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https://www.readbyqxmd.com/read/29049846/successful-management-of-transfusion-dependent-congenital-dyserythropoietic-anemia-type-1b-with-interferon-alfa-2a
#1
Mathias Rathe, Michael Boe Møller, Pernille Wied Greisen, Niels Fisker
The congenital dyserythropoietic anemias (CDAs) are a group of rare inherited blood disorders characterized by ineffective erythropoiesis as the principal cause of anemia. We present a child with CDA 1b-the rarest and least well-described type-due to a mutation in the C15orf41 gene. The patient presented with severe in utero and neonatal manifestations, typical peripheral limb anomalies as well as rarely reported cardiac manifestations, visual impairment, short stature, and hip dysplasia. Anemia was complicated by iron overload and pronounced extra medullary erythropoiesis leading to skull deformities...
October 19, 2017: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/29046204/-clinical-features-and-vps33b-mutations-in-a-family-affected-by-arthrogryposis-renal-dysfunction-and-cholestasis-syndrome
#2
Da-Gui Huang, Jia-Jia Liu, Li Guo, Yuan-Zong Song
Arthrogryposis, renal dysfunction, and cholestasis (ARC) syndrome is an autosomal recessive disorder caused by mutations in the VPS33B or VIPAS39 gene. The aim of this study was to investigate the clinical features and VPS33B gene mutations of an infant with ARC syndrome. A 47-day-old female infant was referred to the hospital with the complaint of jaundiced skin and sclera for 45 days and abnormal liver function for 39 days. The patient had been managed in different hospitals, but the therapeutic effects were unsatisfactory due to undetermined diagnosis...
October 2017: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/29037648/test-retest-reliability-of-myofascial-trigger-point-detection-in-hip-and-thigh-areas
#3
E Rozenfeld, A S Finestone, U Moran, E Damri, L Kalichman
BACKGROUND: Myofascial trigger points (MTrP's) are a primary source of pain in patients with musculoskeletal disorders. Nevertheless, they are frequently underdiagnosed. Reliable MTrP palpation is the necessary for their diagnosis and treatment. The few studies that have looked for intra-tester reliability of MTrPs detection in upper body, provide preliminary evidence that MTrP palpation is reliable. Reliability tests for MTrP palpation on the lower limb have not yet been performed. OBJECTIVE: To evaluate inter- and intra-tester reliability of MTrP recognition in hip and thigh muscles...
October 2017: Journal of Bodywork and Movement Therapies
https://www.readbyqxmd.com/read/29033574/surgical-site-infections-following-instrumented-stabilization-of-the-spine
#4
Ulrike Dapunt, Caroline Bürkle, Frank Günther, Wojciech Pepke, Stefan Hemmer, Michael Akbar
BACKGROUND: Implant-associated infections are still a feared complication in the field of orthopedics. Bacteria attach to the implant surface and form so-called biofilm colonies that are often difficult to diagnose and treat. Since the majority of studies focus on prosthetic joint infections (PJIs) of the hip and knee, current treatment options (eg, antibiotic prophylaxis) of implant-associated infections have mostly been adapted according to these results. OBJECTIVE: The aim of this study was to evaluate patients with surgical site infections following instrumented stabilization of the spine with regard to detected bacteria species and the course of the disease...
2017: Therapeutics and Clinical Risk Management
https://www.readbyqxmd.com/read/28991677/hurst-revisited-are-symptoms-and-signs-of-functional-motor-and-sensory-disorders-dependent-on-idea
#5
Jon Stone, Jennifer Mutch, Denis Giannokous, Ingrid Hoeritzauer, Alan Carson
INTRODUCTION: Symptoms and signs of functional (psychogenic) motor and sensory disorder are often said to be dependent on the patients' idea of what symptoms should be, rather than anatomy and physiology. This hypothesis has however rarely been tested. MATERIALS AND METHODS: Inspired by a brief experiment carried out in 1919 by neurologist Arthur Hurst we aimed to assess the views of healthy non-medical adults towards paralysis and numbness and their response to tests for functional disorders when asked to pretend to have motor and sensory symptoms...
October 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28983401/birth-weight-as-a-cardio-metabolic-risk-factor-in-iranian-adolescents
#6
Hamidreza Badeli, Hossein Dalili, Afagh Hassanzadeh Rad, Abdolreza Medghalchi, Setila Dalili, Shahin Koohmanaee
BACKGROUND: A large number of epidemiological studies from different geographical regions showed a considerable relationship between low birth weight (LBW) and adverse health effects later in life. This study aims to assess the birth weight (BW) as a cardio metabolic risk factor in Iranian adolescents. METHODS: This cross-sectional study was conducted on 12-year-old students from different areas of Rasht, North Iran. Data were collected by a questionnaire including variables as birth height, BW, gestational age, blood pressure, and laboratory tests including triglycerides (TGs), total cholesterol, low-density lipoprotein-cholesterol (LDL-C), high-density lipoprotein-cholesterol (HDL-C), and insulin level...
2017: International Journal of Preventive Medicine
https://www.readbyqxmd.com/read/28975885/pet-ct-findings-in-patients-with-polymyalgia-rheumatica-without-symptoms-of-cranial-ischaemia
#7
Alexander Lund-Petersen, Anne Voss, Helle Laustrup
INTRODUCTION: Polymyalgia rheumatica (PMR) is an inflammatory disorder that affects the elderly. At present, evidence is limited regarding the usefulness of positron emission tomography-computed tomography (PET-CT) in the diagnosis of PMR. This study aimed to compare patient characteristics and symptoms with PET-CT findings in a Danish population of PMR patients without clinical symptoms of giant cell arteritis. METHODS: The medical records of 50 Danish PET-CT-scanned patients with PMR were reviewed...
October 2017: Danish Medical Journal
https://www.readbyqxmd.com/read/28972872/bone-mass-assessment-in-a-cohort-of-adults-with-down-syndrome-a-cross-sectional-study
#8
Ramón Costa, Rosa De Miguel, Clara García, Diego Real de Asúa, Santos Castañeda, Fernando Moldenhauer, Carmen Suárez
Differences in bone mineral density (BMD) have been observed between adults with Down syndrome (DS) and the general population. The purpose of this article is to describe the prevalence of bone mass disorders in a cohort of adults with DS and their predisposing factors. We performed a cross-sectional study of 104 consecutively recruited adults with DS from an outpatient clinic of a tertiary care hospital in Madrid, Spain. We recorded epidemiological and anthropometric data, nutritional variables, coexisting clinical conditions, and laboratory variables...
October 2017: Intellectual and Developmental Disabilities
https://www.readbyqxmd.com/read/28971414/musculoskeletal-problems-among-greek-perioperative-nurses-in-regional-hospitals-in-southern-peloponnese-musculoskeletal-problems-in-perioperative-nurses
#9
Helen Bakola, Sofia Zyga, Apostolos Stergioulas, George Kipreos, George Panoutsopoulos
The surgery unit is a particularly labor-intensive environment in the hospital. Studies reflect the correlation of labor risk factors for musculoskeletal injuries among nurses but few have investigated the relationship to perioperative nurses. The purpose of this study is the identification and definition of ergonomic risk factors in the operating room and their connection with musculoskeletal disorders in perioperative nurses in regional hospitals in Greece. Forty four Greek perioperative nurses working in regional hospitals in southern Peloponnese participated...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/28969236/comparative-study-of-ultrasonographic-and-anthropometric-measurements-of-regional-adiposity-in-metabolic-syndrome
#10
Rudresh Hiremath, Jebin Ibrahim, Krishna Prasanthi, Harish T Reddy, Rushit Sandeep Shah, Ch Haritha
INTRODUCTION: Metabolic syndrome is complex disorder unifying dyslipidemia, insulin resistance and hyper insulinemia. Rising global epidemic of obesity has tremendous impact on metabolic syndrome. Ultrasound is becoming widely utilized modality for measuring the visceral adiposity. AIM: To determine the usefulness of ultrasonographic measurements in the estimation of regional adiposity and to compare them with anthropometric measurements and to correlate ultrasonographic measurements of regional adiposity and metabolic syndrome...
August 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28965693/-ischiopubic-osteochondrosis-revealed-by-an-atypical-acute-transient-synovitis-of-the-hip-a-case-report
#11
S Stormacq, N Gauquier, O Gilliaux
We report here the case of a 3-year-old patient, who presented a left limp and a total refusal of walking, without any traumatism. Clinical examination revealed a significant pain in the left leg with a limit to the limiting mobilization. Acute phase reactants were slightly elevated. Based on the hip ultrasound, acute transient synovitis of the hip was diagnosed. Following persistent complaints, a hip plain radiography was performed, showing a discreet reshuffle at the right ischiopubic branch. The MRI of the hip revealed a discrete T2 high intensity centered on the right ischiopubic synchondrosis (IPS), corresponding to a Van Neck-Odelberg osteochondrosis...
September 28, 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/28963451/cnv-association-meta-analysis-in-191-161-european-adults-reveals-new-loci-associated-with-anthropometric-traits
#12
Aurélien Macé, Marcus A Tuke, Patrick Deelen, Kati Kristiansson, Hannele Mattsson, Margit Nõukas, Yadav Sapkota, Ursula Schick, Eleonora Porcu, Sina Rüeger, Aaron F McDaid, David Porteous, Thomas W Winkler, Erika Salvi, Nick Shrine, Xueping Liu, Wei Q Ang, Weihua Zhang, Mary F Feitosa, Cristina Venturini, Peter J van der Most, Anders Rosengren, Andrew R Wood, Robin N Beaumont, Samuel E Jones, Katherine S Ruth, Hanieh Yaghootkar, Jessica Tyrrell, Aki S Havulinna, Harmen Boers, Reedik Mägi, Jennifer Kriebel, Martina Müller-Nurasyid, Markus Perola, Markku Nieminen, Marja-Liisa Lokki, Mika Kähönen, Jorma S Viikari, Frank Geller, Jari Lahti, Aarno Palotie, Päivikki Koponen, Annamari Lundqvist, Harri Rissanen, Erwin P Bottinger, Saima Afaq, Mary K Wojczynski, Petra Lenzini, Ilja M Nolte, Thomas Sparsø, Nicole Schupf, Kaare Christensen, Thomas T Perls, Anne B Newman, Thomas Werge, Harold Snieder, Timothy D Spector, John C Chambers, Seppo Koskinen, Mads Melbye, Olli T Raitakari, Terho Lehtimäki, Martin D Tobin, Louise V Wain, Juha Sinisalo, Annette Peters, Thomas Meitinger, Nicholas G Martin, Naomi R Wray, Grant W Montgomery, Sarah E Medland, Morris A Swertz, Erkki Vartiainen, Katja Borodulin, Satu Männistö, Anna Murray, Murielle Bochud, Sébastien Jacquemont, Fernando Rivadeneira, Thomas F Hansen, Albertine J Oldehinkel, Massimo Mangino, Michael A Province, Panos Deloukas, Jaspal S Kooner, Rachel M Freathy, Craig Pennell, Bjarke Feenstra, David P Strachan, Guillaume Lettre, Joel Hirschhorn, Daniele Cusi, Iris M Heid, Caroline Hayward, Katrin Männik, Jacques S Beckmann, Ruth J F Loos, Dale R Nyholt, Andres Metspalu, Johan G Eriksson, Michael N Weedon, Veikko Salomaa, Lude Franke, Alexandre Reymond, Timothy M Frayling, Zoltán Kutalik
There are few examples of robust associations between rare copy number variants (CNVs) and complex continuous human traits. Here we present a large-scale CNV association meta-analysis on anthropometric traits in up to 191,161 adult samples from 26 cohorts. The study reveals five CNV associations at 1q21.1, 3q29, 7q11.23, 11p14.2, and 18q21.32 and confirms two known loci at 16p11.2 and 22q11.21, implicating at least one anthropometric trait. The discovered CNVs are recurrent and rare (0.01-0.2%), with large effects on height (>2...
September 29, 2017: Nature Communications
https://www.readbyqxmd.com/read/28950859/protocol-for-a-multi-centre-randomised-controlled-trial-comparing-arthroscopic-hip-surgery-to-physiotherapy-led-care-for-femoroacetabular-impingement-fai-the-australian-fashion-trial
#13
Nicholas J Murphy, Jillian Eyles, Kim L Bennell, Megan Bohensky, Alexander Burns, Fraser M Callaghan, Edward Dickenson, Camdon Fary, Stuart M Grieve, Damian R Griffin, Michelle Hall, Rachel Hobson, Young Jo Kim, James M Linklater, David G Lloyd, Robert Molnar, Rachel L O'Connell, John O'Donnell, Michael O'Sullivan, Sunny Randhawa, Stephan Reichenbach, David J Saxby, Parminder Singh, Libby Spiers, Phong Tran, Tim V Wrigley, David J Hunter
BACKGROUND: Femoroacetabular impingement syndrome (FAI), a hip disorder affecting active young adults, is believed to be a leading cause of hip osteoarthritis (OA). Current management approaches for FAI include arthroscopic hip surgery and physiotherapy-led non-surgical care; however, there is a paucity of clinical trial evidence comparing these approaches. In particular, it is unknown whether these management approaches modify the future risk of developing hip OA. The primary objective of this randomised controlled trial is to determine if participants with FAI who undergo hip arthroscopy have greater improvements in hip cartilage health, as demonstrated by changes in delayed gadolinium-enhanced magnetic resonance imaging (MRI) of cartilage (dGEMRIC) index between baseline and 12 months, compared to those who undergo physiotherapy-led non-surgical management...
September 26, 2017: BMC Musculoskeletal Disorders
https://www.readbyqxmd.com/read/28944448/early-adolescent-stress-induced-changes-in-prefrontal-cortex-mirna-135a-and-hippocampal-mirna-16-in-male-rats
#14
Yuan Liu, Dexiang Liu, Jingjing Xu, Hong Jiang, Fang Pan
Early-life stress increases susceptibility to post-traumatic stress disorders (PTSD), in which the dysfunction of 5-hydroxytryptamine plays an important role. miRNA-135a in the prefrontal cortex (PFC) and miRNA-16 in the hippocampus (HIP) are closely related to the 5-HT neurotransmitter system. Here, we investigated behavior, miRNA-135a in the PFC, miRNA-16 in the HIP, and 5-HT1AR expression in both brain regions in adolescent and adult rats that were exposed to inescapable stress during their adolescence. Paroxetine hydrochloride and corticotropin-releasing factor antagonist (CP-154,526) were used as intervening measures...
September 25, 2017: Developmental Psychobiology
https://www.readbyqxmd.com/read/28930626/pilot-study-whole-body-manual-subcutaneous-adipose-tissue-sat-therapy-improved-pain-and-sat-structure-in-women-with-lipedema
#15
Karen L Herbst, Christopher Ussery, Alyna Eekema
Background Lipedema is a common painful subcutaneous adipose tissue (SAT) disorder in women affecting the limbs. SAT therapy is a manual therapy to improve soft tissue quality. Objective Determine if SAT therapy improves pain and structure of lipedema SAT. Design Single arm prospective pilot study. Setting Academic medical center. Patients Seven women, 46 ± 5 years, weight 90 ± 19 kg, with lipedema. Intervention Twelve 90-min SAT therapy sessions over 4 weeks. Outcomes Dual X-ray absorptiometry (DXA) scans, SAT ultrasound (Vevo 2100), leg volumetrics, skin caliper assessment, tissue exam, weight, resting metabolic rate, pain assessment, lower extremity functional scale (LEFS) and body shape questionnaire (BSQ) at baseline and end of study...
September 20, 2017: Hormone Molecular Biology and Clinical Investigation
https://www.readbyqxmd.com/read/28926516/association-between-obesity-and-sleep-disorders-in-postmenopausal-women
#16
Maria Fernanda Naufel, Cristina Frange, Monica Levy Andersen, Manoel João Batista Castello Girão, Sergio Tufik, Eliane Beraldi Ribeiro, Helena Hachul
OBJECTIVE: To investigate the relationship between obesity and sleep architecture in postmenopausal women. METHODS: One hundred seven postmenopausal women from the Ambulatory of Integrative Treatment for Female Sleep Disorders were invited by telephone to participate in this study. Fifty-three completed the study. We included women aged 50 to 70 years, and excluded women on hormone therapy or missing data. The study consisted of two meetings, including a full-night polysomnography...
September 18, 2017: Menopause: the Journal of the North American Menopause Society
https://www.readbyqxmd.com/read/28924322/hip-arthroscopy-minimally-invasive-surgery-for-hip-pathologies
#17
Munish Sood, Amresh Ghai
Arthroscopy is considered as one of the revolutionary techniques in the management of musculoskeletal disorders. Hip arthroscopy is a new emerging technique for the management of hip pathologies and it has gained popularity in the past decade. In the present case series, 5 patients with hip pathologies were operated using hip arthroscopy technique and the functional outcome and complications associated with hip arthroscopy were assessed. Harris hip score improved significantly at the latest follow-up. No major complication was noticed in our case series...
April 2017: Medical Journal, Armed Forces India
https://www.readbyqxmd.com/read/28923047/prepubertal-onset-of-slipped-capital-femoral-epiphysis-associated-with-hypothyroidism-a-case-report-and-literature-review
#18
Saori Kadowaki, Tomohiro Hori, Hideki Matsumoto, Kaori Kanda, Michio Ozeki, Yu Shirakami, Norio Kawamoto, Hidenori Ohnishi, Toshiyuki Fukao
BACKGROUND: Slipped capital femoral epiphysis (SCFE) is a common hip disorder characterized by displacement of the capital femoral epiphysis from the metaphysic through the femoral epiphyseal plate. SCFE usually occurs during puberty, with obesity a common risk factor. We experienced a rare case of SCFE associated with hypothyroidism in a prepubescent patient who was not obese. CASE PRESENTATION: The patient was an 8-year-old boy suffering from bilateral SCFE with hypothyroidism...
September 18, 2017: BMC Endocrine Disorders
https://www.readbyqxmd.com/read/28915961/short-stem-total-hip-arthroplasty-potential-explanations-for-persistent-post-surgical-thigh-pain
#19
Isabel A C Baert, Enrique Lluch, Francis Van Glabbeek, Rudy Nuyts, Salim Rufai, Joanna Tuynman, Filip Struyf, Mira Meeus
Short stem uncemented femoral implants were developed with the aim of preserving proximal bone stock for future revisions, improving biomechanical reconstruction, aiding insertion through smaller incisions and potentially decreasing or limiting the incidence of thigh pain. Despite all the advantages of short stem designs, it remains unclear whether they are able to limit post-surgical thigh pain. In patients with short stem hip arthroplasty and persistent thigh pain, it is of the utmost importance to understand the potential etiologies of this chronic pain for selecting the appropriate treatment strategy...
September 2017: Medical Hypotheses
https://www.readbyqxmd.com/read/28914101/pelvic-incidence-and-hip-disorders
#20
Mikhail Saltychev, Katri Pernaa, Matti Seppänen, Keijo Mäkelä, Katri Laimi
Background and purpose - The role of pelvic incidence in hip disorders is unclear. Therefore, we undertook a literature review to evaluate the evidence on that role. Methods - A search was carried out on MEDLINE, SCOPUS, CENTRAL, and CINAHL databases. Quantitative analysis was based on comparison with a reference population of asymptomatic subjects. Results - The search resulted in 326 records: 15 studies were analyzed qualitatively and 13 quantitatively. The estimates of pelvic incidence varied more than 10 degrees from 47 (SD 3...
September 15, 2017: Acta Orthopaedica
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