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https://www.readbyqxmd.com/read/28922493/combined-use-of-clauss-and-prothrombin-time-derived-methods-for-determining-fibrinogen-concentrations-screening-for-congenital-dysfibrinogenemia
#1
Liqun Xiang, Meiling Luo, Jie Yan, Lin Liao, Weijie Zhou, Xuelian Deng, Donghong Deng, Peng Cheng, Faquan Lin
BACKGROUND: In this study, the significance of fibrinogen concentration assessed by a combination of Clauss and prothrombin time (PT)-derived methods for screening for congenital dysfibrinogenemia were investigated, and the screening efficiency of fibrinogen PT-derived/Clauss ratio on congenital dysfibrinogenemia was analyzed. METHODS: We compared fibrinogen concentrations determined by the Clauss, PT-derived, and enzyme-linked immunosorbent assay (ELISA) methods in 73 patients with congenital dysfibrinogenemia and 81 normal controls...
September 18, 2017: Journal of Clinical Laboratory Analysis
https://www.readbyqxmd.com/read/28922348/stem-cell-biology-and-regenerative-medicine-for-neonatal-lung-diseases
#2
REVIEW
Martin Kang, Bernard Thébaud
Lung diseases remain one of the main causes of morbidity and mortality in neonates. Cell therapy and regenerative medicine have the potential to revolutionize the management of life-threatening and debilitating lung diseases that currently lack effective treatments. Over the past decade, the repair capabilities of stem/progenitor cells has been harnessed to prevent/rescue lung damage in experimental neonatal lung diseases. Mesenchymal stromal cells and amnion epithelial cells exert pleiotropic effects and represent ideal therapeutic cells for bronchopulmonary dysplasia, a multifactorial disease...
September 18, 2017: Pediatric Research
https://www.readbyqxmd.com/read/28922239/cleft-lip-and-palate-an-experience-of-a-developing-center-in-egypt
#3
Tarek A Abulezz
BACKGROUND: Cleft lip and palate is the most common congenital anomaly in the head and neck region. These clefts are not just a distortion of the normal appearance, but they may impose a major influence on the whole patient's life, both functionally and psychologically. Clefts affect feeding, teething, hearing, speech, and social communication. The incidence of cleft lip and palate is variable in different countries and different communities. The surgical correction of cleft lip and palate went through many evolutions, but still there is no single universal protocol of repair; however, many European countries have adopted national protocols and have established cleft centers for the management and follow up of affected population...
September 15, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28922234/consensus-statement-by-the-congenital-cardiac-anesthesia-society-milestones-for-the-pediatric-cardiac-anesthesia-fellowship
#4
Viviane G Nasr, Nina A Guzzetta, Wanda C Miller-Hance, Mark Twite, Gregory J Latham, Luis Zabala, Susan C Nicolson, Emad B Mossad, James A DiNardo
Pediatric cardiac anesthesiology has evolved as a subspecialty of both pediatric and cardiac anesthesiology and is devoted to caring for individuals with congenital heart disease ranging in age from neonates to adults. Training in pediatric cardiac anesthesia is a second-year fellowship with variability in both training duration and content and is not accredited by the Accreditation Council on Graduate Medical Education. Consequently, in this article and based on the Accreditation Council on Graduate Medical Education Milestones Model, an expert panel of the Congenital Cardiac Anesthesia Society, a section of the Society of Pediatric Anesthesiology, defines 18 milestones as competency-based developmental outcomes for training in the pediatric cardiac anesthesia fellowship...
September 14, 2017: Anesthesia and Analgesia
https://www.readbyqxmd.com/read/28922188/new-insights-into-the-role-of-glycosylation-in-lipoprotein-metabolism
#5
Marjolein A W van den Boogert, Daniel J Rader, Adriaan G Holleboom
PURPOSE OF REVIEW: Human genetics has provided new insights into the role of protein glycosylation in regulating lipoprotein metabolism. Here we review these new developments and discuss the biological insights they provide. RECENT FINDINGS: Case descriptions of patients with congenital defects in N-glycosylation (CDG-I) frequently describe a distinct hypocholesterolemia in these rare multisystem clinical syndromes. Two novel CDGs with disturbed Golgi homeostasis and trafficking defects result in mixed glycosylation disorders, hepatic steatosis and hypercholesterolemia...
September 15, 2017: Current Opinion in Lipidology
https://www.readbyqxmd.com/read/28922055/nance-horan-syndrome-in-females-due-to-a-balanced-x-1-translocation-that-disrupts-the-nhs-gene-familial-case-report-and-review-of-the-literature
#6
Laura Gómez-Laguna, Alejandro Martínez-Herrera, Alejandra Del Pilar Reyes-de la Rosa, Constanza García-Delgado, Karem Nieto-Martínez, Fernando Fernández-Ramírez, Tania Yanet Valderrama-Atayupanqui, Ariadna Berenice Morales-Jiménez, Judith Villa-Morales, Susana Kofman, Alicia Cervantes, Verónica Fabiola Morán-Barroso
The Nance-Horan syndrome is an X-linked disorder characterized by congenital cataract, facial features, microcornea, microphthalmia, and dental anomalies; most of the cases are due to NHS gene mutations on Xp22.13. Heterozygous carrier females generally present less severe features, and up to 30% of the affected males have intellectual disability. We describe two patients, mother and daughter, manifesting Nance-Horan syndrome. The cytogenetic and molecular analyses demonstrated a 46,X,t(X;1)(p22.13;q22) karyotype in each of them...
September 18, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28921937/ventricular-assist-device-use-in-single-ventricle-congenital-heart-disease
#7
REVIEW
Waldemar F Carlo, Chet R Villa, Ashwin K Lal, David L Morales
As VAD have become an effective therapy for end-stage heart failure, their application in congenital heart disease has increased. Single ventricle congenital heart disease introduces unique physiologic challenges for VAD use. However, with regard to the mixed clinical results presented within this review, we suggest that patient selection, timing of implant, and center experience are all important contributors to outcome. This review focuses on the published experience of VAD use in single ventricle patients and details physiologic challenges and novel approaches in this growing pediatric and adult population...
September 15, 2017: Pediatric Transplantation
https://www.readbyqxmd.com/read/28921932/fetal-mri-compared-to-ultrasound-for-the-diagnosis-of-obstructive-genital-malformations
#8
Anne Elodie Millischer, David Grevent, Véronique Rousseau, Neil O'Gorman, Pascale Sonigo, Bettina Bessieres, Yves Ville, Nathalie Boddaert, Laurent J Salomon
OBJECTIVE: To compare the accuracy of Magnetic Resonance Imaging (MRI) and ultrasound (US) to diagnose and characterize congenital obstructive genital abnormalities. METHOD: Retrospective cohort of 20 fetuses who underwent a fetal MRI following an ultrasound diagnosis of obstructive urogenital malformation. We compared MRI and US findings and their correlation with the definitive diagnosis. RESULT: The correct diagnosis was obtained in 6/20 (30%) cases and 19/20 cases (95%) with US and MRI respectively...
September 16, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28921728/undifferentiated-connective-tissue-diseases-and-adverse-pregnancy-outcomes-an-undervalued-association
#9
REVIEW
Arsenio Spinillo, Fausta Beneventi, Roberto Caporali, Veronique Ramoni, Carlomaurizio Montecucco
Undifferentiated connective tissue diseases (UCTDs) are a heterogeneous group of disorders characterized by symptoms and signs suggestive of systemic autoimmune rheumatic disease (ARD), but which do not fulfill all the established criteria for definite diagnosis of a condition. Although a third of UCTDs can progress to a definite ARD within months or years, most UCTDs can remain stable for years with minimal disease activity. The annual incidence of UCTD in the general population ranges from 14 to 140 per 100 000 people...
September 16, 2017: American Journal of Reproductive Immunology: AJRI
https://www.readbyqxmd.com/read/28920943/expression-function-and-regulation-of-the-embryonic-transcription-factor-tbx1-in-parathyroid-tumors
#10
Chiara Verdelli, Laura Avagliano, Vito Guarnieri, Filomena Cetani, Stefano Ferrero, Leonardo Vicentini, Edoardo Beretta, Alfredo Scillitani, Pasquale Creo, Gaetano Pietro Bulfamante, Valentina Vaira, Sabrina Corbetta
Transcription factors active in embryonic parathyroid cells can be maintained in adult parathyroids and be involved in tumorigenesis. TBX1, the candidate gene of 22q11.2-DiGeorge syndrome, which includes congenital hypoparathyroidism, is involved in parathyroid embryogenesis. The study aimed to investigate expression, function, and regulation of the parathyroid embryonic transcription factor TBX1 in human parathyroid adult normal and tumor tissues. TBX1 transcripts were detected in normal parathyroids and were deregulated in parathyroid tumors...
September 18, 2017: Laboratory Investigation; a Journal of Technical Methods and Pathology
https://www.readbyqxmd.com/read/28920499/tactile-radar-experimenting-a-computer-game-with-visually-disabled
#11
Virgínia Kastrup, Alvaro Cassinelli, Paulo Quérette, Niklas Bergstrom, Eliana Sampaio
BACKGROUND: Visually disabled people increasingly use computers in everyday life, thanks to novel assistive technologies better tailored to their cognitive functioning. Like sighted people, many are interested in computer games - videogames and audio-games. Tactile-games are beginning to emerge. The Tactile Radar is a device through which a visually disabled person is able to detect distal obstacles. In this study, it is connected to a computer running a tactile-game. The game consists in finding and collecting randomly arranged coins in a virtual room...
September 18, 2017: Disability and Rehabilitation. Assistive Technology
https://www.readbyqxmd.com/read/28920487/unilateral-dislocation-of-the-posterior-tibialis-tendon-ptt-and-flexor-digitorum-longus-tendon-with-contralateral-ptt-subluxation-in-a-patient-with-congenitally-shallow-flexor-groove
#12
Jacob E Waldron, Andrew S Bernhardson, Todd A Fellars
INTRODUCTION: Flexor tendon dislocation from the flexor tendon groove posterior of the medial malleolus has been previously described, and may be difficult to diagnose initially, but is amendable to surgical treatment with good outcomes. We present a unique case of unilateral dislocation of the posterior tibialis and flexor digitorum longus tendons with contralateral flexor digitorum longus subluxation that was treated surgically with a good outcome. CASE PRESENTATION: A 37-year-old active duty male sustained a dislocation and subluxation of the flexor tendons bilaterally after a forced dorsiflexion injury...
October 2017: Foot & Ankle Specialist
https://www.readbyqxmd.com/read/28920067/a-history-of-dystonia-ancient-to-modern
#13
REVIEW
Rachel E Newby, Deborah E Thorpe, Peter A Kempster, Jane E Alty
Before 1911, when Hermann Oppenheim introduced the term dystonia, this movement disorder lacked a unifying descriptor. While words like epilepsy, apoplexy, and palsy have had their meanings since antiquity, references to dystonia are much harder to identify in historical documents. Torticollis is an exception, although there is difficulty distinguishing dystonic torticollis from congenital muscular torticollis. There are, nevertheless, possible representations of dystonia in literature and visual art from the pre-modern world...
July 2017: Movement Disorders Clinical Practice
https://www.readbyqxmd.com/read/28920017/esophageal-atresia-with-tracheo-esophageal-fistula-presenting-beyond-7-days
#14
Nilesh Nagdeve, Mohini Sukhdeve, Tushar Thakre, Suresh Morey
AIM: To describe our experience of neonates with esophageal atresia with tracheo-esophageal fistula (EA with TEF) who presented after a week. DESIGN: Retrospective study of the patients of EA with TEF who presented after a week. STUDY SETTING: Department of Pediatric Surgery, Government Medical College Nagpur. Study Duration: Eight years. MATERIALS AND METHODS: Demographic information, hematological, biochemical and radiological data were obtained from the patients' medical records...
July 2017: Journal of Neonatal Surgery
https://www.readbyqxmd.com/read/28919830/identification-of-patients-with-congenital-hemophilia-in-a-large-electronic-health-record-database
#15
Michael Wang, Anissa Cyhaniuk, David L Cooper, Neeraj N Iyer
BACKGROUND: Electronic health records (EHRs) are an important source of information with regard to diagnosis and treatment of rare health conditions, such as congenital hemophilia, a bleeding disorder characterized by deficiency of factor VIII (FVIII) or factor IX (FIX). OBJECTIVE: To identify patients with congenital hemophilia using EHRs. DESIGN: An EHR database study. SETTING: EHRs were accessed from Humedica between January 1, 2007, and July 31, 2013...
2017: Journal of Blood Medicine
https://www.readbyqxmd.com/read/28919627/ebstein-s-anomaly-associated-with-atrial-septal-defect-and-wolff-parkinson-white-wpw-syndrome
#16
M N Hasan, K Ahmed, S M Ahmed, M M Rahman
Ebstein's anomaly is a rare congenital heart disorder, accounting for <1% of all cases of congenital heart disease. It is a congenital malformation of the heart that is characterized by apical displacement of the septal and posterior tricuspid valve leaflets, leading to atrialization of the right ventricle with a variable degree of malformation and displacement of the anterior leaflet. We report the case of a 25 years old female with Ebstein's anomaly which was associated with Ostium Secundum type of atrial septal defect and WPW syndrome, who presented with dyspnea, palpitations, cyanosis, clubbing and cardiomegaly...
July 2017: Mymensingh Medical Journal: MMJ
https://www.readbyqxmd.com/read/28919624/frequency-distribution-of-congenital-anomaly-and-associated-maternal-risk-factors
#17
K Fatema, T Das, A Mannan, S M Zaman
This study was done to find out the maternal risk factors associated with congenital anomaly. This cross-sectional observational study was carried out in the Department of Obstetrics and Gynaecology, Bangabandhu Sheikh Mujib Medical University (BSMMU) Hospital, Dhaka, Bangladesh from January 2011 to December 2011. During this study period 78 patients had pregnancy with congenital anomaly and delivered in the Department of Obstetrics and Gynaecology. Women with ultrasound report of congenitally abnormal fetus irrespective of gestational age were included...
July 2017: Mymensingh Medical Journal: MMJ
https://www.readbyqxmd.com/read/28919619/comparison-of-serum-bilirubin-with-transcutaneous-bilirubinometry-in-late-preterm-and-term-newborn
#18
N Nahar, M A Mannan, A C Dey, F Ahmed, K A Khan, I Jahan, S K Dey, M Shahidullah
Neonatal jaundice or hyperbilirubinemia is a common occurrence in newborns. It can progress to develop kernicterus unless intervention is initiated. Severity and decision for management are usually based on serum bilirubin which needs blood sampling. Transcutaneous bilirubin measurement is a noninvasive technique and correlates closely with serum bilirubin. This Cross sectional study was done in the Department of Neonatology, Bangabandhu Sheikh Mujib Medical University from March 2013 to August 2014 to evaluate the transcutaneous bilirubin in comparison to serum bilirubin...
July 2017: Mymensingh Medical Journal: MMJ
https://www.readbyqxmd.com/read/28919604/correlation-of-stature-with-foot-length-in-5-10-years-aged-bangladeshi-children
#19
M Ismatsara, M Khalil, S Mannan, M T Alam, M M Rahman, Z Ahmed, E Z Epsi, A Kabir, S Farjan, R S Zisa
This cross sectional, descriptive and analytic type study was conducted among 5-10 years aged Bangladeshi children at different areas of Mymensingh district (Fulpur, Muktagacha, Fulbaria, Trisal and Haluaghat) on 109 Bangladeshi children (70 male and 39 female) from January 2016 to December 2016. Sample collection was done by nonrandom purposive sampling technique. Any kind of foot deformity resulting either from congenital or physical injury were excluded to construct standard measurement. The present anthropometric study was designed to construct data of 5 to 10 years aged Bangladeshi children regarding foot length, to measure correlation of stature with foot length and an attempt has been made out to grow interest among the researchers for future study and also to compare the data with the data of the people of other races...
July 2017: Mymensingh Medical Journal: MMJ
https://www.readbyqxmd.com/read/28919577/some-properties-of-three-%C3%AE-b-crystallin-mutants-carrying-point-substitutions-in-the-c-terminal-domain-and-associated-with-congenital-diseases
#20
Evgenia S Gerasimovich, Sergei V Strelkov, Nikolai B Gusev
Physico-chemical properties of G154S, R157H and A171T mutants of αB-crystallin (HspB5) associated with congenital human diseases including certain myopathies and cataract were investigated. Oligomers formed by G154S and A171T mutants have the size and apparent molecular weight indistinguishable from those of the wild-type HspB5, whereas the size of oligomers formed by R157H mutant is slightly smaller. All mutants are less thermostable and start to aggregate at a lower temperature than the wild-type protein...
September 14, 2017: Biochimie
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