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https://www.readbyqxmd.com/read/29323665/arterial-tortuosity-syndrome-40-new-families-and-literature-review
#1
Aude Beyens, Juliette Albuisson, Annekatrien Boel, Mazen Al-Essa, Waheed Al-Manea, Damien Bonnet, Ozlem Bostan, Odile Boute, Tiffany Busa, Nathalie Canham, Ergun Cil, Paul J Coucke, Margot A Cousin, Majed Dasouki, Julie De Backer, Anne De Paepe, Sofie De Schepper, Deepthi De Silva, Koenraad Devriendt, Inge De Wandele, David R Deyle, Harry Dietz, Sophie Dupuis-Girod, Eudice Fontenot, Björn Fischer-Zirnsak, Alper Gezdirici, Jamal Ghoumid, Fabienne Giuliano, Neus Baena Diéz, Mohammed Z Haider, Joshua S Hardin, Xavier Jeunemaitre, Eric W Klee, Uwe Kornak, Manuel F Landecho, Anne Legrand, Bart Loeys, Stanislas Lyonnet, Helen Michael, Pamela Moceri, Shehla Mohammed, Laura Muiño-Mosquera, Sheela Nampoothiri, Karin Pichler, Katrina Prescott, Anna Rajeb, Maria Ramos-Arroyo, Massimiliano Rossi, Mustafa Salih, Mohammed Z Seidahmed, Elise Schaefer, Elisabeth Steichen-Gersdorf, Sehime Temel, Fahrettin Uysal, Marine Vanhomwegen, Lut Van Laer, Lionel Van Maldergem, David Warner, Andy Willaert, Tom R Collins, Andrea Taylor, Elaine C Davis, Yuri Zarate, Bert Callewaert
PurposeWe delineate the clinical spectrum and describe the histology in arterial tortuosity syndrome (ATS), a rare connective tissue disorder characterized by tortuosity of the large and medium-sized arteries, caused by mutations in SLC2A10.MethodsWe retrospectively characterized 40 novel ATS families (50 patients) and reviewed the 52 previously reported patients. We performed histology and electron microscopy (EM) on skin and vascular biopsies and evaluated TGF-β signaling with immunohistochemistry for pSMAD2 and CTGF...
January 11, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29320957/cardiovascular-and-metabolic-health-of-74-children-from-women-previously-diagnosed-with-polycystic-ovary-syndrome-in-comparison-with-a-population-based-reference-cohort
#2
Marlieke A de Wilde, Jacobien B Eising, Marlise N Gunning, Maria P H Koster, Annemieke M V Evelein, Geertje W Dalmeijer, Cuno S P M Uiterwaal, Marinus J C Eijkemans, Cornelis K van der Ent, Folkert J Meijboom, Bart C J M Fauser
Women with polycystic ovary syndrome (PCOS) have compromised cardiovascular health profiles and an increased risk of pregnancy complications. In order to evaluate potential consequences, we aim to compare the cardiovascular and metabolic health of the children from women with PCOS with a population-based reference cohort. We included children from women with PCOS between the age of 2.5 to 4 years (n = 42) and 6 to 8 years (n = 32). The reference groups consisted of 168 (3-4 years old) and 130 children (7-8 years old)...
January 1, 2018: Reproductive Sciences
https://www.readbyqxmd.com/read/29301655/intrathecal-antibody-responses-to-galc-in-guillain-barr%C3%A3-syndrome-triggered-by-mycoplasma-pneumoniae
#3
Patrick M Meyer Sauteur, Ruth Huizinga, Anne P Tio-Gillen, Judith Drenthen, Wendy W J Unger, Enno Jacobs, Annemarie M C van Rossum, Bart C Jacobs
Mycoplasma pneumoniae (Mp) triggers Guillain-Barré syndrome (GBS) and elicits anti-galactocerebroside (GalC) antibodies. Specifically anti-GalC IgG is associated with Mp-GBS, possibly because of its better ability to cross the blood-nerve barrier (BNB). We here investigated CSF for the presence of anti-GalC in GBS. Intrathecal anti-GalC was found in 46% of Mp-GBS patients (n=6/13), in contrast to 16% of GBS controls (n=4/25) and 0% of non-GBS controls (n=0/7). The antibodies most likely originated from increased BNB permeability and/or intrathecal synthesis...
January 15, 2018: Journal of Neuroimmunology
https://www.readbyqxmd.com/read/29300219/the-effect-of-a-non-peptide-angiotensin-ii-type-2-receptor-agonist-compound-21-on-aortic-aneurysm-growth-in-a-mouse-model-of-marfan-syndrome
#4
Peter Verbrugghe, Jelle Verhoeven, Marnick Clijsters, Dominique Vervoort, Jarne Schepens, Bart Meuris, Paul Herijgers
IntroductionAvailable evidence suggests that the renin-angiotensin-aldosterone (RAA) system is a good target for medical intervention on aortic root dilatation in Marfan syndrome (MFS). The effect of Compound 21 (C21), a non-peptide angiotensin II type 2 receptor (AT2R) agonist on aneurysm progression is was tested.MethodsMice with a mutation in fibrillin-1 (Fbn1C1039G/+) and wild-type (WT) mice were treated with vehicle, losartan, C21, enalapril or a combination. Blood pressure, aortic root diameter, and histological slides were evaluated...
January 3, 2018: Journal of Cardiovascular Pharmacology
https://www.readbyqxmd.com/read/29274396/transplant-conditioning-with-treosulfan-fludarabine-with-or-without-tbi-a-randomized-phase-ii-trial-in-patients-with-mds-and-aml
#5
H Joachim Deeg, Emily A Stevens, Rachel B Salit, Ralph P Ermoian, Min Fang, Boglarka Gyurkocza, Mohamed L Sorror, Giancarlo Fatobene, Joachim Baumgart, Lauri M Burroughs, Colleen Delaney, Kris Doney, Daniel N Egan, Mary E D Flowers, Filippo Milano, Jerry P Radich, Bart L Scott, Eileen J Sickle, Brent L Wood, Cecilia Yeung, Barry E Storer
In this prospective randomized phase II "pick the winner" trial we assessed the efficacy of transplant conditioning with treosulfan/fludarabine ± 2 Gy total body irradiation (TBI) in reducing post-transplant relapse in 100 patients, 2-70 (median 57) years of age, with myelodysplastic syndrome/chronic myelomonocytic leukemia (MDS/CMML; n=51) or acute myeloid leukemia (AML; n=49). Patients received intravenous (IV) treosulfan, 14 g/m2/day on days -6 to -4 and IV fludarabine, 30 mg/m2/day on days -6 to -2, alone or combined with 2 Gy TBI (day 0)...
December 20, 2017: Biology of Blood and Marrow Transplantation
https://www.readbyqxmd.com/read/29207545/plasma-sphingolipids-in-acute-pancreatitis
#6
Tomasz Konończuk, Bartłomiej Łukaszuk, Małgorzata Żendzian-Piotrowska, Andrzej Dąbrowski, Michalina Krzyżak, Lucyna Ostrowska, Krzysztof Kurek
Acute pancreatitis (AP) is a prevalent gastrointestinal disorder associated with systemic inflammatory response syndrome and, in the case of severe AP, a mortality rate ranging from 36% to 50%. Standard clinical treatment of AP includes intensive hydration, analgesia, and management of complications. Unfortunately, the direct treatment of AP at the level of its molecular pathomechanism has not yet been established. Recent studies indicate that the sphingolipid signaling pathway may be one of the important factors contributing to the development of inflammation in pancreatic diseases...
December 4, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29176373/obstructive-sleep-apnea-and-bariatric-surgical-guidelines-summary-and-update
#7
Christel A L de Raaff, Nico de Vries, Bart A van Wagensveld
PURPOSE OF REVIEW: Increasing numbers of bariatric surgical procedures and the high prevalence of obstructive sleep apnea (OSA) in this population have resulted in a growing interest in the perioperative management of OSA in bariatric surgery. This review provides a summary of the first consensus guideline on this topic as well as an update of the newest literature available. RECENT FINDINGS: All bariatric patients should be screened for OSA and obesity hypoventilation syndrome (OHS) to reduce the risk of perioperative complications...
February 2018: Current Opinion in Anaesthesiology
https://www.readbyqxmd.com/read/29128194/treatment-of-electrical-status-epilepticus-in-sleep-clinical-and-eeg-characteristics-and-response-to-147-treatments-in-47-patients
#8
Bart van den Munckhof, Christian Alderweireld, Susanne Davelaar, Heleen C van Teeseling, Stavros Nikolakopoulos, Kees P J Braun, Floor E Jansen
OBJECTIVE: Electrical status epilepticus in sleep (ESES) syndrome is characterized by near-continuous sleep-induced epileptiform activity and acquired cognitive deficits. Treatment is assumed mandatory to improve cognitive outcome. We aimed to compare EEG characteristics, subjective evaluation and objective neuropsychological assessment as measures to evaluate treatment efficacy, and to analyze possible predictors. METHODS: We retrospectively included patients with ESES syndrome treated in our center...
October 26, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/29114051/dscam-mediated-control-of-dendritic-and-axonal-arbor-outgrowth-enforces-tiling-and-inhibits-synaptic-plasticity
#9
Aaron B Simmons, Samuel J Bloomsburg, Joshua M Sukeena, Calvin J Miller, Yohaniz Ortega-Burgos, Bart G Borghuis, Peter G Fuerst
Mature mammalian neurons have a limited ability to extend neurites and make new synaptic connections, but the mechanisms that inhibit such plasticity remain poorly understood. Here, we report that OFF-type retinal bipolar cells in mice are an exception to this rule, as they form new anatomical connections within their tiled dendritic fields well after retinal maturity. The Down syndrome cell-adhesion molecule (Dscam) confines these anatomical rearrangements within the normal tiled fields, as conditional deletion of the gene permits extension of dendrite and axon arbors beyond these borders...
November 21, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29073292/tofi-phenotype-its-effect-on-the-occurrence-of-diabetes
#10
REVIEW
Zygmunt Zdrojewicz, Ewa Popowicz, Marta Szyca, Tomasz Michalik, Bartłomiej Śmieszniak
Recent studies have reported a significant increase in the incidence of type 2 diabetes in the past 30 years. They also predict that this trend will continue. This is related to a change in lifestyle, which results in a parallel increase in the incidence of overweight and obesity. However, symptoms of the metabolic syndrome, so far closely related to abdominal obesity, are relatively common among people with normal body mass index (BMI) and waist circumference. The aim of the study is to present the TOFI phenotype (thin outside, fat inside) as an important factor in pathogenesis of type 2 diabetes...
2017: Pediatric Endocrinology, Diabetes, and Metabolism
https://www.readbyqxmd.com/read/29065229/prediction-of-disease-progression-in-miller-fisher-and-overlap-syndromes
#11
Christine Verboon, Heleen van Berghem, Pieter A van Doorn, Liselotte Ruts, Bart C Jacobs
BACKGROUND: Patients with Miller Fisher syndrome (MFS) may have a relatively mild clinical course or progress to Guillain-Barré syndrome with limb weakness (MFS-GBS overlap syndrome). Other variants in this spectrum are GBS with ophthalmoparesis and Bickerstaff's Brainstem encephalitis (BBE). AIM: To compare the clinical course of MFS and overlap syndromes and to identify predictors of disease progression. METHODS: In a prospective study of 170 patients with GBS and variant forms, 37 (22%) had a MFS, MFS-GBS overlap syndrome, ophthalmoplegic GBS or BBE...
October 24, 2017: Journal of the Peripheral Nervous System: JPNS
https://www.readbyqxmd.com/read/29034440/risperidone-induced-metabolic-dysfunction-is-attenuated-by-curcuma-longa-extract-administration-in-mice
#12
Florent Auger, Françoise Martin, Olivier Pétrault, Jennifer Samaillie, Thierry Hennebelle, Mohamed-Sami Trabelsi, François Bailleul, Bart Staels, Régis Bordet, Patrick Duriez
Antipsychotics, such as risperidone, increase food intake and induce alteration in glucose and lipid metabolism concomitantly with overweight and body fat increase, these biological abnormalities belong to the metabolic syndrome definition (high visceral adiposity, hypertriglyceridemia, hyperglycemia, low HDL-cholesterol and high blood pressure). Curcumin is a major component of traditional turmeric (Curcuma longa) which has been reported to improve lipid and glucose metabolism and to decrease weight in obese mice...
October 16, 2017: Metabolic Brain Disease
https://www.readbyqxmd.com/read/29033814/a-case-of-aplasia-cutis-congenita-type-vi-bart-syndrome
#13
Yasmin Alfayez, Sahar Alsharif, Adel Santli
Aplasia cutis congenita type VI, also known as Bart syndrome, is a rare genetic mechanobullous disorder characterized by congenital localized absence of skin, mucocutaneous blistering lesions, and nail abnormalities. We present the case of a 4-h-old male newborn who presented with complete absence of skin over the anteromedial aspect of both lower legs associated with nail dystrophy since birth. After a few days, he developed blisters that were consistent with epidermolysis bullosa in histopathological examination...
May 2017: Case Reports in Dermatology
https://www.readbyqxmd.com/read/29032940/molecular-basis-of-%C3%AE-thalassemia
#14
REVIEW
Samaneh Farashi, Cornelis L Harteveld
α-Thalassemia is an inherited, autosomal recessive, disorder characterized by a microcytic hypochromic anemia. It is one of the most common monogenic gene disorders in the world population. The clinical severity varies from almost asymptomatic, to mild microcytic hypochromic, and to a lethal hemolytic condition, called Hb Bart's Hydrops Foetalis Syndrome. The molecular basis are usually deletions and less frequently, point mutations affecting the expression of one or more of the duplicated α-genes. The clinical variation and increase in disease severity is directly related to the decreased expression of one, two, three or four copies of the α-globin genes...
September 21, 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/29023811/placental-growth-factor-inhibition-targets-pulmonary-angiogenesis-and-represents-a-novel-therapy-for-hepatopulmonary-syndrome-in-mice
#15
Sarah Raevens, Anja Geerts, Annelies Paridaens, Sander Lefere, Xavier Verhelst, Anne Hoorens, Jo Van Dorpe, Tania Maes, Ken R Bracke, Christophe Casteleyn, Bart Jonckx, Thomas Horvatits, Valentin Fuhrmann, Hans Van Vlierberghe, Christophe Van Steenkiste, Lindsey Devisscher, Isabelle Colle
Hepatopulmonary syndrome (HPS) is a severe complication of cirrhosis with increased risk of mortality. Pulmonary microvascular alterations are key features of HPS, but underlying mechanisms are incompletely understood, and studies on HPS are limited to rats. Placental growth factor (PlGF), a pro-angiogenic molecule that is selectively involved in pathological angiogenesis, may play an important role in HPS development, however, its role has never been investigated. In this study, we validated an HPS model by common bile duct ligation (CBDL) in mice, investigated the kinetic changes in pulmonary angiogenesis and inflammation during HPS development, and provide evidence for a novel therapeutic strategy by targeting pathological angiogenesis...
October 10, 2017: Hepatology: Official Journal of the American Association for the Study of Liver Diseases
https://www.readbyqxmd.com/read/29020176/dpp4-the-mers-coronavirus-receptor-is-upregulated-in-lungs-of-smokers-and-copd-patients
#16
Leen J M Seys, W Widagdo, Fien M Verhamme, Alex Kleinjan, Wim Janssens, Guy F Joos, Ken R Bracke, Bart L Haagmans, Guy G Brusselle
Background: Middle East respiratory syndrome coronavirus (MERS-CoV) causes pneumonia with a relatively high case fatality rate in humans. Smokers and chronic obstructive pulmonary disease (COPD) patients have been reported to be more susceptible to MERS-CoV infection. Here, we determined the expression of MERS-CoV receptor, dipeptidyl peptidase IV (DPP4), in lung tissues of smokers without airflow limitation and COPD patients in comparison to non-smoking individuals (never-smokers). Methods: DPP4 expression was measured in lung tissue of lung resection specimens of never-smokers, smokers without airflow limitation, COPD GOLD stage II patients and in lung explants of end-stage COPD patients...
August 17, 2017: Clinical Infectious Diseases: An Official Publication of the Infectious Diseases Society of America
https://www.readbyqxmd.com/read/28987660/partial-anomalous-pulmonary-venous-return-in-turner-syndrome
#17
Allard T van den Hoven, Raluca G Chelu, Anthonie L Duijnhouwer, Laurent Demulier, Daniel Devos, Koen Nieman, Maarten Witsenburg, Annemien E van den Bosch, Bart L Loeys, Iris M van Hagen, Jolien W Roos-Hesselink
PURPOSE: The aim of this study is to describe the prevalence, anatomy, associations and clinical impact of partial anomalous pulmonary venous return in patients with Turner syndrome. METHODS AND RESULTS: All Turner patients who presented at our Turner clinic, between January 2007 and October 2015 were included in this study and underwent ECG, echocardiography and advanced imaging such as cardiac magnetic resonance or computed tomography as part of their regular clinical workup...
October 2017: European Journal of Radiology
https://www.readbyqxmd.com/read/28975040/small-volume-plasma-exchange-for-guillain-barr%C3%A3-syndrome-in-resource-poor-settings-a-safety-and-feasibility-study
#18
Md Badrul Islam, Zhahirul Islam, Shafiqur Rahman, Hubert P Endtz, Margreet C Vos, Mathieu van der Jagt, Pieter A van Doorn, Bart C Jacobs, Quazi D Mohammad
BACKGROUND: In Bangladesh, most patients with Guillain-Barré syndrome (GBS) cannot afford standard treatment with intravenous immunoglobulin (IVIG) or a standard plasma exchange (PE) course, which partly explains the high rate of mortality and residual disability associated with GBS in this country. Small volume plasma exchange (SVPE) is an affordable and potentially effective alternative form of plasma exchange. SVPE is the repeated removal of small volumes of supernatant plasma over several days via sedimentation of patient whole blood...
2017: Pilot and Feasibility Studies
https://www.readbyqxmd.com/read/28965549/mild-stimulation-for-in%C3%A2-vitro-fertilization
#19
REVIEW
Geeta Nargund, Adrija Kumar Datta, Bart C J M Fauser
It has been proven that the use of high gonadotropin dose does not necessarily improve the final outcome of IVF. Mild ovarian stimulation is based on the principle of optimal utilization of competent oocytes/embryos and endometrial receptivity. There is growing evidence that the pregnancy or live birth rates with mild-stimulation protocols are comparable to those with conventional IVF; the cumulative pregnancy outcome has been shown to be no different, despite having fewer numbers of oocytes or embryos available with milder ovarian stimulation...
October 2017: Fertility and Sterility
https://www.readbyqxmd.com/read/28952829/mental-fatigue-and-physical-and-cognitive-performance-during-a-two-bout-exercise-test
#20
Susan Vrijkotte, Romain Meeusen, Cloe Vandervaeren, Luk Buyse, Jeroen van Cutsem, Nathalie Pattyn, Bart Roelands
PURPOSE: The two bout exercise protocol has been developed to diagnose non-functional overreaching (NFO) and the 'Overtraining Syndrome' (OTS). It consists of two maximal exercise bouts separated by 4 hours. Mental fatigue negatively influences performance but the effects of its occurrence during the two bout exercise protocol have never been investigated. The aim of this study was to examine whether mental fatigue (induced during the rest period) influences physical and cognitive performance during/after the second exercise bout of the two bout exercise protocol...
September 27, 2017: International Journal of Sports Physiology and Performance
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