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https://www.readbyqxmd.com/read/27933642/bilateral-choanal-atresia-in-an-adult-woman-with-pycnodysostosis
#1
Ceren Damla Durmaz, Vedat Taş, Pınar Kocaay, Omer Suat Fitöz, Hüseyin Onay, Süha Beton, Ferda Özkınay, Hatice Ilgın Ruhi
No abstract text is available yet for this article.
December 9, 2016: Congenital Anomalies
https://www.readbyqxmd.com/read/27932178/extra-anatomical-meso-portal-venous-jump-graft-repair-for-early-portal-vein-thrombosis-after-liver-transplant-in-an-infant-with-a-hypoplastic-portal-vein-a-case-report
#2
R Matsumoto, K Uchida, S Nishida, E R Island, D M Levi, J Fan, A Tekin, G Selvaggi, A G Tzakis
BACKGROUND AND PURPOSE: Small infants with biliary atresia and hypoplastic portal veins (PV) are at risk for portal vein thrombosis (PVT) after liver transplantation (LT), which can lead to graft loss and mortality. Extra-anatomical PV reconstruction techniques have been established for adult cases of PVT; however, they have not been widely accepted for infants. METHODS: Here, we report the successful use of an extra-anatomical meso-portal venous jump graft to treat early PVT after LT in a 6-month-old infant with biliary atresia and PV hypoplasia...
November 2016: Transplantation Proceedings
https://www.readbyqxmd.com/read/27932172/liver-transplantation-in-an-adult-recipient-with-situs-inversus-totalis-case-report-and-review-of-the-literature
#3
P Tabrizian, T T Joseph, P Radkani, E Cohen, M Facciuto
BACKGROUND: Over the past few decades, reports have demonstrated the feasibility of liver transplantation in adult patients with situs inversus. However, this disease entity remains rare and experience remains limited in adult recipients with situs inversus undergoing transplantation. METHODS: A 23-year-old woman with situs inversus totalis and end-stage liver disease secondary to congenital biliary atresia was referred to our center and underwent a successful orthotopic liver transplantation...
November 2016: Transplantation Proceedings
https://www.readbyqxmd.com/read/27931749/-hereditary-epidermolysis-bullosa-french-national-guidelines-pnds-for-diagnosis-and-treatment
#4
C Chiaverini, E Bourrat, J Mazereeuw-Hautier, S Hadj-Rabia, C Bodemer, J-P Lacour
Hereditary epidermolysis bullosa (EB) is a heterogeneous group of rare genetic diseases characterized by fragile skin and/or mucous membrane, and it may be either local or generalized. It is caused by mutations in genes encoding different proteins involved mainly in the structure and function of the dermal-epidermal junction. Nineteen genes have so far been identified. They are classified by level of skin cleavage (from top to bottom) into four groups: EB simplex, junctional EB, dystrophic EB and Kindler syndrome...
December 5, 2016: Annales de Dermatologie et de Vénéréologie
https://www.readbyqxmd.com/read/27928258/evaluation-of-pulse-oximetry-in-the-early-detection-of-cyanotic-congenital-heart-disease-in-newborns
#5
Amir Hosein Movahedian, Ziba Mosayebi, Setareh Sagheb
Background: Delayed or missed diagnosis of critical and cyanotic congenital heart disease (CHD) in asymptomatic newborns may result in significant morbidity and mortality. The aim of this study was to determine the accuracy of pulse oximetry screening performed on the first day of life for the early detection of critical and cyanotic CHD in apparently normal newborns. Methods: This cross-sectional study used postductal pulse oximetry to evaluate term neonates born between 2008 and 2011 with normal physical examinations...
April 13, 2016: Journal of Tehran Heart Center
https://www.readbyqxmd.com/read/27923943/venovenous-ecmo-support-in-an-infant-with-single-ventricle-physiology-and-catastrophic-pulmonary-venous-abnormalities
#6
Richard P Fernandez, Don Hayes, Patrick I McConnell, Darren Berman
Extracorporeal membrane oxygenation (ECMO) is an accepted treatment modality for life support refractory to conventional efforts in neonates with complex congenital heart lesions. Cannulation for ECMO can be accomplished by venovenous (VV) access where patients receive primarily respiratory support or venoarterial (VA) access which provides complete cardiopulmonary support. VV ECMO delivered by a single-vessel cannulation with a dual-chamber venous cannula allows for respiratory support while the patient remains dependent upon intrinsic cardiac function to support hemodynamics...
December 6, 2016: World Journal for Pediatric & Congenital Heart Surgery
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/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
#8
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/27920635/clinical-and-molecular-characterisation-of-children-with-pierre-robin-sequence-and-additional-anomalies
#9
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/27914924/the-management-of-childhood-liver-diseases-in-adulthood
#10
REVIEW
D Joshi, N Gupta, M Samyn, M Deheragoda, F Dobbels, M A Heneghan
An increasing number of patients with childhood liver disease survive into adulthood. These young adults are now entering adult services and require ongoing management. Aetiologies can be divided into liver diseases that develop in young adults which present to adult hepatologists i.e. biliary atresia and Alagille syndrome or liver diseases that occur in children/adolescents and adults i.e. autoimmune hepatitis or Wilson's disease .To successfully manage these young adults, a dynamic and responsive transition service is essential...
November 30, 2016: Journal of Hepatology
https://www.readbyqxmd.com/read/27913724/novel-application-of-steroid-eluting-stents-in-choanal-atresia-repair-a-case-series
#11
John N Bangiyev, Nandini Govil, Anthony Sheyn, Michael Haupert, Prasad John Thottam
PURPOSE: To describe the application of mometasone furoate eluting sinus stent technology in the treatment of choanal atresia (CA) in the hopes of preventing postsurgical stenosis. METHODS: We analyzed 3 consecutive patients aged 4 days to 16 years undergoing repair of CA at a tertiary pediatric hospital. Mometasone furoate eluting sinus stents were placed intraoperatively. Postoperative need for revision surgery as well as routine surveillance endoscopy were used to determine success of surgery...
January 2017: Annals of Otology, Rhinology, and Laryngology
https://www.readbyqxmd.com/read/27911065/-gastric-tube-esophagoplasty-using-the-retroesternal-route-in-children
#12
L García Martínez, J A Molino Gahete, S Redecillas Ferreiro, E Bordón Cabrera, J Bueno Recio, G Guillén Burrieza, C Giné Prades, A Lara Valtueña, J Lloret Roca
INTRODUCTION: Esophageal replacement is a surgical alternative once native esophagus can't be preserved. Different organs and routes for the replacement have been described, being the retroesternal route the least used. The aim is to present our results using gastric tube esophagoplasty with a retroesternal approach. PATIENTS AND METHODS: We performed a retrospective and descriptive study of 11 patients operated from 2000 to 2015. Median age at surgery was 2.2 years (5 months-9 years) and median weight was 11...
January 25, 2016: Cirugía Pediátrica: Organo Oficial de la Sociedad Española de Cirugía Pediátrica
https://www.readbyqxmd.com/read/27911064/-intestinal-stomas-are-they-as-simple-as-they-seem
#13
P Bragagnini Rodríguez, Y González Ruiz, R Fernández Atuán, N González Martínez-Pardo, P Burgués Prado, J Elías Pollina
OBJECTIVES: To examine the morbidity and mortality of the formation and closure of enterostomies. METHODS: Retrospective study between 2000-2014 of patients younger than 14 years old who underwent an enterostomy. We evaluated: surgical technique, underlying pathology, general and stoma complications, sex, age and weight at the time of formation. At the closure we evaluated: surgical technique, age, weight, hemoglobin, hematocrit and albumin, as well as complications...
January 25, 2016: Cirugía Pediátrica: Organo Oficial de la Sociedad Española de Cirugía Pediátrica
https://www.readbyqxmd.com/read/27901103/fsh-protects-mouse-granulosa-cells-from-oxidative-damage-by-repressing-mitophagy
#14
Ming Shen, Yi Jiang, Zhiqiang Guan, Yan Cao, Shao-Chen Sun, Honglin Liu
Oxidative stress has been implicated in triggering granulosa cell (GC) death during follicular atresia. Recent studies suggested that follicle-stimulating hormone (FSH) has a pivotal role in protecting GCs from oxidative injury, although the exact mechanism remains largely unknown. Here, we report that FSH promotes GC survival by inhibiting oxidative stress-induced mitophagy. The loss of GC viability caused by oxidative stress was significantly reduced after FSH treatment, which was correlated with impaired activation of mitophagy upon oxidative stress...
November 30, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27899867/a-very-rare-case-of-co-existence-of-cor-triatriatum-sinister-and-left-pulmonary-vein-atresia
#15
Mustafa Aparci, Murat Yalcin, Zafer Isilak, Mehmet Dogan, Ejder Kardesoglu
Cor triatriatum sinister (CTS) is a rare congenital abnormality. Clinical presentation of patients with CTS mainly depends on the anatomic features of membrane and may vary from mild or moderate symptoms mimicking mitral stenosis to more severe and complicated cardioembolic stroke or a new onset heart failure. We herein have reported on a young male who presented with the signs and symptoms of mitral stenosis and was diagnosed as CTS with gradient on the orifice of the membrane after transthrocacic echocardiography...
November 2016: Acta Cardiologica Sinica
https://www.readbyqxmd.com/read/27898353/a-case-report-of-laparoscopic-duodenal-atresia-repair-in-a-neonate-using-a-novel-miniature-stapling-device
#16
Yoon Jung Boo, Jan Gödeke, Veronika Engel, Oliver J Muensterer
INTRODUCTION: Laparoscopic duodenal atresia repair is an advanced procedure performed in select pediatric surgical centers. Recently, sub-6mm endosurgical staplers have been introduced, facilitating and accelerating the creation of intracorporeal intestinal anastomoses. PRESENTATION OF CASE: We performed a laparoscopic duodenojejunostomy in a one-day-old child with duodenal atresia due to annular pancreas using a novel 5.8mm articulating endostapler with excellent outcome...
November 22, 2016: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/27896503/effect-of-pgc-1%C3%AE-overexpression-or-silencing-on-mitochondrial-apoptosis-of-goat-luteinized-granulosa-cells
#17
Guo-Min Zhang, Ming-Tian Deng, Yan-Li Zhang, Yi-Xuan Fan, Yong-Jie Wan, Hai-Tao Nie, Zi-Yu Wang, Feng Wang, Zhi-Hai Lei
During goat follicular development, abnormal expression of peroxisome proliferator- activated receptor gamma coactivator-1 alpha (PGC-1α) in granulosa cells (GCs) may contribute to follicular atresia with unknown regulatory mechanisms. In this study, we investigate the effect of ectopic expression or interference of PGC-1α on cell apoptosis of goat first passage granulosa cells (FGCs) in vitro. The results indicate that PGC-1α silencing by short hairpin RNA (shRNA) in goat FGCs significantly reduced mitochondrial DNA (mtDNA) copy number (P < 0...
November 28, 2016: Journal of Bioenergetics and Biomembranes
https://www.readbyqxmd.com/read/27896423/long-term-outcomes-following%C3%A2-h-type-tracheoesophageal-fistula%C3%A2-repair-in-infants
#18
Augusto Zani, Luai Jamal, Giovanni Cobellis, Justyna M Wolinska, Samuel Fung, Evan J Propst, Priscilla P L Chiu, Agostino Pierro
PURPOSE: To evaluate outcomes following repair of H-type tracheoesophageal fistula (TEF). METHODS: Retrospective chart review of infants with H-type TEF treated at our institution between 2000 and 2014. Patient demographics, surgical management, and postoperative function were evaluated. RESULTS: Of the 268 patients with esophageal atresia/TEF treated at our center, 16 (6%) had an H-type TEF (10 males). Thirteen (81%) had associated anomalies...
November 28, 2016: Pediatric Surgery International
https://www.readbyqxmd.com/read/27896174/congenital-pouch-colon-with-rectal-atresia-a-rare-association
#19
Bilal Mirza, Muhammad Saleem
No abstract text is available yet for this article.
October 2016: Journal of Neonatal Surgery
https://www.readbyqxmd.com/read/27896173/closed-gastroschisis-with-vanished-small-bowel-and-jejunal-atresia
#20
R S Sisodiya, S S Panda, C K Gupta, S K Sinha
No abstract text is available yet for this article.
October 2016: Journal of Neonatal Surgery
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