Objective To investigate the clinical features,magnetic resonance imaging (MRI),treatment,and follow-up of patients with glutaric aciduria type Ⅰ (GA-1).Methods Four pediatric patients with GA-1 diagnosed in our hospital were included in this study.They were treated with special diets and carnitine supplements.MRI and tandem mass spectrometry (MS/MS) were performed,and the mental development indices were measured.Results GA-1 was confirmed 2 months,13 months,4 months,and 7 months after birth.Seizure had been observed before the disease diagnosis in three patients and disappeared after treatment.In all four patients,T2-weighted brain MRI showed frontotemporal atrophy or hypoplasia and enlarged subarachnoid space in the sylvian fissures and anterior to the temporal lobes.Diffusion weighted imaging revealed high-density lesions over both the putamen and globus pallidus.The patients were followed up for 4 to 5 years.Plasma amino acids and acylcamitine profile were monitored every 3-5 months.The mean C5DC level and C5DC/C8 were kept the higher limits of the normal ranges,especially in case 3.During the follow-up,the body weight was at-2 SD-0 and the height at-1 SD-0.Intellectual development test showed that case 1 and case 4 had mildly abnormal intelligence,whereas case 2 and case 3 had extremely severe intellectual disability.Gene test confirmed the presence of gene mutations in all four cases,including IVS10-2A ＞ C homozygous mutation in cases 1,3,and 4 and [IVS10-2A ＞ C] + [c.245G ＞c(p.Arg82Pro)] hybrid mutation in case 2.Two female children were smoothly enrolled by local kindergarten,while two male children were unable to walk alone due to delayed motor development and spastic paralysis.Conclusions The phenotype of GA-1 patients is not remarkably correlated with its genotype correlation.Newborn screening is essential for identifying GA-1 patients.

OBJECTIVETo understand HIV rival suppression and drug resistance (HIVDR) among AIDS patients who were receiving antiretroviral treatment (ART) in Dehong prefecture, Yunnan province.

METHODSAll AIDS patients who were aged over 15 years and with experience more than six months on ART by the end of 2012 in Dehong prefecture, were enrolled to receive testing for HIV viral load in plasma and genetic mutations associated with HIVDR.

RESULTSA total of 4 390 AIDS patients were qualified for the study according to the selection criteria, of whom 3 964 (90.3%) finally participated in the study. Among them, 2 307(58.2%) had CD₄(+) cell counts more than 350 cells/mm³. 3 169 (79.9%) patients showed undetectable plasma HIV viral load which was lower than the detection threshold. Those who had the following factors as:resided in Ruili city, being female, older than 45 years of age, married, heterosexually infected with HIV, having received ART more than 5 years, and CD₄(+) cell counts >500 cells/mm³, were more likely to have undetectable plasma virus load, with the differences statistically significant. 402 (10.1%) patients had plasma viral load ≥ 1 000 copies/ml, of whom 353 (87.8%) were successfully amplified and examined for HIVDR. Among them, 198 (56.1% ) were identified to bear genetic mutations associated with HIVDR. Most mutations were related to the resistance to nucleotide reverse transcriptase inhibitors (NNRTIs) or non-nucleotide reverse transcriptase inhibitors (NNRTIs), with M184V and K103N most frequently seen. 12 patients (3.4%) were found to have mutations resistant to protease inhibitors (PI). Data from multiple logistic regression analysis indicated that the period of receiving ART and the initial ART regimen could both significantly predict the occurrence of HIV resistance.

CONCLUSIONViral suppression was highly achieved among ART-prescribed AIDS patients in Dehong prefecture,Yunnan province. However, among those who did not show effective viral suppression, the proportion of HIVDR was high, underscoring the needs for health education so as to improve the adherence to drugs as well as for improving testing for viral load and HIVDR among AIDS patients.

Acquired Immunodeficiency Syndrome ; drug therapy ; Adolescent ; Adult ; Anti-HIV Agents ; therapeutic use ; Drug Resistance, Viral ; genetics ; Female ; Follow-Up Studies ; Humans ; Male ; Middle Aged ; Mutation ; Viral Load ; drug effects ; Young Adult