Very-long chain acyl coenzyme A dehydrogenase deficiency / 中国实用儿科杂志

Very long chain acyl-CoA dehydrogenase deficiency(VLCADD)is a disorder involving the initial step of fatty acid beta-oxidation in the mitochondrial matrix. VLCADD can present at various ages,from the neonatal period to adulthood,with symptoms including hypoglycemia,rhabdomyolysis,skeletal muscle weakness and cardiomyopathy,and poses the greatest risk of complications during intercurrent illness or after prolonged fasting. Early diagnosis,treatment,and surveillance can reduce mortality. The most common diagnostic evaluation methods are plasma acylcarnitine profiles and ACADVL gene molecular testing. Functional testing,including white blood cell or fibroblast enzyme assay,is a useful diagnostic adjunct if molecular sequencing alone is insufficient to deter-mine the diagnosis or uncharacterized mutations are identified. Treatment emphasizes the avoidance of fasting and often includes a specialized diet that is high carbohydrate/low longchain fat which is supplemented by medium chain triglycerides(MCT).very-long chain acyl coenzyme A dehydrogenase

Chromosomal microarray analysis of 2000 pediatric cases / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To assess the feasibility of chromosomal microarray analysis(CMA) for studying the correlation between birth defects and chromosomal aberrations.</p><p><b>METHODS</b>A total of 2000 patients with birth defects were recruited for the CMA testing.</p><p><b>RESULTS</b>Five hundred twenty two patients (26.1%) were found to have chromosomal abnormalities. These included 24 cases with numerical abnormalities, 11 with mosaicisms, and 11 with uniparental disomies. The remaining 476 cases were of well-known microdeletion or microduplication syndromes. The advantage of CMA over conventional karyotyping was demonstrated in many cases.</p><p><b>CONCLUSION</b>As a powerful tool for patients with birth defects, CMA can produce a higher diagnostic yield compared with conventional karyotyping.</p>

Application of chromosomal microarray analysis for a cohort of Chinese patients with spontaneous miscarriage / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To explore the relationship between spontaneous miscarriage and chromosomal aberrations identifiable with chromosomal microarray analysis (CMA).</p><p><b>METHODS</b>A total of 440 product-of-conceptions were collected for the CMA testing.</p><p><b>RESULTS</b>Four hundred and seventeen of 440 specimens (94.7%) were successfully detected, among which 209 (50.1%) were chromosomal abnormalities. One hundred and twenty-nine (61.7%) of the 209 specimens were numerical chromosomal abnormalities, 40 specimens (19.1%) were structural anomalies, 38 specimens (18.1%) were mosaicisms, and 2 specimens (1.0%) showed regions of homozygosity.</p><p><b>CONCLUSION</b>CMA analysis of products of-conception specimens can yield a higher diagnostic rate than conventional karyotyping. The identification of the cause of spontaneous miscarriage can facilitate estimation of recurrence risks for future pregnancies.</p>