Objective To explore the genetic mutation in neonates who failed to pass hearing screening.Methods A total of 111 cases of neonates who failed to pass hearing screening and were conifrmed sensorineural deafness by auditory brainstem evoked potential (ABR) were randomly selected. The heel blood was collected and DNA was extracted.GJB2, SLC26A4, and 11 mutation hotspots in mitochondria gene12SrRNA were tested. The relationship between degree of hearing loss and gene mutation was analyzed.Results In 111 neonates, mutation in deafness gene were found in 24 cases (21.6%) . Among them 14 cases (12.6%) hadGJB2 gene mutation including 5 cases of 235delC single heterozygous mutation, 5 cases of 235delC, and 1 case each of 299_300delAT compound heterozygous mutation, 235delC homozygous mutation, 299_300delAT single heterozygous mutation, 176_191del16 and 235delC compound heterozygous mutation, and 299_300delAT and 508_511dupAACG compound heterozygous mutation respectively. Ten cases (9.0%) hadSLC26A4 gene mutation including 2 cases of IVS7-2A>G single heterozygous mutation, 3 cases of 1226G>A single heterozygous mutation, 2 cases of 2168A>G single heterozygous mutation, and 3 cases of IVS7-2A>G and 2168A>G compound heterozygous mutation. Mitochondrial gene mutations were not detected. Conclusions Deafness gene mutation is detected in more than 1/5 neonates who failed to pass newborn hearing screening. GJB2 gene mutation is the most commons. The implementation of hotspots deafness gene detection can improve the diagnostic rate of deafness.

Objective: Retro-laparoscopic partial nephrectomy is a challenge for ventro-renal tumors, especially hilar tumors.The tumors are partial or entirely out of operative field and there is blind space for operation.To solve this problem, a set of techniques including renal pedicle rotation is developed.Methods: A set of techniques including renal pedicle rotation, double-layer suture, early artery unclamping for retro-laparoscopic nephrectomy for ventro-renal tumors, especially hilar tumors were developed.Hilar tumors were located anteriorly to the angle of the renal and renal arteries and in contact with the anterior surface of the renal artery.The evaluation of the outcomes included the operation time, warm ischemia time, estimated haemorrhage, surgical margin, renal function after operation, and complications.This study reviewed the data of 28 patients with ventro-renal tumor, including 15 patients with complex hilar tumors.Results: The average tumor size was (3.8±0.5) cm.The average R.E.N.A.L score was 8 (ranging from 7 to 9).The average warm ischemia time was (23.8±4.7) min, and suture time was (26.2±6.5) min, and operation time was (124.1±12.1) min.The median hospital stay was 4 days and the average estimated haemorrhage was (139.1±54.0) mL.All the surgeries were operated under laparoscope and no surgery switched to open surgery.Seven patients developed Clavien Dindo Ⅰ-Ⅱ complications after operation.Three patients (10.7%) developed collective system damage and received repair of collective system in time and three patients (10.7%) developed slightly gross hematuria (Clavien-DindoⅠ).Two patients developed wound infection (Clavien-DindⅡ).Three patients (10.7%) got renal vein clamped because of capillary hemorrhage from basilar part of tumors.There were 14 patients received early unclamping of renal artery, and no obvious renal vessel damage was found.There were statistically significant differences between the serum creatinine levels (P<0.05) and the estimated glomerular filtration rates (P=0.02) before and after surgery.All the patients'' serum creatinine levels were in normal range and no patient needed regular dialysis.There was no positive surgical margin and the median follow-up was 7 months without local recurrence or distant metastasis.Conclusion: It is safe and effective to apply renal pedicle rotation technique in retro-laparoscopic partial nephrectomy for ventro-renal tumors.The short-term follow-up results are optimistic, but long follow-up is required.

Duck circovirus(DuCV),a potential immunosuppressive virus,was investigated in Southern China from March 2006 to December 2009 by using a polymerase chain reaction(PCR)based method. In this study,a total of 138 sick or dead duck samples from 18 different farms were examined with an average DuCV infection rate of～35%. It was found that ducks between the ages of 40～60 days were more susceptible to DuCV. There was no evidence showing that the DuCV virus was capable of vertical transmission. Farms with positive PCR results exhibited no regularly apparent clinical abnormalities such as feathering disorders,growth retardation or lower-than-average weight. The complete genomes of 9. strains from Fujian Province and 1 from Zhejiang Province were sequenced and analyzed. The 10 DuCV genomes,compared with others genomes downloaded from GenBank,ranged in size from 1988 to 1996 base pairs,with sequence identities ranging from 83.2% to 99.8%. Phylogenetic analysis based on genome sequences demonstrated that DuCVs can be divided into two distinct genetic genotypes,Group I(the Euro-USA lineage)and Group II(the Taiwan lineage),with approximately 10.0% genetic difference between the two types. Molecular epidemiological data suggest there is no obvious difference among DuCV strains isolated from different geographic locations or different species,including Duck,Muscovy duck,Mule duck,Cheery duck,Mulard duck and Pekin duck.

OBJECTIVETo explore the genetic cause of a female patient with severe mental retardation and a history of adverse pregnancy.

METHODSThe patient was subjected to G-banded chromosome analysis and single nucleotide polymorphism array (SNP-array) assaying. The correlation between genomic variations and the phenotype was explored.

RESULTSThe patient was found to have a complex chromosome rearrangement involving 5 chromosomes. The karyotypes of her parents were both normal. SNP-array assay has identified a 1.6 Mb microdeletion at chromosome 15q21.3 which involved 15 RefSeq genes and a 0.5 Mb microdeletion at 5q21.1 which involved one RefSeq gene.

CONCLUSIONThe microdeletions, which involved TCF12, ADMA10 and AQP9 genes, probably underlie the mental retardation shown by the patient.

Adult ; Chromosome Banding ; methods ; Chromosome Deletion ; Chromosomes ; genetics ; Female ; Genetic Testing ; methods ; Humans ; Intellectual Disability ; genetics ; Karyotype

Objective To investigate the therapeutic effect of damage control neurosurgery (DCNS) on patients with bilateral frontal contusion.Methods Thirty-three patients with bilateral frontal contusion,admitted to and accepted DCNS in our hospital from September 2017 to January 2019,were chosen in our study.According to DCNS rules,the disease condition changes of these patients were monitored,the internal environment disorders after trauma were adjusted,plasma osmotic pressure was increased,and blood oxygen saturation was maintained;once the patients grew worse,craniotomy and decompression should be undertaken immediately;the patients were followed up for 6 months after the injury and Glasgow outcome scale (GOS) was used to determine the prognoses of these patients.Results Among the 33 patients,25 (76％) received conservative treatment successfully,8 (24％) were converted to surgery during conservative treatment.Among the 8 patients,5 received unilateral craniotomy and three received bilateral craniotomy.The lower the Glasgow coma scale scores,the lower the proportion of conservative patients.GOS 6 months after injury showed good recovery in 11 patients,mild disability in 16 patients,severe disability in 4 patients,and plant survival in two patients;22 patients from the conservative treatment group and 5 from the surgery group had good recovery or mild disability.Conclusion DCNS can reduce the operation rate and its complications so as to make the patients recover earlier and better in the treatment of bilateral frontal contusion.

OBJECTIVETo explore the genetic cause for a child with developmental delay.

METHODSThe karotypes of the child and her parents were analyzed with G-banding analysis. Their genome DNA was analyzed with low-coverage massively parallel copy number variation sequencing (CNV-seq) and verified by single nucleotide polymorphism array (SNP-array).

RESULTSThe karyotype of the child was ascertained as 46,XX,r(15)(p13q26.3), while both parents showed a normal karyotype. CNV-seq and SNP-array have identified a de novo 15q26.2-q26.3 deletion in the child with a size of approximately 3.60 Mb.

CONCLUSIONThe abnormal phenotype of the patient carrying the ring chromosome 15 may be attributed to the presence of the 15q26.2-q26.3 microdeletion. The deletion and haploinsufficiency of the IGF1R gene probably underlie the main clinical features of the patient.

Child, Preschool ; Chromosome Banding ; Chromosomes, Human, Pair 15 ; genetics ; DNA Copy Number Variations ; Female ; Humans ; Karyotyping ; Mosaicism ; Ring Chromosomes ; Sequence Deletion

OBJECTIVE To analyze a neonate with multiple malformations and to correlate its genotype with phenotype. METHODS The karotypes of the child and her parents were subjected to G-banding chromosome analysis, and array comparative genomic hybridization (array-CGH) was used for fine mapping of the aberrant region. RESULTS The karyotype of the child was ascertained as 46,XX,del(18)(p11.2). Array CGH has identified a 9.8 Mb deletion at 18p11.32-p11.22. The patient has presented features such as holoprosencephaly, choanal atresia, heart defect, and craniofacial dysmorphisms. CONCLUSION The de novo 18p deletion probably underlies the main clinical manifestations of the child.
Abnormalities, Multiple ; genetics ; Chromosome Banding ; Chromosome Deletion ; Chromosomes, Human, Pair 18 ; Female ; Humans ; Infant, Newborn ; Phenotype

OBJECTIVETo explore the molecular basis for three pedigrees affected with hypophosphatemia vitamin D resistant rickets (X-linked hypophosphatemia, XLH).

METHODSPeripheral blood samples from the three pedigrees were collected. Following DNA extraction, the 11 exons and flanking regions of the PHEX gene were subjected to PCR amplification and direct sequencing. Pathogenicity of identified mutations was evaluated through genotype-phenotype correlation.

RESULTSFor pedigrees 1 and 2, pathogenic mutations were respectively identified in exon 8 (c.871C>T, p.R291X) and exon 15 (c.1601C>T, p.P534L) of the PHEX gene. For pedigree 3, a novel mutation (c.1234delA, p.S412Vfs*12) was found in exon 11 of the PHEX gene, which caused shift the reading frame and premature termination of protein translation.

CONCLUSIONThe three mutations probably account for the XLH in the affected pedigrees. The discovery of novel mutations has enriched the spectrum of PHEX gene mutations.

OBJECTIVETo detect potential mutations in two neonates suspected for Cornelia de Lange syndrome (CdLS).

METHODSPeripheral blood samples from the neonates and their parents were collected and analyzed for CdLS-related genes using targeted sequence capture and next-generation sequencing. Suspected mutations were confirmed by direct Sanger sequencing.

RESULTSThe neonates were found to respectively carry mutations c.7219C to T and p.D2339Lfs*4 of the NIPBL gene, among which the p.D2339Lfs*4 mutation has not been reported previously. No pathogenic mutation was found in other CdLS-related genes including NIPBL, SMC1A, SMC3, RAD21 and HDAC8.

CONCLUSIONThe c.7219C to T and p.D2339Lfs*4 mutations of the NIPBL gene probably account for the disease in both patients.

OBJECTIVE: To explore the genetic basis for a fetus with cerebellar dysplasia and widened lateral ventricles. METHODS: The couple have elected induced abortion after careful counseling. Skin tissue sample from the abortus and peripheral venous blood samples from both parents were collected for the extraction of genomic DNA, which was then subjected to whole exome sequencing. Candidate variant was verified by Sanger sequencing. RESULTS: Prenatal ultrasonography showed increased nuchal translucency (0.4 cm) and widened lateral ventricles. Magnetic resonance imaging revealed infratentorial brain dysplasia. By DNA sequencing, the fetus was found to carry compound heterozygous variants c.1A>G and c.1564G>A of the RARS2 gene, which were inherited from its father and mother, respectively. Among these, c.1A>G was known to be pathogenic, but the pathogenicity of c.1564G>A was unreported previously. Based on the American College of Medical Genetics and Genomics guidelines, the c.1564G>A variant of RARS2 gene was predicted to be likely pathogenic(PM2+PM3+PP3+PP4). CONCLUSION The compound heterozygous variants c.1A>G and c.1564G>A of RARS2 gene contributed to the fetus suffering from pontocerebellar hypoplasia type 6, which expanded variant spectrum of RARS2 gene.
Female ; Fetus ; Genomics ; Humans ; Mutation ; Olivopontocerebellar Atrophies ; Pregnancy ; Whole Exome Sequencing