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https://www.readbyqxmd.com/read/28644590/mutyh-associated-polyposis-the-irish-experience
#1
T P McVeigh, M Duff, C Carroll, R O'Shea, L Bradley, M Farrell, D J Gallagher, C Clabby, A J Green
MUTYH is involved in DNA damage repair. Bi-allelic MUTYH mutations predispose to polyposis and gastrointestinal malignancies, distinct genetically from autosomal dominant familial adenomatous polyposis coli. Two common European MUTYH mutations account for 90% of MUTYH-associated polyposis (MAP). We aimed to examine the incidence of MAP in Ireland. A retrospective cohort study was undertaken. Patients undergoing MUTYH testing from 2003-2016 were identified by searching electronic databases using terms "MUTYH" and "MYH"...
December 12, 2016: Irish Medical Journal
https://www.readbyqxmd.com/read/28644570/clinical-and-genetic-analysis-of-patients-with-cherubism
#2
R A Machado, H A R Pontes, F R Pires, H M Silveira, A Bufalino, R Carlos, F M Tuji, D B M Alves, A R Santos-Silva, M A Lopes, H M Capistrano, R D Coletta, F P Fonseca
OBJECTIVE: To describe the clinical and genetic features of patients with cherubism. MATERIAL AND METHODS: A descriptive analysis of 14 cases from 9 different families was carried out. Clinicopathological, imaging and follow-up data were retrieved from patients' medical files and correlated with the genetic profile of each patient. Genomic DNA isolated from buccal mucosa cells was subjected to direct sequencing analysis of the SH3BP2 gene. RESULTS: Females were more affected than males (8:6), and the mean age at diagnosis was 8...
June 23, 2017: Oral Diseases
https://www.readbyqxmd.com/read/28644426/the-association-between-the-serum-levels-of-matrix-metalloproteinase-9-and-colorectal-cancer
#3
Ismar Rašić, Azra Rašić, Goran Akšamija, Svjetlana Radović, Nedžad Šehović
Aim To determine the serum levels of matrix metalloproteinase 9 (MMP-9) concentration and their association with the stage and histopathologic sizes of colorectal cancer (CRC). Methods One hundred and two patients with clinically diagnosed and histologically confirmed colorectal cancer ready for surgical treatment were included in the study. In each patient, preoperative peripheral venous blood samples were taken for determination of the concentration of MMP-9 using ELISA immunoassay test. Resected tumour specimens were studied pathologically according to the criteria of the TNM classification...
August 1, 2017: Medicinski Glasnik
https://www.readbyqxmd.com/read/28643577/an-assessment-of-advance-relatives-approach-for-brain-death-organ-donation
#4
Carine Michaut, Antoine Baumann, Hélène Gregoire, Corinne Laviale, Gérard Audibert, Xavier Ducrocq
BACKGROUND: Advance announcement of forthcoming brain death has developed to enable intensivists and organ procurement organisation coordinators to more appropriately, and separately from each other, explain to relatives brain death and the subsequent post-mortem organ donation opportunity. Research aim: The aim was to assess how potentially involved healthcare professionals perceived ethical issues surrounding the strategy of advance approach. RESEARCH DESIGN: A multi-centre opinion survey using an anonymous self-administered questionnaire was conducted in the six-member hospitals of the publicly funded East of France regional organ and tissue procurement network called 'Prélor'...
January 1, 2017: Nursing Ethics
https://www.readbyqxmd.com/read/28643117/children-s-family-experiences-development-of-the-promis-%C3%A2-pediatric-family-relationships-measures
#5
Katherine B Bevans, Anne W Riley, Jeanne M Landgraf, Adam C Carle, Rachel E Teneralli, Barbara H Fiese, Lisa J Meltzer, Anna K Ettinger, Brandon D Becker, Christopher B Forrest
PURPOSE: To describe the development of pediatric family relationships measures, with versions for child self-report (8-17 years) and parent-report for children 5-17 years old. Measures were created for integration into the Patient Reported Outcomes Measurement Information System (PROMIS(®)). METHODS: Semi-structured interviews with 10 experts, 24 children, and 8 parents were conducted to elicit and clarify essential elements of family relationships. A systematic literature review was conducted to identify item concepts representative of each element...
June 22, 2017: Quality of Life Research
https://www.readbyqxmd.com/read/28643016/screening-for-lynch-syndrome-in-young-saudi-colorectal-cancer-patients-using-microsatellite-instability-testing-and-next-generation-sequencing
#6
Masood Alqahtani, Caitlin Edwards, Natasha Buzzacott, Karen Carpenter, Khalid Alsaleh, Abdulmalik Alsheikh, Waleed Abozeed, Miral Mashhour, Afnan Almousa, Yousef Housawi, Shareefa Al Hawwaj, Barry Iacopetta
Individuals with Lynch syndrome (LS) have germline variants in DNA mismatch repair (MMR) genes that confer a greatly increased risk of colorectal cancer (CRC), often at a young age. Identification of these individuals has been shown to increase their survival through improved surveillance. We previously identified 33 high risk cases for LS in the Saudi population by screening for microsatellite instability (MSI) in the tumor DNA of 284 young CRC patients. The aim of the present study was to identify MMR gene variants in this cohort of patients...
June 22, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28642838/adaptive-pathways-and-emerging-strategies-overcoming-treatment-resistance-in-castration-resistant-prostate-cancer
#7
Cameron M Armstrong, Allen C Gao
The therapies available for prostate cancer patients whom progress from hormone-sensitive to castration resistant prostate cancer include both systemic drugs, including docetaxel and cabazitaxel, and drugs that inhibit androgen signaling such as enzalutamide and abiraterone. Unfortunately, it is estimated that up to 30% of patients have primary resistance to these treatments and over time even those who initially respond to therapy will eventually develop resistance and their disease will continue to progress regardless of the presence of the drug...
October 2016: Asian Journal of Urology
https://www.readbyqxmd.com/read/28642160/a-novel-missense-variant-gln220arg-of-gnb4-encoding-guanine-nucleotide-binding-protein-subunit-beta-4-in-a-japanese-family-with-autosomal-dominant-motor-and-sensory-neuropathy
#8
Shiroh Miura, Takuya Morikawa, Ryuta Fujioka, Kazuhito Noda, Kengo Kosaka, Takayuki Taniwaki, Hiroki Shibata
Dominant intermediate Charcot-Marie-Tooth disease F (CMTDIF) is an autosomal dominant hereditary form of Charcot-Marie-Tooth disease (CMT) caused by variations in the guanine nucleotide-binding protein, subunit beta-4 gene (GNB4). We examined two Japanese familial cases with CMT. Case 1 was a 49-year-old male whose chief complaint was slowly progressive gait disturbance and limb dysesthesia that appeared at the age of 47. On neurological examination, he showed hyporeflexia or areflexia, distal limb muscle weakness, and distal sensory impairment with lower dominancy...
June 19, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28640249/mybl2-b-myb-a-central-regulator-of-cell-proliferation-cell-survival-and-differentiation-involved-in-tumorigenesis
#9
REVIEW
Julian Musa, Marie-Ming Aynaud, Olivier Mirabeau, Olivier Delattre, Thomas Gp Grünewald
Limitless cell proliferation, evasion from apoptosis, dedifferentiation, metastatic spread and therapy resistance: all these properties of a cancer cell contribute to its malignant phenotype and affect patient outcome. MYBL2 (alias B-Myb) is a transcription factor of the MYB transcription factor family and a physiological regulator of cell cycle progression, cell survival and cell differentiation. When deregulated in cancer cells, MYBL2 mediates the deregulation of these properties. In fact, MYBL2 is overexpressed and associated with poor patient outcome in numerous cancer entities...
June 22, 2017: Cell Death & Disease
https://www.readbyqxmd.com/read/28639096/-we-re-completely-back-to-normal-but-i-d-say-it-s-a-new-normal-a-qualitative-exploration-of-adaptive-functioning-in-rural-families-following-a-parental-cancer-diagnosis
#10
E D Garrard, K M Fennell, C Wilson
PURPOSE: The purpose of this study was to explore rural families' functioning following a parental cancer diagnosis. METHOD: Ten families in which a parent of dependent children had received a cancer diagnosis were purposively sampled using two questionnaires based upon the Resiliency Model of Family Adjustment and Adaptation (RMFAA): the Family Crisis Oriented Personal Evaluation Scales (F-COPES) and the Family Attachment Changeability Index 8 (FACI8). The total participant number was 34, which comprised the involvement of 17 parents and 17 children...
June 21, 2017: Supportive Care in Cancer: Official Journal of the Multinational Association of Supportive Care in Cancer
https://www.readbyqxmd.com/read/28638418/the-expression-of-stat3-and-stat5a-genes-in-severe-refractory-asthma
#11
Kayvan Saeedfar, Mehrdad Behmanesh, Esmaeil Mortaz, Mohammad Reza Masjedi
BACKGROUND: Despite being a high burden disorder, the pathogenesis of severe refractory asthma (SRA) is poorly understood. There are some evidences for the involvement of members of the signal transducer and activator of transcription (STAT) family, including STAT3 and STAT5a. Our study aimed to evaluate the gene expression of STAT3 and STAT5a in asthma and SRA to establish if there is an association. MATERIALS AND METHODS: Using quantitative real-time polymerase chain reactions (qRT-PCR), the transcript levels of STAT3 and STAT5a were evaluated in peripheral blood mononuclear lymphocytes (PBML) isolated from 13 patients with SRA, 14 with mild asthma, and 30 healthy volunteers...
2017: Tanaffos
https://www.readbyqxmd.com/read/28637739/intrathecal-baclofen-therapy-in-paediatrics-a-study-protocol-for-an-australian-multicentre-10-year-prospective-audit
#12
Kirsty Stewart, Gavin Hutana, Megan Kentish
INTRODUCTION: Increasing clinical use of Intrathecal baclofen (ITB) in Australian tertiary paediatric hospitals, along with the need for standardised assessment and reporting of adverse events, saw the formation of the Australian Paediatric ITB Research Group (APIRG). APIRG developed a National ITB Audit tool designed to capture clinical outcomes and adverse events data for all Australian children and adolescents receiving ITB therapy. METHODS AND ANALYSIS: The Australian ITB Audit is a 10 year, longitudinal, prospective, clinical audit collecting all adverse events and assessment data across body functions and structure, participation and activity level domains of the ICF...
June 21, 2017: BMJ Open
https://www.readbyqxmd.com/read/28637637/alternating-hemiplegia-of-childhood-and-a-pathogenic-variant-of-atp1a3-a-case-report-and-pathophysiological-considerations
#13
Elena Pavlidis, Peter Uldall, Camilla Gøbel Madsen, Marina Nikanorova, Martin Fabricius, Hans Høgenhaven, Francesco Pisani, Rikke S Møller, Elena Gardella, Guido Rubboli
We describe a case of a child suffering from alternating hemiplegia with a heterozygous p. E815K pathogenic variant of ATP1A3. The patient started to present abnormal eye movements in the first days of life, followed by the appearance at 2 months of dystonic episodes, and later on, by recurrent episodes of alternating hemiplegia more often on the right side. A severe epilepsy started at the age of 2 years with episodes of status epilepticus since the onset which frequently recurred, requiring admission to the intensive care unit...
June 19, 2017: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/28637623/ddx41-related-myeloid-neoplasia
#14
REVIEW
Jaroslaw P Maciejewski, Richard A Padgett, Anna L Brown, Carsten Müller-Tidow
While early presentation of familial leukemia syndromes is typical, long disease anticipation may mask cases of familial traits in seemingly spontaneous disease. Germline mutations in DDX41 gene have been discovered in several leukemia families, as well as in mostly adult patients with seemingly spontaneous disease but having strong family histories of myeloid neoplasia. As with other familial genes, DDX41 mutation carriers can develop neoplasia through acquisition of another somatic mutation, thereby affecting both DDX41 alleles...
April 2017: Seminars in Hematology
https://www.readbyqxmd.com/read/28637586/soluble-lr11-associates-with-aortic-root-calcification-in-asymptomatic-treated-male-patients-with-familial-hypercholesterolemia
#15
Ranitha Vongpromek, Sven Bos, Gert-Jan R Ten Kate, Hideaki Bujo, Meizi Jiang, Koen Nieman, Wolfgang Schneider, Jeanine E Roeters van Lennep, Adrie J M Verhoeven, Eric J G Sijbrands, Monique T Mulder
BACKGROUND AND AIMS: Despite statin treatment, a high prevalence of severe vascular calcification is found in patients with familial hypercholesterolemia (FH). We assessed the relation between the circulating soluble form of low-density lipoprotein receptor relative with 11 ligand-binding repeats (sLR11), a risk factor for cardiovascular disease, and vascular calcification in asymptomatic statin-treated heterozygous FH patients. METHODS: In 123 asymptomatic heterozygous FH patients (age 40-69 years), aortic root (ARC), aortic valve (AVC) and coronary artery calcification (CAC) were determined with CT-based calcium scoring expressed in Agatston units...
June 9, 2017: Atherosclerosis
https://www.readbyqxmd.com/read/28637482/microrna-200c-and-microrna-141-are-regulated-by-a-foxp3-kat2b-axis-and-associated-with-tumor-metastasis-in-breast-cancer
#16
Guangxin Zhang, Wei Zhang, Bingjin Li, Erica Stringer-Reasor, Chengjing Chu, Liyan Sun, Sejong Bae, Dongquan Chen, Shi Wei, Kenneth Jiao, Wei-Hsiung Yang, Ranji Cui, Runhua Liu, Lizhong Wang
BACKGROUND: Members of the microRNA (miR)-200 family, which are involved in tumor metastasis, have potential as cancer biomarkers, but their regulatory mechanisms remain elusive. METHODS: We investigated FOXP3-inducible breast cancer cells, Foxp3 heterozygous Scurfy mutant (Foxp3 (sf/+) ) female mice, and patients with breast cancer for characterization of the formation and regulation of the miR-200 family in breast cancer cells and circulation. Participants (259), including patients with breast cancer or benign breast tumors, members of breast cancer families, and healthy controls, were assessed for tumor and circulating levels of the miR-200 family...
June 21, 2017: Breast Cancer Research: BCR
https://www.readbyqxmd.com/read/28637449/task-shifting-interpersonal-counseling-for-depression-a-pragmatic-randomized-controlled-trial-in-primary-care
#17
Camila T Matsuzaka, Milton Wainberg, Andrea Norcini Pala, Elis V Hoffmann, Bruno M Coimbra, Rosaly F Braga, Annika C Sweetland, Marcelo F Mello
BACKGROUND: Task shifting approaches (rational redistribution of tasks among health workforce teams) to train lay professionals to assist with integrating mental health treatment in primary care has been recommended to close the mental health treatment gap for depression in low- and middle-income countries. This study aims to examine the a new model for depression care in a low-resource environment compared to enhanced treatment at usual (E-TAU). METHODS: We trained non-specialist community health workers (local lay employees of the public health system) to provide Interpersonal Counseling (IPC) to treat depressive symptoms in the Brazilian, São Paulo city, family health strategy (FHS)...
June 21, 2017: BMC Psychiatry
https://www.readbyqxmd.com/read/28637149/personal-meaning-in-relation-to-daily-functioning-of-a-patient-in-physical-therapy-practice-narratives-of-a-patient-a-family-member-and-physical-therapist
#18
Ellen Oosting, Jaap Dronkers, Thomas Hoogeboom, Nico van Meeteren, Willem Marie Speelman
PURPOSE: To get insight into personal meaning of a person involved in a physical therapy intervention. METHODS: Mrs. A, a 76-year-old woman is referred to a physical therapist (PT) for assessment of functioning and training before total hip arthroplasty (THA). The patient, her daughter, and PT were asked to write a story about their daily life. Stories were analyzed according to the narrative scheme based on a method to find meaning in daily life, which consists of four phases: 1...
February 24, 2017: Disability and Rehabilitation
https://www.readbyqxmd.com/read/28637026/clinic-characteristics-of-psoriasis-in-china-a-nationwide-survey-in-over-12000-patients
#19
Kun Chen, Gang Wang, Hongzhong Jin, Jinhua Xu, Xuejun Zhu, Min Zheng, Heng Gu
Psoriasis is a worldwide chronic inflammatory disease, involving both skin and joints. In order to characterize psoriasis in Han Chinese population, we conducted this nationwide prospective and hospital based survey, in which 56 hospitals with departments of dermatology participated, located in 33 cities across China. A total of 12,031 outpatients with psoriasis were registered during 2009 to 2010, which the data was collected by standard questionnaires. The main data acquisition included demographics, family history, disease status and other comorbidities...
June 12, 2017: Oncotarget
https://www.readbyqxmd.com/read/28636759/rosacea-and-its-association-with-enteral-microbiota-in-korean-females
#20
Jae-Hui Nam, Yeojun Yun, Han-Saem Kim, Han-Na Kim, Ho Joo Jung, Yoosoo Chang, Seungho Ryu, Hocheol Shin, Hyung-Lae Kim, Won-Serk Kim
BACKGROUND: Rosacea is a chronic inflammatory dermatosis affecting the face and eyes. An association between systemic comorbidities and rosacea has been reported, but the link to enteral microbiota is uncertain. OBJECTIVES: We aimed to investigate the link between rosacea and enteral microbiota. METHODS: A cross-sectional study was performed in a sample of Korean women who participated in a health checkup program at the Kangbuk Samsung Hospital Health Screening Center between 23 June 2014 and 5 September 2014...
June 21, 2017: Experimental Dermatology
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