An extended 5-generation family has been investigated in which 32 of the 111 family members were diagnosed as having retinitis pigmentosa (RP). The proband was a 58-year old male in whom night-blindness was first observed in early childhood, with almost loss of vision by 52 years of age. The symptoms observed in other family members included night-blindness, impaired vision and visual field loss. Dementia, digital abnormalities, deaf-mutism and mental retardation were variously diagnosed in a number of individuals with RP. The affected and unaffected family members were tested for mutations in a range of candidate genes. The 8 exons of three candidate genes have been analyzed by polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) and DNA sequencing techniques. A novel mutation was identified in the rhodopsin gene at codon 52 of exon 1 (TTC-TAC) that resulted in a substitution of Phe to Tyr.
DNA Mutational Analysis ; Family Health ; *Genes, Dominant/genetics ; Pedigree ; *Point Mutation ; Polymerase Chain Reaction ; Polymorphism, Single-Stranded Conformational ; Retinitis Pigmentosa/*genetics ; Sequence Analysis, DNA

In order to investigate the relationship between sex dysplasia and sex-determining region Y (SRY) gene, 8 patients with sexual abnormality were analyzed by cytogenetic and molecular genetic methods. Fluorescence in situ hybridization (FISH) using PY3.4, X alpha satellite, and SRY probes was performed in each case to analyze the sex chromosome translocation and gene translocation. SRY gene was amplified by polymerase chain reaction (PCR) and its mutation was detected by direct sequencing. The results showed that among 8 patients, 5 were positive for SRY and the remaining negative for SRY. In the patients positive for SRY genes, 3 presented testes and the left 2 streak ovaries. In the patients negative for SRY, only one case presented testes, while 2 ovaries. Direct sequencing demonstrated that all SRY genes were normal in the patients positive for SRY genes. FISH technique demonstrated that SRY genes translocated from Ypter to Xpter in 2 46,XX phenotypic males positive for SRY genes. It was concluded that SRY gene is strongly involved in male sex determination, while a sequence of other genes may be taken into account in sexual development.
Genes, sry/*genetics ; Gonadal Dysgenesis, 46,XX/genetics ; Gonadal Dysgenesis, 46,XY/genetics ; Sex Chromosome Disorders/*genetics ; Sex-Determining Region Y Protein/*genetics

Objective To investigate the distribution of aquaporin 4 (AQP4) and inwardly rectifying potassium channel 4.1 (Kir4.1) inthe astrocytes from human mesial temporal lobe epilepsy (MTLE). Methods Hippocampal specimens, including 10 cases of MTLE and 6cases of non-MTLE, were observed under optical and transmission electron microscopy. The distribution of AQP4 and Kir4.1 in astrocyteswas investigated with immunoflurescence. Results Compared with non-MTLE hippocampus, the main structural changes of MTLE includedremarkable hyperplasia astrocytes, serious swelling astrocytes and distinguished astrophy neurons. In non-MTLE hippocampus, immunoflurescencesignals of AQP4 and Kir4.1 were enriched along perivascular astrocyte end-feet domain. However, it reveals significant loss ofAQP4 and Kir4.1 in perivascular astrocyte end-feet domain in MTLE. Conclusion Loss of perivascular AQP4 and Kir4.1 in the humanMTLE may help to understand the roles of astrocyte in MTLE.

Objective To investigate the relationship between Pin1 and CyclinD1 expression and the development of gastrointestinal stromal tu?mor(GIST). Methods The protein and mRNA expression of Pin1 and CyclinD1 in 85 samples of GIST and adjacent non?cancerous tissues were detected by immunohistochemistry and real?time quantitative polymerase chain reaction. Results The expression rate of Pin1 protein in GIST tis?sues(64.7%;55/85)was higher than that in adjacent non?cancerous tissues(26.7%;4/15). Similarly,the expression rate of CyclinD1 protein in GIST tissues(42.3%;36/85)was higher than that in adjacent non?cancerous tissues(6.7%;1/15). The expression of Pin1 and CyclinD1 mRNA in GIST tissues was 7.03 and 5.53 times that in adjacent non?cancerous tissues ,respectively. There was no obvious correlation between the expres?sion of Pin1 and clinicopathological parameters. The expression of CyclinD1 was positively correlated with the grade of NIH and tumor diameter (P<0.05). There was a significant correlation between the expression of Pin1 and CyclinD1 in GIST tissues. Conclusion The expression of both Pin1 and CyclinD1 was up?regulated in GIST tissues. The significant correlation between the expression of Pin1 and CyclinD1 in GIST tissues sug?gests that their synergistic effect promotes carcinogenesis and the development of GIST.

Objective To investigate the expression changes of astrocytic syntrophin in hippocampus from human mesial temporal lobe epilepsy (MTLE). Methods From April, 2015 to July, 2016, 17 cases of hippocampus, collected from temporal lobectomy, were divided into MTLE group (n=13) and non-MTLE group (n=4) according to hematoxylin and eosin staining, glial fibrillary acidic protein and neuronal nu-clei immunohistochemical staining. Immunofluorescence double labeling and immunofluorescence histochemistry were used to observe the expression of syntrophin. Results The proliferation of astrocytes increased and neurons reduced in the hippocampus of MTLE group. Syntro-phin was found in the membrane and foot processes of astrocyte, that was enriched along perivascular astrocyte end-feet domain in non-MTLE group, but lost in MTLE group. While the whole expression of syntrophin was more in MTLE group than in non-MTLE group (t=5.421, P<0.001). Conclusion The distribution of syntrophin in hippocampus astrocytes may be related to the development of MTLE.

To observe the incidence of varicella vaccine after breaking through the case of varicella vaccine , immunization strategy ,popularized in the city.Inoculation Population living in the Binhai New Area of full age to 12 years old children in December,has been vaccinated or who have had chickenpox varicella vaccine except .Controls were four districts around the city girls without varicella in children.Methods: Implementation of vaccination for the target population.All vaccinees was observed from 42 days to 2 and a half years later ,the incidence of varicella break cases.In the observation group and the control group was observed in two groups of varicella vaccine protection rate calculation.Results: The gelatin free attenuated varicella vaccine breakthrough in 134 cases,the incidence rate was 0.35%;no gelatin attenuated varicella vaccine protection rate of 80.92%, with domestic and foreign reports consistent.Conclusion:After vaccination from 42 to 2 and a half years ,varicella vaccine can effectively protect children from the onset, while reducing the prevalence of children 's pain and the economic burden of the family.Varicella vaccine is still a breakthrough occurred ,therefore to consider two inoculations ,with further observation of two times after inoculation the body to produce antibody level and epidemiological protection effect.

In order to investigate the relationship between sex dysplasia and sex-determining region Y (SRY) gene, 8 patients with sexual abnormality were analyzed by cytogenetic and molecular genetic methods. Fluorescence in situ hybridization (FISH) using PY3.4, X alpha satellite, and SRY probes was performed in each case to analyze the sex chromosome translocation and gene translocation. SRY gene was amplified by polymerase chain reaction (PCR) and its mutation was detected by direct sequencing. The results showed that among 8 patients, 5 were positive for SRY and the remaining negative for SRY. In the patients positive for SRY genes, 3 presented testes and the left 2 streak ovaries. In the patients negative for SRY, only one case presented testes, while 2 ovaries. Direct sequencing demonstrated that all SRY genes were normal in the patients positive for SRY genes. FISH technique demonstrated that SRY genes translocated from Ypter to Xpter in 2 46,XX phenotypic males positive for SRY genes. It was concluded that SRY gene is strongly involved in male sex determination, while a sequence of other genes may be taken into account in sexual development.
Female ; Genes, sry ; genetics ; Gonadal Dysgenesis, 46,XX ; genetics ; Gonadal Dysgenesis, 46,XY ; genetics ; Humans ; Male ; Sex Chromosome Disorders ; genetics ; Sex-Determining Region Y Protein ; genetics

Objective:To evaluate the predictive value of stair climbing test combined with arterial blood gas analysis on postoperative complications in lung cancer patients with limited pulmonary function.Methods:A total of 1 231 hospitalized lung cancer patients with limited pulmonary function dating from August 2012 to August 2020 were retrospectively reviewed. Included in the cohort were 766 of patients who underwent stair climbing test(SCT) preoperatively and completed data collection. Patients were grouped according to their general condition, past medical history, surgical approach, pulmonary function test(PFT) and SCT results. Comparison of the postoperative cardiopulmonary complication rates were made between different groups, and independent risk factors were identified.Results:A total of 182 cardiopulmonary-related complications occurred in 144 cases, accounting for 18.8% of the entire cohort. Perioperative mortality rate was 0.9%(7/766). The rate of postoperative cardiopulmonary complications was significantly different between the groups stratified by gender, age, smoking index, PFT index(FEV1%, DLCO%), SCT results(height achieved, speed, changes in heart rate and oxygen saturation of the arteries before and after the test), ASA score, surgical approach(VATS/Open), resection range(Lobectomy/Sublobectomy), anesthetic duration, blood loss volume, etc. Logistic regression analysis showed that only height achieved( P<0.001), changes in heart rate( P<0.001), changes in oxygen saturation of the arteries( P=0.001), resection range( P=0.006) and anesthetic duration( P=0.025) were independent risk factors for cardiopulmonary-related complications in lung cancer patients with limited pulmonary function. Conclusion:The stair climbing test combined with arterial blood gas analysis could be used as a preoperative screening method for lung cancer patients with limited lung function and may have a predictive value for postoperative cardiopulmonary-related complications.

An extended 5-generation family has been investigated in which 32 of the 111 family members were diagnosed as having retinitis pigmentosa (RP). The proband was a 58-year old male in whom night-blindness was first observed in early childhood, with almost loss of vision by 52 years of age. The symptoms observed in other family members included night-blindness, impaired vision and visual field loss. Dementia, digital abnormalities, deaf-mutism and mental retardation were variously diagnosed in a number of individuals with RP. The affected and unaffected family members were tested for mutations in a range of candidate genes. The 8 exons of three candidate genes have been analyzed by polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) and DNA sequencing techniques. A novel mutation was identified in the rhodopsin gene at codon 52 of exon 1 (TTC-TAC) that resulted in a substitution of Phe to Tyr.
DNA Mutational Analysis ; Family Health ; Female ; Genes, Dominant ; genetics ; Humans ; Male ; Middle Aged ; Pedigree ; Point Mutation ; Polymerase Chain Reaction ; Polymorphism, Single-Stranded Conformational ; Retinitis Pigmentosa ; genetics ; Sequence Analysis, DNA

OBJECTIVETo determine the causative mutation in a 5 generation pedigree with autosomal dominant retinitis pigmentosa (ADRP).

METHODSGenomic DNA from four patients and 4 normal persons in the same pedigree suffering ADRP were extracted, and subsequently eight exons of three ADRP candidate genes were screened for mutations by a combined polymerase chain reaction-single strand conformation polymorphism and DNA sequencing techniques.

RESULTSA new point mutation in rhodopsin gene at codon 52 of exon 1 (TTC to TAC) that resulted in a substitution of Tyr to Phe was detected in the four affected family members, but not in the four control individuals from the same pedigree.

CONCLUSIONA causative mutation of rhodopsin gene was identified in a large Chinese pedigree with ADRP. The present study confirmed the molecular genetic heterogeneity of ADRP.

Adult ; Base Sequence ; DNA ; chemistry ; genetics ; DNA Mutational Analysis ; Family Health ; Female ; Genes, Dominant ; genetics ; Genetic Predisposition to Disease ; genetics ; Genetic Testing ; Humans ; Male ; Middle Aged ; Mutation, Missense ; Polymorphism, Single-Stranded Conformational ; Retinitis Pigmentosa ; diagnosis ; genetics ; Rhodopsin ; genetics