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https://www.readbyqxmd.com/read/29161808/renal-outcome-of-congenital-anomalies-of-the-kidney-and-urinary-tract-system-a-singe-center-retrospective-study
#1
Rahime Renda
BACKGROUND: Congenital anomalies of the kidney and urinary tract (CAKUT) have been defined in 20 to 50% of all fetal anomalies. The aim of this study was to determine the demographic and clinical characteristics of such patients, as well as to describe the outcome and risk factors that affect the prognosis. METHODS: The analysis investigated retrospective data from 303 patients diagnosed with CAKUT between January 2015 and April 2017. Demographic data, clinical history, diagnosis, investigations, disease outcomes, and treatment procedures were evaluated...
November 21, 2017: Minerva Urologica e Nefrologica, the Italian Journal of Urology and Nephrology
https://www.readbyqxmd.com/read/29161795/superior-mesenteric-artery-syndrome-combined-with-renal-nutcracker-syndrome-in-a-young-male-a-case-report
#2
Myung Jin Oh
Superior mesenteric artery (SMA) syndrome is one of the rare causes of small bowel obstruction. It develops following a marked decrease in the angle between SMA and the abdominal aorta due to weight loss, anatomical anomalies, or following surgeries. Nutcracker syndrome in the left renal vein may also occur following a decrease in the aortomesenteric angle. Though SMA syndrome and renal nutcracker syndrome share the same pathogenesis, concurrent development has rarely been reported. Herein, we report a 23-year-old healthy male diagnosed with SMA syndrome and renal nutcracker syndrome due to severe weight reduction...
November 25, 2017: Korean Journal of Gastroenterology, Taehan Sohwagi Hakhoe Chi
https://www.readbyqxmd.com/read/29161788/aggressive-supratentorial-ependymoma-rela-fusion-positive-with-extracranial-metastasis-a-case-report
#3
Seong-Ik Kim, Yoojin Lee, Seung Ki Kim, Hyoung Jin Kang, Sung-Hye Park
Ependymoma is the third most common pediatric primary brain tumor. Ependymomas are categorized according to their locations and genetic abnormalities, and these two parameters are important prognostic factors for patient outcome. For supratentorial (ST) ependymomas, RELA fusion-positive ependymomas show a more aggressive behavior than YAP1 fusion-positive ependymomas. Extracranial metastases of intra-axial neuroepithelial tumors are extremely rare. In this paper, we report a case of aggressive anaplastic ependymoma arising in the right frontoparietal lobe, which had genetically 1q25 gain, CDKN2A homozygous deletion, and L1CAM overexpression...
November 2017: Journal of Pathology and Translational Medicine
https://www.readbyqxmd.com/read/29161784/calcifying-epithelial-odontogenic-cyst
#4
Balaji Manohar, Dhritiman Baidya, Neema Shetty, Aditi Mathur, Barkha Makhijani
The Calcifying Odontogenic Cyst was first described as a distinct clinicopathologic entity by Gorlin and his colleagues in 1962. Gold (1963) chose a similar, but not identical term for the lesion, namely 'keratinizing and calcifying odontogenic cyst'. The calcifying cystic odontogenic tumor (CCOT) is a new designation of calcifying odontogenic cyst (COC) recommended by the 2005 classification of the World Health Organization (WHO). The calcifying odontogenic cyst is not a common lesion; the dentinogenic ghost cell tumor is even less common and should be considered rare...
November 2017: Journal of Experimental Therapeutics & Oncology
https://www.readbyqxmd.com/read/29161772/microarray-analysis-of-gene-expression-in-the-cyclooxygenase-cox-knockout-mice-a-connection-to-autism-spectrum-disorder
#5
Ravneet Rai-Bhogal, Eizaaz Ahmad, Hongyan Li, Dorota A Crawford
The cellular and molecular events that take place during brain development play an important role in governing function of the mature brain. Lipid signalling molecules such as prostaglandin E2 (PGE2 ) play an important role in healthy brain development. Abnormalities along the COX/PGE2 signalling pathway due to genetic or environmental causes have been linked to Autism Spectrum Disorders (ASDs). This study aims to evaluate the effect of altered COX/PGE2 signalling on development and function of the prenatal brain using male mice lacking cyclooxygenase-1 and -2 (COX-1(-/-) and COX-2(-/-) ) as potential model systems of ASD...
November 21, 2017: European Journal of Neuroscience
https://www.readbyqxmd.com/read/29161751/the-jellyfish-sign-a-new-sonographic-cervical-marker-to%C3%A2-predict-maternal-morbidity-in-abnormally-invasive-placenta-previa
#6
Emma Bertucci, Filomena Giulia Sileo, Giovanni Grandi, Valentina Fenu, Carlotta Cani, Luciano Mancini, Ema Mataca, Fabio Facchinetti
Purpose To investigate the value of a new cervical sonographic sign, called the jellyfish sign (JS), for predicting the risk of maternal morbidity in cases of abnormally invasive placenta (AIP) previa totalis. Materials and Methods Retrospective evaluation of transvaginal (TV) and transabdominal (TA) scans performed in all singleton pregnancies with placenta previa totalis. JS, i. e. the absence of the normal linear demarcation between the placenta previa and the cervix, was evaluated by TV scans. The presence/severity of AIP and outcomes of maternal morbidity were related to this sign...
November 21, 2017: Ultraschall in der Medizin
https://www.readbyqxmd.com/read/29161709/impact-of-local-and-systemic-factors-on-kidney-dysfunction-in-bardet-biedl-syndrome
#7
Miriam Zacchia, Giovanna Capolongo, Francesco Trepiccione, Vincent Marion
Bardet Biedl syndrome (BBS) is a rare inherited syndromic condition characterized by renal and extra-renal disorders. Renal defect, at either structural or functional level, is one of the cardinal clinical features, and is a major cause of morbidity. However, the pathogenic mechanism underlying its dysfunction remains largely unknown, and to date only symptomatic treatment with no specific therapy is available for these patients. Elucidating aberrant cellular and/or systemic processes that impact kidney function is therefore a prerequisite to develop targeted innovative therapeutic strategies for the BBS patients...
November 21, 2017: Kidney & Blood Pressure Research
https://www.readbyqxmd.com/read/29161699/patterns-of-detection-of-fetal-posterior-fossa-anomalies-analysis-of-81-cases-in-the-second-half-of-gestation
#8
Stéphanie Friszer, Ferdinand Dhombres, Eléonore Blondiaux, Marie-Laure Moutard, Catherine Garel, Jean-Marie Jouannic
OBJECTIVE: To establish which characteristics of fetal ultrasound screening lead to the diagnosis of posterior fossa (PF) anomalies. METHODS: A total of 81 fetuses with PF anomalies diagnosed after dedicated neuroimaging between July 1, 2007, and January 1, 2013, were included. The ultrasound characteristics of the fetal cerebellum categorized according to an anatomical approach to the PF, associated fetal anomalies, gestational age at diagnosis, and the potential benefits from systematic measurement of the transverse cerebellar diameter (TCD) were analyzed...
November 21, 2017: Fetal Diagnosis and Therapy
https://www.readbyqxmd.com/read/29161622/on-denny-brown-s-spastic-dystonia-what-is-it-and-what-causes-it
#9
REVIEW
Jakob Lorentzen, Maud Pradines, Jean-Michel Gracies, Jens Bo Nielsen
In this review, we will work around two simple definitions of two different entities, which most often co-exist in patients with lesions to central motor pathways: Spasticity is "Enhanced excitability of velocity-dependent responses to phasic stretch at rest", which will not be the subject of this review, while Spastic dystonia is tonic, chronic, involuntary muscle contraction in the absence of any stretch or any voluntary command (Gracies, 2005). Spastic dystonia is a much less well understood entity that will be the subject this review...
November 4, 2017: Clinical Neurophysiology: Official Journal of the International Federation of Clinical Neurophysiology
https://www.readbyqxmd.com/read/29161426/family-history-of-gastric-mucosal-abnormality-and-the-risk-of-gastric-cancer-a-population-based-observational-study
#10
Huan Song, Isabella Guncha Ekheden, Alexander Ploner, Jan Ericsson, Olof Nyren, Weimin Ye
Background: An increased prevalence of gastric premalignant abnormalities was reported among relatives of gastric cancer (GC) patients, with rather unexplored clinical significance. Methods: In Swedish computerized pathology registers, we identified, as 'index' persons 232 681 patients who were born after 1931 and underwent endoscopic examination with stomach biopsy between 1979 and 2014. Through linkage with the Multi-Generation Register, we compiled a cohort consisting of 903 337 first-degree relatives of these biopsied patients...
November 17, 2017: International Journal of Epidemiology
https://www.readbyqxmd.com/read/29161416/combined-ovarian-and-adrenal-venous-sampling-in-the-localization-of-acth-independent-ectopic-cushing-s-syndrome
#11
Shi Chen, Ran Li, Xiaobo Zhang, Lin Lu, Ji Li, Hui Pan, Huijuan Zhu
Context: Cushing's syndrome is rarely caused by the secretion of cortisol from the ovarian tumors. It is important to determine whether the ovarian tumor is capable of secreting cortisol or not in clinical decision making. Selective ovarian and adrenal venous sampling has not been reported previously in the localization of ACTH-independent ectopic Cushing's syndrome. Case description: Herein, we presented a case of 40-year-old Chinese woman who has been manifested with weight gain, hirsutism, hypertension and menstrual disorder over a period of 6 months...
November 16, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29161404/mutation-dependent-aggregation-and-toxicity-in-a-drosophila-model-for-ubqln2-associated-als
#12
Sang Hwa Kim, Shannon G Stiles, Joseph M Feichtmeier, Nandini Ramesh, Lihong Zhan, Mark A Scalf, Lloyd M Smith, Udai Bhan Pandey, Randal S Tibbetts
Members of the conserved ubiquilin (UBQLN) family of ubiquitin (Ub) chaperones harbor an antipodal UBL (Ub-like)-UBA (Ub-associated) domain arrangement and participate in proteasome and autophagosome-mediated protein degradation. Mutations in a proline-rich-repeat region (PRR) of UBQLN2 cause amyotrophic lateral sclerosis (ALS)/frontotemporal dementia (FTD); however, neither the normal functions of the PRR nor impacts of ALS-associated mutations within it are well understood. In this study we show that ALS mutations perturb UBQLN2 solubility and folding in a mutation-specific manner...
November 17, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/29161372/plaaf-score-as-a-novel-predictor-of-long-term-outcome-after-second-generation-cryoballoon-pulmonary-vein-isolation
#13
Ersan Akkaya, Alexander Berkowitsch, Harald Greiss, Christian W Hamm, Johannes Sperzel, Thomas Neumann, Malte Kuniss
Aims: Predictors of atrial arrhythmia recurrence have not been described in a long-term follow-up study of patients undergoing pulmonary vein isolation (PVI) using the cryoballoon technique. We aimed to evaluate the efficacy of a second-generation cryoballoon and identify pre-procedural predictors of 3-year outcome after PVI. Methods and results: For this observational cohort study, we enrolled 440 patients ablated at our institution with a second-generation cryoballoon...
November 16, 2017: Europace: European Pacing, Arrhythmias, and Cardiac Electrophysiology
https://www.readbyqxmd.com/read/29161318/loss-of-mtorc2-signaling-in-oligodendrocyte-precursor-cells-delays-myelination
#14
Mark D Grier, Kathryn L West, Nathaniel D Kelm, Cary Fu, Mark D Does, Brittany Parker, Eleanor McBrier, Andre H Lagrange, Kevin C Ess, Robert P Carson
Myelin abnormalities are increasingly being recognized as an important component of a number of neurologic developmental disorders. The integration of many signaling pathways and cell types are critical for correct myelinogenesis. The PI3-K and mechanistic target of rapamycin (mTOR) pathways have been found to play key roles. mTOR is found within two distinct complexes, mTORC1 and mTORC2. mTORC1 activity has been shown to play a major role during myelination, while the role of mTORC2 is not yet well understood...
2017: PloS One
https://www.readbyqxmd.com/read/29161261/mrna-processing-in-mutant-zebrafish-lines-generated-by-chemical-and-crispr-mediated-mutagenesis-produces-unexpected-transcripts-that-escape-nonsense-mediated-decay
#15
Jennifer L Anderson, Timothy S Mulligan, Meng-Chieh Shen, Hui Wang, Catherine M Scahill, Frederick J Tan, Shao J Du, Elisabeth M Busch-Nentwich, Steven A Farber
As model organism-based research shifts from forward to reverse genetics approaches, largely due to the ease of genome editing technology, a low frequency of abnormal phenotypes is being observed in lines with mutations predicted to lead to deleterious effects on the encoded protein. In zebrafish, this low frequency is in part explained by compensation by genes of redundant or similar function, often resulting from the additional round of teleost-specific whole genome duplication within vertebrates. Here we offer additional explanations for the low frequency of mutant phenotypes...
November 21, 2017: PLoS Genetics
https://www.readbyqxmd.com/read/29161076/obesity-and-metabolic-abnormalities-in-chronic-obstructive-pulmonary-disease
#16
Emiel F M Wouters
Chronic obstructive pulmonary disease (COPD) and obesity are major causes of morbidity and mortality worldwide, and a relationship between COPD and obesity is increasingly recognized. The nature and underlying mechanisms of the link between obesity and COPD are still largely unknown. Obesity, and abdominal adiposity in particular, is linked to metabolic syndrome. Hypertension, hyperglycemia, and abdominal adiposity seem to be the most prevalent components of metabolic syndrome in COPD. Adipose tissues function as a source of a variety of signaling molecules in the pathobiology of respiratory diseases...
November 2017: Annals of the American Thoracic Society
https://www.readbyqxmd.com/read/29161075/metabolic-dysregulation-systemic-inflammation-and-pediatric-obesity-related-asthma
#17
Deepa Rastogi, Fernando Holguin
Obesity-related asthma is a distinct pediatric asthma phenotype. It is associated with higher disease burden, lower pulmonary function, and suboptimal response to current asthma medications. Recent studies have made inroads into elucidating its pathophysiology. Systemic immune responses in obese children with asthma are skewed to a nonatopic T-helper cell type 1 (Th1) pattern that correlates with pulmonary function deficits. The prevalence of metabolic dysregulation is also higher among obese children with asthma than among normal-weight children with asthma...
November 2017: Annals of the American Thoracic Society
https://www.readbyqxmd.com/read/29161034/dynamic-glycosylation-governs-the-vertebrate-copii-protein-trafficking-pathway
#18
Nathan J Cox, Gokhan Unlu, Brittany J Bisnett, Thomas R Meister, Brett Condon, Peter M Luo, Tim J Smith, Michael Hanna, Abhishek Chhetri, Erik J Soderblom, Anjon Audhya, Ela W Knapik, Michael Boyce
The COPII coat complex, which mediates secretory cargo trafficking from the endoplasmic reticulum, is a key control point for subcellular protein targeting. Because misdirected proteins cannot function, protein sorting by COPII is critical for establishing and maintaining normal cell and tissue homeostasis. Indeed, mutations in COPII genes cause a range of human pathologies, including cranio-lenticulo-sutural dysplasia (CLSD), which is characterized by collagen trafficking defects, craniofacial abnormalities and skeletal dysmorphology...
November 21, 2017: Biochemistry
https://www.readbyqxmd.com/read/29160919/appropriate-use-criteria-for-transthoracic-echocardiography-are-they-relevant-to-european-centers
#19
Robert N Kerley, Kenneth P Thornton, Raymond M Kelly, Siun O'Flynn
BACKGROUND: There is a growing interest in appropriate use criteria (AUC) for cardiovascular imaging referrals in Europe. These criteria, developed by American subspecialty societies, have been in use since 2007 and show a temporal reduction in inappropriate transthoracic echocardiogram (TTE) requests. When applied to European centers, inappropriate referral rates as high as 15% have been observed. METHODS: A retrospective analysis of TTE referrals for appropriateness and major abnormality detection was conducted over a two-month period at Cork University Hospital (CUH)...
November 21, 2017: Echocardiography
https://www.readbyqxmd.com/read/29160868/anchoring-%C3%AE-cyclodextrin-modified-lysine-to-polymer-monolith-with-biotin-specific-capture-of-plasminogen
#20
Haijiao Zheng, Naizhong Song, Xiqian Li, Qiong Jia
Plasminogen (Plg) is a kind of glycoprotein which plays an important role in cell migration. The determination of Plg content can directly reflect the abnormal manifestation of fibrinolytic system dysfunctions. In the present work, lysine (Lys)-based adsorbents were prepared for the specific capture of Plg through the covalent binding of Lys with a polymer monolithic substrate. Lys was modified with β-cyclodextrin (β-CD) via a click reaction and anchored to the substrate with biotin by host-guest interaction...
November 21, 2017: Analyst
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