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reiter syndrome

R Reiter, B Iglseder, W Treschnitzer, R Alzner, B Mayr-Pirker, M Kreutzer, C Pirich, H Kässmann, P Dovjak, J Reiss
BACKGROUND: Quantification of skeletal muscle mass is mandatory for diagnosing sarcopenia, a highly prevalent geriatric syndrome. While dual energy X-ray absorptiometry (DXA) is the reference method in a clinical context, bioimpedance analysis (BIA) is more readily applicable on a broad scale. Recently BIA equations for the prediction of appendicular skeletal muscle mass in higher age groups have been published, but data on their performance in geriatric inpatients are lacking. METHODS: In 144 geriatric inpatients (86 women and 58 men, mean age 80...
October 26, 2018: Archives of Gerontology and Geriatrics
Xinjun Li, Cecilia Sjöstedt, Jan Sundquist, Bengt Zöller, Kristina Sundquist
AIMS: In the era of genome-wide association studies, familial risks are used to estimate disease heritability and success in gene identification. We wanted to estimate associations of 42 autoimmune diseases with attention-deficit hyperactivity disorder (ADHD) between individuals and family members. PARTICIPANTS AND METHODS: The availability of a Multigeneration Register in Sweden provides reliable access to family data that covers the last century. An open cohort design of the diseases in individual and family members was obtained through linkage to the Hospital Discharge Register...
November 6, 2018: Psychiatric Genetics
Rajeev X Soman, Neha Gupta, Piyush Chaudhari, Ayesha Sunavala, Anjali Shetty, Camilla Rodrigues
Background: The profile of Infective endocarditis (IE) has been evolving continuously. Like other infectious Diseases (ID) syndromes, IE has not escaped from antibiotic resistance issues. The aim of this study was to determine the implications for diagnosis and treatment by studying the clinical profile and outcome of patients admitted with IE in a tertiary care centre in Mumbai during the period from 2007-2015.. Methods: 53 patients having definite or possible IE as per Modified Duke's Criteria (MDC), that were referred to the ID division, were included in this study...
April 2018: Journal of the Association of Physicians of India
Philipp Baumeister, Martin Canis, Maximilian Reiter
OBJECTIVES: To evaluate the impact of preoperative anemia and perioperative blood transfusion (PBT) on disease free (DFS) and overall survival (OS) of patients with head and neck squamous cell carcinoma (HNSCC). METHODS: Retrospective study of 354 patients primarily treated with surgery between 2006 and 2016. Cases were selected according to completeness and accuracy of available clinical data. Thus, a selection bias cannot be excluded. Patients who received PBT were identified by our controlling department and verified by our blood bank data base...
2018: PloS One
Rodrigo G Ducati, Rajesh K Harijan, Scott A Cameron, Peter C Tyler, Gary B Evans, Vern L Schramm
Campylobacter jejuni is a Gram-negative bacterium responsible for food-borne gastroenteritis and associated with Guillain-Barré, Reiter, and irritable bowel syndromes. Antibiotic resistance in C. jejuni is common, creating a need for antibiotics with novel mechanisms of action. Menaquinone biosynthesis in C. jejuni uses the rare futalosine pathway, where 5'-methylthioadenosine nucleosidase ( CjMTAN) is proposed to catalyze the essential hydrolysis of adenine from 6-amino-6-deoxyfutalosine to form dehypoxanthinylfutalosine, a menaquinone precursor...
October 19, 2018: ACS Chemical Biology
Jose A Boga, Beatriz Caballero, Yaiza Potes, Zulema Perez-Martinez, Russel J Reiter, Ignacio Vega-Naredo, Ana Coto-Montes
There are several pathologies, syndromes and physiological processes in which autophagy is involved. This process of self-digestion that cells trigger as a survival mechanism is complex and tightly regulated, according to the homeostatic conditions of the organ. However, in all cases, its relationship with oxidative stress alterations is evident, following a pathway that suggests endoplasmic reticulum stress and/or mitochondrial changes. There is accumulating evidence of the beneficial role that melatonin has in the regulation and restoration of damaged autophagic processes...
October 17, 2018: Journal of Pineal Research
Friedrich Reiterer, Elisabeth Resch, Michaela Haim, Ute Maurer-Fellbaum, Michael Riccabona, Gerfried Zobel, Berndt Urlesberger, Bernhard Resch
Background: ECMO therapy is worldwide declining in the neonatal population; hence, its therapeutic value is sometimes questioned. Objectives: To report our experience with neonatal ECMO due to respiratory failure over a 28 year time period. Methods: Retrospective single center observational study including all neonates admitted to ECMO due to respiratory failure between 1989 and 2016 at Graz, Austria. Data were collected regarding survival rate, duration of ECMO, complications, length of hospital stay, changes over time, and follow-up...
2018: Frontiers in Pediatrics
Jie Yin, Yuying Li, Hui Han, Shuai Chen, Jing Gao, Gang Liu, Xin Wu, Jinping Deng, Qifang Yu, Xingguo Huang, Rejun Fang, Tiejun Li, Russel J Reiter, Dong Zhang, Congrui Zhu, Guoqiang Zhu, Wenkai Ren, Yulong Yin
Melatonin has been shown to improve lipid metabolism and gut microbiota communities in animals and humans; however, it remains to know whether melatonin prevents obesity through gut microbiota. Here, we found that high-fat diet promoted the lipid accumulation and intestinal microbiota dysbiosis in mice, while oral melatonin supplementation alleviated the lipid accumulation and reversed gut microbiota dysbiosis, including the diversity of intestinal microbiota, relative abundances of Bacteroides and Alistipes, and functional profiling of microbial communities, such as energy metabolism, lipid metabolism, and carbohydrate metabolism...
November 2018: Journal of Pineal Research
Hua Qian, Xiaohong Zheng
The emergence of respiratory diseases, i.e., severe acute respiratory syndrome (SARS) epidemic in 2003, H1N1 influenza epidemic in 2011 and Middle East respiratory syndrome (MERS) outbreak, reiterated the significance of ventilation in buildings. The role of ventilation in removing exhaled airborne bio-aerosols and preventing cross infections has been multidisciplinary extensively studied after the SARS outbreak in 2003. The characteristics of droplet-borne, short-range airborne and long-range airborne transmission of infectious diseases were identified...
July 2018: Journal of Thoracic Disease
Yan Huang, Conor McClenaghan, Theresa M Harter, Kristina Hinman, Carmen M Halabi, Scot J Matkovich, Haixia Zhang, G Schuyler Brown, Robert P Mecham, Sarah K England, Attila Kovacs, Maria S Remedi, Colin G Nichols
Cantu syndrome (CS) is characterized by multiple vascular and cardiac abnormalities including vascular dilation and tortuosity, systemic hypotension, and cardiomegaly. The disorder is caused by gain-of-function (GOF) mutations in genes encoding pore-forming (Kir6.1, KCNJ8) and accessory (SUR2, ABCC9) ATP-sensitive potassium (KATP) channel subunits. However, there is little understanding of the link between molecular dysfunction and the complex pathophysiology observed, and there is no known treatment, in large part due to the lack of appropriate preclinical disease models in which to test therapies...
August 9, 2018: JCI Insight
Aiysha Abid, Saba Shahid, Madiha Shakoor, Ali A Lanewala, Seema Hashmi, Shagufta Khaliq
Mutations in the NPHS1, NPHS2, LAMB2 , and the WT1 genes are responsible for causing nephrotic syndrome (NS) in two third of the early onset cases. This study was carried out to assess the frequencies of mutations in these genes in a cohort of pediatric NS patients. A total of 64 pediatric familial or sporadic SRNS cases were recruited. Among these, 74% had a disease onset of up to 3 years of age. We found one homozygous frameshift mutation in the NPHS1 gene in one CNS case and two homozygous mutations in the NPHS2 gene...
2018: Frontiers in Genetics
Rachel Isaksson Vogel, Kristin Niendorf, Heewon Lee, Sue Petzel, Hee Yun Lee, Melissa A Geller
Background: National guidelines recommend genetic counseling for all ovarian cancer patients because up to 20% of ovarian cancers are thought to be due to hereditary cancer syndromes and effective cancer screening and prevention options exist for at-risk family members. Despite these recommendations, uptake of genetic counselling and testing is low. The goal of this study was to identify barriers to and motivators for receipt of genetic counseling along with preferences regarding potential use of a mobile application to promote genetic counseling...
2018: Hereditary Cancer in Clinical Practice
S Brosch, L Nunner, S Haase, G Schlömer, R Reiter, W Angerstein, T K Hoffmann
BACKGROUND: A submucous cleft palate and a congenitally short velum are diagnosed rather late, because symptoms are often mild. OBJECTIVES: The pre- and postoperative clinical symptoms for both conditions are presented. MATERIALS AND METHODS: The data of 180 patients with a submucous cleft palate (161) or congenitally short velum (19) were retrospective analyzed. In 23.3%, a syndromic association was found. RESULTS: Clinical findings for both conditions included middle ear problems, hypernasal speech, nasal penetration, the absence of the posterior nasal spine of the hard palate and/or a bifid uvula with a zona pellucida...
August 2018: HNO
Peter Valent, Cem Akin, Patrizia Bonadonna, Karin Hartmann, Sigurd Broesby-Olsen, Knut Brockow, Joseph H Butterfield, Andreas Reiter, Jason Gotlib, Mariana Castells, Joshua D Milner, Melody C Carter, Hirsh Komarow, Deepti Radia, Animesh Pardanani, Karl Sotlar, Massimo Triggiani, Hans-Peter Horny, Michel Arock, Lawrence B Schwartz, Dean D Metcalfe
No abstract text is available yet for this article.
September 2018: Journal of Allergy and Clinical Immunology
Venugopal S Vineeth, Usha R Dutta, Karthik Tallapaka, Aneek Das Bhowmik, Ashwin Dalal
Rett syndrome is a neurodevelopmental disorder affecting the nervous, musculoskeletal and gastroenteric systems. Affected individuals show normal neonatal development for 6-18 months followed by sudden growth arrest, psychomotor retardation and a broad spectrum of clinical features. Sequence variants in MECP2 gene have been identified as the major genetic etiology accounting for 90-95% of patients. Apart from MECP2, pathogenic sequence variants and copy number variants of FOXG1 gene lead to congenital type of Rett syndrome which is a more severe form and characterised by absence of early normal development as seen in classical Rett syndrome...
October 5, 2018: Gene
Maryam Akbari, Vahidreza Ostadmohammadi, Reza Tabrizi, Kamran B Lankarani, Seyed Taghi Heydari, Elaheh Amirani, Russel J Reiter, Zatollah Asemi
OBJECTIVE: This systematic review and meta-analysis of randomized controlled trials (RCTs) was carried out to determine the effect of melatonin supplementation on the inflammatory markers among individuals with metabolic syndrome (MetS) and related disorders. METHODS: We searched the following databases up to March 2018: PubMed, MEDLINE, EMBASE, Web of Science, and Cochrane Central Register of Controlled Trials. Three reviewers independently assessed study eligibility, extracted data, and evaluated risk of bias of included primary studies...
August 2018: Inflammopharmacology
Ravichandra Karkal, Nishant Goyal, Sai Krishna Tikka, Roshan V Khanande, Anil Kakunje, Christoday R J Khess
Background: Sensory gating refers to "filtering" of irrelevant sensory input in the brain. Auditory sensory gating deficit has been considered as a marker of schizophrenia (SCZ) and assessed using P50 paired-click paradigm. We explore sensory gating deficits and their clinical correlates in SCZ. Materials and Methods: Twenty-five drug-free/drug-naïve patients with SCZ, whose psychopathology was assessed using Positive and Negative Syndrome Scale (PANSS), and 25 age-matched normal controls (NC) were recruited...
May 2018: Indian Journal of Psychological Medicine
Oded Shamriz, Bella Shadur, Adeeb NaserEddin, Irina Zaidman, Natalia Simanovsky, Orly Elpeleg, Eitan Kerem, Joel Reiter, Polina Stepensky
Lipopolysaccharide (LPS)-responsive beige-like anchor (LRBA) protein deficiency is a rare syndrome of primary immune deficiency and immune dysregulation. In this study, we sought to summarize our experience with respiratory manifestations in LRBA-deficient patients. We conducted a retrospective analysis of the medical records of LRBA-deficient patients treated at Hadassah-Hebrew University Medical Center, Jerusalem, Israel. Data retrieved included pulmonary workup, disease course, treatment, and outcome. Ten patients were included...
August 2018: European Journal of Pediatrics
Jeannine Roy, Wolf U Blanckenhorn, Patrick T Rohner
Clinal variation in body size and related life history traits is common and has stimulated the postulation of several eco-geographical rules. Whereas some clinal patterns are clearly adaptive, the causes of others remain obscure. We investigated intra-specific body size, development time and female fecundity (egg size and number) clines across 13 European populations of the dung fly Sepsis fulgens spanning 20° latitude from southern Italy to Estonia in a genetic common garden approach. Despite very short generation times (ca...
July 2018: Oecologia
Hao-Ming Li, Ying-Kai Huang, Yuan-Chih Su, Chia-Hung Kao
OBJECTIVE: To investigate the risk of autoimmune diseases in dengue patients. METHODS: We conducted a population-based cohort study by the Taiwan National Health Insurance Research Database, including a total of 12,506 newly diagnosed dengue patients and 112,554 control subjects between 2000 and 2010, matched by gender, age, income, urbanization, and comorbidities. Both cohorts were followed for a 3-year period to examine the incidence of autoimmune diseases. A Cox proportional hazards regression analysis was applied to calculate the risk of autoimmune diseases between both groups...
September 2018: Journal of Infection
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