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Sever's Disease

Malte Milkau, Friedhelm Sayk
Thyroid storm and myxedema coma are the most severe clinical forms of thyroid dysfunction. While both hyper- and hypothyroidsm are common diseases, thyroid storm and myxedema coma are rare. Due to their unspecific signs and symptoms they are often difficult to diagnose. Both disorders are medical emergencies, which still show a significant mortality. The following article summarizes diagnostic tools and treatment options for these disorders.
March 2018: Deutsche Medizinische Wochenschrift
Huihui Sun, Naijun Wan, Xinli Wang, Liang Chang, Dazhi Cheng
18p deletion syndrome is a rare chromosomal disease caused by deletion of the short arm of chromosome 18. By using cytogenetic and SNP array analysis, we identified a girl with 18p deletion syndrome exhibiting craniofacial anomalies, intellectual disability, and short stature. G-banding analysis of metaphase cells revealed an abnormal karyotype 46,XX,del(18)(p10). Further, SNP array detected a 15.3-Mb deletion at 18p11.21p11.32 (chr18:12842-15375878) including 61 OMIM genes. Genotype-phenotype correlation analysis showed that clinical manifestations of the patient were correlated with LAMA1, TWSG1, and GNAL deletions...
March 16, 2018: Cytogenetic and Genome Research
Stacy A Voils, Mohamed H Shahin, Timothy J Garrett, Reginald F Frye
OBJECTIVE: Incidence of venous thromboembolism (VTE) in critically ill patients remains unacceptably high despite widespread use of thromboprophylaxis. A systems biology approach may be useful in understanding disease pathology and predicting response to treatment. Metabolite profile under specific environmental conditions provides the closest link to phenotype, but the relationship between metabolomics and risk of VTE in critically ill patients is unknown. In this study, metabolomics signatures are compared in patients with and without VTE...
March 8, 2018: Thrombosis Research
Godwin U Ebiloma, Teresa Díaz Ayuga, Emmanuel O Balogun, Lucía Abad Gil, Anne Donachie, Marcel Kaiser, Tomás Herraiz, Daniel K Inaoka, Tomoo Shiba, Shigeharu Harada, Kiyoshi Kita, Harry P de Koning, Christophe Dardonville
African trypanosomiasis is a neglected parasitic disease that is still of great public health relevance, and a severe impediment to agriculture in endemic areas. The pathogens possess certain unique metabolic features that can be exploited for the development of new drugs. Notably, they rely on an essential, mitochondrially-localized enzyme, Trypanosome Alternative Oxidase (TAO) for their energy metabolism, which is absent in the mammalian hosts and therefore an attractive target for the design of safe drugs...
February 26, 2018: European Journal of Medicinal Chemistry
Kinga A Kocemba-Pilarczyk, Barbara Ostrowska, Sonia Trojan, Ecce Aslan, Dorota Kusior, Małgorzata Lasota, Claire Lenouvel, Joanna Dulińska-Litewka
Multiple myeloma (MM) is characterized as a clonal expansion of malignant plasma cells in the bone marrow, which is often associated with pancytopenia and osteolytic bone disease. Interestingly, myeloma-infiltrated bone marrow is considered to be hypoxic, providing selection pressure for a developing tumour. Since HSP90 was shown to participate in stabilization of the subunit of the key transcription factor HIF-1, which controls the hypoxic response, the aim of this study was to investigate the influence of a HSP90 inhibitor 17-Allylamino-17-demethoxygeldanamycin (17-AAG), on MM cells cultured under low oxygenation conditions...
March 15, 2018: Acta Biochimica Polonica
Carmen Scheibenbogen, Madlen Loebel, Helma Freitag, Anne Krueger, Sandra Bauer, Michaela Antelmann, Wolfram Doehner, Nadja Scherbakov, Harald Heidecke, Petra Reinke, Hans-Dieter Volk, Patricia Grabowski
INTRODUCTION: Infection-triggered disease onset, chronic immune activation and autonomic dysregulation in Chronic Fatigue Syndrome/Myalgic Encephalomyelitis (CFS/ME) point to an autoimmune disease directed against neurotransmitter receptors. We had observed elevated autoantibodies against ß2 adrenergic receptors, and muscarinic 3 and 4 acetylcholine receptors in a subset of patients. Immunoadsorption (IA) was shown to be effective in removing autoantibodies and improve outcome in various autoimmune diseases...
2018: PloS One
Franck Maunoury, Aurore Clément, Chizoba Nwankwo, Laurie Levy-Bachelot, Armand Abergel, Vincent Di Martino, Eric Thervet, Isabelle Durand-Zaleski
OBJECTIVE: To assess the cost-effectiveness of the elbasvir/grazoprevir (EBR/GZR) regimen in patients with genotype 1 chronic hepatitis C virus (HCV) infection with severe and end-stage renal disease compared to no treatment. DESIGN: This study uses a health economic model to estimate the cost-effectiveness of treating previously untreated and treatment experienced chronic hepatitis C patients who have severe and end stage renal disease with the elbasvir-grazoprevir regimen versus no treatment in the French context...
2018: PloS One
Kosuke Sakitani, Nobumi Suzuki, Sozaburo Ihara, Yoshihiro Hirata, Shoji Kawazu, Yasuhiko Iwamoto, Kazuhiko Koike
OBJECTIVES: To determine if a discrepancy exists between subjective symptoms and the grade of endoscopic gastroesophageal reflux disease (GERD) in diabetes mellitus (DM) patients. METHODS: All 2,884 patients who underwent esophagogastroduodenoscopy completed the modified Gastrointestinal Symptom Rating Scale (GSRS), an interview-based rating scale consisting of 16 items including a question on acid regurgitation. Patients were divided into DM and non-DM groups (1,135 and 1,749 patients, respectively)...
2018: PloS One
Meda E Pavkov, Jessica L Harding, Nilka R Burrows
Acute kidney injury is a sudden decrease in kidney function with or without kidney damage, occurring over a few hours or days. Diabetes, hypertension, and advanced age are primary risk factors for acute kidney injury. It is increasingly recognized as an in-hospital complication of sepsis, heart conditions, and surgery (1,2). Its most severe stage requires treatment with dialysis. Acute kidney injury is also associated with higher likelihood of long-term care, incidence of chronic kidney disease and hospital mortality, and health care costs (1,2)...
March 16, 2018: MMWR. Morbidity and Mortality Weekly Report
Qiong Zheng, Wenjiang Huang, Ximin Cui, Yue Shi, Linyi Liu
Yellow rust is one of the most destructive diseases for winter wheat and has led to a significant decrease in winter wheat quality and yield. Identifying and monitoring yellow rust is of great importance for guiding agricultural production over large areas. Compared with traditional crop disease discrimination methods, remote sensing technology has proven to be a useful tool for accomplishing such a task at large scale. This study explores the potential of the Sentinel-2 Multispectral Instrument (MSI), a newly launched satellite with refined spatial resolution and three red-edge bands, for discriminating between yellow rust infection severities (i...
March 15, 2018: Sensors
Morgan Lawley, Jessica W Wu, Victor M Navas-López, Hien Q Huynh, Matthew W Carroll, Min Chen, Pavel Medvedev, Andrew S Day, Séamus Hussey, Rotem Sigall-Boneh, Arie Levine, Eytan Wine
OBJECTIVES: Exclusive enteral nutrition (EEN) is an effective induction treatment for pediatric Crohn disease. Given the center-based variation in use and diversity in practice we constructed a survey aimed at sharing experience and strategies in administering EEN, stimulating further research, and optimizing therapy. METHODS: This survey was constructed after consultation with experts and designed to address key knowledge gaps. The survey was disseminated through the Paediatric IBD Porto Group of ESPGHAN, Canadian Children IBD Network, selective experts, and was sent twice through the PEDGI-BB...
March 14, 2018: Journal of Pediatric Gastroenterology and Nutrition
Mary Allyson Lowry, Michael F Vaezi, Hernan Correa, Tina Higginbotham, James C Slaughter, Sari Acra
BACKGROUND & AIMS: Eosinophilic esophagitis (EoE) is a chronic disorder in children that requires continued assessment of disease activity, involving repeated sedation, endoscopy, and biopsy analysis. We investigated whether mucosal impedance measurements can be used to monitor disease activity in pediatric patients with EoE. METHODS: We measured mucosal impedance at 3 locations in the esophagus in pediatric patients (1-18 years old; 32 with active EoE, 10 with inactive EoE, 32 with non-erosive reflux disease [NERD]) and 53 children with symptoms but normal findings from histologic analyses (controls) undergoing routine esophagogastroduodenoscopy at the Vanderbilt Pediatric Gastroenterology Clinic...
March 14, 2018: Journal of Pediatric Gastroenterology and Nutrition
B M Kamath, A Baker, R Houwen, L Todorova, N Kerkar
BACKGROUND: Alagille syndrome (ALGS) is an inherited multisystem disorder typically manifesting as cholestasis, and potentially leading to end-stage liver disease and death. AIM: To perform the first systematic review of the epidemiology, natural history and burden of ALGS with a focus on the liver component. METHODS: Electronic databases and proceedings from key congresses were searched in accordance with Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) 2009 guidelines...
March 14, 2018: Journal of Pediatric Gastroenterology and Nutrition
Meyrick Kidwell, Bart A Ellenbroek
There is a bidirectional relationship between affective disorders and cardiovascular abnormalities, often described as a downward spiral, whereas major depressive disorders (MDD, and anxiety disorders) significantly increase the risk of developing cardiovascular diseases (CVD); CVD are also associated with increased risk of developing MDD (and anxiety disorders). Moreover, the prognosis and progression of CVD is significantly worsened in the presence of MDD. Heart rate variability (HRV) has often been suggested as a potential mediator in this comorbidity...
April 2018: Behavioural Pharmacology
Jildou Hoekstra, Aafke H C van Roon, Frank C Bekkering, Antonie J P van Tilburg, Rachel L West
INTRODUCTION: The aim of this study was to evaluate information provided on pregnancy, personal decision making, disease course, and outcome of pregnancy from a patient's perspective in a population of patients with inflammatory bowel disease (IBD) attending two general hospitals. PATIENTS AND METHODS: A questionnaire was sent to all female patients with IBD in two general hospitals in the Netherlands. The questionnaire comprised four sections: (i) demographic data and medication use (ii) details on previous pregnancies and reasons for not becoming pregnant, (iii) outcome of pregnancies before IBD diagnosis, and (iv) outcome of pregnancies after IBD diagnosis...
March 14, 2018: European Journal of Gastroenterology & Hepatology
Kimberly L Savin, Emily R Hamburger, Alexandra D Monzon, Niral J Patel, Katia M Perez, Jadienne H Lord, Sarah S Jaser
Family conflict in adolescents with type 1 diabetes (T1D) has been linked to worse disease management (i.e., glycemic control, adherence to treatment regimen) and reduced quality of life. We sought to examine parental risk factors associated with increased levels of diabetes-specific family conflict and to investigate the discrepancies between parent and adolescent reports of conflict. Adolescents with T1D and their parents (N = 120 dyads) completed measures of diabetes-specific family conflict. Adolescents also reported on health-related quality of life, and parents reported on demographic information...
February 2018: Journal of Family Psychology: JFP
Ana Hernández, Paula Arbildi, Cecilia Sóñora, Natalia Del Río, Juan Martin Marques
Tissue transglutaminase is a ubiquitous and multifunctional protein that contribute to several processes such as apoptosis/survival, efferocytosis, inflammation and tissue repairing under physiological and pathological conditions. Several activities can be associated with well established functional domains; in addition, four RNA alternative splice variants have been described, characterized by sequence divergences and residues deletion at the C-terminal domains Tissue transglutaminase is recognized as the central player in the physiopathology of celiac disease mainly through calcium dependent enzymatic activities...
March 15, 2018: Scandinavian Journal of Immunology
D Roorda, M J Witvliet, L M Wellens, D V Schulten, C E J Sloots, I de Blaauw, P M A Broens, J Oosterlaan, L W E van Heurn, A F W van der Steeg
AIM: Total colonic aganglionosis (TCA) is a severe form of Hirschsprung's Disease (HD) associated with a high morbidity. This study assesses long-term functional outcome and Quality of Life (QoL) of TCA patients in a national consecutive cohort. METHODS: Medical records of all patients (n=53) diagnosed between 1995 and 2015 were reviewed on surgical and demographic characteristics. Functional outcome of all non-syndromal patients, aged ≥ four years (n=35) was assessed in medical records and with a questionnaire...
March 15, 2018: Colorectal Disease: the Official Journal of the Association of Coloproctology of Great Britain and Ireland
I Yu Lisitskiy, A M Kiselev, S E Kiselev
Pathological processes in the craniovertebral region (CVR) are usually accompanied by dislocation complications leading to gross neurological disorders. One of the diseases that affect the CVR and lead to atlanto-axial dislocation (AAD) is rheumatoid arthritis. Errors in the diagnosis of rheumatoid disease and in the choice of a treatment approach may cause adverse outcomes. OBJECTIVE: To define the approach for surgical treatment of AAD associated with rheumatoid disease of the CVR, with allowance for the rigidity of deformity...
2018: Zhurnal Voprosy Neĭrokhirurgii Imeni N. N. Burdenko
A V Tereshchenko, Yu A Belyy, Yu A Sidorova, I G Trifanenkova, M S Tereshchenkova, Yu A Yudina
AIM: to develop the methodology of early primary vitrectomy for aggressive posterior retinopathy of prematurity. MATERIAL AND METHODS: The study included 10 preterm infants (20 eyes; gestational term - 26-30 weeks, post-conceptual age - 34-39 weeks) with severe forms of aggressive posterior retinopathy of prematurity (AP-ROP). All patients underwent a complex ophthalmic examination. Their results were compared with retrospective data of earlier treated AP-ROP patients (10 preterm infants, 20 eyes), in whom laser photocoagulation (LC) was done first (gestational period at the time of LC ranged from 26 to 30 weeks, post-conceptual age - from 34 to 39 weeks)...
2018: Vestnik Oftalmologii
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