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rasmussen syndrome

Stine Ostenfeldt Rasmussen, Marianne Boll Kristensen, Irene Wessel, Jens Rikardt Andersen
This study aimed to determine the incidence rates of refeeding phenomena (defined as a decline in p-phosphate) and refeeding syndrome (RFS; defined as development of clinical symptoms in addition to a decline in p-phosphate) in head and neck cancer patients, and to identify risk factors. Fifty-four head and neck cancer patients referred for surgery were included. Forty-six potential risk factors were registered at the baseline, and p-phosphate was measured at Days 2, 4, and 7. Eleven patients (20%) developed RFS, and twenty-eight (52%) developed refeeding phenomena...
September 28, 2016: Nutrition and Cancer
Jørgen Riis Jepsen, Hanna B Rasmussen
BACKGROUND: The metabolic syndrome (MS) represents a cluster of risk factors related to insulin resistance. Metabolic syndrome is a strong risk factor for chronic metabolic and cardiovascular diseases and is related to nutritional factors, sleep patterns, work-related stress, fatigue, and physical activity - all of which are critical issues at sea. We have previously demonstrated a MS prevalence of 24.2% in Danish seafarers. This study aimed to follow the trend of MS after 2 years' intervention...
2016: International Maritime Health
Gabriela Timarova, Iveta Lisa, Peter Kukumberg
Rasmussen's encephalitis is a rare autoimmune encephalitis usually involving one brain hemisphere, presenting with refractory epileptic seizures, and neurological and cognitive decline. Only 10% of cases start later in adolescence/adulthood. The only effective treatment for refractory seizures in childhood is hemispherectomy. For late-onset cases with mild neurological deficit the hemispherectomy is usually postponed because of its severe consequences. Immunotherapy shows some temporal effect for seizure control and slowing the brain atrophy, mainly in late onset Rasmussen's encephalitis...
July 16, 2016: Neuro Endocrinology Letters
Morten Herlin, Anne-Mette Bay Bjørn, Maria Rasmussen, Birgitta Trolle, Michael Bjørn Petersen
STUDY QUESTION: What is the prevalence of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome? SUMMARY ANSWER: The prevalence of MRKH syndrome in Denmark is 1 in 4982 (95% confidence interval (CI): 4216-5887) live female births. WHAT IS KNOWN ALREADY: The prevalence of MRKH syndrome has been estimated to be around 1 in 4000-5000 females. However, population-based prevalence studies of MRKH syndrome are sparse. Moreover, population-based data on patient characteristics are lacking...
October 2016: Human Reproduction
Z I Wang, B Krishnan, D W Shattuck, R M Leahy, A N V Moosa, E Wyllie, R C Burgess, N B Al-Sharif, A A Joshi, A V Alexopoulos, J C Mosher, U Udayasankar, S E Jones
BACKGROUND AND PURPOSE: Rasmussen syndrome, also known as Rasmussen encephalitis, is typically associated with volume loss of the affected hemisphere of the brain. Our aim was to apply automated quantitative volumetric MR imaging analyses to patients diagnosed with Rasmussen encephalitis, to determine the predictive value of lobar volumetric measures and to assess regional atrophy differences as well as monitor disease progression by using these measures. MATERIALS AND METHODS: Nineteen patients (42 scans) with diagnosed Rasmussen encephalitis were studied...
September 8, 2016: AJNR. American Journal of Neuroradiology
Ariadna González-Del Angel, Bernardette Estandía-Ortega, Miguel Angel Alcántara-Ortigoza, Víctor Martínez-Cruz, Diana Judith Gutiérrez-Tinajero, Astrid Rasmussen, Claudia Sofía Gómez-González
Muenke syndrome (MS) is an autosomal dominant coronal craniosynostosis syndrome with variable extracranial anomalies. We studied 56 unrelated patients with non-syndromic uni- or bicoronal craniosynostosi to identify the frequency and clinical characteristics of MS in a cohort of Mexican childrens. The FGFR3 pathogenic variation p.Pro250Arg responsible for MS was characterized in all probands by PCR-restriction assay; available first-degree relatives (15 parents, 5 siblings) of the confirmed p.Pro250Arg carriers were also tested...
August 29, 2016: American Journal of Medical Genetics. Part A
Kate Russell, Sara E Oliver, Lillianne Lewis, Wanda D Barfield, Janet Cragan, Dana Meaney-Delman, J Erin Staples, Marc Fischer, Georgina Peacock, Titilope Oduyebo, Emily E Petersen, Sherif Zaki, Cynthia A Moore, Sonja A Rasmussen
CDC has updated its interim guidance for U.S. health care providers caring for infants born to mothers with possible Zika virus infection during pregnancy (1). Laboratory testing is recommended for 1) infants born to mothers with laboratory evidence of Zika virus infection during pregnancy and 2) infants who have abnormal clinical or neuroimaging findings suggestive of congenital Zika syndrome and a maternal epidemiologic link suggesting possible transmission, regardless of maternal Zika virus test results...
2016: MMWR. Morbidity and Mortality Weekly Report
Sara V Greve, Marie K Blicher, Ruan Kruger, Thomas Sehestedt, Eva Gram-Kampmann, Susanne Rasmussen, Julie K K Vishram, Pierre Boutouyrie, Stephane Laurent, Michael H Olsen
BACKGROUND: Arterial age can be estimated from equations relating arterial stiffness to age and blood pressure in large cohorts. We investigated whether estimated arterial age (eAA) was elevated in patients with the metabolic syndrome and/or known cardiovascular disease (CVD), which factors were associated with eAA and whether eAA added prognostic information. METHODS: In 1993, 2366 study participants, 41, 51, 61, and 71 years old, had traditional cardiovascular risk factors and carotid-femoral pulse wave velocity (cfPWV) measured...
August 10, 2016: Journal of Hypertension
Maria GalveVilla, Bjarne Rittig-Rasmussen, Lene Moeller Schear Mikkelsen, Anne Groendahl Poulsen
INTRODUCTION: Complex regional pain syndrome (CRPS) is a chronic pain condition that can occur after a minor trauma or surgery. It is a multifactorial condition with a complex cause and even more complex pathophysiology. There are disturbances and changes in the sympathetic, somatosensory and motor nervous system, resulting in severe pain and disability. Patients with CRPS can have their quality of life and functional ability greatly affected and they need appropriate and interdisciplinary interventions...
July 18, 2016: Manual Therapy
Brian Appavu, Lisa Vanatta, John Condie, John F Kerrigan, Randa Jarrar
PURPOSE: We aimed to study whether ketogenic diet (KD) therapy leads to resolution of super-refractory status epilepticus in pediatric patients without significant harm. METHOD: A retrospective review was performed at Phoenix Children's Hospital on patients with super-refractory status epilepticus undergoing ketogenic diet therapy from 2011 to 2015. RESULTS: Ten children with super-refractory status epilepticus, ages 2-16 years, were identified...
October 2016: Seizure: the Journal of the British Epilepsy Association
Line K Rasmussen, Elisabeth V Stenbøg, Gitte B Kerndrup, Henrik Hasle
An association between hepatitis and aplastic anemia (AA) is known as hepatitis-associated AA, and is characterized by an acute attack of hepatitis followed by the development of AA. We report 2 clinical cases of acute seronegative hepatitis in which pancytopenia with mild dysplasia developed after 3 months; however, neither of our cases fulfilled the histological criteria of AA, but rather myelodysplastic syndrome. This novel association bears considerable resemblance to hepatitis-associated AA, and raises the question of whether hepatitis-associated dysmyelopoiesis should be included in the spectrum of hypocellular myelodysplastic syndrome...
November 2016: Journal of Pediatric Hematology/oncology
Maria Rasmussen, Else Marie Vestergaard, Jesper Graakjaer, Yanko Petkov, Iben Bache, Christina Fagerberg, Maria Kibaek, Dea Svaneby, Olav Bjørn Petersen, Charlotte Brasch-Andersen, Lone Sunde
17q12 deletions and duplications are two distinct, recurrent chromosomal aberrations usually diagnosed by chromosomal microarray analysis (CMA). The aberrations encompass the genes, HNF1B, LHX1, and ACACA, among others. We here describe a large national cohort of 12 phenotyped patients with 17q12 deletions and 26 phenotyped patients with 17q12 duplications. The total cohort includes 19 index patients and 19 family members. We also reviewed the literature in order to further improve the basis for the counseling...
July 13, 2016: American Journal of Medical Genetics. Part A
Joanna Vitfell-Rasmussen, Ian Judson, Akmal Safwat, Robin L Jones, Philip Blach Rossen, Maja Lind-Hansen, Poul Knoblauch, Anders Krarup-Hansen
Background. Belinostat is a novel histone deacetylase inhibitor. Primary Objectives. Maximum tolerated dose (MTD) and dose limiting toxicities (DLTs) of belinostat (Bel) in combination with doxorubicin (Dox) in solid tumours (phase I) and response rate (RR) in soft tissue sarcomas (phase II). Methods. Bel was administered as a 30-minute IV infusion on days 1-5 and on day 5 with Dox. The dose escalation schedule was as follows: cohort 1: Bel 600 mg/m(2) and 50 mg/m(2) Dox, cohort 2: Bel 600 mg/m(2) and 75 mg/m(2) Dox, cohort 3: Bel 800 mg/m(2) and 75 mg/m(2) Dox, and cohort 4: Bel 1000 mg/m(2) and 75 mg/m(2) Dox...
2016: Sarcoma
Mads Hornum, Bo Feldt-Rasmussen
Following transplantation (TX) of both renal and non-renal organs, a large proportion of patients have renal dysfunction. There are multiple causes for this. Chronic nephrotoxicity and high doses of calcineurin inhibitors are important factors. Preoperative and perioperative factors like hypertension, hypotension, drugs and infections may play a causative role as well. Organ-specific causes include hepatorenal syndrome, cirrhosis, low cardiac function, low respiratory function and diabetes developed both before and after TX...
July 8, 2016: Nephron
Michelle L Joachims, Kerry M Leehan, Christina Lawrence, Richard C Pelikan, Jacen S Moore, Zijian Pan, Astrid Rasmussen, Lida Radfar, David M Lewis, Kiely M Grundahl, Jennifer A Kelly, Graham B Wiley, Mikhail Shugay, Dmitriy M Chudakov, Christopher J Lessard, Donald U Stone, R Hal Scofield, Courtney G Montgomery, Kathy L Sivils, Linda F Thompson, A Darise Farris
CD4(+) T cells predominate in salivary gland (SG) inflammatory lesions in Sjögren's syndrome (SS). However, their antigen specificity, degree of clonal expansion, and relationship to clinical disease features remain unknown. We used multiplex reverse-transcriptase PCR to amplify paired T cell receptor α (TCRα) and β transcripts of single CD4(+)CD45RA(-) T cells from SG and peripheral blood (PB) of 10 individuals with primary SS, 9 of whom shared the HLA DR3/DQ2 risk haplotype. TCRα and β sequences were obtained from a median of 91 SG and 107 PB cells per subject...
June 2, 2016: JCI Insight
Anders Skallerup, Louis Nygaard, Søren Schou Olesen, Lars Vinter-Jensen, Marianne Køhler, Henrik Højgaard Rasmussen
BACKGROUND AND AIMS: Intestinal failure (IF) is a serious and common complication of short bowel syndrome with patients depending on parental nutrition (PN) support. Effective nutrition management requires an accurate estimation of the patient's basal metabolic rate (BMR) to avoid underfeeding or overfeeding. However, indirect calorimetry, considered the gold standard for BMR assessment, is a time- and resource-consuming procedure. Consequently, several equations for prediction of BMR have been developed in different settings, but their accuracy in patients with IF are yet to be investigated...
June 29, 2016: JPEN. Journal of Parenteral and Enteral Nutrition
Sonja A Rasmussen, Amelia K Watson, David L Swerdlow
Since the identification of the first patients with Middle East respiratory syndrome coronavirus (MERS-CoV) in 2012, over 1,600 cases have been reported as of February 2016. Most cases have occurred in Saudi Arabia or in other countries on or near the Arabian Peninsula, but travel-associated cases have also been seen in countries outside the Arabian Peninsula. MERS-CoV causes a severe respiratory illness in many patients, with a case fatality rate as high as 40%, although when contacts are investigated, a significant proportion of patients are asymptomatic or only have mild symptoms...
June 2016: Microbiology Spectrum
Nicole C R McLaughlin, Jason Kirschner, Hallee Foster, Chloe O'Connell, Steven A Rasmussen, Benjamin D Greenberg
OBJECTIVES: Several studies have found impaired response inhibition, measured by a stop-signal task (SST), in individuals who are currently symptomatic for obsessive-compulsive disorder (OCD). The aim of this study was to assess stop-signal reaction time (SSRT) performance in individuals with a lifetime diagnosis of OCD, in comparison to a healthy control group. This is the first study that has examined OCD in participants along a continuum of OCD severity, including approximately half of whom had sub-syndromal symptoms at the time of assessment...
August 2016: Journal of the International Neuropsychological Society: JINS
April L Dawson, Sarah C Tinker, Denise J Jamieson, Charlotte A Hobbs, R J Berry, Sonja A Rasmussen, Marlene Anderka, Kim M Keppler-Noreuil, Angela E Lin, Jennita Reefhuis
BACKGROUND: Twinning has been associated with many types of birth defects, although previous studies have had inconsistent findings. Many studies lack information about potential confounders, particularly use of fertility treatment. Our objective was to assess the association between twinning and birth defects in the National Birth Defects Prevention Study (NBDPS). METHODS: We used data from the NBDPS, a population-based, case-control study of major birth defects in the USA, to evaluate associations between twinning and birth defects...
June 20, 2016: Journal of Epidemiology and Community Health
Huiming Lu, Raghavendra A Shamanna, Guido Keijzers, Roopesh Anand, Lene Juel Rasmussen, Petr Cejka, Deborah L Croteau, Vilhelm A Bohr
The RecQ helicase RECQL4, mutated in Rothmund-Thomson syndrome, regulates genome stability, aging, and cancer. Here, we identify a crucial role for RECQL4 in DNA end resection, which is the initial and an essential step of homologous recombination (HR)-dependent DNA double-strand break repair (DSBR). Depletion of RECQL4 severely reduces HR-mediated repair and 5' end resection in vivo. RECQL4 physically interacts with MRE11-RAD50-NBS1 (MRN), which senses DSBs and initiates DNA end resection with CtIP. The MRE11 exonuclease regulates the retention of RECQL4 at laser-induced DSBs...
June 28, 2016: Cell Reports
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