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https://www.readbyqxmd.com/read/27922989/totally-endoscopic-robotic-correction-of-cor-triatriatum-sinister-coexisting-with-atrial-septal-defect
#1
Changqing Gao, Ming Yang, Cangsong Xiao, Huajun Zhang, Gang Wang
Cor triatriatum sinister (CTS) is a rare congenital cardiac anomaly and is mainly corrected through conventional surgery through sternotomy. We described our successful novel surgical technique of totally robotic correction of CTS in one case of CTS with concomitant repair of atrial septal defect using da Vinci SI Surgical System (Intuitive Surgical, Inc, Sunnyvale, CA USA) with excellent surgical outcome. We conclude that robotic correction of CTS is a feasible and safe alternative to conventional surgical technique...
December 5, 2016: Innovations: Technology and Techniques in Cardiothoracic and Vascular Surgery
https://www.readbyqxmd.com/read/27922244/a-novel-de-novo-mutation-involving-the-mll2-gene-in-a-kabuki-syndrome-patient-presenting-with-seizures
#2
Can Ebru Bekircan-Kurt, Pelin Özlem Şimşek-Kiper, Koray Boduroğlu, Neşe Dericioğlu
Kabuki syndrome is a rare multiple congenital anomaly disorder. Although mental retardation is one of the main features, various neurological symptoms such as hypotonia and seizures can occur. Here we report on a 18-year-old Turkish male patient who was diagnosed previously as Kabuki syndrome. Molecular genetic analysis showed a novel de novo heterozygous mutation (c.12964C > T [p.Gln4322*] ) in the MLL2 gene, that leads to the synthesis of a truncated protein. The aim of the present report is to increase the awareness of Kabuki Syndrome among adult neurologists and to present a previously unreported non-sense mutation in the MLL2 gene...
2016: Turkish Journal of Pediatrics
https://www.readbyqxmd.com/read/27922198/dnmt1-modulation-in-chronic-hepatitis-b-patients-and-hypothetic-influence-on-mitochondrial-dna-methylation-status-during-long-term-nucleo-t-side-analogues-therapy
#3
Giordano Madeddu, Silvia Ortu, Giovanni Garrucciu, Ivana Maida, Michela Melis, Alberto Augusto Muredda, Maria Stella Mura, Sergio Babudieri
Inhibition of viral replication is the most important goal in patients with Hepatitis B virus chronic infection (CHB). Currently, five oral nucleo(t)side analogues (NAs), including Lamivudine, Adefovir, Telbivudine, Entecavir and Tenofovir, have been approved for treatment. The widespread use of NAs has also been linked with a progressive growth of unlikely anomaly attributable to mitochondrial dysfunctions, not previously recognized. Here we explore the hypothesis that NAs may cause persistent epigenetic changes during prolonged NAs therapy in CHB patients...
December 6, 2016: Journal of Medical Virology
https://www.readbyqxmd.com/read/27922054/first-insight-into-the-proteome-landscape-of-the-porcine-short-posterior-ciliary-arteries-key-signalling-pathways-maintaining-physiologic-functions
#4
Caroline Manicam, Natarajan Perumal, Norbert Pfeiffer, Franz H Grus, Adrian Gericke
Short posterior ciliary arteries (sPCA) provide the major blood supply to the optic nerve head. Emerging evidence has linked structural and functional anomalies of sPCA to the pathogenesis of several ocular disorders that cause varying degrees of visual loss, particularly anterior ischaemic optic neuropathy and glaucoma. Although the functional relevance of this vascular bed is well-recognized, the proteome of sPCA remains uncharacterized. Since the porcine ocular system closely resembles that of the human's and is increasingly employed in translational ophthalmic research, this study characterized the proteome of porcine sPCA employing the mass spectrometry-based proteomics strategy...
December 6, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27922004/annually-resolved-north-atlantic-marine-climate-over-the-last-millennium
#5
D J Reynolds, J D Scourse, P R Halloran, A J Nederbragt, A D Wanamaker, P G Butler, C A Richardson, J Heinemeier, J Eiríksson, K L Knudsen, I R Hall
Owing to the lack of absolutely dated oceanographic information before the modern instrumental period, there is currently significant debate as to the role played by North Atlantic Ocean dynamics in previous climate transitions (for example, Medieval Climate Anomaly-Little Ice Age, MCA-LIA). Here we present analyses of a millennial-length, annually resolved and absolutely dated marine δ(18)O archive. We interpret our record of oxygen isotope ratios from the shells of the long-lived marine bivalve Arctica islandica (δ(18)O-shell), from the North Icelandic shelf, in relation to seawater density variability and demonstrate that solar and volcanic forcing coupled with ocean circulation dynamics are key drivers of climate variability over the last millennium...
December 6, 2016: Nature Communications
https://www.readbyqxmd.com/read/27921094/fetal-cerebellar-vermis-circumference-measured-by-2-dimensional-ultrasound-scan-reference-range-feasibility-and-reproducibility
#6
M Spinelli, C Sica, L D Meglio, D Bolla, L Raio, D Surbek
Purpose: To provide 2-dimensional ultrasonographic (2D-US) normograms of cerebellar vermis biometry, as well as to evaluate the feasibility and the reproducibility of these measurements in clinical practice. Materials and Methods: A prospective cross-sectional study of 328 normal singleton pregnancies between 18 and 33 weeks of gestation. Measurements of the fetal cerebellar vermis circumference (VC) in the mid-sagittal plane were performed by both a senior and a junior operator using 2D-US. VC as a function of gestational age (GA) was expressed by regression equations...
November 2016: Ultrasound International Open
https://www.readbyqxmd.com/read/27920877/simultaneous-duodenal-stenosis-and-duodenal-web-in-a-newborn
#7
James Erickson, Michele Retrouvey, Jennifer Rush, Anthony P Trace
Failure of duodenal recanalization results in a spectrum of proximal bowel obstruction from stenosis to atresia. Associations between congenital duodenal obstruction and other congenital anomalies have been well documented although the coincidence of duodenal stenosis and duodenal web is incredibly rare, posing a unique diagnostic challenge. We report a case of a full-term 4-day-old female child presented with forceful, bilious emesis and poor oral intake with decreased frequency of urination, and stooling whose initial abdominal radiograph showed several loops of gas-filled bowel in the distal stomach and proximal duodenum mimicking the classic "double-bubble" sign...
December 2016: Radiology case reports
https://www.readbyqxmd.com/read/27920851/zinner-syndrome-a-rare-developmental-anomaly-of-the-mesonephric-duct-diagnosed-on-magnetic-resonance-imaging
#8
Shibani Mehra, Rajeev Ranjan, Umesh Chandra Garga
Developmental anomalies of the urogenital tract are rare but often encountered. Zinner's syndrome is a rare congenital abnormality of mesonephric (Wolffian) duct consisting of unilateral renal agenesis, ipsilateral seminal vesicle cyst, and ipsilateral ejaculatory duct obstruction due to developmental arrest in early embryogenesis affecting the caudal end of Mullerian duct and only approximately a 100 cases have been reported so far. Radiologic modalities such as intravenous pyelography, ultrasonography, vasovesiculography, contrast enhanced computed tomography, and magnetic resonance imaging are all helpful in diagnosis of this unusual entity...
December 2016: Radiology case reports
https://www.readbyqxmd.com/read/27920841/wolffian-origin-of-vagina-unfolds-the-embryopathogenesis-of-ohvira-obstructed-hemivagina-and-ipsilateral-renal-anomaly-syndrome-and-places-ohvira-as-a-female-counterpart-of-zinner-syndrome-in-males
#9
Yashant Aswani, Ravi Varma, Pradeep Choudhary, Reeta B Gupta
BACKGROUND: The classical theory of Müllerian origin of upper vagina fails to explain complex urogenital malformations like OHVIRA syndrome; the Acien's hypothesis, however, unravels the hidden embryopathogenesis. As per Acien, Wolffian (mesonephric) ducts instead of Müllerian ducts and sinovaginal bulbs, give rise to the vagina. The new hypothesis, however, retains the concept of origin of the ureters (with ureters inducing renal development) by the former and the uterus by Müllerian ducts...
2016: Polish Journal of Radiology
https://www.readbyqxmd.com/read/27920840/unusual-use-of-gd-eob-dtpa-in-mrcp-in-order-to-reveal-the-source-of-bile-leakage-in-a-patient-with-neuroendocrine-tumor-case-report
#10
Rafał Mazur, Aleksander Pawluś, Kinga Szymańska, Mateusz Patyk, Anna Otlewska, Krzysztof Międzybrodzki, Dąbrówka Sokołowska-Dąbek, Eliza Kubicka, Urszula Zaleska-Dorobisz
BACKGROUND: MRCP is the method of choice in diagnosing pathologies of the biliary system. One of them is bile fistulae. They are uncommon but tend to cause many diagnostic problems. The possible way to improve MRCP is using it with intravenous injection of hepatobiliary-specific contrast agents. As it is eliminated via the hepatobiliary system, it can be visualized in the bile ducts and may help to reveal disorders undetected by a standard MRCP. CASE REPORT: We report a case of a 36-year-old woman with leakage in the biliary system which led to creation of a subcutaneous bile reservoir...
2016: Polish Journal of Radiology
https://www.readbyqxmd.com/read/27920638/interstitial-1q21-1-microdeletion-is-associated-with-severe-skeletal-anomalies-dysmorphic-face-and-moderate-intellectual-disability
#11
Bruno F Gamba, Roseli M Zechi-Ceide, Nancy M Kokitsu-Nakata, Siulan Vendramini-Pittoli, Carla Rosenberg, Ana C V Krepischi Santos, Lucilene Ribeiro-Bicudo, Antonio Richieri-Costa
We report on a Brazilian patient with a 1.7-Mb interstitial microdeletion in chromosome 1q21.1. The phenotypic characteristics include microcephaly, a peculiar facial gestalt, cleft lip/palate, and multiple skeletal anomalies represented by malformed phalanges, scoliosis, abnormal modeling of vertebral bodies, hip dislocation, abnormal acetabula, feet anomalies, and delayed neuropsychological development. Deletions reported in this region are clinically heterogeneous, ranging from subtle phenotypic manifestations to severe congenital heart defects and/or neurodevelopmental findings...
November 2016: Molecular Syndromology
https://www.readbyqxmd.com/read/27920635/clinical-and-molecular-characterisation-of-children-with-pierre-robin-sequence-and-additional-anomalies
#12
Jessie X Xu, Nicky Kilpatrick, Naomi L Baker, Anthony Penington, Peter G Farlie, Tiong Yang Tan
Pierre Robin Sequence (PRS) is usually classified into syndromic and nonsyndromic groups, with a further subclassification of the nonsyndromic group into isolated PRS and PRS with additional anomalies (PRS-Plus). The aim of this research is to provide an accurate phenotypic characterisation of nonsyndromic PRS, specifically the PRS-Plus subgroup. We sought to examine the frequency of sequence variants in previously defined conserved noncoding elements (CNEs) in the putative enhancer region upstream of SOX9, the regulation of which has been associated with PRS phenotypes...
November 2016: Molecular Syndromology
https://www.readbyqxmd.com/read/27920266/variability-of-ponto-cerebellar-fibers-by-diffusion-tensor-imaging-in-diverse-brain-malformations
#13
Nancy K Rollins, Timothy N Booth, Maria H Chahrour
To describe pontine axonal anomalies across diverse brain malformations. Institutional review board-approved review of magnetic resonance imaging (MRI) and genetic testing of 31 children with brain malformations and abnormal pons by diffusion tensor imaging. Anomalous dorsal pontocerebellar tracts were seen in mid-hindbrain anomalies and in diffuse malformations of cortical development including lissencephaly, gyral disorganization with dysplastic basal ganglia, presumed congenital fibrosis of extraocular muscles type 3, and in callosal agenesis without malformations of cortical development...
December 5, 2016: Journal of Child Neurology
https://www.readbyqxmd.com/read/27919727/patent-ductus-arteriosus-in-cats-felis-catus-50-cases-2000-2015
#14
A Bascuñán, K M Thieman Mankin, A B Saunders, J M Bright, V Scharf, A Singh, L O'Sullivan, B Brisson, A H Estrada, S P Tou, C Ruoff
OBJECTIVES: To describe signalment, clinical characteristics, diagnostic, treatment, and outcome data in a large case series of cats with patent ductus arteriosus (PDA). ANIMALS: Fifty cats with confirmed PDA. METHODS: Retrospective review of medical records from five referral veterinary hospitals for cats with PDA between 2000 and 2015. Cats were included if a PDA was visualized echocardiographically, during surgery, or on post-mortem examination...
December 2, 2016: Journal of Veterinary Cardiology: the Official Journal of the European Society of Veterinary Cardiology
https://www.readbyqxmd.com/read/27919407/incidence-of-urinary-tract-infections-in-infants-with-antenatally-diagnosed-hydronephrosis-a-retrospective-single-center-study
#15
Sofia Visuri, Timo Jahnukainen, Seppo Taskinen
OBJECTIVE: To evaluate the incidence of urinary tract infections (UTIs) in infants with antenatal hydronephrosis (AHN). MATERIALS AND METHODS: A cohort of AHN patients admitted to our institution between 2003 and 2013 were identified. Altogether 192 patients with nonrefluxing hydronephrosis (HN, n=135), nonrefluxing hydroureteronephrosis (HUN, n=21), or vesicoureteral reflux (VUR, n=36) were identified. Patients with complex anomalies or neonatal decompression of the urinary tract were excluded...
November 23, 2016: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/27918852/anomaly-detection-outperforms-logistic-regression-in-predicting-outcomes-in-trauma-patients
#16
Zachary D W Dezman, Chen Gao, Shiming Yang, Peter Hu, Li Yao, Hsiao-Chi Li, Chein-I Chang, Colin Mackenzie
OBJECTIVE: Recent advancements in trauma resuscitation have shown a great benefit of early identification and control of hemorrhage, which is the most common cause of death in injured patients. We introduce a new analytical approach, anomaly detection (AD), as an alternative method to the traditional logistic regression (LR) method in predicting which injured patients receive transfusions, intensive care, and other interventions. METHODS: We abstracted routinely collected prehospital vital sign data from patient records (adult patients who survived more than 15 minutes after being directly admitted to a level 1 trauma center)...
December 5, 2016: Prehospital Emergency Care
https://www.readbyqxmd.com/read/27918317/minimally-invasive-robotically-assisted-repair-of-partial-anomalous-venous-connection
#17
Luigi Pirelli, Chad A Kliger, Nirav C Patel, Marcella Bono, Carlos E Ruiz, Vladimir Jelnin, Gregory P Fontana
We describe a novel robotically assisted minimally invasive surgical technique for repair of partial anomalous pulmonary vein connection (PAPVC). Partial anomalous pulmonary vein connection is a rare congenital anomaly that consists in drainage of one or more pulmonary veins into the systemic venous system. Traditionally, large thoracotomy incision and sometimes establishment of cardiopulmonary bypass are needed to redirect the abnormal pulmonary vein to the left-sided reservoir. We describe a robotically assisted, minimally invasive, off-pump technique for the treatment of the left PAPVC in a 57-year-old patient with signs of progressive right ventricular dilatation...
December 1, 2016: Innovations: Technology and Techniques in Cardiothoracic and Vascular Surgery
https://www.readbyqxmd.com/read/27917936/robust-contribution-of-decadal-anomalies-to-the-frequency-of-central-pacific-el-ni%C3%A3-o
#18
Arnold Sullivan, Jing-Jia Luo, Anthony C Hirst, Daohua Bi, Wenju Cai, Jinhai He
During year-to-year El Niño events in recent decades, major sea surface warming has occurred frequently in the central Pacific. This is distinct from the eastern Pacific warming pattern during canonical El Niño events. Accordingly, the central-Pacific El Niño exerts distinct impacts on ecosystems, climate and hurricanes worldwide. The increased frequency of the new type of El Niño presents a challenge not only for the understanding of El Niño dynamics and its change but also for the prediction of El Niño and its global impacts at present and future climate...
December 5, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27917688/congenital-thumb-anomalies-and-the-consequences-for-daily-life-patients-long-term-experience-after-corrective-surgery-a-qualitative-study
#19
I K Carlsson, L B Dahlin, H-E Rosberg
PURPOSE: The aim of the study was to explore patients' long-term experience of a congenital hand problem, and the consequences for daily life. METHOD: Fifteen participants with a median age 24 years (17-55 years), born with thumb hypoplasia/aplasia or thumb duplication were interviewed using a semi-structured interview guide. The interviews were subjected to qualitative content analysis. RESULTS: Although the mobility and strength in the thumb/hand(s) varied within the group, hand function was generally described as good...
December 5, 2016: Disability and Rehabilitation
https://www.readbyqxmd.com/read/27917373/are-escherichia-coli-pathotypes-still-relevant-in-the-era-of-whole-genome-sequencing
#20
REVIEW
Roy M Robins-Browne, Kathryn E Holt, Danielle J Ingle, Dianna M Hocking, Ji Yang, Marija Tauschek
The empirical and pragmatic nature of diagnostic microbiology has given rise to several different schemes to subtype E.coli, including biotyping, serotyping, and pathotyping. These schemes have proved invaluable in identifying and tracking outbreaks, and for prognostication in individual cases of infection, but they are imprecise and potentially misleading due to the malleability and continuous evolution of E. coli. Whole genome sequencing can be used to accurately determine E. coli subtypes that are based on allelic variation or differences in gene content, such as serotyping and pathotyping...
2016: Frontiers in Cellular and Infection Microbiology
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