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https://www.readbyqxmd.com/read/27913932/almost-2-of-spanish-breast-cancer-families-are-associated-to-germline-pathogenic-mutations-in-the-atm-gene
#1
A Tavera-Tapia, L Pérez-Cabornero, J A Macías, M I Ceballos, G Roncador, M de la Hoya, A Barroso, V Felipe-Ponce, R Serrano-Blanch, C Hinojo, M D Miramar-Gallart, M Urioste, T Caldés, S Santillan-Garzón, J Benitez, A Osorio
PURPOSE: There is still a considerable percentage of hereditary breast and ovarian cancer (HBOC) cases not explained by BRCA1 and BRCA2 genes. In this report, next-generation sequencing (NGS) techniques were applied to identify novel variants and/or genes involved in HBOC susceptibility. METHODS: Using whole exome sequencing, we identified a novel germline mutation in the moderate-risk gene ATM (c.5441delT; p.Leu1814Trpfs*14) in a family negative for mutations in BRCA1/2 (BRCAX)...
December 2, 2016: Breast Cancer Research and Treatment
https://www.readbyqxmd.com/read/27913912/genetic-counselor-practices-involving-pediatric-patients-with-fap-an-investigation-of-their-self-reported-strategies-for-genetic-testing-and-hepatoblastoma-screening
#2
Caitlin E Lawson, Thomas M Attard, Hongying Dai, Seth Septer
Familial adenomatous polyposis (FAP) is a cancer predisposition syndrome that causes early-onset polyposis and is associated with an increased risk for hepatoblastoma. There is currently a lack of consensus on when to order APC (adenomatous polyposis coli) gene testing or implement surveillance for hepatoblastoma. An online questionnaire was completed by 62 genetic counselors to capture their current practices regarding these questions. Extracolonic findings associated with FAP that were most likely to prompt APC testing in an otherwise asymptomatic 10 year-old child with a negative family history were multiple desmoid tumors, congenital hypertrophy of the retinal pigment epithelium (CHRPE), jaw osteomas, and hepatoblastoma...
December 3, 2016: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/27913262/neurosurgeons-in-japan-are-exclusively-brain-surgeons
#3
REVIEW
Shunji Asamoto
In Japan, neurosurgeons have mainly treated brain diseases, with most cases involving the spine and spinal diseases historically being treated by orthopedists. Nowadays, spinal surgery is just one of the many subspecialties in the neurosurgical field in Japan. Most patients with neurological deficits or suspected neurological diseases are taken to board-certified neurosurgeons or go to them directly in Japan, not through referrals from family doctors or specialists in other fields. Problems originating in the spine and spinal cord have been overlooked or misdiagnosed in these situations...
November 29, 2016: World Neurosurgery
https://www.readbyqxmd.com/read/27912749/whole-exome-sequencing-identifies-a-novel-missense-fbn2-mutation-co-segregating-in-a-four-generation-chinese-family-with-congenital-contractural-arachnodactyly
#4
Xingping Guo, Chunying Song, Yaping Shi, Hongxia Li, Weijing Meng, Qinzhao Yuan, Jinjie Xue, Jun Xie, Yunxia Liang, Yanan Yuan, Baofeng Yu, Huaixiu Wang, Yun Chen, Lixin Qi, Xinmin Li
BACKGROUND: Congenital contractural arachnodactyly (CCA) is an autosomal dominant rare genetic disease, estimated to be less than 1 in 10,000 worldwide. People with this condition often have permanently bent joints (contractures), like bent fingers and toes (camptodactyly). CASE PRESENTATION: In this study, we investigated the genetic aetiology of CCA in a four-generation Chinese family. The blood samples were collected from 22 living members of the family in the Yangquan County, Shanxi Province, China...
December 3, 2016: BMC Medical Genetics
https://www.readbyqxmd.com/read/27911293/care-plan-improvement-in-nursing-homes-an-integrative-review
#5
Elena Mariani, Rabih Chattat, Myrra Vernooij-Dassen, Raymond Koopmans, Yvonne Engels
BACKGROUND: Care planning nowadays is a key activity in the provision of services to nursing home residents. A care plan describes the residents' needs and the actions to address them, providing both individualized and standardized interventions and should be updated as changes in the residents' conditions occur. OBJECTIVE: The aim of this review was to identify the core elements of the implementation of changes in nursing homes' care plans, by providing an overview of the type of stakeholders involved, describing the implementation strategies used, and exploring how care plans changed...
November 26, 2016: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/27910254/identification-and-analysis-of-factors-contributing-to-the-reduction-in-seclusion-and-restraint-for-a-population-with-intellectual-disability
#6
Caroline Larue, Marie-Hélène Goulet, Marie-Josée Prevost, Alexandre Dumais, Jacques Bellavance
BACKGROUND: A cohort of 11 patients with an intellectual disability and a psychiatric diagnosis present severe behavioural disorders in psychiatric hospital of Quebec in 2009. Control-measure use for this clientele has now been reduced. How do management personnel, families and care teams explain the changes? What clinical interventions did management and care providers implement that contributed to the reduction? METHOD: A retrospective case study was conducted...
December 2, 2016: Journal of Applied Research in Intellectual Disabilities: JARID
https://www.readbyqxmd.com/read/27910173/facilitators-and-barriers-to-person-centred-care-in-child-and-young-people-mental-health-services-a-systematic-review
#7
Dawid Gondek, Julian Edbrooke-Childs, Tjasa Velikonja, Louise Chapman, Felicity Saunders, Daniel Hayes, Miranda Wolpert
: Implementation of person-centred care has been widely advocated across various health settings and patient populations, including recent policy for child and family services. Nonetheless, evidence suggests that service users are rarely involved in decision-making, whilst their preferences and goals may be often unheard. The aim of the present research was to systematically review factors influencing person-centred care in mental health services for children, young people and families examining perspectives from professionals, service users and carers...
December 2, 2016: Clinical Psychology & Psychotherapy
https://www.readbyqxmd.com/read/27908942/the-need-for-an-effective-process-to-resolve-conflicts-over-medical-futility-a-case-study-and-analysis
#8
Jocelyn A Olmstead, Michael D Dahnke
The issue of medical futility requires a well-defined process in which both sides of the dispute can be heard and a resolution reached in a fair and ethical manner. Procedural approaches to medical futility cases provide all parties involved with a process-driven framework for resolving these disputes. Medical paternalism or the belief in the absolute rightness of the medical model will not serve to resolve these disputes. Although medical futility is first determined by medicine, in order for the determination to meet legal criteria, it must be subject to review...
December 2016: Critical Care Nurse
https://www.readbyqxmd.com/read/27908349/truncating-flnc-mutations-are-associated-with-high-risk-dilated-and-arrhythmogenic-cardiomyopathies
#9
Martín F Ortiz-Genga, Sofía Cuenca, Matteo Dal Ferro, Esther Zorio, Ricardo Salgado-Aranda, Vicente Climent, Laura Padrón-Barthe, Iria Duro-Aguado, Juan Jiménez-Jáimez, Víctor M Hidalgo-Olivares, Enrique García-Campo, Chiara Lanzillo, M Paz Suárez-Mier, Hagith Yonath, Sonia Marcos-Alonso, Juan P Ochoa, José L Santomé, Diego García-Giustiniani, Jorge L Rodríguez-Garrido, Fernando Domínguez, Marco Merlo, Julián Palomino, María L Peña, Juan P Trujillo, Alicia Martín-Vila, Davide Stolfo, Pilar Molina, Enrique Lara-Pezzi, Francisco E Calvo-Iglesias, Eyal Nof, Leonardo Calò, Roberto Barriales-Villa, Juan R Gimeno-Blanes, Michael Arad, Pablo García-Pavía, Lorenzo Monserrat
BACKGROUND: Filamin C (encoded by the FLNC gene) is essential for sarcomere attachment to the plasmatic membrane. FLNC mutations have been associated with myofibrillar myopathies, and cardiac involvement has been reported in some carriers. Accordingly, since 2012, the authors have included FLNC in the genetic screening of patients with inherited cardiomyopathies and sudden death. OBJECTIVES: The aim of this study was to demonstrate the association between truncating mutations in FLNC and the development of high-risk dilated and arrhythmogenic cardiomyopathies...
December 6, 2016: Journal of the American College of Cardiology
https://www.readbyqxmd.com/read/27906552/social-work-involvement-in-advance-care-planning-findings-from-a-large-survey-of-social-workers-in-hospice-and-palliative-care-settings
#10
Gary L Stein, John G Cagle, Grace H Christ
BACKGROUND: Few data are available describing the involvement and activities of social workers in advance care planning (ACP). OBJECTIVE: We sought to provide data about (1) social worker involvement and leadership in ACP conversations with patients and families; and (2) the extent of functions and activities when these discussions occur. METHODS: We conducted a large web-based survey of social workers employed in hospice, palliative care, and related settings to explore their role, participation, and self-rated competency in facilitating ACP discussions...
December 1, 2016: Journal of Palliative Medicine
https://www.readbyqxmd.com/read/27906182/bcl-3-regulates-tgf%C3%AE-signaling-by-stabilizing-smad3-during-breast-cancer-pulmonary-metastasis
#11
Xi Chen, Xinwei Cao, Xiaohua Sun, Rong Lei, Pengfei Chen, Yongxu Zhao, Yuhang Jiang, Jie Yin, Ran Chen, Deji Ye, Qi Wang, Zhanjie Liu, Sanhong Liu, Chunyan Cheng, Jie Mao, Yingyong Hou, Mingliang Wang, Ulrich Siebenlist, Y Eugene Chin, Ying Wang, Liu Cao, Guohong Hu, Xiaoren Zhang
Transforming growth factor beta (TGFβ) signaling in breast cancer is selectively associated with pulmonary metastasis. However, the underlying mechanisms remain unclear. Here we show that Bcl-3, a member of the IκB family, serves as a critical regulator in TGFβ signaling to modulate breast cancer pulmonary metastasis. Bcl-3 expression was significantly associated with metastasis-free survival in breast cancer patients. Bcl-3 deletion inhibited the migration and invasion of breast cancer cells in vitro, as well as breast cancer lung metastasis in vivo...
December 1, 2016: Cell Death & Disease
https://www.readbyqxmd.com/read/27905264/biotin-thiamine-responsive-basal-ganglia-disease-catastrophic-consequences-of-delay-in-diagnosis-and-treatment
#12
Hussein Algahtani, Saeed Ghamdi, Bader Shirah, Bader Alharbi, Raghad Algahtani, Abdulrahman Bazaid
BACKGROUND: Biotin-thiamine-responsive basal ganglia disease (BTBGD) is an autosomal recessive neurometabolic disorder caused by mutations in the SLC19A3 gene. The disease is characterized by subacute encephalopathy with confusion, dysphagia, dysarthria, and seizures. METHODS: We diagnosed a family affected by BTBGD and studied them including prognosis of cases when diagnosed and treated early in the disease process. We also review the literature comprehensively and summarize all published data about this disorder...
December 1, 2016: Neurological Research
https://www.readbyqxmd.com/read/27903303/associated-factors-of-self-reported-psychopathology-and-health-related-quality-of-life-among-men-who-have-sex-with-men-msm-with-hiv-aids-in-dalian-china-a-pilot-study
#13
Tesfaldet Habtemariam Hidru, Feng Wang, Sainyugu Lolokote, Yong Jia, Min Chen, Wei Tong, Xiao-Feng Li
BACKGROUND: Despite the availability of Anti-Retroviral Therapy (ART), the health-related quality of life (HRQoL) among HIV-positive men who have sex with men (HIVMSM) in China remains poor. This study aimed to explore the relationship between self-reported psychopathology and HRQoL among HIVMSM in Dalian, China. METHODS: A cross-sectional study was conducted in 112 HIVMSM. Symptom check list 90 (SCL 90): a measure of psychopathology and World Health Organization quality of life in HIV infection (WHOQOL-HIV-Bref): a measure of HRQoL were used...
December 1, 2016: Infectious Diseases of Poverty
https://www.readbyqxmd.com/read/27902989/plasma-levels-of-leptin-and-adiponectin-in-fragile-x-syndrome
#14
Małgorzata Zofia Lisik, Ewa Gutmajster, Aleksander L Sieroń
: Fragile X syndrome (FXS) is the most common form of familial mental retardation and one of the leading known causes of autism. The mutation responsible for FXS is a large expansion of the CGG repeats in the promoter region of the FMR1 gene, resulting in the transcriptional silencing of the gene. Leptin may be considered a cytokine-like hormone with pleiotropic actions since it may be involved in the regulation of neuroendocrine functions and the immune system response, in addition to playing a role in development...
December 1, 2016: Neuroimmunomodulation
https://www.readbyqxmd.com/read/27902947/what-factors-affect-implementation-of-early-rehabilitation-into-intensive-care-unit-practice-a-qualitative-study-with-clinicians
#15
Selina M Parry, Louisa Remedios, Linda Denehy, Laura D Knight, Lisa Beach, Thomas C Rollinson, Sue Berney, Zudin A Puthucheary, Peter Morris, Catherine L Granger
PURPOSE: To identify the barriers and enablers that influence clinicians' implementation of early rehabilitation in critical care. MATERIALS AND METHODS: Qualitative study involving 26 multidisciplinary participants who were recruited using purposive sampling. Four focus groups were conducted using semistructured questions to explore attitudes, beliefs, and experiences. Data were transcribed verbatim and thematic analysis was performed. RESULTS: Six themes emerged, as follows: (1) the clinicians' expectations and knowledge (including rationale for rehabilitation, perceived benefits, and experience), (2) the evidence for and application of rehabilitation (including beliefs regarding when to intervene), (3) patient factors (including prognosis, sedation, delirium, cooperation, motivation, goals, and family), (4) safety considerations (including physiological stability and presence of devices or lines), (5) environmental influences (staffing, resources, equipment, time, and competing priorities), and (6) culture and teamwork...
November 12, 2016: Journal of Critical Care
https://www.readbyqxmd.com/read/27902785/apoptosis-related-gene-expression-profiling-in-hematopoietic-cell-fractions-of-mds-patients
#16
Saskia Mc Langemeijer, Niccolo Mariani, Ruth Knops, Christian Gilissen, Rob Woestenenk, Theo de Witte, Gerwin Huls, Bert A van der Reijden, Joop H Jansen
Although the vast majority of patients with a myelodysplastic syndrome (MDS) suffer from cytopenias, the bone marrow is usually normocellular or hypercellular. Apoptosis of hematopoietic cells in the bone marrow has been implicated in this phenomenon. However, in MDS it remains only partially elucidated which genes are involved in this process and which hematopoietic cells are mainly affected. We employed sensitive real-time PCR technology to study 93 apoptosis-related genes and gene families in sorted immature CD34+ and the differentiating erythroid (CD71+) and monomyeloid (CD13/33+) bone marrow cells...
2016: PloS One
https://www.readbyqxmd.com/read/27902619/association-between-plasma-adamts-7-levels-and-severity-of-disease-in-patients-with-stable-obstructive-coronary-artery-disease
#17
Jie Yu, Boda Zhou, Haiyi Yu, Jiangli Han, Ming Cui, Fuchun Zhang, Guisong Wang, Lijun Guo, Wei Gao
The metalloproteinase family of a disintegrin and metalloproteinase with thrombospondin motifs-7 (ADAMTS-7) was reported to be a novel locus associated with human coronary artery disease. This study aimed to investigate plasma ADAMTS-7 levels in stable obstructive CAD patients and elucidate the relationship between plasma ADAMTS-7 levels and the severity of CAD assessed by the Syntax score.This was a single center cross-sectional study performed in 182 CAD patients. ELISA was used to measure plasma ADAMTS-7 levels...
November 2016: Medicine (Baltimore)
https://www.readbyqxmd.com/read/27902528/increased-brain-lactate-during-depressive-episodes-and-reversal-effects-by-lithium-monotherapy-in-drug-naive-bipolar-disorder-a-3-t-1h-mrs-study
#18
Rodrigo Machado-Vieira, Marcus V Zanetti, Maria C Otaduy, Rafael T De Sousa, Marcio G Soeiro-de-Souza, Alana C Costa, Andre F Carvalho, Claudia C Leite, Geraldo F Busatto, Carlos A Zarate, Wagner F Gattaz
OBJECTIVE: Mitochondrial dysfunction and energy metabolism impairment are key components in the pathophysiology of bipolar disorder (BD) and may involve a shift from aerobic to anaerobic metabolism. Measurement of brain lactate in vivo using proton magnetic resonance spectroscopy (H-MRS) represents an important tool to evaluate mitochondrial and metabolic dysfunction during mood episodes, as well as to monitor treatment response. To date, very few studies have quantified brain lactate in BD...
November 28, 2016: Journal of Clinical Psychopharmacology
https://www.readbyqxmd.com/read/27901477/the-neurotrophin-neuritin1-cpg15-is-involved-in-melanoma-migration-attachment-independent-growth-and-vascular-mimicry
#19
Anja Katrin Bosserhoff, Nadja Schneider, Lisa Ellmann, Lucie Heinzerling, Silke Kuphal
The neurotrophin Neuritin1 (NRN1; cpg15) belongs to the candidate plasticity gene (CPG) family and is expressed in postmitotic-differentiating neurons of the developmental nervous system and neuronal structures associated with plasticity in the brain of human adult.Our newest findings document that NRN1 deregulation could contribute also to disease development and have impact on malignant melanoma. Our analyses displayed the over-expression of NRN1 in melanoma in vitro and in vivo, shown by immunohistochemistry and qRT-PCR on microdissected melanoma tissue; furthermore, soluble NRN1 was detectable in tissue culture supernatant and serum of melanoma patients...
November 25, 2016: Oncotarget
https://www.readbyqxmd.com/read/27900514/process-evaluation-of-a-community-garden-at-an-urban-outpatient-clinic
#20
Brandy-Joe Milliron, Mara Z Vitolins, Elizabeth Gamble, Robert Jones, Margaret C Chenault, Janet A Tooze
In addition to expediting patient recovery, community gardens that are associated with medical facilities can provide fresh produce to patients and their families, serve as a platform for clinic-based nutrition education, and help patients develop new skills and insights that can lead to positive health behavior change. While community gardening is undergoing resurgence, there is a strong need for evaluation studies that employ valid and reliable measures. The objective of this study was to conduct a process evaluation of a community garden program at an urban medical clinic to estimate the prevalence of patient awareness and participation, food security, barriers to participation, and personal characteristics; garden volunteer satisfaction; and clinic staff perspectives in using the garden for patient education/treatment...
November 29, 2016: Journal of Community Health
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