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https://www.readbyqxmd.com/read/29156830/fbn3-gene-involved-in-pathogenesis-of-a-chinese-family-with-bardet-biedl-syndrome
#1
Yun Wang, Abir Garraoui, Liuzhi Zeng, Mingying Lai, Fen He, Huaizhou Wang, Chongyi Jiang, Yulan Chen, Lanlan Dai, Ning Fan, Huanming Yang, Jianguo Zhang, Xuyang Liu
Purpose: This study was designed to evaluate the molecular genetics of a Chinese family with Bardet-Biedl syndrome (BBS). Methods: All the family members underwent medical history evaluation, ophthalmologic and physical examinations. Whole exome sequencing was performed on two affected individuals and their parents. All variants were verified in all family members by PCR amplification and Sanger sequencing. Results: Patients in this family were diagnosed as Bardet-Biedl syndrome, with an inheritance pattern of autosomal recessive...
October 17, 2017: Oncotarget
https://www.readbyqxmd.com/read/29155210/transition-from-androgenic-to-neurosteroidal-action-of-5%C3%AE-androstane-3%C3%AE-17%C3%AE-diol-through-the-type-a-%C3%AE-aminobutyric-acid-receptor-in-prostate-cancer-progression
#2
Ding Xia, Doan V Lai, Weijuan Wu, Zachary D Webb, Qing Yang, Lichao Zhao, Zhongxin Yu, Jessica E Thorpe, Bryan C Disch, Michael A Ihnat, Muralidharan Jayaraman, Danny N Dhanasekaran, Kelly L Stratton, Michael S Cookson, Kar-Ming Fung, Hsueh-Kung Lin
Androgen ablation is the standard of care prescribed to patients with advanced or metastatic prostate cancer (PCa) to slow down disease progression. Unfortunately, a majority of PCa patients under androgen ablation progress to castration-resistant prostate cancer (CRPC). Several mechanisms including alternative intra-prostatic androgen production and androgen-independent androgen receptor (AR) activation have been proposed for CRPC progression. Aldo-keto reductase family 1 member C3 (AKR1C3), a multi-functional steroid metabolizing enzyme, is specifically expressed in the cytoplasm of PCa cells; and positive immunoreactivity of the type A γ-aminobutyric acid receptor (GABAAR), an ionotropic receptor and ligand-gated ion channel, is detected on the membrane of PCa cells...
November 15, 2017: Journal of Steroid Biochemistry and Molecular Biology
https://www.readbyqxmd.com/read/29154979/small-fiber-neuropathy-diagnosis-causes-and-treatment
#3
Damien Sène
Small fiber neuropathy, which affects the sensory A≏ and C fibers, is now a major diagnostic and therapeutic challenge. Nearly 7% of the general population have chronic neuropathic pain responsible for severe quality-of-life impairments. Awareness must therefore be raised among clinicians of the somatosensory and autonomic symptoms that can reveal small fiber neuropathy, appropriate diagnostic investigations, most common causes, and best treatment options for each patient profile. To help achieve this goal, the present review article discusses the clinical presentation of neuropathic pain and paresthesia and/or autonomic dysfunction due to involvement of nerves supplying exocrine glands and smooth muscle; normal findings from standard electrophysiological investigations; most informative diagnostic tests (epidermal nerve fiber density in a skin biopsy, laser-evoked potentials, heat- and cold-detection thresholds, electrochemical skin conductance); main causes, which consist chiefly of metabolic diseases (diabetes mellitus, glucose intolerance), dysimmunity syndromes (Sjögren's syndrome, sarcoidosis, monoclonal gammopathy), and genetic abnormalities (familial amyloidosis due to a transthyretin mutation, Fabry disease, sodium channel diseases); and the available symptomatic and etiological treatments...
November 15, 2017: Joint, Bone, Spine: Revue du Rhumatisme
https://www.readbyqxmd.com/read/29153934/family-centered-care-from-the-perspective-of-parents-of-children-cared-for-in-a-pediatric-intensive-care-unit-an-integrative-review
#4
REVIEW
Carrie Hill, Kathleen A Knafl, Sheila Judge Santacroce
PROBLEM: The Institute for Patient- and Family-Centered Care's (IPFCC) definition of family-centered care (FCC) includes the following four core concepts: respect and dignity, information sharing, participation, and collaboration. To date, research has focused on the provider experience of FCC in the PICU; little is known about how parents of children hospitalized in the pediatric intensive care unit (PICU) experience FCC. ELIGIBILITY CRITERIA: Articles were included if they were published between 2006 and 2016, included qualitative, quantitative, or mixed methods results, related to care received in a PICU, and included results that were from a parent perspective...
November 16, 2017: Journal of Pediatric Nursing
https://www.readbyqxmd.com/read/29152326/development-of-a-communication-aid-for-explaining-hypertrophic-cardiomyopathy-genetic-test-results
#5
Yana Smagarinsky, Charlotte Burns, Catherine Spinks, Christopher Semsarian, Jodie Ingles
Background: Large gene panels are now commonplace for hypertrophic cardiomyopathy (HCM), increasing the yield of uncertain genetic findings. Few resources exist which aim to facilitate communication of HCM genetic test results. We sought to develop, pilot, and refine a communication aid for probands receiving HCM genetic test results. Methods: Development was a multi-step process involving expertise of a multidisciplinary team, literature review, and empirical experience...
2017: Pilot and Feasibility Studies
https://www.readbyqxmd.com/read/29151946/gene-expression-profiling-reveals-novel-candidate-markers-of-ovarian-carcinoma-intraperitoneal-metastasis
#6
Katerina Elsnerova, Alena Bartakova, Josef Tihlarik, Jiri Bouda, Lukas Rob, Petr Skapa, Martin Hruda, Ivan Gut, Beatrice Mohelnikova-Duchonova, Pavel Soucek, Radka Vaclavikova
Epithelial ovarian cancer (EOC) has the highest mortality among gynecological carcinomas. The lack of specific markers for prognostic determination of EOC progression hinders the search for novel effective therapies. The aim of the present study was (i) to explore differences in expressions of ATP-binding cassette (ABC) and solute carrier (SLC) transporter genes, genes associated with drug metabolism and cell cycle regulation between control ovarian tissues (n = 14), primary EOCs (n = 44) and intraperitoneal metastases (n = 29); (ii) to investigate associations of gene expression levels with prognosis of patients with intraperitoneal metastases...
2017: Journal of Cancer
https://www.readbyqxmd.com/read/29151903/fusobacterium-nucleatum-in-gastroenterological-cancer-evaluation-of-measurement-methods-using-quantitative-polymerase-chain-reaction-and-a-literature-review
#7
Kensuke Yamamura, Yoshifumi Baba, Keisuke Miyake, Kenichi Nakamura, Hironobu Shigaki, Kosuke Mima, Junji Kurashige, Takatsugu Ishimoto, Masaaki Iwatsuki, Yasuo Sakamoto, Yoichi Yamashita, Naoya Yoshida, Masayuki Watanabe, Hideo Baba
The human microbiome Fusobacterium nucleatum, which primarily inhabits the oral cavity, causes periodontal disease and has also been implicated in the development of colorectal cancer. However, whether F. nucleatum is present in other gastroenterological cancer tissues remains to be elucidated. The present study evaluated whether quantitative polymerase chain reaction (qPCR) assays were able to detect F. nucleatum DNA and measure the quantity of F. nucleatum DNA in esophageal, gastric, pancreatic and liver cancer tissues...
December 2017: Oncology Letters
https://www.readbyqxmd.com/read/29150180/family-centre-bereavement-practices-in-danish-intensive-care-units-a-cross-sectional-national-survey
#8
Ingrid Egerod, Gudrun Kaldan, Maureen Coombs, Marion Mitchell
BACKGROUND: Mortality in Danish intensive care units (ICUs) continues at 27%, resulting in a large number of bereaved family members being cared for in the ICU. OBJECTIVES: To investigate the provision of bereavement care and follow-up services for bereaved families in Danish ICUs. METHODOLOGY: Self-administered computerized cross-sectional nation-wide survey of Danish ICUs. RESULTS: Nurses at 46 of 48 (96%) ICUs in Denmark responded...
November 14, 2017: Intensive & Critical Care Nursing: the Official Journal of the British Association of Critical Care Nurses
https://www.readbyqxmd.com/read/29149460/the-impact-of-a-prolonged-stay-in-the-icu-on-patients-fundamental-care-needs
#9
Claire Minton, Lesley Batten, Annette Huntington
AIM: To explore patients', families', and health professionals' experiences of a long-stay patient in an intensive care unit. BACKGROUND: The fast-paced technologically driven intensive care unit environment, designed for a short patient stay, supports the provision of complex physiologically-focused care for those with life-threatening illnesses. Long stay patients with pronounced fundamental care needs fall outside predicted patient pathways, and nurses can find caring for these patients challenging...
November 17, 2017: Journal of Clinical Nursing
https://www.readbyqxmd.com/read/29149079/sphingosine-1-phosphate-s1p-signaling-in-glioblastoma-multiforme-a-systematic-review
#10
REVIEW
Shailaja Mahajan-Thakur, Sandra Bien-Möller, Sascha Marx, Henry Schroeder, Bernhard H Rauch
The multifunctional sphingosine-1-phosphate (S1P) is a lipid signaling molecule and central regulator in the development of several cancer types. In recent years, intriguing information has become available regarding the role of S1P in the progression of Glioblastoma multiforme (GBM), the most aggressive and common brain tumor in adults. S1P modulates numerous cellular processes in GBM, such as oncogenesis, proliferation and survival, invasion, migration, metastasis and stem cell behavior. These processes are regulated via a family of five G-protein-coupled S1P receptors (S1PR1-5) and may involve mainly unknown intracellular targets...
November 17, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29147618/programmed-cell-death-ligands-expression-in-phaeochromocytomas-and-paragangliomas-relationship-with-the-hypoxic-response-immune-evasion-and-malignant-behavior
#11
David J Pinato, James R Black, Sebastian Trousil, Roberto E Dina, Pritesh Trivedi, Francesco A Mauri, Rohini Sharma
The hypoxic response underlies the pathogenesis and malignant behavior of PCC/PGL. Regulation of PD-1 receptor-ligand signaling, a therapeutically actionable driver of the anti-tumor immune response, is a hypoxic-driven trait across malignancies. We evaluated the prognostic role of PD ligands in association with biomarkers of hypoxia and angiogenesis in patients with PCC/PGL. Tissue microarrays sections including consecutive cases diagnosed between 1983-2011 were stained for PD-L1 and 2, hypoxia inducible factor 1a (Hif-1a), Carbonic Anhydrase IX (CaIX), Vascular Endothelial Growth Factor-A (VEGF-A)...
2017: Oncoimmunology
https://www.readbyqxmd.com/read/29146893/von-hippel-lindau-disease-with-multi-organ-involvement-a-case-report-and-8-year-clinical-course-with-follow-up
#12
Ali Yaghobi Joybari, Payam Azadeh
BACKGROUND Von Hippel-Lindau (VHL) disease is a rare autosomal dominant syndrome manifested by a spectrum of benign and malignant tumors.  CASE REPORT The patient presented here was a 31-year-old female with unremarkable family history who presented initially complaining of intermittent abdominal pain. Abdominal CT scan revealed an inhomogeneous solid mass (13×9×7 cm) originating from the tail of the pancreas with splenic and gastric invasion as well as several pancreatic cysts. A nucleotide scan showed left adrenal involvement...
November 17, 2017: American Journal of Case Reports
https://www.readbyqxmd.com/read/29146883/a-landscape-of-germline-mutations-in-a-cohort-of-inherited-bone-marrow-failure-patients
#13
Olivier Bluteau, Marie Sebert, Thierry Leblanc, Régis Peffault de Latour, Samuel Quentin, Elodie Lainey, Lucie Hernandez, Jean-Hugues Dalle, Flore Sicre de Fontbrune, Etienne Lengline, Raphael Itzykson, Emmanuelle Clappier, Nicolas Boissel, Naddia Vasquez, Mélanie Da Costa, Julien Masliah-Planchon, Wendy Cuccuini, Anna Raimbault, Louis De Jaegere, Lionel Adès, Pierre Fenaux, Sébastien Maury, Claudine Schmitt, Marc Muller, Carine Domenech, Nicolas Blin, Bénédicte Bruno, Isabelle Pellier, Mathilde Hunault, Stéphane Blanche, Arnaud Petit, Guy Leverger, Gérard Michel, Yves Bertrand, André Baruchel, Gérard Socié, Jean Soulier
Bone marrow failure (BMF) in children and young adults is often suspected to be inherited, but in many cases diagnosis remains uncertain. We studied a cohort of 179 patients (from 173 families) with BMF of suspected inherited origin but unresolved diagnosis after medical evaluation and Fanconi anemia exclusion. All patients had cytopenias, and 12.0% presented ≥5% bone marrow blast cells. Median age at genetic evaluation was 11 years; 20.7% of patients were aged ≤2 years and 36.9% were ≥18 years. We analyzed genomic DNA from skin fibroblasts using whole-exome sequencing, and were able to assign a causal or likely causal germline mutation in 86 patients (48...
November 16, 2017: Blood
https://www.readbyqxmd.com/read/29146706/the-clinical-and-laboratory-evaluation-of-familial-hemophagocytic-lymphohistiocytosis-and-the-importance-of-hepatic-and-spinal-cord-involvement-a-single-center-experience
#14
Burcin Beken, Selin Aytac, Gunay Balta, Baris Kuskonmaz, Duygu Uckan, Sule Unal, Mualla Cetin, Fatma Gumruk
Familial hemophagocytic lymphohistiocytosis is an autosomal recessive, life-threatening condition characterized by defective immune response. A retrospective analysis was performed on 57 patients diagnosed with familial hemophagocytic lymphohistiocytosis at Hacettepe University Pediatric Hematology Department. Mutation analysis was performed on 37 patients and of these; 11 had UNC13D, 10 had PRF1 and 3 had STX11 gene mutation. Of these patients 44% were found to have central nervous system involvement on admission and spinal cord involvement was also seen in 5 patients...
November 16, 2017: Haematologica
https://www.readbyqxmd.com/read/29146700/phenotypic-spectrum-of-children-with-nephronophthisis-and-related-ciliopathies
#15
Jens König, Birgitta Kranz, Sabine König, Karl Peter Schlingmann, Andrea Titieni, Burkhard Tönshoff, Sandra Habbig, Lars Pape, Karsten Häffner, Matthias Hansen, Anja Büscher, Martin Bald, Heiko Billing, Raphael Schild, Ulrike Walden, Tobias Hampel, Hagen Staude, Magdalena Riedl, Norbert Gretz, Martin Lablans, Carsten Bergmann, Friedhelm Hildebrandt, Heymut Omran, Martin Konrad
BACKGROUND AND OBJECTIVES: Genetic heterogeneity and phenotypic variability are major challenges in familial nephronophthisis and related ciliopathies. To date, mutations in 20 different genes (NPHP1 to -20) have been identified causing either isolated kidney disease or complex multiorgan disorders. In this study, we provide a comprehensive and detailed characterization of 152 children with a special focus on extrarenal organ involvement and the long-term development of ESRD. DESIGN, SETTING, PARTICIPANTS, & MEASUREMENTS: We established an online-based registry (www...
November 16, 2017: Clinical Journal of the American Society of Nephrology: CJASN
https://www.readbyqxmd.com/read/29146477/a-review-of-s100-protein-family-in-lung-cancer
#16
REVIEW
Ting Wang, Xiaoying Huo, Zhaoyang Chong, Hamadhaider Khan, Rui Liu, Ting Wang
S100 protein family, representing 25 relatively small calcium binding proteins, has been reported to be involved in multiple stages of tumorigenesis and progression. These proteins are considered having potential value to be adopted as novel biomarkers in the detection and accurate prediction of many kinds of tumors, including lung cancer. As the one having the highest morbidity and mortality among all cancers, lung carcinoma is still occult for detection, especially at early stage. S100 proteins take participation in the lung neoplasia through playing intracellular and/or extracellular functions, therefore getting involved in a variety of biological processes such as differentiation, proliferation, and migration...
November 13, 2017: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/29146140/patient-experiences-of-dietary-management-in-chronic-kidney-disease-a-focus-group-study
#17
Jaimon T Kelly, Katrina L Campbell, Tammy Hoffmann, Dianne P Reidlinger
OBJECTIVE: People with chronic kidney disease (CKD) contend with complex dietary recommendations. The challenge in practice is for clinicians to provide individualized support with the frequency and consistency required to sustain dietary changes. This study aimed to describe the experiences of patients with managing dietary recommendations, including their perspectives on the potential to use telehealth to support dietary management in CKD. DESIGN: Focus group study...
November 14, 2017: Journal of Renal Nutrition
https://www.readbyqxmd.com/read/29144107/safe-return-to-driving-following-severe-acquired-brain-injury-role-of-a-short-neuropsychological-assessment
#18
Donatella Saviola, Antonio DE Tanti, Jessica Conforti, Lucio Posteraro, Alessia Manfredini, Chiara Bagattini, Benedetta Basagni
BACKGROUND: Driving is a complex ability requiring a broad range of motor, cognitive- behavioural and visual skills that may be impaired after severe Acquired Brain Injury (sABI). Resumption of driving is perceived as a major need by patients, being closely linked to personal autonomy, work and social activities. AIM: The objective of this study was to identify a short battery of neuropsychological tests with predictive value with regard to safe return to driving after sABI...
November 16, 2017: European Journal of Physical and Rehabilitation Medicine
https://www.readbyqxmd.com/read/29142784/the-value-of-implementing-multidisciplinary-perinatal-care-conference-in-the-private-practice-setting
#19
Robert C Johnston, Sina Haeri, Richard T Hale, William Lindsley, Annette McCormick, Eric Su
Objective  The objective of this study was to estimate the impact of multidisciplinary (Multi-D) perinatal care conference (PCC) implementation in the private practice setting. Methods  After the initial 12-month period following implementation of the monthly PCC by private maternal-fetal medicine and neonatology practitioners, conference attendees were asked to completed a modified version of the Attitudes Toward Health Care Teams Scale, involving 19 questions assessing their attitudes and opinions toward Multi-D team care on a five-point Likert's scale...
October 2017: American Journal of Perinatology Reports
https://www.readbyqxmd.com/read/29142376/intensive-care-nurses-attitude-on-palliative-and-end-of-life-care
#20
Swagata Tripathy, Pragyan K Routray, Jagdish C Mishra
Background: Intensive Care Unit (ICU) nurses have a vital role in the implementation of end of life (EOL) care. There is limited data on the attitude of ICU nurses toward EOL and palliation. Aim: This study aimed to investigate knowledge, attitude, and beliefs of intensive care nurses in eastern India toward EOL. Materials and Methods: A self-administered questionnaire was distributed to delegates in two regional critical care nurses' training programs...
October 2017: Indian Journal of Critical Care Medicine
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