This paper examines the metaphorical part of“The Jade King:History of a Chinese Muslim Family”,Hoda’s novel,under the guidance of Newmark’s theory of metaphor.Newmark proposes six categories of metaphors,namely De...This paper examines the metaphorical part of“The Jade King:History of a Chinese Muslim Family”,Hoda’s novel,under the guidance of Newmark’s theory of metaphor.Newmark proposes six categories of metaphors,namely Dead Metaphor,ClichéMetaphor,Stock or Standard Metaphor,Adapted Metaphor,Recent Metaphor,Original Metaphor;and seven strategies of metaphor translation,including reproducing the same image in the target language,replacing the image in the source language with a standard target language image,translation of metaphor by simile,translation of metaphor(or simile)by simile plus sense,conversion of metaphor to sense,deletion and same metaphor combined with sense.They can provide a strong theoretical support for analyzing the expressions of metaphors in novels and their translation methods.By deeply analyzing the expressions of metaphor and its translation methods in novels,it not only helps to understand the metaphorical meaning and cultural connotation of the original works,but also helps to explore the cultural differences and challenges faced by English and Chinese bilingualism in the process of metaphor translation,thereby significantly improving the translation level and promoting the development of translation research.展开更多
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,R...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.展开更多
BACKGROUND Positive family history is a risk factor for development of colorectal cancer.Despite numerous studies on the topic,the absolute risk in patients with a positive family history remains unclear and therefore...BACKGROUND Positive family history is a risk factor for development of colorectal cancer.Despite numerous studies on the topic,the absolute risk in patients with a positive family history remains unclear and therefore studies are lacking to validate non-invasive screening methods in individuals with positive family history.AIM To quantify the risk of colorectal cancer in individuals with a positive family history.METHODS A comprehensive electronic literature search was performed using PubMed from January 1955 until November 2017,EMBASE from 1947 until 2018,and Cochrane Library without date restrictions.Two independent reviewers conducted study selection,data extraction and quality assessment.A meta-analysis of Mantel-Haenzel relative risks was performed using the random effects model.Newcastle-Ottawa scale was used to score the quality of selected papers.Funnel plot and Egger’s regression test was performed to detect publication bias.Subgroup analysis was performed comparing Asian and non-Asian studies.Sensitivity analyses were performed to rule out the effect of the timing of the study,overall quality,the main outcome and the effect of each individual study in overall result.RESULTS Forty-six out of 3390 studies,including 906981 patients were included in the final analysis.41 of the included studies were case-control and 5 were cohort.A positive family history of colorectal cancer in first-degree relatives was associated with significantly increased risk of colorectal cancer with a relative risk of 1.87(95%CI:1.68-2.09;P<0.00001).Cochrane Q test was significant(P<0.00001,I2=90%).Egger’s regression test showed asymmetry in the funnel plot and therefore the Trim and Fill method was used which confirmed the validity of the results.There was no difference between Asian versus non-Asian studies.Results remained robust in sensitivity analyses.CONCLUSION Individuals with a positive family history of colorectal cancer are 1.87 times more likely to develop colorectal cancer.Screening guidelines should pay specific attention to individuals with positive family history and further studies need to be done on validating current screening methods or developing new modalities in this high-risk population.展开更多
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’ su...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.展开更多
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. Meth...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.展开更多
AIM:To compare the gastric cancer(GC) patients by their family history with gastric and non-GC.METHODS:Positive family histories within seconddegree relatives and clinicopathological features were obtained for 256 pat...AIM:To compare the gastric cancer(GC) patients by their family history with gastric and non-GC.METHODS:Positive family histories within seconddegree relatives and clinicopathological features were obtained for 256 patients.RESULTS:Of the 256 probands,112(76 male,36 female) were incorporated into familial GC(FGC) group:at least two GC members;144(98 male,46 female) were included in the non-FGC group(relatives only affected with non-GCs).Of 399 tumors in relatives(181 from FGC against 212 from non-FGC),GC was the most frequent,followed by esophageal,hepatocellular,and colorectal cancer.Nasopharyngeal cancer was next to lung cancer but prior to breast and urogenital cancers.Most affected members aggregated within first-degree relatives(FGC:66 siblings,48 fathers,31 mothers,four offspring;non-FGC:56 fathers,55 siblings,43 mothers,and 15 offspring).The ratio of males to females in affected first-degree relatives was usually higher in male probands.Paternal history of GC was a slight risk for GC in males(OR = 1.19,95% CI:0.53-2.69),while risk of GC by maternal history of non-GCs was increased in females(OR = 0.46,95% CI:0.22-0.97).Diffuse-GC was the major histological type in all subgroups.Difference in tumor sites between thetwo groups was derived from an excess of upper sites in non-FGC female probands.CONCLUSION:Distribution of associated non-GCs in a family history of GC may vary with geographic areas.GC may have different genetic and/or environmental etiology in different families,and a certain subtype may be inherited in a female-influenced fashion.展开更多
Aim: This study aims to investigate the relationships among family history of cancer, physician’s advice on quitting, and motivation to quit among smokers in the United State. Method: This study using data collected ...Aim: This study aims to investigate the relationships among family history of cancer, physician’s advice on quitting, and motivation to quit among smokers in the United State. Method: This study using data collected by the 2010 National Health Interview Survey. Five separate sets of multivariate logistic regression models were used to investigate the three-direction relationships among: 1) effect of family cancer history on medical doctors’ advice on quitting, 2) effect of family cancer history on motivation to quit smoking, 3) effect of doctor’s advice on smokers’ motivation to quit. Results: Smoking cessation advice given by physicians has a significant effect on both smoker’s motivation and action taken to quit smoking, but a large proportion of the smokers with family cancer history did not receive doctor’s advice on quitting. Conclusion: Family history of lung cancer or other cancer types was not found to be associated with increased motivation to quit smoking. This is at least partly due to poor collection of family cancer history by physicians. This may be ameliorated by promoting the use of a recently developed self-administered tool for the collection of patient data on family cancer history in primary care settings.展开更多
AIM: To evaluate the relationship between a positive family history of primary liver cancer and hepatocellular carcinoma (HCC) development in Korean HCC patients. METHODS: We studied a total of 2242 patients diagnosed...AIM: To evaluate the relationship between a positive family history of primary liver cancer and hepatocellular carcinoma (HCC) development in Korean HCC patients. METHODS: We studied a total of 2242 patients diagnosed with HCC between January 1990 and July 2008, whose family history of primary liver cancer was clearly described in the medical records.positive family history of HCC and 2077 (92.6%) did not. The male to female ratio was 3.6:1, and the major causes of HCC were chronic hepatitis B virus (HBV) infection in 75.1%, chronic hepatitis C virus infection in 13.2% and alcohol in 3.1%. The median ages at diag- nosis in the positiveand negative-history groups were 52 years (range: 29-79 years) and 57 years (range: 18-89 years), respectively (P < 0.0001). Furthermore, among 1713 HCC patients with HBV infection, the number of patients under 45 years of age out of 136 patients with positive family history was 26 (19.1%), whereas those out of 1577 patients with negative family history was 197 (12.5%), suggesting that a positive family history may be associated with earlier development of HCC in the Korean population (P = 0.0028). CONCLUSION: More intensive surveillance maybe recommended to those with a positive family history of HCC for earlier diagnosis and proper management especially when HBV infection is present.展开更多
AIM: To assess the late outcome of teen-agers with a previous history of recurrent abdominal pain (RAP) or irritable bowel syndrome (IBS). METHODS: A group of 67 children with RAP referred to the department from...AIM: To assess the late outcome of teen-agers with a previous history of recurrent abdominal pain (RAP) or irritable bowel syndrome (IBS). METHODS: A group of 67 children with RAP referred to the department from January 1986 to December 1995 was followed up between 5 and 13 years after the initial diagnosis by means of a structured telephone interview. We hypothesized that those patients with persistent adult IBS-like symptoms would be significantly more likely to report a family history oflBS in comparison with adults with no persistent abdominal complaint. RESULTS: Out of the 52 trackable subjects, 15 were found to present IBS-like symptoms at follow-up (29%) whereas the majority (37 subjects) did not. Subjects with IBS-like symptoms were almost three times more likely to present at least one sibling with similar symptoms compared to subjects not complaining (40.0% vs 16.0%), respectively (P 〈 0.05 at Student t test). Subjects with IBS-like symptoms also reported a higher prevalence of extra-intestinal symptoms, such as back pain, fibromyalgia, headache, fatigue and sleep disturbances. CONCLUSION: The study confirms previous observations indicating that pediatric RAP can predict later development of IBS. The latter appears to be greatly influenced by intrafamilial aggregation of symptoms, possibly through the learning of a specific illness behavior.展开更多
Objective:The aim of the study was to investigate the influence of gastric cancer family history in the gastric cancer (GC) patients. Methods: Gastric cancer family histories within second degree relatives and clinico...Objective:The aim of the study was to investigate the influence of gastric cancer family history in the gastric cancer (GC) patients. Methods: Gastric cancer family histories within second degree relatives and clinicopathological features were obtained for 497 patients. Results:Of the 497 probands,235 probands were incorporated into familial gastric cancer (FGC) group (there were at least two GC members in the family); 262 probands were included in the non-FGC group (relatives only affected with non-GCs). Of 614 tumors in relatives,GC was the most frequent,followed by lung cancer,esophageal cancer,hepatocellular cancer,colorectal cancer,urogenital cancer,breast cancer,and pancreatic cancer. Most affected members aggregated within first-degree relatives. The ratio of males to females in affected first-degree relatives was usually higher in male probands. Paternal history of GC was a strong risk for GC in males,while risk of GC by maternal history of GCs was increased in females. Difference in tumor histological types between the two groups was derived from an excess of diffuse GC in non-FGC male probands. The lower site was the most frequent tumor location in all subgroups. Conclusion:Distribution of associated non-GCs in a family history of GC may vary with geographic areas. GC may have different genetic and/or environmental etiology in different families,and a certain subtype may be inherited in a male-influenced fashion.展开更多
AIM: TO investigate the correlation of depressed-type (0-IIc) colorectal neoplasm and family history of firstdegree relatives (FDR) with colorectal cancer (CRC). METHODS: This cross-sectional study was conduct...AIM: TO investigate the correlation of depressed-type (0-IIc) colorectal neoplasm and family history of firstdegree relatives (FDR) with colorectal cancer (CRC). METHODS: This cross-sectional study was conducted from June 2000 to October 2002 at National Cancer Center Hospital East. Eligible patients undergoing initial total colonoscopy were surveyed regarding family history of CRC among FDR by a questionnaire prior to colonoscopic examinations. All endoscopic findings during colonoscopy were recorded and the macroscopic classification of the early stage neoplasm/cancer was classified into two types (0-IIc vs non 0-IIc). Odds ratios (OR) and 95% confidence intervals (CI) were calculated by univariate and multivariate logistic regression to estimate the association between macroscopic features and clinicopathological data including gender, age, and family history of FDR with CRC. RESULTS: The OR of an association between family history of FDR with CRC and overall early stage neoplasm adjusted by gender and age was 1.85 (95% CI: 1.31-2.61, P = 0.0004), that for non 0-IIc neoplasm was 1.71 (95% CI: 1.22-2.41, P = 0.0017) and for 0-IIc colorectal neoplasm was 2.78 (95% CI: 1.49-5.16, P = 0.0031). CONCLUSION: Our study shows a significant association between a family history of FDR with CRC and 0-IIc colorectal neoplasm. When patients with a family history of FDR with CRC undergo colonoscopy, colonoscopists should check carefully for not only polypoid, but also depressed-type (0-IIc) lesions.展开更多
Study Objectives: This study evaluated how a family history of diabetes moderates the effects of diabetes on anxiety, depression, as well as sleep quality. Design: Outpatients with diabetes responded to questionnaires...Study Objectives: This study evaluated how a family history of diabetes moderates the effects of diabetes on anxiety, depression, as well as sleep quality. Design: Outpatients with diabetes responded to questionnaires on family history of diabetes, sleep quality, anxiety and depression. Participants: Participants were recruited from the Captain James A. Lovell Federal Health Care Center in North Chicago, Illinois. All participants were adult males (n = 33) with ages ranging from 50 to 88 and were diagnosed with type 1 or type 2 diabetes. There were 8 subjects without a family history of diabetes and 25 subjects with family history of diabetes. Results: In comparison to those with a family history of diabetes, patients without a family history of diabetes were found to experience a poorer quality of sleep, evaluated on the Pittsburgh Sleep Quality Index [PSQI] (t = 3.62, p = 0.001). Anxiety, depression, family history and the Interaction of family history with depression were found to be significant predictors of sleep quality (p < 0.05). Conclusions: Patients without a family history of diabetes exhibit more anxiety and depression and have more sleep problems than those patients who have a family history of diabetes. Presumably a family history of diabetes better informs and prepares these patients for the many unique problems associated with diabetes thereby decreasing disease related anxiety and depression.展开更多
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...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.展开更多
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 ...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.展开更多
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...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.展开更多
Background: Acquisition of family medical history (FMH) is emphasized as a part of obtaining a complete medical history, but whether FMH is consistently documented and utilized in primary care, as well as how it can a...Background: Acquisition of family medical history (FMH) is emphasized as a part of obtaining a complete medical history, but whether FMH is consistently documented and utilized in primary care, as well as how it can affect patient care in this context, remains unclear. Thus, the objectives of this study were to determine: 1) if FMH is regularly acquired in a representative primary care practice (the Queen’s Family Health Team, QFHT);2) what is included in the FMH obtained;3) what the utility of FMH is with regards to patient management in primary care;and 4) to utilize healthcare practitioners’ perspectives in order to elucidate any findings regarding the acquisition and utility of FMH at the QFHT. Methods: Patients were interviewed in order to obtain their FMH. For each patient, the FMH obtained was compared to the FMH documented in the patient’s record to determine the record’s completeness. Each patient’s FMH was analyzed for significant history of coronary artery disease (CAD), diabetes mellitus type II (DMII), substance abuse (SA) and colorectal cancer (CRC). Participants were patients scheduled for appointments at the QFHT between May and July 2011. Any patient of the QFHT older than 25 years was eligible to participate. Clinical staff of the QFHT completed an online questionnaire to determine healthcare practitioners’ perspectives regarding the acquisition and utility of FMH. Results: 83 patients participated in the study. Participants ranged in age from 25 - 86 years (median: 63 years);69% were female. FMH present in patients’ records was often either incomplete (42% of charts reviewed) or not documented at all (51% of charts reviewed). Knowledge of FMH can affect patient management in primary care for the diseases assessed (CAD, DMII, SA and CRC). HCP do consider FMH to be important in clinical practice and 86% of respondents stated that they regularly inquired about patients’ FMH. Interpretation: Despite the belief by HCP that FMH is important, there is a disparity between this belief and their practices regarding its documentation and utilization. Finally, analysis of the FMH of the representative population studied shows that information commonly missing in patients’ FMH can affect patient management at a primary care level.展开更多
Introduction: Rapid and appropriate family risk assessment and triage of patients are essential for patients presenting to a symptomatic breast unit and international criteria for review are well established. Family H...Introduction: Rapid and appropriate family risk assessment and triage of patients are essential for patients presenting to a symptomatic breast unit and international criteria for review are well established. Family History Risk Assessment Software (FaHRAS) is a computerized program, involving different modalities of risk assessment, which is available but has not been widely assessed. Aims: This study evaluated the FaHRAS software scoring of family history risk. Its analysis was compared to multi-tool family history risk assessment models in a cohort of 353 patients on a historic family history waiting list. Methods: A recent published pilot study assessed and categorized family history risk in 353 patients on a historic family history waiting list, according to international guidelines including NICE criteria, Gail and IBIS risk estimates. The current study involved a reassessment of all 353 patients using the FaHRAS software program to determine its accuracy and ease of use. Patient demographics and time required to perform the analysis were documented. Results: FaHRAS identified 73 (20.7%) patients had an IBIS family history score of 17% or greater and 89 (25.2%) patients met the NICE guidelines criteria for management beyond primary care. In the previous study, this was 79 (22.4%) and 112 (31.7%) respectively. Using the largest denominator (NICE guidelines), 264/353 (74.8%) patients could be discharged to primary care using FaHRAS. Using this largest denominator, FaHRAS also identified a total of 28 (7.9%) patients requiring referral to tertiary care while the previous study identified 3 (0.8%). Conclusion: This is one of the first studies to validate FaHRAS, which is accurate and easy to use. FaHRAS system can enable clinicians to become more efficient gatekeepers to genetic services.展开更多
Background: The high consanguinity in Middle East increases the risk of genetic diseases, including primary immunodeficiency diseases (PID). Objectives: This study was aimed at determining the rate of positive family ...Background: The high consanguinity in Middle East increases the risk of genetic diseases, including primary immunodeficiency diseases (PID). Objectives: This study was aimed at determining the rate of positive family history of PID, the overall rate and type of consanguinity, and their effects on delay age during diagnosis of PID. Materials and methods: A retrospective analysis was conducted on 131 children with PID (aged 0 - 14 years) managed at Hamad General Hospital during 1998-2012. Results: Data on 131 patients (75 males & 56 females) of 82 families was analyzed. The most common phenotype of PID was predominantly antibody deficiency (23.7%). The onset age was 24.01 months and delay age 18.7 months. Family history of PID was 66.4% (38.7% in predominantly antibody deficiency and 100% in diseases of immune dysregulation). Positive family history significantly (p = 0.004) reduced the delay age of PID diagnosis by 52.9%. The consanguinity rate was 61.1% (32.3% in the predominantly antibody ID to 96% in the phagocyte defects group), where paternal cousin ranked the highest type (57.5%). Conclusions: This study indicates that family history is common in children with PID and helpful in reducing the delay age. Consanguinity among families of affected children is also high (higher than healthy population). Paternal parallel cousin marriages are the most common type of consanguinity. For a practicing physician, family history is a simple and useful tool when suspecting PID in children. Primary prevention of PID in Middle East communities should consider consanguinity reduction through public awareness and education and premarital counseling programs.展开更多
Prevalent diabetes is at high risk for cardiovascular diseases and has a high familial inheritance. However, little is known whether a non-diabetic subject with a family history of diabetes is at high risk for vascula...Prevalent diabetes is at high risk for cardiovascular diseases and has a high familial inheritance. However, little is known whether a non-diabetic subject with a family history of diabetes is at high risk for vascular damage or not. The purpose of this study was to evaluate the association between a family history of diabetes and arterial stiffness in adult non-diabetic Japanese population. We analyzed eligible 787 non-diabetic subjects (502 men and 285 women) aged 35-69 years who enrolled in the baseline survey of a cohort study in Tokushima Prefecture, Japan and who underwent a brachial-ankle pulse wave velocity (ba-PWV) measurement. Information on individual life-style characteristics including medical history and treatment for diseases and a first-degree family history of diabetes was obtained through a structured self-administered questionnaire. Analysis of covariance and logistic regression analyses were used to evaluate the association between a family history of diabetes and ba-PWV. We found no differences in age-and-systolic blood pressure-adjusted and multivariate-adjusted means of ba-PWVs between subjects of both sexes with and without a family history of diabetes. Logistic regression analyses including both sexes also revealed that subjects with a family history of diabetes showed no differences in age-and-systolic blood pressure-adjusted and multivariate-adjusted odds ratios for high ba-PWV compared to those without that trait. Our results suggest that a family history of diabetes itself is not associated with arterial stiffness in adult non-diabetic Japanese population.展开更多
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 ...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.展开更多
文摘This paper examines the metaphorical part of“The Jade King:History of a Chinese Muslim Family”,Hoda’s novel,under the guidance of Newmark’s theory of metaphor.Newmark proposes six categories of metaphors,namely Dead Metaphor,ClichéMetaphor,Stock or Standard Metaphor,Adapted Metaphor,Recent Metaphor,Original Metaphor;and seven strategies of metaphor translation,including reproducing the same image in the target language,replacing the image in the source language with a standard target language image,translation of metaphor by simile,translation of metaphor(or simile)by simile plus sense,conversion of metaphor to sense,deletion and same metaphor combined with sense.They can provide a strong theoretical support for analyzing the expressions of metaphors in novels and their translation methods.By deeply analyzing the expressions of metaphor and its translation methods in novels,it not only helps to understand the metaphorical meaning and cultural connotation of the original works,but also helps to explore the cultural differences and challenges faced by English and Chinese bilingualism in the process of metaphor translation,thereby significantly improving the translation level and promoting the development of translation research.
文摘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.
文摘BACKGROUND Positive family history is a risk factor for development of colorectal cancer.Despite numerous studies on the topic,the absolute risk in patients with a positive family history remains unclear and therefore studies are lacking to validate non-invasive screening methods in individuals with positive family history.AIM To quantify the risk of colorectal cancer in individuals with a positive family history.METHODS A comprehensive electronic literature search was performed using PubMed from January 1955 until November 2017,EMBASE from 1947 until 2018,and Cochrane Library without date restrictions.Two independent reviewers conducted study selection,data extraction and quality assessment.A meta-analysis of Mantel-Haenzel relative risks was performed using the random effects model.Newcastle-Ottawa scale was used to score the quality of selected papers.Funnel plot and Egger’s regression test was performed to detect publication bias.Subgroup analysis was performed comparing Asian and non-Asian studies.Sensitivity analyses were performed to rule out the effect of the timing of the study,overall quality,the main outcome and the effect of each individual study in overall result.RESULTS Forty-six out of 3390 studies,including 906981 patients were included in the final analysis.41 of the included studies were case-control and 5 were cohort.A positive family history of colorectal cancer in first-degree relatives was associated with significantly increased risk of colorectal cancer with a relative risk of 1.87(95%CI:1.68-2.09;P<0.00001).Cochrane Q test was significant(P<0.00001,I2=90%).Egger’s regression test showed asymmetry in the funnel plot and therefore the Trim and Fill method was used which confirmed the validity of the results.There was no difference between Asian versus non-Asian studies.Results remained robust in sensitivity analyses.CONCLUSION Individuals with a positive family history of colorectal cancer are 1.87 times more likely to develop colorectal cancer.Screening guidelines should pay specific attention to individuals with positive family history and further studies need to be done on validating current screening methods or developing new modalities in this high-risk population.
文摘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.
基金supported by the National Natural Science Foundation of China(grants:30972531 and 81320108026)a Project of the Priority Academic Program Development of Jiangsu Higher Education Institutions
文摘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.
基金Supported by The National Natural Science Foundation of China,No. 30571832
文摘AIM:To compare the gastric cancer(GC) patients by their family history with gastric and non-GC.METHODS:Positive family histories within seconddegree relatives and clinicopathological features were obtained for 256 patients.RESULTS:Of the 256 probands,112(76 male,36 female) were incorporated into familial GC(FGC) group:at least two GC members;144(98 male,46 female) were included in the non-FGC group(relatives only affected with non-GCs).Of 399 tumors in relatives(181 from FGC against 212 from non-FGC),GC was the most frequent,followed by esophageal,hepatocellular,and colorectal cancer.Nasopharyngeal cancer was next to lung cancer but prior to breast and urogenital cancers.Most affected members aggregated within first-degree relatives(FGC:66 siblings,48 fathers,31 mothers,four offspring;non-FGC:56 fathers,55 siblings,43 mothers,and 15 offspring).The ratio of males to females in affected first-degree relatives was usually higher in male probands.Paternal history of GC was a slight risk for GC in males(OR = 1.19,95% CI:0.53-2.69),while risk of GC by maternal history of non-GCs was increased in females(OR = 0.46,95% CI:0.22-0.97).Diffuse-GC was the major histological type in all subgroups.Difference in tumor sites between thetwo groups was derived from an excess of upper sites in non-FGC female probands.CONCLUSION:Distribution of associated non-GCs in a family history of GC may vary with geographic areas.GC may have different genetic and/or environmental etiology in different families,and a certain subtype may be inherited in a female-influenced fashion.
文摘Aim: This study aims to investigate the relationships among family history of cancer, physician’s advice on quitting, and motivation to quit among smokers in the United State. Method: This study using data collected by the 2010 National Health Interview Survey. Five separate sets of multivariate logistic regression models were used to investigate the three-direction relationships among: 1) effect of family cancer history on medical doctors’ advice on quitting, 2) effect of family cancer history on motivation to quit smoking, 3) effect of doctor’s advice on smokers’ motivation to quit. Results: Smoking cessation advice given by physicians has a significant effect on both smoker’s motivation and action taken to quit smoking, but a large proportion of the smokers with family cancer history did not receive doctor’s advice on quitting. Conclusion: Family history of lung cancer or other cancer types was not found to be associated with increased motivation to quit smoking. This is at least partly due to poor collection of family cancer history by physicians. This may be ameliorated by promoting the use of a recently developed self-administered tool for the collection of patient data on family cancer history in primary care settings.
基金Supported by Nuclear R and D Program of the Ministry of Science and Technology, South Korea, No. 2010-0017595a grant from the Korea Health 21 R and D Project, No. A070001,Ministry of Health and Welfare, South Korea
文摘AIM: To evaluate the relationship between a positive family history of primary liver cancer and hepatocellular carcinoma (HCC) development in Korean HCC patients. METHODS: We studied a total of 2242 patients diagnosed with HCC between January 1990 and July 2008, whose family history of primary liver cancer was clearly described in the medical records.positive family history of HCC and 2077 (92.6%) did not. The male to female ratio was 3.6:1, and the major causes of HCC were chronic hepatitis B virus (HBV) infection in 75.1%, chronic hepatitis C virus infection in 13.2% and alcohol in 3.1%. The median ages at diag- nosis in the positiveand negative-history groups were 52 years (range: 29-79 years) and 57 years (range: 18-89 years), respectively (P < 0.0001). Furthermore, among 1713 HCC patients with HBV infection, the number of patients under 45 years of age out of 136 patients with positive family history was 26 (19.1%), whereas those out of 1577 patients with negative family history was 197 (12.5%), suggesting that a positive family history may be associated with earlier development of HCC in the Korean population (P = 0.0028). CONCLUSION: More intensive surveillance maybe recommended to those with a positive family history of HCC for earlier diagnosis and proper management especially when HBV infection is present.
文摘AIM: To assess the late outcome of teen-agers with a previous history of recurrent abdominal pain (RAP) or irritable bowel syndrome (IBS). METHODS: A group of 67 children with RAP referred to the department from January 1986 to December 1995 was followed up between 5 and 13 years after the initial diagnosis by means of a structured telephone interview. We hypothesized that those patients with persistent adult IBS-like symptoms would be significantly more likely to report a family history oflBS in comparison with adults with no persistent abdominal complaint. RESULTS: Out of the 52 trackable subjects, 15 were found to present IBS-like symptoms at follow-up (29%) whereas the majority (37 subjects) did not. Subjects with IBS-like symptoms were almost three times more likely to present at least one sibling with similar symptoms compared to subjects not complaining (40.0% vs 16.0%), respectively (P 〈 0.05 at Student t test). Subjects with IBS-like symptoms also reported a higher prevalence of extra-intestinal symptoms, such as back pain, fibromyalgia, headache, fatigue and sleep disturbances. CONCLUSION: The study confirms previous observations indicating that pediatric RAP can predict later development of IBS. The latter appears to be greatly influenced by intrafamilial aggregation of symptoms, possibly through the learning of a specific illness behavior.
基金Supported by two grants from the Science and Technology Program of Shenyang (No.1071166-9-00 and No.1081232-1-00)
文摘Objective:The aim of the study was to investigate the influence of gastric cancer family history in the gastric cancer (GC) patients. Methods: Gastric cancer family histories within second degree relatives and clinicopathological features were obtained for 497 patients. Results:Of the 497 probands,235 probands were incorporated into familial gastric cancer (FGC) group (there were at least two GC members in the family); 262 probands were included in the non-FGC group (relatives only affected with non-GCs). Of 614 tumors in relatives,GC was the most frequent,followed by lung cancer,esophageal cancer,hepatocellular cancer,colorectal cancer,urogenital cancer,breast cancer,and pancreatic cancer. Most affected members aggregated within first-degree relatives. The ratio of males to females in affected first-degree relatives was usually higher in male probands. Paternal history of GC was a strong risk for GC in males,while risk of GC by maternal history of GCs was increased in females. Difference in tumor histological types between the two groups was derived from an excess of diffuse GC in non-FGC male probands. The lower site was the most frequent tumor location in all subgroups. Conclusion:Distribution of associated non-GCs in a family history of GC may vary with geographic areas. GC may have different genetic and/or environmental etiology in different families,and a certain subtype may be inherited in a male-influenced fashion.
文摘AIM: TO investigate the correlation of depressed-type (0-IIc) colorectal neoplasm and family history of firstdegree relatives (FDR) with colorectal cancer (CRC). METHODS: This cross-sectional study was conducted from June 2000 to October 2002 at National Cancer Center Hospital East. Eligible patients undergoing initial total colonoscopy were surveyed regarding family history of CRC among FDR by a questionnaire prior to colonoscopic examinations. All endoscopic findings during colonoscopy were recorded and the macroscopic classification of the early stage neoplasm/cancer was classified into two types (0-IIc vs non 0-IIc). Odds ratios (OR) and 95% confidence intervals (CI) were calculated by univariate and multivariate logistic regression to estimate the association between macroscopic features and clinicopathological data including gender, age, and family history of FDR with CRC. RESULTS: The OR of an association between family history of FDR with CRC and overall early stage neoplasm adjusted by gender and age was 1.85 (95% CI: 1.31-2.61, P = 0.0004), that for non 0-IIc neoplasm was 1.71 (95% CI: 1.22-2.41, P = 0.0017) and for 0-IIc colorectal neoplasm was 2.78 (95% CI: 1.49-5.16, P = 0.0031). CONCLUSION: Our study shows a significant association between a family history of FDR with CRC and 0-IIc colorectal neoplasm. When patients with a family history of FDR with CRC undergo colonoscopy, colonoscopists should check carefully for not only polypoid, but also depressed-type (0-IIc) lesions.
文摘Study Objectives: This study evaluated how a family history of diabetes moderates the effects of diabetes on anxiety, depression, as well as sleep quality. Design: Outpatients with diabetes responded to questionnaires on family history of diabetes, sleep quality, anxiety and depression. Participants: Participants were recruited from the Captain James A. Lovell Federal Health Care Center in North Chicago, Illinois. All participants were adult males (n = 33) with ages ranging from 50 to 88 and were diagnosed with type 1 or type 2 diabetes. There were 8 subjects without a family history of diabetes and 25 subjects with family history of diabetes. Results: In comparison to those with a family history of diabetes, patients without a family history of diabetes were found to experience a poorer quality of sleep, evaluated on the Pittsburgh Sleep Quality Index [PSQI] (t = 3.62, p = 0.001). Anxiety, depression, family history and the Interaction of family history with depression were found to be significant predictors of sleep quality (p < 0.05). Conclusions: Patients without a family history of diabetes exhibit more anxiety and depression and have more sleep problems than those patients who have a family history of diabetes. Presumably a family history of diabetes better informs and prepares these patients for the many unique problems associated with diabetes thereby decreasing disease related anxiety and depression.
文摘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.
文摘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.
文摘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.
文摘Background: Acquisition of family medical history (FMH) is emphasized as a part of obtaining a complete medical history, but whether FMH is consistently documented and utilized in primary care, as well as how it can affect patient care in this context, remains unclear. Thus, the objectives of this study were to determine: 1) if FMH is regularly acquired in a representative primary care practice (the Queen’s Family Health Team, QFHT);2) what is included in the FMH obtained;3) what the utility of FMH is with regards to patient management in primary care;and 4) to utilize healthcare practitioners’ perspectives in order to elucidate any findings regarding the acquisition and utility of FMH at the QFHT. Methods: Patients were interviewed in order to obtain their FMH. For each patient, the FMH obtained was compared to the FMH documented in the patient’s record to determine the record’s completeness. Each patient’s FMH was analyzed for significant history of coronary artery disease (CAD), diabetes mellitus type II (DMII), substance abuse (SA) and colorectal cancer (CRC). Participants were patients scheduled for appointments at the QFHT between May and July 2011. Any patient of the QFHT older than 25 years was eligible to participate. Clinical staff of the QFHT completed an online questionnaire to determine healthcare practitioners’ perspectives regarding the acquisition and utility of FMH. Results: 83 patients participated in the study. Participants ranged in age from 25 - 86 years (median: 63 years);69% were female. FMH present in patients’ records was often either incomplete (42% of charts reviewed) or not documented at all (51% of charts reviewed). Knowledge of FMH can affect patient management in primary care for the diseases assessed (CAD, DMII, SA and CRC). HCP do consider FMH to be important in clinical practice and 86% of respondents stated that they regularly inquired about patients’ FMH. Interpretation: Despite the belief by HCP that FMH is important, there is a disparity between this belief and their practices regarding its documentation and utilization. Finally, analysis of the FMH of the representative population studied shows that information commonly missing in patients’ FMH can affect patient management at a primary care level.
文摘Introduction: Rapid and appropriate family risk assessment and triage of patients are essential for patients presenting to a symptomatic breast unit and international criteria for review are well established. Family History Risk Assessment Software (FaHRAS) is a computerized program, involving different modalities of risk assessment, which is available but has not been widely assessed. Aims: This study evaluated the FaHRAS software scoring of family history risk. Its analysis was compared to multi-tool family history risk assessment models in a cohort of 353 patients on a historic family history waiting list. Methods: A recent published pilot study assessed and categorized family history risk in 353 patients on a historic family history waiting list, according to international guidelines including NICE criteria, Gail and IBIS risk estimates. The current study involved a reassessment of all 353 patients using the FaHRAS software program to determine its accuracy and ease of use. Patient demographics and time required to perform the analysis were documented. Results: FaHRAS identified 73 (20.7%) patients had an IBIS family history score of 17% or greater and 89 (25.2%) patients met the NICE guidelines criteria for management beyond primary care. In the previous study, this was 79 (22.4%) and 112 (31.7%) respectively. Using the largest denominator (NICE guidelines), 264/353 (74.8%) patients could be discharged to primary care using FaHRAS. Using this largest denominator, FaHRAS also identified a total of 28 (7.9%) patients requiring referral to tertiary care while the previous study identified 3 (0.8%). Conclusion: This is one of the first studies to validate FaHRAS, which is accurate and easy to use. FaHRAS system can enable clinicians to become more efficient gatekeepers to genetic services.
文摘Background: The high consanguinity in Middle East increases the risk of genetic diseases, including primary immunodeficiency diseases (PID). Objectives: This study was aimed at determining the rate of positive family history of PID, the overall rate and type of consanguinity, and their effects on delay age during diagnosis of PID. Materials and methods: A retrospective analysis was conducted on 131 children with PID (aged 0 - 14 years) managed at Hamad General Hospital during 1998-2012. Results: Data on 131 patients (75 males & 56 females) of 82 families was analyzed. The most common phenotype of PID was predominantly antibody deficiency (23.7%). The onset age was 24.01 months and delay age 18.7 months. Family history of PID was 66.4% (38.7% in predominantly antibody deficiency and 100% in diseases of immune dysregulation). Positive family history significantly (p = 0.004) reduced the delay age of PID diagnosis by 52.9%. The consanguinity rate was 61.1% (32.3% in the predominantly antibody ID to 96% in the phagocyte defects group), where paternal cousin ranked the highest type (57.5%). Conclusions: This study indicates that family history is common in children with PID and helpful in reducing the delay age. Consanguinity among families of affected children is also high (higher than healthy population). Paternal parallel cousin marriages are the most common type of consanguinity. For a practicing physician, family history is a simple and useful tool when suspecting PID in children. Primary prevention of PID in Middle East communities should consider consanguinity reduction through public awareness and education and premarital counseling programs.
文摘Prevalent diabetes is at high risk for cardiovascular diseases and has a high familial inheritance. However, little is known whether a non-diabetic subject with a family history of diabetes is at high risk for vascular damage or not. The purpose of this study was to evaluate the association between a family history of diabetes and arterial stiffness in adult non-diabetic Japanese population. We analyzed eligible 787 non-diabetic subjects (502 men and 285 women) aged 35-69 years who enrolled in the baseline survey of a cohort study in Tokushima Prefecture, Japan and who underwent a brachial-ankle pulse wave velocity (ba-PWV) measurement. Information on individual life-style characteristics including medical history and treatment for diseases and a first-degree family history of diabetes was obtained through a structured self-administered questionnaire. Analysis of covariance and logistic regression analyses were used to evaluate the association between a family history of diabetes and ba-PWV. We found no differences in age-and-systolic blood pressure-adjusted and multivariate-adjusted means of ba-PWVs between subjects of both sexes with and without a family history of diabetes. Logistic regression analyses including both sexes also revealed that subjects with a family history of diabetes showed no differences in age-and-systolic blood pressure-adjusted and multivariate-adjusted odds ratios for high ba-PWV compared to those without that trait. Our results suggest that a family history of diabetes itself is not associated with arterial stiffness in adult non-diabetic Japanese population.
文摘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.