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https://www.readbyqxmd.com/read/29241729/long-term-follow-up-of-ipex-syndrome-patients-after-different-therapeutic-strategies-an-international-multicenter-retrospective-study
#1
Federica Barzaghi, Laura Cristina Amaya Hernandez, Benedicte Neven, Silvia Ricci, Zeynep Yesim Kucuk, Jack Bleesing, Zohreh Nademi, Mary Anne Slatter, Erlinda Rose Ulloa, Anna Shcherbina, Anna Roppelt, Austen Worth, Juliana Silva, Alessandro Aiuti, Luis Murguia-Favela, Carsten Speckmann, Magda Carneiro-Sampaio, Juliana Folloni Fernandes, Safa Baris, Ahmet Ozen, Elif Karakoc-Aydiner, Ayca Kiykim, Ansgar Schulz, Sandra Steinmann, Lucia Dora Notarangelo, Eleonora Gambineri, Paolo Lionetti, William Thomas Shearer, Lisa Forbes, Caridad Martinez, Despina Moshous, Stephane Blanche, Alain Fisher, Frank M Ruemmele, Come Tissandier, M Ouachee-Chardin, Frédéric Rieux-Laucat, Marina Cavazzana, Waseem Qasim, Barbarella Lucarelli, Michael H Albert, Ichiro Kobayashi, Laura Alonso, Cristina Diaz De Heredia, Hirokazu Kanegane, Anita Lawitschka, Jong Jin Seo, Marta Gonzalez-Vicent, Miguel Angel Diaz, Rakesh Kumar Goyal, Martin G Sauer, Akif Yesilipek, Minsoo Kim, Yesim Yilmaz-Demirdag, Monica Bhatia, Julie Khlevner, Erick J Richmond Padilla, Silvana Martino, Davide Montin, Olaf Neth, Agueda Molinos-Quintana, Justo Valverde-Fernandez, Arnon Broides, Vered Pinsk, Antje Ballauf, Filomeen Haerynck, Victoria Bordon, Catharina Dhooge, Maria Laura Garcia-Lloret, Robbert G Bredius, Krzysztof Kałwak, Elie Haddad, Markus Gerhard Seidel, Gregor Duckers, Sung-Yun Pai, Christopher C Dvorak, Stephan Ehl, Franco Locatelli, Frederick Goldman, Andrew Richard Gennery, Mort J Cowan, Maria Grazia Roncarolo, Rosa Bacchetta
BACKGROUND: Immunedysregulation Polyendocrinopathy Enteropathy X-linked (IPEX) syndrome is a monogenic autoimmune disease caused by FOXP3 mutations. Because it is a rare disease, the natural history and response to treatments, including allogeneic hematopoietic stem cell transplantation (HSCT) and immunosuppression (IS), have not been thoroughly examined. OBJECTIVE: To evaluate disease onset, progression and long-term outcome of the two main treatments in long-term IPEX survivors...
December 11, 2017: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/29235035/is-acupuncture-actually-not-effective-for-polycystic-ovary-syndrome-analysis-of-the-trial-published-in-jama
#2
Wei-Juan Gang, Xiang-Hong Jing
In recent years, acupuncture has been applied to treat more and more patients suffering from polycystic ovary syndrome (PCOS). On June 27, 2017 a paper titled "Effect of acupuncture and clomiphene in Chinese women with polycystic ovary syndrome: a randomized clinical trial" was published in Journal of the American Medical Association (JAMA). The results did not support acupuncture as an effective therapy for improving the live births in PCOS. The aim of this article was to analyze the therapeutic regimen and design of the clinical trial...
December 2017: Chinese Journal of Integrative Medicine
https://www.readbyqxmd.com/read/29215849/-study-of-mitochondrial-dysfunction-using-cytoplasmic-hybrid
#3
V V Sinyov, M A Sazonova, V P Karagodin, A I Ryzhkova, E V Galitsyna, A A Melnichenko, N A Demakova, T P Shkurat, I A Sobenin, A N Orekhov
Aim. This review article describes literature sources devoted to the investigation of mitochondrial dysfunction using cytoplasmic hybrids (cybrids). The presented studies were carried out on cultures of cybrid cell lines HL60, MOL T-4, A549, 143B, HeLa, Arpe-19, HEK-293, SH-SY5Y and NT2. According to the analysis of scientific world literature, some of the most promising models for studying mitochondrial dysfunction are cell cultures without mitochondria (rho0) and cytoplasmic hybrids containing one or several mutations of mitochondrial genome...
April 2017: Patologicheskaia Fiziologiia i èksperimental'naia Terapiia
https://www.readbyqxmd.com/read/29213245/implication-of-free-fatty-acids-in-thrombin-generation-and-fibrinolysis-in-vascular-inflammation-in-zucker-rats-and-evolution-with-aging
#4
Jérémy Lagrange, Mélusine Didelot, Amel Mohamadi, Lucy A Walton, Saartje Bloemen, Bas de Laat, Huguette Louis, Simon N Thornton, Brian Derby, Michael J Sherratt, Bruno Fève, Pascal Challande, Riaz Akhtar, J Kennedy Cruickshank, Patrick Lacolley, Véronique Regnault
Background: The metabolic syndrome (MetS) and aging are associated with modifications in blood coagulation factors, vascular inflammation, and increased risk of thrombosis. Objectives: Our aim was to determine concomitant changes in thrombin generation in the blood compartment and at the surface of vascular smooth muscle cells (VSMCs) and its interplay with adipokines, free fatty acids (FFA), and metalloproteinases (MMPs) in obese Zucker rats that share features of the human MetS. Methods: Obese and age-matched lean Zucker rats were compared at 25 and 80 weeks of age...
2017: Frontiers in Physiology
https://www.readbyqxmd.com/read/29201328/hughes-stovin-syndrome-revealing-the-presence-of-beh%C3%A3-et-s-disease
#5
Melek Kechida, Sondes Yaacoubi, Ahmed Zrig, Walid Jomaa, Rim Klii, Sonia Hammami, Ines Khochtali
Background: Hughes-Stovin Syndrome (HSS) is a rare clinical disorder characterized by deep venous thrombosis and multiple pulmonary and/or bronchial aneurysms. Aneurysms in systemic circulation can also be seen. Case presentation: We report the first case of HSS with aortic aneurysm in a 55-year-old man who initially presented with deep venous thrombosis. The diagnosis of HSS revealing Behçet's disease was made given the history of recurrent oral and genital ulcers...
2017: Caspian Journal of Internal Medicine
https://www.readbyqxmd.com/read/29197333/double-product-reflects-the-association-of-heart-rate-with-maces-in-acute-coronary-syndrome-patients-treated-with-percutaneous-coronary-intervention
#6
Tan Xu, Youqin Zhan, Nan Lu, Zhuoqiao He, Xi Su, Xuerui Tan
BACKGROUND: There is little information about the prognostic value of double product (DP) for acute coronary syndrome (ACS) patients treated with percutaneous coronary intervention (PCI). The aim of this study was to investigate whether DP reflects the predictive power of heart rate (HR) or systolic blood pressure (SBP) in ACS patients treated with PCI. METHODS: A total of 7590 ACS patients who had undergone PCI, free from cardiac shock, were included. The follow-up duration was two years...
December 2, 2017: BMC Cardiovascular Disorders
https://www.readbyqxmd.com/read/29046758/coronary-artery-ectasia-presenting-with-acute-inferior-wall-myocardial-infarction-in-a-young-adult
#7
Htun Latt, Sammy Aung, Kyaw Kyaw, Richard Seher
Coronary artery ectasia (CAE), a variant of coronary artery anomalies, is a rare clinical entity. Although atherosclerotic coronary artery disease (CAD) is the most common cause of acute coronary syndrome (ACS), CAE also conveys a relatively high risk for potentially life-threatening cardiac events. We report a case of a 35-year-old male with two-vessel CAE, who presented with acute inferior wall ST election myocardial infarction (STEMI). After initiating medical therapy including bivalirudin, emergent percutaneous coronary intervention (PCI) with stenting of postero-lateral branch of right coronary artery (RCA) was performed...
October 2017: Journal of Community Hospital Internal Medicine Perspectives
https://www.readbyqxmd.com/read/28881431/fractional-co2-laser-of-the-vagina-for-genitourinary-syndrome-of-menopause-is-the-out-of-pocket-cost-worth-the-outcome-of-treatment
#8
Patrick Lang, Jeffrey R Dell, Leonard Rosen, Peter Weiss, Mickey Karram
OBJECTIVES: The purpose of this study is to assess patient's satisfaction treatment outcomes and out-of-pocket expense for the fractional CO2 laser (SmartXide) in the treatment of genitourinary symptoms of menopause (GSM). MATERIALS AND METHODS: A multicenter retrospective cohort study of patients who completed a course of three vaginal treatments with the SmartXide(11) Fractional CO2 laser. Patients contacted via telephone and asked to participate in questionnaires to evaluate for adverse outcomes since last treatment, symptom severity before and after treatment, patient satisfaction with treatment, patient satisfaction with out-of-pocket expense, and sexual function...
September 7, 2017: Lasers in Surgery and Medicine
https://www.readbyqxmd.com/read/28872090/-therapeutic-effect-of-one-day-outpatient-on-gestational-diabetes-mellitus-patients
#9
Nianquan Liao, Jiayou Luo, Xu Zhou, Jiabi Qin
To study the effect of one-day outpatient intervention on gestational diabetes mellitus (GDM) patients, and to explore the pregnancy outcome relevant to GDM patients and their fetus.
 Methods: The GDM patients were divided into two groups according to their own intention to the one-day outpatient. According to systematic sampling method, we chose 200 GDM patients from the above 2 groups, respectively. The 200 GDM patients in the control group were matched the observation group with the age and gestational age, then the pregnancy outcome was tracked...
August 28, 2017: Zhong Nan da Xue Xue Bao. Yi Xue Ban, Journal of Central South University. Medical Sciences
https://www.readbyqxmd.com/read/28871599/shaken-baby-syndrome-and-the-risk-of-losing-scientific-scrutiny
#10
REVIEW
M Rosén, N Lynøe, G Elinder, B Hallberg, P Sundgren, A Eriksson
A systematic review of shaken baby syndrome by the Swedish Agency for Health Technology Assessment and Assessment of Social Services generated numerous reactions from professional organisations, even before the review was published. There was also a lively debate after a paper summarising its findings were published in Acta Paediatrica The various responses are worth debating further, as they raise several important issues with regard to research ethics, having an open debate and publishing scientific findings...
December 2017: Acta Paediatrica
https://www.readbyqxmd.com/read/28868989/ergonomics-investigation-for-orientation-of-the-handles-of-wood-routers
#11
Siddharth Bhardwaj, Abid Ali Khan
Improperly designed hand tools not only exposes the workers to potential health risks but also hamper their productivity. This study tries to improve the ergonomics of wood routing tasks, suggesting better handle orientations for hand held wood routers. In this study, seven different handle combinations were tested over two routing tasks (beading and dado) in regard with perceived discomfort, electromyography (EMG) of biceps brachi (BB) and extensor carpi radialis brevis (ECRB), and hand-arm vibrations (HAV)...
September 4, 2017: International Journal of Occupational Safety and Ergonomics: JOSE
https://www.readbyqxmd.com/read/28845411/leech-therapy-for-treating-priapism-case-report
#12
Sayed Aladdin Asgari, Sadeq Rostami, Mojtaba Teimoori
Priapism is well-defined by persistent, painful penile erection which happens without sexual stimulation. Currently, the hirudotherapy is practiced to treat venous congestion and subsequent compartment syndrome. Here we will report a case of a male with priapism treated by leeches. The case was a 26 yr old young single male referred to the Razi Hospital Emergency Department, Guilan University of Medical Sciences, Rasht, Iran due to long-time spontaneous erections. The patient had no history of mental disorders, trauma or sickle cell anemia...
July 2017: Iranian Journal of Public Health
https://www.readbyqxmd.com/read/28819017/adrenocortical-carcinoma-and-succinate-dehydrogenase-gene-mutations-an-observational-case-series
#13
Tobias Else, Antonio Marcondes Lerario, Jessica Everett, Lori Haymon, Deborah Wham, Michael Mullane, Tremika LeShan Wilson, Irene Rainville, Huma Rana, Andrew J Worth, Nathaniel W Snyder, Ian A Blair, Rana McKay, Kerry Kilbridge, Gary Hammer, Justine Barletta, Anand Vaidya
OBJECTIVE: Germline loss-of-function mutations in succinate dehydrogenase (SDHx) genes results in rare tumor syndromes that include pheochromocytoma, paraganglioma, and others. Here we report a case series of patients with adrenocortical carcinoma (ACC) that harbor SDHx mutations. PATIENTS AND RESULTS: We report four unrelated patients with ACC and SDHx mutations. All cases presented with Cushing syndrome and large adrenal masses that were confirmed to be ACC on pathology...
November 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28791198/psychopathological-symptoms-defense-mechanisms-and-time-perspectives-among-subjects-with-alcohol-dependence-ad-presenting-different-patterns-of-coping-with-stress
#14
Katarzyna Iwanicka, Aneta Gerhant, Marcin Olajossy
BACKGROUND: The problem of coping with stress is an important one in the context of development and persistence of alcohol dependence. In the literature to date very little attention has been paid to coping patterns construed as a configuration of specific coping styles, particularly as regards the functioning of addicted individuals. The aim of the study was to verify whether individuals with alcohol dependence characterized by different coping patterns differ with respect to the severity of psychopathological symptoms, defense mechanisms and time perspectives...
2017: PeerJ
https://www.readbyqxmd.com/read/28770334/association-between-organic-food-consumption-and-metabolic-syndrome-cross-sectional-results-from-the-nutrinet-sant%C3%A3-study
#15
Julia Baudry, Hélène Lelong, Solia Adriouch, Chantal Julia, Benjamin Allès, Serge Hercberg, Mathilde Touvier, Denis Lairon, Pilar Galan, Emmanuelle Kesse-Guyot
PURPOSE: Metabolic syndrome (MetS), a multicomponent condition, is a cardiovascular disease predictor. Although exposure to agricultural pesticides has been suggested as a potential contributor to the rising rates of obesity, type 2 diabetes, and other features of metabolic disorders, no studies have focused on the association between consumption of organic food (produced without synthetic pesticides) and MetS. We aimed to investigate the cross-sectional association between organic food consumption and MetS in French adults to determine whether it would be worth conducting further studies, particularly large prospective and randomised trials...
August 2, 2017: European Journal of Nutrition
https://www.readbyqxmd.com/read/28752697/clinical-features-of-pregnancy-associated-retinal-and-choroidal-diseases-causing-acute-visual-disturbance
#16
Young Joo Park, Kyu Hyung Park, Se Joon Woo
PURPOSE: To report clinical features of patients with retinal and choroidal diseases presenting with acute visual disturbance during pregnancy. METHODS: In this retrospective case series, patients who developed acute visual loss during pregnancy (including puerperium) and visited a tertiary hospital from July 2007 to June 2015, were recruited by searching electronic medical records. Patients were categorized according to the cause of visual loss. Clinical features and required diagnostic modalities were analyzed in the retinal and choroidal disease group...
August 2017: Korean Journal of Ophthalmology: KJO
https://www.readbyqxmd.com/read/28712486/myoclonic-epilepsy-in-infancy-with-preceding-or-concurrent-afebrile-generalized-tonic-clonic-seizures-in-chinese-children
#17
Zhixian Yang, Hui Li, Jiao Xue, Ping Qian, Xiaoyan Liu, Yuehua Zhang
OBJECTIVE: To investigate the general characteristics and the category of myoclonic epilepsy in infancy (MEI) with or without afebrile generalized tonic-clonic seizures (GTCS). METHODS: Thirty-three children were retrospectively recruited from approximately 42,814 video-electroencephalogram (VEEG) recordings monitored in our department over last nearly 10years. Myoclonic seizures (MS) must be identified by VEEG in all patients. The clinical, EEG features and outcome were analyzed among these patients...
July 13, 2017: Brain & Development
https://www.readbyqxmd.com/read/28689673/the-anatomy-of-apathy-a-neurocognitive-framework-for-amotivated-behaviour
#18
C Le Heron, M A J Apps, M Husain
Apathy is a debilitating syndrome associated with many neurological disorders, including several common neurodegenerative diseases such as Parkinson's disease and Alzheimer's disease, and focal lesion syndromes such as stroke. Here, we review neuroimaging studies to identify anatomical correlates of apathy, across brain disorders. Our analysis reveals that apathy is strongly associated with disruption particularly of dorsal anterior cingulate cortex (dACC), ventral striatum (VS) and connected brain regions...
July 8, 2017: Neuropsychologia
https://www.readbyqxmd.com/read/28680642/long-lasting-response-to-oral-therapy-in-a-young-male-with-monogenic-diabetes-as-part-of-hnf1b-related-disease
#19
Elena Carrillo, Amparo Lomas, Pedro J Pinés, Cristina Lamas
Mutations in hepatocyte nuclear factor 1β gene (HNF1B) are responsible for a multisystemic syndrome where monogenic diabetes (classically known as MODY 5) and renal anomalies, mostly cysts, are the most characteristic findings. Urogenital malformations, altered liver function tests, hypomagnesemia or hyperuricemia and gout are also part of the syndrome. Diabetes in these patients usually requires early insulinization. We present the case of a young non-obese male patient with a personal history of renal multicystic dysplasia and a debut of diabetes during adolescence with simple hyperglycemia, negative pancreatic autoimmunity and detectable C-peptide levels...
2017: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/28673743/-ice-axe-wrist-a-case-report-of-intersection-syndrome-in-2-climbers
#20
Anna L Tobin
Intersection syndrome is an inflammatory condition located at the crossing point between the first and second dorsal compartments in the wrist. It is an uncommon presentation but has been recognized as an injury typical of rowers (when it is named oarsman's wrist) and other sports such as racquet sports, baseball, cycling, hockey, golf, ice hockey, skiing, and softball. It has not been previously described in climbers. This report details 2 cases of intersection associated with the use of an ice axe. The first presentation was in a female climber who was using an ice axe for climbing in the Nepal Himalayas and the second was in a male climber using an ice axe for winter climbing training in the Alps...
June 30, 2017: Wilderness & Environmental Medicine
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