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Lowe Syndrome

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https://www.readbyqxmd.com/read/28107429/deficient-cholesterol-esterification-in-plasma-of-apoc2-knockout-zebrafish-and-familial-chylomicronemia-patients
#1
Chao Liu, Daniel Gaudet, Yury I Miller
Hypertriglyceridemia is an independent risk factor for cardiovascular disease. Apolipoprotein C-II (APOC2) is an obligatory cofactor for lipoprotein lipase (LPL), the major enzyme catalyzing plasma triglyceride hydrolysis. We have created an apoc2 knockout zebrafish model, which mimics the familial chylomicronemia syndrome (FCS) in human patients with a defect in the APOC2 or LPL gene. In this study, we measured plasma levels of free cholesterol (FC) and cholesterol esters (CE) and found that apoc2 mutant zebrafish have a significantly higher FC to CE ratio (FC/CE), when compared to the wild type...
2017: PloS One
https://www.readbyqxmd.com/read/28107412/nasal-carriage-of-staphylococcus-aureus-among-children-in-the-ashanti-region-of-ghana
#2
Daniel Eibach, Michael Nagel, Benedikt Hogan, Clinton Azuure, Ralf Krumkamp, Denise Dekker, Mike Gajdiss, Melanie Brunke, Nimako Sarpong, Ellis Owusu-Dabo, Jürgen May
BACKGROUND: Nasal carriage with Staphylococcus aureus is a common risk factor for invasive infections, indicating the necessity to monitor prevalent strains, particularly in the vulnerable paediatric population. This surveillance study aims to identify carriage rates, subtypes, antimicrobial susceptibilities and virulence markers of nasal S. aureus isolates collected from children living in the Ashanti region of Ghana. METHODS: Nasal swabs were obtained from children < 15 years of age on admission to the Agogo Presbyterian Hospital between April 2014 and January 2015...
2017: PloS One
https://www.readbyqxmd.com/read/28107310/the-renin-inhibitor-aliskiren-protects-rat-lungs-from-the-histopathologic-effects-of-fat-embolism
#3
Amanda N Fletcher, Agostino Molteni, Rakesh Ponnapureddy, Chirag Patel, Mark Pluym, Alan M Poisner
BACKGROUND: Fat embolism (FE) and the consequent FE syndrome occurring after trauma or surgery can lead to serious pulmonary injury, including ARDS and death. Current treatment of FE syndrome is limited to supportive therapy. We have shown in a rat model that the renin angiotensin system plays a significant role in the pathophysiology of FE because drugs interfering with the renin angiotensin system, captopril and losartan reduce the histopathologic pulmonary damage. The purpose of the current study was to determine if inhibition of renin by aliskiren, an FDA-approved drug for treating hypertension, would produce effective protection in the same model...
February 2017: Journal of Trauma and Acute Care Surgery
https://www.readbyqxmd.com/read/28106904/planned-early-delivery-versus-expectant-management-for-hypertensive-disorders-from-34-weeks-gestation-to-term
#4
REVIEW
Catherine Cluver, Natalia Novikova, Corine M Koopmans, Helen M West
BACKGROUND: Hypertensive disorders in pregnancy are significant contributors to maternal and perinatal morbidity and mortality. These disorders include well-controlled chronic hypertension, gestational hypertension (pregnancy-induced hypertension) and mild pre-eclampsia. The definitive treatment for these disorders is planned early delivery and the alternative is to manage the pregnancy expectantly if severe uncontrolled hypertension is not present, with close maternal and fetal monitoring...
January 15, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28106318/reduced-laser-evoked-potential-habituation-detects-abnormal-central-pain-processing-in-painful-radiculopathy-patients
#5
P Hüllemann, C von der Brelie, G Manthey, J Düsterhöft, A K Helmers, M Synowitz, R Baron
BACKGROUND: Repetitive painful laser stimuli lead to physiological laser-evoked potential (LEP) habituation, measurable by a decrement of the N2/P2 amplitude. The time course of LEP-habituation is reduced in the capsaicin model for peripheral and central sensitization and in patients with migraine and fibromyalgia. In the present investigation, we aimed to assess the time course of LEP-habituation in a neuropathic pain syndrome, i.e. painful radiculopathy. METHODS: At the side of radiating pain, four blocks of 25 painful laser stimuli each were applied to the ventral thigh at the L3 dermatome in 27 patients with painful radiculopathy...
January 20, 2017: European Journal of Pain: EJP
https://www.readbyqxmd.com/read/28106253/massive-plasmablast-response-elicited-in-the-acute-phase-of-hantavirus-pulmonary-syndrome
#6
Marina García, Ayelén Iglesias, Verónica I Landoni, Carla Bellomo, Agostina Bruno, María Teresa Córdoba, Luciana Balboa, Gabriela C Fernández, María Del Carmen Sasiain, Valeria P Martínez, Pablo Schierloh
Beside its key diagnostic value, the humoral immune response is thought to play a protective role in Hantavirus Pulmonary Syndrome (HPS). However, little is known about the cell source of these antibodies during ongoing human infection. Herein we characterized B cell subsets circulating in Andes virus-infected patients. A notable potent plasmablast (PB) response that increased 100-fold over the baseline levels was observed around one week after the onset of symptoms. These PB present a CD3(neg) CD19(low) CD20(neg) CD38(hi) CD27(hi) CD138(+/-) IgA(+/-) surface phenotype together with the presence of cytoplasmic functional immunoglobulins...
January 20, 2017: Immunology
https://www.readbyqxmd.com/read/28106060/brain-microvasculature-defects-and-glut1-deficiency-syndrome-averted-by-early-repletion-of-the-glucose-transporter-1-protein
#7
Maoxue Tang, Guangping Gao, Carlos B Rueda, Hang Yu, David N Thibodeaux, Tomoyuki Awano, Kristin M Engelstad, Maria-Jose Sanchez-Quintero, Hong Yang, Fanghua Li, Huapeng Li, Qin Su, Kara E Shetler, Lynne Jones, Ryan Seo, Jonathan McConathy, Elizabeth M Hillman, Jeffrey L Noebels, Darryl C De Vivo, Umrao R Monani
Haploinsufficiency of the SLC2A1 gene and paucity of its translated product, the glucose transporter-1 (Glut1) protein, disrupt brain function and cause the neurodevelopmental disorder, Glut1 deficiency syndrome (Glut1 DS). There is little to suggest how reduced Glut1 causes cognitive dysfunction and no optimal treatment for Glut1 DS. We used model mice to demonstrate that low Glut1 protein arrests cerebral angiogenesis, resulting in a profound diminution of the brain microvasculature without compromising the blood-brain barrier...
January 20, 2017: Nature Communications
https://www.readbyqxmd.com/read/28105747/virulence-and-genotypes-of-white-spot-syndrome-virus-infecting-pacific-white-shrimp-litopenaeus-vannamei-in-north-western-mexico
#8
J Ramos-Paredes, J M Grijalva-Chon, J C Ibarra-Gámez
White spot syndrome virus (WSSV) has caused substantial global economic impact on aquaculture, and it has been determined that strains can vary in virulence. In this study, the effect of viral load was evaluated by infecting Litopenaeus vannamei with 10-fold serial dilution of tissue infected with strain WSSV Mx-H, and the virulence of four WSSV strains from north-western Mexico was assessed along with their variable number of tandem repeat (VNTR) genotypes in ORF75, ORF94 and ORF125. The LD50 of the Mx-H strain was a dilution dose of 10(-7...
January 20, 2017: Journal of Fish Diseases
https://www.readbyqxmd.com/read/28105733/vitamin-d-supplementation-for-sickle-cell-disease
#9
REVIEW
Htoo Htoo Kyaw Soe, Adinegara Bl Abas, Nan Nitra Than, Han Ni, Jaspal Singh, Abdul Razzak Bin Mohd Said, Ifeyinwa Osunkwo
BACKGROUND: Sickle cell disease is a genetic chronic haemolytic and pro-inflammatory disorder. The clinical manifestations of sickle cell disease result from the presence of mutations on the beta globin genes that generate an abnormal haemoglobin product (called haemoglobin S) within the red blood cell. Sickle cell disease can lead to many complications such as acute chest syndrome, stroke, acute and chronic bone complications (including painful vaso-occlusive crisis, osteomyelitis, osteonecrosis and osteoporosis)...
January 20, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28104732/iatrogenic-cushing-s-syndrome-due-to-topical-ocular-glucocorticoid-treatment
#10
Daisuke Fukuhara, Toshihiko Takiura, Hiroshi Keino, Annabelle A Okada, Kunimasa Yan
Iatrogenic Cushing's syndrome (CS) is a severe adverse effect of systemic glucocorticoid (GC) therapy in children, but is extremely rare in the setting of topical ocular GC therapy. In this article, we report the case of a 9-year-old girl suffering from idiopathic uveitis who developed CS due to topical ocular GC treatment. She was referred to the ophthalmology department with a complaint of painful eyes, at which time she was diagnosed with bilateral iridocyclitis and started on a treatment of betamethasone sodium phosphate eye drops...
January 19, 2017: Pediatrics
https://www.readbyqxmd.com/read/28104514/increased-foxp3-helios-regulatory-t-cells-and-decreased-acute-graft-versus-host-disease-after-allogeneic-bone-marrow-transplantation-in-patients-receiving-sirolimus-and-rgi-2001-an-activator-of-invariant-natural-killer-t-cells
#11
Yi-Bin Chen, Yvonne A Efebera, Laura Johnston, Edward D Ball, David Avigan, Lazaros J Lekakis, Carlos R Bachier, Paul Martin, Omar Duramad, Yasuyuki Ishii, Semi Han, Yu-Jin Jung, Dana Lee, Lori Kunkel, Robert S Negrin, Jack D Bui
Regulatory T (Treg) cells play a central role in immune tolerance and prevention of aberrant immune responses. Several studies have suggested that the risk of GVHD after allogeneic hematopoietic cell transplantation (HCT) can be ameliorated by increasing Tregs. We have developed an approach of in vivo expansion of Tregs with RGI-2001, a novel liposomal formulation of a synthetic derivative of alpha-galactosylceramide, a naturally occurring ligand that binds to CD1 and activates and expands invariant natural killer cells...
January 16, 2017: Biology of Blood and Marrow Transplantation
https://www.readbyqxmd.com/read/28104464/genetic-defects-in-pi3k%C3%AE-affect-b-cell-differentiation-and-maturation-leading-to-hypogammaglobulineamia-and-recurrent-infections
#12
Marjolein Wentink, Virgil Dalm, Arjan C Lankester, Pauline A van Schouwenburg, Liesbeth Schölvinck, Tomas Kalina, Radana Zachova, Anna Sediva, Annechien Lambeck, Ingrid Pico-Knijnenburg, Jacques J M van Dongen, Malgorzata Pac, Ewa Bernatowska, Martin van Hagen, Gertjan Driessen, Mirjam van der Burg
BACKGROUND: Mutations in PIK3CD and PIK3R1 cause activated PI3K-δ syndrome (APDS) by dysregulation of the PI3K-AKT pathway. METHODS: We studied precursor and peripheral B-cell differentiation and apoptosis via flowcytometry. Furthermore, we performed AKT-phosphorylation assays and somatic hypermutations (SHM) and class switch recombination (CSR) analysis. RESULTS: We identified 13 patients of whom 3 had new mutations in PIK3CD or PIK3R1. Patients had low total B-cell numbers with increased frequencies of transitional B cells and plasmablasts, while the precursor B-cell compartment in bone marrow was relatively normal...
January 16, 2017: Clinical Immunology: the Official Journal of the Clinical Immunology Society
https://www.readbyqxmd.com/read/28104121/liver-failure-from-ultra-short-bowel-syndrome-on-the-intestinal-transplant-waiting-list-a-retrospective-study
#13
Y Noguchi, T Ueno, R Matsuura, T Kodama, K Deguchi, S Umeda, T Yamamichi, K Nakahata, M Zenitani, Y Takama, H Yamanaka, Y Tazuke, H Okuyama
BACKGROUND: Patients with intestinal failure (IF) are candidates for intestinal transplantation (ITx). In Japan, these patients have few opportunities to undergo cadaveric ITx because of low rates of organ donation. The donor criteria and recipient priority for ITx are still unknown. We reviewed our cases of IF to investigate which patients should be prioritized for ITx. METHODS: Patients with IF who were registered as candidates for cadaveric ITx between January 2010 and November 2015 in our institute were included in this retrospective study...
January 2017: Transplantation Proceedings
https://www.readbyqxmd.com/read/28104063/sleep-duration-of-inpatients-with-a-depressive-disorder-associations-with-age-subjective-sleep-quality-and-cognitive-complaints
#14
Matthias J Müller, Christiane Olschinski, Bernd Kundermann, Nicole Cabanel
Sleep complaints and sleep disturbances are common in depression; however, the association of sleep duration and subjective sleep quality has been rarely investigated. Thus, subjective sleep quality and sleep duration were analyzed in depressed inpatients. Questionnaire data comprising clinical and sleep-related questions were sampled over a one-year period from adult inpatients with depressive syndromes. Sleep duration and items related to sleep quality were analyzed by means of group comparisons (sleep duration categories) and correlation analyses...
February 2017: Archives of Psychiatric Nursing
https://www.readbyqxmd.com/read/28103457/-congenital-heart-disease-in-children-with-down-syndrome-what-has-changed-in-the-last-three-decades
#15
Filipa Mestre Dias, Susana Cordeiro, Isabel Menezes, Graça Nogueira, Ana Teixeira, Marta Marques, Miguel Abecasis, Rui Anjos
INTRODUCTION: The prevalence of Down syndrome has increased in the last 30 years; 55% of these children have congenital heart disease. MATERIAL AND METHODS: A retrospective longitudinal cohort study; clinical data from 1982 to 2013 databases with the diagnosis of Down syndrome or trisomy 21 in a reference hospital in pediatric cardiology and cardiac surgery. OBJECTIVE: to assess the progress in the last three decades of cardiological care given to children with Down syndrome and congenital heart disease...
October 2016: Acta Médica Portuguesa
https://www.readbyqxmd.com/read/28103448/bedside-contribution-of-electrical-impedance-tomography-to-set-positive-end-expiratory-pressure-for-ecmo-treated-severe-ards-patients
#16
Guillaume Franchineau, Nicolas Bréchot, Guillaume Lebreton, Guillaume Hekimian, Ania Nieszkowska, Jean-Louis Trouillet, Pascal Leprince, Jean Chastre, Charles-Edouard Luyt, Alain Combes, Matthieu Schmidt
RATIONALE: Optimal positive end-expiratory pressure (PEEP) is unknown in severe acute respiratory distress syndrome (ARDS) patients on extracorporeal membrane oxygenation (ECMO) receiving mechanical ventilation with very low tidal volume. OBJECTIVES: To evaluate electrical impedance tomography's (EIT) ability to monitor a PEEP trial and to derive from EIT the best compromise PEEP in this setting. METHODS: A decremental PEEP trial (20-0 cmH2O) in 5 cmH2O steps was monitored by EIT, with lung images divided into four ventral-to-dorsal horizontal regions of interest...
January 19, 2017: American Journal of Respiratory and Critical Care Medicine
https://www.readbyqxmd.com/read/28103297/obesity-in-french-inmates-gender-differences-and-relationship-with-mood-eating-behavior-and-physical-activity
#17
Aude Lagarrigue, Soufiane Ajana, Lucile Capuron, Catherine Féart, Marie-Pierre Moisan
CONTEXT: Inmates, notably women, are at greater risk for obesity and metabolic complications than the general population according to several studies from high income countries. Data regarding French correctional institutions are lacking so far. To fill this gap, we have assessed in a sample from a French prison (33 females and 18 males) the gender-specific effect of incarceration on weight and body mass index (BMI) and examined their current metabolic status. Furthermore, to reveal the possible determinants of increased obesity, we analyzed emotional vulnerability, eating behavior and physical activity using self-reported questionnaires...
2017: PloS One
https://www.readbyqxmd.com/read/28102548/the-shade-avoidance-syndrome-multiple-signals-and-ecological-consequences
#18
REVIEW
Carlos L Ballaré, Ronald Pierik
Plants use photoreceptor proteins to detect the proximity of other plants and to activate adaptive responses. Of these photoreceptors, phytochrome B (phyB), which is sensitive to changes in the red (R) to far-red (FR) ratio of sunlight, is the one that has been studied in greatest detail. The molecular connections between the proximity signal (low R:FR) and a model physiological response (increased elongation growth) have now been mapped in considerable detail in Arabidopsis seedlings. We briefly review our current understanding of these connections, and discuss recent progress in establishing the roles of other photoreceptors in regulating growth-related pathways in response to competition cues...
January 19, 2017: Plant, Cell & Environment
https://www.readbyqxmd.com/read/28102505/maternal-characteristics-and-incidence-of-overweight-obesity-in-children-a-13-year-follow-up-study-in-an-eastern-mediterranean-population
#19
Sara Jalali-Farahani, Parisa Amiri, Behnood Abbasi, Mehrdad Karimi, Leila Cheraghi, Maryam Sadat Daneshpour, Fereidoun Azizi
Objectives To investigate clustering of parental sociobehavioral factors and their relationship with the incidence of overweight and obesity in Iranian children. Methods Demographics, body weight, and certain medical characteristics of the parents of 2999 children were used to categorize parents by cluster; children's weights were assessed for each cluster. Specifically, survival analysis and Cox regression models were used to test the effect of parental clustering on the incidence of childhood overweight and obesity...
January 19, 2017: Maternal and Child Health Journal
https://www.readbyqxmd.com/read/28102427/prospective-randomised-trial-of-the-time-dependent-antiplatelet-effects-of-500-mg-and-250-mg-acetylsalicylic-acid-i-%C3%A2-v-and-300-mg-p-%C3%A2-o-in-acs-acute
#20
Uwe Zeymer, Thomas Hohlfeld, Jürgen Vom Dahl, Raimund Erbel, Thomas Münzel, Ralf Zahn, Alexander Roitenberg, Stefanie Breitenstein, Ákos Ferenc Pap, Dietmar Trenk
Little is known about the onset of action after intravenous or oral administration of acetylsalicylic acid (ASA) in patients with acute coronary syndromes (ACS). The aim of the study was to compare intravenous 250 or 500 mg acetylsalicylic acid (ASA) with oral 300 mg in ASA naïve patients with ACS concerning the onset of antiplatelet effects measured by time dependent thromboxane inhibition. A total of 270 patients with ACS < 24 hours were randomised into one of three treatment arms comprising administration of a single dose of ASA as soon as possible after admission...
January 19, 2017: Thrombosis and Haemostasis
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