One patient with perinatal hypophosphatasia due to mutations in the tissue-nonspecific alkaline phosphatase gene / 中华内分泌代谢杂志

Objective:To explore the clinical and genetic characteristics of a Chinese baby with perinatal hypophosphatasia (HPP) and his parents for better understanding of the disease.Methods:The clinical data of the patient with HPP was carefully collected. The laboratory and radiographic examination data were taken for this baby patient. Sequencing for all the twelve tissue-nonspecific alkaline phosphatase(ALPL) exons and the flanking exon-intron junctions were performed in the proband and his parents with their genomic DNA from peripheral blood.Results:The blood level of alkaline phosphatase was decreased in this patient while serum calcium level was increased. His bone revealed chondrodysplasia-like change. Compound heterozygous mutations were found in the proband, with c. 346G>A(p.A116T) in exon 5 and c. 1171C>T(p.R391C) in exon 10. His father and mother were without clinical manifestation while respectively carried c. 346G>A(p.A116T and c. 1171C>T(p.R391C) missense mutations, suggesting an autosomal recessive inheritance in this family.Conclusion:Perinatal HPP has a high mortality rate. Skeletal deformities, hypercalcemia, and low level of ALP are important in the differential diagnosis of perinatal HPP.

Neonatal presentation of familial glucocorticoid deficiency with a MRAP mutation: one case report / 中华内分泌代谢杂志

The clinical manifestation, laboratory findings, and imaging examination of a baby with familial glucocorticoid deficiency were summarized. The patient presented achypnea, cyanosis, and pigmentation of the whole body skin, no convulsion and hypoglycemia found. Laboratory findings revealed low blood cortisol and high blood ACTH levels. A 1-bp homozygous deletion(c.106+ 1delG) in intron 3 of melanocortin 2 receptor accessory protein(MRAP) gene in the patient was found. His parents were found to be heterozygous carrier for the same mutation, without any clinical manifestation.

Analysis of AVPR2 variant in a neonate with congenital nephrogenic diabetes insipidus / 中华医学遗传学杂志

OBJECTIVE@#To detect potential variant in a male neonate affected with congenital nephrogenic diabetes insipidus (CNDI).@*METHODS@#Clinical data of the patient was collected. Genomic DNA was extracted from peripheral blood samples from the child and his parents. The whole coding regions of the arginine vasopressin V2 receptor (AVPR2) gene were amplified by PCR and subjected to Sanger sequencing.@*RESULTS@#The patient presented recurrent fever and polyuria after birth. Multiple blood gas analyses indicated hypernatremia. Ultrasound showed bilateral hydronephrosis and hydroureter. The patient was partially responsive to hydrochlorothiazide. DNA analysis identified a hemizygous frameshift variant c.890-899delACCCGGAGGC in exon 2 of the AVPR2 gene in the proband. His mother was heterozygous for the same variant.@*CONCLUSION@#The c.890-899delACCCGGAGGC variant of the AVPR2 gene probably underlies the CNDI in the child. Above discovery has enriched to spectrum of CNDI associated variants.

Observation on growth status of Blastocystis hominis in three media / 中国血吸虫病防治杂志

Objective To observe the growth situation of Blastocystis hominis in vitro and select the optimal method for culti?vation of B. hominis in different media. Methods Ten positive stools with B. hominis were inoculated in three different media for cultivating,namely 1640,Jone’s medium and vitro medium. And the stools with good growth status and high quantities of B. hominis were chosen to inoculate in the three media with equal amount after subcultivation,and the number of B. hominis was counted every 24 h for ten days,and the morphological changes and growth status were also observed. Results The densities of B. hominis in the 1640 and Jone’s medium were higher than that in the vitro medium 48 h after the inoculation. The same stool sample was inoculated to the three different media and observed for ten days,and the results indicated that the growth of B. homi?nis presented regular changes in the three media,the growth peaks were on the third,sixth and ninth day post inoculation;and the density of B. hominis was the highest in the Jone’s medium. The morphology of B. hominis was the clearest and most dynamic in the vitro medium,while various reproductive forms were observed in the Jone’s medium. Conclusion Jone’s medium is suitable for the growth of B. hominis and can be the first choice for the cultivation of B. hominis in vitro,and vitro medium is the best medium for observing the growth situation of B. hominis.

Domestic vs imported vecuronium bromide on effects of muscular relaxation / 中国新药与临床杂志

AIM: To compare domestic and imported vecuronium bromide on the effects of muscular relaxation and cardiovascular system.　METHODS: Thirty patients undergoing elective surgery were divided into domestic one group and exotic one group. The onset time, T1 recovery to 10% of control, clinical duration, T1 recovery to 75% of control and recovery index of each group were measured by train-of-four stimulation and recorded. The changes of arterial pressure and heart rate of each group were recorded before induction, before intubation, intubation, and 1,2,5 min after intubation.　RESULTS: The changes of arterial pressure and heart rate were not obvious diffecance between two groups. The effect of muscular relaxation did not differ after administration either.　CONCLUSION: The significant different changes between domestic and imported vecuronium bromide are not noticed. Both on the effects of muscular relaxation and cardiovascular system are similar.