A5062032260- Metabolism and Genetic Disorders
- Mitochondrial Function and Pathology
- Folate and B Vitamins Research
- Genomic variations and chromosomal abnormalities
- Congenital heart defects research
- Genomics and Rare Diseases
- RNA modifications and cancer
- Genetics and Neurodevelopmental Disorders
- Genetic factors in colorectal cancer
- Amino Acid Enzymes and Metabolism
- Cellular transport and secretion
- Chromosomal and Genetic Variations
- Tracheal and airway disorders
- Biochemical Acid Research Studies
- Prenatal Substance Exposure Effects
- Lysosomal Storage Disorders Research
- Neonatal Health and Biochemistry
- Porphyrin Metabolism and Disorders
- ATP Synthase and ATPases Research
- Fetal and Pediatric Neurological Disorders
- Cancer, Hypoxia, and Metabolism
- Biochemical and Molecular Research
- Connective tissue disorders research
- Diet and metabolism studies
- Vascular Anomalies and Treatments
Christian Medical College
2023
Western University
2005-2020
Children’s Health Research Institute
2008-2020
London Health Sciences Centre
2006-2020
Western University of Health Sciences
2013
Children's Hospital of Western Ontario
2008-2009
University of Ruhuna
2009
Case Western Reserve University
2006
Rainbow Babies & Children's Hospital
2006
Health Sciences Centre
2000-2002
The regions near telomeres of human chromosomes are gene rich. Chromosome subtelomere rearrangements occur with a frequency 7–10% in children mild‐to‐moderate mental retardation (MR) and approximately 50% cases familial. Clinical investigation is now prompted by fluorescence situ hybridization (FISH) analysis using specific DNA probes from all relevant chromosome ends. In our study, 40 were selected for assay either the Chromophore Multiprobe‐T Cytocell device or VYSIS TelVision probes....
Limb anomalies are not common in the DiGeorge or CHARGE syndromes. We describe limb two children, one with and other syndrome. Our first patient had a bifid left thumb, Tetralogy of Fallot, absent thymus, right facial palsy, reduced number T-cells. A deletion 22q11 was detected by fluorescence situ hybridization (FISH). The second patient, syndrome, asymmetric findings that included fifth finger clinodactyly, camptodactyly, tibial hemimelia dimpling, severe club-foot. expanded spectrum...
Background: the maternally inherited MTTL1 A3243G mutation in mitochondrial genome causes MelaS (Mitochondrial encephalopathy lactic acidosis with Stroke-like episodes), a condition that is multisystemic but affects primarily nervous system. Significant intra-familial variation phenotype and severity of disease well recognized. Methods: retrospective ongoing study an extended family carrying multiple symptomatic individuals. tissue heteroplasmy reviewed based on clinical presentations,...
m.3291T > C mutation in the MT-TL1 gene has been infrequently encountered association with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS), however remains poorly characterized from a clinical perspective. In following report we describe detail phenotypic features, long term follow up (> 7 years) management Caucasian family MELAS due to review literature on mutation. The phenotype proposita included overlapping features of MELAS, MERRF (Myoclonic...
Clinical disorders have intrigued the human mind for thousands of years. Many are enshrined in history as ‘medical curiosities’. This report is a tribute to one greatest minds modern genetics and medicine, Sir Archibald Edward Garrod (1857–1936), who brought forward scientific study inborn errors metabolism. Garrod's concept ‘chemical individuality’ with no awareness ‘genes’ more than 100 years ago an amazing example futuristic thinking. His own words reflect this, ‘Owing, I believe, their...
The diagnosis of fetal alcohol syndrome has been possible, with increasing precision, since the original descriptions in 1970s. Multidisciplinary diagnostic approaches have recognized as most appropriate, although they are often not available. Telemedicine used Canada over same time period for a variety diagnositc applications. Since 1999, funding by Manitoba government allowed consolidation services children prenatal exposure Manitoba, and development format using telemedicine. This paper...
The Galle Medical Journal is published by the Association. journal quarterly in March, June, September and December each year. submissions are accepted throughout aims of to foster co-operation among medical fraternity be a forum make literary contributions, share experiences encountered practice, update their knowledge have debates on topics related all aspects medicine.
We report an 8-year-old girl with coarse facial features, macrocrania and developmental delay. Cranial anomalies in the form of hydrocephalus Dandy-Walker (DW) variant malformation were detected on neuro-imaging. Karyotyping revealed a de novo interstitial deletion bands 3q25.1 to 3q25.33. Deletion 3q24-q26 region appears be associated somewhat similar constellation findings craniofacial dysmorphism (broad depressed nasal bridge low set posteriorly rotated ears), mental retardation,...
Intrinsic factor deficiency (OMIM #261000, IFD) is a rare inherited disorder of vitamin B12 metabolism due to mutations in the gastric intrinsic (GIF) gene.We report three individuals from an Old Order Mennonite community who presented with deficiency. Two cases are siblings born consanguineous parents and third case not known be closely related. The older male sib at 4 years gastrointestinal symptoms, listlessness, pallor. He had pancytopenia megaloblastic anemia. Serum was 61 (198-615...
We report on a female who presents with an atrial septal defect (ASD), mild hypotelorism, prominent nasal bridge, long smooth philtrum, developmental delay and ade novointerstitial deletion of the short arm chromosome 2p, del (2)(p16.2p21). This is first in 2 involving those particular breakpoints. propose that this may represent new recognizable chromosomal phenotype.Clin Dysmorphol12:183-185 © 2003 Lippincott Williams & Wilkins.