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https://www.readbyqxmd.com/read/29029073/clinical-genetics-and-outcome-of-left-ventricular-non-compaction-cardiomyopathy
#1
Farbod Sedaghat-Hamedani, Jan Haas, Feng Zhu, Christian Geier, Elham Kayvanpour, Martin Liss, Alan Lai, Karen Frese, Regina Pribe-Wolferts, Ali Amr, Daniel Tian Li, Omid Shirvani Samani, Avisha Carstensen, Diana Martins Bordalo, Marion Müller, Christine Fischer, Jing Shao, Jing Wang, Ming Nie, Li Yuan, Sabine Haßfeld, Christine Schwartz, Min Zhou, Zihua Zhou, Yanwen Shu, Min Wang, Kai Huang, Qiutang Zeng, Longxian Cheng, Tobias Fehlmann, Philipp Ehlermann, Andreas Keller, Christoph Dieterich, Katrin Streckfuß-Bömeke, Yuhua Liao, Michael Gotthardt, Hugo A Katus, Benjamin Meder
Aims: In this study, we aimed to clinically and genetically characterize LVNC patients and investigate the prevalence of variants in known and novel LVNC disease genes. Introduction: Left ventricular non-compaction cardiomyopathy (LVNC) is an increasingly recognized cause of heart failure, arrhythmia, thromboembolism, and sudden cardiac death. We sought here to dissect its genetic causes, phenotypic presentation and outcome. Methods and results: In our registry with follow-up of in the median 61 months, we analysed 95 LVNC patients (68 unrelated index patients and 27 affected relatives; definite familial LVNC = 23...
October 6, 2017: European Heart Journal
https://www.readbyqxmd.com/read/29028857/treating-the-young-aesthetic-patient-evidence-based-recommendations
#2
Lauren Meshkov Bonati, Sabrina Guillen Fabi
<p>BACKGROUND: There is growing demand for cosmetic treatments in the younger population, yet counseling and treating this age group can be difficult to justify.</p> <p>OBJECTIVE: Chronologic changes that cause noticeable signs of aging are discussed within each age group. Age-appropriate cosmetic preventions and interventions are therefore recommended.</p> <p>METHODS: A PubMed search was performed for high quality trials and evidence based reviews on the basic science of aging, as well as on cosmetic modalities and their histological, biochemical, and clinical effects...
June 1, 2017: Journal of Drugs in Dermatology: JDD
https://www.readbyqxmd.com/read/29028445/return-to-sport-specific-performance-after-primary-anterior-cruciate-ligament-reconstruction-a-systematic-review
#3
Nicholas G Mohtadi, Denise S Chan
BACKGROUND: Physicians counseling athletes on the prognosis of sport-specific performance outcomes after anterior cruciate ligament reconstruction (ACLR) depend on the published literature. However, critical appraisal of the validity and biases in these studies is required to understand how ACLR affects an athlete's ability to return to sport, the athlete's sport-specific performance, and his or her ability to achieve preinjury levels of performance. PURPOSE: This review identifies the published prognostic studies evaluating sport-specific performance outcomes after ACLR...
October 1, 2017: American Journal of Sports Medicine
https://www.readbyqxmd.com/read/29027837/malpractice-in-paediatric-minimally-invasive-surgery-a-current-concept-results-of-an-international-survey
#4
Ciro Esposito, Maria Escolino, Marcela Bailez, Steve Rothenberg, Mark Davenport, Amulya Saxena, Anthony Caldamone, Philipp Szavay, Paul Philippe, Holger Till, Philippe Montupet, George W Holcomb Rd
This study aimed to assess malpractice in paediatric minimally invasive surgery (MIS), and attitudes, prevention strategies and mechanisms to support surgeons while they are under investigation. An observational, multicentric, questionnaire-based study was conducted. The survey questionnaire was sent via mail, and it comprised four sections. Twenty-four paediatric surgeons (average age 54.6 years), from 13 different countries, participated in this study. The majority had >15 years of experience in MIS. Three (12...
January 1, 2017: Medicine, Science, and the Law
https://www.readbyqxmd.com/read/29027730/psychological-distress-in-post-partum-women-after-non-invasive-prenatal-testing-nipt-in-japan
#5
Eri Takeda, Nobuhiro Suzumori, Takeshi Ebara, Junko Yotsumoto, Kyoko Kumagai, Kumiko Oseto, Hironao Numabe, Mayumi Sugiura-Ogasawara
AIM: The purpose of this study was to clarify the characteristics of psychological mental distress in post-partum women after non-invasive prenatal testing (NIPT) in Japan. METHODS: Psychological mental distress was assessed using the Kessler Psychological Distress Scale (K6). We compared patients with (i) low pre-NIPT K6 and low post-partum K6 scores (control group), and (ii) low pre-NIPT K6 and a high post-partum K6 scores (case group). RESULTS: Among the 697 women who underwent NIPT, 29 (4...
October 13, 2017: Journal of Obstetrics and Gynaecology Research
https://www.readbyqxmd.com/read/29027070/assessment-of-current-genetic-counselor-practices-in-post-visit-written-communications-to-patients
#6
Emily VandenBoom, Angela M Trepanier, Erin P Carmany
Providing patients with post-visit written communication (PVWC) is a long-standing component of genetic counseling. However the depiction of this practice in today's clinical landscape is limited. To better describe this practice, we surveyed practicing clinical genetic counselors to ask if they send post-visit communications to patients and if so, what are the types, the average length, and the average time spent writing. They were also asked the perceived purpose of providing PVWC, if/how the practice has changed over time, and factors influencing the practice...
October 12, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/29026962/abdominal-contouring-outcomes-in-class-iii-obesity-analysis-of-the-acs-nsqip-database
#7
Husain T AlQattan, Leela S Mundra, Gustavo A Rubio, Seth R Thaller
BACKGROUND: Obesity may increase the risk of complications following abdominal contouring. The aim of this study is to evaluate panniculectomy outcomes in patients with class III obesity (BMI > 40 kg/m(2)). METHODS: The American College of Surgeon's National Surgical Quality Improvement Program ACS-NSQIP (2010-2014) was used to identify patients who underwent panniculectomy. Class III obesity patients were identified. Demographics, comorbidities and postoperative outcomes were evaluated...
October 12, 2017: Aesthetic Plastic Surgery
https://www.readbyqxmd.com/read/29026792/antiretroviral-drug-resistance-mutations-among-hiv-treatment-failure-patients-in-tehran-iran
#8
Molood Farrokhi, Samaneh Moallemi, Reza Shirkoohi, Reza Golmohammadi, Sara Ahsani-Nasab, Sara Sardashti, Ladan Abbasian, Kazem Baesi, Minoo Mohraz
BACKGROUND: This study aimed to determine drug resistance mutations in patients with virological failure and find correlation between HIV drug resistance test and viral load. METHODS: Blood sample was collected from 51 patients who suspicious treatment failure in the center of Imam Khomeini Hospital, Tehran, Iran in 2015. Viral voluntary counseling and testing load test was done and the patients with viral load above 1000 copies choose for detection of drug resistance mutations by genotyping method (29 patients)...
September 2017: Iranian Journal of Public Health
https://www.readbyqxmd.com/read/29026602/re-phrasing-the-question-a-simple-tool-for-evaluation-of-adherence-to-therapy-in-patients-with-inflammatory-bowel-disease
#9
T Engel, B Ungar, G Ben-Haim, N Levhar, R Eliakim, S Ben-Horin
BACKGROUND: Non-adherence to medication in patients with inflammatory bowel disease (IBD) is a challenging problem which is often overlooked or under-estimated by the physician or denied by the patient. We aimed to examine if re-phrasing the wording of the question used by the physician could help in revealing more patients who are non-adherent, and for whom appropriate counseling may be instituted. METHODS: A cross-sectional questionnaire-based study of IBD patients treated in a tertiary center was conducted...
October 2017: United European Gastroenterology Journal
https://www.readbyqxmd.com/read/29026449/emotional-impact-on-the-results-of-brca1-and-brca2-genetic-test-an-observational-retrospective-study
#10
Sara Mella, Barbara Muzzatti, Riccardo Dolcetti, Maria Antonietta Annunziata
BACKGROUND: BRCA1 and BRCA2 mutations are associated with a higher risk of breast and ovarian tumors. This study evaluated the emotional states of women 1 month after having received the results of the genetic test and assessed eventual associations with the type of outcome, personal/familiar disease history and major socio-demographic variables. METHODS: The study, an observational retrospective one, involved 91 women, evaluated 1 month after receiving their results...
2017: Hereditary Cancer in Clinical Practice
https://www.readbyqxmd.com/read/29025782/olfactory-bulb-agenesis-with-normal-sexual-hormones
#11
Prayuth Tunsuriyawong, Krit Pongpirul, Tagann Chaisam, Petpring Prajuabpansri
An 18-year-old Caucasian man presented with a lack of sense of surrounding smell. The problem was first noticed when a family member discussed the smell of the food, which he had no idea what it was. The patient had normal development and sexual function, no history of trauma, surgery, chemical exposure or infection. Physical examination revealed no significant abnormalities. Smell threshold test using phenyl-ethyl-alcohol revealed bilateral anosmia. MRI showed bilateral aplastic olfactory bulbs and tracts associated with absent cortical growth of the olfactory sulci and asymmetrical gyrus rectus...
October 11, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/29025259/using-capture-recapture-method-to-estimate-the-population-of-hiv-positive-people
#12
Jalal Poorolajal, Younes Mohammadi, Farzad Farzinara
Objectives: The capture-recapture method was applied to estimate the size of HIV-positive patients not registered with any of the data sources. Methods: This cross-sectional study was conducted in Lorestan Province, the west of Iran, in 2016. Three incomplete sources of HIV-positive patients, with partially overlapping data, were used, including: (a) transfusion center; (b) Volunteer Counseling and Testing Centers (VCTCs); (c) and prison. The three-source capture-recapture method, using a log-linear model, was applied for data analysis...
October 10, 2017: Epidemiology and Health
https://www.readbyqxmd.com/read/29025208/an-atypical-case-of-noonan-syndrome-with-kras-mutation-diagnosed-by-targeted-exome-sequencing
#13
Jinsup Kim, Sung Yoon Cho, Aram Yang, Ja-Hyun Jang, Youngbin Choi, Ji-Eun Lee, Dong-Kyu Jin
Noonan syndrome (NS) is a genetic disorder caused by autosomal dominant inheritance and is characterized by a distinctive facial appearance, short stature, chest deformity, and congenital heart disease. In individuals with NS, germline mutations have been identified in several genes involved in the RAS/mitogen-activated protein kinase signal transduction pathway. Because of its clinical and genetic heterogeneity, the conventional diagnostic protocol with Sanger sequencing requires a multistep approach. Therefore, molecular genetic diagnosis using targeted exome sequencing (TES) is considered a less expensive and faster method, particularly for patients who do not fulfill the clinical diagnostic criteria of NS...
September 2017: Annals of Pediatric Endocrinology & Metabolism
https://www.readbyqxmd.com/read/29024829/distal-renal-tubular-acidosis-in-a-libyan-patient-evidence-for-digenic-inheritance
#14
Majdi Nagara, Gregori Papagregoriou, Rim Ben Abdallah, Zied Landoulsi, Yosra Bouyacoub, Sahar Elouej, Rym Kefi, Tommaso Pippucci, Voskarides Konstantinos, Anu Bashamboo, Kenneth McElreavey, Mongia Hachicha, Giovanni Romeo, Marco Seri, Constantinos Deltas, Sonia Abdelhak
AIM OF THE STUDY: Recent advances in understanding the underlying molecular mechanism for distal renal tubular acidosis (dRTA), led to an increased attention towards the primary and the familial forms of the disease. Mutations in ATP6V1B1 and ATP6V0A4 are usually responsible for the recessive form of the disease. Mutations in gene AE1 encoding the Cl-/HCO3- exchanger, usually present as dominant dRTA, but a recessive pattern has been recently described. Our objective is to identify the mutational spectrum responsible of dRTA in a consanguineous Libyan family...
October 9, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29023346/influenza-vaccination-rate-and-reasons-for-nonvaccination-in-children-with-cardiac-disease
#15
Gilat Livni, Alina Wainstein, Einat Birk, Gabriel Chodick, Itzhak Levy
BACKGROUND: Influenza is a major cause of respiratory morbidity worldwide. It poses a risk of complications in children with cardiac disease. Influenza vaccine is considered the most effective and safe means of preventing the disease. The aims of this study were to determine the rate of influenza vaccination in children with cardiac disease and to identify the reasons for failure to vaccinate in this patient population. METHODS: The study group included 186 children and their parents who attended the cardiology institute of a tertiary pediatric medical center between September and October 2012...
November 2017: Pediatric Infectious Disease Journal
https://www.readbyqxmd.com/read/29023082/be-vigilant-for-skin-manifestations-of-inherited-cancer-syndromes
#16
Alice SM Tidman
More than 200 hereditary cancer susceptibility syndromes have been described, and it is thought that they account for 5-10% of all cancers. Many have dermatological manifestations (usually lesions, occasionally rashes) which frequently precede other systemic pathology. Dermatological signs are usually non-specific and often trivial in appearance, making their significance easy to overlook and a clinical diagnosis challenging. Histological examination is often required to differentiate lesions. They are usually benign and pathologically unrelated to the primary tumours, with the exception of the atypical moles of the dysplastic naevus syndrome, and may present simply as a cosmetic problem for the patient...
January 2017: Practitioner
https://www.readbyqxmd.com/read/29022426/ignorance-is-bliss-women-s-knowledge-regarding-age-related-pregnancy-risks
#17
Michal Sheinis, Nicole Carpe, Shira Gold, Amanda Selk
Pregnancy risks rise with age and the average age of first time mothers is rising. This study aimed to assess women's actual knowledge and their perceived knowledge of pregnancy complications relating to advanced maternal age. A cross-sectional survey was administered to primiparous women measuring demographics, knowledge of age-related pregnancy risks, previous counselling and health literacy. Of the 218 women surveyed, the mean knowledge score was not significantly different for women <35 years of age compared to women ≥35 years of age (p = ...
October 12, 2017: Journal of Obstetrics and Gynaecology: the Journal of the Institute of Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/29022424/cytogenetic-analysis-of-patients-with-primary-amenorrhea-in-eastern-india
#18
Shanoli Ghosh, Sanchita Roy, Pritha Pal, Atreyee Dutta, Ajanta Halder
Amenorrhea is the absence of menstruation in women of reproductive age. Previous reports suggest that chromosomal abnormality is the second most common cause of amenorrhoea. Early referral for cytogenetic evaluation is recommended for the identification of underlying chromosomal aberrations in amenorrhoea patients. This was an observational study which was conducted in Vivekananda Institute of Medical sciences, Kolkata, during January 2013-December 2015. This study aims to estimate the frequency and types of chromosomal abnormalities in primary amenorrhoea (PA) patients in Eastern India and correlate their hormonal profile with chromosomal reports...
October 12, 2017: Journal of Obstetrics and Gynaecology: the Journal of the Institute of Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/29022404/the-significance-of-breastfeeding-on-sleep-patterns-during-the-first-48%C3%A2-hours-postpartum-for-first-time-mothers
#19
O Hughes, M M Mohamad, P Doyle, G Burke
Postpartum women sleep less during the early days following delivery. Long-term sleep disturbance and fatigue can have significant implications for physical and mental health, relationships, employment and parental competence. Most studies focus on the quality and quantity of maternal sleep between weeks one and six postpartum. We explored sleep patterns and reasons for wakefulness of first-time mothers immediately following delivery. Thirty first-time mothers completed a postnatal sleep questionnaire, detailing their total sleep time (TST), the reasons for being awake and their level of fatigue...
October 12, 2017: Journal of Obstetrics and Gynaecology: the Journal of the Institute of Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/29022205/development-of-focus-gc-framework-for-outcomes-of-clinical-communication-services-in-genetic-counseling
#20
Deborah Cragun, Heather Zierhut
Conceptual frameworks bring together existing theories and models in order to identify, consolidate, and fill in gaps between theory, practice, and evidence. Given the vast number of possible outcomes that could be studied in genetic counseling, a framework for organizing outcomes and postulating relationships between communication services and genetic counseling outcomes was sought. Through an iterative approach involving literature review, thematic analysis, and consolidation, outcomes and processes were categorized to create and define components of a conceptual framework...
October 12, 2017: Journal of Genetic Counseling
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