Search results for: congenital cleft lips and palate

Authors: Rafael Ricieri, Rogerio Barros, Francisco Clovis

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Objective– The Objective of this is study is to report a rare case of dermoid cyst, with a sublingual location and cutaneous fistula in a 4 year-old child.Methods: This study is a case report. The main study instrument was the medical record and the radiological and intraoperative image bank. Results: Infants with congenital cervical lesions eventually need tomography for diagnostic elucidation, and health services should be structured to perform sedation and thin tomographic sections in order to reduce morbidity.

Keywords: congenital, sublingual dermoid cyst, fistula, pediatric surgery, head and kneck surgery

Procedia PDF Downloads 66

Authors: Hady Atef Labib

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Pediatric cardiac rehabilitation has the potential to benefit many children with congenital heart defects (CHD). Instead of excellent surgical results most of children usually present with a depression of physical condition so early rehabilitation program is recommended to avoid that decline in physical tolerance and prevent any post surgical complications. Unfortunately, the limited experience with and availability of these programs has caused the benefits of cardiac rehabilitation to be unavailable to most children with CHD. Therefore, it is recommended to study that field in more detail and apply it on wider scale.

Keywords: pediatric cardiac rehabilitation, congenital heart disease, quality of life, pediatric

Procedia PDF Downloads 350

Authors: Belhadi Kamilia, Bendaoud Fadhila, Zidani Abla

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Birth defects are morphological abnormalities and functionally represent the main causes of morbidity and neonatal mortality. Was to analyze a number of maternal and newborn traits, assess the main causes and risk factors of her abnormalities and describe the clinical aspects and different types of birth defects. At maternity of Batna, our rate of congenital malformations is 19% of hospitalized new-borns Mono malformations are the most common, mainly 28% neurological malformations predominated by Spina Bifida and hydrocephalus, Poly malformations and accounted for only 15% of our study. 39,61% of newborns are premature. We found a male predominance, the sex ratio of 1.33 males to one girl, most by mothers over 35; the analysis of the pathological history has shown that the diseases encountered in mothers are pregnant HTA and diabetes. These are the most common diseases, with a percentage of ( 19% and 21%) Taking medication exists with a percentage of 28%. Concerning the diagnosis, the realization that antenatal ultrasound is carried out in 12% of cases, and the mortality rate is very high; most cases die at 45%. Congenital malformations remain a problem in terms of treatment and prognosis; this will allow investigators to investigate other factors, better understand the causes of congenital malformations and develop effective prevention and treatment strategies.

Keywords: malformation, congenital, newborn, risk factors, Wilaya of Batna, Algeria.

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Authors: Maryam Borjali

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Introduction. Mortality due to noncommunicable diseases has increased in the world today with the advent of demographic shifts, growing age, and lifestyle patterns in the world, which have been affected by economic and social crises. Congenital heart defects are one of the forms of diseases that have raised infant mortality worldwide. e objective of present study was to identify nonmedical determinants related to this abnormality from the mother’s perspectives. Methods. is research was a qualitative study and the data collection method was a semistructured interview with mothers who had children with congenital heart diseases referring to the Shahid Rajaei Heart Hospital in Tehran, Iran. A thematic analysis approach was employed to analyze transcribed documents assisted by MAXQDA Plus version 12. Results. Four general themes and ten subthemes including social contexts (social harms, social interactions, and social necessities), psychological contexts (mood disorders and mental well-being), cultural contexts (unhealthy lifestyle, family culture, and poor parental health behaviors), and environmental contexts (living area and polluted air) were extracted from interviews with mothers of children with congenital heart diseases. Conclusions. Results suggest that factors such as childhood poverty, lack of parental awareness of congenital diseases, lack of proper nutrition and health facilities, education, and lack of medical supervision during pregnancy were most related with the birth of children with congenital heart disease from mothers’ prospective. In this regard, targeted and intersectorial collaborations are proposed to address nonmedical determinants related to the incidence of congenital heart diseases.

Keywords: congenital_cou, cultural, social, platform

Procedia PDF Downloads 78

Authors: S. P. Singh, Shweta Gupta, Kshama Dwivedi, Shivangi Singh

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Aim: To compare the postoperative pupil cosmesis, mydriasis, and anterior chamber depth (ACD) in traumatic and congenital iris defects after Single-Pass Four-Throw pupilloplasty (SFTP). Method: SFTP was performed along with cataract surgery in 6 patients, each of congenital and traumatic iris defects and pupil size, mydriasis, and ACD was compared after three months. Results: SFTP was successful in repairing congenital and traumatic cases except in 1 traumatic case with a large iris defect. Horizontal pupil diameter decreased while ACD increased in both groups and was comparable between the two groups. The traumatic group showed a significant decrease in pupil diameter while there was an insignificant change in the horizontal pupil diameter in the congenital group. Mydriasis was adequate for fundus examination and was comparable between the two groups. The effect of SFTP on ACD was inconclusive due to the confounding effect of cataract surgery. The incidence of iris atrophy was equal in both groups. Conclusion: SFTP results in anatomical and functional restoration in cases of iris defects with no inadvertent effect on mydriasis.

Keywords: anterior chamber depth, mydriasis, pupil cosmesis, single-pass four-throw pupilloplasty

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Authors: Judith Correa-Gomez, Cristina Garcia-De la Pena, Veronica Avila-Rodriguez, David R. Aguillon-Gutierrez

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Kemp's ridley (Lepidochelys kempii) is the smallest species of sea turtle. It nests on the beaches of the Gulf of Mexico during summer. To date, there is no information about congenital anomalies in this species, which could be an important factor to be considered as a survival threat. The aim of this study was to determine congenital anomalies in dead embryos and hatchlings of Kemp's ridley sea turtle during 2020 nesting season. Fieldwork was conducted at the 'Campamento Tortugero Barra Norte', on the shores of Tuxpan, Veracruz, Mexico. A total of 95 nests were evaluated, from which 223 dead embryos and hatchlings were collected. Anomalies were detected by detailed physical examinations. Photographs of each anomaly were taken. From the 223 dead turtles, 213 (95%) showed a congenital anomaly. A total of 53 types of congenital anomalies were found: 22 types on the head region, 21 on the carapace region, 6 on the flipper region, and 4 regarding the entire body. The most prevalent anomaly in the head region was the presence of prefrontal supernumerary scales (42%, 93 occurrences). On the carapace region, the most common anomaly was the presence of supernumerary gular scales (59%, 131 occurrences). The two most common anomalies on the flipper region were amelia in fore flippers and rear bifurcation of flippers (0.9%, 2 occurrences each). The most common anomaly involving the entire body was hypomelanism (35%, 79 occurrences). These results agree with the recent studies on congenital malformations on sea turtles, being the head and the carapace regions the ones with the highest number of congenital anomalies. It is unknown whether the reported anomalies can be related to the death of these individuals. However, it is necessary to develop embryological studies in this species. To our best knowledge, this is the first worldwide report on Kemp’s ridley sea turtle anomalies.

Keywords: Amelia, hypomelanism, morphology, supernumerary scales

Procedia PDF Downloads 137

Authors: Habib Onsori, Somayeh Akrami, Mohammad Rahmati

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Deafness is the most common sensory disorder with the frequency of 1/1000 in many populations. Mutations in the GJB2 (CX26) gene at the DFNB1 locus on chromosome 13q12 are associated with congenital hearing loss. Approximately 80% of congenital hearing loss cases are recessively inherited and 15% dominantly inherited. Mutations of the GJB2 gene, encoding gap junction protein Connexin 26 (Cx26), are the most common cause of hereditary congenital hearing loss in many countries. This report presents two cases of different mutations from Iranian patients with bilateral hearing loss. DNA studies were performed for the GJB2 gene by PCR and sequencing methods. In one of them, direct sequencing of the gene showed a heterozygous T→C transition at nucleotide 604 resulting in a cysteine to arginine amino acid substitution at codon 202 (C202R) in the fourth extracellular domain (TM4) of the protein. The analyses indicate that the C202R mutation appeared de novo in the proband with a possible dominant effect (GenBank: KF 638275). In the other one, DNA sequencing revealed a compound heterozygous mutation (35delG, 363delC) in the Cx26 gene that is strongly associated with congenital non-syndromic hearing loss (NSHL). So screening the mutations for hearing loss individuals referring to genetics counseling centers before marriage and or pregnancy is recommended.

Keywords: CX26, deafness, GJB2, mutation

Procedia PDF Downloads 464

Authors: Felipe H. Sanders, Bryan A. Edwards, Matthew Fusco, Rod J. Oskouian, R. Shane Tubbs

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Introduction: Sinus pericranii is a rare vascular malformation that connects the intracranial dural sinuses to the extracranial venous drainage system and is caused by either trauma or congenital defects. Although the majority of these vascular structures are due to trauma, some are congenital. Case report: Herein, we report a 5-month-old patient with a very large and fluctuating subcutaneous mass over the occiput and the diagnosis of Crouzon’s syndrome. The child presented with a large midline mass that on imaging, connected to the underlying torcular and was diagnosed as a sinus pericranii. At long-term follow up and without operative intervention, the sinus pericranii resolved. This uncommon relationship is reviewed. Conclusion: Premature closure of posterior fossa sutures as part of Crouzon syndrome can present with large sinus pericranii. Such subcutaneous swellings might resolve spontaneously.

Keywords: congenital, craniosynostosis, pediatric, vascular malformation

Procedia PDF Downloads 182

Authors: Kan Yu, Khui Hung Lee, Eben Afrifa-Yamoah, Jing Guo, Katrina Harrison, Jack Goldblatt, Nicholas Pachter, Jitian Xiao, Guicheng Brad Zhang

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Background and Significance of the Study: Congenital Heart Defects (CHDs) are the most common malformation at birth and one of the leading causes of infant death. Although the exact etiology remains a significant challenge, epigenetic modifications, such as DNA methylation, are thought to contribute to the pathogenesis of congenital heart defects. At present, no existing DNA methylation biomarkers are used for early detection of CHDs. The existing CHD diagnostic techniques are time-consuming and costly and can only be used to diagnose CHDs after an infant was born. The present study employed a machine learning technique to analyse genome-wide methylation data in children with and without CHDs with the aim to find methylation biomarkers for CHDs. Methods: The Illumina Human Methylation EPIC BeadChip was used to screen the genome‐wide DNA methylation profiles of 24 infants diagnosed with congenital heart defects and 24 healthy infants without congenital heart defects. Primary pre-processing was conducted by using RnBeads and limma packages. The methylation levels of top 600 genes with the lowest p-value were selected and further investigated by using a random forest approach. ROC curves were used to analyse the sensitivity and specificity of each biomarker in both training and test sample sets. The functionalities of selected genes with high sensitivity and specificity were then assessed in molecular processes. Major Findings of the Study: Three genes (MIR663, FGF3, and FAM64A) were identified from both training and validating data by random forests with an average sensitivity and specificity of 85% and 95%. GO analyses for the top 600 genes showed that these putative differentially methylated genes were primarily associated with regulation of lipid metabolic process, protein-containing complex localization, and Notch signalling pathway. The present findings highlight that aberrant DNA methylation may play a significant role in the pathogenesis of congenital heart defects.

Keywords: biomarker, congenital heart defects, DNA methylation, random forest

Procedia PDF Downloads 139

Authors: Pooja Ahuja, Tejal Bhutani, M. S. Dahiya

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Cheiloscopy, the study of lip prints, is a tool in forensic investigation technique that deals with identification of individuals based on lips patterns. The objective of this study is to determine predominant lip print pattern found among the Gujarati population, to evaluate whether any sex difference exists and to study the permanence of the pattern over six months duration. The study comprised of 100 healthy individuals (50 males and 50 females), in the age group of 18 to 25 years of Gujarati population of the Gandhinagar region of the Gujarat state, India. By using Suzuki and Tsuchihashi classification, Lip prints were then divided into four quadrants and also classified on the basis of peripheral shape of the lips. Materials used to record the lip prints were dark brown colored lipstick, cellophane tape, and white bond paper. Lipstick was applied uniformly, and lip prints were taken on the glued portion of cellophane tape and then stuck on to a white bond paper. These lip prints were analyzed with magnifying lens and virtually with stereo microscope. On the analysis of the subject population, results showed Branched pattern Type II (29.57 percentage) to be most predominant in the Gujarati population. Branched pattern Type II (35.60 percentage) and long vertical Type I (28.28 percentage) were most prevalent in males and females respectively and large full lips were most predominantly present in both the sexes. The study concludes that lip prints in any form can be an effective tool for identification of an individual in a closed or open group forms.

Keywords: cheiloscopy, lip pattern, predomianant, Gujarati population

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Authors: D. Estrella, A. Silva, R. Zapata, H. Rubio

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A total of 100 primary caregivers (mothers, fathers, grandparents) with at least one child or grandchild with a diagnosis of congenital bilateral profound deafness were assessed in order to evaluate the functionality of families with a deaf member, who was evaluated by specialists in audiology, molecular biology, genetics and psychology. After confirmation of the clinical diagnosis, DNA from the patients and parents were analyzed in search of the 35delG deletion of the GJB2 gene to determine who possessed the mutation. All primary caregivers were provided psychological support, regardless of whether or not they had the mutation, and prior and subsequent, the family APGAR test was applied. All parents, grandparents were informed of the results of the genetic analysis during the psychological intervention. The family APGAR, after psychological and genetic counseling, showed that 14% perceived their families as functional, 62% moderately functional and 24% dysfunctional. This shows the importance of psychological support in family functionality that has a direct impact on the quality of life of these families.

Keywords: deafness, psychological support, family, adaptation to disability

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Authors: A. Uludağ, F. G. Tufekci, N. Ceviz

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Aim: The research has been carried out in order to evaluate caregiver burden, life satisfaction and received social support level of the parents whose children have congenital heart disease; to examine the relationship between the social supports received by them and caregiver burden and life satisfaction. Material and Method: The research which is descriptive and which is searching a relationship has been carried out between the dates June 7, 2012- June 30, 2014, in Erzurum Ataturk University Research and Application Hospital, Department of Pediatrics and Children Cardiology Polyclinic. In the research, it was collaborated with the parents (N = 157) who accepted to participate in, of children who were between the ages of 3 months- 12 years. While gathering the data, a questionnaire, Zarit Caregiver Burden, Life Satisfaction and Social Support Scales have been used. The statistics of the data acquired has been produced by using percentage distribution, mean, and variance and correlation analysis. Ethical principles are followed in the research. Results: In the research, caregiver burden, life satisfaction and social support level received from family (p < 0.05), have been determined higher in the parents whose children have serious congenital heart disease than that of parents whose children have slight disease and social support received from friends has been found lower. It has been determined that there is a strong relation (p < 0.001) through negative direction between both social support levels and caregiver burden of parents; and that there is a strong relation (p < 0.001) through positive direction between both support levels and life satisfaction. Conclusion: That Social Support is in a strong relation with Caregiver Burden through a negative direction and a strong relation with Life Satisfaction through positive direction in parents of all the children who have congenital heart disease requires social support systems to be reinforced. Parents can be led or guided so as to prompt social support systems more.

Keywords: congenital heart disease, child, parents, caregiver burden, life satisfaction, social support

Procedia PDF Downloads 278

Authors: Karunambigai Mevani Govindasamy, Sathishkumar Ayyappan

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In this paper, we formulate the algorithm to find out the dominating function parameters of Intuitionistic Fuzzy Graphs(IFG). The methodology we adopted here is converting any physical problem into an IFG, and that has been transformed into Intuitionistic Fuzzy Matrix. Using Linear Program Solver software (LiPS), we found the defined parameters for the given IFG. We obtained these parameters for a path and cycle IFG. This study can be extended to other varieties of IFG. In particular, we obtain the definition of edge dominating function, minimal edge dominating function, fractional edge domination number (γ_if^') and upper fractional edge domination number (Γ_if^') of an intuitionistic fuzzy graph. Also, we formulated an algorithm which is appropriate to work on LiPS to find fractional edge domination number and upper fractional edge domination number of an IFG.

Keywords: fractional edge domination number, intuitionistic fuzzy cycle, intuitionistic fuzzy graph, intuitionistic fuzzy path

Procedia PDF Downloads 147

Authors: Maria Lopez-Ibarra, Ana Velazquez-Wong, Lucelli Yañez-Gutierrez, Maria Araujo-Solis, Fabio Salamanca-Gomez, Alfonso Mendez-Tenorio, Haydeé Rosas-Vargas

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Congenital heart diseases (CHD) are the most common congenital abnormalities. These conditions can occur as both an element of distinct chromosomal malformation syndromes or as non-syndromic forms. Their etiology is not fully understood. Genetic variants such copy number variants have been associated with CHD. The aim of our study was to analyze these genomic variants in peripheral blood from Mexican children diagnosed with non-syndromic CHD. We included 16 children with atrial and ventricular septal defects and 5 healthy subjects without heart malformations as controls. To exclude the most common heart disease-associated syndrome alteration, we performed a fluorescence in situ hybridization test to identify the 22q11.2, responsible for congenital heart abnormalities associated with Di-George Syndrome. Then, a microarray based comparative genomic hybridization was used to identify global copy number variants. The identification of copy number variants resulted from the comparison and analysis between our results and data from main genetic variation databases. We identified copy number variants gain in three chromosomes regions from pediatric patients, 4q13.2 (31.25%), 9q34.3 (25%) and 20q13.33 (50%), where several genes associated with cellular, biosynthetic, and metabolic processes are located, UGT2B15, UGT2B17, SNAPC4, SDCCAG3, PMPCA, INPP6E, C9orf163, NOTCH1, C20orf166, and SLCO4A1. In addition, after a hierarchical cluster analysis based on the fluorescence intensity ratios from the comparative genomic hybridization, two congenital heart disease groups were generated corresponding to children with atrial or ventricular septal defects. Further analysis with a larger sample size is needed to corroborate these copy number variants as possible biomarkers to differentiate between heart abnormalities. Interestingly, the 20q13.33 gain was present in 50% of children with these CHD which could suggest that alterations in both coding and non-coding elements within this chromosomal region may play an important role in distinct heart conditions.

Keywords: aCGH, bioinformatics, congenital heart diseases, copy number variants, fluorescence in situ hybridization

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Authors: Hamna Choudhary

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Background: This clinical case report follows the orthodontic journey of a teenage girl being treated in the Oxfordshire Community Dental Service. She presents with a rare genetic disorder – Moebius syndrome – characterised by unilateral or bilateral facial (CN VII) and abducens (CN VI) nerve palsy. This report seeks to educate Dental professionals on the impact of Moebius syndrome on Dental treatment, and how to make reasonable adjustments to make orthodontic care accessible to these patients. Methodology: Moebius syndrome is a very rare genetic disorder. Across the Oxfordshire Community Dental Service, only two patients with this condition have been identified who are undergoing orthodontic treatment. One of these patients was selected and observed, while the orthodontist (Heather Nevard) was providing orthodontic treatment with fixed appliances. The patient is undergoing treatment to correct her class II division 2 incisor relationship complicated by buccally excluded, transposed maxillary canines. Conclusions: Specific oral presentations of Moebius syndrome include microstomia, micrognathia, tongue malformation, high or cleft palate, bifid uvula and Dental malocclusion. Orthodontics plays a major role in managing and correcting many of these conditions. This emphasises the importance for Dental professionals to be informed on the condition and highlights the need for Dental input in multidisciplinary teams responsible for the care of these patients. Receiving corrective treatment has a significant impact on an individual’s quality of life. In this case, the patient felt much more confident in herself, and having aligned teeth will allow her to better maintain a healthy dentition throughout life. By understanding and educating oneself on Moebius syndrome, one is able to better cater to patient needs and make orthodontic treatment accessible.

Keywords: dentistry, facial palsy, moebius syndrome, orthodontics

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Authors: Seyed Mazyar Mortazavi, Masod Memari, Hasan Ali Ahmadi, Zhaleh Abed

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Introduction: VACTERL association is a rare disorder with various congenital malformations. The aetiology remains unknown. Combination of at least three congenital anomalies of the following criteria is required for diagnosis: vertebral defects, anal atresia, cardiac anomalies, tracheo-esophageal fistula, renal anomalies, and limb defects. Case presentation: The first case was 1-day old male neonate with multiple congenital anomalies was bore from 28 years old mother. The mother had history of pregnancy with lymphocyte therapy. His anomalies included: defects in thoracic and lumbar vertebral, anal atresia, bilateral hydronephrosis, atrial septal defect, and lower limb abnormality. Other anomalies were cryptorchidism and nasal canal narrowing. The second case was born with 32 weeks gestational age from mother with history of pregnancy with lymphocyte therapy. He had thoracic vertebral defect, cardiac anomalies and renal defect. Conclusion: diagnosis based on clinical finding is VACTERL association. Early diagnosis is very important to investigation and treatment of other coexistence anomalies. VACTERL association in mothers with history of pregnancy with lymphocyte therapy has suggested possibly of relationship between VACTERL association and this method of pregnancy.

Keywords: anal atresia, tracheo-esophageal fistula, atrial septal defect, lymphocyte therapy

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Authors: Titap Yazicioglu

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To examine the results of two different surgery in patients with severe ptosis and poor levator function. The records of 10 bilateral congenital ptosis patients, who underwent Whitnall’s sling surgery on one eyelid and frontalis sling surgery on the other were analyzed retrospectively. All patients had severe congenital ptosis(>4mm) and poor levator function (LF<4mm). Data regarding eyelid position, cosmetic outcomes, and postoperative complications were evaluated. All patients were assessed for a minimum of one year with regard to the amount of correction, residual ptosis and lagophthalmos. The study consisted of 10 patients, with an average age of 9.2±2.4 years. Preoperative diagnosis for all patients was noted as, the average LF was 3.4±0.51mm, vertical lid height was 3.5±0.52 mm and margin reflex distance-1 (MRD-1) was 0.4±0.51mm. The mean vertical lid height was measured as 7.1±0.73 mm in the frontalis sling group and 7.2±0.63 mm in the Whitnall’s sling group at the postoperative 1st month control. However, in patients with Whitnall’s sling, revision was performed with frontalis sling surgery due to failure in vertical lid height in the late postoperative period, and an average of 7.5±0.52 mm was achieved. Satisfactory results were obtained in all patients. Although postoperative lagophthalmitis developed in the frontalis sling group, none of them developed exposure keratitis. Granuloma was observed as sling infection in 2(20%) of the patients. Although Whitnall’s sling technique provides a natural look appearance without interfering with the functional result, we did not find it as successful as frontalis sling surgery in severe ptosis.

Keywords: congenital ptosis, frontalis suspension, Whitnall ligament, complications

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Authors: Bharati Mehta, Manish Parakh, Bharti Bhandari, Sneha Ambwani

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Speech and language delay (SLD) is seen commonly as a co-morbidity in children having severe resistant focal and generalized, syndromic and symptomatic epilepsies. It is however not clear whether epilepsy contributes to or is a mere association in the pathogenesis of SLD. Also, it is acknowledged that Auditory Brainstem Evoked Responses (ABER), besides used for evaluating hearing threshold, also aid in prognostication of neurological disorders and abnormalities in the hearing pathway in the brainstem. There is no circumscribed or surrogate neurophysiologic laboratory marker to adjudge the extent of SLD. The current study was designed to evaluate the abnormalities in Electroencephalography (EEG) and ABER in children with SLD who do not have an overt hearing deficit or autism. 94 children of age group 2-8 years with predominant SLD and without any gross motor developmental delay, head injury, gross hearing disorder, cleft lip/palate and autism were selected. Standard video Electroencephalography using the 10:20 international system and ABER after click stimulus with intensities 110 db until 40 db was performed in all children. EEG was abnormal in 47.9% (n= 45; 36 boys and 9 girls) children. In the children with abnormal EEG, 64.5% (n=29) had an abnormal background, 57.8% (n=27) had presence of generalized interictal epileptiform discharges (IEDs), 20% (n=9) had focal epileptiform discharges exclusively from left side and 33.3% (n=15) had multifocal IEDs occurring both in isolation or associated with generalised abnormalities. In ABER, surprisingly, the peak latencies for waves I, III & V, inter-peak latencies I-III & I-V, III-V and wave amplitude ratio V/I, were found within normal limits in both ears of all the children. Thus in the current study it is certain that presence of generalized IEDs in EEG are seen in higher frequency with SLD and focal IEDs are seen exclusively in left hemisphere in these children. It may be possible that even with generalized EEG abnormalities present in these children, left hemispheric abnormalities as a part of this generalized dysfunction may be responsible for the speech and language dysfunction. The current study also emphasizes that ABER may not be routinely recommended as diagnostic or prognostic tool in children with SLD without frank hearing deficit or autism, thus reducing the burden on electro physiologists, laboratories and saving time and financial resources.

Keywords: ABER, EEG, speech, language delay

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Authors: Suveen Kumar

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Oral cancer (OC) is the sixth most death causing cancer in world which includes tumour of lips, floor of the mouth, tongue, palate, cheeks, sinuses, throat, etc. Conventionally, the techniques used for OC detection are toluidine blue staining, biopsy, liquid-based cytology, visual attachments, etc., however these are limited by their highly invasive nature, low sensitivity, time consumption, sophisticated instrument handling, sample processing and high cost. Therefore, we developed biosensing chips for non-invasive detection of OC via CYFRA-21-1 biomarker. CYFRA-21-1 (molecular weight: 40 kDa) is secreted in saliva of OC patients which is a non-invasive biological fluid with a cut-off value of 3.8 ng mL-1, above which the subjects will be suffering from oral cancer. Therefore, in first work, 3-aminopropyl triethoxy silane (APTES) functionalized zirconia (ZrO2) nanoparticles (APTES/nZrO2) were used to successfully detect CYFRA-21-1 in a linear detection range (LDR) of 2-16 ng mL-1 with sensitivity of 2.2 µA mL ng-1. Successively, APTES/nZrO2-RGO was employed to prevent agglomeration of ZrO2 by providing high surface area reduced graphene oxide (RGO) support and much wider LDR (2-22 ng mL-1) was obtained with remarkable limit of detection (LOD) as 0.12 ng mL-1. Further, APTES/nY2O3/ITO platform was used for oral cancer bioseneor development. The developed biosensor (BSA/anti-CYFRA-21-1/APTES/nY2O3/ITO) have wider LDR (0.01-50 ng mL-1) with remarkable limit of detection (LOD) as 0.01 ng mL-1. To improve the sensitivity of the biosensing platform, nanocomposite of yattria stabilized nanostructured zirconia-reduced graphene oxide (nYZR) based biosensor has been developed. The developed biosensing chip having ability to detect CYFRA-21-1 biomolecules in the range of 0.01-50 ng mL-1, LOD of 7.2 pg mL-1 with sensitivity of 200 µA mL ng-1. Further, the applicability of the fabricated biosensing chips were also checked through real sample (saliva) analysis of OC patients and the obtained results showed good correlation with the standard protein detection enzyme linked immunosorbent assay (ELISA) technique.

Keywords: non-invasive, oral cancer, nanomaterials, biosensor, biochip

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Authors: Rim Frikha, Nouha Bouayed Abdelmoula, Afifa Sellami, Salima Daoud, Tarek Rebai

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Klippel-Feil Syndrome (KFS) is characterized by congenital vertebral fusion of the cervical spine resulting from faulty segmentation along the embryo's developing axis. A wide spectrum of associated anomalies may be present. This heterogeneity has complicated elucidation of the genetic etiology and management of the syndrome. We report a case of an isolated Klippel-Feil Syndrome with C5-C6 fusion on the cervical spine. It‘s the rarest form of congenital fused cervical vertebrae which is predisposed to the risk of spinal cord injury and neurologic problems. The aim of this paper was to review clinical heterogeneity; radiographic abnormalities and genetic etiology in Klippel-Feil Syndrome. We insist in comprehensive evaluation and delineation of diagnostic and prognostic classes.

Keywords: Klippel–Feil anomaly, genetic, clinical heterogeneity, radiographic abnormalities

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Authors: Swapna N., Deepthy Ann Joy

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One of the major causes of communication disorders in pediatric population is Motor speech disorders. These disorders which affect the motor aspects of speech articulators can have an adverse effect on the communication abilities of children in their developmental period. The motor aspects are dependent on the sensory abilities of children with motor speech disorders. Hence, oral sensorimotor evaluation is an important component in the assessment of children with motor speech disorders. To our knowledge, the importance of oral motor examination has been well established, yet the sensory assessment of the oral structures has received less focus. One of the most common motor speech disorders seen in children is developmental dysarthria. The present study aimed to assess the orosensory aspects in children with developmental dysarthria (CDD). The control group consisted of 240 children in the age range of four and eight years which was divided into four subgroups (4-4.11, 5-5.11, 6-6.11 and 7-7.11 years). The experimental group consisted of 15 children who were diagnosed with developmental dysarthria secondary to cerebral palsy who belonged in the age range of four and eight years. The oro-sensory aspects such as response to touch, temperature, taste, texture, and orofacial sensitivity were evaluated and profiled. For this purpose, the authors used the ‘Oral Sensorimotor Evaluation Protocol- Children’ which was developed by the authors. The oro-sensory section of the protocol was administered and the clinical profile of oro-sensory abilities of typically developing children and CDD was obtained for each of the sensory abilities. The oro-sensory abilities of speech articulators such as lips, tongue, palate, jaw, and cheeks were assessed in detail and scored. The results indicated that experimental group had poorer scores on oro-sensory aspects such as light static touch, kinetic touch, deep pressure, vibration and double simultaneous touch. However, it was also found that the experimental group performed similar to control group on few aspects like temperature, taste, texture and orofacial sensitivity. Apart from the oro-motor abilities which has received utmost interest, the variation in the oro-sensory abilities of experimental and control group is highlighted and discussed in the present study. This emphasizes the need for assessing the oro-sensory abilities in children with developmental dysarthria in addition to oro-motor abilities.

Keywords: cerebral palsy, developmental dysarthria, orosensory assessment, touch

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Authors: Nigar Sultanova

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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

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Authors: Marjan Javanmard

Abstract:

The rheological properties of dairy products critically depend on the underlying organisation of proteins at multiple length scales. When heated and acidified, milk proteins form particle gel that is viscoelastic, solvent rich, ‘soft’ material. In this work recent developments on the rheology of soft particles suspensions were used to interpret and potentially define the properties of dairy gel structures. It is discovered that at volume fractions below random close packing (RCP), the Maron-Pierce-Quemada (MPQ) model accurately predicts the viscosity of the dairy gel suspensions without fitting parameters; the MPQ model has been shown previously to provide reasonable predictions of the viscosity of hard sphere suspensions from the volume fraction, solvent viscosity and RCP. This surprising finding demonstrates that up to RCP, the dairy gel system behaves as a hard sphere suspension and that the structural aggregates behave as discrete particulates akin to what is observed for microgel suspensions. At effective phase volumes well above RCP, the system is a soft solid. In this region, it is discovered that the storage modulus of the sheared AMG scales with the storage modulus of the set gel. The storage modulus in this regime is reasonably well described as a function of effective phase volume by the Evans and Lips model. Findings of this work has potential to aid in rational design and control of dairy food structure-properties.

Keywords: dairy suspensions, rheology-structure, Maron-Pierce-Quemada Model, Evans and Lips Model

Procedia PDF Downloads 196

Authors: Uliana N. Tumanova, Viacheslav M. Lyapin, Vladimir G. Bychenko, Alexandr I. Shchegolev, Gennady T. Sukhikh

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It is well known that the gas formed as a result of postmortem decomposition of tissues can be detected already 24-48 hours after death. In addition, the conditions of keeping and storage of the corpse (temperature and humidity of the environment) significantly determine the rate of occurrence and development of posthumous changes. The presence of sepsis is accompanied by faster postmortem decomposition and decay of the organs and tissues of the body. The presence of gas in the vessels and cavities can be revealed fully at postmortem CT. Radiologists must certainly report on the detection of intraorganic or intravascular gas, wich was detected at postmortem CT, to forensic experts or pathologists before the autopsy. This gas can not be detected during autopsy, but it can be very important for establishing a diagnosis. To explore the possibility of postmortem CT for the evaluation of gas accumulations in the newborns' vessels, who died from congenital sepsis. Researched of 44 newborns bodies (25 male and 19 female sex, at the age from 6 hours to 27 days) after 6 - 12 hours of death. The bodies were stored in the refrigerator at a temperature of +4°C in the supine position. Grouped 12 bodies of newborns that died from congenital sepsis. The control group consisted of 32 bodies of newborns that died without signs of sepsis. Postmortem CT examination was performed at the GEMINI TF TOF16 device, before the autopsy. The localizations of gas accumulations in the vessels were determined on the CT tomograms. The sepsis diagnosis was on the basis of clinical and laboratory data and autopsy results. Gases in the vessels were detected in 33.3% of cases in the group with sepsis, and in the control group - in 34.4%. A group with sepsis most often the gas localized in the heart and liver vessels - 50% each, of observations number with the detected gas in the vessels. In the heart cavities, aorta and mesenteric vessels - 25% each. In control most often gas was detected in the liver (63.6%) and abdominal cavity (54.5%) vessels. In 45.5% the gas localized in the cavities, and in 36.4% in the vessels of the heart. In the cerebral vessels and in the aorta gas was detected in 27.3% and 9.1%, respectively. Postmortem CT has high diagnostic capabilities to detect free gas in vessels. Postmortem changes in newborns that died from sepsis do not affect intravascular gas production within 6-12 hours. Radiation methods should be used as a supplement to the autopsy, including as a kind of ‘guide’, with the indication to the forensic medical expert of certain changes identified during CT studies, for better definition of pathological processes during the autopsy. Postmortem CT can be recommend as a first stage of autopsy.

Keywords: congenital sepsis, gas, newborn, postmortem CT

Procedia PDF Downloads 127

Authors: Michael Vieth, Aric Schadler, Hubert Ballard, J. A. Bauer, Pratibha Thakkar

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Introduction: Congenital diaphragmatic hernia (CDH) is a condition characterized by the herniation of abdominal contents into the thoracic cavity requiring postnatal surgical repair. Previous literature suggests improved CDH outcomes at high-volume regional referral centers compared to low-volume centers. The purpose of this study was to examine CDH outcomes at Kentucky Children’s Hospital (KCH), a low-volume center, compared to the Congenital Diaphragmatic Hernia Study Group (CDHSG). Methods: A retrospective chart review was performed at KCH from 2007-2019 for neonates with CDH, and then subdivided into two cohorts: those requiring ECMO therapy and those not requiring ECMO therapy. Basic demographic data and measures of mortality and morbidity including ventilator days and length of stay were compared to the CDHSG. Measures of morbidity for the ECMO cohort including duration of ECMO, clinical bleeding, intracranial hemorrhage, sepsis, need for continuous renal replacement therapy (CRRT), need for sildenafil at discharge, timing of surgical repair, and total ventilator days were collected. Statistical analysis was performed using IBM SPSS Statistics version 28. One-sample t-tests and one-sample Wilcoxon Signed Rank test were utilized as appropriate.Results: There were a total of 27 neonatal patients with CDH at KCH from 2007-2019; 9 of the 27 required ECMO therapy. The birth weight and gestational age were similar between KCH and the CDHSG (2.99 kg vs 2.92 kg, p =0.655; 37.0 weeks vs 37.4 weeks, p =0.51). About half of the patients were inborn in both cohorts (52% vs 56%, p =0.676). KCH cohort had significantly more Caucasian patients (96% vs 55%, p=<0.001). Unadjusted mortality was similar in both groups (KCH 70% vs CDHSG 72%, p =0.857). Using ECMO utilization (KCH 78% vs CDHSG 52%, p =0.118) and need for surgical repair (KCH 95% vs CDHSG 85%, p =0.060) as proxy for severity, both groups’ mortality were comparable. No significant difference was noted for pulmonary outcomes such as average ventilator days (KCH 43.2 vs. CDHSG 17.3, p =0.078) and home oxygen dependency (KCH 44% vs. CDHSG 24%, p =0.108). Average length of hospital stay for patients treated at KCH was similar to CDHSG (64.4 vs 49.2, p=1.000). Conclusion: Our study demonstrates that outcome in CDH patients is independent of center’s case volume status. Management of CDH with a standardized approach in a low-volume center can yield similar outcomes. This data supports the treatment of patients with CDH at low-volume centers as opposed to transferring to higher-volume centers.

Keywords: ECMO, case volume, congenital diaphragmatic hernia, congenital diaphragmatic hernia study group, neonate

Procedia PDF Downloads 69

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

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Orphaned is a risk factor for mortality in newborns since it is a condition with total or partial absence of maternal care that is essential for neonatal survival, including nursing (nutrition, the transference of passive immunity and hydration), warmth, urination, and defecation stimuli, and protection. The most common causes of mortality in orphans are related to lack of assistance, handling mistakes and infections. This study aims to describe the orphans rates in neonatal puppies, the main causes, and the mortality rates. The study included 735 neonates admitted to the Sao Paulo State University (UNESP) Veterinary Hospital, Botucatu, Sao Paulo, Brazil, between January 2018 and November 2019. The orphans rate was 43.4% (319/735) of all neonates included, and the main causes for orphaned were related to maternal agalactia/hypogalactia (23.5%, 75/319); numerous litter (15.7%, 50/319), toxic milk syndrome due to maternal mastitis (14.4%, 46/319), absence of suction/weak neonate (12.2%, 39/319), maternal disease (9.4%, 30/319), cleft palate/lip (6.3%, 20/319), maternal death (5.9%, 19/319), prematurity (5.3%, 17/319), rejection/failure in maternal instinct (3.8%, 12/319) and abandonment by the owner/separation of mother and neonate (3.5%, 11/319). The main consequences of orphaned observed in the admitted neonates were hypoglycemia, hypothermia, dehydration, aspiration pneumonia, wasting syndrome, failure in the transference of passive immunity, infections and sepsis, which happened due to failure of identifying the problem early, lack of adequate assistance, negligence and handling mistakes by the owner. The total neonatal mortality rate was 8% (59/735) and the neonatal mortality rate among orphans was 18.5% (59/319). The orphaned and mortality rates were considered high, but even higher rates may be observed in locations without adequate neonatal assistance and owner orientation. The survival of these patients is related to constant monitoring of the litter, early diagnosis and assistance, and the implementation of effective handling for orphans. Understanding the correct handling for neonates and instructing the owners regarding proper handling are essential to minimize the consequences of orphaned and the mortality rates.

Keywords: orphans, neonatal care, puppies, newborn dogs

Procedia PDF Downloads 230

Authors: F. Kovács, K. Kádár, G. Hosszú, Á. T. Balogh, T. Zsedrovits, N. Kersner, A. Nagy, Gy. Jeney

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The paper presents a novel screening method to indicate congenital heart diseases (CHD), which otherwise could remain undetected because of their low level. Therefore, not belonging to the high-risk population, the pregnancies are not subject to the regular fetal monitoring with ultrasound echocardiography. Based on the fact that CHD is a morphological defect of the heart causing turbulent blood flow, the turbulence appears as a murmur, which can be detected by fetal phonocardiography (fPCG). The proposed method applies measurements on the maternal abdomen and from the recorded sound signal a sophisticated processing determines the fetal heart murmur. The paper describes the problems and the additional advantages of the fPCG method including the possibility of measurements at home and its combination with the prescribed regular cardiotocographic (CTG) monitoring. The proposed screening process implemented on a telemedicine system provides an enhanced safety against hidden cardiac diseases.

Keywords: cardiac murmurs, fetal phonocardiography, screening of CHDs, telemedicine system

Procedia PDF Downloads 315

Authors: Devatha Kalyan Kumar, R. Poovarasan

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In this paper, we have taken certain important factors and health parameters of diabetes patients especially among children by birth (pediatric congenital) where using the above three metrics methods we are going to assess the importance of each attributes in the dataset and thereby determining the most highly responsible and co-related attribute causing diabetics among young patients. We use cost optimization, control chart and Spearmen methodologies for the real-time application of finding the data efficiency in this diabetes dataset. The Spearmen methodology is the correlation methodologies used in software development process to identify the complexity between the various modules of the software. Identifying the complexity is important because if the complexity is higher, then there is a higher chance of occurrence of the risk in the software. With the use of control; chart mean, variance and standard deviation of data are calculated. With the use of Cost optimization model, we find to optimize the variables. Hence we choose the Spearmen, control chart and cost optimization methods to assess the data efficiency in diabetes datasets.

Keywords: correlation, congenital diabetics, linear relationship, monotonic function, ranking samples, pediatric

Procedia PDF Downloads 240

Authors: Makhdoom Saad Wasim Ghouri, Muneeba Butt, Mohammad Ashraf Tahir, Rashid Bhatti, Akbar Ali, Abdul Rehman, Abdul Basit, Muzzamel Rehman, Shahbaz Aslam, Farakh Mansoor, Ahmad Fayyaz, Hadia Siddiqui

Abstract:

Lip print analysis (Cheiloscopy) is the new emerging technique that might be the guardian angel in establishing the personal identity. Cheiloscopy is basically the study of elevations and depressions present on the external surface of the lips. In our study, 600 lip prints samples were taken (300 males and 300 females). Lip prints of each individual were divided into four quadrants and the upper middle portion. For general classification, middle part of the lower lip almost 10 mm wide would be taken into consideration. After analysis of lip-prints, our results show that lip prints are the unique and permanent character of every individual. No two lip print was matched with each other even of the identical twins. Our study reveals that there is equal distribution of lip print patterns among all the four quadrants of lips and the upper middle portion; these distributions were statistically analyzed by applying chi-square test which shows the significant results. In general classification, 5 lip print types/patterns were studied, Type 1 (Vertical lines), Type 2 (Branched pattern), Type 3 (Intersected pattern), Type 4 (Reticular pattern) and Type 5 (Undetermined). Type 1 and Type 2 were found to be the most frequent patterns in female population, while Type 3 and Type 4 most commonly found in male population. These results were also analyzed by applying Chi-square test, and the results show significance statistically. Thus, establishing sex determination on the basis of lip print types among the gender. Type 5 was the least common pattern among genders.

Keywords: cheiloscopy, distribution, quadrants, sex determination

Procedia PDF Downloads 264

Authors: Vallejo Michael, Acuña Edgar, Roa Juan David, Peñuela Rosa, Parra Alejandra, Casallas Daniela, Rodriguez Sheyla

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Congenital Zika Virus Syndrome is an entity composed by a variety of birth defects presented in newborns that have been exposed to the Zika Virus during pregnancy. The syndrome characteristic features are severe microcephaly, cerebral tissue abnormalities, ophthalmological abnormalities such as uveitis and chorioretinitis, arthrogryposis, clubfoot deformity and muscular tone abnormalities. The confirmatory test is the Reverse transcription polymerase chain reaction (RT-PCR) associated to the physical findings. Here we present the case of a newborn with microcephaly whose mother presented a confirmed Zika Virus infection during the third trimester of pregnancy, despite of the evident findings and the history of Zika infection the RT-PCR in amniotic and cerebrospinal fluid of the newborn was negative. RT-PCR has demonstrated a low sensibility in samples with low viral loads, reason why, we propose a clinical diagnosis in patients with clinical history of Zika Virus infection during pregnancy accompanied by evident clinical manifestations of the child.

Keywords: congenital, Zika virus, microcephaly, reverse transcriptase polymerase chain reaction

Procedia PDF Downloads 183