Objective To investigate the inheritance principle of the expanded GAG repeat allele and the clinical features of spinocerebellar ataxias 3 (SCA3) in a consanguinity family with first cousin marriage.Methods The CAG repeats of SCA3 gene were amplified by means of polymerase chain reaction.Fragment analysis with laser-induced fluorescence in capillary electrophoresis were performed for the positive samples detected by agarose gel electrophoresis.Furthermore,the clinical features were analyzed carefully.Results Fragment analysis revealed that the proband carried 2 alleles with 56 and 72 CAG repeats separately.The proband' s father carried 28 and 66,and the expanded CAG repeat allele inherited from his grandfather.The proband' s mother carried 33 and 56,and the expanded CAG repeat allele inherited from his grandmother.The proband' s son carried 27 and 85 and presented with dystonia besides ataxia.Conclusions The proband' s parents have the common ancestors.Their alleles with expanded CAG repeats probably come from the same allele of their ancestor.The GAG repeat is more unstable in the paternal inheritance than in the maternal inheritance.The 71-year-old asymptomatic family member carry the allele with 56 CAG repeats,which indicates the 56 CAG repeats may be not associated with the disease.The patients within this family have variable clinical features,especially the juvenile-onset case presents with apparent dystonia.

0.05). CONCLUSION:HDL of human plasma could attenuate or inhibit the decrease in BP induced by endotoxin and prolong the survival time.These results indicated that HDL has therapeutic and protective effect on rat with endotoxemia.Inhibition of TNF release might be one of mechanisms.

Objective To investigate the applied value of abnormalities of fetus with oligohydramnios in mid-pregnancy by anmioinfusion. Methods Fifty women with oligohydramnios diagnosed by ultrasonograph were analysed retrospectively. During the procedure 60-300 ml saline solution at 37 ℃ were infused into the amniotic cavity,made prenatal diagnosis at the same time necessarily. And examined the women to know whether the fetal anomaly existed or not after the amnioinfusion by the ultrasound. Results There were 15 cases with fetal anomaly, 8 cases with genitotirinary anomaly(2 cases associated with multiple organs anomaly), 1 case with single umbilical artery, 4 cases with chromosomal abnormality (2 cases associated with fetal growth restriction), 2 cases with pulmonary hypolasia. There was no significant difference in dilivery outcome between others and 35 cases with normal pregnant women (P >0.05). Conclusion Transabdominal amnioinfusion has double function on beth diagnosis and therapy for the oligohydramnios in the mid-pregnancy.

Objective To investigate the clinical features and genetic mutations of spinocerebellar ataxia type 17 (SCA17).Methods The pathological CAG triplet repeat expansions of the SCA3,SCA1,SCA2,SCA6,SCA7,SCA8,SCA12,SCA17 and dentatorubral pallidoluysian atrophy genes were analyzed in 708 probands of autosomal dominant familial SCA and 1 19 sporadic SCA cases.The CAG repeats of TATA-binding protein (TBP) gene were amplified by means of polymerase chain reaction and agarose gel electrophoresis.For the samples with two alleles,fragment analysis based on CEQ8000 sequencer was applied to analyze the CAG repeat numbers.Furthermore,the correlation between clinical features and CAG repeat in the TBP gene was studied carefully.Results The expanded CAG repeats in the TBP gene was detected in 5 cases with 37/50,36/45,38/52,38/53,36/54 separately.And the main clinical manifestations were ataxia and memory impairment.Conclusion These findings indicate that SCA17 might be a rare subtype of SCA in the Chinese population and the clinical features of SCA17 cover a wider spectrum than previously reviewed.

Objective To investigate the characteristics of PMP22 duplication mutation and the clinical variability of Charcot-Marie-Tooth disease type 1A (CMT1A) patients. Methods PMP22 duplication mutation analysis were performed in 45 cases diagnosed probably CMT by combination of improved allele-specific PCR-restriction enzyme digestion and short tandem repeat (STR) analysis based on laser-induced fluorescence detection in capillary electrophoresis. The clinical features of the positive cases were precisely analyzed. Results With the combined use of two methods, PMP22 duplication was detected in 21 cases, i.e. 10 CMT1 cases with typical presentations including weakness and atrophy in the distal limbs, and 11 atypical cases with special phenotypes including 1 case with mild dizziness, 1 case with hearing loss, 2 cases with recurrent limbs weakness, 2 cases with postural tremor in the upper limbs, 4 cases with cerebellar ataxia and 1 case with epilepsy. Conclusions The improved allele-specific PCR-restriction enzyme digestion provides the accurate, reliable and feasible method to detect PMP22 duplication, which is the most common cause of CMT. Comprehensive analysis of clinical, electrophysiological and pathological features of the CMT1A patients with positive PMP22 duplication indicate the high clinical variability of this disease.

Objective To investigate the expression profile of human genes in response to acute sodium arsenite treatment by cDNA microarray. Methods The RNA was purified from the L-02 cells without and with arsenite sodium induction for 2 hours, 15 hours and 24 hours, respectively. Results The hybridization patterns were different between every interval of arsenite induction. Expression of hCYR61 increased after 2 hours' induction, but decreased after 15 hours and 24 hours. Expression of metallothionein Ⅳ and Ⅲ elevated at the whole induction phase. HSP86 was up-regulated after 15 hours and 24 hours' induction, but it did not alter at two hours' induction. Conclusion When exposed to arsenite, the cells are under a meet-an-emergency situation to synthesize the most necessary protein and inhibit synthesis of unessential proteins.

OBJECTIVETo study the adaptive alteration in bilaminar zone of rabbits' temporomandibular joint following disc displacement.

METHODSTwenty-six Japanese white rabbits were used in this study. Among these rabbits,6 were used as controls. The right discs of other 20 rabbits were displaced anteriorly by operation. Four of these rabbits were killedatn 1, 2, 4, 6 and 8 weeks respectively after surgery. The TMJS were studied by HE staining, Alcin bluen staining and in situ detection of type II collagen mRNA expression.

RESULTSThere appeared cartilage metaplasia after one week following disc displacement. Typical chondrocytes could be found in the bilaminar zone. The new chondrocytes expressed type II collagen.

CONCLUSIONSThe bilaminar zone of TMJ will be remodeled following disc displacement and become a disc-like tissue to function as a disc.

Animals ; Collagen Type II ; biosynthesis ; genetics ; Female ; Joint Dislocations ; metabolism ; Male ; RNA, Messenger ; biosynthesis ; Rabbits ; Temporomandibular Joint Disc ; metabolism ; pathology ; Temporomandibular Joint Disorders ; metabolism ; pathology

OBJECTIVETo explore the metabolism-related risk factors of cholelithiasis among residents in Beijing.

METHODSThe clinical data including previous disease history, findings of physical examination, and results of cholecystosonography of 2270 patients with cholelithiasis identified in the Health Screening Center of Peking Union Medical College Hospital between August 2007 and August 2010 were retrospectively reviewed (the case group). Meanwhile, 4336 healthy individuals during the same period were randomly chosen as the control group.

RESULTSTotal cholesterol, triglyceride, low-density lipoprotein cholesterol, fasting blood glucose, body mass index, and systolic blood pressure were positively correlated with the incidence of cholelithiasis (P < 0.05), while high-density lipoprotein cholesterol was negatively correlated (P < 0.05). Diastolic blood pressure showed no association with cholelithiasis (P > 0.05).

CONCLUSIONCholelithiasis is resulted from multiple factors including elevated blood lipids, blood glucose, and systolic blood pressure among residents in Beijing.

Adult ; Aged ; Blood Glucose ; Blood Pressure ; Case-Control Studies ; China ; epidemiology ; Cholelithiasis ; epidemiology ; metabolism ; Female ; Humans ; Lipids ; blood ; Male ; Middle Aged ; Risk Factors

OBJECTIVETo analyze the risk factors of colorectal cancer-related anemia.

METHODThe clinical data of 319 patients with colorectal cancer were retrospectively analyzed for the possible risk factors of tumor-related anemia including tumor location, clinical stage, clinical symptoms, pathology, gender, and age.

RESULTSOf these 319 cases, 141 (44.20%) had anemia. The incidence of anemia was 62.20% among patients with right hemicolon cancers (including caecum cancer), and was 23.82% among patients with rectal cancer and 36.23% among those with transverse descending or sigmoid colon cancer. Cardia insufficiency, melena, tumor location, T staging, hypoproteinemia were also found to be related with anemia. Anemia and hypoproteinemia were the risk factors for perioperative blood transfusion (odds ratio = 3.004, odds ratio = 8.356, respectively).

CONCLUSIONSThe colorectal cancer-related anemia is not associated with the clinical stage of the tumor, while cardiac insufficiency, melena, tumor location, tumor stage, and hypoproteinemia constitute the possible risk factors. Anemia and hypoproteinemia are the risk factors of perioperative blood transfusion.

Adult ; Aged ; Aged, 80 and over ; Anemia ; etiology ; Colorectal Neoplasms ; complications ; Female ; Humans ; Male ; Middle Aged ; Retrospective Studies ; Risk Factors

Objective:To explore the phenotype and molecular genetic features of spinocerebellar ataxia type 2 (SCA2) cases with ATXN2 intermediate-length CAG-repeat expansion.Methods:Fragment analysis by capillary electrophoresis was performed to detect the dynamic mutations in the samples of the probands in 1 383 pedigrees with autosomal dominant inherited ataxia in Research Center for Motor Disorders and Neurogenetic Diseases, Department of Neurology, China-Japan Friendship Hospital from 2005 to 2018. The clinical and genetic features of individuals carrying the ATXN2 intermediate-length CAG-repeat expansion were carefully analyzed.Results:Two hundred and three individuals (including the probands and members of their families) in 163 families carried the expanded CAG repeats in ATXN2 gene, among which 107 individuals in 93 families carried the intermediate-length CAG-repeats. Within 20 parent-child pairs, the CAG repeats increased 0-28 copies in 16 pairs with paternal inheritance, and 0-4 copies in 4 pairs with maternal inheritance.Conclusions:For suspected SCA2 cases, ATXN2 gene testing should be performed on the parental members and adult offspring members in the family. Dynamic mutations testing is essential to identify the individuals with ATXN2 intermediate-length repeat expansion, which is very important for genetic counseling.