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https://www.readbyqxmd.com/read/28938739/sequence-variants-of-khdrbs1-as-high-penetrance-susceptibility-risks-for-primary-ovarian-insufficiency-by-mis-regulating-mrna-alternative-splicing
#1
Binbin Wang, Lin Li, Ying Zhu, Wei Zhang, Xi Wang, Beili Chen, Tengyan Li, Hong Pan, Jing Wang, Kehkooi Kee, Yunxia Cao
STUDY QUESTION: Does a novel heterozygous KHDRBS1 variant, identified using whole-exome sequencing (WES) in two patients with primary ovarian insufficiency (POI) in a pedigree, cause defects in mRNA alternative splicing? SUMMARY ANSWER: The heterozygous variant of KHDRBS1 was confirmed to cause defects in alternative splicing of many genes involved in DNA replication and repair. WHAT IS KNOWN ALREADY: Studies in mice revealed that Khdrbs1 deficient females are subfertile, which manifests as delayed sexual maturity and significantly reduced numbers of secondary and pre-antral follicles...
October 1, 2017: Human Reproduction
https://www.readbyqxmd.com/read/28938653/overexpression-of-emt-inducing-transcription-factors-as-a-potential-poor-prognostic-factor-for-hepatocellular-carcinoma-in-asian-populations-a-meta-analysis
#2
Tao Wan, Tianwei Zhang, Xiaoying Si, Yanming Zhou
BACKGROUND AND OBJECTIVES: The clinical relevance of epithelial to mesenchymal transition (EMT) in hepatocellular carcinoma (HCC) progression has been highlighted during the last decade. The zinc finger E-box binding homeobox (ZEB) family, the zinc-finger transcriptional repressor (SNAI) family, and the basic helix-loop-helix transcription factor (Twist) family, known as the prominent EMT-inducing transcription factors (EMT-TFs), played a crucial role in the process of EMT. Here, this meta-analysis aimed to evaluate the prognostic value of EMT-TFs high expression in patients with HCC after hepatectomy...
August 29, 2017: Oncotarget
https://www.readbyqxmd.com/read/28938458/corticotroph-pituitary-carcinoma-in-a-patient-with-lynch-syndrome-ls-and-pituitary-tumors-in-a-nationwide-ls-cohort
#3
Daniel Bengtsson, Patrick Joost, Christos Aravidis, Marie Askmalm Stenmark, Ann-Sofie Backman, Beatrice Melin, Jenny von Salomé, Theofanis Zagoras, Samuel Gebre-Medhin, Pia Burman
Context: Lynch syndrome is a cancer predisposing syndrome caused by germline mutations in genes involved in DNA mismatch repair (MMR). Patients are at high risk for several types of cancer, but pituitary tumors have not previously been reported. Case: A 51-year old man with LS (MSH2 mutation) and a history of colon carcinoma presented with severe Cushing's disease and a locally aggressive pituitary tumor. The tumor harbored a mutation consistent with the patient's germline mutation, and displayed defect MMR function...
August 18, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28938289/discussing-benefits-and-risks-of-tracheostomy-what-physicians-actually-say
#4
Lauren M Hebert, Anne C Watson, Vanessa Madrigal, Tessie W October
OBJECTIVES: When contemplating tracheostomy placement in a pediatric patient, a family-physician conference is often the setting for the disclosure of risks and benefits of the procedure. Our objective was to compare benefits and risks of tracheostomy presented during family-physician conferences to an expert panel's recommendations for what should be presented. DESIGN: We conducted a retrospective review of 19 transcripts of audio-recorded family-physician conferences regarding tracheostomy placement in children...
September 21, 2017: Pediatric Critical Care Medicine
https://www.readbyqxmd.com/read/28936585/understanding-intestinal-glucose-transporter-expression-in-obese-compared-to-non-obese-subjects
#5
Rebecca A Deal, Yueming Tang, Reid Fletcher, Alfonso Torquati, Philip Omotosho
INTRODUCTION: The impact of Roux-en-Y gastric bypass (RYGB) on weight loss and co-morbid disease resolution is well established. However, the mechanisms underlying the procedure remain incompletely understood. Intestinal remodeling involving glucose transporters (GLUTs) may play a crucial role. Rat studies have demonstrated morphological adaptation of GLUTs within adipose and intestinal cells in association with the reprogramming of glucose metabolism. There is a limited understanding of the variations in expression amongst GLUT family receptors in the human intestine...
September 21, 2017: Surgical Endoscopy
https://www.readbyqxmd.com/read/28935129/environmental-design-for-end-of-life-care-an-integrative-review-on-improving-quality-of-life-and-managing-symptoms-for-patients-in-institutional-settings
#6
REVIEW
Rana Sagha Zadeh, Paul Eshelman, Judith Setla, Laura Kennedy, Emily Hon, Aleksa Basara
CONTEXT: The environment in which end-of-life care is delivered can support or detract from the physical, psychological, social, and spiritual needs of patients, their families, and their caretakers. OBJECTIVES: This review aims to organize and analyze the existing evidence related to environmental design factors that improve the quality of life and total well-being of people involved in end-of-life care and to clarify directions for future research. METHOD: This integrated literature review synthesized and summarized research evidence from the fields of medicine, environmental psychology, nursing, palliative care, architecture, interior design, and evidence-based design...
September 18, 2017: Journal of Pain and Symptom Management
https://www.readbyqxmd.com/read/28933586/parents-in-adult-psychiatric-care-and-their-children-a-call-for-more-interagency-collaboration-with-social-services-and-child-and-adolescent-psychiatry
#7
Maria Afzelius, Margareta Östman, Maria Råstam, Gisela Priebe
BACKGROUND: A parental mental illness affects all family members and should warrant a need for support. AIM: To investigate the extent to which psychiatric patients with underage children are the recipients of child-focused interventions and involved in interagency collaboration. METHODS: Data were retrieved from a psychiatric services medical record database consisting of data regarding 29,972 individuals in southern Sweden and indicating the patients' main diagnoses, comorbidity, children below the age of 18, and child-focused interventions...
September 21, 2017: Nordic Journal of Psychiatry
https://www.readbyqxmd.com/read/28932371/estimating-postoperative-survival-rate-of-gastric-cancer-patients-and-its-effective-factors-in-babol-northern-iran-2006-2011
#8
Seyed-Reza Modarres, Abdolrahim Gholizadeh-Pasha, Soheil Khatibi, Sepideh Siadati
BACKGROUND: The importance of gastric cancer, considering its progressive course and high mortality is one of the reasons we pay attention to patients' survival and the significance of this study was to estimate survival and determine the effective factors on patients with gastric cancer. METHODS: In this cross-sectional study, all patients with gastric cancer who underwent surgery in Shahid Beheshti Hospital, Babol, northern Iran during 2006-2011 were enrolled...
2017: Caspian Journal of Internal Medicine
https://www.readbyqxmd.com/read/28931644/ufm1-founder-mutation-in-the-roma-population-causes-recessive-variant-of-h-abc
#9
Eline M C Hamilton, Enrico Bertini, Luba Kalaydjieva, Bharti Morar, Dana Dojčáková, Judy Liu, Adeline Vanderver, Julian Curiel, Claudia M Persoon, Daria Diodato, Lorenzo Pinelli, Nathalie L van der Meij, Barbara Plecko, Susan Blaser, Nicole I Wolf, Quinten Waisfisz, Truus E M Abbink, Marjo S van der Knaap
OBJECTIVE: To identify the gene defect in patients with hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) who are negative for TUBB4A mutations. METHODS: We performed homozygosity mapping and whole exome sequencing (WES) to detect the disease-causing variant. We used a Taqman assay for population screening. We developed a luciferase reporter construct to investigate the effect of the promoter mutation on expression. RESULTS: Sixteen patients from 14 families from different countries fulfilling the MRI criteria for H-ABC exhibited a similar, severe clinical phenotype, including lack of development and a severe epileptic encephalopathy...
September 20, 2017: Neurology
https://www.readbyqxmd.com/read/28931392/income-related-inequality-and-influencing-factors-a-study-for-the-incidence-of-catastrophic-health-expenditure-in-rural-china
#10
Hai Gu, Yun Kou, Zhiwen Yan, Yilei Ding, Jusheng Shieh, Jun Sun, Nan Cui, Qianjing Wang, Hua You
BACKGROUND: Catastrophic health expenditure (CHE) puts a heavy disease burden on patients' families, aggravating income-related inequality. In an attempt to reduce the financial risks of rural families incurring CHE, China began the New Rural Cooperative Medical System (NCMS) on a trial basis in 2003 and has raised the reimbursement rates continuously since then. Based on statistical data about rural families in sample area of Jiangsu province, this study measures the incidence of CHE, analyzes socioeconomic inequality related to CHE, and explores the influences of the NCMS on the incidence of CHE...
September 20, 2017: BMC Public Health
https://www.readbyqxmd.com/read/28929892/exploration-of-a-new-model-of-care-in-a-psychiatry-unit
#11
R Zacharias, S Belcher, M Rodway-Norman, D Guller, A Chawla, P Hough, W G Smith
The model established at Orillia Soldiers Memorial Hospital involves family physicians as the most responsible physician. They act as "admission gatekeeper" for all unattached patients who are admitted to the psychiatry in-patient unit. A PubMed, EBSCO, OVID Medline, Embase, CINAHL, and Web of Science database review of the last 10 years (2006-2016) was undertaken. A satisfaction survey was undertaken. An intensive literature review found this model to be unique. The model has proved to be extremely efficient and cost-effective...
March 2017: Healthcare Management Forum
https://www.readbyqxmd.com/read/28929029/association-of-rs1801157-single-nucleotide-polymorphism-of-cxcl12-gene-in-breast-cancer-in-pakistan-and-in-silico-expression-analysis-of-cxcl12-cxcr4-associated-biological-regulatory-network
#12
Samra Khalid, Rumeza Hanif
BACKGROUND: C-X-C chemokine ligand 12 (CXCL12) has important implications in breast cancer (BC) pathogenesis. It is selectively expressed on B and T lymphocytes and is involved in hematopoiesis, thymocyte trafficking, stem cell motility, neovascularization, and tumorigenesis. The single nucleotide polymorphism (SNP) rs1801157 of CXCL12 gene has been found to be associated with higher risk of BC. METHODS: Our study focuses on the genotypic and allelic distribution of SNP (rs1801157; G/A) in Pakistani population as well as its association with the clinico-pathological features...
2017: PeerJ
https://www.readbyqxmd.com/read/28928898/lower-education-and-household-income-contribute-to-advanced-disease-less-treatment-received-and-poorer-prognosis-in-patients-with-hepatocellular-carcinoma
#13
Yuan Shen, Hui Guo, Tao Wu, Qiang Lu, Ke-Jun Nan, Yi Lv, Xu-Feng Zhang
Understanding the ways in which socioeconomic status affects prognosis of hepatocellular carcinoma (HCC) is important for building up strategies eliminating the inequalities in cancer diagnosis and treatments among different groups, which, remains undetermined. In the present study, 1485 newly diagnosed HCC patients with complete demographic and clinical data were included. Socioeconomic data, including education, annual household income and residency was also reported by patients or families. In the present study, less educated patients were older, more female involved, poorly paid, more living in rural places, had more advanced tumor burden, received less curative and loco-regional therapies, and thus showed poorer short-term and long-term outcomes (in total or after surgical resection) than the highly educated...
2017: Journal of Cancer
https://www.readbyqxmd.com/read/28928231/the-role-of-circrnas-in-cancers
#14
Ling-Ping Zhu, Yun-Jie He, Jun-Chen Hou, Xiu Chen, Si-Ying Zhou, Su-Jin Yang, Jian Li, He-Da Zhang, Jia-Hua Hu, Shan-Liang Zhong, Jian-Hua Zhao, Jin-Hai Tang
Circular RNAs (circRNAs) are recently regarded as a naturally forming family of widespread and diverse endogenous noncoding RNAs that may regulate gene expression in mammals. At present, above 30,000 circRNAs have already been found, with their unique structures to maintain stability more easily than linear RNAs. Several previous literatures stressed on the important role of circRNAs, whose expression was relatively correlated with patients' clinical characteristics and grade, in the carcinogenesis of cancer...
September 19, 2017: Bioscience Reports
https://www.readbyqxmd.com/read/28928098/influence-of-identification-of-contacts-in-adherence-of-index-tuberculosis-cases-to-treatment-in-a-high-incidence-country
#15
Simoni Pimenta de Oliveira, Maria Dalva de Barros Carvalho, Sandra Marisa Pelloso, Katiany Rizzieri Caleffi-Ferracioli, Vera Lúcia Dias Siqueira, Regiane Bertin de Lima Scodro, Rosilene Fressatti Cardoso
BACKGROUND: Health professionals must interview tuberculosis (TB) index cases to identify and examine their contacts because human interaction favours disease transmission. Revealing their contacts implies the disclosure of their health condition to close friends and family. The aim of this study was to evaluate the influence of the identification of contacts of TB index cases in the outcome of TB treatment. METHODS: This observational, cross-sectional, epidemiological study was conducted using data provided by SINAN-Net on subjects diagnosed with TB between 2008 and 2012 in Paraná, Brazil...
September 16, 2017: International Journal of Infectious Diseases: IJID
https://www.readbyqxmd.com/read/28927462/generation-of-special-autosomal-dominant-polycystic-kidney-disease-ipscs-with-the-capability-of-functional-kidney-like-cell-differentiation
#16
Jiahui Huang, Shumin Zhou, Xin Niu, Bin Hu, Qing Li, Feng Zhang, Xue Zhang, Xiujuan Cai, Yuanlei Lou, Fen Liu, Chenming Xu, Yang Wang
BACKGROUND: Human induced pluripotent stem cells (iPSCs) have been verified as a powerful cell model for the study of pathogenesis in hereditary disease. Autosomal dominant polycystic kidney disease (ADPKD) is caused by mutations of PKD or non-PKD genes. The pathogenesis of ADPKD remains unexplored because of the lack of a true human cell model. METHODS: Six ADPKD patients and four healthy individuals were recruited as donors of somatic cells from a Chinese ADPKD family without mutations of the PKD genes but carrying SAMSN1 gene deletion...
September 19, 2017: Stem Cell Research & Therapy
https://www.readbyqxmd.com/read/28927429/the-impact-of-lipoprotein-lipase-deficiency-on-health-related-quality-of-life-a-detailed-structured-qualitative-study
#17
Sasi Neelamekam, See Kwok, Rachel Malone, Anthony S Wierzbicki, Handrean Soran
BACKGROUND: Lipoprotein lipase deficiency (LPLD) is an autosomal recessive inherited disorder caused by loss-of-function mutations in genes involved in the lipoprotein lipase pathway. It is characterised by chylomicronaemia, severe hypertriglyceridaemia and an increased risk of recurrent pancreatitis that often requires hospitalisation. This research aimed to improve our understanding of the debilitating impact that LPLD has on the daily lives of patients and their families. METHODS: The research comprised a 2-h interview with the patient and, where possible, a 1-h interview with a family member; a 1-week pre- and post-interview task (written and/or video diary); and a 30-45-min follow-up telephone interview...
September 19, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28927426/the-acid-sensing-ion-channel-asic2-promotes-invasion-and-metastasis-of-colorectal-cancer-under-acidosis-by-activating-the-calcineurin-nfat1-axis
#18
Zhi-Hang Zhou, Jin-Wen Song, Wen Li, Xue Liu, Liu Cao, Lu-Ming Wan, Ying-Xia Tan, Shou-Ping Ji, Yu-Mei Liang, Feng Gong
BACKGROUND: The tumor acidic microenvironment, a common biochemical event in solid tumors, offers evolutional advantage for tumors cells and even enhances their aggressive phenotype. However, little is known about the molecular mechanism underlying the acidic microenvironment-induced invasion and metastasis. METHODS: We examined the expression of the acid-sending ion channel (ASIC) family members after acidic exposure using RT-PCR and immunofluoresence. Gene manipulation was applied to reveal the potential of ASIC2 on invasion, proliferation, colony formation of colorectal cancer (CRC)...
September 19, 2017: Journal of Experimental & Clinical Cancer Research: CR
https://www.readbyqxmd.com/read/28927116/expression-of-family-with-sequence-similarity-172-member-a-and-nucleotide-binding-protein-1-is-associated-with-the-poor-prognosis-of-colorectal-carcinoma
#19
Wenjun Liu, Shuang Wang, Kai Qian, Jinqian Zhang, Zhi Zhang, Hao Liu
In our previous studies, a functionally unknown gene, family with sequence similarity 172, member A (FAM172A), was identified. High levels of FAM172A suppressed the cell cycle process, arresting HepG2 cells in G1/S and inhibiting cell proliferation. The present study aimed to confirm the expression levels of FAM172A and nucleotide-binding protein 1 (NUBP1) in colorectal cancer (CRC) tissues and normal colorectal tissues. The impact of FAM172A and NUBP1 on the prognosis of patients with CRC was also analyzed...
September 2017: Oncology Letters
https://www.readbyqxmd.com/read/28926972/juvenile-moyamoya-and-craniosynostosis-in-a-child-with-deletion-1p32p31-expanding-the-clinical-spectrum-of-1p32p31-deletion-syndrome-and-a-review-of-the-literature
#20
Paolo Prontera, Daniela Rogaia, Amedea Mencarelli, Valentina Ottaviani, Ester Sallicandro, Giorgio Guercini, Susanna Esposito, Anna Bersano, Giuseppe Merla, Gabriela Stangoni
Moyamoya angiopathy (MA) is a rare cerebrovascular disorder characterised by the progressive occlusion of the internal carotid artery. Its aetiology is uncertain, but a genetic background seems likely, given the high MA familial rate. To investigate the aetiology of craniosynostosis and juvenile moyamoya in a 14-year-old male patient, we performed an array-comparative genomic hybridisation revealing a de novo interstitial deletion of 8.5 Mb in chromosome region 1p32p31. The deletion involved 34 protein coding genes, including NF1A, whose haploinsufficiency is indicated as being mainly responsible for the 1p32-p31 chromosome deletion syndrome phenotype (OMIM 613735)...
September 17, 2017: International Journal of Molecular Sciences
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