Phenotypic and genetic analysis of a child with partial trisomy 7q / 中华医学遗传学杂志

OBJECTIVE@#To define the nature and origin of a chromosomal aberration in a child with unexplained growth and development retardation, and to analyze its genotype-phenotype correlation.@*METHODS@#A child who had presented at the Affiliated Children's Hospital of Zhengzhou University on July 9, 2019 was selected as the study subject. Chromosomal karyotypes of the child and her parents were determined with routine G-banding analysis. Their genomic DNA was also analyzed with single nucleotide polymorphism array (SNP array).@*RESULTS@#Karyotyping analysis combined with SNP array suggested that the chromosomal karyotype of the child was 46,XX,dup(7)(q34q36.3), whilst no karyotypic abnormality was found in either of her parents. SNP array has identified a de novo 20.6 Mb duplication at 7q34q36.3 [arr[hg19] 7q34q36.3(138335828_158923941)×3] in the child.@*CONCLUSION@#The partial trisomy 7q carried by the child was rated as a de novo pathogenic variant. SNP array can clarify the nature and origin of chromosomal aberrations. Analysis of the correlation between genotype and phenotype can facilitate the clinical diagnosis and genetic counseling.

Clinical characteristics and genetic variant analysis of a child with Snijders Blok-Campeau syndrome / 中华医学遗传学杂志

OBJECTIVE@#To analyze the clinical phenotype and genetic variant of a child with Snijders Blok-Campeau syndrome (SBCS).@*METHODS@#A child who was diagnosed with SBCS in June 2017 at Henan Children's Hospital was selected as the study subject. Clinical data of the child was collected. Peripheral blood samples of the child and his parents were collected and the extraction of genomic DNA, which was subjected to trio-whole exome sequencing (trio-WES) and genome copy number variation (CNV) analysis. Candidate variant was verified by Sanger sequencing of his pedigree members.@*RESULTS@#The main clinical manifestations of the child have included language delay, intellectual impairment and motor development delay, which were accompanied with facial dysmorphisms (broad forehead, inverted triangular face, sparse eyebrows, widely spaced eyes, narrow palpebral fissures, broad nose bridge, midface hypoplasia, thin upper lip, pointed jaw, low-set ears and posteriorly rotated ears). Trio-WES and Sanger sequencing revealed that the child has harbored a heterozygous splicing variant of the CHD3 gene, namely c.4073-2A>G, for which both of his parents were of wild-type. No pathogenic variant was identified by CNV testing.@*CONCLUSION@#The c.4073-2A>G splicing variant of the CHD3 gene probably underlay the SBCS in this patient.

Compound heterozygous NDUFS1 variants identified in a Chinese pedigree affected with mitochondrial respiratory chain complex I deficiency / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic basis for a Chinese pedigree with suspected mitochondrial functional defects through combined next-generation sequencing (NGS), copy number variation sequencing (CNV-seq), and mitochondrial DNA (mtDNA) sequencing.@*METHODS@#Clinical data of the proband and his family members were collected. The patient and his parents were subjected to family-trio whole-exome sequencing (WES), CNV-seq and mtDNA variant detection. Candidate variant was verified by Sanger sequencing.@*RESULTS@#Trio-WES revealed that the proband has carried compound heterozygous variants of the NDUFS1 gene, including a paternally derived c.64C>T (p.R22X) nonsense variant and a maternally derived c.845A>G (p.N282S) missense variant. Both variants may cause loss of protein function. No variant that may cause the phenotype was identified by CNV-seq and mtDNA variant analysis.@*CONCLUSION@#Children with suspected mitochondrial disorders may have no specific syndromes or laboratory findings. A comprehensive strategy including mtDNA testing may facilitate the diagnosis and early clinical interventions.

Robot-assisted gait training can improve lower limb function in cases of acute flaccid paralysis resulting from hand-foot-and-mouth disease / 中华物理医学与康复杂志

Objective To explore the effect of robot-assisted gait training on the standing and walking balance of persons with acute flaccid paralysis (AFP) resulting from hand-foot-and-mouth disease (HFMD).Methods Thirty-six persons with AFP resulting from HFMD were randomly divided into a control group and a training group,each of 18.Both groups were given conventional rehabilitation training,while the training group was additionally provided with robot-aided gait training.The control group received additional massage of their affected limbs.Before and after 15 days of treatment the subjects' standing and walking ability were evaluated using parts D and E of the gross motor function (GMFM) scale.Their balance was quantified using the Berg balance scale (BBS) and integrated surface electromyograms were recorded.Results There were no significant differences between the two groups before the treatment.After 6 weeks of treatment the average scores of both groups had improved significantly,with a significantly bigger increase observed in the training group.After the treatment,the average GMFM and BBS scores of the training group were significantly higher than those of the control group.Conclusion Gait training in addition to conventional rehabilitation training can significantly improve the standing,walking and balance of patients with HFMD resulting from AFP and promote their recovery.

CCK-8 prevents glutamate-induced apoptosis in cultured cortical neurons via up-regulation of bcl-2/bax ratio and down-regulation of caspase-3 / 重庆医科大学学报

Objective: To investigate the mechanisms responsible for the neuroprotection by cholecystokinin octapeptide against glutamate-induced apoptosis in vitro cultured cortical neurons. Methods: Primary cultured corticaI neurons from SD rats of 0～24 hold were incubated for 8 days. The cultured cells were divided randomly into three groups: control group,glutamate group and CCK group. In the controI group,cells were not treated with glutamate orCCK;Neurons in glutamate group were incubated with 50?mol/Lglutamate for 30 min;In CCK group,CCK-8 was added to the Neurons 24 h prior to incubation with glutamate. After injuried by glutamate,cells in all the groups were incubated with normal medium for 0,6,12,24 h and 48 h. At the five time points,cells were fixed respectively for experiment. Cell viability were determined by the colorimetric MTT assay;The protein expression of Bcl-2,Bax and Caspase-3 were determined by immunocytochemistry techniques. Results:Pretreatment with CCK for 24 h significantly improved glutamate-induced suppression of cell viability. Pretreatment with CCK also completely reversed the suppression of Bcl-2 expression,and significantly inhibited Bax overexpression and Caspase-3 activition induced by glutamate. Conclusion:Theneuroprotective mechanisms of CCK against glutamate-induced apoptosis in cultured cortical neurons may be associated with up-regulation of Bcl-2/Bax ratio and down-regulation of Caspase-3.

Protective effect of brain-derived neurotrophic factor on high dose glutamate-injured rat cortical neurons and its mechanism / 第三军医大学学报

Objective To explore the protective effect of brain-derived neurotrophic factor (BDNF) on cultured rat cortical neurons against glutamate (Glu)-induced injury and its mechanism. Methods Cortical neurons were primarily cultured from 1-day-old newborn Sprague-Dawley rats and then cultured for 7 d. The cortical neurons were divided randomly into 3 groups: control group,Glu group and BDNF group after identified with neuron-specific enolase (NSE) immunostaining. The cells of BDNF were treated with 50 ng/ml BDNF on day 6 for 24 h followed by cultured with 50 ?mol/L Glu for 0.5 h. While,the cells of Glu group were cultured with 50 ?mol/L Glu for 0.5 h on day 7. The control cells received no such treatments. On day 8,cell viability were determined by the colorimetric MTT assay. The morphological features of the neuron cells were observed under AO/EB fluorescence microscopy. Expressions of p75NTR,JNK and ERK were observed using Western blot analysis. Results On day 8,the primary cortical neurons grew well. BDNF protected cortical neural cells from Glu injury. Cell viability of BDNF group was (1.14?0.06),significantly higher than that of Glu group (0.72?0.10,P