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https://www.readbyqxmd.com/read/29149772/natural-history-of-infantile-onset-spinal-muscular-atrophy
#1
Stephen J Kolb, Christopher S Coffey, Jon W Yankey, Kristin Krosschell, W David Arnold, Seward B Rutkove, Kathryn J Swoboda, Sandra P Reyna, Ai Sakonju, Basil T Darras, Richard Shell, Nancy Kuntz, Diana Castro, Julie Parsons, Anne M Connolly, Claudia A Chiriboga, Craig McDonald, W Bryan Burnette, Klaus Werner, Mathula Thangarajh, Perry B Shieh, Erika Finanger, Merit E Cudkowicz, Michelle M McGovern, D Elizabeth McNeil, Richard Finkel, Susan T Iannaccone, Edward Kaye, Allison Kingsley, Samantha R Renusch, Vicki L McGovern, Xueqian Wang, Phillip G Zaworski, Thomas W Prior, Arthur H M Burghes, Amy Bartlett, John T Kissel
OBJECTIVE: Infantile-onset spinal muscular atrophy (SMA) is the most common genetic cause of infant mortality, typically resulting in death prior to age 2. Clinical trials in this population require an understanding of disease progression and identification of meaningful biomarkers to hasten therapeutic development and predict outcomes. METHODS: A longitudinal, multi-center, prospective natural history study enrolled 26 SMA infants, and 27 control infants less than six months of age...
November 17, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/29148138/artificial-walking-technologies-to-improve-gait-in-cerebral-palsy-multichannel-neuromuscular-stimulation
#2
Jessica Rose, Katelyn Cahill-Rowley, Erin E Butler
Cerebral palsy (CP) is the most common childhood motor disability and often results in debilitating walking abnormalities, such as flexed-knee and stiff-knee gait. Current medical and surgical treatments are only partially effective in improving gait abnormalities and may cause significant muscle weakness. However, emerging artificial walking technologies, such as step-initiated, multichannel neuromuscular electrical stimulation (NMES), can substantially improve gait patterns and promote muscle strength in children with spastic CP...
November 2017: Artificial Organs
https://www.readbyqxmd.com/read/29148069/long-term-oral-exposure-to-safe-dose-of-bisphenol-a-in-association-with-high-fat-diet-stimulate-the-prostatic-lesions-in-a-rodent-model-for-prostate-cancer
#3
Camila H Facina, Silvana G P Campos, Bianca F Gonçalves, Rejane M Góes, Patricia S L Vilamaior, Sebastião R Taboga
BACKGROUND: Studies have shown that exposure to environmental chemicals known as endocrine disruptors can cause permanent changes in genital organs, such as the prostate. Among these environmental chemicals stands out bisphenol A (BPA). Another factor associated with prostate changes is the consumption of a high-fat diet. Although the relationship between the consumption of a high-fat diet and an increased risk of prostate cancer is well established, the mechanisms that lead to the establishment of this disease are not completely understood, nor the simultaneous action of BPA and high-fat diet...
November 17, 2017: Prostate
https://www.readbyqxmd.com/read/29147168/study-of-the-characteristics-of-pulmonary-trunk-in-pulmonary-hypertension-secondary-to-left-heart-disease-using-pressure-velocity-loops-pu-loops
#4
Shizuo Hanya, Kengo Yoshii, Motoaki Sugawara
Objectives: Although pulmonary hypertension (PH) caused by left heart disease (PH-LHD) is more common in PH, little is known about its properties of pulmonary artery (PA) in PH-LHD. The purpose of this study was to measure pulmonary regional pulse wave velocity (PWV) and to quantify the magnitude of reflected waves in patients with PH-LHD by the analysis of the pressure-velocity loops (PU-loop). Methods: High-fidelity PA pressure (Pm) and PA velocity (Vm) were measured in 11 subjects with PH-LHD (mean Pm>25 mmHg), 1 subject with atrial septal defect (ASD) without PH and 12 control subjects, using multisensor catheters...
September 25, 2017: Annals of Vascular Diseases
https://www.readbyqxmd.com/read/29146831/stent-assisted-coiling-of-cerebral-aneurysms-a-single-center-clinical-and-angiographic-analysis
#5
Jun Wang, Jan Vargas, Alejandro Spiotta, Imran Chaudry, Raymond D Turner, Jonathan Lena, Aquilla Turk
OBJECTIVE: This study retrospectively compared the clinical and angiographic outcomes of treating cerebral aneurysms with Neuroform (NEU), Enterprise (EP), and Low-profile Visualized Intraluminal Support (LVIS/LVIS Jr) stents. MATERIALS AND METHODS: We conducted a retrospective analysis of a procedural database. All aneurysm procedures using any of the three types of self-expanding nitinol stents (NEU, EP and LVIS/LVIS Jr) were included. Intra-procedure complications, post-procedure complications, and angiographic results (Raymond-Roy grade scale, RRGS) were analyzed retrospectively...
November 16, 2017: Journal of Neurointerventional Surgery
https://www.readbyqxmd.com/read/29146757/is-there-consensus-in-defining-childhood-cerebral-visual-impairment-a-systematic-review-of-terminology-and-definitions
#6
REVIEW
Hanna E A Sakki, Naomi J Dale, Jenefer Sargent, Teresa Perez-Roche, Richard Bowman
The childhood condition of visual difficulties caused by brain damage, commonly termed cortical or cerebral visual impairment (CVI), is well established but has no internationally accepted definition. Clarification of its core features is required to advance research and clinical practice. This systematic review aimed to identify the definitions of childhood CVI in the original scientific literature to describe and critically appraise a consensual definition of the condition. MEDLINE, EMBASE, PsychINFO, CINAHL and AMED databases were searched in January 2017...
November 16, 2017: British Journal of Ophthalmology
https://www.readbyqxmd.com/read/29146495/polysaccharides-from-citrus-grandis-l-osbeck-suppress-inflammation-and-relieve-chronic-pharyngitis
#7
Liyan Chen, Yongfeng Lai, Lei Dong, Shasha Kang, Xiumei Chen
Chronic pharyngitis, a common inflammation of the pharyngeal mucosa, is often caused by bacteria, viruses, alcohol abuse, overuse of the voice and cigarettes. This study aimed to explore the effects of polysaccharides of Citrus grandis L. Osbeck (PCG) in relieving chronic pharyngitis and illustrate the underlying mechanisms. Polysaccharides were obtained from PCG by column chromatographic extraction. Six clinical symptom scores, such as the severity of itchy throat, hoarseness, pain, odynophagia, cough and otalgia were evaluated in chronic pharyngitis patients after the oral intake of PCG...
November 13, 2017: Microbial Pathogenesis
https://www.readbyqxmd.com/read/29146469/percutaneous-transcystic-balloon-dilation-for-common-bile-duct-stone-removal-in-high-surgical-risk-patients-with-acute-cholecystitis-and-co-existing-choledocholithiasis
#8
Wujie Wang, Changjun Wang, Hongjun Qi, Yongzheng Wang, Yuliang Li
BACKGROUND: Percutaneous procedures to treat common bile duct (CBD) stones typically require access via intrahepatic bile ducts. This study aimed to describe the outcomes of a percutaneous transcystic approach that expelled the CBD stones into the duodenum after percutaneous transcystic balloon dilation of the ampulla (PTCBDA) for high-risk patients who present with acute cholecystitis and CBD stones. METHODS: Patients diagnosed with acute cholecystitis and CBD stones who were deemed too high-risk for surgery or general anesthesia and were treated with PTCBDA and CBD stone removal between March 2010 and November 2015 were included for further analysis...
November 13, 2017: HPB: the Official Journal of the International Hepato Pancreato Biliary Association
https://www.readbyqxmd.com/read/29145852/a-preliminary-evaluation-of-influence-of-body-mass-index-on-in-vitro-fertilization-outcome-in-non-obese-endometriosis-patients
#9
Eliana Garalejic, Biljana Arsic, Jovana Radakovic, Dragana Bojovic Jovic, Dragana Lekic, Biljana Macanovic, Ivan Soldatovic, Milan Perovic
BACKGROUND/AIMS: Obese and overweight women experience a lower probability for pregnancy after IVF. However, despite the increasing prevalence of obesity, the large majority of infertile women are non-obese. One of the most common indications for IVF is endometriosis. Thought-provoking inverse correlation has been established between BMI and endometriosis. Lower BMI is a risk factor for development of endometriosis and a predictive factor for severe endometriosis. Since severe endometriosis carries lower reproductive chances, even after IVF, we preliminary tested a hypothesis that higher BMI among non-obese endometriosis patients improves IVF outcomes...
November 16, 2017: BMC Women's Health
https://www.readbyqxmd.com/read/29145764/plasma-corticosterone-epinephrine-and-norepinephrine-levels-increase-during-administration-of-nitrous-oxide-in-rats
#10
Salwa Al-Noori, Andreas Cimpan, Zoe Maltzer, Karl J Kaiyala, Douglas S Ramsay
Nitrous oxide (N2O) is a gaseous drug with abuse potential. Despite its common clinical use, little is known about whether N2O administration activates the HPA axis and/or the sympathetic adrenomedullary system. The goal of this study was to determine whether 60% N2O alters plasma concentrations of corticosterone (CORT), epinephrine (EPI), and norepinephrine (NE) in male Long-Evans rats. A gas-tight swivel assembly in the lid of a gas administration chamber allowed the remote collection of blood samples from an indwelling jugular vein catheter at four time-points: baseline and at 30, 60, and 120 min during a two-hour administration of 60% N2O...
November 16, 2017: Stress: the International Journal on the Biology of Stress
https://www.readbyqxmd.com/read/29145595/synchrony-weather-and-cycles-in-southern-pine-beetle-coleoptera-curculionidae
#11
John D Reeve
Spatial synchrony and cycles are common features of forest insect pests, but are often studied as separate phenomenon. Using time series of timber damage caused by Dendroctonus frontalis Zimmermann (Coleoptera: Curculionidae) (southern pine beetle) in 10 states within the southern United States, this study examines synchrony in D. frontalis abundance, the synchronizing effects of temperature extremes, and the evidence for shared cycles among state populations. Cross-correlation and cluster analyses are used to quantify synchrony across a range of geographic distances and to identify groups of states with synchronous dynamics...
November 14, 2017: Environmental Entomology
https://www.readbyqxmd.com/read/29145435/functional-characterisation-of-filamentous-actin-probe-expression-in-neuronal-cells
#12
Shrujna Patel, Sandra Y Y Fok, Holly Stefen, Tamara Tomanić, Esmeralda Parić, Rosanna Herold, Merryn Brettle, Aleksandra Djordjevic, Thomas Fath
Genetically encoded filamentous actin probes, Lifeact, Utrophin and F-tractin, are used as tools to label the actin cytoskeleton. Recent evidence in several different cell types indicates that these probes can cause changes in filamentous actin dynamics, altering cell morphology and function. Although these probes are commonly used to visualise actin dynamics in neurons, their effects on axonal and dendritic morphology has not been systematically characterised. In this study, we quantitatively analysed the effect of Lifeact, Utrophin and F-tractin on neuronal morphogenesis in primary hippocampal neurons...
2017: PloS One
https://www.readbyqxmd.com/read/29145338/pancreatogenic-choledocholithiasis-in-common-bile-duct-stump-after-roux-en-y-hepaticojejunostomy-a-case-report
#13
Yuan-Hui Jiang, An-Hong Zhang, Shao-Jun Zhou
RATIONALE: Choledocholithiasis in common bile duct (CBD) stump after Roux-en-Y hepaticojejunostomy (RYHJ) is incredibly rare and its pathophysiology is poorly understood. PATIENT CONCERNS: A 79-year-old woman was admitted to our hospital with upper abdominal pain radiating through to the back in November 2016. DIAGNOSES: Abdominal computed tomography (CT) scan and magnetic resonance cholangiopancreatography (MRCP) revealed filling defects in CBD stump, chronic pancreatitis, and dilatation of CBD stump and main pancreatic duct (MPD)...
November 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29145327/current-practice-and-usual-care-of-major-cervical-disorders-in-korea-a-cross-sectional-study-of-korean-health-insurance-review-and-assessment-service-national-patient-sample-data
#14
A Ryeon Choi, Joon-Shik Shin, Jinho Lee, Yoon Jae Lee, Me-Riong Kim, Min-Seok Oh, Eun-Jung Lee, Sungchul Kim, Mia Kim, In-Hyuk Ha
Neck pain is a highly common condition and is the 4th major cause of years lived with disability. Previous literature has focused on the effect of specific treatments, and observations of actual practice are lacking to date. This study examined Korean health insurance review and assessment service (HIRA) claims data to the aim of assessing prevalence and comparing current medical practice and costs of cervical disorders in Korea.Current practice trends were determined through assessment of prevalence, total expenses, per-patient expense, average days in care, average days of visits, sociodemographic characteristics, distribution of medical costs, and frequency of treatment types of high frequency cervical disorders (cervical sprain/strain, cervical intervertebral disc displacement [IDD], and cervicalgia)...
November 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29144078/presence-of-household-mold-children-s-respiratory-health-and-school-absenteeism-cause-for-concern
#15
Eleoussa Polyzoi, Dimos Polyzois
A study examining the relationship between housing conditions, respiratory health, and school absenteeism was conducted in the city of Winnipeg in Manitoba, Canada. As part of this study, a survey was completed by 3,424 parents of children in grades 3 and 4 to determine the a) relationship between self-reported visible mold in homes and tested airborne mold; b) relationships of self-reported visible mold, tested airborne mold, and asthma and/or persistent colds; c) school absenteeism rates due to asthma and/or persistent colds; and d) children’s socioeconomic status (SES) and incidence of asthma and/or persistent colds...
March 2017: Journal of Environmental Health
https://www.readbyqxmd.com/read/29143198/the-effect-of-parental-age-on-nf1-patients-in-turkey
#16
P Sharafi, B Anlar, S Ersoy-Evans, A Varan, O F Yılmaz, M Turan, S Ayter
Neurofibromatosis type 1 (NF1) is the most common neurogenetic disorder worldwide, and its clinical presentations are highly variable. NF1 is caused by mutations in the NF1 gene, and 50% of NF1 cases are sporadic, which occur in the absence of a family history of the disease and usually result from a new mutation in the germline of a parent. Advanced paternal age may increase the risk for germinal NF1 mutations; however, some dominant conditions, including neurofibromatosis, have shown a lesser association with paternal age, although there are conflicting reports in the literature...
November 15, 2017: Journal of Community Genetics
https://www.readbyqxmd.com/read/29142973/renal-amyloidosis-associated-with-5-novel%C3%A2-variants-in-the-fibrinogen-a-alpha-chain-protein
#17
Dorota Rowczenio, Maria Stensland, Gustavo A de Souza, Erik H Strøm, Janet A Gilbertson, Graham Taylor, Nigel Rendell, Shane Minogue, Yvonne A Efebera, Helen J Lachmann, Ashutosh D Wechalekar, Philip N Hawkins, Ketil R Heimdal, Kristian Selvig, Inger K Lægreid, Nathalie Demoulin, Selda Aydin, Julian D Gillmore, Tale N Wien
Introduction: Fibrinogen A alpha chain amyloidosis is an autosomal dominant disease associated with mutations in the fibrinogen A alpha chain (FGA) gene, and it is the most common cause of hereditary renal amyloidosis in the UK. Patients typically present with kidney impairment and progress to end-stage renal disease over a median time of 4.6 years. Methods: Six patients presented with proteinuria, hypertension, and/or lower limb edema and underwent detailed clinical and laboratory investigations...
May 2017: KI Reports
https://www.readbyqxmd.com/read/29142954/asymmetric-dimethylarginine-adma-levels-are-lower-in-hemodialysis-patients%C3%A2-treated-with-paricalcitol
#18
Elena Oliva-Damaso, Nestor Oliva-Damaso, Francisco Rodriguez-Esparragon, Juan Payan, Alberto Marañes, Yanet Parodis, Lopez Eduardo Baamonde-Laborda, Nicanor Vega Diaz, Jose Carlos Rodriguez-Perez
Introduction: Chronic kidney disease is a major public health problem. In the last decade, it has been shown that the early stages of chronic kidney disease are associated with an inflammatory condition involving an increased risk of cardiovascular morbidity and long-term mortality. In patients with chronic kidney disease and more specifically those on hemodialysis, cardiovascular events are the most common cause of death. Asymmetric dimethylarginine (ADMA) is an endogenous inhibitor of nitric oxide synthase and may be an independent risk factor for endothelial dysfunction and cardiovascular disease...
March 2017: KI Reports
https://www.readbyqxmd.com/read/29142562/drug-poisoning-and-associated-factors-in-western-saudi-arabia-a-five-year-retrospective-chart-review-2011-2016
#19
Sami H Alzahrani, Ali H Alqahtani, Fayssal Mostafa Farahat, Mohammed Abdel Galil Elnour, Jamil Bashawri
Objective: Drug poisoning is a globally common cause of emergency-room admissions. This study explores drug-poisoning prevalence patterns, associated risk factors (gender, age and exposure circumstances), and outcomes in western Saudi Arabia. Methods: Retrospective analysis of Clinical drug poisoning cases (2011-2016). The data were retrieved from the Saudi Ministry of Health's record and Patients' medical charts were analyzed. Results: The Ministry of Health received 1,474 reports of drug poisoning during 2011-2016...
September 2017: Pakistan Journal of Medical Sciences Quarterly
https://www.readbyqxmd.com/read/29142457/comparison-of-cancer-incidence-and-mortality-in-three-gdp-per-capita-levels-in-china-2013
#20
Zhixun Yang, Rongshou Zheng, Siwei Zhang, Hongmei Zeng, Changfa Xia, He Li, Li Wang, Yanhong Wang, Wanqing Chen
Objective: In this research, the patterns of cancer incidence and mortality in areas with different gross domestic product per capita (GDPPC) levels in China were explored, using data from population-based cancer registries in 2013, collected by the National Central Cancer Registry (NCCR). Methods: Data from 255 cancer registries were qualified and included in this analysis. Based on the GDPPC data of 2014, cities/counties were divided into 3 levels: high-, middle- and low-GDPPC areas, with 40,000 and 80,000 RMB per year as cut points...
October 2017: Chinese Journal of Cancer Research, Chung-kuo Yen Cheng Yen Chiu
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