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https://www.readbyqxmd.com/read/27906503/neurodevelopmental-disorders
#1
REVIEW
Hana D'Souza, Annette Karmiloff-Smith
Recent technological advances allow us to measure how the infant brain functions in ways that were not possible just a decade ago. Although methodological advances are exciting, we must also consider how theories guide research: what we look for and how we explain what we find. Indeed, the ways in which research findings are interpreted affects the design of policies, educational practices, and interventions. Thus, the theoretical approaches adopted by scientists have a real impact on the lives of children with neurodevelopmental disorders (NDDs) and their families, as well as on the wider community...
December 1, 2016: Wiley Interdisciplinary Reviews. Cognitive Science
https://www.readbyqxmd.com/read/27906200/evaluating-the-quality-of-marfan-genotype-phenotype-correlations-in-existing-fbn1-databases
#2
Kristian A Groth, Yskert Von Kodolitsch, Kerstin Kutsche, Mette Gaustadnes, Kasper Thorsen, Niels H Andersen, Claus H Gravholt
BACKGROUND: Genetic FBN1 testing is pivotal for confirming the clinical diagnosis of Marfan syndrome. In an effort to evaluate variant causality, FBN1 databases are often used. We evaluated the current databases regarding FBN1 variants and validated associated phenotype records with a new Marfan syndrome geno-phenotyping tool called the Marfan score. METHODS AND RESULTS: We evaluated four databases (UMD-FBN1, ClinVar, the Human Gene Mutation Database (HGMD), and Uniprot) containing 2,250 FBN1 variants supported by 4,904 records presented in 307 references...
December 1, 2016: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/27906199/microduplication-of-the-arid1a-gene-causes-intellectual-disability-with-recognizable-syndromic-features
#3
Marie Bidart, Michèle El Atifi, Sarra Miladi, John Rendu, Véronique Satre, Pierre F Ray, Caroline Bosson, Françoise Devillard, Daphné Lehalle, Valérie Malan, Jeanne Amiel, Maria Antonietta Mencarelli, Margherita Baldassarri, Alessandra Renieri, Jill Clayton-Smith, Gaëlle Vieville, Julien Thevenon, Florence Amblard, François Berger, Pierre-Simon Jouk, Charles Coutton
PURPOSE: To determine whether duplication of the ARID1A gene is responsible for a new recognizable syndrome. METHODS: We describe four patients with a 1p36.11 microduplication involving ARID1A as identified by array-comparative genomic hybridization . We performed comparative transcriptomic analysis of patient-derived fibroblasts using RNA sequencing and evaluated the impact of ARID1A duplication on the cell cycle using fluorescence-activated cell sorting. Functional relationships between differentially expressed genes were investigated with ingenuity pathway analysis (IPA)...
December 1, 2016: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/27906087/legionella-pneumonia-in-the-niagara-region-ontario-canada-a-case-series
#4
Stephanie Cargnelli, Jeff Powis, Jennifer L Y Tsang
BACKGROUND: Legionella pneumophila, a major cause of Legionnaires' disease, accounts for 2-15 % of all community-acquired pneumonia requiring hospitalization and up to 30 % of community-acquired pneumonia requiring intensive care unit admission. Early initiation of appropriate antimicrobial therapy is a crucial step in the prevention of morbidity and mortality. However, recognition of Legionnaires' disease continues to be challenging because of its nonspecific clinical features. We sought to describe hospitalized community-acquired Legionnaires' disease to increase awareness of this important and potentially lethal disease...
December 1, 2016: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/27906006/integrated-therapy-for-hiv-and-tuberculosis
#5
REVIEW
Weerawat Manosuthi, Surasak Wiboonchutikul, Somnuek Sungkanuparph
Tuberculosis (TB) has been the most common opportunistic infection and cause of mortality among HIV-infected patients, especially in resource-limited countries. Clinical manifestations of TB vary and depend on the degree of immunodeficiency. Sputum microscopy and culture with drug-susceptibility testing are recommended as a standard method for diagnosing active TB. TB-related mortality in HIV-infected patients is high especially during the first few months of treatment. Integrated therapy of both HIV and TB is feasible and efficient to control the diseases and yield better survival...
May 12, 2016: AIDS Research and Therapy
https://www.readbyqxmd.com/read/27905865/transient-bone-marrow-edema-syndrome-versus-osteonecrosis-perfusion-patterns-at-dynamic-contrast-enhanced-mr-imaging-with-high-temporal-resolution-can-allow-differentiation
#6
Tobias Geith, Thomas Niethammer, Stefan Milz, Olaf Dietrich, Maximilian Reiser, Andrea Baur-Melnyk
Purpose To prospectively evaluate the perfusion patterns at quantitative dynamic contrast material-enhanced (DCE) magnetic resonance (MR) imaging of transient bone marrow edema syndrome (TBMES) and avascular osteonecrosis. Materials and Methods Institutional review board approval and written informed consent were obtained. Thirty-two patients (21 men, 11 women; mean age, 48 years; 26 hips, 10 knees) underwent conventional MR imaging and a dynamic contrast-enhanced three-dimensional spoiled gradient-echo sequence at 3 T...
December 1, 2016: Radiology
https://www.readbyqxmd.com/read/27905645/-morbidity-profile-among-adolescents-with-down-syndrome
#7
Antonia Cárdenas, María A Paul, Catalina Correa, Sebastián Valderrama, Jaime Cerda, Macarena Lizama
BACKGROUND: There is a paucity of information about morbidity and mortality of adolescents with Down syndrome (DS). AIM: To describe morbidity and mortality of a cohort of Chilean adolescents with DS. MATERIAL AND METHODS: Review of electronic clinical records of 67 ambulatory patients with DS aged 10 to 20 years (37 women), seen between the years 2007 and 2014 in outpatient clinics of a University hospital. RESULTS: The mean age at the last consultation was 13 ± 3 years...
August 2016: Revista Médica de Chile
https://www.readbyqxmd.com/read/27905336/retropupillary-fixation-of-iris-claw-lens-in-visual-rehabilitation-of-aphakic-eyes
#8
G Jayamadhury, Sudhakar Potti, K Vinaya Kumar, R Madhu Kumar, K C Divyansh Mishra, Srinivasa Rao Nambula
CONTEXT: Surgical outcome of retropupillary fixation of iris claw lens. AIMS: To evaluate the various indications, intra and post-operative complications, and visual outcome of retropupillary fixation of iris claw lens in aphakic eyes. SETTINGS AND DESIGN: The study design is a retrospective study at a tertiary eye care center. METHODS: Review of medical records of 61 aphakic eyes of 61 patients, who were rehabilitated with retropupillary fixation of an iris claw lens, with a follow-up duration of at least 1 year...
October 2016: Indian Journal of Ophthalmology
https://www.readbyqxmd.com/read/27905109/a-lethal-neonatal-phenotype-of-mitochondrial-short-chain-enoyl-coa-hydratase-1-deficiency
#9
F Al Mutairi, H E Shamseldin, M Alfadhel, R J Rodenburg, F S Alkuraya
Short-chain enoyl-CoA hydratase (SCEH) is a mitochondrial enzyme involved in the oxidation of fatty acids and the catabolic pathway of valine and, to a lesser extent, isoleucine. Deficiency of this enzyme was recently shown to cause an early childhood Leigh syndrome phenotype. The few reported patients were compound heterozygotes for two missense or missense with truncating variants in ECHS1 that encodes SCEH. We describe two siblings with severe refractory lactic acidosis and death within the first 2 days of life...
October 13, 2016: Clinical Genetics
https://www.readbyqxmd.com/read/27904903/prediction-of-severe-bleeding-after-coronary-surgery-the-will-bleed-risk-score
#10
Fausto Biancari, Debora Brascia, Francesco Onorati, Daniel Reichart, Andrea Perrotti, Vito G Ruggieri, Giuseppe Santarpino, Daniele Maselli, Giovanni Mariscalco, Riccardo Gherli, Antonino S Rubino, Marisa De Feo, Giuseppe Gatti, Francesco Santini, Magnus Dalén, Matteo Saccocci, Eeva-Maija Kinnunen, Juhani K E Airaksinen, Paola D'Errigo, Stefano Rosato, Francesco Nicolini
Severe perioperative bleeding after coronary artery bypass grafting (CABG) is associated with poor outcome. An additive score for prediction of severe bleeding was derived (n=2494) and validated (n=1250) in patients from the E-CABG registry. Severe bleeding was defined as E-CABG bleeding grades 2-3 (transfusion of >4 units of red blood cells or reoperation for bleeding). The overall incidence of severe bleeding was 6.4 %. Preoperative anaemia (3 points), female gender (2 points), eGFR <45 ml/min/1.73 m(2) (3 points), potent antiplatelet drugs discontinued less than five days (2 points), critical preoperative state (5 points), acute coronary syndrome (2 points), use of low-molecular-weight heparin/fondaparinux/unfractionated heparin (1 point) were independent predictors of severe bleeding...
December 1, 2016: Thrombosis and Haemostasis
https://www.readbyqxmd.com/read/27904864/nephrotic-range-proteinuria-and-peripheral-edema-in-a-child-not-only-idiopathic-nephrotic-syndrome
#11
Valentina Dolcemascolo, Marina Vivarelli, Manuela Colucci, Francesca Diomedi-Camassei, Rossella Piras, Marta Alberti, Francesco Emma
Hemolytic uremic syndrome (HUS) is defined by the simultaneous occurrence of hemolytic anemia, thrombocytopenia, and acute kidney injury due to thrombotic microangiopathy (TMA) mainly occurring in renal and cerebral microvessels. Although the most common cause of HUS in children is Shiga toxin-producing Escherichia coli, atypical forms in which Shiga toxin is not the trigger may occur. Research over the last few years has shown that complement dysregulation secondary to mutations of genes coding for proteins involved in the regulation of the alternative pathway of complement account for most forms of atypical HUS (aHUS)...
September 2016: Case Reports in Nephrology and Dialysis
https://www.readbyqxmd.com/read/27904840/surgical-experience-on-chronic-constrictive-pericarditis-in-african-setting-review-of-35-years-experience-in-cote-d-ivoire
#12
Koffi Herve Yangni-Angate, Yves Tanauh, Christophe Meneas, Florent Diby, Anicet Adoubi, Manga Diomande
BACKGROUND: Surgical experience with chronic constrictive pericarditis (CCP) is rarely documented in Africa; the aim of this study is therefore to review our African experience with CCP from 1977 to 2012 in terms of clinical and surgical outcomes and risk factors of early death after pericardiectomy. METHODS: This retrospective study is related to 120 patients with CCP; there were 72 men and 48 women with an average age at 28.8±10.4 years standard deviation (SD) (8-51 years)...
October 2016: Cardiovascular Diagnosis and Therapy
https://www.readbyqxmd.com/read/27904817/transitional-vertebra-and-spina-bifida-occulta-related-with-chronic-low-back-pain-in-a-young-patient
#13
Maryam Kundi, Maham Habib, Sumbal Babar, Asif K Kundi, Salman Assad, Amjad Sheikh
Bertolotti's syndrome (BS) must be considered as a differential diagnosis in a young patient presenting with low back pain (LBP). We present a case of a 26-year-old male complaining of mild chronic LBP for six years, radiating to his left thigh for the past six months. He has been taking non-steroidal anti-inflammatory drugs (NSAIDs) with skeletal muscle relaxants for pain relief. The X-ray and computed tomography (CT) imagings showed congenital enlargement of the left transverse process of the fifth lumbar (L5) vertebra forming pseudo-articulation with the sacrum and unilateral pars interarticularis defect at the L4 level on the left side, respectively...
October 19, 2016: Curēus
https://www.readbyqxmd.com/read/27904721/usefulness-of-k-point-injection-for-the-nonspecific-neck-pain-in-so-called-k-point-syndrome
#14
Jeong Jae Moon, Myun Whan Ahn, Hyo Sae Ahn, Sung Jun Lee, Dong Yeol Lee
BACKGROUND: Shoichi Kokubun introduced his successful experience with local anesthetic injection at the occipital insertion of the sternocleidomastoid muscle in K-point syndrome. The purpose of this study was to evaluate the short-term and long-term effectiveness of K-point injection and investigate factors affecting treatment results. METHODS: K-point injection was performed in 58 patients with K-point syndrome at Yeungnam University Medical Center. The syndrome was associated with cervical whiplash injury in 10 patients and was of nonspecific origin in the rest...
December 2016: Clinics in Orthopedic Surgery
https://www.readbyqxmd.com/read/27904608/arnebia-euchroma-ointment-can-reduce-abdominal-fat-thickness-and-abdominal-circumference-of-overweight-women-a-randomized-controlled-study
#15
Mansour Siavash, Mohsen Naseri, Mojgan Rahimi
BACKGROUND: Obesity is a worldwide health problem which is associated with a lot of complications. One of these comorbidities is the metabolic syndrome that is in correlation with abdominal fat thickness and waist circumference. Various methods were used to reduce abdominal fat thickness such as liposuction. A noninvasive method is the topical agent. In this study, we investigated the effectiveness of Arnebia euchroma (AE) ointment on the abdominal fat thickness. MATERIALS AND METHODS: This study was a double-blind clinical trial which was done at the endocrinology clinic in Khorshid Hospital, Isfahan, Iran, in 2014...
2016: Journal of Research in Medical Sciences: the Official Journal of Isfahan University of Medical Sciences
https://www.readbyqxmd.com/read/27904553/comparison-of-the-effects-of-metformin-flutamide-plus-oral-contraceptives-and-simvastatin-on-the-metabolic-consequences-of-polycystic-ovary-syndrome
#16
Ferdous Mehrabian, Hatav Ghasemi-Tehrani, Mahboobe Mohamadkhani, Maryam Moeinoddini, Pooya Karimzadeh
BACKGROUND: Polycystic ovary syndrome (PCOS) is one of the common endocrine disorders in women of reproductive ages. It is associated with a range of disorders, such as dyslipidemia, hypertension, insulin resistance (IR), compensatory hyperinsulinemia, gestational, and type 2 diabetes, and increased risk of cardiovascular morbidity. There are different treatments available for PCOS. The purpose of this study was to determine and compare the effects of metformin, flutamide plus oral contraceptives (OCs), and simvastatin on the metabolic consequences of PCOS...
2016: Journal of Research in Medical Sciences: the Official Journal of Isfahan University of Medical Sciences
https://www.readbyqxmd.com/read/27904537/diagnosis-of-obstructive-sleep-apnea-syndrome-in-adults-a-brief-review-of-existing-data-for-practice-in-iran
#17
REVIEW
Moein Foroughi, Hossein Razavi, Majid Malekmohammad, Parisa Adimi Naghan, Hamidreza Jamaati
Obstructive sleep apnea (OSA) is a common disorder associated with major comorbidities. It is estimated that 5-35% of the adult population in Iran are at high risk for OSA. This review article is designed to assist sleep medicine specialists as well as general practitioners in Iran to screen for OSA. It summarizes empirical data for diagnosing OSA including history taking, physical examination, diagnostic testing, and diagnostic criteria with regards to existing sleep medicine centers and availability of diagnostic tests in Iran...
2016: Tanaffos
https://www.readbyqxmd.com/read/27904495/higher-frequency-of-brain-abnormalities-in-neuromyelitis-optica-spectrum-disorder-patients-without-primary-sj%C3%A3-gren-s-syndrome
#18
Li-Na Gu, Min Zhang, Hui Zhu, Jing-Yao Liu
Neuromyelitis optica spectrum disorder often co-exists with primary Sjögren's syndrome. We compared the clinical features of 16 neuromyelitis optica spectrum disorder patients with (n = 6) or without primary Sjögren's syndrome (n = 10). All patients underwent extensive clinical, laboratory, and MRI evaluations. There were no statistical differences in demographics or first neurological involvement at onset between neuromyelitis optica spectrum disorder patients with and without primary Sjögren's syndrome...
October 2016: Neural Regeneration Research
https://www.readbyqxmd.com/read/27904235/management-of-acute-work-related-shoulder-injuries-by-an-early-shoulder-assessment-program-efficiency-of-imaging-investigations
#19
Helen Razmjou, Sandra Lincoln, Christopher Geddes, Dragana Boljanovic, Iona Macritchie, Caterina Virdo-Cristello, Danielle Medeiros, Robin R Richards
Purpose: There has been a significant increase in the number of costly investigations of the shoulder joint over the past decade. The purposes of this study were to (1) describe the diagnostic imaging investigations ordered for injured workers seen at an Early Shoulder Physician Assessment (ESPA) program, (2) evaluate the impact of these investigations on final diagnosis and management, and (3) examine how efficient the program was by determining the appropriateness of referrals and whether costly imaging was justified...
2016: Physiotherapy Canada. Physiothérapie Canada
https://www.readbyqxmd.com/read/27904169/lean-umbilical-cord-a-case-report
#20
N Rippinger, M Elsässer, P Sinn, C Sohn, H Fluhr
The "lean" umbilical cord (also known as thin-cord syndrome) is a comparatively rare anomaly of the umbilical cord, which has seldom been described in the medical literature. We report on a 35-year-old women who presented to us at 29 + 4 weeks gestation with vaginal bleeding and cervical incompetence subsequently complicated not only by premature rupture of membranes but also acute placental insufficiency requiring emergency caesarean section under general anaesthesia at 31 + 2 weeks gestation. At surgery no obvious cause for the acute placental insufficiency - such as placental abruption, cord prolapse or true knot of the umbilical cord - was found...
November 2016: Geburtshilfe und Frauenheilkunde
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