ABSTRACT
Neurodevelopmental disorders (NDDs) in children are a group of chronic developmental brain disorders caused by multiple genetic or acquired causes, including disorders of intellectual development, developmental speech or language disorders, autism spectrum disorders, developmental learning disorders, attention deficit hyperactivity disorder, tic disorders, and other neurodevelopmental disorders. With the improvement in the research level and the diagnosis and treatment techniques of NDDs, great progress has been made in the research on NDDs in children. This article reviews the research advances in NDDs, in order to further improve the breadth and depth of the understanding of NDDs in children among pediatricians.
Subject(s)
Humans , Child , Neurodevelopmental Disorders/therapy , Autism Spectrum Disorder/therapy , Attention Deficit Disorder with HyperactivityABSTRACT
OBJECTIVE@#To investigate the distribution of Chinese medicine (CM) syndrome in patients with acute myocardial infarction (AMI) on admission and its impact on prognosis.@*METHODS@#A total of 525 AMI patients were prospectively recruited and classifified into 4 groups based on their clinical characteristics: excess-heat, excess-cold, deficiency-heat and deficiency-cold syndromes. Major adverse cardiovascular events (MACEs) were followed up.@*RESULTS@#The excess syndrome was more common than deficiency syndrome (72.95% vs. 27.05%; P<0.05). Totally 495 (94.29%) of 525 AMI patients were followed up (median 277 days). There were 59 (11.92%) MACEs. After adjusted with confounding factors in Cox regression models, the hazard ratio (95% confifidence interval) of excess-heat, excess-cold, defificiency-heat and defificiency-cold syndrome groups were 1, 1.25 (0.63, 2.49; P<0.05), 2.37 (1.14, 4.94; P<0.05), 3.76 (1.71, 8.28; P<0.05), respectively.@*CONCLUSIONS@#Excess syndrome was more common in AMI patients and had better prognosis, while defificiency-cold syndrome had the poorest prognosis. CM syndrome was of value in predicting long-term outcomes in AMI patients.
ABSTRACT
Methylacetoacetyl-CoA thiolase deficiency (T2 deficiency) is a rare congenital and metabolic disease affecting the ketone body and isoleucine metabolism. The typical symptoms are refractory metabolic acidosis, in which large amounts of 2-methyl-3-hydroxybutyry1 carnitine, 2-methyl-3-hydroxybutyrate and tiglylglycine are often detected in the blood and urine. We herein describe an atypical case of T2 deficiency with a high level of 3-hydroxybutyrate and a low level of 2-methyl-3-hydroxybutyrate in the urine. Such a case was diagnosed by urinary organic analysis in combination with gene mutation evaluation. Organic acids in the urine were measured using a gas chromatography mass spectrometer and all exons were sequenced via deep sequencing. Molecular biology analysis confirmed the presence of a homozygous mutation in the acetyl-CoA acetyltransferase 1 (ACAT1) gene. The patient received a special diet of deeply hydrolyzed protein milk powder and raw corn starch. She was followed about 6 months. There were no ketoacidotic episodes and hypoglycemia even when she had fever. In conclusion, patients with atypical features of T2 deficiency should also be investigated early. Gas chromatography mass spectrometry and next-generation full exome sequencing may be helpful in diagnosis.
ABSTRACT
<p><b>OBJECTIVE</b>To explore the effects of hypoxia on the proliferation of human leukemia HL-60 cells and the cellular expression of hypoxia inducible factor-1α (HIF-1α).</p><p><b>METHODS</b>Human acute myeloid leukemia HL-60 cells with exponential growth in routine culture were exposed to 50, 200, 400, 800 µmol/L CoCl(2) to mimic hypoxic conditions. At 24, 48, and 72 h, the cells were collected for morphological observation, MTT assay, and real-time quantitative PCR for HIF-1α mRNA expression.</p><p><b>RESULTS</b>Compared with the cells without CoCl(2) treatment, the cells with CoCl(2) exposure exhibited obvious morphological changes and a significant growth inhibition which increased with CoCl(2)concentration and exposure time. At low concentrations (50-200 µmol/L), CoCl(2) treatment caused a dose- and time-dependent enhancement of HIF-1α expression in HL-60 cells.</p><p><b>CONCLUSION</b>Hypoxia mimicked by CoCl(2) exposure significantly inhibits the proliferation of HL-60 cells, and at the non-toxic doses, CoCl(2) dose- and time-dependently increases the expression of HIF-1α. The mimicked hypoxic conditions do not cause differentiation of HL-60 cells.</p>