Commenced in January 2007
Frequency: Monthly
Edition: International
Paper Count: 1067

Search results for: congenital disorders

1067 Effect of Low Level Laser on Healing of Congenital Septal Defects on Dogs

Authors: Hady Atef, Zinab Helmy, Heba Abdeen, Mostafa Fadel

Abstract:

Background and purpose: After the success of the first trials of this experiment which were done on rabbits, a new study were conducted on dogs to ensure the past results; in a step forward to use low-level LASER therapy in the treatment of congenital septal defects in infants. The aim of this study was to investigate the effect of low-level LASER irradiation on congenital septal defects in dogs. Subjects and Methodology: six male dogs who have congenital septal defects in their hearts -with age ranged 6-10 months- enrolled in this study for one and half months. They were assigned into two groups: Group (A): The study group consisted of 3 canine hearts who received routine animal care associated with LASER irradiation. Group (B): The control group consisted of 3 canine hearts who received only routine animal care. Sizes of the septal defects were measured for both groups at the beginning and after the end of the study. Results: There was a significant decrease in the size of the diameter of the congenital septal defect with the study group (percentage of improvement was 42.19%) when compared with control group. Conclusion: It was concluded that low-level LASER therapy can be considered as a promising therapy for congenital heart defects in animals and to be examined on children with similar congenital lesions after then.

Keywords: laser, congenital septal defects, dogs, infants

Procedia PDF Downloads 191
1066 The Existence of a Sciatic Artery in Congenital Lower Limb Deformities

Authors: Waseem Al Talalwah, Shorok Al Dorazi, Roger Soames

Abstract:

Persistent sciatic artery is a rare anatomical vascular variation resulting from a lack of regression of the embryonic dorsal axial artery. The axial artery is the main artery supplying the lower limb during development in the first trimester. The current research includes 206 sciatic artery cases in 171 patients between 1864 and 2012. It aims to identify the risk factor of sciatic artery aneurysm in congenital limb anomalies. Sciatic artery aneurysm was diagnosed incidentally in amniotic band syndrome (ABS) existing with no congenital anomaly in 0.7% or with double knee in 0.7%, with the tibia in 0.7% and with hemihypertrophy or soft tissue hypertrophy in 1.4%. Therefore, the current study indicates a relationship the same gene responsible for the congenital limb deformities may be responsible for non-regression of the sciatic artery. Furthermore, pediatricians should refer cases of congenital limb anomalies for vascular evaluation prior to corrective surgical intervention.

Keywords: amniotic band syndrome, congenital limb deformities, double knee, sciatic artery, sciatic artery aneurysm , soft tissue hypertrophy

Procedia PDF Downloads 133
1065 Impact of Pediatric Cardiac Rehabilitation on the Physical Condition of Children with Congenital Heart Defects

Authors: Hady Atef Labib

Abstract:

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 297
1064 Need for a National Newborn Screening Programme in India: Pilot Study Data

Authors: Sudheer Moorkoth, Leslie Edward Lewis, Pragna Rao

Abstract:

Newborn screening (NBS) is a part of routine newborn care in many countries worldwide to detect early any rare treatable conditions and inborn errors of metabolism (IEM). India has not started this program yet. In an attempt to understand the challenges in implementing a national newborn screening program in India, we initiated a pilot newborn screening project funded by the Government of Canada. Along with initiating the newborn screening at Kasturba Hospital, Manipal in South India, for screening six disorders (Congenital Hypothyroidism(CH), Congenital Adrenal Hyperplasia (CAH), Galactosemia, Biotinidase deficiency, Glucose-6-Phosphate Dehydrogenase deficiency (G-6PD) and Phenylketonurea), we also studied the awareness of various stakeholders on the newborn screening. In a period of nine months from August 2017 to March 2018 we could screen 1915 newborns (999 male and 916 female). The result showed that there were seven babies screened positive. This interim result points to an incidence rate of 1 in 270 children for these rare disorders collectively. This includes three confirmed cases of CH, two cases of G-6PD deficiency, and one case each for Galctosemia and CAH. A questionnaire based study to understand the awareness among various stakeholders revealed that there is little awareness among parents, adolescents and anganwadi workers (public health worker). The interim data points to the need for a national newborn screening programme in India. There is also an immediate need to undertake large-scale awareness programme to create knowledge on NBS among the various stakeholders.

Keywords: awareness, inborn errors of metabolism (IEM), newborn screening, rare disease

Procedia PDF Downloads 171
1063 Characteristic and Prevalence of Cleft Lip and Palate Patient in Bandung Cleft Lip and Palate Center: A Descriptive Study

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 75
1062 Comparative Evaluation of Postoperative Cosmesis, Mydriasis and Anterior Chamber Morphology after Single-Pass Four-Throw Pupilloplasty between Traumatic and Congenital Iris Defects

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

Abstract:

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

Procedia PDF Downloads 43
1061 First Approximation to Congenital Anomalies in Kemp's Ridley Sea Turtle (Lepidochelys kempii) in Veracruz, Mexico

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

Abstract:

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 77
1060 Mutations in the GJB2 Gene Are the Cause of an Important Number of Non-Syndromic Deafness Cases

Authors: Habib Onsori, Somayeh Akrami, Mohammad Rahmati

Abstract:

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 416
1059 Extremely Large Sinus Pericranii with Involvement of the Torcular and Associated with Crouzon’s Syndrome

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

Abstract:

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 140
1058 Identification of Candidate Congenital Heart Defects Biomarkers by Applying a Random Forest Approach on DNA Methylation Data

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

Abstract:

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 79
1057 Family Functionality in Mexican Children with Congenital and Non-Congenital Deafness

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

Abstract:

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

Procedia PDF Downloads 350
1056 The Connection between Social Support, Caregiver Burden, and Life Satisfaction of the Parents Whose Children Have Congenital Heart Disease

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

Abstract:

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 233
1055 Acoustic Analysis of Psycho-Communication Disorders within Moroccan Students

Authors: Brahim Sabir

Abstract:

Psycho-Communication disorders negatively affect the academic curriculum for students in higher education. Thus, understanding these disorders, their causes and effects will give education specialists a tool for the decision, which will lead to the resolution of problems related to the integration of students with Psycho-Communication disorders. It is in this context that a statistical study was conducted, targeting the population object of study, namely Moroccan students. Pathological voice samples were recorded and analyzed acoustically with PRAAT software, in order to build a model that will be the basis for the objective diagnostic.

Keywords: psycho-communication disorders, acoustic analysis, PRAAT

Procedia PDF Downloads 300
1054 Epidemiological Analysis of the Patients Supplied with Foot Orthoses in Ortho-Prosthetic Center of Kosovo

Authors: Ardiana Murtezani, Ilirijana Dallku, Teuta Osmani Vllasolli, Sabit Sllamniku

Abstract:

Background: The use of foot orthoses are always indicated when there are alterations of the optimal biomechanics' position of the foot. Orthotics are very effective and very suitable for the majority of patients with pain due to overload which can be related to biomechanical disorders. Aim: To assess the frequency of patients requiring foot orthoses, type of orthoses and analysis of their disease leading to the use of foot orthoses. Material and Methods: Our study included 128 patients with various foot pathologies, treated at the outpatient department of the Ortho-Prosthetic Center of Kosovo (OPCK) in Prishtina. Prospective-descriptive clinical method was used during this study. Functional status of patients was examined, and the following parameters are noted: range of motion measurements for the affected joints/lower extremities, manual test for muscular strength below the knee and foot of the affected extremity, perimeter measurements of the lower extremities, measurements of lower extremities, foot length measurement, foot width measurements and size. In order to complete the measurements the following instruments are used: plantogram, pedogram, meter and cork shoe lift appliances. Results: The majority of subjects in this study are male (60.2% vs. 39.8%), and the dominant age group was 0-9 (47.7%), 61 subjects respectively. Most frequent foot disorders were: congenital disease 60.1%, trauma cases 13.3%, consequences from rheumatologic disease 12.5%, neurologic dysfunctions 11.7%, and the less frequented are the infectious cases 1.6%. Congenital anomalies were the most frequent cases, and from this group majority of cases suffered from pes planovalgus (37.5%), eqinovarus (15.6%) and discrepancies between extremities (6.3%). Furthermore, traumatic amputations (2.3%) and arthritis (0.8%). As far as neurologic disease, subjects with cerebral palsy are represented with (3.1%), peroneal nerve palsy (2.3%) and hemiparesis (1.6%). Infectious disease osteomyelitis sequels are represented with (1.6%). Conclusion: Based on our study results, we have concluded that the use of foot orthoses for patients suffering from rheumatoid arthritis and nonspecific arthropaty was effective treatment choice, leading to decrease of pain, less deformities and improves the quality of life.

Keywords: orthoses, epidemiological analysis, rheumatoid arthritis, rehabilitation

Procedia PDF Downloads 159
1053 The Relation between Body Mass Index and Menstrual Cycle Disorders in Medical Students of University Pelita Harapan, Indonesia

Authors: Gabriella Tjondro, Julita Dortua Laurentina Nainggolan

Abstract:

Introduction: There are several things affecting menstrual cycle, namely, nutritional status, diet, financial status of one’s household and exercises. The most commonly used parameter to calculate the fat in a human body is body mass index. Therefore, it is necessary to do research to prevent complications caused by menstrual disorder in the future. Design Study: This research is an observational analytical study with the cross-sectional-case control approach. Participants (n = 124; median age = 19.5 years ± SD 3.5) were classified into 2 groups: normal, NM (n = 62; BMI = 18-23 kg/m2) and obese, OB (n = 62; BMI = > 25 kg/m2). BMI was calculated from the equation; BMI = weight, kg/height, m2. Results: There were 79.10% from obese group who experienced menstrual cycle disorders (n=53, 79.10%; p value 0.00; OR 5.25) and 20.90% from normal BMI group with menstrual cycle disorders. There were several factors in this research that also influence the menstrual cycle disorders such as stress (44.78%; p value 0.00; OR 1.85), sleep disorders (25.37%; p value 0.00; OR 1.01), physical activities (25.37%; p value 0.00; OR 1.24) and diet (10.45%; p value 0.00; OR 1.07). Conclusion: There is a significant relation between body mass index (obese) and menstrual cycle disorders. However, BMI is not the only factor that affects the menstrual cycle disorders. There are several factors that also can affect menstrual cycle disorders, in this study we use stress, sleep disorders, physical activities and diet, in which none of them are dominant.

Keywords: menstrual disorders, menstrual cycle, obesity, body mass index, stress, sleep disorders, physical activities, diet

Procedia PDF Downloads 77
1052 Congenital Diaphragmatic Hernias Laparoscopic Repair is Feasible in Peripheral Hospitals

Authors: Fedorenko Andriy, Dubin Daniel, Lili Hayari, Yulevich Alon,

Abstract:

Background: Laparoscopic repair of congenital diaphragmatic hernias can be done in suitable infants and children with good long-term results. The benefits include a lower risk of infection, less intra-abdominal adhesions, and early recovery while being a “scar-less“procedure. Materials and methods: Three patients are described: a 9-months-old infant with a late presentation of Bochdalek left diaphragmatic hernia, and 2more patients with Morgagni congenital diaphragmatic hernia, a 1-year-old infant, and a 3-year-old toddler. All procedures were performed in an abdominal approach using 3 and 5 mm ports and a 5mm 30 degrees camera. Suturing of the diaphragmatic defect was done with unabsorbed materials (Ethibond® 4.0). Results: All patients recovered quickly and uneventfully, no intra-operative complications were noted, and the patients were discharged between the 3rd-6thpostoperative day. The follow-up period is now between 4-25 months, and so far, there is no evidence of recurrence. Conclusion: Laparoscopic surgery is used more and more in infants and smaller cavities by pediatric surgeons. Laparoscopic repair of congenital diaphragmatic hernias in infants and toddlers can safely be performed in peripheral hospitals by skilled pediatric surgeons with good results. Our follow-up period is relatively short, and because of the relatively common recurrence rate in those patients, 15-40% in different reports, both in laparoscopic and open repair, long-term follow-up is required. The main objective of this study was to show that minimally invasive procedures in infants and toddlers are feasible in peripheral hospitals

Keywords: laparoscopy, peripheral hospitals, infants, toddlers

Procedia PDF Downloads 52
1051 Copy Number Variants in Children with Non-Syndromic Congenital Heart Diseases from Mexico

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

Abstract:

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

Procedia PDF Downloads 223
1050 Relationships between the Components of Love by Stenberg and Personality Disorder Traits

Authors: Barbara Gawda

Abstract:

The study attempts to show the relationship between the structure of love by Sternberg and personality disorder traits. People with personality disorders experience dysfunctional emotionality. They manifest difficulties in experiencing love and closeness. Their relationships are marked by ambivalence and conflicts, e.g., as in borderline and narcissistic personality disorders. Considering love as a crucial human feeling, the study was planned to describe the associations between intimacy, passion, commitment, and personality disorder traits in a community sample. A sample of 194 participants was investigated (men and women in similar age and education levels). The following techniques were used: the SCID-II to assess personality disorders’ traits and the Triangular Love Scale by Sternberg to assess the components of love. Results show there are significant negative correlations between intimacy, commitment and personality disorders traits. Many personality disorders are associated with decreasing of intimacy and commitment, whereas passion was not associated with personality disorders’ traits. Results confirm that emotional impairments in personality disorders elicit conflicts and problems in relationships based on love and closeness.

Keywords: intimacy, commitment, love, passion, personality disorders

Procedia PDF Downloads 166
1049 Molecular Defects Underlying Genital Ambiguity in Egyptian Patients: A Systematic Review

Authors: Y. Z. Gad

Abstract:

Disorders of Sex Development (DSD) are defined as congenital conditions in which development of chromosomal, gonadal or anatomical sex is atypical. The DSD are relatively prevalent in Egypt. In spite of that, the relative rarity of the individual disease types or their molecular pathologies frequently resulted in reporting on single or few cases. This augmented the challenging nature of phenotype-genotype correlation in this disease group and its utilization in the management of such medical emergency. Through critical assessment of the published DSD reports, the current review aims at analyzing the clinical characteristics of the various DSD forms in relation to the underlying molecular pathologies. A systematic literature search was done in Pubmed, using relevant keywords (Egypt versus DSD, genital ambiguity or ambiguous genitalia, the old terms of 'intersex, hermaphroditism and pseudohermaphroditism', and a list of the DSD entities and their related genes). The search yielded 24 reports of molecular data in Egyptian patients presenting with ambiguous genitalia. However, only 21 publications fulfilled the criteria of inclusion of detailed clinical descriptions and definitive molecular diagnoses of individual patients. Curation of the data yielded a total of 53 cases that were ascertained from 40 families. Fifty-one patients present with ambiguous genitalia only while 2 had multiple congenital anomalies. Parental consanguinity was noted in 60% of cases. Sex of rearing at initial presentation was female in 75% and 60% in 46,XY and 46,XX DSD cases, respectively. The external genital phenotype in 2/3 of the 46,XY DSD cases showed moderate undermasculinization [Quigley scores 3 & 4] and 1/3 had severe presentations [scores 5 & 6]. For 46,XX subjects, 1 had severe virilization of the external genitalia while 8 had moderate phenotype. Hormonal data were inconclusive or contradictory to final diagnosis in a forth of cases. Collectively, 31 families [31/40, 77.5%] with 46,XY DSD had molecular defects in the genes, 5 alpha reductase 2 (SRD5A2) [12/31], 17 beta-hydroxysteroid dehydrogenase 3 [8/31], androgen receptor [7/31], Steroidogenic factor 1 [2/31], luteinizing hormone receptor [1/31], and fibroblast growth factor receptor 1 [1/31]. In a multiethnic study, 9 families afflicted with 46,XX DSD due to 11 beta hydroxylase (CYP11B1) deficiency were documented. Two recurrent mutations, G34R and N160D, in SRD5A2 were present, respectively, in 42 and 17% of cases. Similarly, 4 recurrent mutations resulted in 89% of the CYP11B1 presentations. In conclusion, this analysis highlights the importance of autosomal recessive inheritance and inbreeding among DSD presentations, the importance of founder effect in at least 2 disorders, the difficulties in relating the genotype with the indeterminate genital phenotype, the under-reporting of some DSD subtypes, and the notion that the reported mutational profiles among Egyptian DSD cases are relatively different from those reported in other ethnic groups.

Keywords: disorders of sex development, genital ambiguity, mutation, molecular diagnosis, Egypt

Procedia PDF Downloads 60
1048 The Transcription Factor HNF4a: A Key Player in Haematological Disorders

Authors: Tareg Belali, Mosleh Abomughaid, Muhanad Alhujaily

Abstract:

HNF4a is one of the steroid hormone receptor family of transcription factors with roles in the development of the liver and the regulation of several critical metabolic pathways, such as glycolysis, drug metabolism, and apolipoproteins and blood coagulation. The transcriptional potency of HNF4a is well known due to its involvement in diabetes and other metabolic diseases. However, recently HNF4a has been discovered to be closely associated with several haematological disorders, mainly because of genetic mutations, drugs, and hepatic disorders. We review HNF4a structure and function and its role in haematological disorders. We discuss possible good therapies that are based on targeting HNF4a.

Keywords: hepatocyte nuclear factor 4 alpha, HNF4a nuclear receptor, steroid hormone receptor family of transcription factors, hematological disorders

Procedia PDF Downloads 25
1047 Two Cases of VACTERL Association in Pregnancy with Lymphocyte Therapy

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

Abstract:

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

Procedia PDF Downloads 374
1046 Whitnall’s Sling Will Be an Alternative Method for the Surgical Correction of Poor Function Ptosis

Authors: Titap Yazicioglu

Abstract:

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

Procedia PDF Downloads 16
1045 Perceived Criticism, Anxiety Disorders, Substance Use Disorders in Women with Borderline Personality Disorders

Authors: Ipek Sensu

Abstract:

Comorbid Axis I disorders are highly common for suicidal borderline personality disorder (BPD) patients, especially substance use disorder and anxiety disorders. Since interpersonal dysfunction is one of the core symptoms in BPD, the purpose of the current study is to examine perceived criticism and anxiety disorders and also substance abuse disorders (SUD) for women with borderline personality disorder (BPD) who attempt suicide at least once in their lifetime. In the current study, it was suggested that the perceived criticism from others and being upset by criticism differ between suicidal women with BPD with comorbidity of anxiety disorders and SUD (separately) and suicidal women with BPD without anxiety disorders and without SUD (separately). The participants in this study included ninety-nine women who have already been diagnosed with borderline personality disorder and also have had at least two episodes of deliberate self-harm, in other words, suicide attempts and/or non-suicidal self-injury (NSSI) in the last five years and at least one episode in the 8-week period before joining the research study and at least one suicide attempt in the previous year. Structured Clinical Interview for DSM-IV Axis I Disorders (SCID) and Social History Interview (SHI) were conducted to determine the comorbid axis I disorders and level of perceived criticism. As a result of the independent sample t-tests, the first hypothesis was rejected, in other words, women with BPD and a comorbid anxiety disorder did not show significantly higher levels of ‘criticized by others’, compared to women with BPD alone. However, the levels of ‘upset at criticism’ were significantly different between suicidal women with BPD with or without any anxiety disorders, which is the second hypothesis. In addition, the third hypothesis was also accepted; this means, women with BPD who had any substance use dependence would show significantly higher levels of 'criticized by others' compared to women with BPD alone. Finally, the fourth hypothesis was partly accepted: that is, women with BPD with alcohol dependence had significantly higher levels of ‘how upset when they expose to criticism’, compared to those without alcohol dependence. Limitations, implications, and directions for future research are discussed.

Keywords: anxiety disorders, borderline personality disorders, perceived criticism, substance use disorders

Procedia PDF Downloads 48
1044 Data Disorders in Healthcare Organizations: Symptoms, Diagnoses, and Treatments

Authors: Zakieh Piri, Shahla Damanabi, Peyman Rezaii Hachesoo

Abstract:

Introduction: Healthcare organizations like other organizations suffer from a number of disorders such as Business Sponsor Disorder, Business Acceptance Disorder, Cultural/Political Disorder, Data Disorder, etc. As quality in healthcare care mostly depends on the quality of data, we aimed to identify data disorders and its symptoms in two teaching hospitals. Methods: Using a self-constructed questionnaire, we asked 20 questions in related to quality and usability of patient data stored in patient records. Research population consisted of 150 managers, physicians, nurses, medical record staff who were working at the time of study. We also asked their views about the symptoms and treatments for any data disorders they mentioned in the questionnaire. Using qualitative methods we analyzed the answers. Results: After classifying the answers, we found six main data disorders: incomplete data, missed data, late data, blurred data, manipulated data, illegible data. The majority of participants believed in their important roles in treatment of data disorders while others believed in health system problems. Discussion: As clinicians have important roles in producing of data, they can easily identify symptoms and disorders of patient data. Health information managers can also play important roles in early detection of data disorders by proactively monitoring and periodic check-ups of data.

Keywords: data disorders, quality, healthcare, treatment

Procedia PDF Downloads 361
1043 Variational Evolutionary Splines for Solving a Model of Temporomandibular Disorders

Authors: Alberto Hananel

Abstract:

The aim of this work is to modelize the occlusion of a person with temporomandibular disorders as an evolutionary equation and approach its solution by the construction and characterizing of discrete variational splines. To formulate the problem, certain boundary conditions have been considered. After showing the existence and the uniqueness of the solution of such a problem, a convergence result of a discrete variational evolutionary spline is shown. A stress analysis of the occlusion of a human jaw with temporomandibular disorders by finite elements is carried out in FreeFem++ in order to prove the validity of the presented method.

Keywords: approximation, evolutionary PDE, Finite Element Method, temporomandibular disorders, variational spline

Procedia PDF Downloads 293
1042 Congenital Malformations in Neonate Dogs in the Sao Paulo State University Veterinary Hospital, Botucatu, Sao Paulo, Brazil

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

Abstract:

Congenital malformations are organ defects due to genetic or teratogenic causes, which can lead to high mortality in dog litters. This study assessed and described the congenital malformations in newborn dogs. The study included litters attend in the São Paulo State University (UNESP) Veterinary Hospital, Botucatu, Sao Paulo, Brazil. One hundred seventy-eight litters and 803 newborns were evaluated. The occurrence of litters with malformations was 24.7%, and of newborns was 6.7%. Twenty-seven different malformations were registered: anasarca, anal atresia, cleft lip, cleft palate, duplicated right ribcage, equinovarus, exencephaly, gastroschisis, hydrocephaly, lissencephaly, macroglossia, microphthalmia, mitral valve dysplasia, omphalocele, eyelid agenesis, persistent urachus, polydactyly, pulmonary hypoplasia, pulmonary valve stenosis, rectovaginal fistula, agenesis of abdominal muscles, rib hypoplasia, scoliosis, segmental aplasia of the intestines, tricuspid valve dysplasia, unilateral kidney agenesis, and vaginal atresia. 68.7% of newborns died as a result of malformations. The pure breeds with the highest chances of manifesting malformations in contrast with mixed breeds were French Bulldog, Pug, English Bulldog, Rottweiler, German Spitz, Pinscher, Pitbull, Yorkshire Terrier, and Shih-Tzu. Significant values (P<0.05) occurred in races French Bulldogs and Pugs. The causes of congenital disabilities are possibly related to hereditary genetic factors considering that the highest incidence of malformations was observed among purebreds. There as one case of exposure to a teratogenic agent, but no other mothers were exposed to such agents during pregnancy. Two cases of consanguineal breeding between siblings were reported. The mortality rate was high. Genetic breeding programs for reproduction, avoiding consanguineous mating, care in choosing parents, and avoiding maternal exposure to teratogenic agents are of utmost importance in reducing dog malformations and consequent mortality.

Keywords: congenital defects, teratogenesis, canine neonatology, newborn puppy

Procedia PDF Downloads 60
1041 Klippel Feil Syndrome: A Case Report and Review of Literature

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

Abstract:

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

Procedia PDF Downloads 395
1040 Klinefelter Syndrome Presenting with Perinatal Ascites Associated with Unilateral Renal Agenesis and a Prostatic Utricle Cyst: A Case Report

Authors: Xuxin Lim, Rambha Rai, Suresh Chandran, Anette Jacobsen

Abstract:

We present a rare case of Klinefelter syndrome who presented with perinatal ascites, unilateral renal agenesis and a prostatic utricle cyst. Antenatally, amniocentesis revealed a fetal karyotype of Klinefelter syndrome (47, XXY), and the 34-week ultrasound scan showed a cyst measuring 17mm x 21mm x 27mm located inferior-posterior to the bladder. There were no ascites noted then, but a small left pelvic kidney was present. We report the first case of Klinefelter syndrome associated with a prostatic utricle cyst and unilateral renal agenesis, presenting with neonatal ascites.

Keywords: congenital disorders, utricle cyst, neonatal, surgery, prostate

Procedia PDF Downloads 39
1039 Fuzzy Logic in Detecting Children with Behavioral Disorders

Authors: David G. Maxinez, Andrés Ferreyra Ramírez, Liliana Castillo Sánchez, Nancy Adán Mendoza, Carlos Aviles Cruz

Abstract:

This research describes the use of fuzzy logic in detection, assessment, analysis and evaluation of children with behavioral disorders. It shows how to acquire and analyze ambiguous, vague and full of uncertainty data coming from the input variables to get an accurate assessment result for each of the typologies presented by children with behavior problems. Behavior disorders analyzed in this paper are: hyperactivity (H), attention deficit with hyperactivity (DAH), conduct disorder (TD) and attention deficit (AD).

Keywords: alteration, behavior, centroid, detection, disorders, economic, fuzzy logic, hyperactivity, impulsivity, social

Procedia PDF Downloads 449
1038 Nutrition Role in the Management of Psychiatric Disorders

Authors: Abeer Mohammed, Nevein Mustafa Elashery, Mona Hassan Abdel Aal, Ereny Wilson Nagib

Abstract:

The Aim of the current study is to investigate nutrition role in the management of psychiatric disorders. Research Design: A quasi- experimental research design was utilized for this study. Setting The study was conducted at outpatient clinic at Institute of Psychiatry affiliated to Ain Shams University hospitals, using a convenient sample of 50 psychiatric patients with depression, schizophrenia, bipolar disorders, and obsessive compulsive disorders. Tools: data were collected through; first, an interview questionnaire covering socio-demographic characteristics, second, nutrition assessment tools Third, nutrition risk assessment. Fourth, nutrition management program Results showed that there were highly statistically significant improvements in modified nutritional supplements for patients with depression, schizophrenia, bipolar disorders, and obsessive compulsive disorders' patients after conducting the nutrition management program. Regarding psychiatric patients’ knowledge about healthy food, healthy nutritional habits, and patients’ awareness & readiness for change, there were highly statistically significant improvements. Concerning signs and symptoms of psychiatric disorders, there were highly statistically significant improvements for depression, schizophrenia, bipolar disorders, and obsessive-compulsive patients after conducting the management program. In conclusion, the nutrition management program was effective in improving symptoms associated with, depression, schizophrenia, bipolar disorders, and obsessive compulsive disorders. The study recommended that nurses should have more contribution in counseling psychiatric patients, and their families about healthy diet and healthy habits. Further research should recommend studying the effectiveness of herbs on enhancing mental health for psychiatric patients.

Keywords: nutrition, role, management, psychiatric disorders

Procedia PDF Downloads 188