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https://www.readbyqxmd.com/read/28102624/partial-monosomy-of-10p-and-duplication-of-another-chromosome-in-two-patients
#1
Sayaka Ohta, Tsuyoshi Isojima, Yoko Mizuno, Motohiro Kato, Masakazu Mimaki, Masafumi Seki, Yusuke Sato, Seishi Ogawa, Junko Takita, Sachiko Kitanaka, Akira Oka
Partial monosomy of 10p is a rare chromosomal abnormality. Common features are hypoparathyroidism, deafness, renal anomalies, distinctive facies, and mental retardation, with phenotypic variability. We report two patients with chromosomal abnormalities identified on single-nucleotide polymorphism (SNP) array analysis. Although patient 1 had common features of monosomy10p, G-banding indicated a normal karyotype. SNP array and fluorescence in situ hybridization (FISH), however, indicated unbalanced translocation of a 10p terminal deletion of 11...
January 2017: Pediatrics International: Official Journal of the Japan Pediatric Society
https://www.readbyqxmd.com/read/28102622/successful-surgical-management-of-congenital-kasabach-merritt-syndrome
#2
Sébastien Pascal, Quentin Bettex, Nicolas Andre, Philippe Petit, Dominique Casanova, Nathalie Degardin
Since the first description of Kasabach-Merritt syndrome (KMS) in 1940, many treatments have been proposed combining pharmacologic and non-pharmacologic approaches, which can be effective on the pathology but can have adverse and unpredictable side-effects with long-term use. Herein we describe the solely surgical treatment of Kasabach-Merritt syndrome in a neonate with a severe and rapidly progressive thrombocytopenia. The patient's condition normalized at 7 days postoperatively, with rapid increase in platelet count and normalization of d-dimer concentration...
January 2017: Pediatrics International: Official Journal of the Japan Pediatric Society
https://www.readbyqxmd.com/read/28102552/could-urinary-nerve-growth-factor-be-a-biomarker-for-overactive-bladder%C3%A2-a-meta-analysis
#3
REVIEW
Wei Sheng, Hongwei Zhang, Kirschner-Hermanns Ruth
OBJECTIVE: The previously reported association between urinary nerve growth factor (NGF) and overactive bladder (OAB) was controversial. We performed this meta-analysis based on current available studies to sum up all evidence on this association. METHODS: Studies were identified by searching PubMed, Embase, and Cochrane library from inception to September 2016. Pooled standardized mean difference (SMD) with their corresponding 95% confidence intervals (CIs) were calculated using a random-effects model...
January 19, 2017: Neurourology and Urodynamics
https://www.readbyqxmd.com/read/28101592/long-term-safety-and-outcome-of-fludarabine-cyclophosphamide-and-mitoxantrone-fcm-regimen-in-previously-untreated-patients-with-advanced-follicular-lymphoma-12%C3%A2-years-follow-up-of-a-phase-2-trial
#4
Laura Magnano, Silvia Montoto, Eva González-Barca, Javier Briones, Juan Manuel Sancho, Ana Muntañola, Antonio Salar, Joan Besalduch, Lourdes Escoda, Carol Moreno, Eva Domingo-Domenech, Cristina Estany, Albert Oriol, Albert Altés, Carmen Pedro, Santiago Gardella, Antoni Asensio, Pilar Vivancos, Alberto Fernández de Sevilla, Josep María Ribera, Dolors Colomer, Elias Campo, Armando López-Guillermo
Fludarabine combinations are very affective in follicular lymphoma (FL) with high rates of complete response and prolonged survival. However, late toxicities could be a concern. The aim of the present study was to analyze the long-term impact on survival, relapse and late toxicities of a trial of treatment with fludarabine, mitoxantrone and cyclophosphamide (FCM regimen) for untreated patients with advanced stage FL. One hundred and twenty patients enrolled in a phase 2 trial of treatment with FCM regimen between 2000 and 2003 were evaluated...
January 18, 2017: Annals of Hematology
https://www.readbyqxmd.com/read/28101450/hyponatremic-hypertensive-syndrome-a-retrospective-cohort-study
#5
Devdeep Mukherjee, Rajiv Sinha, Md Shakil Akhtar, Agni Sekhar Saha
AIM: To ascertain the frequency of hyponatremic hypertensive syndrome (HHS) in a cohort of children with hypertensive emergency in a tertiary pediatric hospital. METHODS: A retrospective review was undertaken among children with hypertensive emergency admitted in our tertiary children hospital between June 2014 and December 2015 with an aim to identify any children with HHS. Three children with HHS were identified during this period. RESULTS: The 3 patients with HHS presented with hypertensive emergency...
January 6, 2017: World Journal of Nephrology
https://www.readbyqxmd.com/read/28101446/hypertonicity-clinical-entities-manifestations-and-treatment
#6
REVIEW
Helbert Rondon-Berrios, Christos Argyropoulos, Todd S Ing, Dominic S Raj, Deepak Malhotra, Emmanuel I Agaba, Mark Rohrscheib, Zeid J Khitan, Glen H Murata, Joseph I Shapiro, Antonios H Tzamaloukas
Hypertonicity causes severe clinical manifestations and is associated with mortality and severe short-term and long-term neurological sequelae. The main clinical syndromes of hypertonicity are hypernatremia and hyperglycemia. Hypernatremia results from relative excess of body sodium over body water. Loss of water in excess of intake, gain of sodium salts in excess of losses or a combination of the two are the main mechanisms of hypernatremia. Hypernatremia can be hypervolemic, euvolemic or hypovolemic. The management of hypernatremia addresses both a quantitative replacement of water and, if present, sodium deficit, and correction of the underlying pathophysiologic process that led to hypernatremia...
January 6, 2017: World Journal of Nephrology
https://www.readbyqxmd.com/read/28101150/promising-effects-of-chinese-traditional-treatment-for-child-typhoid-complicated-by-myocarditis
#7
Jing Tian, Xinjiang An, Mingyu Fu, Qingwen Wang
The clinical effects were compared and analyzed of traditional Chinese medicine (TCM) 'Ling Gui Long Mu soup' combined with the conventional Western medications in treating child typhoid complicated by myocarditis. From July, 2010 to May, 2014, 54 children suffering from typhoid complicated by myocarditis were enrolled in the present study. The patients were divided into the observation and control groups (n=27 cases per group) according to the random number table. Patients in the observation group were treated with basic Western medicine combined with TCM 'Ling Gui Long Mu soup' while patients in the control group were treated only with Western medicine...
December 2016: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/28100023/frontotemporal-lobar-degeneration-pathogenesis-pathology-and-pathways-to-phenotype
#8
REVIEW
David Ma Mann, Julie S Snowden
Frontotemporal Lobar Degeneration (FTLD) is a clinically, pathologically and genetically heterogeneous group of disorders that affect principally the frontal and temporal lobes of the brain. There are three major associated clinical syndromes, behavioural variant frontotemporal dementia (bvFTD), semantic dementia (SD) and progressive non-fluent aphasia (PNFA); three principal histologies, involving tau, TDP-43 and FUS proteins; and mutations in three major genes, MAPT, GRN and C9orf72, along with several other less common gene mutations...
January 18, 2017: Brain Pathology
https://www.readbyqxmd.com/read/28099367/antiphospholipid-syndrome-associated-with-combined-immune-checkpoint-inhibitor-therapy
#9
Arjun Gupta, Udayan Shah, Htet Khine, Travis Vandergriff, Thomas Froehlich
No abstract text is available yet for this article.
January 17, 2017: Melanoma Research
https://www.readbyqxmd.com/read/28099273/making-the-most-of-hypomethylating-agents-in-myelodysplastic-syndrome
#10
Geetika Bhatt, William Blum
PURPOSE OF REVIEW: Hypomethylating agents (HMA) are the preferred therapy for patients with higher risk myelodysplastic syndromes (MDS) and an alternative therapeutic strategy for older patients with acute myeloid leukemia. These agents have improved both survival and quality of life, but results overall remain poor. The purpose of this review is to highlight recent developments in clinical research with HMA in MDS/acute myeloid leukemia over the last year. RECENT FINDINGS: Combination of HMA with B-cell lymphoma-2 inhibitors, hedgehog inhibitors, and a variety of other agents are underway, as are further studies with reformulated HMA that have more favorable pharmacokinetics (including oral bioavailability)...
January 17, 2017: Current Opinion in Hematology
https://www.readbyqxmd.com/read/28099077/disease-complexity-in-a-declining-alaskan-muskox-ovibos-moschatus-population
#11
Josephine A Afema, Kimberlee B Beckmen, Stephen M Arthur, Kathy Burek Huntington, Jonna A K Mazet
The muskox ( Ovibos moschatus ) population inhabiting the eastern North Slope (ENS) of Alaska declined dramatically during 1999-2006, whereas populations in western Alaska (WA) were stable or increasing. To understand morbidity and mortality factors contributing to the decline, Alaska Department of Fish and Game conducted pathologic investigations of carcasses from 2005 until 2008. Additionally, archived sera from both ENS and WA muskoxen collected during 1984-1992, before the documented beginning of the ENS decline; sera collected during 2000, near the beginning of the decline; and contemporary sera (from live capture-release, adult females) collected during 2006, 2007, and 2008 were analyzed to determine whether prevalence of antibody to potential pathogens differed in the two areas or changed over time...
January 18, 2017: Journal of Wildlife Diseases
https://www.readbyqxmd.com/read/28098116/membranous-glomerulopathy-and-massive-cervical-lymphadenopathy-due-to-immunoglobulin-g4-disease
#12
Kamel El-Reshaid, Shaikha Al-Bader, John Madda
A 32-year-old male presented with acute and severe nephrotic syndrome as well as massive right cervical lymphadenopathy for <2 years. Computed tomography scan of the chest, abdomen, and pelvis did not reveal any lymphadenopathy. Histopathology and immunohistochemical testing of his lymph node biopsy showed infiltrate enriched with immunoglobulin G4 (IgG4)-positive plasma cells. His kidney biopsy showed granular membranous deposits of IgG4 in the basement membrane without interstitial infiltrate. Antiphospholipid 2 receptor antibodies were absent excluding its "idiopathic" nature...
January 2017: Saudi Journal of Kidney Diseases and Transplantation
https://www.readbyqxmd.com/read/28097942/cd25-as-an-adverse-prognostic-factor-in-elderly-patients-with-acute-myeloid-leukemia
#13
Shin-Ichiro Fujiwara, Kazuo Muroi, Chihiro Yamamoto, Kaoru Hatano, Kiyoshi Okazuka, Kazuya Sato, Iekuni Oh, Ken Ohmine, Takahiro Suzuki, Keiya Ozawa
OBJECTIVES: CD25 has been reported to be highly expressed in leukemia stem cells and correlated with adverse outcomes in young patients with acute myeloid leukemia (AML). However, the significance of CD25 expression in elderly patients with AML has not yet been investigated. METHODS: We retrospectively analyzed 154 newly diagnosed AML patients aged 60 years or over by flow cytometry. RESULTS: CD25-positive AML was characterized by high white blood cell counts, secondary AML, rare favorable karyotypes, and positivity for CD34 and CD7 antigens, compared with CD25-negative AML...
January 18, 2017: Hematology (Amsterdam, Netherlands)
https://www.readbyqxmd.com/read/28097904/estimated-burden-of-cardiovascular-disease-and-value-based-price-range-for-evolocumab-in-a-high-risk-secondary-prevention-population-in-the-us-payer-context
#14
Peter P Toth, Mark Danese, Guillermo Villa, Yi Qian, Anne Beaubrun, Armando Lira, Jeroen P Jansen
AIM: To estimate real-world cardiovascular disease (CVD) burden and value-based price range of evolocumab for a US-context, high-risk, secondary-prevention population. MATERIALS AND METHODS: Burden of CVD was assessed using the UK-based Clinical Practice Research Datalink (CPRD) in order to capture complete CV burden including CV mortality. Patients on standard of care (SOC; high-intensity statins) in CPRD were selected based on eligibility criteria of FOURIER, a phase 3 CV outcomes trial of evolocumab, and categorized into 4 cohorts: high-risk prevalent atherosclerotic CVD (ASCVD) cohort (N = 1448), acute coronary syndrome (ACS) (N = 602), ischemic stroke (IS) (N = 151), and heart failure (HF) (N = 291) incident cohorts...
January 18, 2017: Journal of Medical Economics
https://www.readbyqxmd.com/read/28097511/brain-calcification-and-movement-disorders
#15
REVIEW
Vladimir S Kostić, Igor N Petrović
Brain calcifications may be an incidental finding on neuroimaging in normal, particularly older individuals, but can also indicate numerous hereditary and nonhereditary syndromes, and metabolic, environmental, infectious, autoimmune, mitochondrial, traumatic, or toxic disorders. Bilateral calcifications most commonly affecting the basal ganglia may often be found in idiopathic cases, and a new term, primary familial brain calcification (PFBC), has been proposed that recognizes the genetic causes of the disorder and that calcifications occurred well beyond the basal ganglia...
January 2017: Current Neurology and Neuroscience Reports
https://www.readbyqxmd.com/read/28096876/effectiveness-of-electroconvulsive-therapy-augmentation-on-clozapine-resistant-schizophrenia
#16
Hye Sung Kim, Se Hyun Kim, Nam Young Lee, Tak Youn, Jeoung Hyuk Lee, Seunghyun Chung, Yong Sik Kim, In Won Chung
OBJECTIVE: This retrospective case series study of the effectiveness of electroconvulsive therapy (ECT) augmentation on clozapine-resistant schizophrenia was conducted by EMR review. METHODS: Clozapine-resistance was defined as persistent psychotic symptoms despite at least 12 weeks of clozapine administration with blood levels over 350 ng/mL in order to rule out pseudo-resistance. Seven in-patients who were taking clozapine and treated with ECT were selected. We analyzed the psychopathology and subscales changed by ECT...
January 2017: Psychiatry Investigation
https://www.readbyqxmd.com/read/28096450/analysis-of-genome-instability-biomarkers-in-children-with-non-syndromic-orofacial-clefts
#17
Luíza Araújo da Costa Xavier, João Felipe Bezerra, Adriana Augusto de Rezende, Raffael Azevedo de Carvalho Oliveira, Rodrigo Juliani Siqueira Dalmolin, Viviane Souza do Amaral
The non-syndromic cleft lip and/or palate (NSCL/P) is a common birth defect caused by a combination of genetic and environmental factors. The possible role of genome instability on NSCL/P patient needs more investigation, since DNA metabolism is an essential cellular function to keep cells with normal genotypes and gene expression patterns according to tissue specificities, which is critical during embryo development because it requires sensitive regulation of cell proliferation, apoptosis and differentiation...
January 16, 2017: Mutagenesis
https://www.readbyqxmd.com/read/28096187/gprasp2-a-novel-causative-gene-mutated-in-an-x-linked-recessive-syndromic-hearing-loss
#18
Guangqian Xing, Jun Yao, Chunyu Liu, Qinjun Wei, Xuli Qian, Lingxin Wu, Yajie Lu, Xin Cao
BACKGROUND: A substantial amount of nuclear genes have been identified to be implicated in genetic hearing loss, while X-linked hearing loss is genetically heterogeneous and relatively infrequent. OBJECTIVE: To identify the causative gene mutation in a five-generation Chinese family with an X-linked recessive syndromic hearing loss (SHL). METHODS: Targeted X-chromosome exome sequencing was conducted, and cosegregation analysis was performed in the members of the affected family...
January 17, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28095964/f-wave-duration-parameters-as-a-specific-and-sensitive-tool-for-diagnosis-of-restless-legs-syndrome
#19
Patrizia Congiu, Maria Livia Fantini, Giulia Milioli, Paolo Tacconi, Michela Figorilli, Gioia Gioi, Bruno Pereira, Francesco Marrosu, Liborio Parrino, Monica Puligheddu
STUDY OBJECTIVES: Restless legs syndrome, also known as Willis-Ekbom disease (RLS/WED), is a frequent condition, though its pathophysiology is not completely understood. The diagnosis of RLS/WED relies on clinical criteria, and the only instrumental tool, the suggested immobilization test, may lead to equivocal results. Recently, neurophysiological parameters related to F-wave duration have been proposed as a diagnostic aid. The aim of this study is to assess and compare the diagnostic values of these parameters in diagnosis of RLS/WED...
January 11, 2017: Journal of Clinical Sleep Medicine: JCSM: Official Publication of the American Academy of Sleep Medicine
https://www.readbyqxmd.com/read/28095146/phase-i-first-in-human-study-of-venetoclax-in-patients-with-relapsed-or-refractory-non-hodgkin-lymphoma
#20
Matthew S Davids, Andrew W Roberts, John F Seymour, John M Pagel, Brad S Kahl, William G Wierda, Soham Puvvada, Thomas J Kipps, Mary Ann Anderson, Ahmed Hamed Salem, Martin Dunbar, Ming Zhu, Franklin Peale, Jeremy A Ross, Lori Gressick, Monali Desai, Su Young Kim, Maria Verdugo, Rod A Humerickhouse, Gary B Gordon, John F Gerecitano
Purpose B-cell leukemia/lymphoma-2 (BCL-2) overexpression is common in many non-Hodgkin lymphoma (NHL) subtypes. A phase I trial in patients with NHL was conducted to determine safety, pharmacokinetics, and efficacy of venetoclax, a selective, potent, orally bioavailable BCL-2 inhibitor. Patients and Methods A total of 106 patients with relapsed or refractory NHL received venetoclax once daily until progressive disease or unacceptable toxicity at target doses from 200 to 1,200 mg in dose-escalation and safety expansion cohorts...
January 17, 2017: Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology
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