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https://www.readbyqxmd.com/read/28938745/a-closer-look-at-expanded-carrier-screening-from-a-pgd-perspective
#1
Carolina Vaz-de-Macedo, Joyce Harper
Conventionally, the search for carrier status was based on ethnicity and/or family history and targeted to a restricted number of genetic conditions and mutations. This is now being replaced by extended panels testing for hundreds of genetic disorders with a broad range of phenotypes, in what is called 'expanded carrier screening'. While the ultimate aim of these panels is to increase the reproductive autonomy of the individuals and couples by providing preconception knowledge that could lead to the broadest range of available options, including PGD, we argue that: (i) Given the number and heterogeneity of the conditions included in panels, it cannot be guaranteed that a couple who tests positive for one of those conditions will be eligible for PGD; patients should be informed of this potential limitation before undertaking screening...
October 1, 2017: Human Reproduction
https://www.readbyqxmd.com/read/28938676/risk-factors-for-mortality-from-pneumocystis-carinii-pneumonia-pcp-in-non-hiv-patients-a-meta-analysis
#2
Yao Liu, Lili Su, Shu-Juan Jiang, Hui Qu
The number of patients with non-human immunodeficiency virus (HIV) related pneumocystis carinii pneumonia (PCP) is increasing with widespread immunosuppressive treatment. We performed a meta-analysis to describe the clinical characteristics and factors associated with outcomes of PCP in HIV-negative patients. A total of 13 studies including 867 patients with non-HIV related PCP was included. The overall mortality for non-HIV patients with PCP was 30.6%. The most common underlying disorder for the development of PCP is hematological malignancies (29...
August 29, 2017: Oncotarget
https://www.readbyqxmd.com/read/28938659/prognostic-value-of-the-long-noncoding-rna-hottip-in-human-cancers
#3
Wei Li, Na Li, Xinmei Kang, Ke Shi, Qiong Chen
Human Homeobox A transcript at the distal tip (HOTTIP) is a putative oncogene in solid tumors. We performed a meta-analysis to investigate the association between HOTTIP expression and clinical outcomes in cancer patients. Eligible studies were collected from a literature search of the online electronic databases of Embase, Web of Science, PubMed and the China National Knowledge Infrastructure (up to January 2, 2017). Fixed-effects models were used to compute pooled odds ratios (ORs) and hazard ratios (HRs)...
August 29, 2017: Oncotarget
https://www.readbyqxmd.com/read/28938658/comparison-of-direct-sequencing-and-amplification-refractory-mutation-system-for-detecting-epidermal-growth-factor-receptor-mutation-in-non-small-cell-lung-cancer-patients-a-systematic-review-and-meta-analysis
#4
Qi Feng, Zu-Yao Yang, Jia-Tong Zhang, Jin-Ling Tang
BACKGROUND: Direct sequencing and amplification refractory mutation system (ARMS) are commonly used to detect epidermal growth factor receptor (EGFR) mutation status in patients with non-small-cell lung cancer to inform the decision-making on tyrosine kinase inhibitors treatment. This study aimed to systematically compare the two methods in terms of the rate of detected mutations and the association of detected mutations with clinical outcomes. MATERIAL AND METHODS: PubMed, EMBASE, China National Knowledge Infrastructure (in Chinese) and Wanfang database (in Chinese) were searched to identify relevant studies...
August 29, 2017: Oncotarget
https://www.readbyqxmd.com/read/28938657/a-network-meta-analysis-on-the-efficacy-of-targeted-agents-in-combination-with-chemotherapy-for-treatment-of-advanced-metastatic-triple-negative-breast-cancer
#5
Long Ge, Yan Tang, Qiu-Ning Zhang, Jin-Hui Tian, Xiao-Hu Wang, Dawid Pieper, Bei Pan, Lun Li, Juan Ling, Zhi-Tong Bing, Ke-Hu Yang
OBJECTIVE: Our network meta-analysis aimed to determine the assistant efficacy of targeted therapy in combined with chemotherapy for advanced/metastatic triple-negative breast cancer (TNBC). RESULTS: A total of 15 randomized controlled trials (RCTs), involving 2,410 patients, met our inclusion criteria. Eight targeted agents involving 11 treatment arms were included. The methodological quality of included RCTs was acceptable. The results of direct comparisons showed that progression-free survival (PFS) was significantly longer with bevacizumab+chemotherapy when compared to chemotherapy alone (hazard ratio [HR] = 0...
August 29, 2017: Oncotarget
https://www.readbyqxmd.com/read/28938630/prognostic-role-of-neutrophil-lymphocyte-ratio-in-patients-with-glioma
#6
Jing Zhang, Sunfu Zhang, Yanlin Song, Min He, Qingqing Ren, Chaoyue Chen, Zhiyong Liu, Yunhui Zeng, Jianguo Xu
The purpose of this study was to evaluate the prognostic role of neutrophil lymphocyte ratio (NLR) in patients with glioma. PubMed, EMBASE, Cochrane Library and China National Knowledge Infrastructure were searched for relevant literature. The study and patient characteristics were extracted. Hazard ratios (HRs) with 95% confidence intervals (CIs) were pooled to estimate the prognostic role of NLR in patients with glioma. Subgroup analysis and sensitivity analysis were also performed. Six studies with 1,021 patients were included...
August 29, 2017: Oncotarget
https://www.readbyqxmd.com/read/28938625/predictive-value-of-preoperative-retinal-nerve-fiber-layer-thickness-for-postoperative-visual-recovery-in-patients-with-chiasmal-compression
#7
Jing Zhang, Sunfu Zhang, Yanlin Song, Chenjing Zhu, Min He, Qingqing Ren, Baoyin Shan, Ziqiong Wang, Yunhui Zeng, Jianguo Xu
The aim of this study was to evaluate the predictive role of preoperative retinal nerve fiber layer (RNFL) thickness for postoperative visual recovery in patients with chiasmal compression through performing a meta-analysis. PubMed, EMBASE, Cochrane Library and China National Knowledge Infrastructure were searched for relevant studies. The study and patient characteristics were extracted. Pooled odds ratio (OR) with 95% confidence interval (CI) was calculated to estimate the predictive value of RNFL thickness...
August 29, 2017: Oncotarget
https://www.readbyqxmd.com/read/28938469/taming-the-flames-targeting-white-adipose-tissue-browning-in-hypermetabolic-conditions
#8
Abdikarim Abdullahi, Marc G Jeschke
In this era of increased obesity and diabetes prevalence, the browning of white adipose tissue (WAT) has emerged as a promising therapeutic target to induce weight loss and improve insulin sensitivity in this population. The browning process entails a shift in the WAT from primarily storing excess energy to the dissipation of energy as heat. However, this idealistic view of WAT browning being the saviour of the metabolic syndrome has been criticized by studies in burns and cancer patients that have shown browning to be detrimental rather than being beneficial...
August 30, 2017: Endocrine Reviews
https://www.readbyqxmd.com/read/28938303/optimizing-education-in-difficult-airway-management-meeting-the-challenge
#9
Sheila N Myatra, Rupali S Kalkundre, Jigeeshu V Divatia
PURPOSE OF REVIEW: The last 2 decades have seen a vast change in the science and technology of airway management. As a result, there is an increasing need to equip anesthesiologists with the new knowledge and skills for the safe management of a difficult airway. RECENT FINDINGS: In addition to knowledge and expertise, human factors and nontechnical skills (NTS), including situational awareness, communication and team work, play an important role during difficult airway management and contribute to the outcome...
September 21, 2017: Current Opinion in Anaesthesiology
https://www.readbyqxmd.com/read/28938179/does-simulation-enhance-nurses-ability-to-assess-deteriorating-patients
#10
Maria Bliss, Leanne M Aitken
Recognising and responding to patient deterioration has been identified as a key skill in nursing care to ensure that care is escalated for prompt, efficient management of the potentially critically ill patient. Simulation is one teaching strategy that has been established in nurse education as a method for enhancing skills. The objective was to explore the experiences of registered nurses to ascertain whether they perceived that simulation enhanced their skills in recognising the deteriorating patient. An exploratory qualitative design was used...
September 12, 2017: Nurse Education in Practice
https://www.readbyqxmd.com/read/28937936/is-high-t-1-slope-a-significant-risk-factor-for-developing-interlaminar-bony-fusion-after-cervical-laminoplasty-a-retrospective-cohort-study
#11
Takeshi Oichi, Yasushi Oshima, Hiroyuki Oka, Yuki Taniguchi, Hirotaka Chikuda, Yoshitaka Matsubayashi, Katsushi Takeshita, Sakae Tanaka
OBJECTIVE Several investigators have reported the occurrence of interlaminar bony fusion after cervical laminoplasty, which is reportedly associated with reduced postoperative cervical range of motion (ROM). However, to the authors' knowledge, no previous study has investigated the characteristics of patients who were likely to develop interlaminar bony fusion after cervical laminoplasty. Therefore, the objective of this study was to investigate the risk factors for interlaminar bony fusion in patients with cervical spondylotic myelopathy (CSM) following cervical laminoplasty and to investigate the effect of interlaminar bony fusion on surgical outcomes...
September 15, 2017: Journal of Neurosurgery. Spine
https://www.readbyqxmd.com/read/28937804/obesity-and-endometrial-cancer-a-lack-of-knowledge-but-opportunity-for-intervention
#12
Ashley F Haggerty, David B Sarwer, Kathryn H Schmitz, Emily M Ko, Kelly C Allison, Christina S Chu
OBJECTIVE: The causal link between obesity and endometrial cancer is well established; however obese women's knowledge of this relationship is unknown. Our objective was to explore patients' understanding of this relationship and assess the acceptability of a technology-based weight loss intervention. METHODS/MATERIALS: Obese women with Type I endometrial cancer/hyperplasia were surveyed about their assessment of their body mass, knowledge of the relationship of obesity and endometrial cancer, and eating and activity habits...
September 22, 2017: Nutrition and Cancer
https://www.readbyqxmd.com/read/28937771/urinary-metabolic-phenotyping-of-women-with-lower-urinary-tract-symptoms
#13
Rhiannon Bray, Stefano Cacciatore, Beatriz Jimenez, Rufus Cartwright, Alex Digesu, Ruwan Fernando, Elaine Holmes, Jeremy Kirk Nicholson, Phillip R Bennett, David A MacIntyre, Vik Khullar
Lower urinary tract symptoms (LUTS), including urinary incontinence, urgency and nocturia, affect approximately half of women worldwide. Current diagnostic methods for LUTS are invasive and costly, while available treatments are limited by side effects leading to poor patient compliance. In this study, we aimed to identify urine metabolic signatures associated with LUTS using proton nuclear magnetic resonance ((1)H-NMR) spectroscopy. A total of 214 urine samples were collected from women attending tertiary urogynaecology clinics (cases; n=176) and healthy control women attending general gynecology clinics (n=36)...
September 22, 2017: Journal of Proteome Research
https://www.readbyqxmd.com/read/28937624/therapeutic-mechanisms-of-vernonia-amygdalina-delile-in-the-treatment-of-prostate-cancer
#14
William Johnson, Paul B Tchounwou, Clement G Yedjou
Prostate cancer patients have been suffering from limited treatment options due to late diagnosis, poor drug tolerance, and multi-drug resistance to almost all the current drug treatments. Therefore, it is important to seek a new alternative therapeutic medicine that can effectively prevent the disease and even eradicate the progression and metastasis of prostate cancer. Vernonia amygdalina Delile (VAD) is a common edible vegetable in Cameroon that has been used as a traditional medicine for some human diseases...
September 22, 2017: Molecules: a Journal of Synthetic Chemistry and Natural Product Chemistry
https://www.readbyqxmd.com/read/28937620/dysbindin-1-involvement-in-the-etiology-of-schizophrenia
#15
REVIEW
Haitao Wang, Jiangping Xu, Philip Lazarovici, Wenhua Zheng
Schizophrenia is a major psychiatric disorder that afflicts about 1% of the world's population, falling into the top 10 medical disorders causing disability. Existing therapeutic strategies have had limited success on cognitive impairment and long-term disability and are burdened by side effects. Although new antipsychotic medications have been launched in the past decades, there has been a general lack of significant innovation. This lack of significant progress in the pharmacotherapy of schizophrenia is a reflection of the complexity and heterogeneity of the disease...
September 22, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28937549/electroconvulsive-therapy-for-super-refractory-status-epilepticus
#16
Jayme Ahmed, Michael Metrick, Anne Gilbert, Anita Glasson, Ranjeet Singh, Wayne Ambrous, Lori Brown, Laura Aykroyd, Karen Bobel
OBJECTIVES: Super refractory status epilepticus (SRSE) is a stage beyond refractory status that requires general anesthesia as management. Electroconvulsive therapy (ECT) is recommended only as a potential treatment option beyond general anesthesia and after all other options have been exhausted. Its effect on aborting status has been minimally researched. We present the largest case series to our knowledge exploring the effect of ECT on SRSE. METHODS: Eight adults hospitalized for SRSE received ECT in an attempt to abort status after other treatment modalities were exhausted...
September 20, 2017: Journal of ECT
https://www.readbyqxmd.com/read/28937487/focal-hepatic-glycogenosis-in-a-patient-with-uncontrolled-diabetes-mellitus-type-1
#17
Tetiana Glushko, Sergiy V Kushchayev, Dmitry Trifanov, Aliaksei Salei, Diego Morales, Gerard Berry, Justin Mackey, Oleg M Teytelboym
Hepatomegaly and elevated liver enzymes in patients with diabetes are commonly associated with fatty liver disease. However, physicians often forget about another intrinsic substance that can cause a similar clinical picture-glycogen. Liver stores approximately one third of the total body glycogen and is responsible for blood glucose homeostasis. Excessive hepatocellular glycogen accumulation occurs not only in congenital glycogen storage diseases, but also in acquired conditions associated with hyperglycemic-hyperinsulinemic states such as uncontrolled diabetes mellitus, high-dose corticosteroid use, and dumping syndrome...
September 20, 2017: Journal of Computer Assisted Tomography
https://www.readbyqxmd.com/read/28937454/life-expectancy-and-metastatic-spine-scoring-systems-an-academic-institutional-experience
#18
Brian T Ragel, Gustavo A Mendez, Justin Reddington, David Ferachi, Charlotte D Kubicky, Travis C Philipp, Natalie L Zusman, Paul Klimo, Robert Hart, Jung Yoo, Alex C Ching
STUDY DESIGN: A retrospective data collection study with application of metastatic spine scoring systems. OBJECTIVES: To apply the Tomita and revised Tokuhashi scoring systems to a surgical cohort at a single academic institution and analyze spine-related surgical morbidity and mortality rates. SUMMARY OF BACKGROUND DATA: Surgical management of metastatic spine patients requires tools that can accurately predict patient survival, as well as knowledge of morbidity and mortality rates...
October 2017: Clinical Spine Surgery
https://www.readbyqxmd.com/read/28937385/primary-classical-hodgkin-lymphoma-of-rectum-report-of-an-extremely-rare-case-and-review-of-the-literature
#19
Jayasudha Arundhathi Vasudevan, Rekha A Nair, K Rakul Nambiar
Hodgkin lymphoma (HL) commonly presents as nodal disease, but in a subset of cases, the disease primarily develops in extranodal sites. Primary classical HL of the gastrointestinal (GI) tract is an extremely rare occurrence. Primary nature of the disease is confirmed after a complete lymphoma work up including chest radiograph, computed tomography scan, peripheral blood, and bone marrow studies. Only a few cases of primary GI lymphomas with limited immunohistochemical or molecular confirmation have been reported in literature...
July 2017: Indian Journal of Pathology & Microbiology
https://www.readbyqxmd.com/read/28937383/multicentric-papillary-and-chromophobe-renal-cell-carcinomas-in-a-patient-with-autosomal-dominant-polycystic-kidney-disease-report-of-a-rare-case
#20
Nibedita Sahoo, Susama Patra, Swagatika Senapati, Tushar S Mishra
The causal relationship of autosomal dominant polycystic kidney disease (ADPKD) with the development of renal cell carcinoma (RCC) is still not known. We describe a case of bilateral PKD complicated with a large enhancing mass and multiple small nodules in the left kidney. The histopathological study of the nephrectomy specimen revealed the synchronous occurrence of eosinophilic variant of chromophobe RCC (EVCRCC) and multicentric papillary RCC (PRCC) in a background of ADPKD. To the best of our knowledge, this case is the first to describe the collision tumor of EVCRCC and multicentric PRCC in ADPKD...
July 2017: Indian Journal of Pathology & Microbiology
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