A case of glutathione synthetase deficiency due to compound heterozygous variant of glutathione synthase gene / 中华神经科杂志

The clinical data and gene variant characteristics of a patient with glutathione synthetase (GSS) deficiency were summarized. The child was born 15 min prematurely as a male infant with postnatal respiratory distress, metabolic acidosis, severe anemia, hemolysis, hyperbilirubinemia, and motor developmental backwardness. Blood and urine genetic metabolic screening showed a blood glutamate value of 1 343.1 μmol/L and a urine 5-oxoproline value of 1 873.7 nmol/mg creatinine. Cranial magnetic resonance imaging showed nonspecific subarachnoid widening. Whole-exon gene sequencing of the family line suggested that the GSS gene of the preexisting patient originated from paternal and maternal variants, respectively: c.632_633del (p.Gln211Argfs *8), and c.491G>A (p.Arg164Gln). Complex heterozygous variants of the GSS gene were the genetic etiology of the present case.

Clinical characteristics of neonatal severe purulent meningitis / 中国小儿急救医学

Objective:To investigate the clinical characteristics of severe purulent meningitis in neonates.Methods:A retrospective study was conducted.One hundred and sixty-nine newborns with purulent meningitis diagnosed at the neonatal center of our hospital from January 2014 to December 2017 were selected.According to the severity of the disease, the cases were divided into severe group and mild group.The clinical data of all children were collected and analyzed, and the characteristics of severe purulent meningitis were summarized.Results:Among 169 cases of neonatal purulent meningitis, 43 cases(25.4%)were in severe group, and 126 cases(74.6%)were in mild group.Twenty-one cases were cured in severe group, 10 cases had complications, 9 cases abandoned and 3 cases died.Ninty-eight cases were cured in the mild group, 17 cases had complications and 11 cases were discharged automatically and 2 cases died.There were significant differences in respiratory failure requiring mechanical ventilation, convulsion, consciousness disorder, blood C-reactive protein, positive cerebrospinal fluid culture, severe abnormality of amplitude integrated electroencephalogram, cerebrospinal fluid/serum glucose ratio, the incidence rate of complications and mortality between two groups( P<0.05). Conclusion:Severe purulent meningitis not only has the manifestation of mild meningitis, but also often has the clinical characteristics of brain parenchymal damage and/or brain failure with more complications and higher mortality.

Clinical characteristics and molecular genetics of seven neonates with congenital nephrogenic diabetes insipidus / 中华医学遗传学杂志

OBJECTIVE@#To explore the clinical characteristics, genetic basis and clinical treatment of seven neonates with congenital nephrogenic diabetes insipidus (NDI).@*METHODS@#Clinical data of the patients were collected. High-throughput sequencing was carried out to detect potential variants. Sanger sequencing was used to verify the results.@*RESULTS@#The patients were all males, with the age of onset being 10 to 21 days. All patients were admitted to the hospital for intermittent fever as the first symptom during the neonatal period. Additional symptoms had included polydipsia and polyuria. After the treatment, 5 patients had recovered, the remainders still had NDI symptoms and developmental retardation. Five children were found to harbor pathogenic variants of the AVPR2/AQP2 gene, which included one in-frame mutation of c.645_646insGCACCTACCCTGGGTATCGCC, two missense mutations of c.541C>T and c.419C>A, and two hemizygous deletions of the AVPR2/AQP2 gene. Among these, two were unreported previously. Cases 6 and 7 were a pair of twins. Both had carried homozygous missense variants of c.538G>A of the AVPR2/AQP2 gene, which was known to be pathogenic.@*CONCLUSION@#AVPR2/AQP2 is the main pathogenic gene for congenital NDI, for which two novel pathogenic variants have been discovered in this study. Above results have provided a basis for clinical diagnosis and genetic counseling for the affected pedigrees.

Neonatal inflammatory bowel disease: a report of 2 cases with literature review / 临床儿科杂志

Objective To investigate the clinical characteristics of neonatal inflammatory bowel disease (IBD). Methods The clinical data of two neonates diagnosed with IBD. Clinical manifestation, laboratory examination, imaging, endoscopy and histopathological findings, treatment plan and prognosis were included. Results The clinical manifestations were fever, diarrhea, oral ulcer in two cases of neonatal IBD in this study. Laboratory findings showed inflammatory indicators (such as white blood cells, C-reactive protein) increased mainly accompanied by decreased hemoglobin, platelet, plasma albumin and other indicators. Endoscopic and pathological manifestations were significantly different in ulcerative colitis (UC) and Crohn disease (CD) children. The lesions range of UC patients were mainly sigmoid colon, and CD patients ileocecal. Conclusions For neonates with highly suspected IBD, positive endoscopy and gene detection are recommended. Early diagnosis and standard treatment are important. For children with refractory IBD with IL-10 and IL-10 receptor gene mutations, hematopoietic stem cell transplantation is feasible and could improve its prognosis.

Application of amplitude-integrated electroencephalography in term neonates with brain injury / 中国小儿急救医学

Objective To explore the value of amplitude-integrated electroencephalography(aEEG) in diagnosis and prognosis in term newborns with brain injury.Methods One hundred and thirty consecutive patients with brain injury admitted in NICU were prospectively enrolled in the study from Nov 2013to Apr 2015.The monitoring of aEEG was done at 1d,4d,7d,respectively.Clinical data were collected and com-pared with the result of aEEG.Results All the cases of newborns with abnormal aEEG background:discon-tinuous voltage(109cases),continuous low voltage(12cases),flat(4cases).The epileptic activity were re-corded in 33cases,and 15cases showed burst-suppression;sleep wake cycle:mature(32cases),immature (54cases),no sleep wake cycle(39cases).The judgment of abnormal level:70cases had mildly abnormal aEEG,severe abnormalities 60cases,and no significant difference in different types of diseases(x2=6.176, P=0.19).Recent prognosis:the death of mild and severe abnormalities were 1case,12cases,respectively, there were significant differences(x2=12.76,P﹤0.001).Developmental quotient(DQ)of these newborns were followed up for more than 6months,and there were significant differences in mild,severe abnormal aEEG in them with DQ≥85and DQ﹤85(x2=33.195,P﹤0.001).The sensitivity of aEEG in severe abnor-mal aEEG was 68.75%,the specificity was 78.68%,and the positive and negative predictive values of aEEG were 77.19%and 70.58%,respectively.The results of aEEG classification and sleep wake cycle were corre-lated with the prognosis of the patients(r=0.505,0.507,respectively,P﹤0.001).Conclusion aEEG can be used to monitor brain function,and it is helpful to evaluation of early diagnosis and prognosis.