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https://www.readbyqxmd.com/read/29793060/a-computational-framework-for-the-detection-of-subcortical-brain-dysmaturation-in-neonatal-mri-using-3d-convolutional-neural-networks
#1
Rafael Ceschin, Alexandria Zahner, William Reynolds, Jenna Gaesser, Giulio Zuccoli, Cecilia W Lo, Vanathi Gopalakrishnan, Ashok Panigrahy
Deep neural networks are increasingly being used in both supervised learning for classification tasks and unsupervised learning to derive complex patterns from the input data. However, the successful implementation of deep neural networks using neuroimaging datasets requires adequate sample size for training and well-defined signal intensity based structural differentiation. There is a lack of effective automated diagnostic tools for the reliable detection of brain dysmaturation in the neonatal period, related to small sample size and complex undifferentiated brain structures, despite both translational research and clinical importance...
May 21, 2018: NeuroImage
https://www.readbyqxmd.com/read/29793015/right-atrial-anomalous-muscle-bundle-presenting-with-acute-superior-vena-cava-syndrome-and-pulmonary-embolism-surgical-management
#2
Jeko M Madjarov, Michael G Katz, Sophia Madjarova, Svetozar Madzharov, Frank R Arko, David W Miller, Francis Robicsek
BACKGROUND: An anomalous muscle bundle crossing the right atrial cavity represents a pathological finding with unproved clinical significance. This congenital anomaly may be difficult to recognize via echocardiography and could be confused with other intra-cavitary lesions. METHODS: We report a case of a 53-year-old female presented to the cardio-vascular service with acute superior vena cava syndrome and sub-massive pulmonary embolism. RESULTS: The patient underwent venography confirming superior vena cava stenosis...
May 21, 2018: Annals of Vascular Surgery
https://www.readbyqxmd.com/read/29792975/bladder-agenesis-and-associated-pelvic-arterial-anomaly-in-two-female-pediatric-patients
#3
Thomas Lowrey, Shellie Josephs, Linda A Baker
Bladder agenesis is an extremely rare congenital anomaly of the genitourinary tract. Two female patients with known diagnoses of bladder agenesis presented for pre-renal transplant evaluation and neobladder creation. Similar unique pelvic arterial malformations were identified through pre-operative imaging and intraoperative examination. With these similar findings, it could be proposed that such anatomical variants are products of the same insult or involve a causal relationship, with vascular aberrancies potentially provoking pelvic organ maldevelopment...
May 21, 2018: Urology
https://www.readbyqxmd.com/read/29792934/pretarsal-skin-height-changes-in-children-receiving-topical-prostaglandin-analogue-therapy-for-primary-congenital-glaucoma
#4
Mohammed Al-Zobidi, Rajiv Khandekar, Augusto Cruz, Randy E Craven, Ches Souru, Rizwan Malik, Deepak P Edward
PURPOSE: To compare pretarsal skin height (PTSH), as proxy indicator of deepening of the upper eyelid sulcus, in children with primary congenital glaucoma (PCG) treated with topical prostaglandin analogues (PGAs) with PTSH in healthy children (control group 1) and children with PCG but not using PGAs (control group 2). METHODS: We recruited children with PCG who had been using PGAs for at least 6 months (PCG/PGA group). PTSH in all participants was measured using ImageJ software from photographs taken in a standardized manner...
May 21, 2018: Journal of AAPOS: the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus
https://www.readbyqxmd.com/read/29792748/portal-vein-thrombosis-imaging-the-spectrum-of-disease-with-an-emphasis-on-mri-features
#5
Reena C Jha, Satinderpal Singh Khera, Amit Dinesh Kalaria
OBJECTIVE: The purpose of this article is to review the classic and uncommon imaging findings of portal vein thrombosis (PVT) (acute, chronic, congenital, and septic thrombus) as visualized on multiple modalities, with an emphasis on MRI findings. Additional aims are to understand the imaging of obliterative portal venopathy and its clinical significance, appreciate morphologic changes of the biliary system that may accompany PVT, and recognize changes in liver enhancement patterns seen with PVT related to the hepatic arterial buffer response...
May 24, 2018: AJR. American Journal of Roentgenology
https://www.readbyqxmd.com/read/29792684/label-free-optical-marker-for-rbc-phenotyping-of-inherited-anaemias
#6
Martina Mugnano, Pasquale Memmolo, Lisa Miccio, Francesco Merola, Vittorio Bianco, Alessia Bramanti, Antonella Gambale, Roberta Russo, Immacolata Andolfo, Achille Iolascon, Pietro Ferraro
The gold standard methods for anaemia diagnosis are the complete blood count and the peripheral smear observation. However, they do not allow for a complete differential diagnosis, which requires biochemical assays, thus being label-dependent techniques. On the other hand, recent studies focus on label-free quantitative phase imaging (QPI) of blood samples to investigate blood diseases by using video-based morphological methods. However, when sick cells are very similar to healthy ones in terms of morphometric features identification of a blood disease becomes challenging even by morphometric as well as QPI...
May 24, 2018: Analytical Chemistry
https://www.readbyqxmd.com/read/29792593/2018-canadian-urological-association-guideline-for-peyronie-s-disease-and-congenital-penile-curvature
#7
Anthony J Bella, Jay C Lee, Ethan D Grober, Serge Carrier, Francois Benard, Gerald B Brock
No abstract text is available yet for this article.
May 2018: Canadian Urological Association Journal, Journal de L'Association des Urologues du Canada
https://www.readbyqxmd.com/read/29792536/outcomes-in-paediatric-external-dacryocystorhinostomy-a-single-centre-experience
#8
Tarjani Vivek Dave, Edak Ezeanosike, Milind N Naik, Mohammad Javed Ali
PURPOSE: To report the outcomes of external dacryocystorhinostomy (Ext DCR) in paediatric patients. METHODS: A single-centre, retrospective, interventional, non-comparative case series was performed on all paediatric patients who underwent Ext DCR between July 2010 and July 2014. Surgery was performed as per standard Ext DCR protocols with only anterior flap suturing. Data collected include demographics, clinical presentations, primary diagnosis, associated systemic anomalies, past interventions, indications for the surgery, use of adjuvants, intraoperative and post-operative complications, aetiology of DCR failure, anatomical and functional successes...
May 24, 2018: Orbit
https://www.readbyqxmd.com/read/29792339/pulmonary-hypertension-in-congenital-heart-disease
#9
Emma Pascall, Robert Mr Tulloh
Pulmonary hypertension is defined as a mean pulmonary arterial pressure ≥25 mmHg. We focus on its relevance in congenital heart disease, reviewing pathophysiology, diagnosis and management. Pulmonary hypertension is a relatively common complication of congenital heart disease, with adult prevalence between 5 and 10%. A multifactorial cause is recognized, relating to the size and nature of cardiac defect as well as environmental and genetic factors. More complex disease is increasingly recognized rather than pure Eisenmenger complex...
May 24, 2018: Future Cardiology
https://www.readbyqxmd.com/read/29792180/screening-for-congenital-fetal-anomalies-in-low-risk-pregnancy-the-kenyatta-national-hospital-experience
#10
Callen Kwamboka Onyambu, Norah Mukiri Tharamba
BACKGROUND: Congenital malformations contribute significantly to the disease burden among children globally. A study conducted in Kenya on understanding the burden of surgical congenital anomalies, highlights the need for Kenyan health systems to go beyond the medical dimensions of illness. This could be achieved by linking knowledge of the severe congenital anomalies (CAs) and their impact of varying disability to the delivery of local health services and public health program planning...
May 23, 2018: BMC Pregnancy and Childbirth
https://www.readbyqxmd.com/read/29792164/a-case-report-of-reversible-generalized-seizures-in-a-patient-with-waardenburg-syndrome-associated-with-a-novel-nonsense-mutation-in-the-penultimate-exon-of-sox10
#11
Noriomi Suzuki, Hideki Mutai, Fuyuki Miya, Tatsuhiko Tsunoda, Hiroshi Terashima, Noriko Morimoto, Tatsuo Matsunaga
BACKGROUND: Waardenburg syndrome type 1 (WS1) can be distinguished from Waardenburg syndrome type 2 (WS2) by the presence of dystopia canthorum. About 96% of WS1 are due to PAX3 mutations, and SOX10 mutations have been reported in 15% of WS2. CASE PRESENTATION: This report describes a patient with WS1 who harbored a novel SOX10 nonsense mutation (c.652G > T, p.G218*) in exon 3 which is the penultimate exon. The patient had mild prodromal neurological symptoms that were followed by severe attacks of generalized seizures associated with delayed myelination of the brain...
May 23, 2018: BMC Pediatrics
https://www.readbyqxmd.com/read/29792118/extracorporeal-membrane-oxygenation-support-in-individuals-with-thoracic-insufficiency
#12
Shelley Hancock, Curtis Froehlich, Veronica Armijo-Garcia, Andrew D Meyer
INTRODUCTION: Respiratory failure is the leading cause of mortality in individuals with congenital spine and rib deformities. We present a case report of a child with Jeune syndrome surviving respiratory failure using extracorporeal membrane oxygenation (ECMO). We also summarize thoracic insufficiency syndrome cases reported in the Extracorporeal Life Support Organization (ELSO) registry. CASE REPORT: A two-year-old male with a chest circumference less than a third percentile for age was admitted with influenza pneumonia developing a peak oxygenation index of 103...
May 1, 2018: Perfusion
https://www.readbyqxmd.com/read/29792046/annals-express-fast-screening-of-n-glycosylation-disorders-by-sialotransferrin-profiling-with-capillary-zone-electrophoresis
#13
Hermi A Kingma, Fjodor H Van der Sluijs, Rebecca M Heiner-Fokkema
BACKGROUND: Congenital disorders of glycosylation (CDG) are a growing group of rare genetic disorders. The most frequently used screening method is sialotransferrin profiling using isoelectric focussing (IEF). Capillary zone electrophoresis (CZE) may be a simple and fast alternative. We investigated the Capillarys ¬T M CDT assay (Sebia, France) to screen for N-glycosylation disorders, using IEF as gold standard. METHODS: Intra- and interassay precision were established, and analyses in heparin-anticoagulated plasma and serum were compared...
January 1, 2018: Annals of Clinical Biochemistry
https://www.readbyqxmd.com/read/29791972/laparoscopic-radical-nephrectomy-for-a-right-renal-tumor-with-renal-vein-tumor-thrombus-in-a-patient-with-situs-inversus-totalis
#14
Jun Ito, Yasuhiro Kaiho, Hiromichi Iwamura, Go Anan, Makoto Sato
Situs inversus totalis (SIT) is a rare congenital anomaly characterized by complete inversion of the thoracic and abdominal organs. Many intra-abdominal and vessel anomalies have been reported in association with SIT. However, there have been no reports on the use of laparoscopic radical nephrectomy with thrombectomy for renal vein thrombus, which is considered as a safe and feasible procedure, in patients with SIT. We herein present the case of an 80-year-old man with SIT who was preoperatively diagnosed with a right renal tumor and renal vein tumor thrombus...
May 23, 2018: Asian Journal of Endoscopic Surgery
https://www.readbyqxmd.com/read/29791932/b3galnt2-related-dystroglycanopathy-expansion-of-the-phenotype-with-novel-mutation-associated-with-muscle-eye-brain-disease-walker-warburg-syndrome-epileptic-encephalopathy-west-syndrome-and-sensorineural-hearing-loss
#15
Muna A Al Dhaibani, Ayman W El-Hattab, Omar Ismayl, Jehan Suleiman
Mutations in B3GALNT2 , encoding a glycosyltransferase enzyme involved in α-dystroglycan glycosylation, have been recently associated with dystroglycanopathy, a well-recognized subtype of congenital muscular dystrophy (CMD). Only a few cases have been reported with B3GALNT2 -related dystroglycanopathy with variable severity ranging from mild CMD to severe muscle-eye-brain disease. Here, we describe a child with a novel homozygous nonsense mutation in B3GALNT2 . The affected child has severe neurological disease since birth, including muscle disease manifested as hypotonia, muscle weakness, and wasting with elevated creatine kinase, eye disease including microphthalmia and blindness, brain disease with extensive brain malformations including massive hydrocephalus, diffuse cobblestone-lissencephaly, deformed craniocervical junction, and pontocerebellar hypoplasia...
May 23, 2018: Neuropediatrics
https://www.readbyqxmd.com/read/29791621/speech-language-pathology-aspects-in-a-pediatric-case-of-head-and-neck-arthrogryposis
#16
Jennifer Alvares Trindade, Jordana da Silva Freitas, Liliane Menzen, Carolina Laux, Lisiane de Rosa Barbosa, Maria Cristina de Almeida Freitas Cardoso
Arthrogryposis is a rare, multiple, congenital syndrome of non-progressive nature characterized by a series of genetic malformations, as well as stiffness and joint contractures. This is a clinical case study whose objective is to describe speech-language pathology disorders through the evaluation process in a case of arthrogryposis in Pediatrics. The medical records of a patient were analyzed from birth. A complete clinical evaluation of pediatric dysphagia was performed, establishing a diagnosis of severe oropharyngeal dysphagia evidenced by functional and structural impairments...
2018: CoDAS
https://www.readbyqxmd.com/read/29791480/complex-interactions-in-a-novel-scn5a-compound-mutation-associated-with-long-qt-and-brugada-syndrome-implications-for-na-channel-blocking-pharmacotherapy-for-de-novo-conduction-disease
#17
Jie Liu, Jason D Bayer, Roozbeh Aschar-Sobbi, Marianne Wauchop, Danna Spears, Michael Gollob, Edward J Vigmond, Robert Tsushima, Peter H Backx, Vijay S Chauhan
BACKGROUND: The SCN5A mutation, P1332L, is linked to a malignant form of congenital long QT syndrome, type 3 (LQT3), and affected patients are highly responsive to the Na+ channel blocking drug, mexiletine. In contrast, A647D is an atypical SCN5A mutation causing Brugada syndrome. An asymptomatic male with both P1332L and A647D presented with varying P wave/QRS aberrancy and mild QTc prolongation which did not shorten measurably with mexiletine. OBJECTIVE: We characterized the biophysical properties of P1332L, A647D and wild-type (WT) Na+ channels as well as their combinations in order to understand our proband's phenotype and to guide mexilitine therapy...
2018: PloS One
https://www.readbyqxmd.com/read/29791178/-rare-combination-of-turner-syndrome-and-congenital-adrenal-hyperplasia-with-21-hydroxylase-deficiency-case-report
#18
Ivana Ságová, Matej Stančík, Dušan Pavai, Daniela Kantárová, Anton Vaňuga, Peter Vaňuga
Combination of Turner syndrome (TS) and classic congenital adrenal hyperplasia (CAH) is rare. Globally, the incidence of CAH, autosomal recessive disorder caused by enzyme defect of steroidogenic pathway, is very low (1 : 10 000-16 000). 90 % of CAH cases are caused by 21-hydroxylase gene mutation (CYP21A2). Globally, the incidencie of Turner syndrome reaches 1 : 2 500. Phenotypically, females with TS may render wide spectrum of clinical features. Dominant symptoms are lowered terminal height and gonadal dysgenesia, ultimately leading to absence of puberty and infertility...
2018: Vnitr̆ní Lékar̆ství
https://www.readbyqxmd.com/read/29790673/n-terminal-probrain-natriuretic-peptide-as-a-biomarker-of-moderate-to-severe-bronchopulmonary-dysplasia-in-preterm-infants-a-prospective-observational-study
#19
Silvia Rodríguez-Blanco, Ignacio Oulego-Erroz, Paula Alonso-Quintela, Sandra Terroba-Seara, Aquilina Jiménez-González, Maite Palau-Benavides
OBJECTIVE: N-terminal-probrain natriuretic peptide (NT-proBNP) is a marker of hemodynamically significant patent ductus arteriosus (HsPDA) in preterm infants. In this study, we assessed whether NT-proBNP levels could predict the risk of moderate to severe bronchopulmonary dysplasia (BPD) and/or death. METHODS: This was an observational prospective study of preterm infants with GA ≤32 weeks. Infants who died within the first 48 h or who had major congenital malformations or incomplete information were excluded...
May 23, 2018: Pediatric Pulmonology
https://www.readbyqxmd.com/read/29790453/thyroid-hypoplasia-in-congenital-hypothyroidism-associated-with-thyroid-peroxidase-mutations
#20
Athanasia Stoupa, Rim Chaabane, Manelle Guériouz, Catherine Raynaud-Ravni, Patrick Nitschke, Christine Bole-Feyset, Mouna Mnif, Leila Ammar Keskes, Mongia Hachicha, Neila Belguith, Michel Polak, Aurore Carré
CONTEXT: Primary congenital hypothyroidism (CH) affects about 1:3000 newborns worldwide and is mainly caused by defects in thyroid gland development (thyroid dysgenesis, TD) or hormone synthesis. A genetic cause is identified in less than 10% of TD patients. Our aim was to identify novel candidate genes in patients with TD using next-generation sequencing tools. PATIENT FINDINGS: We used whole exome sequencing (WES) to study two families, a consanguineous Tunisian family (one child with severe thyroid hypoplasia) and a French family (two newborn siblings, with a thyroid in situ that was not enlarged on ultrasound at diagnosis)...
May 23, 2018: Thyroid: Official Journal of the American Thyroid Association
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