Read by QxMD icon Read

family history

Bengt Zöller, Xinjun Li, Henrik Ohlsson, Jianguang Ji, Ashfaque A Memon, Peter J Svensson, Karolina Palmér, Björn Dahlbäck, Jan Sundquist, Kristina Sundquist
Familial aggregation (clustering) of venous thromboembolism (VTE) is the clustering of VTE within a family. Though several genes, such as antithrombin, protein C, protein S, factor V, and prothrombin are associated with the familial clustering of VTE, these loci only partially explain the familial aggregation of VTE. The epidemiology of the familial aggregation of VTE exhibits typical characteristics of complex traits. The family history of VTE in first-degree relatives is associated with a two to three times increased familial relative risk (FRR)...
October 20, 2016: Seminars in Thrombosis and Hemostasis
Kari Branham, Hiroko Matsui, Pooja Biswas, Aditya A Guru, Michael Hicks, John J Suk, He Li, David Jakubosky, Tao Long, Amalio Telenti, Naoki Narai, John R Heckenlively, Kelly A Frazar, Paul A Sieving, Radha Ayyagari
While more than 250 genes are known to cause inherited retinal degenerations (IRD), nearly 40-50% of families have the genetic basis for their disease unknown. In this study we sought to identify the underlying cause of inherited retinal degeneration (IRD) in a family by whole genome sequence (WGS) analysis. Clinical characterization including standard ophthalmic examination, fundus photography, visual field testing, electroretinography, and review of medical and family history was performed. WGS was performed on affected and unaffected family members using Illumina HiSeq X10...
October 7, 2016: Physiological Genomics
J Soler, P Ferentinos, C Prats, S Miret, M Giralt, V Peralta, L Fañanás, M Fatjó-Vilas
INTRODUCTION: This study explored schizotypy as a familial liability marker for schizophrenia-spectrum disorders (SSD) by examining: 1) the aggregation of schizotypy in families with a SSD patient, 2) whether familial resemblance of schizotypy is associated with ridge dissociations (RD), another SSD liability marker, 3) whether schizotypy aggregation patterns influence patients' psychopathology. METHODS: The sample comprised 30 SSD patients and 82 healthy first-degree relatives...
September 29, 2016: Journal of Psychiatric Research
C Dolfus, J-P Simon, G Landemore, F Leroy, F Chapon
INTRODUCTION: The clinical and histological presentations of the adult form of Pompe disease may be atypical. In such cases, identifying histological signs that point to the diagnosis would be crucial to avoid a delay in care. The aim of our study was to investigate the presence of rimmed vacuoles and acid phosphatase positivity in muscle biopsies of patients with late-onset Pompe disease. MATERIAL AND METHODS: We retrospectively studied muscle biopsies of all cases of the adult form of Pompe disease diagnosed at the University Hospital of Caen...
2016: Folia Neuropathologica
Najlaa M Aljefree, Patricia Lee, Jamal M Alsaqqaf, Faruk Ahmed
Recent evidence has pointed out an association between vitamin D deficiency and coronary heart disease (CHD). Due to the growing epidemic of CHD and vitamin D deficiency in Saudi Arabia, exploring the role of vitamin D in the prevention of CHD is crucial. The aim of this study was to examine the association between vitamin D status and CHD in Saudi Arabian adults. This case-control study included 130 CHD cases and 195 age-sex matched controls. Study subjects were recruited from three hospitals in the western region of Saudi Arabia...
October 17, 2016: Healthcare (Basel, Switzerland)
Helen Louise Adams, Dharamveer Basude, Alison Kyle, Sarah Sandmann, Siba Prosad Paul
Irritable bowel syndrome (IBS) is the most common cause of non-organic recurrent abdominal pain in children. IBS is a clinical diagnosis, which is based on the Rome IV criteria for functional gastrointestinal disorders in children, as well as the patient's history. The diagnosis of IBS is established following the exclusion of organic causes of recurrent abdominal pain. Staggered investigations should be avoided because they might increase the child's and family's anxiety in the absence of an organic diagnosis...
October 12, 2016: Nursing Standard
Theodore Pincus
An MDHAQ/RAPID3 (multidimensional health assessment questionnaire/routine assessment of patient index data) was developed from the HAQ over 25 years, based on observations made from completion by every patient (with all diagnoses) at every routine rheumatology visit since 1980. Modification of the HAQ was viewed as similar to improving a laboratory test, with a primary focus on clinical value for diagnosis, prognosis, and/or management, as well as feasibility for minimal effect on clinical workflow. Rigorous attention, was also directed to validity, reliability, other methodologic and technological considerations, but after clinical value and feasibility were established...
September 2016: Clinical and Experimental Rheumatology
Karin N Wagner, Haikady Nagaraja, Dawn C Allain, Adam Quick, Stephen Kolb, Jennifer Roggenbuck
Although genetic testing for amyotrophic lateral sclerosis (ALS) is widely available, it is unknown what proportion of patients with ALS have access to genetic counseling and testing, and patient attitudes towards ALS genetic testing have not been studied. We conducted a national survey of ALS patients enrolled in the Agency for Toxic Substances and Disease Registry, which consisted of multiple choice questions and two 12 item Likert scale series assessing respondents' experience with and attitude toward genetic testing...
October 20, 2016: Journal of Genetic Counseling
Kaarina Korhonen, Hanna Remes, Pekka Martikainen
PURPOSE: There is inconsistent evidence for social differentials in the risk of depression in youth, and little is known about how education at this age influences the risk. We assess how parental socioeconomic position (SEP) and education predict depression from late adolescence to early adulthood, a time of major educational transitions. METHODS: We followed a nationally representative 20 % sample of Finnish adolescents born in 1986-1990 (n = 60,829) over two educational transitory stages at the age of 17-19 and 20-23 covering the years 2003-2011...
October 19, 2016: Social Psychiatry and Psychiatric Epidemiology
Zerrin Demirtürk, Evren Şentürk, Abbas Köse, Perihan Ergin Özcan, Lütfi Telci
BACKGROUND: Biotinidase deficiency (BD) is a rare, inherited autosomal recessive disorder that is treatable within childhood. We present a patient with pneumonia and respiratory acidosis who was not diagnosed with any systemic disorders; the patient was finally diagnosed as BD. CASE REPORT: A thirty-year-old woman was admitted to the emergency department with respiratory failure that had persisted for a few days and progressively weakening over the previous six months...
September 2016: Balkan Medical Journal
Rahul Tyagi, Marcin R Zgoda, Rachel Short
National Health Service Quality Improvement Scotland (NHS QIS) published a health technology scoping report in 2006 acknowledging that there are serious concerns within Scotland in relation to Developmental Dysplasia of Hip (DDH) as there is no formal screening program in place and there are significant variations between NHS boards leading to confusion for staff and parents. NHS QIS identified need for audit work to improve hip screening in Scotland. The aim of this study is review of current practice of selective screening for DDH...
September 19, 2016: Orthopedic Reviews
Reza Dabiri, Touraj Mahmoudi, Hamid Farahani, Hossein Nobakht, Mohammad Reza Zali
BACKGROUND: With regard to the effect of calcium against colorectal cancer (CRC) and considering the key role of calcium sensing receptor (CaSR) in calcium homeostasis, this study investigated whether CaSR gene rs1801725 or A986S variant was associated with susceptibility to CRC risk. METHODS: This study was conducted as a case-control study and 303 cases with CRC and 354 controls were enrolled. All 657 subjects were genotyped for CaSR gene A986S variant using PCR-RFLP method...
August 2016: Iranian Journal of Cancer Prevention
Jyh-Ming Jimmy Juang, Minoru Horie
In 1992, the Brugada syndrome (BrS) was recognized as a disease responsible for sudden cardiac death, characterized by a right bundle-branch block with ST segment elevation in the leads V1 and V2. This syndrome is highly associated with sudden cardiac death, especially in young males. BrS is currently diagnosed in patients with ST-segment elevation showing type 1 morphology ≥ 2 mm in ≥1 leads among the right precordial leads V1 or V2 positioned in the 2nd, 3rd, or 4th intercostal space, and occurring either spontaneously or after a provocative drug test by the intravenous administration of Class I antiarrhythmic drugs...
October 2016: Journal of Arrhythmia
Runhua Lei, Cynthia L Frasier, Melissa T R Hawkins, Shannon E Engberg, Carolyn A Bailey, Steig E Johnson, Adam T McLain, Colin P Groves, George H Perry, Stephen D Nash, Russell A Mittermeier, Edward E Louis
The family Lepilemuridae includes 26 species of sportive lemurs, most of which were recently described. The cryptic morphological differences confounded taxonomy until recent molecular studies; however, some species' boundaries remain uncertain. To better understand the genus Lepilemur, we analyzed 35 complete mitochondrial genomes representing all recognized 26 sportive lemur taxa and estimated divergence dates. With our dataset we recovered 25 reciprocally monophyletic lineages, as well as an admixed clade containing Lepilemur mittermeieri and Lepilemur dorsalis Using modern distribution data, an ancestral area reconstruction and an ecological vicariance analysis were performed to trace the history of diversification and to test biogeographic hypotheses...
October 3, 2016: Journal of Heredity
Michael Y Ni, Tom K Li, Herbert Pang, Brandford H Y Chan, Betty Y Yuan, Ichiro Kawachi, C Mary Schooling, Gabriel M Leung
Despite the extensive history of social movements around the world, the evolution of population mental health before, during, and after a social movement remains sparsely documented. We sought to assess over time the prevalence of depressive symptoms during and after the Occupy Central movement in Hong Kong and to examine the associations of direct and indirect exposures to Occupy Central with depressive symptoms. We longitudinally administered interviews to 909 adults who were randomly sampled from the population-representative FAMILY Cohort at 6 time points from March 2009 to March 2015: twice each before, during, and after the Occupy Central protests...
October 19, 2016: American Journal of Epidemiology
J H Liang, Y Cheng, X Deng, Y Y Yu, X X Li
: Objective: To evaluate the efficacy of large spot indirect ophthalmoscopy laser alone or combined with systemic chemotherapy in the treatment of early and middle stage retinoblastoma. Methods: Retrospective series case study. Clinical data of 21 patients (22 eyes) who were diagnosed as retinoblastoma (RB) in Peking University People's Hospital from March 2009 to August 2014 were collected. Medical and family history, ocular ultrasound, orbital and cranial MRI or CT examination of RB Children were detailed recorded...
October 11, 2016: [Zhonghua Yan Ke za Zhi] Chinese Journal of Ophthalmology
X L Sun, F C Zhang, Y Xiao, L Liu, Y Guan
Objective: To study the morphologic changes of immunotactoid glomerulopathy and to investigate the clinical pathological features and differential diagnosis. Methods: Renal biopsy was observed under the light microscope, immunofluorescence and electron microscopy in a case of newly diagnosed immunotactoid glomerulopathy. Results: This patient clinically presented with nephrotic syndrome and hypertension, without family history of renal diseases. Light microscopy showed that diffusely massive and specific protein deposition in the glomerulus in Masson staining...
October 8, 2016: Zhonghua Bing Li Xue za Zhi Chinese Journal of Pathology
Wei Yu, Bo Ye, Liyun Xu, Zhaoyu Wang, Hanbo Le, Shanjun Wang, Hanbo Cao, Zhenda Chai, Zhijun Chen, Qingquan Luo, Yongkui Zhang
BACKGROUND: The solitary pulmonary nodule (SPN) is a common and challenging clinical problem, especially solid SPN. The object of this study was to explore the predictive factors of SPN appearing as pure solid with malignance and to establish a clinical prediction model of solid SPNs. METHODS: We had a retrospective review of 317 solid SPNs (group A) having a final diagnosis in the department of thoracic surgery, Shanghai Chest Hospital from January 2015 to December 2015, and analyzed their clinical data and computed tomography (CT) images, including age, gender, smoking history, family history of cancer, previous cancer history, diameter of nodule, nodule location (upper lobe or non-upper lobe, left or right), clear border, smooth margin, lobulation, spiculation, vascular convergence, pleural retraction sign, air bronchogram sign, vocule sign, cavity and calcification...
October 20, 2016: Zhongguo Fei Ai za Zhi, Chinese Journal of Lung Cancer
Ping Liang, Junling Li
BACKGROUND: Due to it's concealment and no obvious symptoms, lung squamous carcimoma often has advanced disease when diagnosed. The aims of this study were to describe the characteristics of the disease, to evaluate the clinical importance of detection of multiple tumor markers in patients with squamous cell carcinoma of the lung. METHODS: The characteristics of all patients with advanced squamous cell lung cancer treated in Beijing Cancer Hospital of Chinese Academy of Medical Sciences during Jan...
October 20, 2016: Zhongguo Fei Ai za Zhi, Chinese Journal of Lung Cancer
Sentaro Imamura, Shintaro Narita, Ryuta Nishikomori, Hiroshi Tsuruta, Kazuyuki Numakura, Atsushi Maeno, Mitsuru Saito, Takamitsu Inoue, Norihiko Tsuchiya, Hiroshi Nanjo, Toshio Heike, Shigeru Satoh, Tomonori Habuchi
BACKGROUND: Secondary bladder amyloidosis is an extremely rare disease, resulting from a chronic systematic inflammatory disorder associated with amyloid deposits. Although uncommon in Japan, familial Mediterranean fever (FMF) is a hereditary autoinflammatory disease characterized by recurrent episodes of fever of short duration and serositis and is frequently associated with systemic amyloidosis. Here, we present a case of a Japanese patient complaining of fever and macroscopic hematuria after a living donor renal transplantation...
October 19, 2016: BMC Research Notes
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"