Novel subtype of obesity influencing the outcomes of sleeve gastrectomy:Familial aggregation of obesity

BACKGROUND Differences in the preoperative characteristics and weight loss outcomes after sleeve gastrectomy(SG)between patients with familial aggregation of obesity(FAO)and patients with sporadic obesity(SO)have not been elucidated.AIM To explore the impact of SG on weight loss and the alleviation of obesity-related comorbidities in individuals with FAO.METHODS A total of 193 patients with obesity who underwent SG were selected.Patients with FAO/SO were matched 1:1 by propensity score matching and were categorized into 4 groups based on the number of first-degree relatives with obesity(1 SO vs 1FAO,2SO vs 2FAO).The baseline characteristics,weight loss outcomes,prevalence of obesity-related comorbidities and incidence of major surgeryrelated complications were compared between groups.RESULTS We defined FAO as the presence of two or more first-degree relatives with obesity.Patients with FAO did not initially show significant differences in baseline data,short-term postoperative weight loss,or obesity-related comorbidities when compared to patients with SO preoperatively.However,distinctions between the two groups became evident at the two-year mark,with statistically significant differences in both percentage of total weight loss(P=0.006)and percentage of excess weight loss(P<0.001).The FAO group exhibited weaker remission of type 2 diabetes mellitus(T2DM)(P=0.031),hyperlipidemia(P=0.012),and non-alcoholic fatty liver disease(NAFLD)(P=0.003)as well as a lower incidence of acid reflux(P=0.038).CONCLUSION FAO patients is associated with decreased mid-to-long-term weight loss outcomes;the alleviation of T2DM,hyperlipidemia and NAFLD;and decreased incidence of acid reflux postoperatively.

Multiple lentigines syndrome with positive family history:a case report and review of the literature

Multiple lentigines syndrome is an autosomal dominant genetic disease,and its expressivity and penetrance are variable.It is also known as LEOPARD syndrome(LS).The genes known to be associated with LS include PTPN11,RAF1 and BRAF.The diagnosis of LS(OMIM 151100)is based on the observation of key features in the clinical background.LS caused by a germline PTPN11 mutation are characterized as multisystemic anomalies and variable marked phenotypes such as multiple lentigines and cafénoir spots,electrocardiographic conduction abnormalities,ocular hypertelorism/obstructive cardiomyopathy,pulmonary stenosis,abnormal genitalia,retardation of growth,and deafness.Phenotype overlap complicates clinical discrimination within RASopathies,making the diagnosis of LS more confusing and challenging.Besides,LS patients do not usually present with all these typical clinical features,increasing the possibility of underdiagnosis or misdiagnosis.Herein,we report a case of a 41-year-old male presenting with multiple dark pigmented macules all over the body,thoracic deformity and family history.And we followed up the patients.

Influence of Interrupted Childhood Biographies on Health Development: Evaluation of the Scientific Literature on the Example of Being Taken into Care*

Background: An interrupted family history, as is the case after taking someone into care, can complicate collecting family anamnesis data. In addition, the interrupted family history itself could be considered part of a person’s risk profile. Aim and methods: Literature analysis was conducted to examine whether there are scientific studies on health development after placement in out-of-home-care in order to recognise any existing medical characteristics that may be relevant for internal medical care. Results: There are few scientific publications on the health development of people after being placed in out-of-home-care. Direct reactions to the stress of being taken into custody include nausea and fever. However, effects that go beyond the acute situation and last into adulthood have also been described, such as AD(H)D, asthma, diabetes, cancer, hypertension and cardiovascular diseases (myocardial infarction, stroke), epilepsy and increased overall mortality in adulthood. Studies show that not only previous experience but also the stress of being taken into care is triggers for this. Conclusion: Information about a previous institutionalisation can hence be important for internal medical practice. The available scientific literature shows heterogeneous study methodology and no group of people with experience of out-of-home-placement has yet been scientifically accompanied for a long time period. Further studies on this could help to better weigh up the consequences of omitting and conducting an intervention for child/youth protection as well as to improve the medical care for this group of people.

The impact of family history of hepatocellular carcinoma on its patients' survival

BACKGROUND:Family history of hepatocellular carcinoma(HCC) has been identified as a risk factor for the development of the disease.The aim of this study is to evaluate the impact of such a history on HCC patients’ survival.METHODS:Data of all HCC patients(n=4532) managed at our center from 1989 to 2008 were prospectively collected.The patients were quizzed on their various characteristics including family HCC history.RESULTS:Totally 475(10.48%) patients had a family history of HCC.They presented the disease at a significantly earlier age(median 53 vs 59 years,P<0.0001) and at an earlier stage(the United Network for Organ Sharing staging system).They had significantly better liver function in terms of ChildPugh classification and serum albumin and bilirubin levels.Significantly more of them presented the disease without symptoms(44.0% vs 29.4%,P<0.0001).They also had significantly better overall survival under these specifications:patients in the whole study cohort,patients who had minor hepatectomy,patients with stage I disease,patients with stage II disease,and patients with stage III disease.CONCLUSIONS:Contrary to what is generally believed,we found in this study cohort that patients with a family history of HCC had better overall survival than those without such a history.We believe this was in part due to earlier diagnosis of the disease and better liver function in this group of patients.However,the effects of genetic factors on the risk of HCC cannot be overlooked and are yet to be identified.

Family history and disease outcomes in patients with Crohn's disease:A comparison between China and the United States

AIM To investigate the differences in family history of inflammatory bowel disease(IBD) and clinical outcomes among individuals with Crohn's disease(CD) residing in China and the United States.METHODS We performed a survey-based cross-sectional study of participants with CD recruited from China and the United States.We compared the prevalence of IBD family history and history of ileal involvement,CD-related surgeries and IBD medications in China and the United States,adjusting for potential confounders.RESULTS We recruited 49 participants from China and 145 from the United States.The prevalence of family history of IBD was significantly lower in China compared with the United States(China:4.1%,United States:39.3%).The three most commonly affected types of relatives were cousin,sibling,and parent in the United States compared with child and sibling in China.Ileal involvement(China:63.3%,United States:63.5%) and surgery for CD(China:51.0%,United States:49.7%) were nearly equivalent in the two countries.CONCLUSION The lower prevalence of familial clustering of IBD in China may suggest that the etiology of CD is less attributed to genetic background or a family-shared environment compared with the United States.Despite the potential difference in etiology,surgery and ileal involvement were similar in the two countries.Examining the changes in family history during the continuing rise in IBD may provide further insight into the etiology of CD.

Combined Effects of Family History of Cardiovascular Disease and Serum C-reactive Protein Level on the Risk of Stroke: A 9.2-year Prospective Study among Mongolians in China

Objective We aimed to evaluate the combined effect of a family history of cardiovascular disease（CVD） and high serum C‐reactive protein（CRP） on the stroke incidence in an Inner Mongolian population in China. Methods A prospective cohort study was conducted from June 2002 to July 2012, with 2,544 participants aged 20 years and over from Inner Mongolia, China. We categorized participants into four groups based on the family history of CVD and CRP levels. Results We adjusted for age; sex; smoking; drinking; hypertension; body mass index; waist circumference; and blood glucose, triglycerides, low‐density lipoprotein cholesterol, and high‐density lipoprotein cholesterol levels. Compared with the group with no family history of CVD/low CRP levels, the group with family history of CVD/high CRP levels had a hazard ratio（HR） of 1.78 [95% confidence interval（CI）, 1.03‐3.07; P = 0.039] of stroke, and an HR of 2.14（95% CI, 1.09‐4.20; P = 0.027） of ischemic stroke. The HRs of hemorrhagic stroke for the other three groups were not statistically significant（all P 〉 0.05）. Conclusion Participants with both a family history of CVD and high CRP levels had the highest stroke incidence, suggesting that high CRP levels may increase stroke risk, especially of ischemic stroke, among individuals with a family history of CVD.

Prevalence of Family History of Cancer among Gastric Cancer Patients at Brazilian National Cancer Institute

Background: Gastric cancer is the third most incident malignancy and the fifth leading cause of death in the world. In Brazil, it is the fourth most common tumour in men and the fifth in women. Familial aggregation of this tumour is being studied and discussed by experts. Aim: Determine the frequency of family history of cancer in patients with gastric cancer, suggesting familial aggregation or increased risk for hereditary cancer syndromes. Methods: This is a retrospective cross-sectional study carried out from January 2011 to March 2015 at the Department of Abdominal and Pelvic Surgery of the Brazilian National Cancer Institute (INCA). Data were collected from electronic medical records and analyzed using SPSS Statistics? version 20. Results: 873 patients with gastric adenocarcinoma were analyzed. A family history of cancer was reported by 451 patients (51.6%), which reported cancer in 878 relatives, of which 110 (12.6%), reported having more than three relatives with any type of cancer. The most prevalent malignancies among these relatives were gastric cancer (21.3%) and breast cancer (9.5%). Conclusion: Most of the patients had cancer family history, being gastric cancer the most common. The high percentage of cancer family history confirms the importance of collecting this information, whose lack reflects professional negligence, as family history study can serve as a low-cost tool, favoring prevention and early diagnosis, situations where morbidity and mortality are smaller, thus reducing health costs and assistance and preserving lives.

Family Health History and Behavioral Change among Undergraduate Students: A Mixed Methods Study

Background: We examined family health history (FHH) as a public health intervention tool in undergraduate students. We hypothesized that the FHH assignment would positively relate to students’ FHH knowledge and health and healthcare-seeking behavioral change. Methods: Health professional students’ (n = 103) pre/post-test surveys and research papers were collected in 2011-2012, from a mid-western and southern university in the United States of America, using mixed methods research. Results: The majority of students were aged 18 - 30, women, White, had healthcare access and health insurance, and awareness of the term FHH. Significant logistic regression relationships existed between: 1) helping students understand important strengths and weaknesses in their health and quality of life and outcomes of talking with family and doctors about FHH;and 2) improving students’ understanding of what they needed to do to maintain their health and the outcome statement “FHH tells you about inherited genes.” Key themes from the research papers included actions and FHH and proposed behavioral changes. Conclusions: Quantitative findings supported the relationship between students’ assignment evaluation and knowledge change, while qualitative findings supported relationships between assignment evaluation and knowledge and behavioral change. This study highlights regional differences in students’ FHH and the need to address family support barriers to behavioral change.

Analysis on Family History of Diabetes, Weight Gain during Pregnancy and Pre-pregnancy Body Mass Index on 82 Pregnant Women with Gestational Diabetes Mellitus

Objective:To investigate the effects of family history of diabetes mellitus,Gestational Weight Gain(GWG)and Body Mass Index(BMI)before pregnancy on Gestational Diabetes Mellitus(GDM).Method:82 pregnant women with GDM who were hospitalized and delivered in the obstetrics department of our hospital from September 2017 to September 2019 were selected as the observation group,and 60 pregnant women with normal glucose tolerance test in the same period were selected as the control group;The relationship between family history of diabetes,weight gain during pregnancy and pre-pregnancy Body Mass Index and GDM were analyzed.Results:The age,pre-pregnancy weight and weight gain during pregnancy were significantly higher in the observation group than in the control group(P<0.05),and the family history of diabetes and pre-pregnancy Body Mass Index were higher in the observation group than in the control group(P<0.05),and the differences were statistically significant.Conclusion:It is suggested that family history of diabetes is related to gestational diabetes mellitus.Excessive GWG growth during pregnancy and high Body Mass Index before pregnancy may increase the risk of gestational diabetes mellitus in pregnant women.

Studies on the History of Pangda Family in Markham

The famous female writer Ma Lihua in her well- known book The Red Mountain Ranges in East Tibet described the social status and influence of the Pangda family.She wrote:"The famous Pangda family in Tibetan pre-modern society stands on both

Identifying barriers to early diagnosis of breast cancer and perception of women in Malwa region of Punjab,India

Objective:The aim of present study is to identify the breast cancer screening barriers among the women with breast cancer of Malwa region of Punjab,India.The study was conducted at three government hospitals representing almost all districts of Malwa region.Methods:The quantitative research design was followed using empirical research methods.Study was carried out by one-to-one interview by the field investigator and research assistant.Total of 363 breast cancer patient has been interviewed through the scheduled questionnaire and results has been recorded for further analysis.In this study,five barriers are described namely as personal barriers,socio-cultural barriers,economic barriers,health­system barriers,and treatment barriers which contains various questions regarding barriers to breast cancer screening.Univariate analysis methods have been used for the analysis to access the socio-demographic profile of women.Data has been obtained with the help of 5-point liker scale.Binary logistic model was chosen.Results:Majority of participants were in the age groups 50-<60 years(3&6%,140/363)and>60 years(31.1%,112/363).Majority of these women(47.4%,171/363)were illiterate and most of them were housewives.The major barriers to breast cancer screening faced by most of the women were having no knowledge about screening services(90.9%,329/363),the importance of early diagnosis(90.9%,329/363),different screening methods(95.5%,347/363)and place of availing screening services(91.2%,330/363)misguided belief in God and fate(81.5%,295/363)and preferring duties than taking care of health(70.2%,254/363).Education qualification(odds ratio[OR]0.74,β'=-0.309,t=-5.357,P=0.000)and socioeconomic class(OR 1.43,β’=0.354,t=3.399,P=0.001)were found to be significant determinant of the barriers among women.Conclusion:The survey was conducted in the women between the age 40-60 years and as an outcome,the unawareness about screening services,fatalistic attitude,fear of being diagnosed with the cancer,low per capita income was found out significant factors that restricted the women for early check-up for the breast cancer.

Cancer risk in relatives of BRCA1/2 pathogenic variant carriers in a large series of unselected patients with breast cancer

Objective:The spectrum and risk of cancer in relatives of BRCA1/2 pathogenic variant carriers in the Chinese population have not been established.Methods:A family history of cancer in 9903 unselected breast cancer patients was retrospectively analyzed.BRCA1/2 status was determined for all patients and relative risks(RRs)were calculated to evaluate cancer risk in relatives of the patients.Results:The incidences of breast cancer in female relatives of BRCA1 carriers,BRCA2 carriers,and non-carriers were 33.0%,32.2%,and 7.7%,respectively.The corresponding incidences of ovarian cancer were 11.5%,2.4%,and 0.5%,respectively.The incidences of pancreatic cancer in male relatives of BRCA1 carriers,BRCA2 carriers,and non-carriers were 1.4%,2.7%,and 0.6%,respectively.The corresponding incidences of prostate cancer were 1.0%,2.1%,and 0.4%,respectively.The risks of breast and ovarian cancers in female relatives of BRCA1 and BRCA2 carriers were significantly higher than female relatives of non-carriers(BRCA1:RR=4.29,P<0.001 and RR=21.95,P<0.001;BRCA2:RR=4.19,P<0.001 and RR=4.65,P<0.001,respectively).Additionally,higher risks of pancreatic and prostate cancers were noted in male relatives of BRCA2 carriers than non-carriers(RR=4.34,P=0.001 and RR=4.86,P=0.001,respectively).Conclusions:Female relatives of BRCA1 and BRCA2 carriers are at increased risk for breast and ovarian cancers,and male relatives of BRCA2 carriers are at increased risk for pancreatic and prostate cancers.

Characteristics of Chinese Families in Which Children and Both Parents Are Diagnosed with Malignant Tumors:A Retrospective Study

Objective To characterize Chinese families in which both parents and at least one child are diagnosed with malignant diseases and provide reference for cancer screening or early detection in people whose both parents are diagnosed with cancer.Methods Medical records of all clients to the center of cancer screening and prevention of the National Cancer Center/Cancer Hospital between January 2008 and February 2018 were screened to select families in which both parents and at least one child were diagnosed with malignant diseases.The cancer profiles of fathers,mothers,sons and daughters,their age distribution at diagnosis,and similarity of cancers between two generations were analyzed.The proportions of each cancer in males and females of the cohort were compared with corresponding data from the National Cancer Center Registry of China(NCCRC)in 2013.Results Totally 13S families were identified from records of 33200 clients.Proportion of lung cancer in fathers(40/135,29.6%)and in mothers(38/135,28.1%)were higher than the national data(23.9%in males and 14.9%in females,respectively).The proportion of breast cancer in daughters(35/109,32.1%)was higher than that of mothers(14/135,10.4%)and the national data(17.1%),In 71 father-son pairs of cancer,46.5%(33/71)were of the same systematic disease,and 16.9%(12/71)were of the same cancer.These two indexes were 31.2%(n=34)and 10.1%(n=l 1),respectively in the 109 father-daughter pairs of cancer,36.6%(n=26)and 8.5%(n=6)respectively in the 71 mother-son pairs of cancer,and 31.2%(n=34)and 20.2%(n=20)respectively in the 109 mother-daughter pairs of cancer.Sons were more likely to suffer from cancers originated from the same system as father s cancer than daughters(χ^(2)=4.299,P<0.05),and daughters were more likely to suffer from the same cancer as their mother's cancer than sons(χ^(2)=4.506,P<0.05).The age(mean±standard deviation)of the daughters(52.4±12.7)and the sons(59.4±10.9)at diagnosis were significantly younger than the fathers(65.5±12.2)and the mothers(65.7±12.5)(all P<0.001)・Conclusions For people whose both parents are diagnosed as cancer,screening or early detection examinations should cover a full range of cancers rather than the cancers their father and mother have suffered,or cancers stemmed from the same system as their parents cancers.We suggest screening or early detection program for these special population start earlier than that for the general population,with emphasis on cancers derived from digestive system for males and women-specific cancers,i.e.,breast cancer,ovarian cancer,cervical cancer and uterine cancer for females.

Prostate cancer risk-associated genetic markers and their potential clinical utility

Prostate cancer （PCa） is one of the most common cancers among men in Western developed countries and its incidence has increased considerably in many other parts of the world, including China. The etiology of PCa is largely unknown but is thought to be multifactorial, where inherited genetics plays an important role. In this article, we first briefly review results from studies of familial aggregation and genetic susceptibility to PCa. We then recap key findings of rare and high-penetrance PCa susceptibility genes from linkage studies in PCa families. We devote a significant portion of this article to summarizing discoveries of common and Iow-penetrance PCa risk-associated single-nucleotide polymorphisms （SNPs） from genetic association studies in PCa cases and controls, especially those from genome-wide association studies （GWASs）. A strong focus of this article is to review the literature on the potential clinical utility of these implicated genetic markers. Most of these published studies described PCa risk estimation using a genetic score derived from multiple risk-associated SNPs and its utility in determining the need for prostate biopsy. Finally, we comment on the newly proposed concept of genetic score; the notion is to treat it as a marker for genetic predisposition, similar to family history, rather than a diagnostic marker to discriminate PCa patients from non-cancer patients. Available evidence to date suggests that genetic score is an objective and better measurement of inherited risk of PCa than family history. Another unique feature of this article is the inclusion of genetic association studies of PCa in Chinese and Japanese populations.

Risk factors for the occurrence of insulinoma: a case-control study

BACKGROUND: The etiology of insulinoma is poorly understood. Few studies investigated the possible roles of environmental factors and lifestyle in the pathogenesis of insulinoma. The aim of this study is to identify risk factors associated with occurrence of insulinoma in the Chinese population. METHODS: This study consisted of 196 patients with insulinoma and 233 controls. Demographic information of the patients and controls and risk factors of the disease were analyzed. Univariate and unconditional multivariable logistic regression analyses were made to estimate odds ratios (ORs) and possible risk factors. RESULTS: Approximately 68.88% (135/196) of the patients were from rural areas in contrast to 10.30% (24/233) of the controls (P【0.0001). This difference was confirmed by the multivariate analysis (OR=4.950; 95% CI: 2.928-8.370). Family history of pancreatic endocrine tumor (OR=16.754; 95% CI: 2.125-132.057) and other cancers (OR=2.360; 95% CI: 1.052-5.291) was also related to a high-risk population of insulinoma. CONCLUSION: Rural residents or people who have a family history of pancreatic endocrine tumor and other cancers are a high-risk population of insulinoma.

The power of a healthy lifestyle for cancer prevention:the example of colorectal cancer

Objective:We aimed to directly compare the estimated effects of adherence to a healthy lifestyle with those of risk predisposition according to known genetic variants affecting colorectal cancer(CRC)risk,to support effective risk communication for cancer prevention.Methods:A healthy lifestyle score(HLS)was derived from 5 lifestyle factors:smoking,alcohol consumption,diet,physical activity,and body adiposity.The association of lifestyle and polygenic risk score(PRS)(based on 140 CRC-associated risk loci)with CRC risk was assessed with multiple logistic regression and compared through the genetic risk equivalent(GRE),a novel approach providing an estimate of the effects of adherence to a healthy lifestyle in terms of percentile differences in PRS.Results:A higher HLS was associated with lower CRC risk(4,844 cases,3,964 controls).Those adhering to all 5 healthy lifestyle factors had a 62%(95%CI 54%-68%)lower CRC risk than those adhering to≤2 healthy lifestyle factors.The estimated effect of adherence to all 5 compared with≤2 healthy lifestyle factors was as strong as the effect of having a 79 percentile(GRE 79,95%CI 61-97)lower PRS.The association between a healthy lifestyle and CRC risk was independent of PRS level but was particularly pronounced among those with a family history of CRC in≥1 first-degree relative(P-interaction=0.0013).Conclusions:A healthy lifestyle was strongly inversely associated with CRC risk.The large GRE indicated that CRC risk determined by polygenic risk may be offset to a substantial extent by adherence to a healthy lifestyle.

Dyslipidemia and cardiovascular disease risk factors in patients with type 1 diabetes:A single-center experience

BACKGROUND Type 1 diabetes(T1D)contributes to altered lipid profiles and increases the risk of cardiovascular disease(CVD).Youth with T1D may have additional CVD risk factors within the first decade of diagnosis.AIM To examine risk factors for dyslipidemia in young subjects with T1D.METHODS Longitudinal and cross-sectional retrospective study of 170 young subjects with T1D(86 males;baseline mean age 12.2±5.6 years and hemoglobin A1c 8.4%±1.4%)were followed in a single tertiary diabetes center for a median duration of 15 years.Predictors for outcomes of lipid profiles at last visit(total cholesterol[TC],triglycerides[TGs],low-density lipoprotein-cholesterol[LDL-c],and highdensity lipoprotein-cholesterol[HDL-c])were analyzed by stepwise linear regression models.RESULTS At baseline,79.5%of the patients had at least one additional CVD risk factor(borderline dyslipidemia/dyslipidemia[37.5%],pre-hypertension/hypertension[27.6%],and overweight/obesity[16.5%])and 41.6%had multiple(≥2)CVD risk factors.A positive family history of at least one CVD risk factor in a first-degree relative was reported in 54.1%of the cohort.Predictors of elevated TC:family history of CVD(β[SE]=23.1[8.3],P=0.006);of elevated LDL-c:baseline diastolic blood pressure(DBP)(β[SE]=11.4[4.7],P=0.003)and family history of CVD(β[SE]=20.7[6.8],P=0.017);of elevated TGs:baseline DBP(β[SE]=23.8[9.1],P=0.010)and family history of CVD(β[SE]=31.0[13.1],P=0.020);and of low HDL-c levels:baseline DBP(β[SE]=4.8[2.1],P=0.022]).CONCLUSION Our findings suggest that elevated lipid profiles are associated with DBP and a positive family history of CVD.It is of utmost importance to prevent and control modifiable risk factors such as these,as early as childhood,given that inadequate glycemic control and elevation in blood pressure intensify the risk of dyslipidemia.

Replication of Prostate Cancer Risk Variants in a Danish Case-Control Association Study

Background: Prostate cancer is one of the main causes for cancer morbidity and mortality in Western countries. Recently, several single nucleotide polymorphisms (SNPs) associated with prostate cancer have been identified in genome-wide association studies and multiple variant models have been developed to predict prostate cancer risk. The association between genetic markers and clinico-pathological tumor variables has, however, been inconsistent. Methods and Materials: A total of 32 previously identified prostate cancer-associated risk SNPs were genotyped in 648 prostate cancer cases and 526 age-matched controls. Family history was obtained by questionnaire. Age at diagnosis, clinical tumor variables including pre- and postoperative PSA, Gleason score, and T stage were obtained from prospectively collected clinical data (Aarhus Prostate Cancer Study). The SNPs were genotyped using Sequenom and Taqman assays and associations between SNPs, prostate cancer risk, and clinico-pathological variables were assessed. Results: Seventeen SNPs were successfully replicated in our case-control study and the association estimates were consistent with previous reports. Four markers were excluded from further analysis due to linkage disequilibrium. The cumulative effect of having the disease-associated genotype at five SNPs (rs4430796, rs6983267, rs1859962, rs1447295 and rs16901979) increased the prostate cancer risk with odds ratio 6.02 (95% CI: 2.21 - 16.38;P = 1.0 × 10–4) in patients with any combination of ≥4 markers compared with patients without any of the five SNPs (P for trend = 1.0 × 10–4). Six markers were significantly associated with clinico-pathological variables: SNP rs2735839 (GG) at locus 19q13, which is in the KLK3 gene encoding PSA, was associated with high preoperative PSA (P = 0.04), low Gleason score (P = 0.01) and low T stage (P = 0.02). Variants rs5759167 (GG/GT) (22q13) and rs7679673 (CC/CA) (4q24) were correlated with low risk for biochemical relapse (P = 0.015 and P = 0.009, respectively), whereas rs6983267 (GG) (8q24) was significantly associated with biochemical recurrence (P = 0.045). In addition, variants rs6983267 (GG) and rs5759167 (GG/GT) were significantly associated with negative family history (P = 0.04 and P = 0.02, respectively). Conclusion: We replicated 17 previously identified prostate cancer-associated risk SNPs in a Danish case-control study and found a cumulative and significant association between five SNPs and prostate cancer. Overall, we noted significant associations between several prostate cancer-associated risk genotypes and less aggressive tumor variables, high level of PSA, and low risk for biochemical reccurrence.

Brugada syndrome associated with out-of-hospital cardiac arrest: A case report

BACKGROUND Brugada syndrome(BrS)is an inherited disease characterized by an electrocardiogram(ECG)with a coved-type ST-segment elevation in the right precordial leads(V1-V3),which predisposes to sudden cardiac death(SCD)due to polymorphic ventricular tachycardia or ventricular fibrillation in the absence of structural heart disease.We report the case of a 29-year-old man with out-ofhospital cardiac arrest.BrS is associated with a high incidence of SCD in adults,and increasing the awareness of BrS and prompt recognition of the Brugada ECG pattern can be lifesaving.CASE SUMMARY A 29-year-old man suffered from out-of-hospital cardiac arrest,and after defibrillation,his ECG demonstrated a coved-type elevated ST segment in V1 and V2.These findings were compatible with type 1 Brugada pattern,and ECG of his brother showed a type 2 Brugada pattern.The diagnosis was BrS,NYHF IV,multiple organ dysfunction syndrome,sepsis,and hypoxic ischemic encephalopathy.The patient had no arrhythmia episodes after discharge throughout a follow-up period of 36 mo.CONCLUSION Increasing awareness of BrS and prompt recognition of the Brugada ECG pattern can be lifesaving.

Primary myelofibrosis with thrombophilia as first symptom combined with thalassemia and Gilbert syndrome:A case report

BACKGROUND A 46-year-old Han man first had sigmoid sinus and transverse sinus venous thrombosis at the age of 42.At the age of 44,he once again developed thrombosis.Genetic testing showed heterozygous SERPINC1 mutation,bone marrow biopsy showed fibrosis grade 1(MF-1),and JAK2 V617F mutation was positive,accompanied by UGT1A1 mutation andβ-thalassemia gene mutation.CASE SUMMARY A 46-year-old Han man was first found to have sigmoid sinus and transverse sinus venous thrombosis at the age of 42 but had no individual or family thrombosis history,and he had been regularly taking warfarin anticoagulant therapy for a long period of time.At the age of 44,venous thrombosis reappeared in parts of the intrahepatic vein,main portal vein,splenic vein,and superior mesenteric vein,and his spleen was obviously enlarged.He had a history of jaundice for many years,and genetic testing revealed that he carried a heterozygous SERPINC1 mutation.Bone marrow biopsy showed multifocal fibrous tissue hyperplasia among trabeculae and focal fibrosis.He was positive for the JAK2 V617F mutation.At the same time,UGT1A1 andβ-thalassemia gene mutations existed,and a SERPINC1 mutation and UGT1A1 mutation were both found in his parents.CONCLUSION The patient in this case had thrombophilia as the primary symptom,JAK2V617-positive myeloproliferative neoplasm(MPN)was the main potential cause,and hereditary AT-III deficiency may have been one of multiple secondary causes.It remains to be determined whether UGT1A1 andβ-thalassemia gene mutations are related to thrombophilia.However,the clinical features of MPN in this patient were hidden,and the relevant clinical features of coexisting thalassemia and hereditary Gilbert syndrome,reported here for the first time domestically and abroad,were complicating factors,causing great difficulties for a clear diagnosis.Thus,when thrombophilia has been determined,it is necessary to screen the relevant latent problems overall.When the clinical features cannot be perfectly explained by one etiology,a relevant comprehensive examination should also be initiated from the perspective of multiple etiologies.