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Patient and family involvement

Ruwan Weerakkody, David Ross, David A Parry, Bulat Ziganshin, Jana Vandrovcova, Piyush Gampawar, Abdulshakur Abdullah, Jennifer Biggs, Julia Dumfarth, Yousef Ibrahim, Colin Bicknell, Mark Field, John Elefteriades, Nick Cheshire, Timothy J Aitman
PurposeThoracic aortic aneurysm/aortic dissection (TAAD) is a disorder with highly variable age of onset and phenotype. We sought to determine the prevalence of pathogenic variants in TAAD-associated genes in a mixed cohort of sporadic and familial TAAD patients and identify relevant genotype-phenotype relationships.MethodsWe used a targeted polymerase chain reaction and next-generation sequencing-based panel for genetic analysis of 15 TAAD-associated genes in 1,025 unrelated TAAD cases.ResultsWe identified 49 pathogenic or likely pathogenic (P/LP) variants in 47 cases (4...
March 15, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
Francesco Caso, Marco Tasso, Pasquale Ambrosino, Matteo Nicola, Dario Di Minno, Roberta Lupoli, Livio Criscuolo, Paolo Caso, Francesco Ursini, Antonio Del Puente, Raffaele Scarpa, Luisa Costa, Rosario Peluso
BACKGROUND: Psoriatic arthritis is a chronic inflammatory arthropathy that affects 14%-30% of patients with skin and/or nail psoriasis and leading to severe physical limitations and disability. It has been included in the group of spondyloarthropathy with which it shares clinical, radiologic, and serologic features in addition to familial and genetic relationship. Beyond skin and joint involvement, psoriatic arthritis is characterized by a high prevalence of extra-articular manifestation and comorbidities, such as autoimmune, infectious and neoplastic diseases...
March 13, 2018: Reviews on Recent Clinical Trials
Shivani Mishra, Himani Pandey, Priyanka Srivastava, Kausik Mandal, Shubha R Phadke
OBJECTIVE: To determine the prevalence and spectrum of Connexin 26 (GJB2) mutations in pre-lingual non-syndromic hearing loss (NSHL) patients in authors' centre and to review the data of Indian patients from the literature. METHODS: Sanger sequencing of entire coding region contained in single exon (Exon 2) of GJB2 gene in 15 patients of NSHL. RESULTS: GJB2 mutations were found in 40% (6/15) of NSHL patients, out of which mono-allelic were 33...
March 15, 2018: Indian Journal of Pediatrics
Peixuan Xia, Shihua Chu, Geng Liu, Guoqing Chen, Tao Yi, Shi Feng, Hongying Zhou
Kinesin Family Member 3A (KIF3A) was recognized as a key factor of ciliogenesis and transport system of primary cilia in normal cells. However, its possible function on cancer cells has yet to be identified. In the present study, microarray tissue chips, including 230 breast cancer samples, were applied to determine the KIF3A expression pattern by immunological histological chemistry. Statistical analysis on the KIF3A expression level and the currently used clinicopathological characteristics of breast cancer patients was carried out...
April 2018: Biomedical Reports
Manuela Germeshausen, Phil Ancliff, Jaime Estrada, Markus Metzler, Eva Ponstingl, Horst Rütschle, Dirk Schwabe, Richard H Scott, Sule Unal, Angela Wawer, Bernward Zeller, Matthias Ballmaier
Heterozygous mutations in MECOM (MDS1 and EVI1 complex locus) have been reported to be causative of a rare association of congenital amegakaryocytic thrombocytopenia and radioulnar synostosis. Here we report on 12 patients with congenital hypomegakaryocytic thrombocytopenia caused by MECOM mutations (including 10 novel mutations). The mutations affected different functional domains of the EVI1 protein. The spectrum of phenotypes was much broader than initially reported for the first 3 patients; we found familial as well as sporadic cases, and the clinical spectrum ranged from isolated radioulnar synostosis with no or mild hematological involvement to severe bone marrow failure without obvious skeletal abnormality...
March 27, 2018: Blood Advances
Sana B Ali, Juana Romero, Kevin Morrison, Baria Hafeez, Jessica S Ancker
OBJECTIVES:  Although electronic patient portals are offered by most health care organizations, poor usability and poor fit to patient needs may pose barriers to adoption. We collaborated with an academic hospital to conduct iterative user evaluation of a newly deployed portal designed to deliver inpatient data upon hospital discharge. METHODS:  Three evaluators applied heuristic usability evaluation and conducted 23 individual user testing sessions with patients with chronic disease or managing the care of family members with chronic disease...
January 2018: Applied Clinical Informatics
Filipe Prazeres, Luiz Santiago
Background: The presence of multimorbidity in the family practice setting is as evident as it is hard to measure. Objective: The objective of this study was to describe the differences in the prevalence of multimorbidity in a single primary care population, through the use of the only two available lists of chronic conditions based on the International Classification for Primary Care coding system. Methods: This is a cross-sectional, analytical study...
March 10, 2018: Family Practice
Stephanie M Topp, Chanda Mwamba, Anjali Sharma, Njekwa Mukamba, Laura K Beres, Elvin Geng, Charles B Holmes, Izukanji Sikazwe
BACKGROUND: Failure to keep people living with HIV engaged in life-long care and treatment has serious implications for individual and population-level health. Nested within a four-province study of HIV care and treatment outcomes, we explored the dynamic role of social and service-related factors influencing retention in HIV care in Zambia. METHODS: From a stratified random sample of 31 facilities, eight clinics were selected, one urban and one rural from each province...
2018: PloS One
Julia S Anixt, Jareen Meinzen-Derr, Halley Estridge, Laura Smith, William B Brinkman
OBJECTIVE: To describe the characteristics of treatment decisions to address challenging behaviors in children with autism spectrum disorder (ASD). METHODS: Parents of children aged 4 to 15 years with ASD seen in a developmental behavioral pediatric (DBP) clinic completed validated measures to characterize their child's behaviors and their own level of stress. Parents reported their treatment priority before the visit. During the visit, we assessed shared decision making (SDM) using the Observing Patient Involvement (OPTION) scale and alignment of the clinician's treatment plan with the parent's priority...
March 12, 2018: Journal of Developmental and Behavioral Pediatrics: JDBP
Amy O'Brien, Julie McCormack, Kimberley J Hoiles, Hunna J Watson, Rebecca A Anderson, Phillipa Hay, Sarah J Egan
OBJECTIVE: There are few evidence-based guidelines for inpatient pediatric eating disorders. The aim was to gain perspectives from those providing and receiving inpatient pediatric eating disorder care on the essential components treatment. METHOD: A modified Delphi technique was used to develop consensus-based opinions. Participants (N = 74) were recruited for three panels: clinicians (n = 24), carers (n = 31), and patients (n = 19), who endorsed three rounds of statements online...
March 14, 2018: International Journal of Eating Disorders
Antoine Guérin, Gaspard Kerner, Nico Marr, Janet G Markle, Florence Fenollar, Natalie Wong, Sabri Boughorbel, Danielle T Avery, Cindy S Ma, Salim Bougarn, Matthieu Bouaziz, Vivien Beziat, Erika Della Mina, Carmen Oleaga-Quintas, Tomi Lazarovt, Lisa Worley, Tina Nguyen, Etienne Patin, Caroline Deswarte, Rubén Martinez-Barricarte, Soraya Boucherit, Xavier Ayral, Sophie Edouard, Stéphanie Boisson-Dupuis, Vimel Rattina, Benedetta Bigio, Guillaume Vogt, Frédéric Geissmann, Lluis Quintana-Murci, Damien Chaussabel, Stuart G Tangye, Didier Raoult, Laurent Abel, Jacinta Bustamante, Jean-Laurent Casanova
Most humans are exposed to Tropheryma whipplei (Tw). Whipple's disease (WD) strikes only a small minority of individuals infected with Tw (<0.01%), whereas asymptomatic chronic carriage is more common (<25%). We studied a multiplex kindred, containing four WD patients and five healthy Tw chronic carriers. We hypothesized that WD displays autosomal dominant (AD) inheritance, with age-dependent incomplete penetrance. We identified a single very rare non-synonymous mutation in the four patients: the private R98W variant of IRF4, a transcription factor involved in immunity...
March 14, 2018: ELife
Mahmod Panahi, Naeimeh Yousefi Mesri, Eva-Britt Samuelsson, Kirsten G Coupland, Charlotte Forsell, Caroline Graff, Saara Tikka, Bengt Winblad, Matti Viitanen, Helena Karlström, Erik Sundström, Homira Behbahani
Cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a familial fatal progressive degenerative disorder. One of the pathological hallmarks of CADASIL is a dramatic reduction of vascular smooth muscle cells (VSMCs) in cerebral arteries. Using VSMCs from the vasculature of the human umbilical cord, placenta and cerebrum of CADASIL patients, we found that CADASIL VSMCs had a lower proliferation rate compared to control VSMCs. Exposure of control VSMCs and endothelial cells (ECs) to media derived from CADASIL VSMCs lowered the proliferation rate of all cells examined...
March 13, 2018: Journal of Cellular and Molecular Medicine
Shigeo Yamaguchi, Tomoaki Fujii, Yuki Izumi, Yuki Fukumura, Min Han, Hideki Yamaguchi, Tomomi Akita, Chikamasa Yamashita, Shunsuke Kato, Takao Sekiya
During next generation sequencing (NGS) analysis, many missense mutations were found in a well-known oncogene, many of which were variant of uncertain significance mutations. We recently treated an adult patient with pancreatoblastoma by chemotherapy. Using an NGS cancer panel, we found a previously unreported missense mutation in the 1835 codon of the adenomatous polyposis coli ( APC ) gene. We also found a heterogeneous mutation in the 1835 codon of the APC gene in the patient's germline by Sanger sequencing...
February 13, 2018: Oncotarget
Charlie Bridgewood, Gareth W Fearnley, Anna Berekmeri, Philip Laws, Tom Macleod, Sreenivasan Ponnambalam, Martin Stacey, Anne Graham, Miriam Wittmann
The IL-1 family member cytokine IL-36γ is recognised as key mediator in the immunopathology of psoriasis, hallmarks of which involve the activation of both resident and infiltrating inflammatory myeloid cells and aberrant angiogenesis. This research demonstrates a role for IL-36γ in both myeloid activation and angiogenesis. We show that IL-36γ induces the production of psoriasis-associated cytokines from macrophages (IL-23 and TNFα) and that this response is enhanced in macrophages from psoriasis patients...
2018: Frontiers in Immunology
Jinghua Liu, Zhen Yu, Yuanyuan Xiao, Qiong Meng, Yeying Wang, Wei Chang
Background: The Forkhead transcription family member FOXA2 plays a fundamental role in hepatocellular carcinoma (HCC) progression, but the precise interaction factor and molecular regulation of FOXA2 are not fully understood. Objective: In this study, we found that FOXA2 could interact with sirtuin 6 (SIRT6) directly in vivo and in vitro. We explored that the expressions of FOXA2 and SIRT6 were significantly downregulated in human HCC and HCC cell lines. Methods: Functionally, cell counting kit-8 assay and Transwell® assay were performed; we demonstrated that the knockdown of FOXA2 and SIRT6 promoted HepG2 cells and Huh7 cells proliferation and invasion in vitro...
2018: Cancer Management and Research
M R Khaitov, A R Gaisina, I P Shilovskiy, V V Smirnov, G V Ramenskaia, A A Nikonova, R M Khaitov
Interleukin-33 (IL-33) belongs to the IL-1 cytokine family and plays an important role in modulating immune system by inducing Th2 immune response via the ST2 membrane receptor. Epithelial cells are the major producers of IL-33. However, IL-33 is also secreted by other cells, e.g., bone marrow cells, dendritic cells, macrophages, and mast cells. IL-33 targets a broad range of cell types bearing the ST2 surface receptor. Many ST2-positive cells, such as Th2 cells, mast cells, basophils, and eosinophils, are involved in the development of allergic bronchial asthma (BA)...
January 2018: Biochemistry. Biokhimii︠a︡
Ewelina Gowin, Bogna Świątek-Kościelna, Ewelina Kałużna, Ewa Strauss, Jacek Wysocki, Jerzy Nowak, Michał Michalak, Danuta Januszkiewicz-Lewandowska
The aim of this study is to describe the prevalence of single single-nucleotide polymorphisms (SNPs) as well as their combinations in genes encoding proteins involved in the immune response in children with bacterial meningitis. The prospective study group consisted of 39 children with bacterial meningitis and 49 family members surveyed between 2012 and 2016. Eleven SNPs in five genes involved in immune response were analysed. The mean number of minor frequency alleles (MAF) of studied SNPs was lowest in the control group and highest in patients with pneumococcal meningitis...
January 1, 2018: Innate Immunity
Sarah Sanford, Mark J Rapoport, Holly Tuokko, Alexander Crizzle, Stephanie Hatzifilalithis, Sarah Laberge, Gary Naglie
The purpose of this study on driving cessation was to explore the process of coping, decision-making and adaptation through this major life transition. We sought to examine understandings of the emotional responses of drivers and ex-drivers with dementia from the perspective of healthcare providers and family caregivers of persons with dementia. Interviews and focus groups were conducted with several key informant groups: healthcare providers who work with patients with dementia and their families ( N = 10), representatives from organizations that provide services and support for persons with dementia ( N = 6), and family caregivers of drivers and former drivers with dementia ( N = 13)...
January 1, 2018: Dementia
Yousheng Yan, Zhaoyan Meng, Shengju Hao, Fang Wang, Xiaohua Jin, Daguang Sun, Huafang Gao, Xu Ma
BACKGROUND: Dystrophic epidermolysis bullosa (DEB) is an inherited skin disorder with variable severity and heterogeneous genetic involvement. Recessive DEB (RDEB) is a rare heritable blistering skin condition caused by loss-of-function mutations in the COL7A1 gene. AIM: This study aimed to determine the genetic basis of three Chinese RDEB patients from different families and identify correlations between phenotype and genotype. METHODS: All three patients were diagnosed with RDEB based on typical phenotype...
January 2018: Annals of Clinical and Laboratory Science
Cecilia Bartholdson, Bert Molewijk, Kim Lützén, Klas Blomgren, Pernilla Pergert
BACKGROUND: In previous research on ethics case reflection (ECR) sessions about specific cases, healthcare professionals in childhood cancer care were clarifying their perspectives on the ethical issue to resolve their main concern of consolidating care. When perspectives were clarified, consequences in the team included 'increased understanding', 'group strengthening' and 'decision grounding'. Additional analysis of the data was needed on conditions that could contribute to the quality of ECR sessions...
March 2018: Nursing Ethics
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