Objective To analyze the emergency-event in patients with obstructive sleep apnea-hypopnea syndrome( OSAHS), and to discuss the risk factors and preliminary strategies for prevention of emergency-event. Method A total of 257 OSAHS patients in Zhejiang Provincial Peoples Hospital, were enrolled from January 2000 to December 2009 for the retrospective study. Demographics of patients include age, sex,height, weight, related diseases, AHI and LSaO2 before operation , the way of anesthesia and operation,when and how the emergency-events happened, the way to cure and the results. Risk facts of emergency-event were analyzed by using univariate analysis and multiple logistic regression analysis. Results Of the 257patients, the incidents of emergency-event was 7.3%. The independent risk factors of emergency-event were general anesthesia, multiple level surgery in one time, BMI and AHI. Performing CPAP treatment before operation had a beneficial effect to the avoidance of emergency-event. Conclusions Emergency-event are more common in severe OSAHS patients, especially when they were operated under general anesthesia and multiple level surgery in one time. Performing CPAP treatment before operation had a beneficial effect to the avoidance of emergency-event.

Objective To investigate the effect and mechanism of pulmonary artery pressure on exercise capacity after acute high altitude exposure .Methods A total of 231 persons were recruited in this study , whose vital signs,SaO2 and physical working capacity ( PWC170 ) exercise capacity were collected .The difference between groups with normal and increased MPAP was observed .Results mean pulmonary artery pressure ( MPAP ) and right ventricle ( RV )-Tei index increased substantially after acute high altitude exposure ,while PWC170 was remarkably decreased .Furthermore,it was found that those whose MPAP increased(MPAP≥25 mmHg)had higher RV-Tei and lower PWC170(P<0.01) in acute high altitude exposure group .Correlation analysis suggested that there were different levels of correlation between MPAP, RV-Tei and PWC170(P<0.01).Conclusion After acute high altitude exposure , the increased pulmonary artery pressure is one of the main causes of lowered exercise capacity .The mechanism may be associated with the decrease of right heart functions .

Objective To explore mutation diagnosis and discuss the pathogenic and clinical characteristics of neurofibromatosis type 1 (NF1).Methods DNA sequencing combined with denaturing highperformance liquid chromatography (DHPLC) method was used to diagnose patients and parents.Results A new nonsense mutations c.503C ＞ G(p.S168 *) was identified.Conclusions NF1 is a rare autosomal dominant genetic disease.Most of them are caused by new mutations.Genetic diagnosis of sporadic cases is very important for treatment and the future generations.

Objective To investigate the risk factors of pulmonary hypertension (PH) after rapid ascent to high altitude in healthy young Chinese men .Methods A total of 552 non high altitude natives ( healthy young Chinese men ) were recruited in the study between June to August in 2012.The subjects were delivered to high altitude (3700 m) in 2 h by plane from low altitude (450 m).Demographic data including smoking , alcohol consumption , high altitude exposure histo-ry, body mass index (BMI) and age were collected within 24 h after arrival at 3700 m.Furthermore, the oxygen saturation ( SaO2 ) , blood pressure , heart rate , pulmonary artery systolic pressure were measured using the echocardiography system . Analysis of risk factors of PH was performed by logistic regressions .Results The incidence of PH was 23.10%.SaO2 was significantly lower in the higher-pulmonary artery systolic pressure group (higher-PASP)[(86.10 ±3.34)%] than that in the normal-PASP group [(89.09 ±2.65)%, P<0.01].Smoking, alcohol consumption, high altitude exposure history, BMI, age, systolic blood pressure , diastolic blood pressure , heart rate were not significantly different between the two groups mentioned above .Logistic regressions revealed that lower SaO 2 (OR:0.711,95% CI:0.647-0.782, P<0.01) was an independent risks factor of PH .Conclusion Low SaO2 is an independent risk factor of PH upon rapid arrival at 3700 m in healthy young Chinese men .However, smoking, alcohol consumption , high altitude exposure history , BMI, age, blood pressure and heart rate are not risk of PH .These observations will provide valuable clues to theoretical studies on PH and prevention of PH .

AIM:To study the expression of Jagged 2/Notch3 signaling molecules in pulmonary vascular wall of pulmonary hypertensive rats induced by monocrotaline .METHODS: SD rats were randomly divided into normal control group (C group,n=15), solvent control group (S group,n=15) and monocrotaline model groups (M group,n=15).The model of pulmonary hypertension was established by a single subcutaneous injection of monocrotaline (50 mg/kg).The rats in S group were given a single subcutaneous injection of the same dose of solvent .After 4 weeks, the pulmonary vascular remodeling was assessed by HE staining , and the mean pulmonary artery pressure ( mPAP) and right ventricular systolic pressure (RVSP) were determined by right heart catheterization .The expression of Jagged2/Notch3 /Hes5 molecules in the pulmonary vascular wall was detected by immunohistochemical method and real -time PCR.RESULTS:Compared with S group and C group , the percentage of medial wall thickness of smaller arteries in model group increased significantly (P<0.01).The levels of mPAP and RVSP in M group were significantly higher than those in S group and C groups (P<0.01).The results of real-time PCR showed that the expression of Jagged 2, Notch3 and Hes5 was significantly increased in M group compared with S group and C group .The data from immunohistochemical detection indicated that Jagged 2 mainly expressed in the intima of small lung artery , Notch3 and Hes5 mainly expressed in the medial smooth muscle cells .Com-pared with S group and C group , the expression of Jagged 2 and Notch3 was significantly increased in the lung small arteries of M group.CONCLUSION:The activation of Jagged2/Notch3 signaling pathway might play an important role in the for-mation of pulmonary hypertension .

BACKGROUND:Propagation phase contrast tomography can greatly improve the spatial resolution of chondrocytes and microvessels depending on the high colimation and high coherence performance of hard X-ray. OBJECTIVE: To detect the alteration of angioarchitecture after spinal cord injury in rats using propagation phase contrast tomography. METHODS: Eight male Sprague-Dawley rats were divided into two groups: in experimental group, an acute spinal cord injury model was induced in rats by the modified Alen’s method; in sham control group, rats were subjected to laminectomy. At 1 day after operation, normal and injured spinal cord segments were taken and treated with formaldehyde-methyl salicylate sequentialy for 48 hours. The segments were scanned by propagation phase contrast tomography in BL13W1 beamline experimental station of Shanghai Synchrotron Radiation Facility, China. Harvested data were analyzed by VGStudio Max 2.1 software for three-dimensional reconstruction and microvasculature quantitative analysis. RESULTS AND CONCLUSION:The propagation phase contrast tomography successfuly simulated the morphology of angioarchitecture folowing spinal cord injury. After acute spinal cord contusion, the destruction of nerve tissues was accompanied by severe microvasculature damage. Intramedulary tissue damage and loss of blood supply was spread from the central zone to the ends. Three-dimensional microvascular quantitative data showed that after spinal cord contusion, the number of microvessels and vascular perfusion volume drasticaly reduced (P < 0.01). These findings indicate that the propagation phase contrast tomography without angiography has potential as a new ultra high-resolution visualization technique for three-dimensional microvessel imaging and quantitative analysis.

Objective To investigate the change in ventricular repolarization at different altitudes and time courses among healthy young males .Methods A total of 143 healthy young men living on the plains were randomly selected as subjects.Their change in relative parameters of ventricular repolarization was measured by the same person at 500 m above sea level,24 hours their ascent to the plateau at an altitude of 3700 m was,after one week′s acclimatization on the 4400 m plateau and after 50 days acclimatization on the 4400 m plateau.Results Compared with 500 m,at 3700 m above sea level in 24 hours and after one week′s acclimatization on the 4400 m plateau,the heart rate(HR),systolic blood pressure(SBP), diastolic blood pressure(DBP), heart rate-corrected-QT (QTc)interval and heart rate-corrected T-peak to T-end (TpTec) on V3 lead were significantly increased(P<0.05).while oxygen saturation, QT interval,T-peak toT-end(TpTe)interval on V3 lead were significantly decreased ( P<0.05) .Compared with 500 m, oxygen saturation significantly decreased ( P<0.05),while SBP,DBP,QT interval,QTc interval,TpTe interval,TpTec interval did not change significantly (P>0.05) after 50 days acclimatization on the 4400 m plateau.Conclusion The ventricular repolarization duration of these young healthy men was significantly increased when they rapidly ascentded to high altitude .With prolonging residence at high alti-tude,the ventricular repolarization duration gradually returned to the level on the plains ,suggesting that the the ventricular repolarization duration will be restored to its level on the sea level by the adaptation and adjustment mechanism of the body .

OBJECTIVETo discuss the genetic diagnosis of congenital adrenal hyperplasia (CAH) and investigate the resource of gene mutations in CAH.

METHODEnzymatic methods with restriction endonucleases that specifically recognized the mutation sites were used to detect the gene mutations in patients with CAH and their relatives. Polymerase chain reaction and direct sequencing were used to identify the mutations in 21-hydroxylase gene, and short tandem repeat (STR) typing was used to determine the sources of the mutations.

RESULTSOne CAH patient had two known mutations in 21-hydroxylase gene, namely the I2g and I172N mutations. The former mutation was inherited from the biological mother and the latter was not inherited.

CONCLUSIONThe 9 common mutations of CAH are also the hotspots for new mutations.

Adrenal Hyperplasia, Congenital ; diagnosis ; genetics ; Gene Deletion ; Genotype ; Humans ; Mutation ; Point Mutation ; Polymerase Chain Reaction ; Steroid 21-Hydroxylase ; genetics

OBJECTIVETo explore the genetic etiology for two Chinese families affected with hypergonadotropic amenorrhea and normal number of antral follicles.

METHODSPeripheral venous blood samples were collected from the families for the extraction of genomic DNA. Mutations of FSHR and LHCGR genes were screened using PCR and Sanger sequencing. Suspected pathogenic mutations were verified in other members of the families. Bioinformatics software and NCBI were used to analyze the pathogenicity of the mutations.

RESULTSTwo previously unreported homozygous mutations, c.419delA and c.1510C>T of the FSHR gene were found in the probands of family I and II, respectively. Pedigree and bioinformatics analysis suggested that both mutations were pathogenic. Literature review suggested that both families were affected with resistant ovary syndrome rather than premature ovarian failure.

CONCLUSIONTwo novel mutations of the FSHR gene have been identified, which have enriched the spectrum of FSHR gene mutations and provided a basis for genetic counseling and direction for reproduction.

Adolescent ; Adult ; Asian Continental Ancestry Group ; genetics ; Base Sequence ; China ; Female ; Humans ; Male ; Molecular Sequence Data ; Mutation ; Ovarian Diseases ; diagnosis ; genetics ; Pedigree ; Receptors, FSH ; genetics ; Young Adult

OBJECTIVE: To summarize the genetic characteristics of 671 Chinese pedigrees affected with Duchenne/Becker muscular dystrophy (DMD/BMD). METHODS: Clinical data of the pedigrees were collected. Multiplex PCR, multiple ligation dependent probe amplification (MLPA), next generation sequencing (NGS), Sanger sequencing and long read sequencing were used to detect the variant of DMD gene in the probands and their mothers, and prenatal diagnosis was provided for high risk pregnant women. RESULTS: Among 178 pedigrees analyzed by multiplex PCR, 44 variants of the DMD gene were detected, with the genetic diagnosis attained in 110 pedigrees. Among 493 pedigrees analyzed by MLPA in combination with NGS or Sanger sequencing, 294 pathogenic/possible pathogenic variants were identified, among which 45 were unreported previously, and the genetic diagnosis attained in 484 pedigrees. Structural variants of the DMD gene were identified in two pedigrees by long-read sequencing. Among 444 probands, 341 have inherited the DMD gene variant from their mothers (76.8%). Among 390 women with a high-risk, 339 have opted to have natural pregnancy and 51 chose preimplantation genetic testing for monogenetic disease (PGT-M). The detection rate of neonatal patients and carriers following natural pregnancy was significantly higher than that for PGT-M. CONCLUSION Combined application of MLPA, NGS, Sanger sequencing and long-read sequencing is an effective strategy to detect DMD/BMD. PGT-M can effectively reduce the risk of fetuses. Above finding has expanded the spectrum of DMD gene variants and provided a basis for reproductive intervention for pregnancies with a high risk for DMD/BMD.
China ; Dystrophin/genetics* ; Exons ; Female ; Genetic Testing ; Humans ; Infant, Newborn ; Multiplex Polymerase Chain Reaction ; Muscular Dystrophy, Duchenne/genetics* ; Mutation ; Pedigree ; Pregnancy ; Prenatal Diagnosis