OBJECTIVE: To analyze variant of LDLR gene in a patient with familial hypercholesterolemia (FH) in order to provide a basis for the clinical diagnosis and genetic counseling. METHODS: A patient who had visited the Reproductive Medicine Center of the First Affiliated Hospital of Anhui Medical University in June 2020 was selected as the study subject. Clinical data of the patient was collected. Whole exome sequencing (WES) was applied to the patient. Candidate variant was verified by Sanger sequencing. Conservation of the variant site was analyzed by searching the UCSC database. RESULTS: The total cholesterol level of the patient was increased, especially low density lipoprotein cholesterol. A heterozygous c.2344A>T (p.Lys782*) variant was detected in the LDLR gene. Sanger sequencing confirmed that the variant was inherited from the father. CONCLUSION The heterozygous c.2344A>T (p.Lys782*) variant of the LDLR gene probably underlay the FH in this patient. Above finding has provided a basis for genetic counseling and prenatal diagnosis for this family.
Humans ; Cholesterol, LDL/genetics* ; Heterozygote ; Hyperlipoproteinemia Type II/genetics* ; Mutation ; Pedigree ; Phenotype ; Receptors, LDL/genetics*

Objective: To undersand the monitor of occupational hazards in the enterprises in the past 5 years, as well as the distribution of occupational disease hazards and their dynamic changes in their respective jurisdictions, for providing scientific basis for prevention and control of occupational diseases in relevant departments. Methods: Taking the method of cluster sampling, select the monitoring results of the occupational disease hazard factors commissioned by the Municipal Center for Disease Control and Prevention from 2014 to 2018 and the annual monitoring data of the network of the occupational hazard declaration system of the Safety Supervision Bureau, using chi-square test, trend Statistical analysis was performed by chi-square test or Fisher exact probability method. Results: There were 461 testing companies in the past 5 years, with a total of 15, 186 monitoring points and 43428 samples. The pass rate was 94.32% (14324/15186) . The pass rate was increasing year by year from 2014 to 2017 (P<0.05) ; The pass rate of various occupational disease hazards surveillance were greater than 90% except the rate of physical factors. In 2014, the qualified rate of physical factors was the lowest, which was 86.99% (1558/1791) ; the production rate of different production scale enterprises in 2018 was higher than that of 2014. From 2014 to 2018, the number of inspection enterprises and the number of inspection points of the joint-stock economy and state-owned economic enterprises are both high, 58 (10091 points) and 71 (1830 points) respectively; The qualified rate of state-owned economy and collective economy monitoring is high, 98.36% (1800/1830) and 100% (74/74) respectively. It had reached more than 95%; The enterprises tested mainly from the economic development zone and Guangling, respectively accounting for 34.27% (158/461) and 33.84% (156/461) of the total number of enterprises. Which followed by the Hanjiang, accounting for 23.21% of the total number of enterprises (107/461) ; The monitoring enterprises were mainly distributed in the manufacturing and power industries, which accounted for 85.25% (393/461) and 6.07% (28/461) of the total number of enterprises, respectively. Conclusion The monitoring rate of enterprises had been increasing year by year from 2014 to 2018. Noise was the main disease prevention and controlling factor in the area.In addition, micro-enterprises, individual economy and foreign-invested economy were the key targets for occupational health.

PURPOSE: Studies suggest that regular use of metformin may decrease cancer mortality. We investigated the association between diabetes medication use and cancer survival. MATERIALS AND METHODS: The current study includes 633 breast, 890 colorectal, 824 lung, and 543 gastric cancer cases identified from participants of two population-based cohort studies in Shanghai. Information on diabetes medication use was obtained by linking to electronic medical records. The associations between diabetes medication use (metformin, sulfonylureas, and insulin) and overall and cancer-specific survival were evaluated using time-dependent Cox proportional hazards models. RESULTS: After adjustment for clinical characteristics and treatment factors, use of metformin was associated with better overall survival among colorectal cancer patients (hazards ratio [HR], 0.55; 95% confidence interval [CI], 0.34 to 0.88) and for all four types of cancer combined (HR, 0.75; 95% CI, 0.57 to 0.98). Ever use of insulin was associated with worse survival for all cancer types combined (HR, 1.89; 95% CI, 1.57 to 2.29) and for the four cancer types individually. Similar associations were seen for diabetic patients. Sulfonylureas use was associated with worse overall survival for breast or gastric cancer (HR, 2.87; 95% CI, 1.22 to 6.80 and HR, 2.05; 95% CI, 1.09 to 3.84, respectively) among diabetic patients. Similar association patterns were observed between diabetes medication use and cancer-specific survival. CONCLUSION: Metformin was associated with improved survival among colorectal cancer cases, while insulin use was associated with worse survival among patients of four major cancers. Further investigation on the topic is needed given the potential translational impact of these findings.
Breast ; Cohort Studies ; Colorectal Neoplasms ; Electronic Health Records ; Humans ; Insulin ; Lung ; Metformin ; Mortality ; Proportional Hazards Models ; Stomach Neoplasms

Objective To analyze clinical characteristics of four cases with primary intraspinal lymphoma to achieve early diagnosis of the disease.Methods Clinical data including the clinical presentation,imaging features and pathological characteristics of four patients diagnosed as primary intraspinal lymphoma confirmed surgically and pathologically from February 2014 to February 2017 in Henan Provincial People's Hospital were analyzed retrospectively,and literatures were reviewed.Results The major clinical manifestations of the primary intraspinal lymphoma were as following:persistent or intermittent waist (back) pain,accompanied with both lower limb weakness,dysfunction of motion,loss or disappearance of sensation,incontinence,followed by an acute progressive neurological function deterioration.The imaging showed a single fusiform shape or irregular lump.The T1 WI signal was equal or slightly lower,and T2WI showed equal or slightly higher signal,and the general signal uniform;The lump showed mild or moderate homogeneous enhancement.The group of four cases were B cell non-Hodgkin lymphoma confirmed by pathological biopsy.Conclusions The clinical and imaging features of primary intraspinal lymphoma are lack of specificity and are easy to be misdiaguosed.The diagnosis is mainly based on pathological biopsy.

Objective To explore the clinical,imaging,genetic features in a case of fatal familial insomnia (FFI),and review related literatures.Methods A case of middle-aged woman diagnosed as frontotemporal dementia based on the preliminary manifestation of abnormal mental behavior was reported.The clinical features,imaging characteristics,electroencephalogram and polysomnogram of the patient were analyzed,and the blood samples from the patient and some of her familial members were collected for the sequencing of prion protein gene (PRNP).Results This patient was a middle-aged woman,whose clinical manifestations were abnormal mental behavior,rapid progressive dementia and intractable insomnia,abnormal night sleep behavior and laryngeal stridor.Brain MRI indicated frontotemporal lobe atrophy.Non-sleep disturbance was observed in polysomnography.The cerebrospinal fluid was negative for 14-3-3 protein.The results of PRNP sequencing revealed that the mutation of gene D178N/129M was detected.Conclusions Detection of PRNP plays an important role in the diagnosis of FFI.Patients suspected of FFI in clinic should be detected for genetic testing.Whether the frontotemporal lobe atrophy was caused by FFI or concurrent with FFI remains to be further verified.

Objective To investigate the frequency and location of cerebral microbleeds in cerebral autosomal dominant arteriopathy with subcortical infarct and leukoencephalopathy (CADASIL) to understand the imaging and clinical features of the disease.Methods Cranial magnetic resonance imaging and susceptibility-weighted imaging were assessed in seven symptomatic CADASIL patients in People's Hospital of Zhengzhou University from 2014 to 2017.Imaging features and clinical significance of these patients were analyzed retrospectively.Results The seven patients were diagnosed by Notch3 gene detection.Mutations were found in exon 11 in four cases,and in exon 4 in three cases.All the seven patients with CADASIL had cerebral microbleeds,the number of which was 108 (4-36).The number of cerebral microbleeds was found to be higher in cortico-subcortical region than in any other regions.One of CADASIL patients with cerebral microbleeds had intracerebral hemorrhage located in external capsule.The patient with intracerebral hemorrhage had hypertension and multiple cerebral microbleeds.Conclusions Cerebral microbleeds are common imaging characteristics in symptomatic CADASIL,most of which locate in cortico-subcortical region.Cerebral hemorrhage is one of the clinical manifestations of CADASIL patients.

Serum Cholyglycine (CG)is a main component of human bile acid,one of the conjuga-ted bile acids formed by the combination of bile acid and glycine is synthesized in the liver cells.Glycochol-ic acid (CG)as a clinical indicator for detecting hepatobiliary disorders,and the traditional index of liver
function test compared has greater advantages,its detection for intrahepatic cholestasis,liver disease and biliary system diseases diagnosis,treatment and prognosis analysis of pregnancy to provide an important ba-sis.

Objective To determine the clinicopathologic characteristics and prognostic factors that may be used to predict the poor outcome of patients with borderline ovarian tumors. Methods All cases with borderline ovarian tumors treated in the West China Second University Hospital from January 2001 to June 2007 were analyzed retrospectively for elinicopathologic features, treatment parameters and outcome of treatment. Univariate and multivariate analyses were used to assess independent prognostic factors using the logistic regression model. Results The median age of 234 patients was 40. 1 years with a range of 14 to 80 years. There were 101 (43.2%), 94 (40.2% ) , 19 (8.1% ), 12 (5.1%) , 8 (3.4%) cases of serous, mutinous, mixed, endometrioid and clear cell tumors, respectively. Out of 234 cases, 182 (77.8%) underwent laparotomy and 45 ( 19.2% ) underwent laparoscopy. Seven women underwent laparoconversion. Fertility sparing surgery was performed on 119 cases (50.9% ) and radical surgery was performed on 115 cases (49.1% ). Totally 161 (68.8% ) patients had stage Ⅰ , 19 ( 8.1% ) had stage Ⅱ, 54 ( 23.1% ) had stage Ⅲ, and none had stage Ⅳ disease. Sixty-four women received postoperative chemotherapy. The median follow-up was 40 months with a range of 8 to 78 months. Recurrence was found in 26 cases (11.1%) during follow-up, and no tumor-related death was reported. The logistic regression model showed that surgery procedure ( OR=2.304, P=0.024), cyst rupture ( OR=2.213, P=0.038 ), stage ( OR= 4.114, P<0.01 ), microinvasion ( OR=2.291, P=0.046) and peritoneal implants ( OR=2.101, P = 0.016) were the five independent prognostic factors affecting recurrence. Conclusions Although patients with borderline ovarian tumors have an excellent prognosis, the risk of recurrence remains in some patients. Emphasis should be put on these patients with high risk factors and preventive strategies should be taken to prevent their progression.

Objective To investigate the microsatellite instability(MSI) and monomorphism at microsatellite DNA BAT 26 locus in esophageal mucosa. Methods Genomic DNA extracted from tissues was amplified by PCR. PCR products were run on 9% denaturing polyacrylamidegel and stained with silver. Then MSI and monomorphism of microsatellite at BAT 26 locus in normal tissues at the incised edge and esophageal cancer tissues in 45 cases of esophageal caner were analyzed. Results All normal specimens showed no change in the length of MS DNA at BAT 26 locus. MSI was detected in 3 out of 45(6 7%) cases of esophageal cancer. Conclusion BAT 26 has complete monomorphism in genome of normal esophageal tissues, but is not sensitive to the identification of MSI.

Objective To detect the state of microsatellite instability (MSI) and investigate the relationship between MSI and clinical pathological parameters in esophageal cancer. Methods MSI was analyzed by PCR SSCP method. Results MSI was detected (22 22%) in 45 cases of esophageal cancer. Effects of MSI on clinical stage, pathological classification, lymph node metastasis, and invasion were not found. Conclusion MSI may be an early molecular pathway and play a certain role in the development of the esophageal cancer.