Adolescent ; Adult ; Aged ; Aged, 80 and over ; Antigens, CD34 ; metabolism ; Child ; Colonic Neoplasms ; pathology ; Cystadenocarcinoma, Mucinous ; metabolism ; secondary ; Cystadenocarcinoma, Serous ; metabolism ; secondary ; Female ; Humans ; Macrophage Migration-Inhibitory Factors ; metabolism ; Microvessels ; pathology ; Middle Aged ; Neoplasm Recurrence, Local ; Ovarian Neoplasms ; metabolism ; pathology ; secondary ; Stomach Neoplasms ; pathology ; Tumor Suppressor Protein p53 ; metabolism ; Young Adult

OBJECTIVETo study the mutation feature of ganglioside-induced differentiation associated protein-1 (GDAP1) gene in Chinese Charcot-Marie-Tooth disease(CMT) patients.

METHODSMutation analysis was carried out by use of polymerase chain reaction-single strand conformation polymorphism(PCR-SSCP) combined with DNA direct sequencing of the six exons and their flanking regions of GDAP1 gene in twenty-three CMT patients, including 8 probands of autosomal recessive CMT families and 15 sporadic patients.

RESULTSA compound heterozygous mutation A533G and A767G were unveiled in one autosomal recessive CMT kindred. The homozygous and heterozygous T507G were common SNPs in Chinese population.

CONCLUSIONA533G and A767G of GDAP1 gene were new mutations firstly reported.

Adolescent ; Adult ; Charcot-Marie-Tooth Disease ; genetics ; Child ; Child, Preschool ; Female ; Humans ; Male ; Mutation ; Nerve Tissue Proteins ; genetics ; Polymerase Chain Reaction ; Polymorphism, Single-Stranded Conformational ; Sequence Analysis, DNA

OBJECTIVETo investigate the mutation characteristics of spastin gene in Chinese patients with hereditary spastic paraplegia (HSP) and thus provide a basis for the gene diagnosis of HSP.

METHODSMutation of spastin gene was screened by polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) combined with DNA direct sequencing in 31 unrelated affected HSP individuals in China, of whom 22 were from autosomal dominant families and 9 were sporadic HSP patients. Co-segregation analysis was carried out after the finding of abnormal SSCP bands.

RESULTSSix cases were found to have abnormal SCP bands, and among them, two missense mutations (T1258A, A1293G in exon 8) and one deletion mutation (1667delACT or 1668delCTA or 1669delTAC in exon 14) were found and all of them were not reported previously. They were all co-segregated with the disease and were localized within the functional domain of spastin gene. Besides, T1258A was seen in two unrelated families.

CONCLUSIONThe mutation rate (18.2%) in autosomal dominant HSP in Chinese patients is comparatively low. Point mutation is the major mutation type and exon 8 may be the mutation hot spot.

Adenosine Triphosphatases ; genetics ; Asian Continental Ancestry Group ; genetics ; China ; Exons ; Female ; Humans ; Introns ; Male ; Mutation ; Mutation, Missense ; Pedigree ; Spastic Paraplegia, Hereditary ; genetics ; Spastin

The objective of this study was to explore the clinical significance of measuring serum free light chains (sFLC) and to compare with serum total light chains (free and binded) in multiple myeloma (MM). sFLC in 20 newly diagnosed MM patients and 20 cases of healthy people as control were measured by immuno-nephelometric assays; the serum light chains and kappa/lambda ratio were measured in all patients, while immunofixation electrophoresis (IFE) tests were carried out at the same time in 18 out of 20 patients. The results showed that the abnormality of serum free light chains and kappa/lambda ratio were found in all of the 20 newly diagnosed MM patients (p < 0.01). The measurement of sFLC showed higher sensitivity than the total serum chains (p < 0.01). It is concluded that the method testing sFLC by immuno-nephelometric assay combined with kappa/lambda ratio is valuable for MM diagnosis, and the measurement of sFLC can be used as one of indicators for MM diagnosis.
Adult ; Aged ; Biomarkers, Tumor ; blood ; Female ; Humans ; Immunoglobulin kappa-Chains ; blood ; Immunoglobulin lambda-Chains ; blood ; Male ; Middle Aged ; Multiple Myeloma ; blood

OBJECTIVETo clone the disease-causing genes possibly existing in 6.8 cM distance between microsatellite markers D12S1720 and D12S1611 in chromosome 12q24 for Charcot-Marie-Tooth disease type 2L (CMT2L).

METHODSTen positional and functional candidate genes were chosen among all known genes in this locus region by bioinformatics inqury. Mutation detection was performed by sequencing the exons and intron-exon junctions of the candidate genes.

RESULTSEleven sequence variations, that included 5 heterozygous and 6 homozygous variations, were detected in the exons and flanking areas of the 10 candidate genes. All the variations showed no co-segregation with disease phenotype.

CONCLUSIONTen candidate genes(TAOK3, RAB35, RPLP0, PXN, RNF10, RHOF, VPS33A, RSN, DENR, RNP24) were ruled out as the disease-causing gene for CMT2L. Ten single nucleotide polymorphisms (SNP) were reported for the first time.

Base Sequence ; Charcot-Marie-Tooth Disease ; genetics ; Chromosomes, Human, Pair 12 ; genetics ; Cloning, Organism ; DNA ; analysis ; DNA Mutational Analysis ; Humans ; Molecular Sequence Data ; Nucleic Acid Amplification Techniques

BACKGROUNDHereditary spastic paraplegia (HSP) is a group of inherited neurodegenerative disorders with the shared characteristics of slowly progressive spasticity and weakness of the lower limbs. Thirteen loci for autosomal dominant HSP have been mapped.

METHODSA Chinese family with HSP was found in the Shandong province and Inner Mongolia Autonomous Region of China and genomic DNA of all 19 family members was isolated. After exclusion of known autosomal dominant loci, a genome wide scan and linkage analysis were performed.

RESULTSThe known autosomal dominant loci of SPG3A, SPG4, SPG6, SPG8, SPG9, SPG10, SPG12, SPG13, SPG17, SPG19, SPG29, SPG31 and SPG33 were excluded by linkage analysis. The results of a genome wide scan demonstrated candidate linkage to a locus on chromosome 11p14.1-p11.2, over an 18.88 cM interval between markers D11S1324 and D11S1933. A maximal, two point LOD score of 2.36 for marker D11S935 at a recombination fraction (theta) of 0 and a multipoint LOD score of 2.36 for markers D11S1776, D11S1751, D11S1392, D11S4203, D11S935, D11S4083, and D11S4148 at theta=0, suggest linkage to this locus.

CONCLUSIONThe HSP neuropathy in this family may represent a novel genetic entity, which will facilitate discovery of this causative gene.

Adult ; Chromosome Mapping ; Chromosomes, Human, Pair 11 ; Female ; Humans ; Lod Score ; Male ; Spastic Paraplegia, Hereditary ; genetics

OBJECTIVETo investigate the features of small heat shock protein 27 (HSP27) gene mutation in Chinese patients with Charcot-Marie-Tooth disease (CMT).

METHODSDNA samples from 114 CMT probands were screened for mutations in HSP27 gene by polymerase chain reaction and direct sequencing, and haplotype analysis was further carried out on the mutation detected families.

RESULTSOne missense mutation C379T was detected in 4 autosomal dominant CMT2 families. Haplotype analysis indicated that the 4 families probably had a common ancestor.

CONCLUSIONTo the authors' knowledge, this is the first report of HSP27 gene mutation in Chinese patients with CMT, but it may be not common(0.90%). The C379T mutation in HSP27 gene also causes CMT2 except for distal hereditary motor neuropathy, thus providing further evidence that even the same mutation in the same gene may lead to distinct phenotypes.

Asian Continental Ancestry Group ; genetics ; Base Sequence ; Charcot-Marie-Tooth Disease ; ethnology ; genetics ; DNA Mutational Analysis ; methods ; Female ; HSP27 Heat-Shock Proteins ; genetics ; Haplotypes ; Humans ; Male ; Mutation ; Mutation, Missense ; Pedigree

OBJECTIVETo study the characteristics of the mutation of small heat-shock protein 22 (HSP22) gene in Chinese patients with Charcot-Marie-Tooth (CMT) disease.

METHODSA CMT2L proband with 423(G--> T) mutation in HSP22 gene had been studied and reported by the present authors. In this study, mutation analysis of HSP22 gene was performed using polymerase chain reaction and DNA direct sequencing in 114 CMT probands.

RESULTSIn the 114 CMT probands, a 582(C--> T)(T194T)samesense mutation was found in two unrelated families.

CONCLUSIONThe rate of HSP22 gene mutation in Chinese patients with CMT is as low as 0.87%(1/115).

Asian Continental Ancestry Group ; genetics ; Charcot-Marie-Tooth Disease ; ethnology ; genetics ; China ; DNA Mutational Analysis ; Heat-Shock Proteins, Small ; genetics ; Humans ; Mutation ; Polymerase Chain Reaction

Objective:To evaluate the effectiveness and safety of ultrasound-guided hydrostatic reduction for pediatric acute intussusception.Methods:One thousand eight hundred and thirty patients with acute intussusception diagnosed by ultrasound in Shenzhen Children′s Hospital from September 2017 to July 2020 were treated with ultrasound-guided hydrostatic reduction method. The therapeutic effects, complications and ultrasonic features were observed.Results:Among 1 830 cases, 1 791 cases were diagnosed as primary intussusception, and 39 cases were secondary intussusception. The overall rate of successful ultrasound enema reduction were 1 780/1 830(93.7%) patients. All 50/1 830(2.7%) patients underwent surgery after unsuccessful enema reduction, including 42 cases of primary intussusception, and 8 cases of secondary intussusception. The complication of intestinal perforation occurred in 3 cases (0.16%), and there were no deaths.Conclusions:Ultrasound-guided enema reduction for pediatric acute intussusception is an effective and safe method without radiation exposure, and can be used as the preferred method for non-operative treatment of intussusception.