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Patient and family involvement

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https://www.readbyqxmd.com/read/28339662/hiv-1-proteins-influence-novelty-seeking-behavior-and-alter-region-specific-transcriptional-responses-to-chronic-nicotine-treatment-in-hiv-1tg-rats
#1
Zhongli Yang, Tanseli Nesil, Taylor Wingo, Sulie L Chang, Ming D Li
Introduction: Clinical studies suggest that HIV-1-infected patients are more likely to use or abuse addictive drugs than is the general population. We hypothesized that HIV-1 proteins impact novelty-seeking behavior and enhance the transcriptional response to nicotine in genes implicated in both novelty-seeking behavior and drug addiction. Methods: We assessed the effects of HIV-1 proteins on novelty-seeking behavior by comparing baseline activity differences of HIV-1Tg and F344 control rats in the open-field test...
February 17, 2017: Nicotine & Tobacco Research: Official Journal of the Society for Research on Nicotine and Tobacco
https://www.readbyqxmd.com/read/28339631/evidence-for-the-involvement-of-the-proximal-copy-of-the-magea9-gene-in-xq28-linked-cnv67-specific-to-spermatogenic-failure%C3%A2
#2
Ying Shen, Jinyan Xu, Xiling Yang, Yunqiang Liu, Yongyi Ma, Dong Yang, Qiang Dong, Yuan Yang
Spermatogenic failure characterized by impaired sperm production is a common multifactorial disease with molecular and cytogenetic causes for its extreme phenotype that include azoospermia and severe oliogzoospermia. Recently, a high-resolution array-comparative genomic hybridization analysis of the X chromosome and a subsequent cohort study revealed three X-linked microdeletions (CNV64, CNV67, and CNV69) that were associated with decreased sperm production in a mixed group that included Spanish and Italian males...
February 7, 2017: Biology of Reproduction
https://www.readbyqxmd.com/read/28338738/task-related-functional-connectivity-analysis-of-emotion-discrimination-in-a-family-study-of-schizophrenia
#3
Vina M Goghari, Nicole Sanford, Michael J Spilka, Todd S Woodward
Poor emotion recognition is a core deficit in schizophrenia and is associated with poor functional outcome. Functional magnetic resonance imaging (fMRI) multivariate analysis methods were used to elucidate the neural underpinnings of face and emotion processing associated with both genetic liability and disease-specific effects. Schizophrenia patients, relatives, and controls completed a task that included 4 facial emotion discrimination conditions and an age discrimination condition during fMRI. Three functional networks were derived from the data: the first involved in visual attention and response generation, the second a default mode network (DMN), and a third involved in face and emotion processing...
February 16, 2017: Schizophrenia Bulletin
https://www.readbyqxmd.com/read/28337730/current-concepts-of-shared-decision-making-in-orthopedic-surgery
#4
REVIEW
Kevin Klifto, Christopher Klifto, James Slover
PURPOSE OF REVIEW: The Shared Decision Making (SDM) model, a collaborative decision making process between the physician and patient to make an informed clinical decision that enhances the chance of treatment success as defined by each patient's preferences and values, has become a new and promising tool in the healthcare process; however, minimal data exists on its application in the orthopedic surgical specialty. Increasing evidence has demonstrated that this once novel idea can be implemented successfully in the orthopedic setting to improve patient outcomes...
March 23, 2017: Current Reviews in Musculoskeletal Medicine
https://www.readbyqxmd.com/read/28337704/analysis-of-traditional-and-emerging-risk-factors-in-premenopausal-women-with-coronary-artery-disease-a-pilot-scale-study-from-north-india
#5
Rajesh Vijayvergiya, Divya Kapoor, Ajay Aggarwal, Sonal Sangwan, Vanita Suri, Veena Dhawan
Premenopausal women are known to have less heart disease than their menopausal counterparts and men. However, there is a rising prevalence of coronary artery disease (CAD) in premenopausal females, which necessitates determination of risk factors that negate the effects of hormonal protection. There are few studies describing the prevalence of traditional and emerging risk factors in premenopausal women with CAD. Thus, our objective was to explore the prevalence of traditional and emerging risk factors and features of coronary lesions in premenopausal women with CAD in an Indian population...
March 23, 2017: Molecular and Cellular Biochemistry
https://www.readbyqxmd.com/read/28337648/diagnosis-and-treatment-of-alternating-hemiplegia-of-childhood
#6
REVIEW
Melanie Masoud, Lyndsey Prange, Jeffrey Wuchich, Arsen Hunanyan, Mohamad A Mikati
The diagnosis and treatment of patients with Alternating Hemiplegia of Childhood (AHC) and related disorders should be provided by a multidisciplinary team experienced with the spectrum of presentations of this disease, with its related disorders, with its complex and fluctuating manifestations, and with cutting edge advances occurring in the field. Involvement in research to advance the understanding of this disease and partnership with international collaborators and family organizations are also important...
February 2017: Current Treatment Options in Neurology
https://www.readbyqxmd.com/read/28337542/%C3%AE-synuclein-binds-to-the-er-mitochondria-tethering-protein-vapb-to-disrupt-ca-2-homeostasis-and-mitochondrial-atp-production
#7
Sébastien Paillusson, Patricia Gomez-Suaga, Radu Stoica, Daniel Little, Paul Gissen, Michael J Devine, Wendy Noble, Diane P Hanger, Christopher C J Miller
α-Synuclein is strongly linked to Parkinson's disease but the molecular targets for its toxicity are not fully clear. However, many neuronal functions damaged in Parkinson's disease are regulated by signalling between the endoplasmic reticulum (ER) and mitochondria. This signalling involves close physical associations between the two organelles that are mediated by binding of the integral ER protein vesicle-associated membrane protein-associated protein B (VAPB) to the outer mitochondrial membrane protein, protein tyrosine phosphatase-interacting protein 51 (PTPIP51)...
March 23, 2017: Acta Neuropathologica
https://www.readbyqxmd.com/read/28337372/mir-429-mediates-tumor-growth-and-metastasis-in-colorectal-cancer
#8
Yantao Han, Qian Zhao, Jie Zhou, Rui Shi
Colorectal cancer (CRC), presenting the third most common malignancy worldwide. In recent years, the aberrantly upregulation or downregulation of miRNAs in CRC have been evidenced in a number of studies. In this study, our results showed that the expression of miR-429 was significantly higher in CRC tissue compared with adjacent non-tumor tissue. In addition, our findings showed that miR-429 level was significantly associated with clinicoplathological features and prognosis of patients with CRC. Moreover, our findings showed that miR-429 exerted oncogenic effect by directly targeting HOXA5, a transcription factor of HOX families that is involved in the development and progression of CRC...
2017: American Journal of Cancer Research
https://www.readbyqxmd.com/read/28336437/overexpression-of-tacc3-is-correlated-with-tumor-aggressiveness-and-poor-prognosis-in-prostate-cancer
#9
Qiji Li, Liping Ye, Wei Guo, Min Wang, Shuai Huang, Xinsheng Peng
Transforming acidic coiled-coil (TACC3), a member of the TACC family, was previously reported to be deregulated in various cancers and identified to be involved in the tumor progression. However, its biological role and molecular mechanism in prostate cancer (PCa) have not been defined. Herein, we found that TACC3 was markedly upregulated in metastatic PCa. Upregulation of TACC3 was significantly associated with metastasis status, tumor stage, total PSA level, and Gleason score in PCa patients. Moreover, Kaplan-Meier survival analysis showed that PCa patients with high TACC3 had shorter disease-free survivals than those with low TACC3 expression...
March 20, 2017: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/28336122/familial-acute-necrotizing-encephalopathy-with-ranbp2-mutation-the-first-report-in-northeast-asia
#10
Yun-Jeong Lee, Su-Kyeong Hwang, So Mi Lee, Soonhak Kwon
BACKGROUND: Acute necrotizing encephalopathy (ANE) is a rare but rapidly progressing encephalopathy following a febrile illness, commonly a viral infection. It is characterized by the features of acute encephalopathy such as seizure, alteration of consciousness, and symmetric involvement of the bilateral thalamus on neuroimaging tests. Although most ANE cases have occurred sporadically, familial or recurrent ANE has been reported in Caucasian patients, with genetic susceptibility to ANE noted in some patients due to a RANBP2 mutation...
March 20, 2017: Brain & Development
https://www.readbyqxmd.com/read/28335084/identification-of-new-bmp6-pro-peptide-mutations-in-patients-with-iron-overload
#11
Chiara Piubelli, Annalisa Castagna, Giacomo Marchi, Monica Rizzi, Fabiana Busti, Sadaf Badar, Monia Marchetti, Marco De Gobbi, Antonella Roetto, Luciano Xumerle, Eda Suku, Alejandro Giorgetti, Massimo Delledonne, Oliviero Olivieri, Domenico Girelli
Hereditary Hemochromatosis (HH) is a genetically heterogeneous disorder caused by mutations in at least 5 different genes (HFE, HJV, TFR2, SLC40A1, HAMP) involved in the production or activity of the liver hormone hepcidin, a key regulator of systemic iron homeostasis. Nevertheless, patients with an HH-like phenotype that remains completely/partially unexplained despite extensive sequencing of known genes are not infrequently seen at referral centers, suggesting a role of still unknown genetic factors. A compelling candidate is Bone Morphogenetic Protein 6 (BMP6), which acts as a major activator of the BMP-SMAD signaling pathway, ultimately leading to the upregulation of hepcidin gene transcription...
March 23, 2017: American Journal of Hematology
https://www.readbyqxmd.com/read/28334753/alcohol-screening-among-young-people-a-prospective-study-from-the-swiss-sentinel-surveillance-system-sentinella-of-physicians-a-priori-opinions
#12
Coralie Wenger-Bonny, Adjua Alexandra N'goran, Jérôme Pasquier, Charles Dvorak, Dagmar M Haller, Lilli Herzig
Background.: Systematic screening for excessive alcohol use among young people is recommended but rarely implemented. Family practitioners tend to select patients for screening, based on their preliminary subjective opinions, which may be biased. Objective.: To evaluate the ability of family practitioners to identify excessive alcohol use among young people prior to screening them. Methods.: This prospective study was conducted through Sentinella, an epidemiological network involving 150 family practitioners across Switzerland...
February 22, 2017: Family Practice
https://www.readbyqxmd.com/read/28333852/re-intervention-in-de-novo-vitreous-opacities-after-pars-plana-vitrectomy-in-familial-amyloidotic-polyneuropathy-ttr-val30metportuguese-patients
#13
Natália Novais Ferreira, David Afonso Cunha Dias, Rui Pedro Afonso Carvalho, Maria Teresa Pardal Monteiro Coelho
PURPOSE: To report management of de novo vitreous amyloid opacities after previous pars plana vitrectomy in familial amyloidotic polyneuropathy transthyretin Val30Met. METHODS: This work is a retrospective observational consecutive case series of five eyes of four patients. Demographic data, transthyretin mutation involved, age at the beginning of disease, duration of disease, treatment (liver transplant or tafamidis), time between vitrectomy and re-intervention, and ophthalmologic changes were evaluated...
March 22, 2017: Retinal Cases & Brief Reports
https://www.readbyqxmd.com/read/28333263/loss-of-luteotropic-prostaglandin-e-plays-an-important-role-in-the-regulation-of-luteolysis-in-women
#14
Junko Nio-Kobayashi, Masataka Kudo, Noriaki Sakuragi, Toshihiko Iwanaga, W Colin Duncan
STUDY QUESTION: Do intraluteal prostaglandins (PG) contribute to luteal regulation in women? SUMMARY ANSWER: Prostaglandin E (PGE), which is produced in human granulosa-lutein cells stimulated with luteotropic hCG, exerts similar luteotropic effects to hCG, and the expression of PG synthetic and metabolic enzymes in the human CL is driven toward less PGE but more prostaglandin F (PGF) during luteolysis. WHAT IS KNOWN ALREADY: Uterine PGF is a major luteolysin in many non-primate species but not in women...
March 17, 2017: Molecular Human Reproduction
https://www.readbyqxmd.com/read/28333167/a-complex-intragenic-rearrangement-of-ercc8-in-chinese-siblings-with-cockayne-syndrome
#15
Hua Xie, Xiaoyan Li, Jiping Peng, Qian Chen, ZhiJie Gao, Xiaozhen Song, WeiYu Li, Jianqiu Xiao, Caihua Li, Ting Zhang, James F Gusella, Jianmin Zhong, Xiaoli Chen
Cockayne syndrome is an autosomal recessive disorder principally characterized by postnatal growth failure and progressive neurological dysfunction, due primarily to mutations in ERCC6 and ERCC8. Here, we report our diagnostic experience for two patients in a Chinese family suspected on clinical grounds to have Cockayne syndrome. Using multiple molecular techniques, including whole exome sequencing, array comparative genomic hybridization and quantitative polymerase chain reaction, we identified compound heterozygosity for a maternal splicing variant (chr5:60195556, NM_000082:c...
March 23, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28333147/solute-carrier-family-12-member-5-promotes-tumor-invasion-metastasis-of-bladder-urothelial-carcinoma-by-enhancing-nf-%C3%AE%C2%BAb-mmp-7-signaling-pathway
#16
J Y Liu, Y B Dai, X Li, K Cao, D Xie, Z T Tong, Z Long, H Xiao, M K Chen, Y L Ye, B Liu, J Tan, J Tang, Z Z Xu, Y Gan, Y H Zhou, F Deng, L Y He
Solute carrier family 12 member 5 (SLC12A5), an integral membrane KCl cotransporter, which maintains chloride homeostasis in neurons, is aberrantly expressed and involved in the tumorigenesis of certain cancers. However, the clinical significance and biological role of SLC12A5 in human bladder urothelial carcinoma (BUC) remains unclear. In this study, the expression of SLC12A5 was examined in clinical specimens of primary BUC and in BUC cell lines using quantitative real-time reverse transcription polymerase chain reaction (qRT-PCR), western blot and immunohistochemistry (IHC)...
March 23, 2017: Cell Death & Disease
https://www.readbyqxmd.com/read/28332952/dying-for-love-an-attachment-problem-with-some-perpetrator-introjects
#17
Valerie Sinason
This paper focuses on some problematic victim-perpetrator dynamics in psychotherapy with patients with Dissociative Identity Disorder where there has been longstanding multi-perpetrator organized abuse described, which also involves family members. Additionally, in this specific sample, there have been reported experiences of serious assaults from attachment figures in which the patient felt close to death. The clinical concern is expressed that only in the nearness of death is a connection felt to the attachment figure and this leads to extra suicidality in the patient and extra vulnerability to secondary traumatization for the therapist...
March 1, 2017: Journal of Trauma & Dissociation
https://www.readbyqxmd.com/read/28332767/bcap31-associated-encephalopathy-and-complex-movement-disorder-mimicking-mitochondrial-encephalopathy
#18
Saleh Albanyan, Amal Al Teneiji, Nasim Monfared, Saadet Mercimek-Mahmutoglu
BCAP31, encoded by BCAP31, is involved in the export of transmembrane proteins from the endoplasmic reticulum. Pathogenic variants in BCAP31 results in global developmental delay, dystonia, deafness and dysmorphic features in males, called deafness, dystonia, and cerebral hypomyelination (DDCH) syndrome. We report a new patient with BCAP3-associated encephalopathy, DDCH syndrome, sensorineural hearing loss, generalized dystonia, and choreoathetosis. This 3.5-year-old boy had microcephaly and failure to thrive within the first 3 months of life...
March 23, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28331415/structure-of-resilience-among-japanese-adult-patients-with-type-1-diabetes-a-qualitative-study
#19
Ikuko Nishio, Masami Chujo
BACKGROUND: Resilience is the process of overcoming adversities and difficulties. We clarified the structure of resilience and its motivational power among adult Japanese patients with type 1 diabetes. This is likely to help ensure effective nursing support to empower patients with diabetes and help them recuperate and improve their personal lives. METHODS: Participants were 17 patients with type 1 diabetes, and data were collected using semi-structured interviews...
March 2017: Yonago Acta Medica
https://www.readbyqxmd.com/read/28331304/does-urinary-peptide-content-differ-between-copd-patients-with-and-without-inherited-alpha-1-antitrypsin-deficiency
#20
Alfonso Carleo, Joanna Chorostowska-Wynimko, Thomas Koeck, Harald Mischak, Małgorzata Czajkowska-Malinowska, Adriana Rozy, Tobias Welte, Sabina Janciauskiene
Differentiating between chronic obstructive pulmonary disease (COPD) patients with normal (PiMM) or deficient (PiZZ) genetic variants of alpha-1 antitrypsin (A1AT) is important not only for understanding the pathobiology of disease progression but also for improving personalized therapies. This pilot study aimed to investigate whether urinary peptides reflect the A1AT-related phenotypes of COPD. Urine samples from 19 clinically stable COPD cases (7 PiMM and 12 PiZZ A1AT) were analyzed by capillary electrophoresis coupled to mass spectrometry...
2017: International Journal of Chronic Obstructive Pulmonary Disease
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