeding difficulties and need for oro-gastric tube feeding, dysmorphic features, hoarse voice and moderate to severe muscular hypotonia. The genetic workup revealed the diagnosis of Autosomal Recessive Congenital Myasthenic Syndrome 1-B, Sotos Syndrome, Spinal Muscular Atrophy Type 1 and Transient Hypotonia of the Newborn. Two out of four hypotonic neonates were transferred to the Pediatric Intensive Care Unit and died at the age of three to five months old. Conclusion Hypotonia is a concerning finding in neonatal care and it is suggested by decreased intrauterine fetal movements, failure to establish first breaths, respiratory distress and feeding difficulties in the neonate. Prognosis is determined by its etiology and time of diagnosis and intervention.

Keywords: hypotonic neonate, respiratory distress, feeding difficulties, fetal movements

Procedia PDF Downloads 74