A5001711690- Biotin and Related Studies
- Click Chemistry and Applications
- Epilepsy research and treatment
- Genetics and Neurodevelopmental Disorders
- Obsessive-Compulsive Spectrum Disorders
- Genetic Mapping and Diversity in Plants and Animals
- Glycogen Storage Diseases and Myoclonus
- Genetic Associations and Epidemiology
- Genomics and Rare Diseases
- Advanced biosensing and bioanalysis techniques
- Epigenetics and DNA Methylation
- Congenital limb and hand anomalies
- Eating Disorders and Behaviors
- Congenital heart defects research
- Clinical Reasoning and Diagnostic Skills
- Alcohol Consumption and Health Effects
- Vitamin D Research Studies
- Genomic variations and chromosomal abnormalities
- Renin-Angiotensin System Studies
- Genetic Syndromes and Imprinting
- Lipid metabolism and biosynthesis
- Cognitive Abilities and Testing
- Wheat and Barley Genetics and Pathology
- Smoking Behavior and Cessation
- Healthcare professionals’ stress and burnout
Tulane University
1996-2016
Tulane Medical Center
1999-2002
University Medical Center New Orleans
1993-1999
University Medical Center
1996
University Hospital and Clinics
1996
Louisiana State University
1993-1994
Virginia Commonwealth University Medical Center
1985-1991
University of California, Los Angeles
1988-1991
West Los Angeles College
1990
Northwestern University
1986
Abstract Biotinidase deficiency is the primary defect in most individuals with late‐onset multiple carboxylase deficiency. We have reviewed presenting clinical features of 31 children disorder. Seizures, either alone or other neurological cutaneous findings, are frequent initial symptom observed. Other symptoms, such as hypotonia, ataxia, hearing loss, optic atrophy, and developmental delay, seen, addition to skin rash alopecia. The disorder also characterized by ketolactic acidosis organic...
Abstract Juvenile myoclonic epilepsy (JME) is a generalized, non‐progressive characterized by an adolescent onset of sudden, involuntary jerks. Greenberg et al. ( American Journal Medical Genetics 31:185–192, 1988b; Cytogenetics and Cell 51:1008, 1989b) reported tight linkage JME locus to the HLA region chromosome 6p. We confirm this assignment, although at larger recombination fraction than previously reported. Twenty‐three, mostly nuclear, families were ascertained through proband. The...
Four children with biotinidase deficiency were identified during the first year of a neonatal screening program for this disease in Commonwealth Virginia. Two unrelated probands among 81,243 newborn infants who screened. In addition, two siblings one these found to be affected. Both had mild neurologic symptoms at and four months, respectively, older more severe abnormalities, cutaneous findings, developmental delay three years age. However, none affected acute metabolic decompensation....
Abstract Using the Collaborative Study on Genetics of Alcoholism (COGA) data, we performed a sib‐pair linkage analysis two smoking‐related traits and one alcoholism phenotype. The first trait, EVRNVR, was dichotomous constructed based epidemiological definitions smoking. second PKYRS, used quantitative pack‐year history provided, third trait COGA classification, ALDX1. There some evidence for EVRNVR to regions chromosomes 6, 9, 14. Smaller numbers loci provided nominal although candidate...
Hypermethylation at certain CpG-rich promoters and hypomethylation repeated DNA sequences are very frequently found in cancers. We provide the first report that a sequence (NBL2) can be either extensively hypermethylated or hypomethylated cancer. Previously, it was shown NBL2, complex tandem repeat acrocentric chromosomes, is NotI sites >70% of neuroblastomas hepatocellular carcinomas cells from ICF syndrome (DNMT3B-deficiency) patients. Unexpectedly, by Southern blot analysis 18 ovarian...
Untreated cultures from normal chorionic villus (CV) or amniotic fluid-derived (AF) samples displayed dramatic cell passage-dependent increases in aberrations the juxtacentromeric heterochromatin of chromosomes 1 16 (1qh 16qh). They showed negligible levels chromosomal primary culture and no other consistent abnormality at any passage. By passage 8 9, 82 ± 7% CV metaphases all eight studied exhibited 1qh 16qh decondensation 25 16% had rearrangements these regions. All six analyzed...
Townsend, Mark H. M.D.; Weissbecker, Karen A. Ph.D.; Barbee, James G. Peña, José M. Snider, Leslie Tynes, L. Lee M.D., Susan F. Boudoin, Connie M.S.; Green-Leibovitz, Matthew I. B.A.; Winstead, Daniel K. M.D. Author Information
To the Editor.— We report a case of sudden death in patient with presumed biotinidase deficiency and emphasize importance suspecting this diagnosis patients who present compatible clinical findings. A nonconsanguineous couple was seen for genetic counseling following their first child, boy, at 23 months age. review history revealed that child normal until 5½ age when seizures developed which were eventually controlled carbamazepine.
Linkage analyses of simulated quantitative trait data were performed using the Haseman-Elston (H-E) sib pair regression test to investigate effects inaccurate allele frequency estimates on type I error rates this test. Computer simulations generating a in nuclear families GASP [<citeref rid="ref001">1</citeref>]. Assuming no linkage, several sets simulated; they differed marker numbers and frequencies, number pairs sibships. Each set was analyzed (1) all parental data, (2) half...
AbstractVery promising results have been obtained in clinical trials on chronic-phase chronic myeloid leukemia (CP-CML) patients treated with imatinib mesylate (IM; Gleevec®, STI571), a BCR-ABL tyrosine kinase inhibitor. However, we found that IM caused considerable inhibition of normal hematopoietic progenitor cells upon treating control bone marrow (BM) cultures. In vitro treatment gave decrease the yield and size colonies from BM untreated CP-CML was only two to three times samples....
In this automated procedure for quantifying biotinidase activity in human serum, a manual colorimetric method that measures conversion of the enzyme's artificial substrate N-biotinyl p-aminobenzoate was modified use with Technicon AutoAnalyzer II. The intra-run replicate precision (CV) 2.1% and day-to-day CV 4.6% quality-control sera. Results were linearly related to serum over complete range clinically relevant values, 0.2 11.0 U/L. Moreover, results assay not significantly different from...
Abstract Hypertension, a major risk factor for cardiovascular diseases, is thought to be inherited some extent. However, the nature of its genetic component remains unresolved. In present study, data from single large kindred (the HGAR1 pedigree) were used search evidence gene and multifactorial effects on diastolic blood pressure. Commingling analyses found that mixture three distributions fit significantly better than normal distribution, suggesting effect influencing pressure levels....
Using the Genetic Analysis Workshop 13 simulated data set, we compared technique of importance sampling to several other methods designed adjust p-values for multiple testing: Bonferroni correction, method proposed by Feingold et al., and naïve Monte Carlo simulation. We performed affected sib-pair linkage analysis each 100 replicates five binary traits adjusted derived using correction methods. The type I error rates ability detect loci known influence trait values were compared. All...
The ulnar-mammary syndrome (MIM 181450) includes postaxial ray defects, abnormalities of growth, delayed sexual development, and mammary apocrine gland hypoplasia. Brachydactyly type E 113300) presents with shortening the metacarpals phalanges in ulnar association moderately short stature. We describe a three-generation family variable expression ulnar/fibular hypoplasia, brachydactyly, defects proband had hypoplasia missing IV-Vth fingers, fibular on right, bilateral club feet, growth...