A5016970606- Metabolism and Genetic Disorders
- Sexual Differentiation and Disorders
- Pancreatic function and diabetes
- Diabetes Management and Research
- Biochemical and Molecular Research
- Bone health and osteoporosis research
- Folate and B Vitamins Research
- Glioma Diagnosis and Treatment
- Lysosomal Storage Disorders Research
- Pituitary Gland Disorders and Treatments
- Diabetes and associated disorders
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Hormonal and reproductive studies
- Meningioma and schwannoma management
- Hyperglycemia and glycemic control in critically ill and hospitalized patients
- Systemic Lupus Erythematosus Research
- Adrenal Hormones and Disorders
- Glycogen Storage Diseases and Myoclonus
- Genomics and Rare Diseases
- Carbohydrate Chemistry and Synthesis
- Vitamin D Research Studies
- Digestive system and related health
- Growth Hormone and Insulin-like Growth Factors
- Genetics and Neurodevelopmental Disorders
- Psoriasis: Treatment and Pathogenesis
Christian Medical College & Hospital
2007-2024
Christian Medical College
2007-2024
Latrobe Regional Hospital
2024
Christie's
2022
Creative Commons
2022
Children's Hospital at Westmead
2015-2016
<title>Abstract</title> <bold>Aim</bold> To characterise the clinical and biochemical parameters of children (0–16 years) who presented with Diabetic Ketoacidosis (DKA) at a regional hospital in Australia.<bold>Methods</bold> A retrospective observational study was conducted following approval Ethics Committee. Data from 2018–2022 were collected medical records, focus on patient treatment follow-up.<bold>Results</bold> total 72 type 1 diabetes (T1D) patients 30 DKA presentations identified....
Aim To characterize current insulin pump settings used in young patients with type 1 diabetes mellitus (T1DM) and to assess their relationship glycemic control. Methods This retrospective study included aged <18 yr old T1DM >1 using a Medtronic device. Pump data including number of blood glucose (BG) tests per day, basal bolus parameters, carbohydrate ratio (CR), sensitivity factors (ISFs) were averaged over 14 d for statistical analyses. Anthropometric recent glycosylated hemoglobin A1c...
The objective of this study was to describe the renal manifestations in children 0-18 years age diagnosed with tuberous sclerosis complex (TSC) at a tertiary hospital South India.Data TSC, who presented Christian Medical College Vellore Hospital from January 2008 2013, were analysed by retrospective chart review. cases identified outpatient records and underwent ultrasonography, urine analysis examination serum creatinine recognize involvement.Twenty-five TSC identified. Two did not have...
We present a 6 year old boy with type I Gaucher treated from 16 months ERT, developing focal Gaucheroma in the liver at 3.5 years.The subject presented 13 of age anaemia, thrombocytopenia and hepatosplenomegaly. disease was confirmed by leucocyte enzyme assay. A homozygous change: c.1193G>A (p.Arg398Gln) GBA gene identified. He had normal neurology saccades. Imiglucerase administered 60 IU/kg/fortnight 15 as per Australian regulations good clinical response. At years hepatic ultrasound...
Abstract Context Wolfram syndrome (WFS) is a rare autosomal recessive disorder characterized by juvenile-onset diabetes, diabetes insipidus, optic atrophy, deafness, and progressive neurodegeneration. However, due to the nature of disease lack complete clinical manifestations, confirmed diagnosis WFS at time onset challenge. Objective With WFS1 heterozygous variants reported in there need for comprehensive genetic screening strategies early delineating phenotypic spectrum associated with...
1. To study the clinical outcome, growth and glycaemic control, 2. frequency type of genetic mutations.This is a retrospective with review data medical records from 2008 till date.Twelve patients (six males) neonatal diabetes mellitus (NDM) were identified. Median (interquartile range - (IQR)) age at diagnosis was 72 (31-95) days history consanguinity in 75%. The median birth weight (range) 2345 (900-3300) g. Follow-up available for eight (IQR) follow-up 3.3 (3-5.3) years. At follow-up, mean...
Congenital Adrenal Hyperplasia (CAH) is an autosomal recessive disorder due to enzyme defects in adrenal steroidogenesis. Several genes code for these enzymes, out of which mutations the CYP21A2 gene resulting 21 hydroxylase deficiency, contribute most common form CAH. However, pseudogene imposed challenges complicate genotyping gene, and there also a lack comprehensive molecular investigations other genetic forms CAH India. Here, we describe cost-effective, highly specific, sensitive Allele...
We report a 7-year-old boy with very severe tetanus treated continuous infusion of magnesium sulphate for the control spasms and autonomic dysfunction which was refractory to deep sedation mechanical ventilation. The not associated any adverse effects he made an uneventful recovery. recommend use intravenous as inexpensive highly effective modality in tetanus.
Congenital hyperinsulinism results in refractory hypoglycemia. If a therapy with diazoxide has been unresponsive this treated by subtotal pancreatectomy the past. This therapeutic option poses an increased risk of developing diabetes at later stage. There have few case reports on use sirolimus such situations recent past.Our patient was started very early, day 29 life and age 14 months is doing well therapy. His growth development good he not had any major complications so far. Genetic...
The authors declare no potential conflict of interest. data that support the findings this study are available on request from corresponding author. not publicly due to privacy or ethical restrictions. FIGURE S1 location mutation in TBXAS1 gene. homozygous missense variant c.1238G>A(NM_001130966.2; p.Arg413Gln) present Exon 15 is shown by a single peak chromatogram proband. Overlapping peaks seen father and mother indicate heterozygous state variant, confirming their carrier status Please...
<b><i>Introduction:</i></b> Gaucher disease (GD) is a rare autosomal recessive lysosomal storage disorder, in which biallelic pathogenic variants the Glucosidase beta acid (<i>GBA</i>) gene result defective functioning of glucosylceramidase that causes deposition glucocerebroside cells. GD has 3 major types namely, non-neuronopathic (type I), acute neuronopathic II), and chronic III). Definite treatment options are limited expensive. They succumb early to...
AimTo characterise current insulin pump settings used in young patients with type 1 diabetes mellitus (T1DM) and their relationship to glycaemic weight control. MethodsThis retrospective study included aged <18 years old T1DM duration >1 year who were using the Medtronic device.Data from pumps including number of blood glucose (BG) tests per day, basal bolus parameters, carbohydrate ratio (CR) sensitivity factors (ISF) averaged over 14 days for statistical analyses.Anthropometric data recent...
Abstract Background: There is only limited data on the association between psoriasis and metabolic comorbidities in South-Asian children. Objective: To examine among children with without psoriasis. Materials Methods: A hospital-based, comparative, cross-sectional study was conducted over 19 months. Anthropometric, clinical, comorbidity details (including disease extent severity scores, obesity, systemic hypertension, diabetes mellitus, lipid abnormalities, syndrome) were obtained both...