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Overlap syndrome

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https://www.readbyqxmd.com/read/28210925/prospective-associations-between-depressive-symptoms-and-the-metabolic-syndrome-the-spirited-life-study-of-methodist-pastors-in-north-carolina
#1
Timothy W Smith, David E Eagle, Rae Jean Proeschold-Bell
BACKGROUND: Metabolic syndrome (Met-S) has a robust concurrent association with depression. A small, methodologically limited literature suggests that Met-S and depression are reciprocally related over time, an association that could contribute to their overlapping influences on morbidity and mortality in cardiovascular disease, diabetes, and cancer. PURPOSE: Using a refined approach to the measurement of Met-S as a continuous latent variable comprising continuous components, this study tested the prospective associations between Met-S and depression...
February 16, 2017: Annals of Behavioral Medicine: a Publication of the Society of Behavioral Medicine
https://www.readbyqxmd.com/read/28210570/balo-s-concentric-lesions-with-concurrent-features-of-schilder-s-disease-in-relapsing-multiple-sclerosis-neuropathological-findings
#2
Maher Kurdi, David Ramsay
Atypical inflammatory demyelinating syndromes are rare neurological diseases that differ from multiple sclerosis (MS), owing to unusual clinicoradiological and pathological findings, and poor responses to treatment. The distinction between them and the criteria for their diagnoses are poorly defined due to the lack of advanced research studies. Balo's concentric sclerosis (BCS) and Schilder's disease (SD) are two of these syndromes and can present as monophasic or in association with chronic MS. Both variants are difficult to distinguish when they present in acute stages...
October 2016: Autopsy & case reports
https://www.readbyqxmd.com/read/28209770/are-patients-with-loeys-dietz-syndrome-misdiagnosed-with-beals-syndrome
#3
Rebecca Woolnough, Andrew Dhawan, Kimberly Dow, Jagdeep S Walia
Beals syndrome, also known as congenital contractural arachnodactyly (Online Mendelian Inheritance in Man: 121050), is an autosomal dominant disorder caused by a mutation in FBN2 that is typically characterized by congenital contractures and arachnodactyly. It shares a number of phenotypic features with Loeys-Dietz syndrome (Online Mendelian Inheritance in Man: 609192). Loeys-Dietz syndrome, initially described in 2005, is associated with mutations for the transforming growth factor β receptor and is characterized by findings of cerebral, thoracic, and abdominal arterial aneurysms...
February 16, 2017: Pediatrics
https://www.readbyqxmd.com/read/28209039/-the-value-of-fractionated-exhaled-nitric-oxide-in-the-diagnosis-of-asthma-chronic-obstructive-pulmonary-disease-overlap-syndrome
#4
D D Deng, A Y Zhou, Q C Shuang, P Chen
Objective: To explore the diagnostic value of fractionated exhaled nitric oxide (FeNO) measurement in patients with asthma-chronic obstructive pulmonary disease(COPD) overlap syndrome (ACOS). Methods: Eighty-one patients with ACOS, 76 patients with asthma, 82 patients with COPD and 39 healthy non-smoking subjects were recruited in the study. Naku Lun breath analyzer was used to measure the level of FeNO in the 4 groups. Pulmonary function was also measured. The ROC curve was used to differentiate ACOS from patients with COPD...
February 12, 2017: Chinese Journal of Tuberculosis and Respiratory Diseases
https://www.readbyqxmd.com/read/28203363/an-exploratory-factor-analysis-of-the-spontaneous-reporting-of-severe-cutaneous-adverse-reactions
#5
Manfred Hauben, Eric Hung, Wen-Yaw Hsieh
BACKGROUND: Severe cutaneous adverse reactions (SCARs) are prominent in pharmacovigilance (PhV). They have some commonalities such as nonimmediate nature and T-cell mediation and rare overlap syndromes have been documented, most commonly involving acute generalized exanthematous pustulosis (AGEP) and drug rash with eosinophilia and systemic symptoms (DRESS), and DRESS and toxic epidermal necrolysis (TEN). However, they display diverse clinical phenotypes and variations in specific T-cell immune response profiles, plus some specific genotype-phenotype associations...
January 2017: Therapeutic Advances in Drug Safety
https://www.readbyqxmd.com/read/28198391/mcm5-a-new-actor-in-the-link-between-dna-replication-and-meier-gorlin-syndrome
#6
Annalisa Vetro, Salvatore Savasta, Annalisa Russo Raucci, Cristina Cerqua, Geppo Sartori, Ivan Limongelli, Antonella Forlino, Silvia Maruelli, Paola Perucca, Debora Vergani, Giuliano Mazzini, Andrea Mattevi, Lucia Anna Stivala, Leonardo Salviati, Orsetta Zuffardi
Meier-Gorlin syndrome (MGORS) is a rare disorder characterized by primordial dwarfism, microtia, and patellar aplasia/hypoplasia. Recessive mutations in ORC1, ORC4, ORC6, CDT1, CDC6, and CDC45, encoding members of the pre-replication (pre-RC) and pre-initiation (pre-IC) complexes, and heterozygous mutations in GMNN, a regulator of cell-cycle progression and DNA replication, have already been associated with this condition. We performed whole-exome sequencing (WES) in a patient with a clinical diagnosis of MGORS and identified biallelic variants in MCM5...
February 15, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28194148/animal-models-of-emerging-tick-borne-phleboviruses-determining-target-cells-in-a-lethal-model-of-sftsv-infection
#7
Keita Matsuno, Yasuko Orba, Kimberly Maede-White, Dana Scott, Friederike Feldmann, Mifang Liang, Hideki Ebihara
The pathogenesis of clinical manifestations caused by newly emerging tick-borne phleboviruses [i.e., Severe fever with thrombocytopenia syndrome virus (SFTSV) and Heartland virus (HRTV)], such as severe thrombocytopenia and lymphocytopenia, are not yet fully understood. In the present study, to establish an animal model mimicking the profile of fatal human cases, we examined the susceptibilities of adult mice from 12 strains, aged mice from two strains, and cynomolgus macaques to SFTSV and/or HRTV infections...
2017: Frontiers in Microbiology
https://www.readbyqxmd.com/read/28193741/coinfection-of-leishmania-guyanensis-and-human-immunodeficiency-virus-acquired-immune-deficiency-syndrome-report-of-a-case-of-disseminated-cutaneous-leishmaniasis-in-ecuador
#8
Manuel Calvopina, Cristina Aguirre, William Cevallos, Alberto Castillo, Ibrahim Abbasi, Alon Warburg
Reported herein is the first case of Leishmania-human immunodeficiency virus (HIV) coinfection in Ecuador. In Ecuador, HIV infections overlap endemic areas of leishmaniasis. Immunosuppression is a well-established risk factor for developing severe disease. This is a severe case of a 32-year-old man presenting with disseminated pleomorphic ulcers, papules, and cutaneous plaque-like lesions over his whole body. Numerous amastigotes were observed in both skin scrapings and biopsies. The sequence of the cytochrome b gene confirmed the presence of Leishmania guyanensis The patient was treated but failed to respond to meglumine antimoniate and amphotericin B...
February 13, 2017: American Journal of Tropical Medicine and Hygiene
https://www.readbyqxmd.com/read/28191814/the-pathophysiologic-basis-of-anaemia-in-patients-with-malignant-diseases
#9
Umma A Ibrahim, Aminu A Yusuf, Sagir G Ahmed
Cancer patients frequently present with anaemia that may result from the direct or indirect effects of the tumor or its treatment. Anaemia is an independent adverse prognostic factor that exerts negative influence on quality of life and survival of cancer patients. Anaemia in malignant disorders often arises from an interplay of multiple aetiological and pathophysiologic mechanisms. Understanding these mechanisms will help the oncologist identify and treat specific causes of the anaemia thereby minimizing the use of blood transfusion, which is associated with many adverse effects...
September 2016: Gulf Journal of Oncology
https://www.readbyqxmd.com/read/28190459/mutations-in-inpp5k-cause-a-form-of-congenital-muscular-dystrophy-overlapping-marinesco-sj%C3%A3-gren-syndrome-and-dystroglycanopathy
#10
Daniel P S Osborn, Heather L Pond, Neda Mazaheri, Jeremy Dejardin, Christopher J Munn, Khaloob Mushref, Edmund S Cauley, Isabella Moroni, Maria Barbara Pasanisi, Elizabeth A Sellars, R Sean Hill, Jennifer N Partlow, Rebecca K Willaert, Jaipreet Bharj, Reza Azizi Malamiri, Hamid Galehdari, Gholamreza Shariati, Reza Maroofian, Marina Mora, Laura E Swan, Thomas Voit, Francesco J Conti, Yalda Jamshidi, M Chiara Manzini
Congenital muscular dystrophies display a wide phenotypic and genetic heterogeneity. The combination of clinical, biochemical, and molecular genetic findings must be considered to obtain the precise diagnosis and provide appropriate genetic counselling. Here we report five individuals from four families presenting with variable clinical features including muscular dystrophy with a reduction in dystroglycan glycosylation, short stature, intellectual disability, and cataracts, overlapping both the dystroglycanopathies and Marinesco-Sjögren syndrome...
February 1, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28188970/refractory-anemia-with-ring-sideroblasts-rars-and-rars-with-thrombocytosis-rars-t-2017-update-on-diagnosis-risk-stratification-and-management
#11
Mrinal M Patnaik, Ayalew Tefferi
DISEASE OVERVIEW: Ring sideroblasts (RS) are erythroid precursors with abnormal perinuclear mitochondrial iron accumulation. Two myeloid neoplasms defined by the presence of RS, include refractory anemia with ring sideroblasts (RARS), now classified under myelodysplastic syndromes with RS (MDS-RS) and RARS with thrombocytosis (RARS-T); now called myelodysplastic/myeloproliferative neoplasm with RS and thrombocytosis (MDS/MPN-RS-T). DIAGNOSIS: MDS-RS is a lower risk MDS, with single or multilineage dysplasia (SLD/MLD), <5% bone marrow (BM) blasts and ≥15% BM RS (≥5% in the presence of SF3B1 mutations)...
March 2017: American Journal of Hematology
https://www.readbyqxmd.com/read/28186603/-prenatal-genetic-analysis-of-two-fetuses-with-miller-dieker-syndrome
#12
Shaobin Lin, Yanmin Luo, Jianzhu Wu, Baojiang Chen, Yuanjun Ji, Yi Zhou
OBJECTIVE: To perform molecular cytogenetic study on two fetuses with abnormal ultrasound findings and analyze their genotype-phenotype correlation. METHODS: G-banded karyotyping, single nucleotide polymorphism array (SNP array) and fluorescence in situ hybridization (FISH) were performed on amniotic fluid cells from both fetuses and peripheral blood samples from their parents. Results of SNP array were analyzed with bioinformatics software. RESULTS: G-banded karyotyping failed to detect any abnormalities in both fetuses and their parents...
February 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28186393/chronic-fatigue-in-ehlers-danlos-syndrome-hypermobile-type
#13
Alan Hakim, Inge De Wandele, Chris O'Callaghan, Alan Pocinki, Peter Rowe
Chronic fatigue is an important contributor to impaired health-related quality of life in Ehlers-Danlos syndrome. There is overlap in the symptoms and findings of EDS and chronic fatigue syndrome. A proportion of those with CFS likely have EDS that has not been identified. The evaluation of chronic fatigue in EDS needs to include a careful clinical examination and laboratory testing to exclude common causes of fatigue including anemia, hypothyroidisim, and chronic infection, as well as dysfunction of major physiological or organ systems...
February 10, 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/28185025/constipation-pathophysiology-and-current-therapeutic-approaches
#14
Amol Sharma, Satish Rao
Chronic constipation is a common, persistent condition affecting many patients worldwide, presenting significant economic burden and resulting in substantial healthcare utilization. In addition to infrequent bowel movements, the definition of constipation includes excessive straining, a sense of incomplete evacuation, failed or lengthy attempts to defecate, use of digital manoeuvres for evacuation of stool, abdominal bloating, and hard consistency of stools. After excluding secondary causes of constipation, chronic idiopathic or primary constipation can be classified as functional defecation disorder, slow-transit constipation (STC), and constipation-predominant irritable bowel syndrome (IBS-C)...
February 10, 2017: Handbook of Experimental Pharmacology
https://www.readbyqxmd.com/read/28182120/sagging-eye-syndrome-or-nemaline-rod-myopathy-divergence-insufficiency-with-levator-dehiscence-as-an-overlapping-symptom-between-two-diagnoses
#15
Stephanie S L Cheung, Larissa K Ghadiali, Thomas H Brannagan Iii, Gul Moonis, Phyllis L Faust, Jeffrey G Odel
A 78-year-old woman complained of gradual, painless onset of horizontal binocular diplopia associated with progressive axial weakness. Physical examination revealed esotropia that was greater at distance than at near vision, bilateral levator dehiscence, and normal abducting saccadic speeds. Given the age of the patient and compatible clinical findings, the diagnosis of Sagging Eye Syndrome (SES) was made. However, further work-up with a muscle biopsy suggested Sporadic Late-Onset Nemaline Myopathy (SLONM) as the cause of her progressive muscle weakness...
2017: Case Reports in Ophthalmological Medicine
https://www.readbyqxmd.com/read/28180024/ciliopathies-genetics-in-pediatric-medicine
#16
REVIEW
Machteld M Oud, Ideke J C Lamers, Heleen H Arts
Ciliary disorders, which are also referred to as ciliopathies, are a group of hereditary disorders that result from dysfunctional cilia. The latter are cellular organelles that stick up from the apical plasma membrane. Cilia have important roles in signal transduction and facilitate communications between cells and their surroundings. Ciliary disruption can result in a wide variety of clinically and genetically heterogeneous disorders with overlapping phenotypes. Because cilia occur widespread in our bodies many organs and sensory systems can be affected when they are dysfunctional...
March 2017: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/28178435/an-up-to-date-approach-to-a-patient-with-a-suspected-autoinflammatory-disease
#17
REVIEW
Merav Lidar, Eitan Giat
Autoinflammatory diseases (AID) are characterized by seemingly unprovoked self-limited attacks of fever and systemic inflammation potentially leading to amyloidosis. Familial Mediterranean fever (FMF) is the most common AID and therefore the most studied. Besides FMF, the other main hereditary AID are tumor necrosis factor-associated periodic fever syndrome (TRAPS), mevalonate kinase deficiency (MKD), and cryopyrin-associated periodic fever syndrome (CAPS). These hereditary diseases result from a mutant gene that is involved in the regulation of inflammation, resulting in a characteristic clinical phenotype...
January 30, 2017: Rambam Maimonides Medical Journal
https://www.readbyqxmd.com/read/28177360/genomewide-association-of-piglet-responses-to-infection-with-one-of-two-porcine-reproductive-and-respiratory-syndrome-virus-isolates
#18
E H Waide, C K Tuggle, N V L Serão, M Schroyen, A Hess, R R R Rowland, J K Lunney, G Plastow, J C M Dekkers
Porcine reproductive and respiratory syndrome (PRRS) is a devastating disease in the swine industry. Identification of host genetic factors that enable selection for improved performance during PRRS virus (PRRSV) infection would reduce the impact of this disease on animal welfare and production efficiency. We conducted genomewide association study (GWAS) analyses of data from 13 trials of approximately 200 commercial crossbred nursery-age piglets that were experimentally infected with 1 of 2 type 2 isolates of PRRSV (NVSL 97-7985 [NVSL] and KS2006-72109 [KS06])...
January 2017: Journal of Animal Science
https://www.readbyqxmd.com/read/28176894/autoimmune-hepatitis-current-challenges-and-future-prospects
#19
REVIEW
Yoshio Aizawa, Atsushi Hokari
Autoimmune hepatitis (AIH) is a chronic progressive liver disease characterized by high levels of aminotransferases and autoantibodies, hypergammaglobulinemia, and interface hepatitis. AIH affects all races and all ages worldwide, regardless of sex, although a preponderance of females is a constant finding. The etiology of AIH has not been completely elucidated, but immunogenetic background and environmental parameters may contribute to its development. The most important genetic factor is human leukocyte antigens (HLAs), especially HLA-DR, whereas the role of environmental factors is not completely understood...
2017: Clinical and Experimental Gastroenterology
https://www.readbyqxmd.com/read/28169105/current-evidence-on-prevalence-and-clinical-outcomes-of-co-morbid-obstructive-sleep-apnea-and-chronic-obstructive-pulmonary-disease-a-systematic-review
#20
REVIEW
Md Shajedur R Shawon, Jennifer L Perret, Chamara V Senaratna, Caroline Lodge, Garun S Hamilton, Shyamali C Dharmage
The objective of this systematic review is to synthesize the evidence on prevalence, polysomnographic findings and clinical outcomes of co-morbid obstructive sleep apnea (OSA) and chronic obstructive pulmonary disease (COPD) - known as the "overlap syndrome". We systematically searched PubMed on 1 December 2015 using appropriate medical subject headings (MeSH) and text words to capture prevalence studies and comparative studies of any observational design examining the clinical outcomes in patients with co-existent COPD and OSA...
April 2017: Sleep Medicine Reviews
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