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Lowe Syndrome

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https://www.readbyqxmd.com/read/28445745/increased-tissue-stiffness-in-tumors-from-mice-with-neurofibromatosis-1-optic-glioma
#1
Christopher Walter, Lindsey Crawford, Melinda Lai, Joseph A Toonen, Yuan Pan, Shelly Sakiyama-Elbert, David H Gutmann, Amit Pathak
Children with neurofibromatosis type 1 (NF1) cancer predisposition syndrome are prone to the development of low-grade brain tumors (gliomas) within the optic pathway (optic gliomas). One of the key obstacles to developing successful therapeutic strategies for these tumors is the striking lack of information about the mechanical properties that characterize these tumors relative to non-neoplastic optic nerve tissue. To study the physical changes that may occur when an optic nerve glioma is present, we employed atomic force microscopy to measure the stiffness of healthy versus tumor-bearing optic nerve tissue...
April 25, 2017: Biophysical Journal
https://www.readbyqxmd.com/read/28445548/assessing-the-severity-of-sleep-apnea-syndrome-based-on-ballistocardiogram
#2
Zhu Wang, Xingshe Zhou, Weichao Zhao, Fan Liu, Hongbo Ni, Zhiwen Yu
BACKGROUND: Sleep Apnea Syndrome (SAS) is a common sleep-related breathing disorder, which affects about 4-7% males and 2-4% females all around the world. Different approaches have been adopted to diagnose SAS and measure its severity, including the gold standard Polysomnography (PSG) in sleep study field as well as several alternative techniques such as single-channel ECG, pulse oximeter and so on. However, many shortcomings still limit their generalization in home environment. In this study, we aim to propose an efficient approach to automatically assess the severity of sleep apnea syndrome based on the ballistocardiogram (BCG) signal, which is non-intrusive and suitable for in home environment...
2017: PloS One
https://www.readbyqxmd.com/read/28445436/irritable-bowel-syndrome-clinical-manifestations-dietary-influences-and-management
#3
REVIEW
Ronald Ikechi, Bradford D Fischer, Joshua DeSipio, Sangita Phadtare
Irritable bowel syndrome (IBS) is a functional gastrointestinal disorder that is characterized by symptoms of chronic abdominal pain and altered bowel habits in the absence of an overtly identifiable cause. It is the most commonly diagnosed functional gastrointestinal disorder, accounting for about one third of gastroenterology visits. It generally presents as a complex of symptoms, including psychological dysfunction. Hypersensitivity to certain foods, especially foods that contain high amounts of fructose, plays a role in the pathophysiology of IBS...
April 26, 2017: Healthcare (Basel, Switzerland)
https://www.readbyqxmd.com/read/28444788/night-sleep-in-patients-with-vegetative-state
#4
Yuri G Pavlov, Steffen Gais, Friedemann Müller, Monika Schönauer, Barbara Schäpers, Jan Born, Boris Kotchoubey
Polysomnographic recording of night sleep was carried out in 15 patients with the diagnosis vegetative state (syn. unresponsive wakefulness syndrome). Sleep scoring was performed by three raters, and confirmed by means of a spectral power analysis of the electroencephalogram, electrooculogram and electromyogram. All patients but one exhibited at least some signs of sleep. In particular, sleep stage N1 was found in 13 patients, N2 in 14 patients, N3 in nine patients, and rapid eye movement sleep in 10 patients...
April 26, 2017: Journal of Sleep Research
https://www.readbyqxmd.com/read/28444695/exercise-therapy-for-chronic-fatigue-syndrome
#5
REVIEW
Lillebeth Larun, Kjetil G Brurberg, Jan Odgaard-Jensen, Jonathan R Price
BACKGROUND: Chronic fatigue syndrome (CFS) is characterised by persistent, medically unexplained fatigue, as well as symptoms such as musculoskeletal pain, sleep disturbance, headaches and impaired concentration and short-term memory. CFS presents as a common, debilitating and serious health problem. Treatment may include physical interventions, such as exercise therapy, which was last reviewed in 2004. OBJECTIVES: The objective of this review was to determine the effects of exercise therapy (ET) for patients with CFS as compared with any other intervention or control...
April 25, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28444079/use-of-noninvasive-ventilation-in-severe-acute-respiratory-distress-syndrome-due-to-accidental-chlorine-inhalation-a-case-report
#6
Adriano Medina Matos, Rodrigo Ribeiro de Oliveira, Mauro Martins Lippi, Rodrigo Ryoji Takatani, Wilson de Oliveira
Acute respiratory distress syndrome is characterized by diffuse inflammatory lung injury and is classified as mild, moderate, and severe. Clinically, hypoxemia, bilateral opacities in lung images, and decreased pulmonary compliance are observed. Sepsis is one of the most prevalent causes of this condition (30 - 50%). Among the direct causes of acute respiratory distress syndrome, chlorine inhalation is an uncommon cause, generating mucosal and airway irritation in most cases. We present a case of severe acute respiratory distress syndrome after accidental inhalation of chlorine in a swimming pool, with noninvasive ventilation used as a treatment with good response in this case...
January 2017: Revista Brasileira de Terapia Intensiva
https://www.readbyqxmd.com/read/28444007/prevalence-of-risk-factors-for-noncommunicable-diseases-in-an-indigenous-community-in-santiago-atitl%C3%A3-n-guatemala
#7
David Chen, Álvaro Rivera-Andrade, Jessica González, David Burt, Carlos Mendoza-Montano, James Patrie, Max Luna
Objective: To describe the prevalence of noncommunicable disease (NCD) risk factors and assess knowledge of those risk factors in the indigenous community of Santiago Atitlán in Guatemala, a lower-middle income country. Methods: A population-based, cross-sectional study was conducted using a modified version of the World Health Organization's STEPS protocol. Adults aged 20-65 years were surveyed regarding demographics and NCD risk factors, and the survey was followed by anthropometric and biochemical measurements...
April 20, 2017: Revista Panamericana de Salud Pública, Pan American Journal of Public Health
https://www.readbyqxmd.com/read/28443948/relapse-of-congenital-thrombotic-thrombocytopenic-purpura-after-spontaneous-remission-in-a-second-trimester-primigravida-case-report-and-review-of-the-literature
#8
Donavan de Souza Lúcio, Jacqueline Foelkel Pignatari, Marcelo Gil Cliquet, Henri Augusto Korkes
CONTEXT: Thrombotic microangiopathy syndrome or thrombotic thrombocytopenic purpura-hemolytic uremic syndrome (TTP-HUS) describes distinct diseases sharing common pathological features: microangiopathic hemolytic anemia and thrombocytopenia, without any other apparent cause. CASE REPORT: An 18-year-old second-trimester primigravida presented with a history of fifteen days of intense weakness, followed by diarrhea over the past six days. She reported having had low platelets since childhood, but said that she had never had bleeding or menstrual abnormalities...
April 20, 2017: São Paulo Medical Journal, Revista Paulista de Medicina
https://www.readbyqxmd.com/read/28443804/25-oh-d-levels-in-relation-to-gender-overweight-insulin-resistance-and-inflammation-in-a-cross-sectional-cohort-of-northern-italian-workers-evidence-in-support-of-preventive-health-care-programs
#9
Luisella Vigna, Letizia Cassinelli, Amedea Silvia Tirelli, Irene Felicetta, Filomena Napolitano, Laura Tomaino, Michela Mutti, Claudia Eleonora Barberi, Luciano Riboldi
OBJECTIVE: In recent years, the welfare of workers and the prevention of chronic disabling diseases has become a topic of great interest. This study investigates serum levels of total 25-hydroxyvitamin D (25(OH)D) in a cohort of overweight-obese and insulin-resistant northern Italian indoor workers in apparent good health followed a nutritional education program. METHODS: An observational cross-sectional study on 385 patients (females = 291, males = 94), age range 18-69 years and body mass index (BMI) > 25 kg/m(2), was performed at the Department of Occupational Medicine Milan, Italy, latitude 45...
April 26, 2017: Journal of the American College of Nutrition
https://www.readbyqxmd.com/read/28443262/a-rare-association-of-central-hypothyroidism-and-adrenal-insufficiency-in-a-boy-with-williams-beuren-syndrome
#10
Devi Dayal, Dinesh Giri, Senthil Senniappan
Primary hypothyroidism related to morphological and volumetric abnormalities of the thyroid gland is one of the commonest of several endocrine dysfunctions in Williams-Beuren syndrome (WBS). We report a 10-month-old boy with WBS who presented with central hypothyroidism. During the neonatal period, he had prolonged jaundice, feeding difficulties and episodes of colic that continued during early infancy. Additionally, there was slowing of growth and mild developmental delay. He underwent surgical repair for supravalvular aortic stenosis at 6 months of age...
March 2017: Annals of Pediatric Endocrinology & Metabolism
https://www.readbyqxmd.com/read/28443064/loss-of-vagal-sensitivity-to-cholecystokinin-in-rats-born-with-intrauterine-growth-retardation-and-consequence-on-food-intake
#11
Marième Ndjim, Camille Poinsignon, Patricia Parnet, Gwenola Le Dréan
Perinatal malnutrition is associated with low birth weight and an increased risk of developing metabolic syndrome in adulthood. Modification of food intake (FI) regulation was observed in adult rats born with intrauterine growth retardation induced by maternal dietary protein restriction during gestation and maintained restricted until weaning. Gastrointestinal peptides and particularly cholecystokinin (CCK) play a major role in short-term regulation of FI by relaying digestive signals to the hindbrain via the vagal afferent nerve (VAN)...
2017: Frontiers in Endocrinology
https://www.readbyqxmd.com/read/28443024/low-dose-of-bergamot-derived-polyphenolic-fraction-bpf-did-not-improve-metabolic-parameters-in-second-generation-antipsychotics-treated-patients-results-from-a-60-days-open-label-study
#12
Antonio Bruno, Gianluca Pandolfo, Manuela Crucitti, Massimo Cacciola, Vincenza Santoro, Edoardo Spina, Rocco A Zoccali, Maria R A Muscatello
Objectives: The nutraceutical approach to the management of metabolic syndrome (MetS) might be a promising strategy in the prevention of cardio-metabolic risk. Low-dose bergamot-derived polyphenolic fraction (BPF) has been proven effective in patients with MetS, as demonstrated by a concomitant improvement in lipemic and glycemic profiles. The present study was aimed to further explore, in a sample of subjects receiving second generation antipsychotics (SGAs), the effects on body weight and metabolic parameters of a low dose of BPF (500 mg/day) administered for 60 days...
2017: Frontiers in Pharmacology
https://www.readbyqxmd.com/read/28442665/the-amino-acid-at-position-624-in-the-glycoprotein-of-sftsv-severe-fever-with-thrombocytopenia-virus-plays-a-critical-role-in-low-ph-dependent-cell-fusion-activity
#13
Yoshimi Tsuda, Manabu Igarashi, Ryo Ito, Sanae Nishio, Kenta Shimizu, Kumiko Yoshimatsu, Jiro Arikawa
Severe fever with thrombocytopenia syndrome virus (SFTSV) is a novel phlebovirus responsible for causing an emerging zoonotic disease. We previously established subclones from SFTSV strain YG1 based on differences in low-pH-dependent cell fusion activities and found two amino acid substitutions, Y328H and R624W, in the envelope glycoprotein (GP) of high fusion subclones. In this study, we show that transiently expressed GP with the R624W mutation, but not the Y328H mutation, induced cell fusion under acidic conditions...
2017: Biomedical Research
https://www.readbyqxmd.com/read/28442508/aging-human-body-changes-in-bone-muscle-and-body-fat-with-consequent-changes-in-nutrient-intake
#14
Pegah JafariNasabian, Julia E Inglis, Wendimere Reilly, Owen J Kelly, Jasminka Z Ilich
Aging affects almost all physiological processes, but changes in body composition and body phenotype are most observable. In this review, we focus on these changes, including loss of bone and muscle and increase in body fat or redistribution of the latter, possibly leading to osteosarcopenic obesity syndrome. We also address low-grade chronic inflammation, prevalent in aging adults and a cause of many disorders including those associated with body composition. Changes in dietary intake and nutritional requirements of older individuals, that all may lead to some disturbances on tissue and organ levels, are discussed as well...
April 25, 2017: Journal of Endocrinology
https://www.readbyqxmd.com/read/28442310/copd-osa-overlap-syndrome-evolving-evidence-regarding-epidemiology-clinical-consequences-and-management
#15
REVIEW
Walter T McNicholas
Chronic obstructive pulmonary disease (COPD) and obstructive sleep apnea syndrome (OSA) are both highly prevalent, which implies that both disorders occurring together (overlap syndrome) is likely to be common based on chance association alone. However, different clinical COPD phenotypes influence the likelihood of co-existing OSA in that the increased lung volumes and low body mass index (BMI) associated with the predominant emphysema phenotype protects against OSA, whereas the higher likelihood of peripheral edema and increased BMI associated with the predominant chronic bronchitis phenotype promotes OSA...
April 22, 2017: Chest
https://www.readbyqxmd.com/read/28441461/sliding-scale-hcg-trigger-yields-equivalent-pregnancy-outcomes-and-reduces-ovarian-hyperstimulation-syndrome-analysis-of-10-427-ivf-icsi-cycles
#16
Vinay Gunnala, Alexis Melnick, Mohamad Irani, David Reichman, Glenn Schattman, Owen Davis, Zev Rosenwaks
OBJECTIVE: To evaluate pregnancy outcomes and the incidence of ovarian hyperstimulation syndrome (OHSS) using a sliding scale hCG protocol to trigger oocyte maturity and establish a threshold level of serum b-hCG associated with optimal oocyte maturity. DESIGN: Retrospective cohort. SETTING: Academic medical center. PATIENTS: Fresh IVF cycles from 9/2004-12/2011. INTERVENTION: 10,427 fresh IVF-ICSI cycles met inclusion criteria...
2017: PloS One
https://www.readbyqxmd.com/read/28441233/acute-respiratory-distress-syndrome-due-to-tuberculosis-in-a-respiratory-icu-over-a-16-year-period
#17
Valliappan Muthu, Sahajal Dhooria, Ashutosh N Aggarwal, Digambar Behera, Inderpaul Singh Sehgal, Ritesh Agarwal
OBJECTIVE: Whether tuberculosis-related acute respiratory distress syndrome is associated with worse outcomes when compared with acute respiratory distress syndrome secondary to other causes remains unknown. Herein, we compare the outcomes between the two groups. DESIGN: Retrospective analysis of all subjects admitted with acute respiratory distress syndrome over the last 16 years. SETTING: Respiratory ICU of a tertiary care hospital in North India...
April 22, 2017: Critical Care Medicine
https://www.readbyqxmd.com/read/28441232/atriobronchial-fistula-complicated-by-septic-cerebral-air-emboli-after-pulmonary-vein-ablation
#18
David Velghe, Thomas Apers, Stefanie Devriendt, Ivo Deblier, Bart Hendriks, Rogier Nieuwendijk, Peter Rogiers
OBJECTIVE: To describe a case of an infected atriobronchial fistula as a late complication after pulmonary vein ablation, leading to septic air emboli and requiring urgent cardiac surgery. DATA SOURCES: Clinical observation. STUDY SELECTION: Case report. DATA EXTRACTION: Relevant clinical information. PubMed was searched for relevant literature. DATA SYNTHESIS: Given its high success and low complication rate, pulmonary vein isolation is expected to be increasingly performed worldwide...
April 22, 2017: Critical Care Medicine
https://www.readbyqxmd.com/read/28441156/interpreting-lipoproteins-in-nonalcoholic-fatty-liver-disease
#19
Katriina Nemes, Fredrik Åberg
PURPOSE OF REVIEW: The pathophysiologies of nonalcoholic fatty liver disease (NAFLD), metabolic syndrome, and cardiovascular disease are closely interlinked and associated with atherogenic dyslipidemia. Liver and cardiovascular disease may silently progress to advanced stages if alarming signs, such as abdominal obesity, elevated fasting and postprandial triglycerides, and low HDL cholesterol are overlooked. We review the metabolic mechanisms in NAFLD at the cellular level in the context of standard clinical lipid measurements...
April 22, 2017: Current Opinion in Lipidology
https://www.readbyqxmd.com/read/28440985/-early-neonatal-sepsis-and-associated-factors
#20
Roberto Anaya-Prado, Cuauhtémoc Valero-Padilla, Augusto Sarralde-Delgado, Jorge Manuel Sánchez-González
BACKGROUND: Early-onset neonatal sepsis (EONS) is an infectious disease of low incidence but high morbidity and mortality with severe consequences to the newborn prognosis. Identifying the associated factors related to EONS allows to start a timely treatment and to take preventive measures. METHODS: In this case and controls study we identified all the newborns (NB) with and without EONS (cases and controls), diagnosed through blood culture in a period of three years...
May 2017: Revista Médica del Instituto Mexicano del Seguro Social
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