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at syndrome

Cyrill Wehling, Oliver Amon, Martin Bommer, Bernd Hoppe, Karim Kentouche, Gesa Schalk, Rolf Weimer, Michael Wiesener, Bernd Hohenstein, Burkhard Tönshoff, Rainer Büscher, Henry Fehrenbach, Ömer-Necmi Gök, Michael Kirschfink
Various complement-mediated renal disorders are currently treated with the complement inhibitor eculizumab. By blocking the cleavage of C5 this monoclonal antibody prevents cell damage caused by complement-mediated inflammation. We included 23 patients with atypical hemolytic uremic syndrome (aHUS, n=12), C3 glomerulopathies (C3G, n=9) and acute antibody-mediated renal graft rejection (AMR, n=2), treated with eculizumab in 12 hospitals in Germany. We explored the course of complement activation biomarkers and the benefit of therapeutic drug monitoring of eculizumab...
October 26, 2016: Clinical and Experimental Immunology
Anna Grandone, Francesca Del Vecchio Blanco, Annalaura Torella, Manuela Caruso, Filippo De Luca, Raffaella Di Mase, Maria Francesca Messina, Maria Carolina Salerno, Alessia Sallemi, Lucia Perone, Pierluigi Marzuillo, Emanuele Miraglia Del Giudice, Vincenzo Nigro, Laura Perrone
AIMS: We aimed at evaluating a standard multiplex ligation-dependent probe amplification (MLPA) probe set for the detection of aneuploidy to diagnose Turner syndrome (TS). We first fixed an MLPA ratio cutoff able to detect all cases of TS in a pilot TS group. We then tested this value on a second group of TS patients and a short-stature population to measure specificity and sensitivity. METHODS: 15 TS patients with X mosaicism or X structural abnormalities (Pilot TS Group), 45 TS karyotype-assessed patients (TS Group), and 74 prepubertal female patients with apparent idiopathic short stature (Short-Stature Group) were enrolled...
October 27, 2016: Hormone Research in Pædiatrics
Vicente J Llorent, Inmaculada Ruiz-Calzado
: The main objective of this study was to determine the level of burnout among education professionals working with people with disabilities in Córdoba, Spain and the association between these levels and sociodemographic characteristics (sex, age, marital status, and level of education). DESIGN: descriptive, cross-sectional study to determine prevalence. POPULATION: 157 professionals. Evaluation tools: questionnaire to obtain information on sociodemographic characteristics and the Maslach Burnout Inventory (MBI)...
October 2016: Ciência & Saúde Coletiva
Pablo Guardado-Calvo, Eduardo A Bignon, Eva Stettner, Scott Allen Jeffers, Jimena Pérez-Vargas, Gerard Pehau-Arnaudet, M Alejandra Tortorici, Jean-Luc Jestin, Patrick England, Nicole D Tischler, Félix A Rey
Hantaviruses are zoonotic viruses transmitted to humans by persistently infected rodents, giving rise to serious outbreaks of hemorrhagic fever with renal syndrome (HFRS) or of hantavirus pulmonary syndrome (HPS), depending on the virus, which are associated with high case fatality rates. There is only limited knowledge about the organization of the viral particles and in particular, about the hantavirus membrane fusion glycoprotein Gc, the function of which is essential for virus entry. We describe here the X-ray structures of Gc from Hantaan virus, the type species hantavirus and responsible for HFRS, both in its neutral pH, monomeric pre-fusion conformation, and in its acidic pH, trimeric post-fusion form...
October 2016: PLoS Pathogens
Huib H Rabouw, Martijn A Langereis, Robert C M Knaap, Tim J Dalebout, Javier Canton, Isabel Sola, Luis Enjuanes, Peter J Bredenbeek, Marjolein Kikkert, Raoul J de Groot, Frank J M van Kuppeveld
Middle East respiratory syndrome coronavirus (MERS-CoV) causes severe respiratory infections that can be life-threatening. To establish an infection and spread, MERS-CoV, like most other viruses, must navigate through an intricate network of antiviral host responses. Besides the well-known type I interferon (IFN-α/β) response, the protein kinase R (PKR)-mediated stress response is being recognized as an important innate response pathway. Upon detecting viral dsRNA, PKR phosphorylates eIF2α, leading to the inhibition of cellular and viral translation and the formation of stress granules (SGs), which are increasingly recognized as platforms for antiviral signaling pathways...
October 2016: PLoS Pathogens
Takao Saito, Masayuki Iwano, Koichi Matsumoto, Tetsuya Mitarai, Hitoshi Yokoyama, Noriaki Yorioka, Shinichi Nishi, Ashio Yoshimura, Hiroshi Sato, Satoru Ogahara, Yoshie Sasatomi, Yasufumi Kataoka, Shiro Ueda, Akio Koyama, Shoichi Maruyama, Masaomi Nangaku, Enyu Imai, Seiichi Matsuo, Yasuhiko Tomino
BACKGROUND: We designed a prospective and randomized trial of mizoribine (MZR) therapy combined with prednisolone (PSL) for idiopathic membranous nephropathy (IMN) with steroid-resistant nephrotic syndrome (SRNS). METHODS: Patients with IMN were divided into 2 groups, and MZR combined with PSL was administered for 2 years. PSL was initially prescribed at 40 mg/day and tapered. MZR was given once-a-day at 150 mg and 3-times-a-day at 50 mg each to groups 1 and 2...
October 25, 2016: Clinical and Experimental Nephrology
Elena Lopez-Rodriguez, Gemma Gay-Jordi, Adele Mucci, Nico Lachmann, Anna Serrano-Mollar
Lung surfactant is a complex mixture of lipids and proteins lining the alveolar epithelium. At the air-liquid interface, surfactant lowers surface tension, avoiding alveolar collapse and reducing the work of breathing. The essential role of lung surfactant in breathing and therefore in life, is highlighted by surfactant deficiency in premature neonates, which causes neonatal respiratory distress syndrome and results in early death after birth. In addition, defects in surfactant metabolism alter lung homeostasis and lead to disease...
October 25, 2016: Cell and Tissue Research
H Sprague Eustis, Adam Janot, Chirag Jhaveri
PURPOSE: If the interruption of macular fusion for an extended period of time is the key event that results in the development of monofixation syndrome, then the decreased macular input caused by dense cataracts may cause monofixation syndrome in adults. This study was designed to test this hypothesis. METHODS: The study design was a retrospective chart review that identified patients with unilateral cataracts at two southern Louisiana medical centers. Patients were assigned to the dense cataract group if a unilateral cataract had been present for at least 3 months and led to a visual acuity of worse than 20/200...
October 25, 2016: Journal of Pediatric Ophthalmology and Strabismus
Kyung-Eun Lee, Ji-Hyoun Kang, Yi-Rang Yim, Ji-Eun Kim, Jeong-Won Lee, Lihui Wen, Dong-Jin Park, Tae-Jong Kim, Yong-Wook Park, Kyung Chul Yoon, Ji Shin Lee, Shin-Seok Lee
OBJECTIVES: To investigate whether CCL21 and CXCL13 expression levels in the minor salivary gland are associated with the laboratory and clinical manifestations of Sjögren's syndrome (SS). METHODS: Sociodemographic data on 106 SS patients were obtained and the glandular and extraglandular manifestations of the disease were documented. In addition, minor salivary gland biopsies were performed and the patients' laboratory findings were analysed. European League Against Rheumatism SS disease activity index (ESSDAI) values of SS disease activity at the time of biopsy and the SS disease damage index (SSDDI) values were also recorded...
October 21, 2016: Clinical and Experimental Rheumatology
Esmé G Trevelyan, Warren A Turner, Lynn Summerfield-Mann, Nicola Robinson
BACKGROUND: Post amputation, the complication of phantom limb pain (PLP) is prevalent and difficult to manage. This study aimed to determine whether it was feasible and acceptable to undertake a definitive multicentred randomised controlled trial assessing the effectiveness of acupuncture for treating lower limb amputees with PLP. METHODS: A mixed-methods embedded design, including a randomised controlled trial and semistructured interviews, was undertaken. A total of 15 participants with PLP were randomly assigned to receive either eight pragmatic Traditional Chinese Medicine acupuncture treatments and usual care or usual care alone over 4 weeks...
October 25, 2016: Trials
Jilly Naaijen, Saskia de Ruiter, Marcel P Zwiers, Jeffrey C Glennon, Sarah Durston, David J Lythgoe, Steven C R Williams, Tobias Banaschewski, Daniel Brandeis, Barbara Franke, Jan K Buitelaar
BACKGROUND: Compulsivity, the closely linked trait impulsivity and addictive behaviour are associated with several neurodevelopmental disorders, including attention-deficit/hyperactivity disorder (ADHD), autism spectrum disorder (ASD), and obsessive compulsive disorder (OCD). All three disorders show impaired fronto-striatal functioning, which may be related to altered glutamatergic signalling. Genetic factors are also thought to play an important role in the aetiology of compulsivity-related disorders...
October 26, 2016: BMC Psychiatry
Rowayda M Amin, Mohamed Gowieda, Ahmed Bedda, Ahmed Kamel, Alaa Radwan
PURPOSE: To analyze the patterns and causes of intraocular inflammation in patients attending uveitis referral clinics in Egypt. METHODS: The study included 454 patients with uveitis examined both at the Department of Ophthalmology, Alexandria Faculty of Medicine, and tertiary uveitis referral clinics in Cairo and the International Eye Clinic in Upper Egypt, between August 2013 and March 2016. All patients had a comprehensive ocular examination and systemic work-up...
October 26, 2016: Ocular Immunology and Inflammation
Lubka T Roumenina, Julie Rayes, Marie Frimat, Veronique Fremeaux-Bacchi
Endothelium is strategically located at the interface between blood and interstitial tissues, placing thus endothelial cell as a key player in vascular homeostasis. Endothelial cells are in a dynamic equilibrium with their environment and constitute concomitantly a source, a barrier, and a target of defensive mediators. This review will discuss the recent advances in our understanding of the complex crosstalk between the endothelium, the complement system and the hemostasis in health and in disease. The first part will provide a general introduction on endothelial cells heterogeneity and on the physiologic role of the complement and hemostatic systems...
November 2016: Immunological Reviews
T Lattré, S Brammer, S Parmentier, C Van Holder
One year follow-up results after hypothenar fat pad flap surgery for recurrent and end stage carpal tunnel syndrome (CTS) are reported. Before surgery, the patients' complaints with a recurrent CTS were mainly pain and return of pathological symptoms (tingling, nocturnal pain, etc.) whereas the patients with end stage CTS reported problems of loss of sensation. Both groups (8 patients in each group) reported a limited functional status for activity of daily living (ADL) prior to surgery. Evaluations of sensibility, strength, pain and Boston Carpal Tunnel Questionnaire were made preoperatively and postoperatively at 3, 6 and 12 months...
October 2016: Hand Surgery and Rehabilitation
S Ballou, L Keefer
BACKGROUND: Despite the well-documented economic and psychosocial burden of irritable bowel syndrome (IBS), few studies have focused on the impact of IBS on daily activities. This study aims to quantitate impairment in daily activities among IBS patients and to evaluate the relationship between impairment, IBS, quality of life, and psychiatric symptoms. METHODS: A total of 179 participants meeting ROME-III criteria for IBS completed an online research survey evaluating the following variables: (i) the impact of IBS on daily activities, (ii) comorbid psychiatric diagnoses, (iii) symptom severity, (iv) quality of life, and (v) symptom-specific cognitive affective factors related to IBS...
October 25, 2016: Neurogastroenterology and Motility: the Official Journal of the European Gastrointestinal Motility Society
Shihao Dong, Jingsong Chen
Serrated polyposis syndrome (SPS) is closely associated with the initiation and development of colorectal cancer (CRC), however, there is few research on SPS in China. Serrated polyps can be divided into hyperplastic polyps, sessile serrated polyps and traditional serrated polyps. The diagnosis standard of SPS is as following: (1) There are at least 5 serrated lesions in proximal colon, and diameter of more than 2 lesions is >10 mm; (2) The patient has one serrated polyp with family history of SPS; (3) More than 20 serrated polyps can be found in the entire large bowel...
October 25, 2016: Zhonghua Wei Chang Wai Ke za Zhi, Chinese Journal of Gastrointestinal Surgery
Ryan Kunjal, Rabie Adam-Eldien, Raafat Makary, Francois Jo-Hoy, Charles W Heilig
We report the case of a 22-year-old African American female who presented to another facility for routine follow-up in the 34th week of pregnancy with lower extremity swelling and nephrotic-range proteinuria. Although she was normotensive, it was initially thought that she had preeclampsia. She was monitored carefully and delivery was induced at 37 weeks of gestation. She was transferred to our hospital, where she was diagnosed with systemic lupus erythematosus (SLE) based on clinical and laboratory criteria...
September 2016: Case Reports in Nephrology and Dialysis
Maryam Zarkesh, Golaleh Asghari, Parisa Amiri, Nima Hosseinzadeh, Mehdi Hedayati, Arash Ghanbarian, Fereidoun Azizi
BACKGROUND: Since genetic and most environmental factors shape the context of families, some studies have been initiated to investigate the role of familial relationships in metabolic syndrome (MetS). OBJECTIVES: To estimate the familial aggregation of MetS and its components by identifying both case and control probands among Tehranian adults with different socio-behavioral and reproductive characteristics. PATIENTS AND METHODS: This case-controlled/family-based study was conducted on 1,777 families (635 case probands) who participated in the Tehran Lipid and Glucose Study (TLGS)...
August 2016: Iranian Red Crescent Medical Journal
Vincent Strehlow, Marielle E M Swinkels, Rhys H Thomas, Nora Rapps, Steffen Syrbe, Thomas Dorn, Johannes R Lemke
Prompted by the observations of juvenile myoclonic epilepsy (JME) in 22q11.2 deletion syndrome (22q11DS) and recurrent copy number variants in genetic generalized epilepsy (GGE), we searched for further evidence supporting a possible correlation of 22q11DS with GGE and with myoclonic seizures. Through routine diagnostics, we identified 3 novel individuals with the seemingly uncommon combination of 22q11DS and JME. We subsequently screened the literature for reports focussing on the epilepsy phenotype in 22q11DS...
September 2016: Molecular Syndromology
Yoko Miyoshi, Kie Yasuda, Makiko Tachibana, Hisao Yoshida, Emiko Miyashita, Takako Miyamura, Yoshiko Hashii, Kae Hashimoto, Tadashi Kimura, Keiichi Ozono
Gonadal dysfunction and infertility are major endocrinological late effects among childhood cancer survivors. Chemotherapy and radiation have gonadotoxic effects and diminish the ovarian reserve. The serum concentration of anti-Müllerian hormone (AMH) is a useful marker of ovarian reserve in survivors. We conducted a longitudinal study to investigate the variations of AMH in evaluating the acute and chronic effects of cancer therapy on the ovary. Three young female patients with different hematological diseases were registered, and their medical records were reviewed...
October 2016: Clinical Pediatric Endocrinology: Case Reports and Clinical Investigations: Official Journal of the Japanese Society for Pediatric Endocrinology
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