OBJECTIVETo review the clinical and genetic features of a pedigree of Kennedy disease in China.

METHODSThe clinical data of patients from a Kennedy disease family were collected. The numbers of trinucleotide CAG repeats in exon 1 of the androgen receptor gene were determined by DNA sequencing and repeat fragment analysis.

RESULTSIn the pedigree, 4 patients were identified as Kennedy disease. Clinical manifested with adult-onset, progressive proximal limb muscle weakness and atrophy, gynecomastia, oligospermia were also presented. The number of trinucleotide CAG repeats in exon 1 of the androgen receptor gene was 51 in the proband. The electrophysiological study showed sensory and motor involvement and their serum triglycerides values were elevated significantly.

CONCLUSIONAndrogen receptors gene testing is the most reliable diagnosing method, the patients suspected as Kennedy disease should have a gene testing of androgen receptors.

Base Sequence ; Bulbo-Spinal Atrophy, X-Linked ; diagnosis ; genetics ; Humans ; Male ; Middle Aged ; Molecular Sequence Data ; Pedigree ; Receptors, Androgen ; genetics ; Trinucleotide Repeats ; genetics

OBJECTIVETo evaluate the perinatal management and outcome of different types of fetal arrhythmia.

METHODSA retrospective analysis was conducted among the fetuses with arrhythmia identified by M-mode and pulsed Doppler echocardiography in a single institution between October 2003 and December 2010.

RESULTSA total of 130 fetuses were found to have fetal arrhythmia. The most common arrhythmia during pregnancy was extrasystole (n=59), followed by bradycardia (n=23), tachycardia (n=16), atrial flutter (AF, n=3), atrioventricular block (AVB, n=12) and other arrhythmia (n=17). The overall incidence of cardiac anomalies (commonly fetal bradycardia) was 9.2% in these cases. The prognosis of arrhythmia differed significantly between cases of different classifications. The type of fetal arrhythmia (P=0.024), presence of congenital heart defect (CHD, P=0.000) and fetal hydrops (P=0.008) were significant risk factors associated with termination of pregnancy.

CONCLUSIONFetal arrhythmias without CHD or hydrops under close monitoring often have good clinical outcome, while fetal bradycardia is associated with a high mortality rate. CHD and the presence of fetal hydrops are significant risk factors for pregnancy termination.

Adult ; Arrhythmias, Cardiac ; classification ; diagnostic imaging ; Female ; Fetal Diseases ; diagnostic imaging ; Heart Defects, Congenital ; diagnostic imaging ; Humans ; Pregnancy ; Pregnancy Trimester, Second ; Pregnancy Trimester, Third ; Retrospective Studies ; Ultrasonography, Doppler, Color ; Ultrasonography, Prenatal ; Young Adult

Objective:To provide a simple and replicable method of building an atherosclerotic intracranial arterial stenosis model of rabbits .Methods:Twenty‐five New Zealand white rabbits were randomly divided into three groups .Five rabbits in control group were fed with normal diet and received sham arteriotomy of femoral artery .Ten rabbits in pure high‐fat diet group were fed with high‐fat diet and received sham arteriotomy of femoral artery .Ten rabbits in balloon‐injury group were fed with high‐fat diet and underwent endovascular balloon‐injury operation of intracranial vertebral artery through femoral artery .All the operations were performed after two weeks of adaptive feed .Each group was fed with previous diet after operation .Digital subtraction angiography (DSA) of target vertebral artery was performed two and four weeks after operation (four and six weeks after the scheduled diet) .Serum lipid level was test and the histopathologic examinations were performed . Results:No significant difference was found by DSA or pathological detection of blood vessel in target vertebral artery of control group and pure high‐fat diet group .DSA revealed the mild luminal stenosis in three cases and unsmooth inner wall in six cases at the target vertebral arteries in balloon‐injury group two weeks after operation .Also the DSA revealed the mild luminal stenosis in five cases ,moderate luminal stenosis in two cases and unsmooth inner wall in two cases in balloon‐injury group four weeks after operation .Detection of serum lipid level showed that the serum lipid level of white rabbits in pure high‐fat diet group and balloon‐injury group was significantly higher than that in control group (P< 0 .05) .No significant difference of serum lipid level was found between pure high‐fat diet group and balloon‐injury group .Histopathologic examination showed the disorder of endothelial structure in target vertebral arteries ,interruption of endothelial continuity and deposition of foam cell under intima in the high‐fat diet combined balloon‐injury group .Conclusions: The method of high‐fat diet combined with endovascular balloon‐injury is beneficial to successfully build a relatively stable model of rabbits atherosclerotic intracranial arterial stenosis ,and it provides the basis for further studies .

Objective To explore the effect of clinic professional nursing guidelines in nursing admini stration.Methods Clinic professional nursing guidelines were formulated according the specific condition in different apartment,the content includes two parts: routine disease care and symptom nursing guideline.Five departments of respiratory medicine,neurosurgery,oncology,orthopedic surgery and oncology radiation were randomly selected as studying subjects and the data was compared before and after guidelines.Results Neurosurgery was selected as a representation,basic nursing quality as(2.223 ±0.315),satisfaction degree was(41.26 ±3.25)before guideline and(3.122 ±0.214)and(46.12 ±5.26)after guideline respectively.The differences were statistically significant (t =21.833,12.740; P＜0.05 or ＜0.01).Conclusions Application of clinic professional nursing guidelines could standardize the nursing behavior and provide scientific,accurate,professional and practical nursing guidelines for first-line nurses,especially for those on further training,new graduate and new to switch department nurses,and raise the work effect and guarantee the work quality,reduce the nursing risk and ensure the nursing safe for them.

OBJECTIVETo describe the clinical and epidemiological features of dead cases with human Streptococcus suis infections, and to find the target population for preventing death and the related indicators.

METHODSEpidemiological investigation on human Streptococcus suis infections was implemented used unified questionnaires. Analysis on dead cases and survival cases (as contrast) was done.

RESULTSThe population with highest fatality rate was in 40-49 age group. 97.37% of dead cases had toxic shock syndrome. The mean interval from onset to admission was 0.76 days, and the mean course was 2.11 days. The progression among dead cases was faster than that among survival cases. Chief clinical manifestations of dead cases that are more frequent than survival cases are purpura (73.68%), diarrhea (50.0%), dyspnea (21.05%), conjunctival congestion (34.21%), etc. Renal impairment and liver involvement in dead cases were more significant than that in survival cases. No significant difference between mean incubation period, exposure rates of main risk factors in dead cases and in survival cases was found.

CONCLUSIONPreventing toxic shock syndrome might reduce the fatality rate. The target population for preventing death is aged > or = 40. Liver function and renal function testing might be indicators for monitoring the progression of human Streptococcus suis infections.

Adult ; Aged ; China ; Disease Progression ; Female ; Humans ; Male ; Middle Aged ; Streptococcal Infections ; blood ; microbiology ; mortality ; pathology ; Streptococcus suis ; physiology ; Young Adult

OBJECTIVESTo study the biological function and its possible underlying mechanism of peroxiredoxin II (PrxII) in liver cancer cell line Hep3B.

METHODSTwo pairs of double-stranded small interfering RNA (siRNA) targeted on PrxII gene were transfected into Hep3B cells using LipofectamineTM 2000. After confirming the inhibited effects of these siRNAs through Quant SYBR Green polymerase chain reaction and Western blot, the biological characters of Hep3B cell were analyzed by flow cytometry analysis, MTT and colony formation assays. Furthermore, dichlorodihydrofluorescein diacetate (DCFH-DA) and thiobarbituric acid (TBA) assays, for measuring the products of oxidative reaction, such as the reactive oxygen species (ROS) and malondialdehyde (MDA), were applied to explore whether the antioxidant mechanism was involved in the effects of PrxII functioning on Hep3B cell.

RESULTSThe two pairs of siRNA significantly inhibited PrxII mRNA and protein expression. Compared to the mock and blank control groups, the two PrxII-silent groups showed decreased rates of cell growth and clone formation and increased rates of cell apoptosis. The numbers of the formed colonies were 42.0+/-2.8 and 40.5+/-0.7 respectively in the two PrxII-silent groups, while they were 121.5+/-2.1 and 130.0+/-1.4 in the mock and blank control groups (P less than 0.05). The levels of endogenous ROS and MDA were significantly higher in the two PrxII-silent groups than those in the mock and blank control groups (P less than 0.05).

CONCLUSIONPrxII might play an important role in the hepatocarcinogenesis, possibly through an antioxidant function which may provide a favorable microenvironment for cancer cell survival and progression.

Cell Line, Tumor ; Humans ; Liver Neoplasms ; genetics ; metabolism ; pathology ; Oxidative Stress ; Peroxiredoxins ; genetics ; RNA, Small Interfering ; Reactive Oxygen Species ; Signal Transduction ; Transfection

OBJECTIVEIn mid-July 2005, five patients presented with septic shock to a hospital in Ziyang city in Sichuan, China, to identify the etiology of the unknown reason disease, an epidemiological, clinical, and laboratory study were conducted.

METHODSAn enhanced surveillance program were established in Sichuan, the following activities were introduced: active case finding in Sichuan of (a) laboratory diagnosed Streptococcus suis infection and (b) clinically diagnosed probable cases with exposure history; supplemented by (c) monitoring reports on meningococcal meningitis. Streptococcus suis serotype 2 infection was confirmed by culture and biochemical reactions, followed by sequencing for specific genes for serotype and virulence factors.

RESULTSFrom June 10 to August 21, 2005, 68 laboratory confirmed cases of human Streptococcus suis infections were reported. All were villagers who gave a history of direct exposure to deceased or sick pigs in their backyards where slaughtering was performed. Twenty six (38%) presented with toxic shock syndrome of which 15 (58%) died. Other presentations were septicaemia or meningitis. All isolates were tested positive for genes for tuf, species-specific 16S rRNA, cps2J, mrp, ef and sly. There were 136 clinically diagnosed probable cases with similar exposure history but incomplete laboratory investigations.

CONCLUSIONAn outbreak of human Streptococcus suis serotype 2 infections occurred in villagers after direct exposure to deceased or sick pigs in Sichuan. Prohibition of slaughtering in backyards brought the outbreak to a halt. A virulent strain of the bacteria is speculated to be in circulation, and is responsible for the unusual presentation of toxic shock syndrome with high case fatality.

Animals ; Bacteremia ; epidemiology ; microbiology ; China ; epidemiology ; Disease Outbreaks ; Humans ; Meningitis, Bacterial ; epidemiology ; microbiology ; Shock, Septic ; epidemiology ; microbiology ; Streptococcal Infections ; epidemiology ; microbiology ; veterinary ; Streptococcus suis ; isolation & purification ; Swine ; Swine Diseases ; microbiology

Objective:To analyze the risk factors of bronchopulmonary dysplasia(BPD)in very preterm infants(VPI), and to provide scientific basis for the prevention and treatment of BPD in VPI.Methods:A prospective multicenter study was designed to collect the clinical data of VPI in department of neonatology of 28 hospitals in 7 regions from September 2019 to December 2020.According to the continuous oxygen dependence at 28 days after birth, VPI were divided into non BPD group and BPD group, and the risk factors of BPD in VPI were analyzed.Results:A total of 2 514 cases of VPI including 1 364 cases without BPD and 1 150 cases with BPD were enrolled.The incidence of BPD was 45.7%.The smaller the gestational age and weight, the higher the incidence of BPD( P<0.001). Compared with non BPD group, the average birth age, weight and cesarean section rate in BPD group were lower, and the incidence of male infants, small for gestational age and 5-minute apgar score≤7 were higher( P<0.01). In BPD group, the incidences of neonatal respiratory distress syndrome(NRDS), hemodynamically significant patent ductus arteriosus, retinopathy of prematurity, feeding intolerance, extrauterine growth restriction, grade Ⅲ~Ⅳ intracranial hemorrhage, anemia, early-onset and late-onset sepsis, nosocomial infection, parenteral nutrition-associated cholestasis were higher( P<0.05), the use of pulmonary surfactant(PS), postnatal hormone exposure, anemia and blood transfusion were also higher, and the time of invasive and non-invasive mechanical ventilation, oxygen use and total hospital stay were longer( P<0.001). The time of starting enteral nutrition, cumulative fasting days, days of reaching total enteral nutrition, days of continuous parenteral nutrition, days of reaching 110 kcal/(kg·d) total calorie, days of reaching 110 kcal/(kg·d) oral calorie were longer and the breastfeeding rate was lower in BPD group than those in non BPD group( P<0.001). The cumulative doses of amino acid and fat emulsion during the first week of hospitalization were higher in BPD group( P<0.001). Multivariate Logistic regression analysis showed that NRDS, invasive mechanical ventilation, age of reaching total enteral nutrition, anemia and blood transfusion were the independent risk factors for BPD in VPI, and older gestational age was the protective factor for BPD. Conclusion:Strengthening perinatal management, avoiding premature delivery and severe NRDS, shortening the time of invasive mechanical ventilation, paying attention to enteral nutrition management, reaching whole intestinal feeding as soon as possible, and strictly mastering the indications of blood transfusion are very important to reduce the incidence of BPD in VPI.

OBJECTIVE: To explore the interaction between reactive oxygen species (ROS) and ferroptosis in methylglyoxalinduced injury of mouse embryonic osteoblasts (MC3T3-E1 cells). METHODS: MC3T3-E1 cells were treated with methylglyoxal to establish a cell model of diabetic osteoporosis. CCK-8 assay was used to detect the viability of MC3T3-E1 cells. Rhodamine 123 staining followed by photofluorography was used to examine mitochondrial membrane potential (MMP). The intracellular ROS level was detected by 2', 7'-dichlorodihydrofluorescein diacetate staining with photofluorograph. Alkaline phosphatase (ALP) activity in the cells was detected using an ALP kit, the number of mineralized nodules was determined with alizarin red S staining, and the level of iron ions was detected using a detection kit. The expression level of glutathione peroxidase 4 (GPX4, a marker protein that inhibits ferroptosis) in the osteoblasts was determined using Western blotting. RESULTS: Treatment of MC3T3-E1 cells with 0.6 mmol/L methylglyoxal for 24 h significantly inhibited the expression level of GPX4 (P < 0.001), increased intracellular iron ion concentration, decreased the cell viability, increased the loss of MMP and intracellular ROS level, decreased both ALP activity and the number of mineralized nodules in the cells (P < 0.001). Co-treatment of MC3T3-E1 cells with 2 mmol/L N-acetylcysteine (NAC, a ROS scavenger) and methylglyoxal significantly increased the expression level of GPX4 (P < 0.01); co-treatment with 4 mmo/L FER-1 (a ferroptosis inhibitor) and methylglyoxal obviously decreased the intracellular ROS level (P < 0.001). Co-treatment of the cells either with NAC and methylglyoxal or with FER-1 and methylglyoxal attenuated methylglyoxal-induced injuries in the osteoblasts (P < 0.001). CONCLUSION The interaction between ROS and ferroptosis pathway plays an important role in methylglyoxal-induced injury of mouse embryonic osteoblasts.
Animals ; Cell Survival ; Ferroptosis ; Mice ; Osteoblasts ; Pyruvaldehyde/metabolism* ; Reactive Oxygen Species/metabolism*