Clinical and genetic analysis of a newborn with hypoparathyroidism, sensorineural hearing loss, and renal dysplasia syndrome / 中华医学遗传学杂志

OBJECTIVE@#To analyze the clinical phenotype and genetic basis for a male neonate featuring hypoparathyroidism, sensorineural hearing loss, and renal dysplasia (HDR) syndrome.@*METHODS@#The child was subjected to genome-wide copy number variation (CNVs) analysis and whole exome sequencing (WES). Clinical data of the patient was analyzed. A literature review was also carried out.@*RESULTS@#The patient, a male neonate, had presented with peculiar facial appearance, simian crease and sacrococcygeal mass. Blood test revealed hypocalcemia, hypoparathyroidism. Hearing test suggested bilateral sensorineural deafness. Doppler ultrasound showed absence of right kidney. Copy number variation sequencing revealed a 12.71 Mb deletion at 10p15.3-p13 (chr10: 105 001_12 815 001) region. WES confirmed haploinsufficiency of the GATA3 gene. With supplement of calcium and vitamin D, the condition of the child has improved.@*CONCLUSION@#The deletion of 10p15.3p13 probably underlay the HDR syndrome in this patient.

Risk factors influencing short - term prognosis of acute central nervous system viral infection in children / 中华实用儿科临床杂志

Objective To study the risk factors for children with acute central nervous system(CNS)viral in-fection,so that pediatrician may identify children with poor prognosis at early stages of the disease,and provide them with a theoretical basis for clinical treatment. Methods The clinical data of a cohort patients of acute CNS viral infec-tion who were hospitalized at the First Affiliated Hospital of Fujian Medical University between January 2010 and June 2013 were retrospectively collected and analyzed. According to Glasgow outcome scale on discharge,children were di-vided into good prognosis group and poor prognosis group. Clinical data and outcomes were analyzed by using univariate analysis and binary Logistic regression multivariate analysis. Results Three hundred and one cases were enrolled,278 (92. 36% )patients were assigned to the good prognosis group,and 23(7. 64% )patients were assigned to the poor prognosis group. By univariate analysis,the patients in the poor prognosis group had longer duration of sickness before admission,longer time of fever,lower white blood cell count in cerebrospinal fluid,a relatively lower calcium level,con-scious disturbance at the early stage,multiple seizures,convulsive status epilepticus,meningeal irritation sign,muscle weakness,severe changes in electroencephalogram(EEG),and abnormal neuroimaging findings(computed tomography or magnetic resonance imaging,or both)had significant differences between the good prognosis group and the poor short - term outcome groups(all P < 0. 05). By binary Logistic regression multivariate analysis,factors indicating a poor prognosis during the early stage were conscious disturbance at the early stage(0R = 4. 885,95% CI:1. 523 - 15. 670, P = 0. 008),multiple seizures(0R = 6. 352,95% CI:1. 905 - 21. 178,P = 0. 003),severe changes in EEG( 0R =4. 269,95% CI:1. 708 - 10. 666,P = 0. 002),and abnormal neuroimaging findings( 0R = 9. 740,95% CI:2. 360 -40. 192,P = 0. 002). Conclusions Conscious disturbance at the early stage,multiple seizures,severe changes in EEG and abnormal neuroimaging findings are risk factors for acute viral infection of CNS in children.

The impact of antepartum interruption of intrauterine infection on the mutations of precore and core promoter regions of hepatitis B virus / 中华传染病杂志

Objective To investigate the impact of injecting hepatitis B immune globulin(HBIG)at third trimester of pregnancy on the nucleotide sequences of precore and basal core promoter(BCP)regions of hepatitis B virus(HBV)DNA.Methods One hundred and twenty pregnant women(67 in HBIG group and 53 in no-HBIG group)were enrolled in this study.Serum HBV DNA level was determined using quantitative real-time polymerase chain reaction(RT-PCR).Relevant serum markers (HBeAg,HBsAg)of HBV were detected by enzyme-linked immunosorbent assay(ELISA).Nucleotide fragments of HBV precore and BCP regions were amplified by nested PCR and then sequenced by automated DNA sequencer.Data were analyzed using t test and chi-square test.Results Sera of 33 women in HBIG group were collected before interruption with HBIG and at delivery.Precore and BCP regions of HBV DNA were amplified and sequenced successfully from double sera of 23 among 33 women. The rates of total nucleotide substitute in precore and BCP regions, that in precore region, and that in BCP region before and after interruption were 1.5% and 1.4%, 0.7% and 0.6%, 1.7% and 1.7%, respectively (Fisher's exact test, X2 =0.627, 0.689, 1.000, respectively,all P＞0.05). The rates of total mutations of hot points including 1896G→A,1899G→A,1762A→T,1764G→A before and after interruption were 27.2% and 13.0%, respectively (x2=5.717, P=0. 017). But the prevalences of these hot points mutations before and after interruption were 30.4%and 17.4%, 17.40/00 and 4.3%, 26.1% and 13.0%, 34.80/00 and 17.4%, respectively, which were all not significantly different (P＞0.05). The rates of nucleotide substitute in precore and BCP regions,that in precore region, and that in BCP region of 53 women in HBIG group and 47 women in no-HBIG group at delivery were 0.9% and 0.8%, 0.3% and 0.3%, 1.1% and 0.9%, respectively (Fisher's exact test, )x2=0.434, 0.839, 0.340, respectively, all P＞0. 05). The rates of total mutations of hot points of women in HBIG group and those in no-HBIG group at delivery were 5.7% and 10.1%,respectively, which was not significantly different (P＞0.05). These hot points mutations including 1896G→A,1899G→A,1762A→T, 1764G→A of women in HBIG group and those in no-HBIG group at delivery were 9.4% and 14.9%, 0 and 2. 1%, 7.5%0 and 10.6%, 5.7% and 12.8%, respectively,which were all not significantly different ( P＞0.05). Conclusions Antepartum interruption of HBV intrauterine infection with HBIG may not raise the nucleotide mutations in precore and BCP regions of HBV DNA. On the other hand, antepartum interruption may decrease mutations of hot points in the precore and BCP regions of HBV DNA.

Phapmacological and Clinical Actions of Tetrodotoxin / 中国海洋药物

This report indroduces the characterization of tetrodotoxin (TTX),and its pharmacological and clinical actions.