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Lowe Syndrome

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https://www.readbyqxmd.com/read/28550082/primary-membranous-nephropathy
#1
William G Couser
Membranous nephropathy (MN) is a unique glomerular lesion that is the most common cause of idiopathic nephrotic syndrome in nondiabetic white adults. About 80% of cases are renal limited (primary MN, PMN) and 20% are associated with other systemic diseases or exposures (secondary MN). This review focuses only on PMN. Most cases of PMN have circulating IgG4 autoantibody to the podocyte membrane antigen PLA2R (70%), biopsy evidence PLA2R staining indicating recent immunologic disease activity despite negative serum antibody levels (15%), or serum anti-THSD7A (3%-5%)...
May 26, 2017: Clinical Journal of the American Society of Nephrology: CJASN
https://www.readbyqxmd.com/read/28549589/serum-retinol-levels-and-neonatal-outcomes-in-preterm-infants
#2
Hsing-Jin Chen, Chyong-Hsin Hsu, Bor-Luen Chiang
BACKGROUND: Glucocorticoids are frequently administered to preterm infants, both antenatally and postnatally; however, the effect on serum retinol levels has not been determined. The risk of bronchopulmonary dysplasia is increased in premature infants with low retinol concentrations. OBJECTIVES: Our purpose was to determine the effect of glucocorticoid administration on serum retinol levels in preterm infants. METHODS: All infants <1250 g or <29 weeks' gestation admitted to the neonatal intensive care unit within 48 h of birth were eligible for inclusion...
May 23, 2017: Journal of the Formosan Medical Association, Taiwan Yi Zhi
https://www.readbyqxmd.com/read/28548894/switching-from-an-oral-dopamine-receptor-agonist-to-rotigotine-transdermal-patch-a-review-of-clinical-data-with-a-focus-on-patient-perspective
#3
Sun Ju Chung, Mahnaz Asgharnejad, Lars Bauer, Arturo Benitez, Babak Boroojerdi, Tanja Heidbrede, Allison Little, Han Joon Kim
Dopamine receptor agonists (DAs) are commonly used to treat Parkinson's disease (PD) and restless legs syndrome (RLS). In certain situations, switching from oral DAs to rotigotine transdermal patch may be beneficial for the patient (e.g., optimal symptom control/side effects/perioperative management, preference for once-daily/non-oral administration, RLS augmentation treatment). Areas covered: This narrative review summarizes available data on DA dose equivalency, dose conversions, switching schedules, safety, tolerability, efficacy and patient treatment preferences of switching from oral DAs to rotigotine (and vice versa) in patients with PD/RLS...
May 26, 2017: Expert Review of Neurotherapeutics
https://www.readbyqxmd.com/read/28547746/the-support-needs-of-parents-having-a-child-with-a-chronic-kidney-disease-a-focus-group-study
#4
W W Geense, B G I van Gaal, J L Knoll, E A M Cornelissen, T van Achterberg
BACKGROUND: Parents of children with a chronic kidney disease (CKD) have a crucial role in the management of their child's disease. The burden on parents is high: they are often exhausted, depressed and experience high levels of stress and a low quality of life, which could have a negative impact on their child's health outcomes. Support aiming at preventing and reducing parental stress is essential. Therefore, it is necessary to have insight in the problems and support needs among these parents...
May 25, 2017: Child: Care, Health and Development
https://www.readbyqxmd.com/read/28546937/ocular-manifestation-and-their-associated-factors-among-hiv-aids-patients-receiving-highly-active-antiretroviral-therapy-in-southern-ethiopia
#5
Anteneh Amsalu, Kindie Desta, Demiss Nigussie, Demoze Delelegne
AIM: To assess the pattern of ocular manifestation and associated factors among human immunodeficiency virus (HIV)/acquired immunodeficiency syndrome (AIDS) patients on highly active antiretroviral therapy (HAART) at Hawassa University Referral Hospital, Southern Ethiopia. METHODS: A cross sectional study was conducted from January 2014 to April 2015. After obtaining informed written consent, 240 adult HIV/AIDS patients on HAART were randomly selected regardless of their ophthalmic symptoms, WHO status or CD4 count...
2017: International Journal of Ophthalmology
https://www.readbyqxmd.com/read/28546815/role-of-statin-drugs-for-polycystic-ovary-syndrome
#6
REVIEW
Lisa Cassidy-Vu, Edwina Joe, Julienne K Kirk
Objective: To review the potential role and specific impact of statin drugs in women with PCOS. The evidence for this use of statins in PCOS is limited and still under further investigation. Materials and methods: A search was conducted using PubMed, DynaMed and PubMedHealth databases through October 16, 2016 using the terms polycystic ovary syndrome, PCOS, hydroxymethylglutaryl-CoA reductase inhibitors, hydroxymethylglutaryl-CoA, statin, atorvastatin, fluvastatin, lovastatin, pitavastatin, pravastatin, rosuvastatin and simvastatin...
December 2016: Journal of Family & Reproductive Health
https://www.readbyqxmd.com/read/28546543/metabolic-profiling-of-polycystic-ovary-syndrome-reveals-interactions-with-abdominal-obesity
#7
Alexessander Couto Alves, Beatriz Valcarcel, Ville-Petteri Mäkinen, Laure Morin-Papunen, Sylvain Sebert, Antti J Kangas, Pasi Soininen, Shikta Das, Maria De Iorio, Lachlan Coin, Mika Ala-Korpela, Marjo-Riitta Järvelin, Stephen Franks
BACKGROUND: Polycystic ovary syndrome (PCOS) is a common reproductive disorder associated with metabolic disturbances including obesity, insulin resistance, and diabetes mellitus. Here we investigate whether changes in the metabolic profile of PCOS women are driven by increased tendency to obesity or are specific features of PCOS related to increased testosterone levels. DESIGN AND METHODS: We conducted an NMR metabolomics association study of PCOS cases (n=145) and controls (n=687) nested in a population-based birth cohort (n=3,127)...
May 26, 2017: International Journal of Obesity: Journal of the International Association for the Study of Obesity
https://www.readbyqxmd.com/read/28545910/thyroid-function-test-in-diabetic-ketoacidosis
#8
Amir Ahmad Mirboluk, Farzaneh Rohani, Ramin Asadi, Mohammad Reza Eslamian
BACKGROUND: Metabolism of thyroid hormones is influenced by acute systemic illnesses including diabetic ketoacidosis. In these cases T3 level is usually decreased and this condition is called "low T3 syndrome" which is usually reversed by treating the under lying Disease. OBJECTIVES: thyroid function test analysis before and after diabetic ketoacidosis treatment. METHOD: In this cross sectional study thyroid function tests were analyzed in 16 diabetic ketoacidosis patients according to American diabetic association before and after insulin therapy...
April 15, 2017: Diabetes & Metabolic Syndrome
https://www.readbyqxmd.com/read/28545589/gastrointestinal-tolerance-of-low-fodmap-oral-nutrition-supplements-in-healthy-human-subjects-a-randomized-controlled-trial
#9
Jennifer Erickson, Renee Korczak, Qi Wang, Joanne Slavin
BACKGROUND: There has been increasing interest in utilizing a diet low in fermentable oligosaccharides, disaccharides, monosaccharides and polyols (FODMAPs) for the treatment of irritable bowel syndrome (IBS), a functional gastrointestinal disease. While studies have indicated that this diet can be effective at symptom reduction, it is a restrictive diet and patients may find it challenging to find low FODMAP products to meet their nutrient needs. The primary objective of this study was to assess the gastrointestinal (GI) tolerance of three low FODMAP oral nutrition supplements (ONS) in healthy adults...
May 25, 2017: Nutrition Journal
https://www.readbyqxmd.com/read/28545508/open-label-versus-double-blind-placebo-treatment-in-irritable-bowel-syndrome-study-protocol-for-a-randomized-controlled-trial
#10
Sarah Ballou, Ted J Kaptchuk, William Hirsch, Judy Nee, Johanna Iturrino, Kathryn T Hall, John M Kelley, Vivian Cheng, Irving Kirsch, Eric Jacobson, Lisa Conboy, Anthony Lembo, Roger B Davis
BACKGROUND: Placebo medications, by definition, are composed of inactive ingredients that have no physiological effect on symptoms. Nonetheless, administration of placebo in randomized controlled trials (RCTs) and in clinical settings has been demonstrated to have significant impact on many physical and psychological complaints. Until recently, conventional wisdom has suggested that patients must believe that placebo pills actually contain (or, at least, might possibly contain) active medication in order to elicit a response to placebo...
May 25, 2017: Trials
https://www.readbyqxmd.com/read/28545486/depression-in-patients-with-sapho-syndrome-and-its-relationship-with-brain-activity-and-connectivity
#11
Jie Lu, Yanping Duan, Zhentao Zuo, Wenrui Xu, Xuewei Zhang, Chen Li, Rong Xue, Hanzhang Lu, Weihong Zhang
BACKGROUND: Synovitis-acne-pustulosis-hyperostosis-osteitis (SAPHO) syndrome is a rare disease and there is no related literature concerning psychiatric symptoms in SAPHO patients. Thus, we believe that this will be the first paper to explore the episode and the neurobiological basis of depression symptoms in SAPHO patients using resting state functional magnetic resonance imaging (rs-fMRI). Twenty-eight SAPHO patients and fifteen age- and gender- matched normal controls (NC) were consecutively submitted to psychiatric evaluation and rs-fMRI scanning...
May 25, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28545408/importance-of-correctly-interpreting-magnetic-resonance-imaging-to-diagnose-posterior-reversible-encephalopathy-syndrome-associated-with-hellp-syndrome-a-case-report
#12
Syuichi Tetsuka, Hiroaki Nonaka
BACKGROUND: Severe haemolysis, elevated liver enzyme levels, and low platelet count (HELLP) syndrome in pregnancy are possible underlying trigger factors for posterior reversible encephalopathy syndrome (PRES). Magnetic resonance imaging (MRI) shows diffuse signal abnormalities involving the subcortical white matter in the parieto-occipital lobes. Although the diagnosis of RPES was clearly established by the distinctive reversibility of clinical and radiological abnormalities, it is difficult to distinguish from differential diagnosis...
May 25, 2017: BMC Medical Imaging
https://www.readbyqxmd.com/read/28545089/the-dynamic-behaviour-of-metabolic-syndrome-and-its-components-in-an-eight-year-population-based-cohort-from-the-mediterranean
#13
Maria A Barceló, Antonio Rodríguez-Poncelas, Marc Saez, Gabriel Coll-de-Tuero
BACKGROUND: The significant rise in the prevalence of obesity coincides with the considerable increase in the prevalence of metabolic syndrome (MS) currently being observed worldwide. The components of MS are not static and their dynamics, such as the order of their occurrence, or the time of exposure to them are, as yet, unknown but could well be clinically relevant. Our objective was to study the dynamic behaviour of MS and its components in a large population-based cohort from a Mediterranean region...
2017: PloS One
https://www.readbyqxmd.com/read/28544831/aortic-root-surgery-in-marfan-syndrome-medium-term-outcome-in-a-single-center-experience
#14
Christine H Attenhofer Jost, Heidi M Connolly, Christopher G Scott, Naser M Ammash, Juan M Bowen, Hartzell V Schaff
BACKGROUND: The study aim was to analyze the authors' experience with aortic root surgery in Marfan syndrome (MFS), and to expand the surgical outcome data of patients meeting the Ghent criteria (Marfan registry). METHODS: Analyses were performed of data acquired from MFS patients (who met the Ghent criteria), including an aortic root surgery and Kaplan-Meier survival. RESULTS: Between April 2004 and February 2012, a total of 59 MFS patients (mean age at surgery 36 ± 13 years) underwent 67 operations for aortic root aneurysm (n = 52), aortic valve (AV) regurgitation (n = 15), acute aortic dissection (n = 2), and/or mitral valve (MV) regurgitation resulting from MV prolapse (n = 7)...
January 2017: Journal of Heart Valve Disease
https://www.readbyqxmd.com/read/28544753/no-association-between-metabolic-syndrome-and-radiographic-hand-osteoarthritis-data-from-the-framingham-study
#15
Mette P Strand, Tuhina Neogi, Jingbo Niu, David T Felson, Ida K Haugen
OBJECTIVE: To explore whether metabolic syndrome (MetS) and its components are associated with hand OA using longitudinal data from the Framingham study. METHODS: In our cross-sectional analyses we included 1089 persons (age 50-75 years), of whom 785 had 7-year longitudinal radiographs. Of these, 586 with no hand OA at baseline were included in analyses on hand OA incidence. We explored associations between and MetS and its components (central obesity, hypertension, diabetes, triglyceridemia, low high-density lipoprotein) and radiographic hand OA (defined as ≥2 interphalangeal joints with Kellgren-Lawrence grade≥2) using logistic regression analyses with adjustment for age, sex and body mass index (BMI)...
May 23, 2017: Arthritis Care & Research
https://www.readbyqxmd.com/read/28544699/renal-anomalies-and-lymphedema-distichiasis-syndrome-a-rare-association
#16
Gabriela E Jones, Anna K Richmond, Osric Navti, Hatem A Mousa, Stephen Abbs, Edward Thompson, Sahar Mansour, Pradeep C Vasudevan
Lymphedema distichiasis syndrome (LDS) is a rare, autosomal dominant genetic condition, characterized by lower limb lymphedema and distichiasis. Other associated features that have been reported include varicose veins, cleft palate, congenital heart defects, and ptosis. We update a previously reported family with a pathogenic variant in FOXC2 (c.412-413insT) where five affected individuals from the youngest generation had congenital renal anomalies detected on prenatal ultrasound scan. These included four fetuses with hydronephrosis and one with bilateral renal agenesis...
May 23, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28543953/improved-technical-success-postnatal-outcomes-and-refined-predictors-of-outcome-for-fetal-aortic-valvuloplasty
#17
Kevin G Friedman, Lynn A Sleeper, Lindsay R Freud, Audrey C Marshall, Max E Godfrey, Monika Drogosz, Terra Lafranchi, Carol B Benson, Louise E Wilkins-Haug, Wayne Tworetzky
BACKGROUND: Fetal aortic valvuloplasty (FAV) may prevent progression of mid-gestation aortic stenosis (AS) to hypoplastic left heart syndrome (HLHS). METHODS: We evaluate outcomes in 123 fetuses that underwent FAV between 2000 and 2015. We analyze whether technical success and biventricular (Biv) outcome changed from the early era (2000-08) to a more recent era (2009-15) and identify pre-FAV predictors of Biv outcome. We developed CART models to predict the likelihood of Biv outcome...
May 22, 2017: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28543186/clinical-biochemical-and-genetic-aspects-of-sj%C3%A3-gren-larsson-syndrome
#18
REVIEW
Kye Hee Cho, Sung Han Shim, MinYoung Kim
Sjögren-Larsson syndrome (SLS) is caused by an autosomal recessive mutation in ALDH3A2, which encodes the fatty aldehyde dehydrogenase responsible for the metabolism of long-chain aliphatic aldehydes and alcohols. The pathophysiologic accumulation of aldehydes in various organs, including the skin, brain, and eyes, leads to characteristic features of ichthyosis, intellectual disability, spastic di-/quadriplegia, and low visual acuity with photophobia. The severity of the clinical manifestations thereof can vary greatly, although most patients are bound to a wheelchair due to contractures...
May 23, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28542914/efficacy-and-adverse-events-of-oral-isotretinoin-for-acne-a-systematic-review
#19
REVIEW
I A Vallerand, R T Lewinson, M S Farris, C D Sibley, M L Ramien, A G M Bulloch, S B Patten
Despite many years of clinical use of isotretinoin, a comprehensive review of evidence for isotretinoin therapy in acne patients is lacking. We searched MEDLINE, EMBASE, Cochrane Central, relevant webpages and bibliographies for randomized controlled trials for acne evaluating isotretinoin vs control (placebo or other therapy). Data were extracted and summarized descriptively. Eleven trials were identified (total n=760 patients randomized), containing mostly males. Mean treatment ages ranged from 18 to 47.9 years and participants generally had moderate-severe acne...
May 19, 2017: British Journal of Dermatology
https://www.readbyqxmd.com/read/28542663/-periorbital-pallor-post-application-of-mydriatic-in-infants-with-hydrocephalus-associated-to-systemic-effects
#20
Jorge Luis Alvarado Socarras, Sandra Consuelo Rodríguez
Adequate pupil dilation is needed to evaluate some neonates at risk of developing illness during this stage. However, this procedure is not free of adverse effects, either local or systemic. One of these complications is the local vasoconstriction of the preterm baby’s skin following the application of mydriatic eye drops. OBJECTIVE: To describe secondary local and systemic complications of pharmacological pupil dilation in 2 newborns. Clinical case 1: Full term baby with diagnosis of low-birth weight and hydrocephalia...
April 2017: Revista Chilena de Pediatría
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