Recurrent primary spontaneous pneumothorax in a large Chinese family: a clinical and genetic investigation / 中华医学杂志(英文版)

Background@#Primary spontaneous pneumothorax (PSP) is a common manifestation of Birt-Hogg-Dubé (BHD) syndrome, which is an autosomal dominant disorder caused by mutation of the folliculin (FLCN) gene. This study was established to investigate the mutation of the FLCN gene and the phenotype in a family with PSP.@*Methods@#We investigated the clinical and genetic characteristics of a large Chinese family with recurrent spontaneous pneumothorax. Genetic testing was performed by Sanger sequencing of the coding exons (4-14 exons) of the FLCN gene.@*Results@#Among ten affected members in a multi-generational PSP kindred, with a total of 18 episodes of spontaneous pneumothorax, the median age for the initial onset of pneumothorax was 42.5 years (interquartile range: 28.8-57.2 years). Chest computed tomography scan of the proband showed pulmonary cysts and pneumothorax. A novel nonsense mutation (c.1273C>T) in exon 11 of FLCN gene that leads to a pre-mature stop codon (p.Gln425*) was identified in the family. The genetic analysis confirmed the diagnosis of BHD syndrome in this family in the absence of skin lesions or renal tumors.@*Conclusions@#A novel nonsense mutation of FLCN gene was found in a large family with PSP in China. Our results expand the mutational spectrum of FLCN gene in patients with BHD syndrome.

Recurrent primary spontaneous pneumothorax in a large Chinese family: a clinical and genetic investigation / 中华医学杂志(英文版)

BACKGROUND@#Primary spontaneous pneumothorax (PSP) is a common manifestation of Birt-Hogg-Dubé (BHD) syndrome, which is an autosomal dominant disorder caused by mutation of the folliculin (FLCN) gene. This study was established to investigate the mutation of the FLCN gene and the phenotype in a family with PSP.@*METHODS@#We investigated the clinical and genetic characteristics of a large Chinese family with recurrent spontaneous pneumothorax. Genetic testing was performed by Sanger sequencing of the coding exons (4-14 exons) of the FLCN gene.@*RESULTS@#Among ten affected members in a multi-generational PSP kindred, with a total of 18 episodes of spontaneous pneumothorax, the median age for the initial onset of pneumothorax was 42.5 years (interquartile range: 28.8-57.2 years). Chest computed tomography scan of the proband showed pulmonary cysts and pneumothorax. A novel nonsense mutation (c.1273C>T) in exon 11 of FLCN gene that leads to a pre-mature stop codon (p.Gln425*) was identified in the family. The genetic analysis confirmed the diagnosis of BHD syndrome in this family in the absence of skin lesions or renal tumors.@*CONCLUSIONS@#A novel nonsense mutation of FLCN gene was found in a large family with PSP in China. Our results expand the mutational spectrum of FLCN gene in patients with BHD syndrome.

Comparison of Criminal Characteristics in Depression Patients and Schizophrenics with Homicide Behavior / 法医学杂志

OBJECTIVES@#To explore the criminal characteristics of forensic psychiatry expertise in depression patients and schizophrenics with homicide behavior.@*METHODS@#A total of 40 depression （depressive episode） patients and 50 schizophrenics with homicide behavior were randomly assigned into the study group and control group, respectively. Data of demographic and criminal characteristic of the two groups were collected by a self-designed questionnaire, and then were compared.@*RESULTS@#There were no statistical differences in age, education level and career between study and control groups （P>0.05）. Compared with the control group, the victims in the study group were mainly the patient's children and parents, and most offenders had suicidal behavior after homicide （70%）. In study group, the motives of crime were mainly extended suicide and indirect suicide, and most offenders had attempted suicide （85%） and diminished capacity of criminal responsibility （70%）, which in control group had no capacity of criminal responsibility （56%）. Except for criminal site, there were statistical differences in other criminal characteristics between two groups （P<0.05）.@*CONCLUSIONS@#There are different criminal characteristics between depression patients and schizophrenics with homicide behavior in forensic psychiatry, and these characteristics should be considered when these two diagnoses are distinguished in forensic psychiatry expertise.

Expressions of clinical significances of p-extracellular regulated kinase 1/2 and matrix metalloproteinase-9 in cervical squamous cell carcinoma / 中国医学科学院学报

<p><b>OBJECTIVE</b>To study the expressions and clinical significances of p-extracellular regulated kinase(P-ERK)1/2 and matrix metalloproteinase-9(MMP-9)in cervical squamous cell carcinoma.</p><p><b>METHODS</b>The expressions of P-ERK1/2 and MMP-9 in 30 cases with chronic cervicitis, 45 cases with cervical intraepithelial neoplasia (CIN), and 58 cases with cervical squamous cell carcinoma were detected by immunohistochemical method.</p><p><b>RESULTS</b>The positive rates of P-ERK1/2 and MMP-9 in chronic cervicitis, CIN, and cervical squamous cell carcinoma were 0 and 0, 28.9% and 24.4%, 77.6% and 65.5%, respectively, showing significant differences among these three groups (χ(2)= 54.393,p=0.003;χ(2)=40.968,p=0.005). The positive rates of P-ERK1/2 and MMP-9 in patients at clinical stages 2-3, at G3, with lymphatic metastasis, or with a tumor diameter greater than 4 cm were significantly higher than those at clinical stage 1(p=0.015,p=0.002), at G1-G2(p=0.013,p=0.017), without lymphatic metastasis (p=0.017,p=0.021), or with a tumor diameter less or equal than 4 cm in cervical squamous cell carcinoma(p=0.008,p=0.004). There was a positive correlation between P-ERK1/2 and MMP-9 in cervical squamous cell carcinoma (χ(2)=8.955,p=0.006).</p><p><b>CONCLUSIONS</b>The expressions of P-ERK1/2 and MMP-9 increase gradually with the progression of cervical squamous cell carcinoma. The over expressions of P-ERK1/2 and MMP-9 may promote the infiltration of cervical squamous cell carcinoma and lymphatic metastasis, druing which these two enzymes may exert their effects in a synergistic manner.</p>

Effects of Tongguan Capsule on post-myocardial infarction ventricular remodeling and cardiac function in rats / 中国结合医学杂志

<p><b>OBJECTIVE</b>To observe the effects of Tongguan Capsule (TGC) on post-myocardial infarction ventricular remodeling and heart function in rats.</p><p><b>METHODS</b>A rat model of acute myocardial infarction (AMI) was established by coronary ligation. Experimental rats were randomized to 4 groups including three model groups (Group A: captopril 5 mg/kg * day, n=7; Group B: TGC 10 g/kg * day, n=7; and Group C: placebo, n=8), and a sham-control group (Group D: blank control, n=6). Animals were treated for 4 weeks. The cardiac function of rats was assessed at the end of the experiment based on left ventricular ejection fraction (LVEF) and left ventricular short axis fractional shortening (LVFS) detected by colored echocardiography; meanwhile, the condition of ventricular remodeling was observed through the levels of left ventricular mass (LVM), plasma aldosterone (ALD), myocardial angiotensin II (Ang II) and myocardial collagen measurements.</p><p><b>RESULTS</b>At the end of the experiment, LVEF and LVFS in Group A and B were improved significantly, while those in Group C were unchanged, the LVEF in Group A, B, C, and D was 0.57+/-0.46, 0.61+/-0.08, 0.36+/-0.55 and 0.76+/-0.02, respectively; and their LVFS was 0.31+/-0.52, 0.34+/-0.04, 0.23+/-0.57 and 0.45+/-0.03, respectively. The difference was statistically significant when comparing the two indexes in Group A and B with those in Group C and D (P<0.05). LVM, levels of plasma ALD and myocardial Ang II were lower in Group A and B than in Group C, but a comparison between Group A and B showed an insignificant difference in lowering LVM and ALD, while the lowering of Ang II was more significant in Group B than in Group A (754.7 +/- 18.7 pg/mL vs 952.6+/-17.6 pg/mL, P<0.05). Morphological examination showed that in Group A and B the swollen myocardial cells had shrunk, with regularly arranged myocardial fibers and decreased collagen proliferation, but the improvements in Group B were more significant.</p><p><b>CONCLUSION</b>TGC could markedly improve the post-infarction ventricular remodeling and cardiac function in rats, showing that the efficacy was better than or equal to that of captopril.</p>