Search results for: congenital abnormalities

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

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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

Procedia PDF Downloads 457

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

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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

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Authors: Mohit Kumar, Beklashwar Salona, Shiv Murti, Mukesh Singh

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We report here a case of five-months old male baby, born as second child of non-consanguineous parents with no considerable history of genetic abnormality which was referred to our cytogenetic laboratory for chromosomal analysis. Physical dysmorphic facial features including mongoloid face, cleft palate, simian crease, and developmental delay were observed. We present this case with unique balanced autosomal translocation of t(3;10)(p21;p13). The risk of phenotypic abnormalities based on de novo balanced translocation was estimated to be 7%. The association of balanced chromosomal rearrangement with Down syndrome features such as multiple congenital anomalies, facial dysmorphism and congenital heart anomalies are very rare in a 5-months old male child. Trisomy-21 is not uncommon in chromosomal abnormality with the birth defect and balanced translocations are frequently observed in patients with secondary infertility or recurrent spontaneous abortion (RSA). Two ml heparinized peripheral blood cells cultured in RPMI-1640 for 72 hours supplemented with 20% fetal bovine serum, phytohemagglutinin (PHA), and antibiotics were used for chromosomal analysis. A total 30 metaphases images were captured using Olympus-BX51 microscope and analyzed using Bio-view karyotyping software through GTG-banding (G bands by trypsin and Giemsa) according to International System for Human Cytogenetic Nomenclature 2016. The results showed balanced translocation between short arm of chromosome # 3 and short arm of chromosome # 10. The karyotype of the child was found to be 46,XY,t(3;10)(p21; p13). Chromosomal abnormalities are one of the major causes of birth defect in new born babies. Also, balanced translocations are frequently observed in patients with secondary infertility or recurrent spontaneous abortion. The index case presented with dysmorphic facial features and had a balanced translocation 46,XY,t(3;10)(p21;p13). This translocation with break points at (p21; p13) has not been reported in the literature in a child with facial dysmorphism. To the best of our knowledge, this is the first report of novel balanced translocation t(3;10) with break points in a child with dysmorphic features. We found balanced chromosomal translocation instead of any trisomy or unbalanced aberrations along with some phenotypic abnormalities. Therefore, we suggest that such novel balanced translocation with abnormal phenotype should be reported in order to enable the pathologist, pediatrician, and gynecologist to have a better insight into the intricacies of chromosomal abnormalities and their associated phenotypic features. We hypothesized that dysmorphic features as seen in this case may be the result of change in the pattern of genes located at the breakpoint area in balanced translocations or may be due to deletion or mutation of genes located on the p-arm of chromosome # 3 and p-arm of chromosome # 10.

Keywords: balanced translocation, karyotyping, phenotypic abnormalities, facial dimorphisms

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

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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

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Authors: Lakshmi Rao Kandukuri, Mamata Deenadayal, Suma Prasad, Bipin Sethi, Srinadh Buragadda, Lalji Singh

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Worldwide; at least 7.6 million children are born annually with severe genetic or congenital malformations and among them 90% of these are born in mid and low-income countries. Precise prevalence data are difficult to collect, especially in developing countries, owing to the great diversity of conditions and also because many cases remain undiagnosed. The genetic and congenital disorder is the second most common cause of infant and childhood mortality and occurs with a prevalence of 25-60 per 1000 births. The higher prevalence of genetic diseases in a particular community may, however, be due to some social or cultural factors. Such factors include the tradition of consanguineous marriage, which results in a higher rate of autosomal recessive conditions including congenital malformations, stillbirths, or mental retardation. Genetic diseases can vary in severity, from being fatal before birth to requiring continuous management; their onset covers all life stages from infancy to old age. Those presenting at birth are particularly burdensome and may cause early death or life-long chronic morbidity. Genetic testing for several genetic diseases identifies changes in chromosomes, genes, or proteins. The results of a genetic test can confirm or rule out a suspected genetic condition or help determine a person's chance of developing or passing on a genetic disorder. Several hundred genetic tests are currently in use and more are being developed. Chromosomal abnormalities are the major cause of human suffering, which are implicated in mental retardation, congenital malformations, dysmorphic features, primary and secondary amenorrhea, reproductive wastage, infertility neoplastic diseases. Cytogenetic evaluation of patients is helpful in the counselling and management of affected individuals and families. We present here especially chromosomal abnormalities which form a major part of genetic disease burden in India. Different programmes on chromosome research and human reproductive genetics primarily relate to infertility since this is a major public health problem in our country, affecting 10-15 percent of couples. Prenatal diagnosis of chromosomal abnormalities in high-risk pregnancies helps in detecting chromosomally abnormal foetuses. Such couples are counselled regarding the continuation of pregnancy. In addition to the basic research, the team is providing chromosome diagnostic services that include conventional and advanced techniques for identifying various genetic defects. Other than routine chromosome diagnosis for infertility, also include patients with short stature, hypogonadism, undescended testis, microcephaly, delayed developmental milestones, familial, and isolated mental retardation, and cerebral palsy. Thus, chromosome diagnostics has found its applicability not only in disease prevention and management but also in guiding the clinicians in certain aspects of treatment. It would be appropriate to affirm that chromosomes are the images of life and they unequivocally mirror the states of human health. The importance of genetic counseling is increasing with the advancement in the field of genetics. The genetic counseling can help families to cope with emotional, psychological, and medical consequences of genetic diseases.

Keywords: India, chromosome abnormalities, genetic disorders, cytogenetic study

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Authors: Nasreen Abdulmannan

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Fetal abnormalities are categorized as a structural abnormality, non-structural abnormality, or a combination of both. Fetal structural abnormalities (FSA) include, but are not limited, to Down syndrome, congenital diaphragmatic hernia, and cleft lip and palate. These abnormalities can be detected in the first weeks of pregnancy, which is almost around 9 - 20 weeks gestational. Etiological factors for FSA are unknown; however, transmitted genetic risk can be one of these factors. Consanguineous marriage often referred to as inbreeding, represents a significant risk factor for FSA due to the increased likelihood of deleterious genetic traits shared by both biological parents. In a country such as the Kingdom of Saudi Arabia (KSA), consanguineous marriage is high, which creates a significant risk of children being born with congenital abnormalities. Historically, the practice of consanguinity occurred commonly among European royalty. For example, Great Britain’s Queen Victoria married her German first cousin, Prince Albert of Coburg. Although a distant blood relationship, the United Kingdom’s Queen Elizabeth II married her cousin, Prince Philip of Greece and Denmark—both of them direct descendants of Queen Victoria. In Middle Eastern countries, a high incidence of consanguineous unions still exists, including in the KSA. Previous studies indicated that a significant gap exists in understanding the lived experiences of Saudi women dealing with an FSA-complicated pregnancy. Eleven participants were interviewed using a semi-structured interview format for this qualitative phenomenological study investigating the lived experiences of pregnant Saudi women carrying a child with FSA. This study explored the gaps in current literature regarding the lived experiences of pregnant Saudi women whose pregnancies were complicated by FSA. In addition, the researcher acquired knowledge about the available support and resources as well as the Saudi cultural perspective on FSA. This research explored the lived experiences of pregnant Saudi women utilizing Giorgi’s (2009) approach to data collection and data management. Findings for this study cover five major themes: (1) initial maternal reaction to the FSA diagnosis per ultrasound screening; (2) strengthening of the maternal relationship with God; (3) maternal concern for their child’s future; (4) feeling supported by their loved ones; and (5) lack of healthcare provider support and guidance. Future research in the KSA is needed to explore the network support for these mothers. This study recommended further clinical nursing research, nursing education, clinical practice, and healthcare policy/procedures to provide opportunities for improvement in nursing care and increase awareness in KSA society.

Keywords: fetal structural abnormalities, psychological distress, health provider, health care

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Authors: Madeleine Gadd, Rose How, Edward Mathews, John Buchanan, Vicky Cottrell, Andre Coetzee, Karuna Katti

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Introduction: Triphallia, a congenital anomaly describing the presence of three distinct penile shafts, has been reported only once in the literature. This case report describes the serendipitous discovery of the first reported human case of partial orthotopic triphallia during cadaveric dissection. Case Summary: Despite the normal appearance of external genitalia on examination, the dissection of a 78-year-old male revealed a remarkable anatomical variation: two small supernumerary penises situated in a transverse orientation postero inferiorly to the primary penis. The main and the larger supernumerary penile shafts displayed their own corpora cavernosa and glans penis, sharing a single urethra, which coursed through the secondary penis prior to its passage through the primary penis. The smallest of the supernumerary penises was similar in dimension to the secondary penis, at 3.7cm long and 1.2cm wide (compared to the secondary penis at 3.8cm long and 1.3cm wide). However, it lacked a urethra and a typical arrangement of the corpora cavernosa and spongiosum, making this a case of partial triphallia rather than true triphallia. Conclusion: This case report provides a comprehensive anatomical description of partial triphallia in a cadaver, shedding light on the morphology, embryology, and clinical implications of this anomaly. This case report underscores the importance of meticulous anatomical dissections, particularly since, without dissection, this anatomical variation would have remained undiscovered. Although we can only speculate the functional implications of this condition, understanding such anatomical variations contributes to both knowledge of human anatomy and clinical management, should the condition be encountered in living individuals.

Keywords: triphallia, diphallia, congenital abnormalities, genitourinary abnormalities, urology

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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

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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

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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

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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

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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

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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

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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

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Authors: Md. Shafiullah, M. Shafiul Alam, Bandar Suliman Alsharif

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Electrical quantities such as frequency, voltage, current are being fluctuated due to abnormalities in power system. Most of the abnormalities cause fluctuation in system frequency and sometimes extreme abnormalities lead to system blackout. To protect the system from complete blackout planned and proper islanding plays a very important role even in case of extreme abnormalities. Islanding operation not only helps stabilizing a faulted system but also supports power supplies to critical and important loads, in extreme emergency. But the islanding systems are weaker than integrated system so the stability of islands is the prime concern when an integrated system is disintegrated. In this paper, different impacts on a load rich island have been studied and a frequency based auto-load shedding scheme has been developed for sudden load addition, generation outage and combined effect of both to the island. The developed scheme has been applied to Khulna-Barisal Island to validate the effectiveness of the developed technique. Various types of abnormalities to the test system have been simulated and for the simulation purpose CYME PSAF (Power System Analysis Framework) has been used.

Keywords: auto load shedding, FS&FD relay, impact study, island, PSAF, ROCOF

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Authors: Steven Robinson, Adriana Dager, Param Patel

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Wandering spleen is a rare variant where there is abnormal development of the ligamentous peritoneal attachments of the spleen which normally anchor it in the left upper quadrant of the abdomen. Ligamentous abnormalities can be congenital, or acquired through pregnancy, injury, or iatrogenic causes. Absence or laxity of these ligaments allows migration of the spleen into ectopic portions of the abdomen, which is also associated with an elongated vascular pedicle. Incidence of wandering spleen is reported at less than 0.25% with a female to male ratio of approximately 6:1. The most common complication of a wandering spleen is torsion around its vascular pedicle which can lead to thrombosis and infarction. Torsion of a wandering spleen is a rare but important cause of an acute abdomen. Imaging, and specifically CT or ultrasound, is crucial in the diagnosis. We present a case of a torsed wandering spleen which was treated with splenectomy.

Keywords: Wandering Spleen, Torsion, Splenic Torsion, Spleen

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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

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Authors: Manali Jain, Neeta Singh, Raunaq Fatima, Soniya Nityanand, Mandakini Pradhan, Chandra Prakash Chaturvedi

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Isolated Congenital Heart Defect (ICHD) is the major cause of neonatal death worldwide among all forms of CHDs. A significant proportion of fetuses with ICHD die in the neonatal period if no treatment is provided. Recently, stem cell therapies have emerged as a potential approach to ameliorate ICHD in children. ICHD is characterized by cardiac structural abnormalities during embryogenesis due to alterations in the cardiomyogenic properties of a pool of cardiac progenitors/ stem cells associated with fetal heart development. The stem cells present in the amniotic fluid (AF) are of fetal origin and may reflect the physiological and pathological changes in the fetus during embryogenesis. Therefore, in the present study, the cardiomyogenic potential of AF-MSCs derived from fetuses with ICHD (ICHD AF-MSCs) has been evaluated and compared with that of AF-MSCs of structurally normal fetuses (normal AF-MSCs). Normal and ICHD AF-MSC were analyzed for the expression of cardiac progenitor markers viz., stage-specific embryonic antigen-1 (SSEA-1), vascular endothelial growth factor 2 (VEGFR-2) and platelet-derived growth factor receptor-alpha (PDGFR-α) by flow cytometry. The immunophenotypic characterization revealed that ICHD AF-MSCs have significantly lower expression of cardiac progenitor markers VEGFR-2 (0.14% ± 0.6 vs.48.80% ± 0.9; p <0.01), SSEA-1 (70.86% ± 2.4 vs. 88.36% ±2.7; p <0.01), and PDGFR-α (3.92% ± 1.8 vs. 47.59% ± 3.09; p <0.01) in comparison to normal AF-MSCs. Upon induction with 5’-azacytidine for 21 days, ICHD AF-MSCs showed a significantly down-regulated expression of cardiac transcription factors such as GATA-4 (0.4 ± 0.1 vs. 6.8 ± 1.2; p<0.01), ISL-1 (2.3± 0.6 vs. 14.3 ± 1.12; p<0.01), NK-x 2-5 (1.1 ± 0.3 vs. 14.1 ±2.8; p<0.01), TBX-5 (0.4 ± 0.07 vs. 4.4 ± 0.3; p<0.001), and TBX-18 (1.3 ± 0.2 vs. 4.19 ± 0.3; p<0.01) when compared with the normal AF-MSCs. Furthermore, immunocytochemical staining revealed that both types of AF-MSCs could differentiate into cardiovascular lineages and express cardiomyogenic, endothelial, and smooth muscle actin markers, viz., cardiac troponin (cTNT), CD31, and alpha-smooth muscle actin (α-SMA). However, normal AF-MSCs showed an enhanced expression of cTNT (p<0.001), CD31 (p<0.01), and α-SMA (p<0.05), compared to ICHD AF-MSCs. Overall, these results suggest that the ICHD-AF-MSCs have a defective cardiomyogenic differentiation potential and that the defects in these stem cells may have a role in the pathogenesis of ICHD.

Keywords: amniotic fluid, cardiomyogenic potential, isolated congenital heart defect, mesenchymal stem cells

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Authors: Hyun-Woo Cho

Abstract:

The detection and identification of multivariate manufacturing processes are quite important in order to maintain good product quality. Unusual behaviors or events encountered during its operation can have a serious impact on the process and product quality. Thus they should be detected and identified as soon as possible. This paper focused on the efficient representation of process measurement data in detecting and identifying abnormalities. This qualitative method is effective in representing fault patterns of process data. In addition, it is quite sensitive to measurement noise so that reliable outcomes can be obtained. To evaluate its performance a simulation process was utilized, and the effect of adopting linear and nonlinear methods in the detection and identification was tested with different simulation data. It has shown that the use of a nonlinear technique produced more satisfactory and more robust results for the simulation data sets. This monitoring framework can help operating personnel to detect the occurrence of process abnormalities and identify their assignable causes in an on-line or real-time basis.

Keywords: detection, monitoring, identification, measurement data, multivariate techniques

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Authors: R. Hasan

Abstract:

Male factor infertility due to endocrine disturbances such as abnormalities in prolactin levels are encountered in a significant proportion. This case control study was carried out to determine the effects of prolactin on the male reproductive tract, using 200 male white rats. The rats were maintained as the control group (G1), hypoprolactinaemic group (G2), 3 hyperprolactinaemic groups induced using oral largactil (G3), low dose fluphenazine (G4) and high dose fluphenazine (G5). After 100 days, rats were subjected to serum prolactin (PRL) level measurements and for basic seminal fluid analysis (BSA). The difference between serum PRL concentrations of rats in G2, G3, G4 and G5 as compared to the control group were highly significant by Student’s t-test (p<0.001). There were statistically significant differences in seminal fluid characteristics of rats with induced prolactin abnormalities when compared with those of control group (p value <0.05), effects were more marked as the PRL levels rise.

Keywords: male factor infertility, prolactin, seminal fluid analysis, animal studies

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

Abstract:

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: 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

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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

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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

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Authors: Azmi Ilmi Aziz, Wisnu Sadasih, Rizal Fanany

Abstract:

Purpose: This study describes systemic factors, intraocular lens (IOL), and ocular abnormalities in patients with IOL glistening at a tertiary hospital in Semarang. Methods: A retrospective, with a descriptive approach on patients with IOL glistening who visited the eye clinic between August 2019 to June 2023. Results: Twenty-five patients were examined; 11 patients (44%) had IOL glistening in their right eye, 4 patients (16%) in their left eye, and 10 patients (40%) in both eyes. The gender of patients consisted of 12 male patients (48%) and 13 female patients (52%). The median age of the patients was 68 years. The mean onset was 4.44 years after the first cataract surgery. Hypertension was found in 13 patients (52%), and diabetes was found in 9 patients (36%). Nine patients (36%) were identified with a foldable IOL with a closed loop design, and 1 patient (4%) with a PMMA IOL with an iris-fixated IOL design, while 15 other patients’ IOL were unrecorded. Glaucoma was found in 3 patients (12%). Conclusions: The result of this study showed that more than half of the patients were hypertensive, and some were glaucomatous, which had been discussed relevant in previous studies. Most IOL that could be identified was foldable IOL with a closed loop design. To our knowledge, the design of an IOL to glistening had never been explored. A longer study involving larger subjects is needed to better describe the systemic factors, IOL, and ocular abnormalities in patients with IOL glistening.

Keywords: glistening, intraocular lens, foldable IOL, PMMA IOL

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Authors: Nadiya Zahra Karimi, Amir Ghiami Rad

Abstract:

The physical health of students from an early age and the proper formation of the musculoskeletal system of their body is part of the overall health of these people. Most chronic musculoskeletal problems and pains can be controlled and reduced with education at an early age. Therefore, with the correct and timely diagnosis of these abnormalities, we can play an important role in their proper treatment and control, and in a way, raise the level of quality of life and positive self-concept in students. The aim of this study was to investigate the relationship between erectile dysfunctions of the upper limbs (head and neck, shoulder, thoracic and lumbar) and the quality of life and self-concept of male students aged 7 to 10 years. The statical population of the study consists of 227 students of shahadat boys’ primary school in khajeh city. Due to the corona pandemic conditions, the research samples were identified after screening and available according to the entrance criteria of the study. To validate the quality of life, the valid WHOQOL-BREF questionnaire will be used for self-concept variables, Dolatabadi, Fatemeh (2007) questionnaire, and for physical screening, a checkerboard, plumb line, and flexible ruler will be used. There is a negative and significant relationship between the dimensions of upper limb anomalies and quality of life factors, and also there is a negative and significant relationship between the dimensions of upper limb anomalies and self-concept factors. The results showed that there is a negative and significant relationship between head and neck abnormalities with quality of life and self-concept factors, with a significance level of less than 0.05 in male students aged 7 to 10 years.

Keywords: upper limb erectile dysfunction, quality of life, self-concept, erectile abnormalities

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