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Overlap syndrome

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https://www.readbyqxmd.com/read/29792313/one-gene-many-endocrine-and-metabolic-syndromes-pten-opathies-and-precision-medicine
#1
Lamis Yehia, Charis Eng
An average of 10% of all cancers (range 1-40%) are caused by heritable mutations and over the years, have become powerful models for precision medicine practice. Furthermore, such cancer predisposition genes for seemingly rare syndromes have turned out to help explain mechanisms of sporadic carcinogenesis and often inform normal development. The tumor suppressor PTEN encodes a ubiquitously expressed phosphatase that counteracts the PI3K/AKT/mTOR cascade - one of the most critical growth-promoting signaling pathways...
May 23, 2018: Endocrine-related Cancer
https://www.readbyqxmd.com/read/29791652/inflammatory-myopathy-in-the-context-of-an-unusual-overlapping-laminopathy
#2
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/29790956/5-hydroxymethylcytosine-alterations-in-the-human-postmortem-brains-of-autism-spectrum-disorder
#3
Ying Cheng, Ziyi Li, Sasicha Manupipatpong, Li Lin, Xuekun Li, Tianlei Xu, Yong-Hui Jiang, Qiang Shu, Hao Wu, Peng Jin
Autism spectrum disorders (ASD) include a group of syndromes characterized by impaired language, social, and communication skills, in addition to restrictive behaviors or stereotypes. However, with a prevalence of 1.5% in developed countries and high comorbidity rates, no clear underlying mechanism that unifies the heterogeneous phenotypes of ASD exists. 5-hydroxymethylcytosine (5hmC) is highly enriched in the brain and recognized as an essential epigenetic mark in developmental and brain disorders. To explore the role of 5hmC in ASD, we used the genomic DNA isolated from the postmortem cerebellum of both ASD patients and age-matched controls to profile genome-wide distribution of 5hmC...
May 22, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29790456/evaluation-of-neuroimaging-findings-of-central-nervous-system-complications-in-heart-transplant-recipients
#4
Hale Turnaoglu, Ahmet Muhtesem Agildere, Feride Kural Rahatli, Fuldem Yildirim Donmez, Ruhsen Ocal, Taner Sezer, Ufuk Can, Atilla Sezgin, Sait Aslamaci
OBJECTIVES: In this study, we presented neuroradiologic findings and diagnoses of neurologic complications in a series of heart transplant recipients. MATERIALS AND METHODS: A retrospective review was conducted at Başkent University Hospital. We searched the hospital and radiology databases and identified 109 heart transplant recipients. Thirty-one of these recipients had neuroradiologic evaluations secondary to presentation of neurologic symptoms after heart transplant, with 18 patients evaluated with computed tomography and 22 patients evaluated with magnetic resonance imaging (overlap of imaging-defined groups occurred in 9 recipients)...
May 23, 2018: Experimental and Clinical Transplantation
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
#5
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/29787866/handedness-dependent-functional-organizational-patterns-within-the-bilateral-vestibular-cortical-network-revealed-by-fmri-connectivity-based-parcellation
#6
V Kirsch, R Boegle, D Keeser, E Kierig, B Ertl-Wagner, T Brandt, M Dieterich
Current evidence points towards a vestibular cortex that involves a multisensory bilateral temporo-parietal-insular network with a handedness-dependent hemispheric lateralization. This study aimed to identify handedness-dependent organizational patterns of (lateralized and non-lateralized) functional subunits within the human vestibular cortex areas. 60 healthy volunteers (30 left-handed and 30 right-handed) were examined on a 3T MR scanner using resting state functional MRI (fMRI). The data was analyzed in four major steps using a functional connectivity based parcellation (fCBP) approach: (1) independent component analysis (ICA) on a whole brain level to identify different resting state networks (RSN); (2) creation of a vestibular informed mask from four whole brain ICs that included reference coordinates of the vestibular network extracted from meta-analyses of vestibular neuroimaging experiments; (3) Re-ICA confined to the vestibular informed mask; (4) cross-correlation of the activated voxels within the vestibular subunits (parcels) to each other (P-to-P) and to the whole-brain RSN (P-to-RSN)...
May 19, 2018: NeuroImage
https://www.readbyqxmd.com/read/29786180/-bartter-syndrome-severe-rare-orphan-kidney-disease-a-step-towards-therapy-through-pharmacogenetic-and-epidemiological-studies
#7
EDITORIAL
Elena Conte, Paola Imbrici, Dalila Sahbani, Antonella Liantonio, Diana Conte
Bartter syndromes (BS) types 1-5 are rare salt-losing tubulopathies presenting with overlapping clinical phenotypes including marked salt wasting and hypokalemia leading to polyuria, polydipsia, volume contraction, muscle weakness and growth retardation. These diseases are due to an impairment of sodium, potassium, chloride reabsorption caused by mutations in genes encoding for ion channel or transporters expressed in specific nephron tubule segments. Particularly, BS type 3 is a clinically heterogeneous form caused by mutations in CLCNKB gene which encodes the ClC-Kb chloride channel involved in NaCl reabsorption in the renal tubule...
May 2018: Giornale Italiano di Nefrologia: Organo Ufficiale Della Società Italiana di Nefrologia
https://www.readbyqxmd.com/read/29785701/botulin-toxin-injection-to-improve-the-results-of-sphincter-overlap-in-high-grade-obstetric-anal-sphincter-injury-syndrome
#8
N Falco, L Pisegna Cerone, R Bellomo, A Infantino
No abstract text is available yet for this article.
May 21, 2018: Techniques in Coloproctology
https://www.readbyqxmd.com/read/29779902/molecular-genetics-and-metabolism-special-edition-diagnosis-diagnosis-and-prognosis-of-mucopolysaccharidosis-iva
#9
REVIEW
Hira Peracha, Kazuki Sawamoto, Lauren Averill, Heidi Kecskemethy, Mary Theroux, Mihir Thacker, Kyoko Nagao, Christian Pizarro, William Mackenzie, Hironori Kobayashi, Seiji Yamaguchi, Yasuyuki Suzuki, Kenji Orii, Tadao Orii, Toshiyuki Fukao, Shunji Tomatsu
Mucopolysaccharidosis IVA (MPS IVA, Morquio A syndrome) is an autosomal recessive disorder caused by the deficiency of N-acetylgalactosamine-6-sulfate sulfatase. Deficiency of this enzyme leads to the accumulation of specific glycosaminoglycans (GAGs), chondroitin-6-sulfate (C6S) and keratan sulfate (KS), which are mainly synthesized in the cartilage. Therefore, the substrates are stored primarily in the cartilage and its extracellular matrix (ECM), leading to a direct impact on bone development and successive systemic skeletal spondylepiphyseal dysplasia...
May 15, 2018: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29774303/myotonia-permanens-with-nav1-4-g1306e-displays-varied-phenotypes-during-course-of-life
#10
Frank Lehmann-Horn, Adele D'Amico, Enrico Bertini, Mauro Lomonaco, Luciano Merlini, Kevin R Nelson, Heike Philippi, Gabriele Siciliano, Frank Spaans, Karin Jurkat-Rott
Introduction: Myotonia permanens due to Nav1.4-G1306E is a rare sodium channelopathy with potentially life-threatening respiratory complications. Our goal was to study phenotypic variability throughout life. Methods: Clinical neurophysiology and genetic analysis were performed. Using existing functional expression data we determined the sodium window by integration. Results: In 10 unrelated patients who were believed to have epilepsy, respiratory disease or Schwartz-Jampel syndrome, we made the same prima facie diagnosis and detected the same heterologous Nav1...
September 2017: Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology
https://www.readbyqxmd.com/read/29774133/sporadic-renal-angiomyolipoma-in-a-patient-with-birt-hogg-dub%C3%A3-chaperones-in-pathogenesis
#11
Rebecca A Sager, Mark R Woodford, Oleg Shapiro, Mehdi Mollapour, Gennady Bratslavsky
Birt-Hogg-Dubé (BHD) is an autosomal dominant genetic syndrome caused by germline mutations in the FLCN gene that predisposes patients to develop renal tumors. Renal angiomyolipoma (AML) is not a renal tumor sub-type associated with BHD. AML is, however, a common phenotypic manifestation of Tuberous Sclerosis Complex (TSC) syndrome caused by mutations in either the TSC1 or TSC2 tumor suppressor genes. Previous case reports of renal AML in patients with BHD have speculated on the molecular and clinical overlap of these two syndromes as a result of described involvement of the gene products in the mTOR pathway...
April 24, 2018: Oncotarget
https://www.readbyqxmd.com/read/29767458/overlapping-but-distinct-roles-for-notch-receptors-in-human-cardiovascular-disease
#12
REVIEW
J A N Meester, A Verstraeten, M Alaerts, D Schepers, L Van Laer, B L Loeys
The NOTCH signalling pathway is an essential pathway, involved in many cellular processes, including cell fate decision, cell proliferation, and cell death and important in the development of most organs. Mutations in genes encoding components of the NOTCH signalling pathway lead to a spectrum of congenital disorders. Over the past decades mutations in human NOTCH signalling genes have been identified in several diseases with cardiovascular involvement. NOTCH1 mutations have been described in bicuspid aortic valve disease, left-sided congenital heart disease, and Adams-Oliver syndrome...
May 16, 2018: Clinical Genetics
https://www.readbyqxmd.com/read/29767222/mortality-in-asthma-chronic-obstructive-pulmonary-disease-overlap-in-the-united-states
#13
Suchit Kumbhare, Charlie Strange
OBJECTIVES: Asthma-chronic obstructive pulmonary disease (COPD) overlap (ACO) is recognized increasingly as a distinct clinical entity and is associated with higher comorbidities compared with patients with asthma and COPD alone. Little is known about the leading causes of death related to ACO in the US general population, however. Our aim was to define the causes of mortality among patients with ACO compared with asthma and COPD in the US population. METHODS: We examined questions using the National Health and Nutrition Examination Survey III database linked to the National Death Index...
May 2018: Southern Medical Journal
https://www.readbyqxmd.com/read/29766473/mr-imaging-findings-in-some-rare-neurological-complications-of-paediatric-cancer
#14
REVIEW
Tetsuhiko Okabe, Taiki Nozaki, Noriko Aida, Jay Starkey, Mikako Enokizono, Tetsu Niwa, Atsuhiko Handa, Yuji Numaguchi, Yasuyuki Kurihara
Neurological complications of paediatric cancers are a substantial problem. Complications can be primary from central nervous system (CNS) spread or secondary from indirect or remote effects of cancer, as well as cancer treatments such as chemotherapy and radiation therapy. In this review, we present the clinical and imaging findings of rare but important neurological complications in paediatric patients with cancer. Neurological complications are classified into three phases: pre-treatment, treatment and post-remission...
May 15, 2018: Insights Into Imaging
https://www.readbyqxmd.com/read/29766368/systemic-contact-dermatitis
#15
REVIEW
Marcella Aquino, Greg Rosner
Systemic contact dermatitis (SCD) traditionally refers to a skin condition where an individual who is cutaneously sensitized to an allergen will subsequently react to that same allergen or a cross reacting allergen via a different route. It occurs to allergens including metals, medications, and foods. The exact pathophysiology underlying this disease remains unknown, although it appears to be mediated by type 4 hypersensitivity reactions and possibly type 3 hypersensitivity reactions. The p-I concept (pharmacologic interaction with immunoreceptors) hypothesized that drugs are able to bind directly to a T cell receptor without first being presented by MHC (major histocompatibility complex) molecules and without prior metabolism, which would help explain why SCD can be seen on first exposure to medications...
May 15, 2018: Clinical Reviews in Allergy & Immunology
https://www.readbyqxmd.com/read/29766359/two-types-of-ectopic-cushing-syndrome-or-a-continuum-review
#16
REVIEW
Marta Araujo Castro, Mónica Marazuela Azpiroz
BACKGROUND: Two types of ectopic Cushing syndrome (ECS) are described: ECS associated with aggressive neoplasms, and ECS with indolent and occult tumors, however, there is a lack of studies that thoroughly review their characteristics. METHODS: A systematic review was carried out on PUBMED of all the papers about the ECS, in order to better define the types of this subcategory of Cushing's syndrome, highlighting the differential aspects between these subgroups. RESULTS: It was found that in 50% of cases the prototypic "aggressive" ECS is caused by small cell lung carcinomas (SCLC)...
May 15, 2018: Pituitary
https://www.readbyqxmd.com/read/29766218/qtl-mapping-and-epistatic-interaction-analysis-of-field-resistance-to-sudden-death-syndrome-fusarium-virguliforme-in-soybean
#17
Ruijuan Tan, Bradley Serven, Paul J Collins, Zhongnan Zhang, Zixiang Wen, John F Boyse, Cuihua Gu, Martin I Chilvers, Brian W Diers, Dechun Wang
Two interactive quantitative trait loci (QTLs) controlled the field resistance to sudden death syndrome (SDS) in soybean. The interaction between them was confirmed. Sudden death syndrome (SDS), caused by Fusarium virguliforme, is a major disease of soybean [Glycine max (L.) Merr.] in the United States. Breeding for soybean resistance to SDS is the most cost-effective method to manage the disease. The objective of this study was to identify and characterize quantitative trait loci (QTLs) underlying field resistance to SDS in a recombinant inbred line population from the cross GD2422 × LD01-5907...
May 15, 2018: TAG. Theoretical and Applied Genetics. Theoretische und Angewandte Genetik
https://www.readbyqxmd.com/read/29765130/copy-number-variants-implicate-cardiac-function-and-development-pathways-in-earthquake-induced-stress-cardiomyopathy
#18
Cameron J Lacey, Kit Doudney, Paul G Bridgman, Peter M George, Roger T Mulder, Julie J Zarifeh, Bridget Kimber, Murray J Cadzow, Michael A Black, Tony R Merriman, Klaus Lehnert, Vivienne M Bickley, John F Pearson, Vicky A Cameron, Martin A Kennedy
The pathophysiology of stress cardiomyopathy (SCM), also known as takotsubo syndrome, is poorly understood. SCM usually occurs sporadically, often in association with a stressful event, but clusters of cases are reported after major natural disasters. There is some evidence that this is a familial condition. We have examined three possible models for an underlying genetic predisposition to SCM. Our primary study cohort consists of 28 women who suffered SCM as a result of two devastating earthquakes that struck the city of Christchurch, New Zealand, in 2010 and 2011...
May 15, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29764427/col4a5-and-lama5-variants-co-inherited-in-familial-hematuria-digenic-inheritance-or-genetic-modifier-effect
#19
Konstantinos Voskarides, Gregory Papagregoriou, Despina Hadjipanagi, Ioanelli Petrou, Isavella Savva, Avraam Elia, Yiannis Athanasiou, Androulla Pastelli, Maria Kkolou, Michalis Hadjigavriel, Christoforos Stavrou, Alkis Pierides, Constantinos Deltas
BACKGROUND: About 40-50% of patients with familial microscopic hematuria (FMH) caused by thin basement membrane nephropathy (TBMN) inherit heterozygous mutations in collagen IV genes (COL4A3, COL4A4). On long follow-up, the full phenotypic spectrum of these patients varies a lot, ranging from isolated MH or MH plus low-grade proteinuria to chronic renal failure of variable degree, including end-stage renal disease (ESRD). METHODS: Here, we performed Whole Exome Sequencing (WES) in patients of six families, presenting with autosomal dominant FMH, with or without progression to proteinuria and loss of renal function, all previously found negative for severe collagen IV mutations...
May 16, 2018: BMC Nephrology
https://www.readbyqxmd.com/read/29764386/parkinson-s-disease-diagnostic-observations-paddo-study-rationale-and-design-of-a-prospective-cohort-study-for-early-differentiation-of-parkinsonism
#20
Anouke van Rumund, Marjolein B Aerts, Rianne A J Esselink, Frederick J A Meijer, Marcel M Verbeek, Bastiaan R Bloem
BACKGROUND: Differentiation of Parkinson's disease (PD) from the various types of atypical parkinsonism (AP) such as multiple system atrophy (MSA), progressive supranuclear palsy (PSP), dementia with Lewy bodies (DLB), corticobasal syndrome (CBS) and vascular parkinsonism (VP), can be challenging, especially early in the disease course when symptoms overlap. A major unmet need in the diagnostic workup of these disorders is a diagnostic tool that differentiates the various disorders, preferably in the earliest disease stages when the clinical presentation is similar...
May 16, 2018: BMC Neurology
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