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https://www.readbyqxmd.com/read/28730136/early-diagnosis-of-abcb11-spectrum-liver-disorders-by-next-generation-sequencing
#1
Su Jeong Lee, Jung Eun Kim, Byung-Ho Choe, An Na Seo, Han-Ik Bae, Su-Kyeong Hwang
PURPOSE: The goal of this study was the early diagnosis of ABCB11 spectrum liver disorders, especially those focused on benign recurrent intrahepatic cholestasis and progressive familial intrahepatic cholestasis. METHODS: Fifty patients presenting neonatal cholestasis were evaluated to identify underlying etiologies. Genetic analysis was performed on patients suspected to have syndromic diseases or ABCB11 spectrum liver disorders. Two families with proven ABCB11 spectrum liver disorders were subjected to genetic analyses to confirm the diagnosis and were provided genetic counseling...
June 2017: Pediatric Gastroenterology, Hepatology & Nutrition
https://www.readbyqxmd.com/read/28730131/clinical-study-of-congenital-esophageal-stenosis-comparison-according-to-association-of-esophageal-atresia-and-tracheoesophageal-fistula
#2
Soo-Hong Kim, Hyun-Young Kim, Sung-Eun Jung, Seong-Cheol Lee, Kwi-Won Park
PURPOSE: Congenital esophageal atresia (CES) is a rare congenital disease. The severity of symptoms is variable; thus, diagnosis is difficult and tends to be delayed. CES is frequently accompanied by esophageal atresia (EA) with/without tracheoesophageal fistula (TEF). We investigated the characteristics of CES by reviewing our experience with CES patients and researched the differences between CES with EA-TEF and isolated CES. METHODS: A total of 31 patients underwent operations for CES were reviewed retrospectively...
June 2017: Pediatric Gastroenterology, Hepatology & Nutrition
https://www.readbyqxmd.com/read/28728243/-the-treatment-effect-of-eustachian-tube-atresia-with-laser-and-connical-plastic-tube-after-radiotherapy-for-nasopharyngeal-carcinoma
#3
H G Gao, J Tong, W W Chen
Objective: To investigate the method in treatment of Eustschian tube atresia caused by radiotherapy. Methods: Two cases diagnosed of Eustschian tube atresia following radiotherapy were retrospectively analyzed in Department of Otorhinolaryngology, Divided Hospital of Shanghai University Communication Affiliated First People Hospital in Apr. 2014 and Oct. 2015. Both cases were female, 65 and 64 years old, and accepted radiotherapy six and 20 years ago respectively. The pharyngeal orifices of Eustschian tube were found to be totally closed under endoscope...
July 7, 2017: Zhonghua Er Bi Yan Hou Tou Jing Wai Ke za Zhi, Chinese Journal of Otorhinolaryngology Head and Neck Surgery
https://www.readbyqxmd.com/read/28727655/preterm-infants-with-biliary-atresia-a-nationwide-cohort-analysis-from-the-netherlands
#4
Daan B E van Wessel, Thomas Boere, Christian V Hulzebos, Ruben H J de Kleine, Henkjan J Verkade, Jan B F Hulscher
OBJECTIVES: atresia (BA) occurs in 0.54/10.000 of overall live births in The Netherlands. BA has an unfavorable prognosis: less than 40% of patients are cleared of jaundice after Kasai portoenterostomy (KPE), 4-year transplant-free survival rate is 46% and the 4-year survival rate is ∼75%. Little is known on difficulties in diagnosis and the outcome of BA in preterm infants. We aimed to analyze the incidence and outcome of BA in preterm infants in The Netherlands. METHODS: Retrospective study including Dutch preterm infants treated for BA...
July 19, 2017: Journal of Pediatric Gastroenterology and Nutrition
https://www.readbyqxmd.com/read/28727650/acquired-external-auditory-canal-atresia-a-comparison-of-acellular-dermal-matrix-and-split-thickness-skin-grafting-techniques
#5
Michel A Evans, Eric M Sugihara, Eleanor Y Chan
OBJECTIVE: To describe the use of acellular dermal matrix (ADM) in the repair of acquired external auditory canal atresia (AEACA), and compare surgical results to AEACA repair by split-thickness skin grafting (STSG). STUDY DESIGN: Retrospective chart review. SETTING: Neurotology clinical practice. PATIENTS AND INTERVENTION: From 2007 to 2015, 25 AEACA surgeries (8 ADM and 17 STSG) were identified meeting inclusion and exclusion criteria...
July 19, 2017: Otology & Neurotology
https://www.readbyqxmd.com/read/28719404/predictive-factors-for-hearing-outcomes-after-canaloplasty-in-patients-with-congenital-aural-atresia
#6
Jungmin Ahn, Sun Young Baek, Kyunga Kim, Yang-Sun Cho
OBJECTIVE: The aim of this study was to determine the most important factors in preoperative imaging, including components of Jahrsdoefer score (J score), and favorable prognostic factors for postoperative hearing results after canaloplasty for congenital aural atresia. STUDY DESIGN: Retrospective review of medical records. SETTING, PATIENTS, INTERVENTION, MAIN OUTCOME MEASURE: One hundred eight patients who underwent canaloplasty by a single surgeon between January 2011 and July 2014 were included...
July 17, 2017: Otology & Neurotology
https://www.readbyqxmd.com/read/28719049/pulmonary-vein-stenosis-in-patients-with-smith-lemli-opitz-syndrome
#7
Aaron R Prosnitz, Jane Leopold, Mira Irons, Kathy Jenkins, Amy E Roberts
OBJECTIVE: To describe a group of children with co-incident pulmonary vein stenosis and Smith-Lemli-Opitz syndrome and to generate hypotheses as to the shared pathogenesis of these disorders. DESIGN: Retrospective case series. PATIENTS: Five subjects in a pulmonary vein stenosis cohort of 170 subjects were diagnosed with Smith-Lemli-Opitz syndrome soon after birth. RESULTS: All five cases were diagnosed with Smith-Lemli-Opitz syndrome within 6 weeks of life, with no family history of either disorder...
July 18, 2017: Congenital Heart Disease
https://www.readbyqxmd.com/read/28718991/learning-curve-for-the-thoracoscopic-repair-of-esophageal-atresia-with-tracheoesophageal-fistula
#8
Hiroomi Okuyama, Yuko Tazuke, Takehisa Ueno, Hiroaki Yamanaka, Yuichi Takama, Ryuta Saka, Noriaki Usui, Hideki Soh, Takeo Yonekura
AIM: Thoracoscopic repair (TR) of esophageal atresia with tracheoesophageal fistula (EA/TEF) remains a considerable challenge, even for the most experienced pediatric surgeons. The aim of this study is to report the outcomes of our experience with TR of EA/TEF and to determine the learning curve for this procedure. METHODS: Eleven consecutive cases that had undergone TR of EA/TEF at our institutes were included in this study. The medical charts were reviewed retrospectively...
July 18, 2017: Asian Journal of Endoscopic Surgery
https://www.readbyqxmd.com/read/28717867/totally-laparoscopic-living-donor-left-hepatectomy-for-liver-transplantation-in-a-child
#9
Helayel Almodhaiberi, Seok-Hwan Kim, Ki-Hun Kim
BACKGROUND: Minimally invasive surgery has been validated to be a new standard in living donor hepatectomy for adult-to-pediatric transplantation with less morbidity [1]. Laparoscopic donor hepatectomy can reduce the major concerns about pain and morbidity associated with open surgery and a slow return to daily activities of donors [2]. Herein, we present one case of totally laparoscopic living donor left hepatectomy including the middle hepatic vein (MHV). DONOR AND METHOD: A 37-year-old mother volunteered to donate to her 3-year-old son with biliary atresia (PELD score 7)...
July 17, 2017: Surgical Endoscopy
https://www.readbyqxmd.com/read/28716867/syndromic-congenital-diarrhoea-new-spint2-mutation-identified-in-the-uae
#10
Solange Bou Chaaya, Julian D Eason, Bibian N Ofoegbu
We are reporting a new mutation in the SPINT2 gene (c.443G>A (p. Arg148His)) that explains the association of choanal atresia with congenital sodium diarrhoea (CSD) in an Emirati family in the Middle East. To our knowledge, this mutation is neither listed in a mutation database nor described in the literature. Similar to other patients with CSD associated with SPINT2, this child remains dependent on parenteral nutrition for fluids and nutritional support resulting in failure to thrive. The determination of the molecular basis of syndromic CSD will facilitate prenatal and postnatal diagnosis of patients and will contribute to counselling of affected families, especially in areas like the UAE where consanguineous marriages are not uncommon...
July 16, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28716474/cone-beam-computed-tomography-evaluation-of-midpalatal-suture-maturation-in-adults
#11
F Angelieri, L Franchi, L H S Cevidanes, J R Gonçalves, M Nieri, L M Wolford, J A McNamara
The aim of this study was to evaluate midpalatal suture maturation in adults, as observed in cone beam computed tomography (CBCT) images. CBCT scans from 78 subjects (64 female and 14 male, age range from 18 to 66 years) were evaluated. Midpalatal suture maturation was verified on the central cross-sectional axial slice in the superior-inferior dimension of the palate, using methods validated previously. Intra-examiner agreement was analyzed by weighted kappa test. Multinomial logistic regression was used to test whether sex and chronological age (adults <30 years or ≥30 years) could be used as a predictor for the maturational stages of the midpalatal suture...
July 14, 2017: International Journal of Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/28715310/discovering-ways-to-mend-growing-bodies-the-bioengineering-of-devices-for-the-youngest-patients-brings-unique-challenges-and-rewards
#12
David L Chandler
Some babies are born with a rare condition known as esophageal atresia, in which part of the connection between the throat and stomach is missing or nonfunctional. While this was once untreatable and fatal, in recent years surgeons have developed a method using traction to stretch the tissues out on each end until, over time, they are long enough to be sewn together and so substitute for the missing portion of the esophagus. The procedure has allowed many infant patients to go home with a full, normal life ahead of them...
July 2017: IEEE Pulse
https://www.readbyqxmd.com/read/28714498/chondrodysplasia-punctata-a-case-report-of-fetal-warfarin-syndrome
#13
S Songmen, O B Panta, S S Paudel, R K Ghimire
Chondrodysplasia punctata is abnormal calcification in the cartilage of developing bones and has been seen in association with deranged vitamin K metabolism. Warfarin, an oral anticoagulant acting on vitamin K dependent clotting factors is known to cause chondrodysplasia punctata. Despite the knowledge of the condition the management of patients with prosthetic heart valves might require use of the drug for anticoagulation. Here, we present a case of a fetal warfarin syndrome in a second born child of a 27 year lady under warfarin for prosthetic heart valve...
January 2017: Journal of Nepal Health Research Council
https://www.readbyqxmd.com/read/28712853/short-term-evaluation-of-tegumentary-changes-of-the-nose-in-oral-breathers-undergoing-rapid-maxillary-expansion
#14
Fauze Ramez Badreddine, Reginaldo Raimundo Fujita, Mario Cappellette
INTRODUCTION: Rapid maxillary expansion is an orthodontic and orthopedic procedure that can change the form and function of the nose. The soft tissue of the nose and its changes can influence the esthetics and the stability of the results obtained by this procedure. OBJECTIVE: The objective of this study was to assess the changes in nose dimensions after rapid maxillary expansion (RME) in oral breathers with maxillary atresia, using a reliable and reproducible methodology through computed tomography...
June 26, 2017: Brazilian Journal of Otorhinolaryngology
https://www.readbyqxmd.com/read/28712519/contemporary-outcomes-of-infants-with-gastroschisis-in-north-america-a-multicenter-cohort-study
#15
Brenna S Fullerton, Cristine S Velazco, Eric A Sparks, Kate A Morrow, Erika M Edwards, Roger F Soll, Biren P Modi, Jeffrey D Horbar, Tom Jaksic
OBJECTIVE: To quantify outcomes and analyze factors predictive of morbidity and mortality in infants with gastroschisis. STUDY DESIGN: Clinical data regarding neonates with gastroschisis born between 2009 and 2014 were prospectively collected at 175 North American centers. Multivariate regression was used to assess risk factors for mortality and length of stay (LOS). RESULTS: Gastroschisis was diagnosed in 4420 neonates with median birth weight 2410 g (IQR 2105-2747)...
July 13, 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/28711597/micrornas-and-extracellular-vesicles-in-cholangiopathies
#16
REVIEW
P Olaizola, P Y Lee-Law, A Arbelaiz, A Lapitz, M J Perugorria, L Bujanda, J M Banales
Cholangiopathies encompass a heterogeneous group of disorders affecting biliary epithelial cells (i.e. cholangiocytes). Early diagnosis, prognosis and treatment still remain clinically challenging for most of these diseases and are critical for adequate patient care. In the past decade, extensive research has emphasized microRNAs (miRs) as potential non-invasive biomarkers and tools to accurately identify, predict and treat cholangiopathies. MiRs can be released extracellularly conjugated with lipoproteins or encapsulated in extracellular vesicles (EVs)...
July 12, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28710035/association-of-common-genetic-variants-in-vegfa-with-biliary-atresia-susceptibility-in-northwestern-han-chinese
#17
Bailing Liu, Jingli Wei, Miao Li, Jue Jiang, Hui Zhang, Li Yang, Haibin Wu, Qi Zhou
Biliary atresia (BA) is a major neonatal obliterative cholangiopathy, resulting in progressive cirrhosis. The gene VEGFA encodes a heparin-binding protein that is a regulator of angiogenesis and a mediator of inflammatory reactions, and accumulating evidence have indicated that VEGFA may play a possible role in the pathogenesis of BA. Our study aim was to evaluate the association of common variants within the VEGFA gene with BA susceptibility in Northwestern Han Chinese population. Forty tag SNPs within the VEGFA gene were selected in the study, and then subsequently genotyped in 1336 Northwestern Han Chinese individuals, consisting of 311 BA patients and 1025 healthy controls...
July 11, 2017: Gene
https://www.readbyqxmd.com/read/28709660/effect-of-gastrointestinal-malformations-on-the-outcomes-of-patients-with-congenital-heart-disease
#18
Carlos M Mery, Luis E De León, J Rubén Rodriguez, R Michael Nieto, Wei Zhang, Iki Adachi, Jeffrey S Heinle, Lauren C Kane, E Dean McKenzie, Charles D Fraser
BACKGROUND: The goal of this study was to assess the effect of associated gastrointestinal malformations (GI) on the outcomes of patients undergoing congenital heart operations. METHODS: Neonates and infants with thoracic (esophageal atresia, tracheoesophageal fistula) and abdominal (duodenal stenosis/atresia, imperforate anus, Hirschsprung disease) GI malformations undergoing congenital heart operations between 1995 and 2015 were included. Two control groups were created, one for each group...
July 11, 2017: Annals of Thoracic Surgery
https://www.readbyqxmd.com/read/28705814/head-and-neck-mri-findings-in-charge-syndrome
#19
M J Hoch, S H Patel, D Jethanamest, W Win, G M Fatterpekar, J T Roland, M Hagiwara
Coloboma of the eye, Heart defects, Atresia of the choanae, Retardation of growth and/or development, Genital and/or urinary abnormalities, and Ear abnormalities and deafness (CHARGE) syndrome is a disorder with multiple congenital anomalies seen on imaging. A retrospective review of 10 patients with CHARGE syndrome who underwent MR imaging of the brain as part of a preoperative evaluation for cochlear implantation was conducted. Structural abnormalities of the entire MR imaging of the head were evaluated, including the auditory system, olfactory system, face, skull base, and central nervous system...
July 13, 2017: AJNR. American Journal of Neuroradiology
https://www.readbyqxmd.com/read/28705054/radiofrequency-perforation-of-the-pulmonary-valve-an-efficient-low-cost-solution
#20
Stephen C Brown, Bjorn Cools, Derize Boshoff, Ruth Heying, Benedicte Eyskens, Marc Gewillig
Objective The aim of the study was to assess the feasibility of using commonly available catheterization laboratory equipment for radiofrequency perforation of the pulmonary valve in patients with pulmonary atresia and intact ventricular septum. Methods The system (off-label use for all items) is made up of a co-axial telescopic arrangement consisting of a 0.014" PT 2 ™ coronary guidewire, for insulation inside a 2.7-F microcatheter which has an inner lumen of 0.021". The microcatheter was passed via a standard 4-F right coronary catheter to just below the atretic pulmonary valve...
July 14, 2017: Acta Cardiologica
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