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Patient and family involvement

Y M Zheng, W Z Li, Z X Wang, W Zhang, H Lv, J X Xiao, Y Yuan
OBJECTIVE: To report thigh muscle magnetic resonance imaging (MRI) tests of four Chinese patients with dystrophinopathy with edema changes in adductor longus muscles that mimics adductor enthesopathy. METHODS: Four boys, who were from four unrelated families and aged from 5 to 11 years, were investigated because of the clinical manifestations including myalgia or muscle weakness or the incidental findings of elevated serum creatine kinase levels, and were diagnosed with dystrophinopathy by gene test of Duchenne muscular dystrophy (DMD)...
October 18, 2016: Beijing da Xue Xue Bao. Yi Xue Ban, Journal of Peking University. Health Sciences
Jacinto Mosquera Nogueira, Eva Rodríguez-Míguez
Alcohol dependence causes multiple problems not only for the person suffering dependence but also for others. In this study, the contingent valuation method is proposed to measure the intangible effects of alcohol dependence from the perspective of the persons directly involved: the patients and their relatives. Interviews were conducted with 145 patients and 61 relatives. Intangible effects of alcohol dependence were determined based on willingness to pay for a hypothetical treatment for dependence, with different success scenarios (100% and 50%)...
September 29, 2016: Adicciones
Abby R Rosenberg, Joanne Wolfe, Lori Wiener, Maureen Lyon, Chris Feudtner
Importance: For clinicians caring for adolescent patients living with progressive, life-threatening illness, discussions regarding prognosis, goals of care, and treatment options can be extremely challenging. While clinicians should respect and help to facilitate adolescents' emerging autonomy, they often must also work with parents' wishes to protect patients from the emotional distress of hearing bad news. Observations: We reviewed the ethical justifications for and against truth-telling, and we considered the published ethical and practice guidance, as well as the perspectives of patients, parents, and clinicians involved in these cases...
October 17, 2016: JAMA Pediatrics
Mabel Bohorquez, Ruta Sahasrabudhe, Angel Criollo, María Carolina Sanabria-Salas, Alejandro Vélez, Jorge Mario Castro, Juan Ricardo Marquez, Gilbert Mateus, Fernando Bolaños, Cesar Panqueva, Jose Ignacio Restrepo, Juan Dario Puerta, Raul Murillo, María Mercedes Bravo, Gustavo Hernández, Angela Rios, Rodrigo Prieto, Ian Tomlinson, Magdalena Echeverry, Luis G Carvajal-Carmona
Colorectal cancer (CRC) is a major public health problem, and its incidence is rising in developing countries. However, studies characterizing CRC clinicopathological features in cases from developing countries are still lacking. The goal of this study was to evaluate clinicopathological and demographic features in one of the largest CRC studies in Latin America.The study involved over 1525 CRC cases recruited in a multicenter study in Colombia between 2005 and 2014 as part of ongoing genetic and epidemiological studies...
October 2016: Medicine (Baltimore)
Mimi Jenko, Nancy M Short
Bereavement services for families are an established part of hospice and palliative care. However, patients also die in the acute care and long-term care environments. Often, hospice is not involved, creating a potential gap in care. This article recounts a journey to improve care for all families of deceased patients, despite the presence or absence of hospice. A palliative care clinical nurse specialist led a quality improvement team, which used a systems thinking approach to develop and implement a downloadable bereavement booklet for families...
November 2016: Dimensions of Critical Care Nursing: DCCN
Xiubing Zhang, Lu Hua, Daliang Yan, Fengbo Zhao, Jinxia Liu, Huiling Zhou, Jie Liu, Miaomiao Wu, Chengliang Zhang, Yingying Chen, Buyou Chen, Baoying Hu
Poly(C)‑binding protein 2 (PCBP2) is a member of the PCBP family, and plays an important role in post‑transcriptional and translational regulation of various signaling molecules through direct binding to single‑stranded poly(C) motifs. PCBP2 has been reported to play a critical role in the development of multiple human tumors. However, whether PCBP2 participates in hepatocellular carcinoma (HCC) development remains largely elusive. Herein, we showed that PCBP2 was upregulated in human HCC tissues and cell lines...
October 13, 2016: Oncology Reports
Li Qi, Zhong Lu, Yong-Hong Sun, Hai-Tao Song, Wei-Kang Xu
Prostate carcinoma is a devastating disease which is characterized by insidious early symptoms, rapid progression and a poor prognosis. Tripartite motif-containing protein 16 (TRIM16) was identified as an estrogen- and antiestrogen-regulated gene in epithelial cells stably expressing estrogen receptors. The protein encoded by this gene contains two B-box domains and a coiled-coiled region that are characteristic of the B-box zinc finger protein family. Proteins belonging to this family have been reported to be involved in a variety of biological processes including cell growth, differentiation and pathogenesis...
October 17, 2016: International Journal of Molecular Medicine
F Faião-Flores, D K Alves-Fernandes, P C Pennacchi, S Sandri, A L S A Vicente, C Scapulatempo-Neto, V L Vazquez, R M Reis, J Chauhan, C R Goding, K S Smalley, S S Maria-Engler
BRAF inhibitor (BRAFi) therapy for melanoma patients harboring the V600E mutation is initially highly effective, but almost all patients relapse within a few months. Understanding the molecular mechanisms underpinning BRAFi-based therapy is therefore an important issue. Here we identified a previously unsuspected mechanism of BRAFi resistance driven by elevated Hedgehog (Hh) pathway activation that is observed in a cohort of melanoma patients after vemurafenib treatment. Specifically, we demonstrate that melanoma cell lines, with acquired in vitro-induced vemurafenib resistance, show increased levels of glioma-associated oncogene homolog 1 and 2 (GLI1/GLI2) compared with naïve cells...
October 17, 2016: Oncogene
Sarah R Brand, Karen Fasciano, Jennifer W Mack
PURPOSE: The American Academy of Pediatrics recommends that healthcare providers communicate information to patients in a truthful and developmentally appropriate manner. However, there is limited guidance about how to translate these recommendations into clinical practice. The aim of this study was to explore how young cancer patients experienced communication around their illness, especially communication about possible outcomes from disease or treatment. METHODS: Participants included young people ages 8 to under 18 years with cancer (N = 16)...
October 17, 2016: Supportive Care in Cancer: Official Journal of the Multinational Association of Supportive Care in Cancer
Donald Nuss, Robert J Obermeyer, Robert E Kelly
Historically, pectus excavatum (PE) was reported to be congenital, but in our experience only 22% are noticed in the first decade of life. Thus far, genetic studies support an autosomal recessive heritability, which coincides with only 40% of our patients having some positive family history, but is also contradictory given a constant sex ratio of 4:1 in favor of males. This inconsistency may be explained by the effect of more than one pectus disease-associated allele. Once the deformity is noticed, it tends to progress slowly until puberty, when rapid progression is often seen...
September 2016: Annals of Cardiothoracic Surgery
Subha Ghosh, Rahul Renapurkar, Subha V Raman
BACKGROUND: The objective of this study was to evaluate patients with known hereditary cardiac conduction and myocardial disease (HCCMD) caused by a lamin A/C gene mutation for skeletal muscle involvement using magnetic resonance imaging (MRI) computed tomography (CT). METHODS: Twenty-one patients with the diagnosis of HCCMD were available for study. Of these 21, 11 had MRI scans of the lower legs. The 11 that had an MRI were compared to a control group of 17 healthy controls...
October 2016: Cardiovascular Diagnosis and Therapy
Jennifer Kirsty Harrison, Azucena Garcia Garrido, Sarah J Rhynas, Gemma Logan, Alasdair M J MacLullich, Juliet MacArthur, Susan Shenkin
BACKGROUND: institutionalisation following acute hospital admission is common and yet poorly described, with policy documents advising against this transition. OBJECTIVE: to characterise the individuals admitted to a care home on discharge from an acute hospital admission and to describe their assessment. DESIGN AND SETTING: a retrospective cohort study of people admitted to a single large Scottish teaching hospital. SUBJECTS: 100 individuals admitted to the acute hospital from home and discharged to a care home...
October 15, 2016: Age and Ageing
Huaizhou Wang, Beiying Wu, Lei Li, Liang Hu, Jiafei Lin, Cen Jiang, Gang Cai, Qian Shen
Similar to programmed death-1 (PD-1), B and T lymphocyte attenuator (BTLA) is a co-inhibitory molecule of the CD28 family. PD-1 is involved in T cell exhaustion during chronic viral infection. However, the role of BTLA in virus-specific T cells is poorly defined. Here we investigated the expression and function of BTLA in T cells from patients with chronic hepatitis B virus (HBV) infection. The phenotype of peripheral and intrahepatic HBV-specific T cells from 43 patients with chronic HBV infection was assessed by flow cytometry...
October 6, 2016: Cellular Immunology
Francisca Caimari, Márta Korbonits
Recently, a number of novel genetic alterations have been identified that predispose individuals to pituitary adenomas. Clinically relevant pituitary adenomas are relatively common, present in 0.1% of the general population. They are mostly benign monoclonal neoplasms that arise from any of the five hormone-secreting cell types of the anterior lobe of the pituitary gland, and cause disease due to hormonal alterations and local space-occupying effects. The pathomechanism of pituitary adenomas includes alterations in cell-cycle regulation and growth factor signaling, which are mostly due to epigenetic changes; somatic and especially germline mutations occur more rarely...
October 15, 2016: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
Xiang Yuan, Jinyu Kong, Zhikun Ma, Na Li, Ruinuo Jia, Yiwen Liu, Fuyou Zhou, Qimin Zhan, Gang Liu, Shegan Gao
Our studies investigating the existence of tumor-initiating cell (TIC) populations in human esophageal squamous cell carcinoma (ESCC) had identified a subpopulation of cells isolated from ESCC patient-derived tumor specimens marked by an ALDH(bri+) phenotype bear stem cell-like features. Importantly, KDM4C, a histone demethylase was enhanced in ALDH(bri+) subpopulation, suggesting that strategies interfering with KDM4C may be able to target these putative TICs. In the present study, by genetic and chemical means, we demonstrated that, KDM4C blockade selectively decreased the ESCC ALDH(bri+) TICs population in vitro and specifically targeted the TICs in ALDH(bri+)-derived xenograft, retarding engraftment...
October 2016: Neoplasia: An International Journal for Oncology Research
Franca Benini, Roberta Vecchi, Pierina Lazzarin, Momcilo Jankovic, Luciano Orsi, Luca Manfredini, Paola Drigo, Valentina Sellaroli, Michele Gangemi, Marco Spizzichino, Marcello Orzalesi
PURPOSE: The death of a child is a devastating and tragic event for all those involved. This charter aims to help healthcare workers and people assisting terminally ill children to recognize some important rights of the child, with some related suggestions. We consider it important to have a trace of this process, based on the skillfulness of long-lasting experts. METHODS: In September 2012, a group of professionals working with children affected by incurable illness in Italy launched a project to formulate the charter...
October 8, 2016: Tumori
Trinath Kumar Mishra, Biswajit Das
BACKGROUND: Coronary artery disease (CAD) is rising in epidemic proportions with India not being an exception. CAD in Indian scenario has its onset at a younger age with multitude of risk factors. OBJECTIVE: This study was carried out to obtain complete information about demographic profile, risk factors, clinical scenario, therapeutic modalities, natural course, outcome and changing profile of acute ST-segment elevated myocardial infarction (STEMI) patients. METHODS: This cross-sectional study was conducted in 45,122 acute STEMI patients admitted 1st March 1990 to 1st March 2014...
June 2016: Journal of the Association of Physicians of India
Marco Ritelli, Silvia Morlino, Edoardo Giacopuzzi, Giulia Carini, Valeria Cinquina, Nicola Chiarelli, Silvia Majore, Marina Colombi, Marco Castori
Filamin A is an X-linked, ubiquitous actin-binding protein whose mutations are associated to multiple disorders with limited genotype-phenotype correlations. While gain-of-function mutations cause various bone dysplasias, loss-of-function variants are the most common cause of periventricular nodular heterotopias with variable soft connective tissue involvement, as well as X-linked cardiac valvular dystrophy (XCVD). The term "Ehlers-Danlos syndrome (EDS) with periventricular heterotopias" has been used in females with neurological, cardiovascular, integument and joint manifestations, but this nosology is still a matter of debate...
October 14, 2016: American Journal of Medical Genetics. Part A
Julie Easley, Baukje Miedema, June C Carroll, Donna P Manca, Mary Ann O'Brien, Fiona Webster, Eva Grunfeld
OBJECTIVE: To explore health care provider (HCP) perspectives on the coordination of cancer care between FPs and cancer specialists. DESIGN: Qualitative study using semistructured telephone interviews. SETTING: Canada. PARTICIPANTS: A total of 58 HCPs, comprising 21 FPs, 15 surgeons, 12 medical oncologists, 6 radiation oncologists, and 4 GPs in oncology. METHODS: This qualitative study is nested within a larger mixed-methods program of research, CanIMPACT (Canadian Team to Improve Community-Based Cancer Care along the Continuum), focused on improving the coordination of cancer care between FPs and cancer specialists...
October 2016: Canadian Family Physician Médecin de Famille Canadien
Jeffrey Sisler, Genevieve Chaput, Jonathan Sussman, Emmanuel Ozokwelu
OBJECTIVE: To offer FPs a summary of evidence-based recommendations to guide their follow-up survivorship care of women treated for breast cancer. QUALITY OF EVIDENCE: A literature search was conducted in MEDLINE from 2000 to 2016 using the search words breast cancer, survivorship, follow-up care, aftercare, guidelines, and survivorship care plans, with a focus on review of recent guidelines published by national cancer organizations. Evidence ranges from level I to level III...
October 2016: Canadian Family Physician Médecin de Famille Canadien
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