Homozygous deletion of exons 2 and 3 of NPC2 associated with Niemann–Pick disease type C

Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/134235/1/ajmga37794.pdfhttp://deepblue.lib.umich.edu/bitstream/2027.42/134235/2/ajmga37794-sup-0001-SuppData-S1.pdfhttp://deepblue.lib.umich.edu/bitstream/2027.42/134235/3/ajmga37794_am.pd

Profiling non-nutritive sucking skills in full-term and preterm neonates

Abstract Background Non-nutritive sucking (NNS) is a reflex in neonates where they suck on objects without receiving food. It aids in oral development and self-regulation. Preterm birth can affect NNS and feeding. Based on current guidelines, early evaluation is crucial for identifying any delay in normal development in this population. Hence, the current study aims to profile non-nutritive sucking skills in full-term (37 to < 42 weeks) and preterm (32 to < 37 weeks) neonates and to compare non-nutritive sucking skills between the groups. Method A total of 180 neonates completed this study. “The test for oropharyngeal dysphagia in Indian neonates” (TOD-IN) was used to profile non-nutritive sucking. The number of sucks, swallows, bursts, duration of sucking, suck/le per swallow, and pause duration was also assessed. Results There was a statistically significant difference between the groups for non-nutritive sucking at p = < .001 and Cohen’s d had a large effect size (d = 1.42). Preterm neonates had a lesser number of sucks, bursts, swallows, and duration of sucking but had a higher pause duration compared to full-term neonates. Conclusion Non-nutritive sucking skills develop with advancing postmenstrual age and a detailed profile is imperative for a proper assessment to identify progress and delays

Thyroid Function in Chronically Transfused Children with Beta Thalassemia Major: A Cross-Sectional Hospital Based Study

Background. Thalassemia is the most common genetic disorder worldwide. Use of iron chelators has improved survival but endocrine complications have become more frequent. The frequency of hypothyroidism in Beta Thalassemia Major (BTM) children ranges from 6 to 30 %. Thyroid dysfunction mainly occurs by gland infiltration, chronic tissue hypoxia, free radical injury, and organ siderosis. Objectives. (a) To evaluate the thyroid function status in chronically transfused children with BTM, in the first and second decade of life and (b) to study the influence of factors like duration and amount of blood transfusions, serum ferritin level, and iron chelation therapy on thyroid function. Methodology. BTM children, 3 years old and above, on regular blood transfusions with serum ferritin > 1500 mcg/l were included in the study. Thyroid function and ferritin assessment was done using ELISA kits. Autoimmune thyroiditis was ruled out by antithyroid peroxidase and antithyroglobulin antibody testing. Results. A study population of 83 children consisted of 49 boys (59%) and 34 girls (41%). 4.8% of the children had evidence of subclinical hypothyroidism. Among them two belonged to the first decade and the other two to the second decade of life. Mean TSH, FT4, and ferritin values among children with thyroid dysfunction were 6.38 ± 0.83 mIU/ml, 1.08 ± 0.45 ng/dl, and 3983.0±1698.30 ng/ml, respectively. The severity of thyroid dysfunction was statistically significantly associated with higher serum TSH values in children in the second decade of life with a p value = 0.001. No other significant correlation was found between oral chelation, amount and duration of blood transfusion, or serum ferritin levels. Conclusion. Subclinical hypothyroidism was the thyroid dysfunction observed in our study. Regular blood transfusions with adequate chelation may decrease incidence of thyroid dysfunction

A study on awareness and perception about perinatal death auditing among health care workers in two districts of Karnataka State, India

Background: To start perinatal death auditing, doctors should have good knowledge about it. Objectives: To know the awareness and perceptions of doctors about different aspects of perinatal death auditing like 1) different types of contributors; 2) high-risk approach; 3) consequences; 4) documentary requirements; and 5) existing system of mortality meeting/child death reviews. Methodology: The perinatal death auditing project was implemented in two districts of Karnataka state. As a part of the pre-intervention survey, awareness and perceptions of doctors and a few health care administrators were explored. They were requested to participate in the study. Those who consented were approached in their hospitals and interviewed. Trained medical social workers conducted the interviews. Awareness was scored from 0 to 3 with 0 being no knowledge and 3 being good knowledge. Perceptions were scored from 0 to 3 with 0 being no negative perceptions and 3 being fear of legal consequences. The responses were documented, scored, and described. Results: Though 22 doctors were eligible, only 16 consented to participate in the study. Knowledge of doctors about different contributors was inadequate. They were apprehensive about legal consequences. They knew that documentation could protect them and be useful in a court of law. They were not clear about the conduct of mortality meeting/existing system of child death reviews. Conclusion: Knowledge was inadequate. They were apprehensive about legal consequences. Training of doctors and allaying apprehensions are required for starting perinatal death auditing

Clinical and genetic spectrum of 104 Indian families with central nervous system white matter abnormalities

Genetic disorders with predominant central nervous system white matter abnormalities (CNS WMAs), also called leukodystrophies, are heterogeneous entities. We ascertained 117 individuals with CNS WMAs from 104 unrelated families. Targeted genetic testing was carried out in 16 families and 13 of them received a diagnosis. Chromosomal microarray (CMA) was performed for three families and one received a diagnosis. Mendeliome sequencing was used for testing 11 families and all received a diagnosis. Whole exome sequencing (WES) was performed in 80 families and was diagnostic in 52 (65%). Singleton WES was diagnostic for 50/75 (66.67%) families. Overall, genetic diagnoses were obtained in 77 families (74.03%). Twenty‐two of 47 distinct disorders observed in this cohort have not been reported in Indian individuals previously. Notably, disorders of nuclear mitochondrial pathology were most frequent (9 disorders in 20 families). Thirty‐seven of 75 (49.33%) disease‐causing variants are novel. To sum up, the present cohort describes the phenotypic and genotypic spectrum of genetic disorders with CNS WMAs in our population. It demonstrates WES, especially singleton WES, as an efficient tool in the diagnosis of these heterogeneous entities. It also highlights possible founder events and recurrent disease‐causing variants in our population and their implications on the testing strategy.Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/170794/1/cge14037.pdfhttp://deepblue.lib.umich.edu/bitstream/2027.42/170794/2/cge14037_am.pd