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Lowe Syndrome

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https://www.readbyqxmd.com/read/29792062/analysis-of-the-blood-viscosity-behavior-in-the-sicilian-study-on-juvenile-myocardial-infarction
#1
Gregorio Caimi, Eugenia Hopps, Maria Montana, Giuseppe Andolina, Caterina Urso, Baldassare Canino, Rosalia Lo Presti
Considering the role of hemorheology in coronary circulation, we studied blood viscosity in patients with juvenile myocardial infarction. We examined whole blood viscosity at high shear rate using the cone-on-plate viscosimeter Wells-Brookfield ½ LVT and at low shear rate employing a viscometer Contraves LS30 in 120 patients (aged <46 years) with myocardial infarction, at the initial stage and subsequently 3 and 12 months after. At the initial stage, patients had an increased whole blood viscosity in comparison to normal controls...
January 1, 2018: Clinical and Applied Thrombosis/hemostasis
https://www.readbyqxmd.com/read/29791908/a-de-novo-kcna1-mutation-in-a-patient-with-tetany-and-hypomagnesemia
#2
Jenny van der Wijst, Martin Konrad, Sjoerd A J Verkaart, Marcin Tkaczyk, Femke Latta, Janine Altmüller, Holger Thiele, Bodo Beck, Karl Peter Schlingmann, Jeroen H F de Baaij
Mutations in the KCNA1 gene encoding the voltage-gated potassium (K+) channel Kv1.1 have been linked to rare neurological syndromes, episodic ataxia type 1 (EA1) and myokymia. In 2009, a KCNA1 mutation was identified in a large family with autosomal dominant hypomagnesemia. Despite efforts in establishing a genotype-phenotype correlation for the wide variety of symptoms in EA1, little is known on the serum magnesium (Mg2+) levels in these patients. In the present study, we describe a new de novo KCNA1 mutation in a Polish patient with tetany and hypomagnesemia...
May 23, 2018: Nephron
https://www.readbyqxmd.com/read/29791666/prevalence-of-polymorphisms-in-the-ankk1-drd2-drd3-genes-and-metabolic-syndrome-in-refractory-schizophrenia
#3
Jeizziani Aparecida Ferreira Pinto, Pedro Henrique Batista de Freitas, Fernanda Daniela Dorneles Nunes, Paulo Afonso Granjeiro, Luciana Lara Dos Santos, Richardson Miranda Machado
OBJECTIVE: to estimate the prevalence of TaqIA, -141C and rs6280 polymorphisms of the ANKK1, DRD2 and DRD3 genes and evaluate their association with the occurrence of metabolic syndrome in patients with refractory schizophrenia. METHOD: cross-sectional study conducted in the Extended Western Region of Minas Gerais, with refractory schizophrenic patients using the antipsychotic clozapine. Sociodemographic, clinical, anthropometric, biochemical and genetic data were collected...
2018: Revista Latino-americana de Enfermagem
https://www.readbyqxmd.com/read/29791178/-rare-combination-of-turner-syndrome-and-congenital-adrenal-hyperplasia-with-21-hydroxylase-deficiency-case-report
#4
Ivana Ságová, Matej Stančík, Dušan Pavai, Daniela Kantárová, Anton Vaňuga, Peter Vaňuga
Combination of Turner syndrome (TS) and classic congenital adrenal hyperplasia (CAH) is rare. Globally, the incidence of CAH, autosomal recessive disorder caused by enzyme defect of steroidogenic pathway, is very low (1 : 10 000-16 000). 90 % of CAH cases are caused by 21-hydroxylase gene mutation (CYP21A2). Globally, the incidencie of Turner syndrome reaches 1 : 2 500. Phenotypically, females with TS may render wide spectrum of clinical features. Dominant symptoms are lowered terminal height and gonadal dysgenesia, ultimately leading to absence of puberty and infertility...
2018: Vnitr̆ní Lékar̆ství
https://www.readbyqxmd.com/read/29790700/early-hypophosphatemia-in-very-low-birth-weight-preterm-infants
#5
REVIEW
Agata Pająk, Barbara Królak-Olejnik, Agnieszka Szafrańska
Refeeding Syndrome (RFS) is a well-known group of symptoms which occur after the introduction of enteral or parenteral nutrition in undernourished patients. Intrauterine growth restriction (IUGR) is the equivalent of postnatal RFS following the beginning of feeding. The aggressive parenteral nutrition of neonates with very low birth weight (VLBW) resulting from the termination of intrauterine transplacental nutrition is a source of biochemical disorders. The aim of this study was to analyze metabolic disorders in preterm infants during the 1st week of life and to determine the hypophosphatemia risk factors in low birth weight neonates receiving parenteral nutrition...
May 21, 2018: Advances in Clinical and Experimental Medicine: Official Organ Wroclaw Medical University
https://www.readbyqxmd.com/read/29790271/correlation-between-neonatal-outcomes-of-twins-depends-on-the-outcome-secondary-analysis-of-twelve-randomised-controlled-trials
#6
Lisa N Yelland, Ewoud Schuit, Javier Zamora, Philippa F Middleton, Arianne C Lim, Anwar H Nassar, Line Rode, Vicente Serra, Elizabeth A Thom, Christophe Vayssière, Ben Wj Mol, Simon Gates
OBJECTIVE: To estimate the magnitude of the correlation between neonatal outcomes of twins and demonstrate how this information can be used in the design of randomised controlled trials (RCTs) in women with twin pregnancies. DESIGN: Secondary analysis of data from 12 RCTs. SETTING: Obstetric care in multiple countries, 2004-2012. POPULATION OR SAMPLE: 4504 twin pairs born to women who participated in RCTs to assess treatments given during pregnancy...
May 22, 2018: BJOG: An International Journal of Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/29790245/p465l-ppar%C3%AE-mutation-confers-partial-resistance-to-the-hypolipidemic-action-of-fibrates
#7
Sergio Rodriguez-Cuenca, Stefania Carobbio, Gwendolyn Barceló-Coblijn, Xavier Prieur, Joana Relat, Ramon Amat, Mark Campbell, Ana Rita Dias, Myriam Bahri, Sarah L Gray, Antonio Vidal-Puig
Familial partial lipodystrophic syndrome 3 (FPLD3) is associated with mutations in the transcription factor PPARγ. One of these mutations, the P467L, confers a dominant negative effect. We and others have previously investigated the pathophysiology associated to this mutation using a humanised mouse model that recapitulates most of the clinical symptoms observed in patients when phenotyped under different experimental conditions. One of the key clinical manifestations observed both, in humans and mouse models, is the ectopic accumulation of fat in the liver...
May 22, 2018: Diabetes, Obesity & Metabolism
https://www.readbyqxmd.com/read/29790126/endocrinopathy-induced-euvolemic-hyponatremia
#8
Talia Diker-Cohen, Benaya Rozen-Zvi, Dana Yelin, Amit Akirov, Eyal Robenshtok, Anat Gafter-Gvili, Daniel Shepshelovich
Euvolemic hyponatremia results from either the syndrome of inappropriate antidiuretic hormone secretion (SIADH), hypothyroidism, or adrenal insufficiency. Furthermore, the criteria for diagnosis of SIADH entail the exclusion of hypothyroidism and hypoadrenalism. We aim to assess the yield of euvolemic hyponatremia workup focusing on underlying endocrinopathies in a real-world setting. A single-center retrospective study includes all patients diagnosed with euvolemic hyponatremia in a tertiary hospital between 1...
May 22, 2018: Internal and Emergency Medicine
https://www.readbyqxmd.com/read/29790110/prevalence-of-hyperuricemia-and-its-associated-factors-in-the-general-korean-population-an-analysis-of-a-population-based-nationally-representative-sample
#9
Yunkyung Kim, Jihun Kang, Geun-Tae Kim
Hyperuricemia is not only a risk factor for gout but also an independent determinant of hypertension, diabetes, and chronic kidney diseases. Although the incidence of gout in Korean adults is increasing, epidemiologic studies on hyperuricemia in the general Korean population are limited. Thus, this study aimed at evaluating the prevalence of hyperuricemia and its associated factors among non-institutionalized Korean adults. The present study included 5548 participants (2403 men and 3145 women) aged ≥ 19 years from The Korea National Health and Nutrition Examination Survey...
May 23, 2018: Clinical Rheumatology
https://www.readbyqxmd.com/read/29789934/induction-prednisone-dosing-for-childhood-nephrotic-syndrome-how-low-should-we-go
#10
Matthew Sibley, Abishek Roshan, Alanoud Alshami, Marisa Catapang, Jasper J Jöbsis, Trevor Kwok, Nonnie Polderman, Jennifer Sibley, Douglas G Matsell, Cherry Mammen
BACKGROUND: Historically, children with nephrotic syndrome (NS) across British Columbia (BC), Canada have been cared for without formal standardization of induction prednisone dosing. We hypothesized that local historical practice variation in induction dosing was wide and that children treated with lower doses had worse relapsing outcomes. METHODS: This retrospective cohort study included 92 NS patients from BC Children's Hospital (1990-2010). We excluded secondary causes of NS, age < 1 year at diagnosis, steroid resistance, and incomplete induction due to early relapse...
May 22, 2018: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/29789855/how-does-scorten-score
#11
Sarah Zavala, Megan O'Mahony, Cara Joyce, Anthony J Baldea
The Toxic Epidermal Necrolysis-specific severity of illness score (SCORTEN) was developed to predict mortality in patients with Stevens Johnson syndrome/toxic epidermal necrolysis (SJS/TEN). Several studies have attempted to assess the accuracy of SCORTEN with mixed results. The objective of this study is to compare the predicted and actual mortality for patients with SJS/TEN admitted to a single high-volume burn center.This retrospective study included adult and pediatric patients admitted to our burn center with biopsy-confirmed SJS/TEN between February 2008 and February 2016...
December 4, 2017: Journal of Burn Care & Research: Official Publication of the American Burn Association
https://www.readbyqxmd.com/read/29789639/fludarabine-and-neurotoxicity-in-engineered-t-cell-therapy
#12
Kate L Lowe, Crystal L Mackall, Elliot Norry, Rafael Amado, Bent K Jakobsen, Gwendolyn Binder
Adoptive T-cell therapy, incorporating engineered T cell receptors (TCRs) or chimeric antigen receptors (CARs), target tumor antigens with high affinity and specificity. To increase the potency of adoptively transferred T cells, patients are conditioned with lymphodepleting chemotherapy regimens prior to adoptive T-cell transfer (ACT), and data suggest that fludarabine is an important component of an effective regimen. In a recent clinical trial using CAR-T cells engineered to target the CD19 B-cell antigen to treat acute lymphoblastic leukemia, JCAR-015 (NCT02535364), two patient deaths due to cerebral edema led to trial suspension...
May 7, 2018: Gene Therapy
https://www.readbyqxmd.com/read/29789537/detection-of-japanese-encephalitis-virus-rna-in-human-throat-samples-in-laos-a-pilot-study
#13
Tehmina Bharucha, Onanong Sengvilaipaseuth, Malee Seephonelee, Malavanh Vongsouvath, Manivanh Vongsouvath, Sayaphet Rattanavong, Géraldine Piorkowski, Marc Lecuit, Christopher Gorman, Jean-David Pommier, Paul N Newton, Xavier de Lamballerie, Audrey Dubot-Pérès
Japanese encephalitis virus (JEV) is the most commonly identified cause of acute encephalitis syndrome (AES) in Asia. The WHO recommended test is anti-JEV IgM-antibody-capture-enzyme-linked-immunosorbent-assay (JEV MAC-ELISA). However, data suggest this has low positive predictive value, with false positives related to other Flavivirus infections and vaccination. JEV RT-PCR in cerebrospinal fluid (CSF) and/or serum is highly specific, but is rarely positive; 0-25% of patients that fulfil the WHO definition of JE (clinical Acute Encephalitis Syndrome (AES) and JEV MAC-ELISA positive)...
May 22, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29789184/infused-cardioplegia-index-a-new-tool-to-improve-myocardial-protection-a-cohort-study
#14
J J Jiménez Rivera, C Llanos Jorge, J L Iribarren Sarrías, M Brouard Martín, J Lacalzada Almeida, J L Pérez Vela, R Avalos Pinto, R Pérez Hernández, S Ramos de la Rosa, G Yanes Bowden, R Martínez Sanz
BACKGROUND: Strategies for cardio-protection are essential in coronary artery bypass graft surgery. The authors explored the relationship between cardioplegia volume, left ventricular mass index and ischemia time by means of the infused cardioplegia index and its relationship with post-operative low cardiac output syndrome. DESIGN: All patients undergoing coronary artery bypass graft surgery between January 2013 and December 2015 were included. Low cardiac output syndrome was defined according to criteria of the SEMICYUC's consensus document...
May 19, 2018: Medicina Intensiva
https://www.readbyqxmd.com/read/29788984/f-18-fdg-pet-ct-in-26-patients-with-sapho-syndrome-a-new-vision-of-clinical-and-bone-scintigraphy-correlation
#15
Xiaochuan Sun, Chen Li, Yihan Cao, Ximin Shi, Li Li, Weihong Zhang, Xia Wu, Nan Wu, Hongli Jing, Wen Zhang
BACKGROUNDS: Whole-body bone scintigraphy (WBBS) and MRI are widely used in assessment of patients with synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome. However, the value of F-18 fluorodeoxyglucose-positron emission tomography/computed tomography (18 F-FDG PET/CT) in SAPHO syndrome was unclear. The aim of this study was to characterize the manifestation of SAPHO syndrome on 18 F-FDG PET/CT and explore its relationship with clinical symptoms and WBBS. METHODS: Twenty-six patients who suffered from SAPHO syndrome and had undergone whole-body 18 F-FDG PET/CT were recruited in Peking Union Medical College Hospital from 2004 to 2016...
May 22, 2018: Journal of Orthopaedic Surgery and Research
https://www.readbyqxmd.com/read/29788453/myofascial-findings-and-psychopathological-factors-in-patients-with-chronic-pelvic-pain-syndrome
#16
Susanne G R Klotz, Gesche Ketels, Bernd Löwe, Christian A Brünahl
Objective: Chronic pelvic pain syndrome (CPPS) is a common pain condition with psychosocial and somatic symptoms. Myofascial findings and psychiatric comorbidities are frequent. Therefore, the aim of the study was to analyze myofascial and psychosocial aspects. Furthermore, the study focuses on correlations between these aspects and gender differences in this topic. Design: Cross-sectional study. Setting: Interdisciplinary outpatient clinic for patients with CPPS at the University Medical Centre Hamburg-Eppendorf, Germany...
May 19, 2018: Pain Medicine: the Official Journal of the American Academy of Pain Medicine
https://www.readbyqxmd.com/read/29787477/metabolic-syndrome-and-its-components-in-premenopausal-and-postmenopausal-women-a-comprehensive-systematic-review-and-meta-analysis-on-observational-studies
#17
Jamal Hallajzadeh, Maliheh Khoramdad, Neda Izadi, Nahid Karamzad, Amir Almasi-Hashiani, Erfan Ayubi, Mostafa Qorbani, Reza Pakzad, Amir Hasanzadeh, Mark J M Sullman, Saeid Safiri
OBJECTIVES: To perform a meta-analysis on the global prevalence of metabolic syndrome (MetS) in postmenopausal women. The meta-analysis also sought to measure the relationship menopause status has with MetS and its components. METHODS: The Web of Science, Medline, PubMed, Scopus, Embase, CINAHL, DOAJ, and Google Scholar were all searched using the relevant keywords. Articles published during the period 2004 to 2017 that met our inclusion criteria and reported the prevalence of MetS among premenopausal and postmenopausal women were included...
May 21, 2018: Menopause: the Journal of the North American Menopause Society
https://www.readbyqxmd.com/read/29787442/epidemiology-of-late-health-effects-in-ukrainian-chornobyl-cleanup-workers
#18
Dimitry Bazyka, Anatoly Prysyazhnyuk, Natalya Gudzenko, Iryna Dyagil, David Belyi, Vadim Chumak, Volodymyr Buzunov
This article summarizes the results of 30 y of follow-up of cancer and noncancer effects in Ukrainian cleanup workers after the Chornobyl accident. The number of power plant employees and first responders with acute radiation syndrome under follow-up by the National Research Center for Radiation Medicine decreased from 179 in 1986-1991 to 105 in 2011-2015. Cancers and leukemia (19) and cardiovascular diseases (21) were the main causes of deaths among acute radiation syndrome survivors (54) during the postaccident period...
July 2018: Health Physics
https://www.readbyqxmd.com/read/29787390/genitourinary-syndrome-of-menopause
#19
Jan L Shifren
Genitourinary syndrome of menopause (GSM) describes a collection of exam findings and bothersome symptoms associated with estrogen deficiency involving changes to the labia, introitus, clitoris, vagina, urethra, and bladder. Vulvovaginal atrophy is a component of GSM. GSM is a highly prevalent medical condition with adverse effects on the health and quality of life of midlife women. There are many effective treatment options, including nonhormonal lubricants and moisturizers, physical therapy, low-dose vaginal estrogen therapy, vaginal dehydroepiandrosterone, and oral ospemifene...
May 21, 2018: Clinical Obstetrics and Gynecology
https://www.readbyqxmd.com/read/29787362/j-pouch-imaging-findings-surgical-variations-natural-history-and-common-complications
#20
Joshua D Reber, John M Barlow, Amy L Lightner, Shannon P Sheedy, David H Bruining, Christine O Menias, Joel G Fletcher
Ileal pouch-anal anastomosis, or J pouch, surgery has become the procedure of choice for treatment of medically refractory ulcerative colitis and familial adenomatous polyposis. Overall, this operation is associated with a low rate of postoperative morbidity and good long-term function. However, when complications develop, there is a heavy reliance on imaging to facilitate an accurate diagnosis. Reported postoperative complication rates range from 5% to 35%. Complications generally can be categorized as structural, inflammatory, or neoplastic conditions...
May 25, 2018: Radiographics: a Review Publication of the Radiological Society of North America, Inc
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