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https://www.readbyqxmd.com/read/28214152/clinical-and-genetic-diagnosis-of-familial-hypertrophic-cardiomyopathy-results-in-pediatric-cardiology
#1
Bárbara Cardoso, Inês Gomes, Petra Loureiro, Conceição Trigo, Fátima Ferreira Pinto
INTRODUCTION: Hypertrophic cardiomyopathy (HCM) is most often of autosomal dominant inheritance with incomplete penetrance and variable expression. The main purpose of family screening is to identify relatives with unrecognized HCM and to monitor those at risk for disease, in order to minimize complications and to assess risk of sudden cardiac death. The ESC and ACCF/AHA guidelines on the diagnosis and management of HCM recommend the screening of child relatives from the age of 10-12 years...
February 14, 2017: Portuguese Journal of Cardiology: An Official Journal of the Portuguese Society of Cardiology
https://www.readbyqxmd.com/read/28213745/perceptions-of-parent-child-attachment-relationships-and-friendship-qualities-predictors-of-romantic-relationship-involvement-and-quality-in-adolescence
#2
Logan B Kochendorfer, Kathryn A Kerns
Relationships with parents and friends are important contexts for developing romantic relationship skills. Parents and friends may influence both the timing of involvement and the quality of romantic relationships. Three models of the joint influence of parents and friends (direct effects model, mediation model, and moderator model) have been proposed. The present study uses data from a longitudinal study (n = 1012; 49.8% female; 81.1% Caucasian) to examine how attachment and friendship quality at age 10 years predict romantic relationship involvement and quality at ages 12 and 15 years...
February 17, 2017: Journal of Youth and Adolescence
https://www.readbyqxmd.com/read/28213300/experiences-of-stigma-and-discrimination-faced-by-family-caregivers-of-people-with-schizophrenia-in-india
#3
Mirja Koschorke, R Padmavati, Shuba Kumar, Alex Cohen, Helen A Weiss, Sudipto Chatterjee, Jesina Pereira, Smita Naik, Sujit John, Hamid Dabholkar, Madhumitha Balaji, Animish Chavan, Mathew Varghese, R Thara, Vikram Patel, Graham Thornicroft
Stigma associated with schizophrenia significantly affects family caregivers, yet few studies have examined the nature and determinants of family stigma and its relationship to their knowledge about the condition. This paper describes the experiences and determinants of stigma reported by the primary caregivers of people living with schizophrenia (PLS) in India. The study used mixed methods and was nested in a randomised controlled trial of community care for people with schizophrenia. Between November 2009 and October 2010, data on caregiver stigma and functional outcomes were collected from a sample of 282 PLS-caregiver dyads...
February 1, 2017: Social Science & Medicine
https://www.readbyqxmd.com/read/28212910/-to-see-with-my-own-eyes-experiences-of-family-visits-during-phase-1-recovery
#4
M Cecilia Wendler, Katherine Smith, Wanda Ellenburg, Rita Gill, Lea Anderson, Kim Spiegel-Thayer
PURPOSE: Long separations are a characteristic of the day of surgery, keeping patients and their family members waiting and apart. At a time of high vulnerability, these separations can cause anxiety and worry. The purpose of this study was to identify the outcomes and experiences of patients and family members who engaged in a 5- to 10-minute supervised family visit during phase I postanesthesia recovery. DESIGN: This was a descriptive, single-group, mixed-methods study...
February 2017: Journal of Perianesthesia Nursing: Official Journal of the American Society of PeriAnesthesia Nurses
https://www.readbyqxmd.com/read/28212736/tap73-upregulates-il-1%C3%AE-in-cancer-cells-potential-biomarker-in-lung-and-breast-cancer
#5
Polina Vikhreva, Varvara Petrova, Tarik Gokbulut, Ilias Pestlikis, Mara Mancini, Nicola Di Daniele, Richard A Knight, Gerry Melino, Ivano Amelio
p73 is a transcription factor belonging to the p53 tumour suppressor family. p73(-/-) mice exhibit a range of phenotypes including neurological, reproductive and inflammatory defects. Although the role of p73 in the control of genomic stability explains part of these phenotypes, a clear mechanism of how p73 participates in the inflammatory response is still elusive. Interleukin-1β (IL-1β) has a crucial role in mediating the inflammatory response. Because of its high potency to induce inflammation, the activation and secretion of IL-1β is tightly regulated by large protein complexes, named inflammasomes...
January 15, 2017: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/28212529/expression-of-the-cancer-stem-cell-markers-abcg2-and-oct-4-in-right-sided-colon-cancer-predicts-recurrence-and-poor-outcomes
#6
Jun Hu, Jian Li, Xin Yue, Jiacang Wang, Jianzhong Liu, Lin Sun, Dalu Kong
Right-sided colon cancer (RCC) has a poorer prognosis and a higher relapse rate than left-sided colon cancer (LCC). Like cancer stem cells (CSCs), RCC cells cannot be fully eradicated and are often involved in relapse or metastasis. Because CSCs may be linked with poor outcomes, CSC markers may have prognostic value in RCC. ATP-binding cassette sub-family G member 2 (ABCG2) and OCT-4 (also known as POU5F1) are among the most useful markers for CSC identification. We therefore examined the malignant behavior of ABCG2 and OCT-4 in vitro and in vivo, and their expression was assessed in pathology tissues obtained from clinicopathologically recurrent and non-recurrent cases...
February 14, 2017: Oncotarget
https://www.readbyqxmd.com/read/28212198/forensic-nursing-provides-closure-in-workplace-fatality
#7
Colin Harris
The Workers' Compensation Board of British Columbia in Canada is the provincial agency mandated to investigate workplace injuries and fatalities. In 2012, the Fatal and Serious Injuries Investigation section of this organization initiated the integration of forensic nursing expertise into the investigation of workplace incidents. The goals were to improve investigative outcomes and aid in prevention initiatives by achieving a more accurate understanding of incident causation through the application of forensic nursing science...
January 2017: Journal of Forensic Nursing
https://www.readbyqxmd.com/read/28212177/neurocognitive-outcomes-for-acute-global-acquired-brain-injury-in-children
#8
Fenella J Kirkham
PURPOSE OF REVIEW: In children, acute global brain injury from traumatic brain injury (TBI) and nontraumatic coma has a substantial cost to the child, the family, and the society. There have historically been relatively few studies looking at long-term cognition and behavioural outcomes. RECENT FINDINGS: Long-term follow-up studies, population-based studies, and meta-analyses are now available for TBI in children as well as adults and suggest that there is a significant cognitive cost, particularly for processing speed, working memory, and intelligence quotient (IQ) in severe TBI...
February 15, 2017: Current Opinion in Neurology
https://www.readbyqxmd.com/read/28211838/work-satisfaction-burnout-and-gender-based-inequalities-among-ophthalmologists-in-india-a-survey
#9
Akshay Gopinathan Nair, Pooja Jain, Aniruddha Agarwal, Vandana Jain
BACKGROUND: Ophthalmology is a rapidly evolving branch of medicine and advancing technology has raised the bar of patient expectations and outcomes. However, studies that assess physician stress and satisfaction especially in developing countries are limited in literature. OBJECTIVE: This index study aims at looking at the levels of job satisfaction, burnout and perception of gender disparity among ophthalmologists in India. METHODS: An Internet-based survey was sent out to ophthalmologists...
February 17, 2017: Work: a Journal of Prevention, Assessment, and Rehabilitation
https://www.readbyqxmd.com/read/28211824/impact-of-the-brain-injury-family-intervention-bifi-training-on-rehabilitation-providers-a-mixed-methods-study
#10
Cara Meixner, Cynthia R O'Donoghue, Vesna Hart
BACKGROUND: The psychological impact of TBI is vast, leading to adverse effects on survivors and their caregivers. Unhealthy family functioning may be mitigated by therapeutic strategies, particularly interdisciplinary family systems approaches like the well-documented Brain Injury Family Intervention (BIFI). Little is known about the experience of providers who offer such interventions. OBJECTIVE: This mixed method study aims to demonstrate that a structured three-day training on the BIFI protocol improves providers' knowledge and confidence in working with survivors and families, and that this outcome is sustainable...
February 15, 2017: NeuroRehabilitation
https://www.readbyqxmd.com/read/28211798/serum-microrna-376-family-as-diagnostic-and-prognostic-markers-in-human-gliomas
#11
Qing Huang, Changjiang Wang, Ziming Hou, Gang Wang, Jianghua Lv, Hao Wang, Jun Yang, Zhe Zhang, Hongbing Zhang
BACKGROUND: MicroRNA (miR)-376 family play crucial roles in cancer formation and progression. OBJECTIVE: To investigate expression patterns of circulating miR-376 members in glioma patients, and to explore their diagnostic and prognostic values. METHODS: Expression of miR-376 members in serum samples from 100 glioma patients and 50 healthy controls were detected by quantitative real-time PCR. RESULTS: Serum miR-376a, miR-376b and miR-376c in glioma patients were significantly lower than those in healthy controls (all P< 0...
February 3, 2017: Cancer Biomarkers: Section A of Disease Markers
https://www.readbyqxmd.com/read/28210835/a-10-year-review-of-cannabis-exposure-in-children-under-3-years-of-age-do-we-need-a-more-global-approach
#12
Isabelle Claudet, Mathilde Le Breton, Camille Bréhin, Nicolas Franchitto
: Pediatricians working in an emergency environment are confronted with children admitted to emergency departments for intoxication on a daily basis. We carried out a retrospective cohort study of children admitted to a pediatric emergency department due to unintentional cannabis exposure over a 10-year period from 2004 to 2014. Twenty-nine children under the age of 3 were admitted with a positive cannabis urine test. Eighty-seven percent of intoxications occurred at the family home. Resin was the main form of ingested cannabis (69%)...
February 16, 2017: European Journal of Pediatrics
https://www.readbyqxmd.com/read/28210482/delayed-interval-delivery-can-save-the-second-twin-evidence-from-a-systematic-review
#13
REVIEW
S Feys, Y Jacquemyn
BACKGROUND: In case of preterm birth in twins, it is not well established if the second twin benefits from a delayed-interval delivery. OBJECTIVE: The main objective of this systematic review is to evaluate survival benefit of the second twin from delayed interval delivery compared to the first twin. Secondly, we will evaluate the survival benefit of the procedure when performed equal to or after 24 weeks gestational age of the first born. METHODS: Delayed interval delivery was defined as every attempt to perform a delayed interval delivery with at minimum placement of a high ligature of the umbilical cord and a delay of delivery of at least 24 hours...
December 2016: Facts, Views & Vision in ObGyn
https://www.readbyqxmd.com/read/28210404/infraorbital-nerve-decompression-for-infraorbital-neuralgia-causalgia-following-blowout-orbital-fractures-a-case-series
#14
Bijan Beigi, Mazda Beigi, Nuwan Niyadurupola, Manuel Saldana, Nabil El-Hindy, Deepak Gupta
The purpose of this study was to present the management of a series of patients referred with infraorbital nerve paraesthesia that developed after insignificant orbital floor fracture without diplopia or exophthalmos, and that did not require initial surgical repair. This is a retrospective interventional case series. The main outcome and measures were assessment of preoperative symptoms including neuralgia and sensory symptoms; review of periorbital computed tomography (CT) scans; and assessment of postoperative effects of surgery for infraorbital nerve decompression...
March 2017: Craniomaxillofacial Trauma & Reconstruction
https://www.readbyqxmd.com/read/28210352/risk-of-skin-and-soft-tissue-infections-among-children-found-to-be-staphylococcus-aureus-mrsa-usa300-carriers
#15
Lilly Cheng Immergluck, Shabnam Jain, Susan M Ray, Robert Mayberry, Sarah Satola, Trisha Chan Parker, Keming Yuan, Anaam Mohammed, Robert C Jerris
INTRODUCTION: The purpose of this study was to examine community-associated methicillin resistant Staphylococcus aureus (CA-MRSA) carriage and infections and determine risk factors associated specifically with MRSA USA300. METHODS: We conducted a case control study in a pediatric emergency department. Nasal and axillary swabs were collected, and participants were interviewed for risk factors. The primary outcome was the proportion of S. aureus carriers among those presenting with and without a skin and soft tissue infection (SSTI)...
February 2017: Western Journal of Emergency Medicine
https://www.readbyqxmd.com/read/28209722/long-term-outcome-of-hematopoietic-stem-cell-transplantation-for-il2rg-jak3-scid-a-cohort-report
#16
Intan Juliana Abd Hamid, Mary A Slatter, Fiona McKendrick, Mark S Pearce, Andrew R Gennery
Hematopoietic stem cell transplantation (HSCT) cures the T-lymphocyte, B-lymphocyte and Natural Killer (NK) cell differentiation defect in IL2RG/JAK3 SCID. We evaluated long-term clinical features, longitudinal immunoreconstitution, donor chimerism and quality of life (QoL) of IL2RG/JAK3 SCID patients >2 years post-HSCT at our center. Clinical data were collated and patients/families answered PedsQL Generic Core Scale v4.0 questionnaires. We performed longitudinal analyses of CD3+, CD4+ naïve T-lymphocyte, CD19+ and NK cell numbers from pre-transplant until 15 years post-transplant...
February 16, 2017: Blood
https://www.readbyqxmd.com/read/28209702/primary-care-specialty-career-choice-among-canadian-medical-students-understanding-the-factors-that-influence-their-decisions
#17
Heather Ann Osborn, Jordan T Glicksman, Michael G Brandt, Philip C Doyle, Kevin Fung
OBJECTIVE: To identify which factors influence medical students' decision to choose a career in family medicine and pediatrics, and which factors influence their decision to choose careers in non-front-line specialties. DESIGN: Survey that was created based on a comprehensive literature review to determine which factors are considered important when choosing practice specialty. SETTING: Ontario medical school. PARTICIPANTS: An open cohort of medical students in the graduating classes of 2008 to 2011 (inclusive)...
February 2017: Canadian Family Physician Médecin de Famille Canadien
https://www.readbyqxmd.com/read/28209606/long-term-experiences-of-norwegian-live-kidney-donors-qualitative-in-depth-interviews
#18
Käthe B Meyer, Ida Torunn Bjørk, Astrid Klopstad Wahl, Annette Lennerling, Marit Helen Andersen
OBJECTIVE: Live kidney donation is generally viewed as a welcome treatment option for severe kidney disease. However, there is a disparity in the body of research on donor experiences and postdonation outcome, and lack of knowledge on long-term consequences described by the donors. This study was conducted to provide insight into donors' subjective meanings and interpretation of their experiences ∼10 years after donation. DESIGN: Qualitative explorative in-depth interviews...
February 16, 2017: BMJ Open
https://www.readbyqxmd.com/read/28209175/effectiveness-of-topical-silicone-gel-and-pressure-garment-therapy-for-burn-scar-prevention-and-management-in-children-study-protocol-for-a-randomised-controlled-trial
#19
Jodie Wiseman, Megan Simons, Roy Kimble, Robert Ware, Steven McPhail, Zephanie Tyack
BACKGROUND: Abnormal scar development following burn injury can cause substantial physical and psychological distress to children and their families. Common burn scar prevention and management techniques include silicone therapy, pressure garment therapy, or a combination of both. Currently, no definitive, high-quality evidence is available for the effectiveness of topical silicone gel or pressure garment therapy for the prevention and management of burn scars in the paediatric population...
February 16, 2017: Trials
https://www.readbyqxmd.com/read/28209168/the-impact-of-preterm-birth-37%C3%A2-weeks-on-parents-and-families-a-cross-sectional-study-in-the-2%C3%A2-years-after-discharge-from-the-neonatal-intensive-care-unit
#20
Ashwini Lakshmanan, Meghana Agni, Tracy Lieu, Eric Fleegler, Michele Kipke, Philippe S Friedlich, Marie C McCormick, Mandy B Belfort
BACKGROUND: Little is known about the quality of life of parents and families of preterm infants after discharge from the neonatal intensive care unit (NICU). Our aims were (1) to describe the impact of preterm birth on parents and families and (2) and to identify potentially modifiable determinants of parent and family impact. METHODS: We surveyed 196 parents of preterm infants <24 months corrected age in 3 specialty clinics (82% response rate). Primary outcomes were: (1) the Impact on Family Scale total score; and (2) the Infant Toddler Quality of Life parent emotion and (3) time limitations scores...
February 16, 2017: Health and Quality of Life Outcomes
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