keyword
MENU ▼
Read by QxMD icon Read
search

combination syndrom

keyword
https://www.readbyqxmd.com/read/29793125/assessment-of-cam-morphology-of-the-hip-with-ultra-sound-imaging-by-physical-therapists-is-reliable-and-valid
#1
Liliane Mandema, Igor Tak, Brigitte Mooij, Ruud Groeneweg, Eric Bakker, Peter van Veldhoven
BACKGROUND: Femoroacetabular impingement syndrome is considered present when a combination of clinical symptoms, signs and morphological features of the hip co-exist. Imaging is increasingly popular in primary health care settings with physical therapists performing ultrasound (US). OBJECTIVE: The aim of this study was to assess the diagnostic accuracy and inter-rater reliability of ultrasound in determining presence of cam morphology. DESIGN: A concurrent validity and inter-rater reliability study...
April 14, 2018: Physical Therapy in Sport
https://www.readbyqxmd.com/read/29792283/repurposing-available-drugs-for-neurodevelopmental-disorders-the-fragile-x-experience
#2
REVIEW
Michael R Tranfaglia, Clare Thibodeaux, Daniel J Mason, David Brown, Ian Roberts, Richard Smith, Tim Guilliams, Patricia Cogram
Many available drugs have been repurposed as treatments for neurodevelopmental disorders. In the specific case of fragile X syndrome, many clinical trials of available drugs have been conducted with the goal of disease modification. In some cases, detailed understanding of basic disease mechanisms has guided the choice of drugs for clinical trials, and several notable successes in fragile X clinical trials have led to common use of drugs such as minocycline in routine medical practice. Newer technologies like Disease-Gene Expression Matching (DGEM) may allow for more rapid identification of promising repurposing candidates...
May 4, 2018: Neuropharmacology
https://www.readbyqxmd.com/read/29792096/neonatal-outcome-in-preterm-deliveries-before-34-week-gestation-the-influence-of-the-mechanism-of-labor-onset
#3
Sara Pinto, Maria Filipa Malheiro, Ana Vaz, Teresa Rodrigues, Nuno Montenegro, Hercília Guimarães
PURPOSE: To evaluate neonatal outcomes in preterm infants with less than 34 weeks after spontaneous labor, preterm premature rupture of membranes (PPROM) or iatrogenic delivery and to clarify whether the mechanism of labor onset is a risk factor for adverse short-term neonatal outcome. METHODS: We performed a retrospective case-control study, which included 266 preterm newborns with less than 34-week gestation, between 2011 and 2015. Neonatal outcomes were compared according to the mechanism of labor onset...
May 23, 2018: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/29791652/inflammatory-myopathy-in-the-context-of-an-unusual-overlapping-laminopathy
#4
Cristina Guillín-Amarelle, Sofía Sánchez-Iglesias, Antonio Mera, Elena Pintos, Ana Castro-Pais, Leticia Rodríguez-Cañete, Julio Pardo, Felipe F Casanueva, David Araújo-Vilar
Laminopathies are genetic disorders associated with alterations in nuclear envelope proteins, known as lamins. The LMNA gene encodes lamins A and C, and LMNA mutations have been linked to diseases involving fat (type 2 familial partial lipodystrophy [FPLD2]), muscle (type 2 Emery-Dreifuss muscular dystrophy [EDMD2], type 1B limb-girdle muscular dystrophy [LGMD1B], and dilated cardiomyopathy), nerves (type 2B1 Charcot-Marie-Tooth disease), and premature aging syndromes. Moreover, overlapping syndromes have been reported...
May 17, 2018: Archives of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29791480/complex-interactions-in-a-novel-scn5a-compound-mutation-associated-with-long-qt-and-brugada-syndrome-implications-for-na-channel-blocking-pharmacotherapy-for-de-novo-conduction-disease
#5
Jie Liu, Jason D Bayer, Roozbeh Aschar-Sobbi, Marianne Wauchop, Danna Spears, Michael Gollob, Edward J Vigmond, Robert Tsushima, Peter H Backx, Vijay S Chauhan
BACKGROUND: The SCN5A mutation, P1332L, is linked to a malignant form of congenital long QT syndrome, type 3 (LQT3), and affected patients are highly responsive to the Na+ channel blocking drug, mexiletine. In contrast, A647D is an atypical SCN5A mutation causing Brugada syndrome. An asymptomatic male with both P1332L and A647D presented with varying P wave/QRS aberrancy and mild QTc prolongation which did not shorten measurably with mexiletine. OBJECTIVE: We characterized the biophysical properties of P1332L, A647D and wild-type (WT) Na+ channels as well as their combinations in order to understand our proband's phenotype and to guide mexilitine therapy...
2018: PloS One
https://www.readbyqxmd.com/read/29791178/-rare-combination-of-turner-syndrome-and-congenital-adrenal-hyperplasia-with-21-hydroxylase-deficiency-case-report
#6
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/29790481/antiviral-combination-therapy-for-cytomegalovirus-infection-in-high-risk-infants
#7
Surabhi B Vora, Adam W Brothers, Alpana Waghmare, Janet A Englund
BACKGROUND: Cytomegalovirus (CMV) infection is a major risk factor for mortality in infants with severe combined immunodeficiency (SCID) and other profound immune defects. Specific antiviral therapy must be initiated early and aggressively because of the potential for antiviral resistance, rapid dissemination and poor transplant outcomes. Combination antiviral therapy is routinely administered for some viral infections, but the value of this approach for the treatment of CMV is unclear...
May 23, 2018: Antiviral Therapy
https://www.readbyqxmd.com/read/29789566/transcriptome-analysis-of-the-adult-human-klinefelter-testis-and-cellularity-matched-controls-reveals-disturbed-differentiation-of-sertoli-and-leydig-cells
#8
Sofia Boeg Winge, Marlene Danner Dalgaard, Kirstine G Belling, Jacob Malte Jensen, John Erik Nielsen, Lise Aksglaede, Mikkel Heide Schierup, Søren Brunak, Niels Erik Skakkebæk, Anders Juul, Ewa Rajpert-De Meyts, Kristian Almstrup
The most common human sex chromosomal disorder is Klinefelter syndrome (KS; 47,XXY). Adult patients with KS display a diverse phenotype but are nearly always infertile, due to testicular degeneration at puberty. To identify mechanisms causing the selective destruction of the seminiferous epithelium, we performed RNA-sequencing of 24 fixed paraffin-embedded testicular tissue samples. Analysis of informative transcriptomes revealed 235 differentially expressed transcripts (DETs) in the adult KS testis showing enrichment of long non-coding RNAs, but surprisingly not of X-chromosomal transcripts...
May 22, 2018: Cell Death & Disease
https://www.readbyqxmd.com/read/29789537/detection-of-japanese-encephalitis-virus-rna-in-human-throat-samples-in-laos-a-pilot-study
#9
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/29788902/dystonia-deafness-syndrome-caused-by-actb-p-arg183trp-heterozygosity-shows-striatal-dopaminergic-dysfunction-and-response-to-pallidal-stimulation
#10
Inger Marie Skogseid, Oddveig Røsby, Ane Konglund, James P Connelly, Bård Nedregaard, Greg Eigner Jablonski, Nadja Kvernmo, Asbjørg Stray-Pedersen, Joel C Glover
BACKGROUND: Dystonia-deafness syndrome is a well-known clinical entity, with sensorineural deafness typically manifesting earlier than dystonia. ACTB p.Arg183Trp heterozygosity has been reported in six patients to cause combined infant-onset deafness and dystonia manifesting in adolescence or young adulthood. Three of these have received beneficial pallidal stimulation. Brain imaging to assess striatal function has not been reported previously, however. Nor has a comprehensive hypothesis been presented for how the pleiotropic manifestations of this specific beta-actin gene mutation originate developmentally...
May 22, 2018: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/29788534/prospective-evaluation-of-68-ga-dotatate-pet-ct-in-limited-disease-neuroendocrine-tumors-and-or-elevated-serum-neuroendocrine-biomarkers
#11
Sophie Gabriel, Philippe Garrigue, Laetitia Dahan, Frédéric Castinetti, Frédéric Sebag, Karine Baumstark, Cendrine Archange, Jha Abhishek, Karel Pacak, Benjamin Guillet, David Taïeb
CONTEXT: The 68 Ga-labelled somatostatin analogues (68 Ga-DOTA-SSAs) is becoming popular as an important diagnostic tool in neuroendocrine tumors as evidenced by a growing number of reports detailing institutional experience with various DOTA peptides. However, only few prospective studies have compared 68 Ga-DOTA-SSAs and somatostatin receptor scintigraphy (SRS) in gastroenteropancreatic neuroendocrine tumors (GEP-NETs) and pulmonary neuroendocrine tumors. OBJECTIVE: The aim of our prospective study was to perform head-to-head comparison between 68 Ga-DOTATATE PET/CT and standard imaging work-up (SI) that included multiphasic CT, liver MRI, and SRS using single photon emission computed tomography...
May 22, 2018: Clinical Endocrinology
https://www.readbyqxmd.com/read/29788076/histological-and-molecular-adipose-tissue-changes-are-related-to-metabolic-syndrome-rather-than-lipodystrophy-in-hiv-infected-patients-a-cross-sectional-study
#12
Anne Langkilde, Juliette Tavenier, Allan Vestergaard Danielsen, Jesper Eugen-Olsen, Christina Therkildsen, Frank Krieger Jensen, Jens Henrik Henriksen, Henning Langberg, Torben Steiniche, Janne Petersen, Susanne Holck, Ove Andersen
Background: In HIV-infected patients on combination antiretroviral therapy (cART), lipodystrophy shares many similarities with metabolic syndrome, but only metabolic syndrome has objective classification criteria. We examined adipose tissue changes related to lipodystrophy and metabolic syndrome to clarify whether it may be acceptable to focus diagnosis on metabolic syndrome rather than lipodystrophy. Methods: A cross-sectional study of 60 HIV-infected men on cART and 15 healthy men...
May 17, 2018: Journal of Infectious Diseases
https://www.readbyqxmd.com/read/29787754/different-players-generate-positive-responses-in-two-in-vitro-cytokine-assay-formats-with-aqueous-and-immobilized-tgn1412-analog
#13
Yoshika Iwata, Asako Harada, Chiyomi Kubo, Tomoaki Inoue, Mitsuyasu Tabo, Masayuki Mishima
To detect potential risk of severe cytokine release syndrome, in vitro assay formats with human cells have been developed. The two major testing platforms are a combination of whole blood with aqueous-phase test articles (whole blood cytokine assay, WBCA) and peripheral blood mononuclear cells with solid-phase articles (PBMC assay). Significant induction of cytokines was seen in both assays after treatment with a widely used control agent, TGN1412 or its analog CD28SA, but the WBCA cytokine profile differed from what was expected from clinical experience...
May 19, 2018: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/29787442/epidemiology-of-late-health-effects-in-ukrainian-chornobyl-cleanup-workers
#14
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/29787415/cooccurrence-of-post-intensive-care-syndrome-problems-among-406-survivors-of-critical-illness
#15
Annachiara Marra, Pratik P Pandharipande, Timothy D Girard, Mayur B Patel, Christopher G Hughes, James C Jackson, Jennifer L Thompson, Rameela Chandrasekhar, Eugene Wesley Ely, Nathan E Brummel
OBJECTIVES: To describe the frequency of cooccurring newly acquired cognitive impairment, disability in activities of daily livings, and depression among survivors of a critical illness and to evaluate predictors of being free of post-intensive care syndrome problems. DESIGN: Prospective cohort study. SETTING: Medical and surgical ICUs from five U.S. centers. PATIENTS: Patients with respiratory failure or shock, excluding those with preexisting cognitive impairment or disability in activities of daily livings...
May 21, 2018: Critical Care Medicine
https://www.readbyqxmd.com/read/29786683/-the-application-of-kinesiotaping-for-the-rehabilitation-of-the-post-stroke-patients
#16
V I Berezutsky
This review of the scientific literature was designed to consider the prospects for the application of kinesiotaping for the rehabilitation of the post-stroke patients. The relevance of the work arises from the absence of a systemic analysis of the large number of investigations that have been carried out during the past two years. The objective of the present review article was to evaluate the influence of kinesiotaping on the health status of the post-stroke patients and the course of their rehabilitative treatment based on the results of analysis of the scientific reports published during the period from 2015 to 2017...
May 21, 2018: Voprosy Kurortologii, Fizioterapii, i Lechebnoĭ Fizicheskoĭ Kultury
https://www.readbyqxmd.com/read/29786677/-combined-rehabilitation-in-the-patients-presenting-with-dorsopathies-of-the-lumbar-spine-and-concomitant-irritable-bowel-syndrome-based-at-a-therapeutic-clinic
#17
E V Sevostyanova, Y A Nikolaev, N V Bogdankevich, V G Lusheva, N A Dolgova, V Y Polyakov
BACKGROUND: Comorbidity constitutes a serious challenge for rehabilitative medicine. The comorbidity of the dorsopathy of the lumbar spine and irritable bowel syndrome mutually complicates the clinical course of both conditions, significantly reduces the patients' quality of life. and increases the costs of diagnostic procedures and restoration of the working capacity. The approaches to the non-pharmacological management of the patients presenting with these diseases remain to be developed...
May 21, 2018: Voprosy Kurortologii, Fizioterapii, i Lechebnoĭ Fizicheskoĭ Kultury
https://www.readbyqxmd.com/read/29786049/lipoxin-a4-ameliorates-lipopolysaccharide-induced-a549-cell-injury-through-upregulation-of-n-myc-downstream-regulated-gene-1
#18
Jun-Zhi Zhang, Zhan-Li Liu, Yao-Xian Zhang, Hai-Jiu Lin, Zhong-Jun Zhang
Background: Lipoxin A4 (LXA4) can alleviate lipopolysaccharide (LPS)-induced acute lung injury (ALI) and acute respiratory distress syndrome through promoting epithelial sodium channel (ENaC) expression in lung epithelial cells. However, how LXA4 promote ENaC expression is still largely elusive. The present study aimed to explore genes and signaling pathway involved in regulating ENaC expression induced by LXA4. Methods: A549 cells were incubated with LPS and LXA4, or in combination, and analyzed by quantitative real-time polymerase chain reaction (qRT-PCR) of ENaC-α/γ...
June 5, 2018: Chinese Medical Journal
https://www.readbyqxmd.com/read/29785700/the-association-between-circulating-irisin-levels-and-different-phenotypes-of-polycystic-ovary-syndrome
#19
L Zhang, X Fang, L Li, R Liu, C Zhang, H Liu, M Tan, G Yang
PURPOSE: The diagnosis of polycystic ovary syndrome (PCOS) is based on a combination of various clinical phenotypes in each patient. However, insulin resistance (IR) and dysmetabolism are not included in the diagnostic criteria of PCOS. Therefore, the definition of PCOS is controversial. The objective of this study is to investigate whether some PCOS phenotypes can be predicted by a circulating biomarker related to IR and metabolic dysfunction in PCOS women. METHODS: One hundred and seventeen women with PCOS and 95 healthy women were recruited for this study...
May 21, 2018: Journal of Endocrinological Investigation
https://www.readbyqxmd.com/read/29785676/asymmetry-of-the-greater-cornua-of-the-hyoid-bone-and-the-superior-thyroid-cornua-a-case-report
#20
Miroslav Radunovic, Batric Vukcevic, Nemanja Radojevic
The hyoid bone consists of a body and two pairs of processes: the greater cornua (GC) and the lesser cornua. The GC is connected to the superior thyroid cornu (STC) by the lateral thyrohyoid ligament. The GC and the STC share a common embryological origin from the third pharyngeal arch. During anatomical dissection of a male cadaver of 56 years of age, a combined variation of the GC and the STC was found. The left GC was 27.7 mm long, and the right GC was 30 mm long. The left GC axis was in the same plane as the hyoid body, while an angle of 33° was between the right GC axis and the hyoid body plane...
May 21, 2018: Surgical and Radiologic Anatomy: SRA
keyword
keyword
92350
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"