Identification and analysis of gene mutations of an neurofibromatosis type 1 patient / 中国医师杂志

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.

Study of two Chinese families affected with resistant ovarian syndrome resulted from novel mutations of FSHR gene / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To explore the genetic etiology for two Chinese families affected with hypergonadotropic amenorrhea and normal number of antral follicles.</p><p><b>METHODS</b>Peripheral 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.</p><p><b>RESULTS</b>Two 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.</p><p><b>CONCLUSION</b>Two 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.</p>

Expression of Jagged2/Notch3 signaling molecules in pulmonary hyper-tensive rats induced by monocrotaline / 中国病理生理杂志

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 .

Analysis of risk factors of pulmonary hypertension in healthy Chinese young males after rapid ascent to high altitude / 军事医学

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 .

Effect and mechanism of pulmonary artery pressure on exercise capacity after acute high altitude exposure / 军事医学

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 .

Change in ventricular repolarization among healthy young males exposed to high altitude / 军事医学

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(P0.05) 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 .

Common mutations of congenital adrenal hyperplasia are also the hotspots for new mutations / 南方医科大学学报

<p><b>OBJECTIVE</b>To discuss the genetic diagnosis of congenital adrenal hyperplasia (CAH) and investigate the resource of gene mutations in CAH.</p><p><b>METHOD</b>Enzymatic 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.</p><p><b>RESULTS</b>One 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.</p><p><b>CONCLUSION</b>The 9 common mutations of CAH are also the hotspots for new mutations.</p>