Clinical phenotype and gene mutation analysis of 12 patients with hereditary protein C deficiency in different families / 中华血液学杂志

Objective: To investigate the molecular pathogenesis and clinical features of unrelated 12 patients with inherited coagulation protein C (PC) deficiency in Chinese population. Methods: The PC activity (PC:A) and PC antigen (PC:Ag) were detected by chromogenic substrate and enzyme linked immunosorbent assay, respectively. The nine exons and flanking sequences of the protein C (PROC) gene were amplified by polymerase chain reaction with direct sequencing, and the suspected mutations were validated by reverse sequencing (clone sequencing for deletion mutations) . Results: The PC:A of the 12 probands decreased significantly, ranging from 18% to 55%, and the PC:Ag of the 10 probands decreased significantly. Eleven mutations were found, out of which four mutations [c.383G>A (p.Gly128Asp) , c.997G>A (p.Ala291Thr) , c.1318C>T (p.Arg398Cys) , and c.532G>C (p.Leu278Pro) ] were discovered for the first time. Six mutations were in the serine protease domain, four mutations were located in epidermal growth factor (EGF) -like domains, and one mutation was located in activation peptide. There were two deletion mutations (p.Met364Trp fsX15 and p.Lys192del) , and the rest were missense mutations. Mutations p.Phe181Val and p.Arg189Trp were identified in three unrelated families. All mutations may be inherited, and consanguineous marriages were reported in two families. Among the probands, nine cases had venous thrombosis, two cases had poor pregnancy manifestations, and one case had purpura. Conclusion: Patients with PC deficiency caused by PROC gene defects are prone to venous thrombosis, especially when there are other thrombotic factors present at the same time.

The relationship between the level of serum lipid and homocysteine with cerebral infarction / 预防医学

Objective To investigate the correlation between cerebral infarction and homocysteine (Hcy) level and atherosclerosis index (ASI) , and to provide reference for prevention and treatment of cerebral infarction. Methods 2525 patients hospitalized with cerebral infarction and 8151 healthy subjects were included in the study, the blood serum homocysteine and blood lipid levels were detected by enzymatic cycling and enzymatic method, and the ASI was calculated according to the results of blood lipid test. The risk factors of cerebral infarction were analyzed by logistic regression analysis model. Results The Physical examination Health Group male 4952, female 3199, average (45.65±10.77) years old, in the cerebral infarction Group male 1590 cases, female 935, average (65.47±12.16) years old. A total of 360 patients with high homocysteine were detected in the Health examination group, the detection rate was 4.42%, the cerebral infarction group detected 268 patients with high homocysteine, the detection rate was 10.61%, and the difference was statistically significant (P<0.01) . Logistic regression analysis showed that age (OR=1.147, 95%CI: 1.140~1.154), homocysteine (OR=1.022, 95% CI: 1.010 ~1.035) and total cholesterol (OR=2.815, 95% CI: 2.603 ~3.045) level, ASI (OR=1.914, 95%CI: 1.794~2.042) are the risk factors of cerebral infarction, women (OR=0.694, 95%CI: 0.606~0.697) are the protective factors for the occurrence of cerebral infarction. Conclusion Serum homocysteine and total cholesterol levels, ASI elevated can increase the risk of cerebral infarction, regular detection of serum homocysteine and lipid levels can help early detection and prevention of cerebral infarction.

Dynamic changes of reproductive hormone levels and related factors in old and middleaged men in health examination / 中华男科学杂志

Objective@#To investigate the dynamic changes of serum reproductive hormone levels in old and middleaged males in health examination and their correlation with age and lipid profile.@*METHODS@#This study included 4 333 men in health examination from January 2011 to December 2014. The men were aged from 40 to 85 years old and divided into seven fiveyearspan age groups. We determined the levels of serum testosterone (T), luteinizing hormone (LH), folliclestimulating hormone (FSH), estradiol (E2), progesterone (P), prolactin (PRL), total cholesterol (TC), triglyceride (TG), lowdensity lipoprotein cholesterol (LDLC), highdensity lipoprotein cholesterol (HDLC), and the testosterone secretion index (TSI = T/LH). We analyzed the obtained data using SPSS Pram, KruskalWallis H test, MannWhitney U test, exponential regression, and Spearman correlation analysis.@*RESULTS@#Statistically significant differences were found in LH, FSH, E2 and TSI among the seven age groups (P40 years old males. T and TSI were reduced in the 40－59 years old men from 2011 to 2014, and so was E2 in the 40－54 yr group. Lowlevel testosterone is closely related to dyslipidemia.

Study on mechanism of thyroid cytotoxicity of ammonium perchlorate / 中华劳动卫生职业病杂志

<p><b>OBJECTIVE</b>To investigate the mechanism of thyroid cytotoxicity mechanism of ammonium perchlorate (AP).</p><p><b>METHODS</b>Thyroid cells were cultured in vitro to a certain stage and then exposed to AP (0, 5, 10, 20, 40, and 60 mmol/L) in culture solution; the cultured cells and supernatant were collected. Cell viability was measured by MTT assay; cell apoptosis was determined by flow cytometry; the concentration of thyroglobulin was measured by enzyme-linked immunosorbent assay; the lactate dehydrogenase (LDH) activity, superoxide dismutase (SOD) activity, malondialdehyde (MDA) level, and so on were measured by colorimetry.</p><p><b>RESULTS</b>The cells exposed to 60 mmol/L AP for 12, 24, 48, and 72 h had cell viabilities of 74.93%, 42.26%, 2.66%, and 0.99%, respectively, and the cells exposed to 40 mmol/L AP for 24, 48, and 72 h had cell viabilities of 73.15%, 30.91%, and 3.03%, respectively, all significantly lower than that of the control group (100%)(P < 0.05 or P < 0.01). The overall apoptosis rate of all AP-exposed cells was significantly higher than that of the control group; the cells exposed to 20, 40, and 60 mmol/L AP had early apoptosis rates of 15.70%, 15.84%, and 16.96%, respectively, significantly higher than that of the control group (9.54%)(P < 0.05 or P < 0.01); the cells exposed to 60 mmol/L AP had a late apoptosis rate of 16.54%, significantly higher than that of the control group (6.11%)(P < 0.05 or P < 0.01). The cells exposed to 40 mmol/L AP had a significantly higher LDH activity than the control group (0.70 U/ml vs 0.55 U/ml, P < 0.01). The cells exposed to 5 mmol/L AP had a significantly higher MDA level than the control group (1.08 mmol/L vs 2.36 mmol/L, P < 0.05).</p><p><b>CONCLUSION</b>AP can markedly change the cell morphology and decrease the cell viability of thyroid cells, which may be because AP inhibits cell proliferation, induces cell apoptosis, and destroys cell membranes. However, AP does not result in significant oxidative damage to thyroid cells.</p>

Preliminary study of an intracavitary convex array probe for detecting distal extracranial internal carotid artery by transoral carotid ultrasonography / 南方医科大学学报

<p><b>OBJECTIVE</b>To explore the feasibility of using an intracavitary convex array probe for detecting the distal extracranial internal carotid artery (ICA) by transoral carotid ultrasonography (TOCU).</p><p><b>METHODS</b>Forty patients underwent examinations with bilateral ICA inspected with an intracavitary convex array probe by TOCU to observe the internal diameter, visible length, peak systolic velocity (PSV), end-diastolic velocity (EDV) and resistance index (RI).</p><p><b>RESULTS</b>Eight of the 40 patients were excluded from the observation for the presence of carotid plaques. The examination was terminated in two patients due to sensitive throat and severe pharyngeal reflex. The rest of the patients completed the examination of the internal diameter, visible length, PSV, EDV and RI, which showed no statistically significant differences among them (P>0.05).</p><p><b>CONCLUSION</b>Using intracavitary convex array probe, the distal extracranial ICA disease can be diagnosed with higher accuracy.</p>

Sevoflurane used for induction and maintenance of anaesthesia in children / 中南大学学报(医学版)

OBJECTIVE@#To observe the effect of sevoflurane on the induction and maintenance of anaesthesia in children, and to evaluate its safety and effectiveness.@*METHODS@#Forty child patients who conformed to the selection standard were operated under anaesthesia with intubation.Without premedicant, all the patients inhaled 100% oxygen(1L/min) and sevoflurane by mask, and escalated the concentration of sevoflurane (to the maximum concentration 7%) until the lash reflex disappeared, and the maintenance concentration was controlled under 4%. All the patients were intubated, together with vecuronium 0.1mg/kg.@*RESULTS@#With little tract excretion, the achievement ratio of induction by sevoflurane was 100%, and the children tolerated well. With stable hemodynajmics,1% approximately 4.0% maintenance concentration of sevoflurane during the operation showed effective anaesthesia, no decreased heart rate or blood pressure appeared, and all the patients' body temperature was normal.@*CONCLUSION@#Sevoflurane for children induction can bring fewer stimuli in the respiratory tract,less cardiac vascular inhibition and palinesthesia time. Anaesthesia in children induced by sevoflurane is safe and effective.