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https://www.readbyqxmd.com/read/29904160/genetic-evaluation-of-cardiomyopathy-a-clinical-practice-resource-of-the-american-college-of-medical-genetics-and-genomics-acmg
#1
Ray E Hershberger, Michael M Givertz, Carolyn Y Ho, Daniel P Judge, Paul F Kantor, Kim L McBride, Ana Morales, Matthew R G Taylor, Matteo Vatta, Stephanie M Ware
PURPOSE: The purpose of this document is to provide updated guidance for the genetic evaluation of cardiomyopathy and for an approach to manage secondary findings from cardiomyopathy genes. The genetic bases of the primary cardiomyopathies (dilated, hypertrophic, arrhythmogenic right ventricular, and restrictive) have been established, and each is medically actionable; in most cases established treatments or interventions are available to improve survival, reduce morbidity, and enhance quality of life...
June 14, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29902964/australian-standards-of-care-and-treatment-guidelines-for-transgender-and-gender-diverse-children-and-adolescents
#2
Michelle M Telfer, Michelle A Tollit, Carmen C Pace, Ken C Pang
The Australian standards of care and treatment guidelines aim to maximise quality care provision to transgender and gender diverse (TGD) children and adolescents across Australia, while recognising the unique circumstances of providing such care to this population. Recommendations are made based on available empirical evidence and clinician consensus, and have been developed in consultation with Australian professionals from multiple disciplines working with the TGD population, TGD support organisations, as well as TGD children and adolescents and their families...
June 18, 2018: Medical Journal of Australia
https://www.readbyqxmd.com/read/29896154/basis-and-design-of-a-randomized-clinical-trial-to-evaluate-the-effect-of-levosulpiride-on-retinal-alterations-in-patients-with-diabetic-retinopathy-and-diabetic-macular-edema
#3
Ma Ludivina Robles-Osorio, Renata García-Franco, Carlos D Núñez-Amaro, Ximena Mira-Lorenzo, Paulina Ramírez-Neria, Wendy Hernández, Ellery López-Star, Thomas Bertsch, Gonzalo Martínez de la Escalera, Jakob Triebel, Carmen Clapp
Background: Diabetic retinopathy (DR) and diabetic macular edema (DME) are potentially blinding, microvascular retinal diseases in people with diabetes mellitus. Preclinical studies support a protective role of the hormone prolactin (PRL) due to its ocular incorporation and conversion to vasoinhibins, a family of PRL fragments that inhibit ischemia-induced retinal angiogenesis and diabetes-derived retinal vasopermeability. Here, we describe the protocol of an ongoing clinical trial investigating a new therapy for DR and DME based on elevating the circulating levels of PRL with the prokinetic, dopamine D2 receptor blocker, levosulpiride...
2018: Frontiers in Endocrinology
https://www.readbyqxmd.com/read/29893038/patient-information-needs-in-upper-gastrointestinal-cancer-what-patients-and-their-families-want-to-know
#4
REVIEW
Bacil Otutaha, Sanket Srinivasa, Jonathan Koea
BACKGROUND: The treatment of upper gastrointestinal cancer (UGIC) patients is complex. Patients are often elderly, comorbid as well as nutritionally depleted and treatment involves multimodality therapy incorporating chemotherapy, radiation therapy and surgery. The pre-treatment information requirements of UGIC patients are not clear but crucially important in ensuring they complete treatment successfully. METHODS: A systematic review of the English language literature was performed to determine the specific information needs of patients with UGIC...
June 11, 2018: ANZ Journal of Surgery
https://www.readbyqxmd.com/read/29887791/axillary-web-syndrome-in-breast-cancer-a-prevalent-but-under-recognized-postoperative-complication
#5
REVIEW
Susan R Harris
The purpose of this review is to define axillary web syndrome (AWS) and describe its diagnosis and management. The following databases were searched through July 2017: PubMed, EMBASE (OvidSP), Cumulative Index for Nursing and Allied Health Literature, Physiotherapy Evidence Database, and Cochrane Database of Systematic Reviews. Search terms included 'axillary web syndrome', 'axillary cording', and 'lymphatic cording'. 49 articles were identified; 8 did not relate to breast cancer, and 3 were not in English...
April 2018: Breast Care
https://www.readbyqxmd.com/read/29886607/-relationship-between-phenotype-and-genotype-of-abcb11-deficiency-in-siblings-and-literature-review
#6
X R Peng, Y Lu, M H Zhang, L T Li, X B Xie, J Y Gong, J S Wang
Objective: To explore the relationship between genotype and phenotype of ABCB11 deficiency. Methods: Clinical data of two siblings with ABCB11 deficiency were retrospectively analyzed. Related literature from PubMed, CNKI and Wangfang databases was reviewed to date (up to August 2017) with 'ABCB11 gene' or 'bile salt export pump', 'cholestasis' and 'child' as key words. Results: The patients were siblings. Both of them presented as jaundice, pruritus and hepatosplenomegaly since 3 days after birth. Significant laboratory findings on admission of the older sister included high total bilirubin, 170 µmol/L;conjugated bilirubin, 115...
June 2, 2018: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/29885754/prevalence-of-brain-injuries-among-children-with-special-healthcare-needs
#7
Lydie A Lebrun-Harris, Sarika Rane Parasuraman, Rebecca Desrocher
OBJECTIVES: To investigate differences in brain injury prevalence among US children by special healthcare needs status, accounting for sociodemographic and family characteristics, and to examine correlated health conditions among children with special healthcare needs (CSHCN). STUDY DESIGN: We conducted cross-sectional analyses using parent/caregiver responses to the 2016 National Survey of Children's Health (n = 50 212 children). CSHCN status was based on responses to a 5-item tool designed to identify children through assessment of functional limitations, prescription medication use, elevated service use or need, use of specialized therapies, and ongoing emotional, developmental, or behavioral conditions...
June 6, 2018: Journal of Pediatrics
https://www.readbyqxmd.com/read/29881922/cholesterol-profile-in-women-with-premature-menopause-after-risk-reducing-salpingo-oophorectomy
#8
Natalia Teixeira, Marian J Mourits, Jan C Oosterwijk, Ingrid E Fakkert, Anthony R Absalom, Stephan J L Bakker, Peter van der Meer, Geertruida H de Bock
This cross-sectional study aimed to investigate the effect of premenopausal risk reducing salpingo-oophorectomy (RRSO) on the cholesterol profile of women at increased ovarian cancer risk and to assess possible effects of age at and time since RRSO. We included 207 women who underwent RRSO before menopausal age (52 years) attending the family cancer clinic of an academic hospital and 828 age-matched women from a general population cohort (PREVEND). Participants filled out a questionnaire on socio-demographic characteristics, lifestyle and medical history, had anthropometric measurements and provided blood samples for assessment of serum levels of total cholesterol, HDL-cholesterol and non-HDL-cholesterol...
June 7, 2018: Familial Cancer
https://www.readbyqxmd.com/read/29881898/when-religion-and-medicine-clash-non-beneficial-treatments-and-hope-for-a-miracle
#9
Philip M Rosoff
Patient and family demands for the initiation or continuation of life-sustaining medically non-beneficial treatments continues to be a major issue. This is especially relevant in intensive care units, but is also a challenge in other settings, most notably with cardiopulmonary resuscitation. Differences of opinion between physicians and patients/families about what are appropriate interventions in specific clinical situations are often fraught with highly strained emotions, and perhaps none more so when the family bases their desires on religious belief...
June 7, 2018: HEC Forum: An Interdisciplinary Journal on Hospitals' Ethical and Legal Issues
https://www.readbyqxmd.com/read/29879466/a-paradoxical-thrombogenic-mutation-in-factor-ii-at-the-target-site-of-arthropod-bleeding-toxin
#10
Toshiki Takenouchi, Hiroyuki Shimada, Tomoko Uehara, Yae Kanai, Takao Takahashi, Kenjiro Kosaki
Loss-of-function mutations in coagulation cascade proteins lead to bleeding diasthesis. In contrast, gain-of-function mutations in these proteins, which are exceptionally rare, lead to hereditary thrombosis. This is best exemplified by Factor V (i.e., Factor V Leiden) and Factor II (i.e., p.Arg596Leu). Here, we report a family with hereditary thrombosis. The proposita presented with cerebral venous thrombosis accompanied by infarction at the age of 12 years. Despite anticoagulation therapy with oral warfarin, she later developed deep venous thrombosis in her hepatic portal veins at the age of 27 years...
June 4, 2018: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29877724/cost-effectiveness-analysis-of-trauma-focused-cognitive-behavioral-therapy-a-randomized-control-trial-among-norwegian-youth
#11
Eline Aas, Tor Iversen, Tonje Holt, Silje M Ormhaug, Tine K Jensen
Traumatic events by young people can adversely affect their psychological and social well-being when left untreated. This can result in high costs for society. In this study, we aimed to evaluate whether trauma-focused cognitive behavioral therapy (TF-CBT) is a cost-effective alternative to therapy as usual (TAU). Individual-level data were collected from 2008 to 2013, as part of a randomized control trial in Norwegian youth, 10-18 years of age, presenting with symptoms of posttraumatic stress (N = 156)...
June 7, 2018: Journal of Clinical Child and Adolescent Psychology
https://www.readbyqxmd.com/read/29875956/macrophage-activation-syndrome-associated-with-griscelli-syndrome-type-2-case-report-and-review-of-literature
#12
Zakia Sefsafi, Brahim El Hasbaoui, Amina Kili, Aomar Agadr, Mohammed Khattab
Macrophage activation syndrome (MAS) is a severe and potentially fatal life-threatening condition associated with excessive activation and expansion of T cells with macrophages and a high expression of cytokines, resulting in an uncontrolled inflammatory response, with high levels of macrophage colony-stimulating factor and causing multiorgan damage. This syndrome is classified into primary (genetic/familial) or secondary forms to several etiologies, such as infections, neoplasias mainly hemopathies or autoimmune diseases...
2018: Pan African Medical Journal
https://www.readbyqxmd.com/read/29874136/financial-hardship-and-the-economic-effect-of-childhood-cancer-survivorship
#13
Paul C Nathan, Tara O Henderson, Anne C Kirchhoff, Elyse R Park, K Robin Yabroff
In addition to the long-term physical and psychological sequelae of cancer therapy, adult survivors of childhood cancer are at an elevated risk for financial hardship. Financial hardship can have material, psychological, and behavioral effects, including high out-of-pocket medical costs, asset depletion and debt, limitations in or inability to work, job lock, elevated stress and worry, and a delaying or forgoing of medical care because of cost. Most financial hardship research has been conducted in survivors of adult cancers...
June 6, 2018: Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology
https://www.readbyqxmd.com/read/29870295/development-of-antiresorptive-agent-related-osteonecrosis-of-the-jaw-after-dental-implant-removal-a-case-report
#14
Shinsuke Yamamoto, Keigo Maeda, Izumi Kouchi, Yuzo Hirai, Naoki Taniike, Daisuke Yamashita, Yukihiro Imai, Toshinobu Takenobu
Dental implant treatment is a highly predictable therapy, but when potentially lethal symptoms or complications occur, dentists must remove the implant fixture. Reports on antiresorptive agent-related osteonecrosis of the jaw have increased in the field of dental implants recently, although the relationship between dental implant treatment and antiresorptive agents remains unclear. Here we report a case of antiresorptive agent-related osteonecrosis of the jaw that developed after dental implant removal. A 67-year-old Japanese woman with a medical history of osteoporosis and 7 years of oral bisphosphonate treatment was referred to our hospital with a chief complaint of painful right mandibular bone exposure...
June 5, 2018: Journal of Oral Implantology
https://www.readbyqxmd.com/read/29863817/lipid-lowering-therapy-with-pcsk9-inhibitors-in-the-real-world-setting-two-year-experience-of-a-regional-lipid-clinic
#15
Barak Zafrir, Ayman Jubran
AIM: PCSK9 inhibitors (PCSK9i) effectively lower cholesterol levels in randomized trials with reduction in cardiovascular outcomes and favorable safety profile. However, the access to PCSK9i is limited due to high cost and data regarding the use of PCSK9i in real-world practice is limited. METHODS: Data on all patients submitted for approval of PCSK9i at a regional lipid clinic, outside of clinical trials. Patients' profile, approval rates, low-density lipoprotein cholesterol (LDL-C) reduction rates and adverse events were evaluated...
June 4, 2018: Cardiovascular Therapeutics
https://www.readbyqxmd.com/read/29863050/-a-clinical-pathway-based-on-medical-and-nursing-teamwork-in-drug-management-facilitates-integrated-community-care-for-elderly-patients-with-chronic-heart-failure
#16
Noboru Watanabe, Go Morikawa, Ken Kubota, Katsuko Okazawa, Chieko Tanaka, Mieko Horiuchi
 Chronic heart failure (CHF) is a critical disease in the aging population. Conventional therapy in hospitals cannot cure elderly patients with CHF at the end of life. Patients and their families experience anxiety and need comfortable care at home or in a nursing facility. To improve chronic cardiovascular disease management, we developed a simplified but integrated clinical pathway to facilitate medical and nursing care teamwork in the local community. Our institution is a central hospital in the North Shinshu district, which has an approximate population of 100000...
2018: Yakugaku Zasshi: Journal of the Pharmaceutical Society of Japan
https://www.readbyqxmd.com/read/29860920/pilot-study-assessing-the-direct-medical-cost-of-treating-patients-with-cancer-in-kenya-findings-and-implications-for-the-future
#17
Omondi Michelle Atieno, Sylvia Opanga, Antony Martin, Amanj Kurdi, Brian Godman
BACKGROUND: Currently the majority of cancer deaths occur in low and middle-income countries where there are appreciable funding concerns. In Kenya, most patients currently pay out of pocket for treatment and those who are insured are generally not covered for the full costs of treatment. This places a considerable burden on households if family members develop cancer. However, the actual cost of cancer treatment in Kenya is unknown. Such an analysis is essential to better allocate resources as Kenya strives towards universal healthcare...
June 2, 2018: Journal of Medical Economics
https://www.readbyqxmd.com/read/29860760/-the-influence-of-molecular-classification-of-breast-cancer-on-the-safety-of-breast-conserving-surgery
#18
Y Li, L Mu, Y X Ruan, Y T Wang, D Zhang, H Zhou, X Wang
Objective: To analyze the relationship between the breast cancer molecular classification and the prognosis of patients underwent breast-conserving therapy and to discuss the safety of the breast conserving surgery from the choice of operation in terms of breast cancer molecular classification. Methods: Clinical data of 618 patients with breast-conserving therapy in Tianjin Medical University Cancer Institute and Hospital from August 2005 to August 2010 were analyzed retrospectively. According to the molecular classification when breast cancer was diagnosed, patients were subdivided into five groups, including Luminal A, Luminal B1, Luminal B2, HER-2-positive and Triple-negative...
May 23, 2018: Zhonghua Zhong Liu za Zhi [Chinese Journal of Oncology]
https://www.readbyqxmd.com/read/29847600/mutation-spectrum-analysis-of-duchenne-becker-muscular-dystrophy-in-68-families-in-kuwait-the-era-of-personalized-medicine
#19
Fawziah Mohammed, Alaa Elshafey, Haya Al-Balool, Hayat Alaboud, Mohammed Al Ben Ali, Adel Baqer, Laila Bastaki
Duchenne and Becker muscular dystrophies (DMD/BMD) are X-linked recessive neuromuscular disorders characterized by progressive irreversible muscle weakness and atrophy that affect both skeletal and cardiac muscles. DMD/BMD is caused by mutations in the Dystrophin gene on the X chromosome, leading to the absence of the essential muscle protein Dystrophin in DMD. In BMD, Dystrophin is partially functioning with a shorter protein product. Recent advances in molecular therapies for DMD require precise genetic diagnoses because most therapeutic strategies are mutation-specific...
2018: PloS One
https://www.readbyqxmd.com/read/29846838/the-national-registry-of-retinoblastoma-in-japan-1983-2014
#20
(no author information available yet)
PURPOSE: To review the clinical findings of retinoblastoma recorded over a period of 32 years by the National Registry of Retinoblastoma in Japan. STUDY DESIGN: Retrospective. METHODS: We reviewed the diagnoses, clinical pictures, and treatment data recorded on a yearly basis from 1983 until 2014 by major Japanese medical facilities. RESULTS: A total of 2360 patients (1225 boys, 1135 girls) were analyzed. Of those, 67...
May 30, 2018: Japanese Journal of Ophthalmology
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