OBJECTIVE: To explore the clinical features and genetic diagnosis of two cases with rare diseases and X chromosome abnormalities. METHODS: Multiple ligation-dependent probe amplification (MLPA) and karyotype analysis were carried out on an 8-year-old girl who was diagnosed with Duchenne muscular dystrophy. Karyotype analysis and PCR assay for SRY and AZF genes were carried out for a-2-month-old male infant with short penis. RESULTS: The girl, who featured short stature and cubitus valgus, was diagnosed as Turner syndrome with a karyotype of 46,X,i(Xq). The male infant was detected with a karyotype of 45,X, with presence of SRY gene but absence of AZF gene. CONCLUSION Both cases may be associated with abnormalities of X chromosome. Genetic testing can facilitate early diagnosis and clinical intervention for such patients.
Chromosomes, Human, X ; Humans ; Infant ; Karyotyping ; Male ; Muscular Dystrophy, Duchenne ; genetics ; Rare Diseases ; Turner Syndrome ; genetics

Objective To investigate the protective effect and its potential molecular mechanism of Nec-1 on cytotoxicity induced by cyclosporine A.Methods MRTEpiC, glomerular endothelial cell MGEC and mesangial cell line MMC were co-administered with Nec-1 and cyclosporin A in mouse renal tubular epithelial cell line, and then MTT assay and soft agar clone formation assay were used to detect Cell growth curve changes, clonal formation ability.Apoptosis was detected by flow cytometry.The expression of cyclin D1, CDK4, CDK2, Cyclin E and apoptosis-related Caspase 3 were detected by Western blot.Results After cyclosporine A action, the cell growth ability was significantly decreased and the clone formation ability was significantly decreased(P<0.05).Cyclin D1, CDK4, CDK2 and Cyclin E were significantly increased(P<0.05), but the ratio of apoptosis and the expression of Caspase 3 did not change.Nec-1 has obvious protective effect on cytotoxicity induced by cyclosporine A, which can increase the cell growth ability and clone formation ability, and reduce the cell cycle-related proteins Cyclin D1, CDK4, CDK2, Cyclin E.Conclusion Nec-1 has cytotoxic effect on the glomeruli and renal tubular cells by up-regulating the cell cycle-related proteins Cyclin D1, CDK4, CDK2 and Cyclin E, while Nec-1 has protective effect.

Objective To explore the expressions of growth factor receptor binding protein 2 -associated bin-ding protein -1 (Gab -1 )and glioma -associated oncogene homologue -1 (Gli -1 )in pediatric medulloblastoma,and to analyze their correlation between clinical and pathological characteristics and prognosis in pediatric medulloblastoma. Methods Elivision immunohistochemistry was used to detect the expressions of Gab -1 and Gli -1 protein in tissue microarray of 40 paraffin embedded pediatric medulloblastoma specimens.Chi -square test or Fisher exact test was used to analyze the correlation between Gab -1 and Gli -1 protein expressions with gender,age,tumor location and pathological subtypes.Follow -up data were handled by using Kaplan -Meier survival analysis and Cox regression anal-ysis.Results Positive expression ratios of Gab -1 and Gli -1 protein in 40 pediatric medulloblastoma were 35.0%and 55.0%,respectively.The positive expression rate of Gab -1 in medulloblastoma tissues had no statistical signifi-cance between different genders[male:30.4%(7 /23 cases)vs.female:41 .2%(7 /17 cases)],age[<3 years old:40.0%(6 /15 cases)vs.≥3 years old:32.0%(8 /25 cases)],tumor location[cerebellum:25.0%(5 /20 cases)vs. the fourth ventricle:45.0%(9 /20 cases)]and pathological subtype[classical type:40.7%(11 /27 cases)vs.desmo-plastic /nodular type:50.0%(5 /10 cases)vs.anaplastic /large cell type:66.7%(2 /3 cases)](χ2 =0.496,0.264, 1 .758,3.289,all P >0.05).There were statistical differences of positive expression rate of Gli -1 protein in different age groups[<3 years old:80.0%(12 /15 cases)vs.≥3 years old 40.0%(10 /25 cases)],different pathological sub-types[classical type:40.7%(11 /27 cases)vs.desmoplastic /nodular type:90.0%(9 /10 cases)vs.anaplastic /large cell type:66.7%(2 /3 cases)](χ2 =6.061 ,7.333,all P <0.05 ).There was no statistical difference in positive expression rate of Gli -1 protein between different gender[male:60.9%(14 /23 cases)vs.female:47.1 %(8 /17 cases)]and different tumor location [cerebellum:55.0% (11 /20 cases)vs.the fourth ventricle:55.0% (11 /20 cases)](χ2 =0.753,0.000,all P >0.05).Kaplan -Meier survival analysis showed that the age,the expressions of Gab -1 and Gli -1 protein were correlated with prognosis of pediatric medulloblastoma(all P <0.05).Cox regression indicated that the age,pathological subtypes and the expression of Gli -1 protein were independent prognostic indicators in pediatric medulloblastoma(all P <0.05).Conclusion Expression of Gab -1 and Gli -1 protein is significantly correlated with the prognosis of medulloblastoma,and the positive expression is a marker of unfavorable prognosis.

Objective To observe the prevalence of cancer-associated anemia and its effect on elderly patients with advanced cancer.Methods Functional Assessment of Cancer Therapy-Anemia Version 4 (FACT-An) was used to investigate the quality of life (QOL) of 86 elderly patients with advanced cancer.The patients were divided into anemia group and non-anemia group.The influence factors for QOL of the elderly patients with advanced cancer were examined,and a multivariate regression was used.Results The prevalence of cancer-associated anemia in elderly patients with advanced cancer was 61.63 ％ (53/86).The scores in physical well-being (16.03±4.14 vs 12.47±4.68,P =0.001),emotional well-being (11.30±3.98 vs 9.45±4.04,P =0.041),functional well-being (13.61±3.74 vs 10.30±4.02,P ＜ 0.001),additional concerns (57.39±7.28 vs 40.06±10.45,P ＜ 0.001) and FACT-An (111.70±13.19 vs 84.34±18.95,P ＜ 0.001) of the non-anemia group were all significantly higher than those of the anemia group.The multivariate regression analysis results indicated that hemoglobin (P ＜ 0.001),comorbidities (P =0.002),performance status (P =0.018),age (P =0.030) were the influence factors for QOL of elderly patients with advanced cancer.Conclusion The morbidity of anemia in elderly patients is increased and it affects the QOL of senior patients with advanced cancer.

OBJECTIVETo analyze potential mutation in keration 9 (KRT9) gene in a large Chinese family with epidermolytic palmoplantar keratoderma (EPPK) and to perform prenatal diagnosis on the fetus at 10th gestational week.

METHODSPeripheral venous blood samples were obtained from 5 affected and 8 unaffected individuals of the family. Fifty unrelated healthy individuals were also recruited as controls. PCR was used to amplify exons 1 and 6 of KRT9 gene, and the products were sequenced directly. After the mutation was confirmed, prenatal diagnosis was performed on the fetus during the first trimester of pregnancy.

RESULTSA heterozygous missense mutation c.482A to G in the KRT9 gene, which has led to substitution of Asparaginate by Serine at codon 161 (p.N161S), was detected in all patients but not in other individuals of the family and the 50 healthy controls. The fetus was found to have carried the p.N161S mutation too. Following selected abortion, analysis of fetal tissue was consistent with prenatal diagnosis.

CONCLUSIONThe missense mutation c.482A to G (p.N161S), which has been shown previously to cause EPPK, is found in the KRT9 gene of patients in this family. Gene mutation analysis for prenatal diagnosis is efficient to facilitate detection of affected fetus in time.

Adult ; Asian Continental Ancestry Group ; genetics ; Base Sequence ; DNA Mutational Analysis ; methods ; Humans ; Keratin-9 ; genetics ; Keratoderma, Palmoplantar, Epidermolytic ; diagnosis ; genetics ; Molecular Sequence Data ; Mutation, Missense ; Pedigree ; Prenatal Diagnosis ; methods

Objective To analyze the mutations of IDS gene in a mucopolysaccharidosis type Ⅱ (MPS Ⅱ) family and to make prenatal diagnosis on the high-risk fetus which has been pregnant for eleven weeks.Methods IDS gene was analyzed by bidirectional DNA sequencing in 2 patients and their mother,and 5 unaffected individuals.Prenatal diagnosis for the high-risk fetus was performed by chorionic villus sampling after the genotypes was identified.Results The mutation c.344delA (N115fsX15) was detected in the two patients,and the mother of patients carried the heterozygous c.344delA (N115fsX15) mutation.None of the mutant was detected in the 5 unaffected subjects.The fetus carried c.344delA (N115fsX15) heterozygous mutation and was a carrier.Conclusion The deletion mutation c.344delA (N115fsX15) is causative to the pedigree of MPS Ⅱ,and prenatal diagnosis is the efficient method to avoid defect birth.

OBJECTIVETo perform mutation screening and prenatal diagnosis for a five-generation Chinese pedigree with autosomal dominant congenital nuclear cataract from Henan province by DNA sequencing.

METHODSBlood samples were taken from the family members. Four candidate genes (CRYBA1/A3, CRYBB1, CRYBB2 and CRYGD) were screened for mutations using direct sequencing. Prenatal genetic diagnosis was provided for a fetus at early gestation through chorionic villus sampling.

RESULTSA missense mutation, c.387C to A, was detected in exon 4 of the CRYBB1 gene in all of the patients. The mutation has resulted in a p.S129R transversion. The same mutation was not found in the fetus of the proband, who was confirmed to be healthy by one-year follow-up.

CONCLUSIONA missense mutation p.S129R of the CRYBB1 gene probably underlies the autosomal dominant congenital nuclear cataract in this pedigree. Detection of the mutation also facilitated prenatal genetic testing for the family.

Asian Continental Ancestry Group ; genetics ; Base Sequence ; Cataract ; congenital ; diagnosis ; genetics ; China ; DNA Mutational Analysis ; Female ; Genes, Dominant ; Genetic Counseling ; Genotype ; Humans ; Male ; Mutation ; Pedigree ; Pregnancy ; Prenatal Diagnosis ; Young Adult ; beta-Crystallin B Chain ; genetics

Objective To identify the mutation of trafficking protein particle complex 2 (TRAPPC2) gene in a large Chinese pedigree with X-linked spondyloepiphyseal dysplasia tarda by the PCR-based capillary electrophoresis methods.Methods The blood samples were collected from a large Chinese pedigree of three generations with six affected persons with X-SEDT.Four exons comprising the TRAPPC2 gene open reading frame as well as their exor/intron boundaries were analyzed by argrose electrophoresis and bidirectional direct sequencing of PCR products.Fluorescence labeled fragment analysis was performed by capillary electrophoresis.Results A 5-bp deletion mutation of TRAPPC2 gene in exon 5,c.262_266delGACAT (D88del; I89fX12),was identified in the proband and his unaffected mother(a heterozygote) in the Chinese family with X-SEDT,but no other sequence change occurring in exons 3,4 and 6 was detected.The old sister of proband was determined being carriers because she carries the deletion fragment allele of exon 5 PCR product and the young sister being normal individuals because she carries the wild allele of TRAPPC2 gene.Conclusions The mutation c.262_266delGACAT (D88del; I89fX12) of TRAPPC2 gene was firstly reported in Chinese people.The mutation of c.262_266delGACAT (D88del; I89fX12) in TRAPPC2 gene may be the pathologic cause of the patients in the X-SEDT pedigree.Fragment analysis combined with DNA sequencing by capillary electrophoresis method is effective laboratory test in the small deletion mutation analysis and carriers screening in X-SEDT family.

Objective: To investigate the mechanisms of moxibustion in the treatment of the colonic fibrosis in ulcerative colitis (UC) by observing the colonic fibroblast (CFB) synthesizing and secreting collagen in ulcerative colitis fibrosis rats. Methods: A rat model of ulcerative colitis fibrosis was established by immunological methods using human colonic mucosa as antigen adding local stimulation. The rats were randomly divided into normal group, model group, herb-partition moxibustion group, mild-warm moxibustion group and western medicine group (SASP group). Herb-partitioned moxibustion group and mild-warm moxibustion group treated by herb-partitioned moxibustion and mild-warm moxibustion respectively on Qihai (CV 6) and Tianshu (ST 25, bilateral) points. SASP group fed with salicylazosulfapyridine. Colonic fibroblasts from all the rats were isolated and cultured and the effects of moxibustion on the colonic fibroblast synthesizing and secreting type I, III, and IV collagen were observed. Results: The supernatant of cultured CFB from UC rats could stimulate the CFB of normal rats to secrete type I, III, and IV collagens. The supernatant from rats treated by herb-partitioned moxibustion and mild-warm moxibustion inhibited the secretion of type I , III, and IV collagens of CFB in normal rats. And the western medicine group also had some inhibiting effects on the type I and HI collagens. Conclusion: Moxibustion can regulate the functions of CFB synthesizing and secreting type I, III, and IV collagens in ulcerative colitis fibrosis rats.

Mu-guk-bo-yang-tm (tm means moxibustion), which Nam-soo Kim has developed from extensive clinical findings through acupuncture and moxibustion applications for over 80 years. Mu-guk-bo-yang-tm inclucing Zusanli (ST36), Quchi (LI11), Zhongwan (CV12), Feishu (BL13), Gaohuang (BL43), Baihui (GV 20), Qihai (CV6), Guanyuan (CV4) [Zhongji (CV3) and Shuidao (ST28) replace Qihai (CV 6) and Guanyuan (CV4) for women]. Do moxibustion 3-5 cones on every point with half the size of a rice of moxa every day.