keyword
MENU ▼
Read by QxMD icon Read
search

family history

keyword
https://www.readbyqxmd.com/read/27913912/genetic-counselor-practices-involving-pediatric-patients-with-fap-an-investigation-of-their-self-reported-strategies-for-genetic-testing-and-hepatoblastoma-screening
#1
Caitlin E Lawson, Thomas M Attard, Hongying Dai, Seth Septer
Familial adenomatous polyposis (FAP) is a cancer predisposition syndrome that causes early-onset polyposis and is associated with an increased risk for hepatoblastoma. There is currently a lack of consensus on when to order APC (adenomatous polyposis coli) gene testing or implement surveillance for hepatoblastoma. An online questionnaire was completed by 62 genetic counselors to capture their current practices regarding these questions. Extracolonic findings associated with FAP that were most likely to prompt APC testing in an otherwise asymptomatic 10 year-old child with a negative family history were multiple desmoid tumors, congenital hypertrophy of the retinal pigment epithelium (CHRPE), jaw osteomas, and hepatoblastoma...
December 3, 2016: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/27913614/relationship-between-employment-histories-and-frailty-trajectories-in-later-life-evidence-from-the-english-longitudinal-study-of-ageing
#2
Wentian Lu, Rebecca Benson, Karen Glaser, Loretta G Platts, Laurie M Corna, Diana Worts, Peggy McDonough, Giorgio Di Gessa, Debora Price, Amanda Sacker
BACKGROUND: Given the acceleration of population ageing and policy changes to extend working lives, evidence is needed on the ability of older adults to work for longer. To understand more about the health impacts of work, this study examined the relationship between employment histories before retirement and trajectories of frailty thereafter. METHODS: The sample comprised 2765 women and 1621 men from the English Longitudinal Study of Ageing. We used gendered typologies of life-time employment and a frailty index (FI)...
December 2, 2016: Journal of Epidemiology and Community Health
https://www.readbyqxmd.com/read/27913609/ap2s1-and-gna11-mutations-not-a-common-cause-of-familial-hypocalciuric-hypercalcemia
#3
Silje Hovden, Lars Rejnmark, Søren A Ladefoged, Peter H Nissen
OBJECTIVE: Familial hypocalciuric hypercalcemia (FHH) type 1 is caused by mutations in the gene encoding the calcium-sensing receptor (CASR). Recently, mutations affecting codon 15 in the gene AP2S1 have been shown to cause FHH type 3 in up to 26% of CASR-negative FHH patients. Similarly, mutations in the gene GNA11 have been shown to cause FHH type 2. We hypothesized that mutations in AP2S1 and GNA11 are causative in Danish patients with suspected FHH and that these mutations are not found in patients with primary hyperparathyroidism (PHPT), which is the main differential diagnostic disorder...
February 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/27913496/discussing-and-managing-hematologic-germ-line-variants
#4
Wendy Kohlmann, Joshua D Schiffman
With the introduction of genomic technologies, more hereditary cancer syndromes with hematologic malignancies are being described. Up to 10% of hematologic malignancies in children and adults may be the result of an underlying inherited genetic risk. Managing these patients with hereditary hematologic malignancies, including familial leukemia, remains a clinical challenge because there is little information about these relatively rare disorders. This article covers some of the issues related to the diagnosis and interpretation of variants associated with hereditary hematologic malignancies, including the importance of an accurate family history in interpreting genetic variants associated with disease...
December 2, 2016: Hematology—the Education Program of the American Society of Hematology
https://www.readbyqxmd.com/read/27913495/germ-line-mutations-associated-with-leukemias
#5
Christopher C Porter
Several genetic syndromes have long been associated with a predisposition to the development of leukemia, including bone marrow failure syndromes, Down syndrome, and Li Fraumeni syndrome. Recent work has better defined the leukemia risk and outcomes in these syndromes. Also, in the last several years, a number of other germ line mutations have been discovered to define new leukemia predisposition syndromes, including ANKRD26, GATA2, PAX5, ETV6, and DDX41 In addition, data suggest that a substantial proportion of patients with therapy related leukemias harbor germ line mutations in DNA damage response genes such as BRCA1/2 and TP53 Recognition of clinical associations, acquisition of a thorough family history, and high index-of-suspicion are critical in the diagnosis of these leukemia predisposition syndromes...
December 2, 2016: Hematology—the Education Program of the American Society of Hematology
https://www.readbyqxmd.com/read/27913494/introduction-to-cancer-genetic-susceptibility-syndromes
#6
Rose B McGee, Kim E Nichols
The last 30 years have witnessed tremendous advances in our understanding of the cancer genetic susceptibility syndromes, including those that predispose to hematopoietic malignancies. The identification and characterization of families affected by these syndromes is enhancing our knowledge of the oncologic and nononcologic manifestations associated with predisposing germ line mutations and providing insights into the underlying disease mechanisms. Here, we provide an overview of the cancer genetic susceptibility syndromes, focusing on aspects relevant to the evaluation of patients with leukemia and lymphoma...
December 2, 2016: Hematology—the Education Program of the American Society of Hematology
https://www.readbyqxmd.com/read/27913486/heavy-menstrual-bleeding-work-up-and-management
#7
Andra H James
Heavy menstrual bleeding (HMB), which is the preferred term for menorrhagia, affects ∼90% of women with an underlying bleeding disorder and ∼70% of women on anticoagulation. HMB can be predicted on the basis of clots of ≥1 inch diameter, low ferritin, and "flooding" (a change of pad or tampon more frequently than hourly). The goal of the work-up is to determine whether there is a uterine/endometrial cause, a disorder of ovulation, or a disorder of coagulation. HMB manifest by flooding and/or prolonged menses, or HMB accompanied by a personal or family history of bleeding is very suggestive of a bleeding disorder and should prompt a referral to a hematologist...
December 2, 2016: Hematology—the Education Program of the American Society of Hematology
https://www.readbyqxmd.com/read/27913246/measuring-content-overlap-during-handoff-communication-using-distributional-semantics-an-exploratory-study
#8
Joanna Abraham, Thomas Kannampallil, Vignesh Srinivasan, William Galanter, Gail Tagney, Trevor Cohen
OBJECTIVE: We develop and evaluate a methodological approach to measure the degree and nature of overlap in handoff communication content within and across clinical professions. This extensible, exploratory approach relies on combining techniques from conversational analysis and distributional semantics. MATERIALS AND METHODS: We audio-recorded handoff communication of residents and nurses on the General Medicine floor of a large academic hospital (n=120 resident and n=120 nurse handoffs)...
November 29, 2016: Journal of Biomedical Informatics
https://www.readbyqxmd.com/read/27913086/punctate-white-matter-lesions-in-full-term-infants-with-neonatal-seizures-associated-with-slc13a5-mutations
#9
Lauren C Weeke, Eva Brilstra, Kees P Braun, Evelien Zonneveld-Huijssoon, Gajja S Salomons, Bobby P Koeleman, Koen L van Gassen, Henrica L van Straaten, Dana Craiu, Linda S de Vries
INTRODUCTION: Early-onset epileptic encephalopathy caused by biallelic SLC13A5 mutations is characterized by seizure onset in the first days of life, refractory epilepsy and developmental delay. Little detailed information about the brain MRI features is available in these patients. METHODS: Observational study describing the neuro-imaging findings in eight patients (five families) with mutations in the SLC13A5 gene. Seven infants had an MRI in the neonatal period, two had a follow-up MRI at the age of 6 and 18 months and one only at 13 months...
November 19, 2016: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/27912977/functional-outcomes-in-hirschsprung-disease-a-single-institution-s-12-year-experience
#10
Hemanshoo S Thakkar, Christopher Bassett, Andy Hsu, Riccardo Manuele, Dorothy Kufeji, Catherine A Richards, Meena Agrawal, Alireza S Keshtgar
AIMS: Hirschsprung disease (HD) is a chronic condition associated with long-term morbidity. We assessed the short and long-term functional outcomes of operated patients in a single institution over a 12-year period. MATERIALS AND METHODS: We conducted a retrospective review of all children operated for HD between 2002 and 2014. Postoperative functional outcomes were assessed using the Rintala Bowel Function Score (BFS, 0-20, 20=best score). We assessed hospital admissions, complications including Hirschsprung associated enterocolitis (HAEC) and the need for further surgical procedures...
November 14, 2016: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/27912112/ethnic-variation-of-genetic-idiopathic-generalized-epilepsy-in-malaysia
#11
Kheng Seang Lim, Ching Ching Ng, Chung Kin Chan, Wee Shean Foo, Joyce Siew Yong Low, Chong Tin Tan
PURPOSE: Ethnic variation in epilepsy classification was reported in the Epilepsy Phenome/Genome Project. This study aimed to determine the ethnic variation in the prevalence of genetic (idiopathic) generalized epilepsy (GGE) and GGE with family history in a multi-ethnic Asian population in Malaysia. METHOD: In this cross-sectional study, 392 patients with a clinical diagnosis of GGE were recruited in the neurology outpatient clinic, University of Malaya Medical Centre (UMMC), from January 2011 till April 2016...
November 24, 2016: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/27910901/risk-factors-for-endometrial-cancer-results-from-a-hospital-based-case-control-study
#12
Maryam Ghanbari Andarieh, Mouloud Agajani Delavar, Dariush Moslemi, Sedighe Esmaeilzadeh
Objectives: The purpose of this investigation was to examine the association between endometrial cancer and possible etiological agents. Methods: A case-control study was conducted in Iran between March 2012 and May 2016. The demographic and reproductive factors of 205 women with endometrial cancer were compared, and 590 healthy cases were participated in the control group. For each endometrial cancer case, there were three controls, who were matched in terms of age and residence. The data were considered significant at p ≤0...
January 10, 2016: Asian Pacific Journal of Cancer Prevention: APJCP
https://www.readbyqxmd.com/read/27908542/health-literacy-and-the-perception-of-risk-in-a-breast-cancer-family-history-clinic
#13
E J Rutherford, J Kelly, E A Lehane, V Livingstone, B Cotter, A Butt, M J O'Sullivan, F O Connell, H P Redmond, M A Corrigan
BACKGROUND: Informed consent is an essential component of medical practice, and especially so in procedural based specialties which entail varying degrees of risk. Breast cancer is one of the most common cancers in women, and as such is the focus of extensive research and significant media attention. Despite this, considerable misperception exists regarding the risk of developing breast cancer. AIMS: This study aims to examine the accuracy of risk perception of women attending a breast cancer family history clinic, and to explore the relationship between risk perception accuracy and health literacy...
November 28, 2016: Surgeon: Journal of the Royal Colleges of Surgeons of Edinburgh and Ireland
https://www.readbyqxmd.com/read/27907107/a-time-calibrated-mitogenome-phylogeny-of-catfish-teleostei-siluriformes
#14
Ilias Kappas, Spiros Vittas, Chrysoula N Pantzartzi, Elena Drosopoulou, Zacharias G Scouras
A very significant part of the world's freshwater ichthyofauna is represented by ancient, exceptionally diverse and cosmopolitan ray-finned teleosts of the order Siluriformes. Over the years, catfish have been established as an exemplary model for probing historical biogeography at various scales. Yet, several tantalizing gaps still exist in their phylogenetic history, timeline and mode of diversification. Here, we re-examine the phylogeny of catfish by assembling and analyzing almost all publicly available mitogenome data...
2016: PloS One
https://www.readbyqxmd.com/read/27906997/role-of-genetic-polymorphisms-in-the-development-and-prognosis-of-sporadic-and-familial-prostate-cancer
#15
Sabrina T Reis, Nayara I Viana, Katia R M Leite, Erico Diogenes, Alberto A Antunes, Alexandre Iscaife, Adriano J Nesrallah, Carlo C Passerotti, Victor Srougi, José Pontes-Junior, Mary Ellen Salles, William C Nahas, Miguel Srougi
BACKGROUNDS: Our aim was to evaluate the role of 20 genetic polymorphisms in the development and prognosis of sporadic and familial PC. A case-control study of 185 patients who underwent radical prostatectomy from 1997 to 2011. These patients were divided into two groups based on their family history. Gleason grade, PSA value and pathological TNM 2002 stage were used as prognostic factors. Blood samples from 70 men without PC were used as controls. The SNPs were genotyped using a TaqMan® SNP Genotyping Assay Kit...
2016: PloS One
https://www.readbyqxmd.com/read/27906916/high-rate-of-incidental-glaucoma-detection-in-new-zealand
#16
Benjamin R LaHood, Joshua Erceg, Tui H Bevin, Gordon Sanderson
AIM: To investigate how glaucoma is initially detected in New Zealanders and what factors aroused disease suspicion. METHODS: A postal survey of 500 randomly selected members of the Glaucoma New Zealand database was undertaken in 2012 to analyse factors relating to their initial presentation and diagnosis of glaucoma. Online surveys and telephone interviews were used to increase the response rate. RESULTS: The overall response rate was 80% (376/468) of eligible participants...
December 2, 2016: New Zealand Medical Journal
https://www.readbyqxmd.com/read/27906802/anti-tissue-transglutaminase-normalization-post-diagnosis-in-children-with-celiac-disease
#17
Daniela Migliarese Isaac, Seema Rajani, Maryna Yaskina, Hien Q Huynh, Justine M Turner
OBJECTIVES: Limited pediatric data exist examining the trend and predictors of anti-tissue transglutaminase (atTG) normalization over time in children with celiac disease (CD). We aimed to evaluate time to normalization of atTG in children after CD diagnosis, and to assess for independent predictors impacting this duration. METHODS: A retrospective chart review was completed in pediatric CD patients diagnosed from 2007 to 2014 at the Stollery Children's Hospital Celiac Clinic (Edmonton, Alberta)...
November 30, 2016: Journal of Pediatric Gastroenterology and Nutrition
https://www.readbyqxmd.com/read/27906638/gene-duplications-and-losses-among-vertebrate-deoxyribonucleoside-kinases-of-the-non-tk1-family
#18
Zeeshan Mutahir, Louise Slot Christiansen, Anders R Clausen, Martin W Berchtold, Zoran Gojkovic, Birgitte Munch-Petersen, Wolfgang Knecht, Jure Piškur
Deoxyribonucleoside kinases (dNKs) salvage deoxyribonucleosides (dNs) and catalyze the rate limiting step of this salvage pathway by converting dNs into corresponding monophosphate forms. These enzymes serve as an excellent model to study duplicated genes and their evolutionary history. So far, among vertebrates only four mammalian dNKs have been studied for their substrate specificity and kinetic properties. However, some vertebrates, such as fish, frogs, and birds, apparently possess a duplicated homolog of deoxycytidine kinase (dCK)...
December 2016: Nucleosides, Nucleotides & Nucleic Acids
https://www.readbyqxmd.com/read/27906166/which-brca-genetic-testing-programs-are-ready-for-implementation-in-health-care-a-systematic-review-of-economic-evaluations
#19
Elvira D'Andrea, Carolina Marzuillo, Corrado De Vito, Marco Di Marco, Erica Pitini, Maria Rosaria Vacchio, Paolo Villari
PURPOSE: There is considerable evidence regarding the efficacy and effectiveness of BRCA genetic testing programs, but whether they represent good use of financial resources is not clear. Therefore, we aimed to identify the main health-care programs for BRCA testing and to evaluate their cost-effectiveness. METHODS: We performed a systematic review of full economic evaluations of health-care programs involving BRCA testing. RESULTS: Nine economic evaluations were included, and four main categories of BRCA testing programs were identified: (i) population-based genetic screening of individuals without cancer, either comprehensive or targeted based on ancestry; (ii) family history (FH)-based genetic screening, i...
December 2016: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/27906088/folie-%C3%A3-deux-and-its-interaction-with-early-life-stress-a-case-report
#20
Alessandra Vargas Alves Nunes, Sandra Odebrecht Vargas Nunes, Talita Strano, Gilberto Pascolat, Gustavo Manoel Schier Doria, Mauricio Nasser Ehlke
BACKGROUND: Folie à deux is a very rare psychiatric syndrome in which a psychotic symptom is transmitted from one individual to another. We present a case of folie à deux occurring during childhood, which is not an usual presentation of this syndrome. In this case, the disorder is correlated with child abuse and neglect, which possibly had a role in the development of the symptoms in our case. CASE PRESENTATION: We present a case of folie à deux between an "induced" 9-year-old black Brazilian boy and the "inducer", his grandmother...
December 1, 2016: Journal of Medical Case Reports
keyword
keyword
73908
1
2
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"