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https://www.readbyqxmd.com/read/28640966/linking-the-degree-of-virilization-in-females-with-congenital-adrenal-hyperplasia-to-genotype
#1
Semyon Gurgov, Kerlly J Bernabé, John Stites, Christopher M Cunniff, Karen Lin-Su, Diane Felsen, Maria I New, Dix P Poppas
Mutations of CYP21A2 variably decrease 21-hydroxylase activity and result in a spectrum of disease expressions in patients with congenital adrenal hyperplasia (CAH). We examined the association between CYP21A2 mutations and virilization (Prader score) in females with CAH. The study population included 187 CAH females with fully characterized CYP21A2 mutations. One hundred fifty-eight patients were sorted into groups by expected enzyme activity (percent of normal activity) of the less severely affected allele: (A) null, 0%; (B) I2G, 1%; (C) I172N, 2%; and (D) V281L, >2%...
June 22, 2017: Annals of the New York Academy of Sciences
https://www.readbyqxmd.com/read/28640661/attrition-from-antiretroviral-treatment-services-among-pregnant-and-non-pregnant-patients-following-adoption-of-option-b-in-haiti
#2
Jean Wysler Domercant, Nancy Puttkammer, Paul Young, Krista Yuhas, Kesner François, Reynold Grand'Pierre, David Lowrance, Michelle Adler
BACKGROUND: Access to antiretroviral therapy (ART) has expanded in Haiti because of the adoption of Option B+ and the revision of treatment guidelines. Retention in care and treatment varies greatly and few studies have examined retention rates, particularly among women enrolled in Option B+. OBJECTIVE: To assess attrition among pregnant and non-pregnant patients initiating ART following adoption of Option B+ in Haiti. METHODS: Longitudinal data of adult patients initiated on ART from October 2012 through August 2014 at 73 health facilities across Haiti were analyzed using a survival analysis framework to determine levels of attrition...
2017: Global Health Action
https://www.readbyqxmd.com/read/28637262/qualitative-exploration-of-a-smoking-cessation-trial-for-people-living-with-hiv-in-south-africa
#3
Nandita Krishnan, Joel Gittelsohn, Alexandra Ross, Jessica Elf, Sandy Chon, Raymond Niaura, Neil Martinson, Jonathan E Golub
Introduction: In South Africa, people living with HIV (PLWH) have a high prevalence of smoking, which undermines the beneficial effects of antiretroviral therapy (ART). However, little is known about barriers to smoking cessation and what interventions work for PLWH in this setting. Methods: A randomized trial comparing intensive anti-smoking counseling versus counseling and nicotine replacement therapy (NRT) was recently concluded in Klerksdorp, South Africa. In a post-trial follow-up, 23 in-depth interviews with patients and one focus group discussion with counselors from the trial were conducted...
June 16, 2017: Nicotine & Tobacco Research: Official Journal of the Society for Research on Nicotine and Tobacco
https://www.readbyqxmd.com/read/28637193/effect-of-intensive-personalized-5as-5rs-intervention-on-smoking-cessation-in-hospitalized-acute-coronary-syndrome-patients-not-ready-to-quit-immediately-a-randomized-controlled-trial
#4
Jing-Guang Luo, Ling Han, Li-Wei Chen, Yun Gao, Xiao-Jun Ding, Ying Li, Ye Ja, Ming Yang, Chang-Sheng Ma
Introduction: The acute coronary syndrome (ACS) patients who are not ready to quit smoking immediately have an extremely low rate of cessation. This study aims to investigate the efficacy of intensive personalized '5As+5Rs'intervention (IPANR intervention) on smoking cessation in this population. Methods: A parallel-group randomized controlled trial was carried out, which compared IPANR intervention with routine 5Rs (control) at Fu Xing Hospital, Capital Medical University, Bei Jing, China...
June 20, 2017: Nicotine & Tobacco Research: Official Journal of the Society for Research on Nicotine and Tobacco
https://www.readbyqxmd.com/read/28636515/a-brief-period-of-intensive-cardiac-rehabilitation-improves-global-longitudinal-strain-and-diastolic-function-after-a-first-uncomplicated-myocardial-infarction
#5
Gabriella Malfatto, Miriam Revera, Giovanna Branzi, Francesca Ciambellotti, Alessia Giglio, Simonetta Blengino, Matteo Oldani, Camilla Facchini, Gianfranco Parati, Mario Facchini
Objectives In patients with abnormal left ventricular ejection fraction (LVEF) after acute myocardial infarction (AMI), cardiac rehabilitation with physical training prevents cardiac remodelling. To define the role of rehabilitation in the recovery of ventricular function in less severe cases, we studied its effects on more refined indexes of left ventricular function in uncomplicated, low-risk patients. Methods and results Fifty-five patients underwent percutaneous coronary revascularization after uncomplicated first AMI...
March 21, 2017: Acta Cardiologica
https://www.readbyqxmd.com/read/28635971/exercise-among-women-with-ovarian-cancer-a-feasibility-and-pre-post-test-exploratory-pilot-study
#6
Xiaochen Zhang, Daniel McClean, Emily Ko, Mark A Morgan, Kathryn Schmitz
PURPOSE/OBJECTIVES: To establish the feasibility and acceptability of completing a higher dose of the planned physical activity volume among women with ovarian cancer, including those undergoing active treatment. 
. DESIGN: A pre-/post-test exercise intervention. All participants were asked to complete 225 minutes per week of physical activity for 26 weeks. Multiple supports were provided, including exercise DVDs, self-reported logs, and an objective physical activity tracker (Fitbit®)...
May 1, 2017: Oncology Nursing Forum
https://www.readbyqxmd.com/read/28635528/clinical-social-and-ethical-issues-associated-with-non-invasive-prenatal-testing-for-aneuploidy
#7
Blanche Griffin, Samantha Edwards, Lyn S Chitty, Celine Lewis
Non-invasive prenatal testing (NIPT), based on analysis of cell-free foetal DNA, is rapidly becoming a preferred method to screen for chromosomal aneuploidy with the technology now available in over 90 countries. This review provides an up-to-date discussion of the key clinical, social and ethical implications associated with this revolutionary technology. Stakeholders are positive about a test that is highly accurate, safe, can be perfomed early in pregnancy, identifies affected pregnancies that might otherwise have been missed and reduces the need for invasive testing...
February 9, 2017: Journal of Psychosomatic Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/28635337/population-based-genetic-study-of-%C3%AE-thalassemia-mutations-in-mardan-division-khyber-pakhtunkhwa-province-pakistan
#8
Raj Muhammad, Muhammad Shakeel, Shoaib U Rehman, Muhammad A Lodhi
β-Thalassemia (β-thal) is the most prevalent hereditary blood disorder in Pakistan with a carrier rate of 5.0-8.0%. The homozygous affected children require frequent blood transfusions for their survival. This autosomal recessive disease can only be prevented through awareness programs, carrier screening, mutation detection, genetic counseling and prenatal diagnosis (PND). The present study aimed to determine the prevalence of various mutations causing β-thal and also to detect carriers of these mutations in families living in the Mardan Division, Khyber Pakhtunkhwa (KP) Province, Pakistan...
June 21, 2017: Hemoglobin
https://www.readbyqxmd.com/read/28635191/impact-of-a-nutrition-educational-program-in-a-group-of-type-2-diabetes-patients-already-involved-in-a-wider-group-care-plan-and-not-achieving-complete-target-an-observational-study
#9
Anna Comba, Alessandra Ardizzone, Laura Leto, Mauro Feola
Type 2 diabetes is one of the most frequent chronic degenerative diseases in the world (5.4% in Italy); it has many chronic consequences with a significant impact either on expectation or quality of life. About 80-90% of type 2 diabetes patients is either overweight or obese, condition that can cause many more negative consequences than in individuals in the same conditions but with normal weight. The aim of the research is to assess if diabetic people who cannot reach the goals of glycemic control, good eating habits and weight loss can eventually obtain, with an individualized care plan, long lasting improvements...
May 18, 2017: Monaldi Archives for Chest Disease, Archivio Monaldi Per le Malattie del Torace
https://www.readbyqxmd.com/read/28635159/nutrition-in-renal-supportive-care-patient-driven-and-flexible
#10
REVIEW
Jessica Stevenson, Anthony Meade, Ann-Maree Randall, Karen Manley, Stephanie Notaras, Susan Heaney, Maria Chan, Alison Smyth, Elizabeth Josland, Frank Brennan, Mark A Brown
Renal Supportive Care is an alternative treatment pathway in advanced Chronic Kidney Disease (CKD) that is being increasingly adopted, particularly in the elderly. RSC utilises principles of palliative care and has been developed to enhance the care for dialysis patients with a high symptom burden and those being managed on a non-dialysis pathway. Nutrition management is often an under-recognised component of care, and can play an important role in improving patients' quality of life to reduce symptom burden, support physical function and independence and provide appropriate counselling to patients and their families to ensure the goals of RSC are met...
June 20, 2017: Nephrology
https://www.readbyqxmd.com/read/28634734/exploring-the-digital-technology-preferences-of-teenagers-and-young-adults-tya-with-cancer-and-survivors-a-cross-sectional-service-evaluation-questionnaire
#11
Esha Abrol, Mike Groszmann, Alexandra Pitman, Rachael Hough, Rachel M Taylor, Golnar Aref-Adib
PURPOSE: Digital technology has the potential to support teenagers and young adults (TYAs) with cancer from the onset of their disease into survivorship. We aimed to establish (1) the current pattern of use of TYA digital technologies within our service-user population, and (2) their preferences regarding digital information and support within the service. METHODS: A cross-sectional survey was administered as a paper and online self-completed questionnaire to TYAs aged 13-24 accessing outpatient, inpatient, and day care cancer services at a regional specialist centre over a 4-week period...
June 20, 2017: Journal of Cancer Survivorship: Research and Practice
https://www.readbyqxmd.com/read/28634629/medical-malpractice-claims-in-laparoscopic-gynecologic-surgery-a-dutch-overview-of-20-years
#12
Evelien M Sandberg, Esmée M Bordewijk, Désirée Klemann, Sara R C Driessen, Andries R H Twijnstra, Frank Willem Jansen
BACKGROUND: The success of newly introduced surgical techniques is generally primarily assessed by surgical outcome measures. However, data on medical liability should concomitantly be used to evaluate provided care as they give a unique insight into substandard care from patient's point of view. The aim of this study was to analyze the number and type of medical claims after laparoscopic gynecologic procedures since the introduction of advanced laparoscopy two decades ago. Secondly, our objective was to identify trends and/or risk factors associated with these claims...
June 20, 2017: Surgical Endoscopy
https://www.readbyqxmd.com/read/28633780/subtalar-coalitions-does-the-morphology-of-the-subtalar-joint-involvement-influence-outcomes-after-coalition-excision
#13
Susan T Mahan, Victoria I Prete, Samantha A Spencer, James R Kasser, Sarah D Bixby
Posteromedial subtalar (PMST) coalitions are a recently described anatomic subtype of tarsal coalitions. We compared with clinical patient-based outcomes of patients with PMST and standard middle facet (MF) coalitions who had undergone surgical excision of their coalition. The included patients had undergone surgical excision of a subtalar tarsal coalition, preoperative computed tomography (CT), and patient-based outcomes measures after surgery (including the American Orthopaedic Foot and Ankle Society [AOFAS] scale and University of California, Los Angeles [UCLA], activity score)...
July 2017: Journal of Foot and Ankle Surgery: Official Publication of the American College of Foot and Ankle Surgeons
https://www.readbyqxmd.com/read/28633748/multiple-papulonodular-lesions-on-central-area-of-the-face-what-is-your-diagnosis
#14
Margarida Rato, Ana Filipe Monteiro, João Aranha, Ermelindo Tavares
A healthy 31-year-old woman presented with a 20-year history of asymptomatic skin-colored papules and nodules on the central area of the face. Her maternal grandmother, aunts, mother, and sister also had similar lesions. Clinical, histopathological, and genetic features allowed the diagnosis of multiple familial trichoepithelioma. The patient and family were referred to the genetic department for genetic counselling. Close follow-up for the possibility of secondary basal cell carcinoma is warranted.
June 15, 2017: Dermatology Online Journal
https://www.readbyqxmd.com/read/28633327/a-prognosis-based-approach-to-infertility-understanding-the-role-of-time
#15
(no author information available yet)
The current definition of infertility acknowledges the importance of duration of pregnancy seeking but fails to recognize the prevalent negative impact of female age. In fact, the diagnosis of unexplained infertility increases with women's age because of our incapacity to discern between age-related infertility and real unexplained infertility. Physicians' response to the pressures of increased female age has been to take prompt refuge in assisted reproduction despite the lack of robust evidence and the inherent risks and costs of these procedures...
June 13, 2017: Human Reproduction
https://www.readbyqxmd.com/read/28632882/tattooing-and-psoriasis-demographics-motivations-and-attitudes-complications-and-impact-on-body-image-in-a-series-of-90-finnish-patients
#16
Nicolas Kluger
INTRODUCTION: Koebner phenomenon (KP) affects up to a third of patients with psoriasis and can occur on tattoos. Little is known about the extent of tattooing and its consequences among psoriatic patients. A survey was conducted to determine the demographics, motivations and attitudes towards tattoos, and complications among tattooed patients with psoriasis, and the impact on their body image. METHODS: Ninety Finnish patients completed an internet self-reported questionnaire in June 2016...
June 2017: Acta Dermatovenerologica Alpina, Panonica, et Adriatica
https://www.readbyqxmd.com/read/28632252/improving-oncology-nurses-knowledge-about-nutrition-and-physical-activity-for-cancer-survivors
#17
Merel R van Veen, Meeke Hoedjes, Joline J Versteegen, Nienke van de Meulengraaf-Wilhelm, Ellen Kampman, Sandra Beijer
PURPOSE/OBJECTIVES: To assess what percentage of oncology nurses perceived themselves as having insufficient knowledge to provide advice on nutrition and/or physical activity (PA), which characteristics were associated with nurses' perception, and whether the content and information sources differed among those nurses.
. DESIGN: A cross-sectional study.
. SETTING: A web-based survey among oncology nurses in the Netherlands.
. SAMPLE: 355 oncology nurses provided advice on nutrition; of these, 327 provided advice on PA...
July 1, 2017: Oncology Nursing Forum
https://www.readbyqxmd.com/read/28631888/the-importance-of-phase-analysis-in-multiexon-copy-number-variation-detected-by-acgh-in-autosomal-recessive-disorder-loci
#18
Madelyn A Gillentine, Christian P Schaaf, Ankita Patel
Cohen Syndrome (CS) is a rare autosomal recessive disorder caused by homozygous or compound heterozygous pathogenic variants in VPS13B, also known as COH1. Over 100 pathogenic variants in VSP13B, primarily truncations, and copy number variants, have been found in patients with CS. Here, we present an 11-month-old girl with CS caused by two multi-exonic small deletions in VSP13B in trans. Array comparative genomic hybridization has revolutionized the field of genome copy number analysis down to the exonic level, however it has its limitations...
June 20, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28631146/motivations-for-interest-disinterest-and-uncertainty-in-intrauterine-device-use-among-young-women
#19
Anu Manchikanti Gomez, Bridget Freihart
Objective To elucidate salient contraceptive preferences and priorities as they relate to young women's interest or lack thereof in intrauterine device (IUD) use. Methods Qualitative data were drawn from a 2012 survey on contraceptive preferences and IUD interest. Among 413 young (ages 18-29) women, open-ended responses describing reasons for interest, disinterest or uncertainty in future IUD use were examined using a thematic analysis approach. Results Most participants were unsure about (49.2%) or not interested in (30...
June 19, 2017: Maternal and Child Health Journal
https://www.readbyqxmd.com/read/28630853/mega-tumour-chondrosarcoma-of-humerus-an-insanely-large-tumor-and-its-social-implications
#20
Rakesh Sharma, Harminder Singh Sohal, Neeraj Malhotra
INTRODUCTION: Large size bone tumors are rare as patients present quite early. The current article reports a large chondrosarcoma removed from left humerus. The rarity of such large size tumors is focus of the report. CASE REPORT: Forty year old male presented with a huge mass in this left arm. The same patient apparently was admitted three years back for excision of the arm swelling which was relatively small that time. However the patient did not undergo surgery and was takin treatment from local bone setters during the last three years and tumor grew to a larger size during this period...
January 2017: Journal of Orthopaedic Case Reports
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