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https://www.readbyqxmd.com/read/28817240/prenatal-presentation-of-mabry-syndrome-with-congenital-diaphragmatic-hernia-and-phenotypic-overlap-with-fryns-syndrome
#1
Kara K Reynolds, Jane Juusola, Gregory M Rice, Philip F Giampietro
We report on a family in which initial features were compatible with Fryns syndrome. The first sibling was a stillborn female with a left diaphragmatic hernia (DH). Her clinical features overlapped with Fryns syndrome. The second pregnancy, a male fetus, was followed for polyhydramnios, hypoplastic mandible, mild enlargement of the fetal bladder, hydronephrosis, and rocker bottom foot deformities. He had facial features similar to his sibling and a large cleft of the secondary palate, small jaw, and secundum atrial septal defect...
August 17, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28809063/color-and-power-doppler-combined-with-fetal-intelligent-navigation-echocardiography-fine-to-evaluate-the-fetal-heart
#2
L Yeo, R Romero
OBJECTIVE: To evaluate the performance of color and bidirectional power Doppler ultrasound combined with Fetal Intelligent Navigation Echocardiography (FINE) in examining the fetal heart. METHODS: A prospective cohort study was conducted of fetuses in the second and third trimesters with a normal heart or with congenital heart disease (CHD). One or more spatiotemporal image correlation (STIC) volume datasets, combined with color or bidirectional power Doppler (S-flow) imaging, were acquired in the apical four-chamber view...
August 14, 2017: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28802373/clinical-curative-effect-and-safety-of-balloon-sinuplasty-in-children-with-chronic-rhinosinusitis
#3
Jia Liu, Zigai Zhao, Yang Chen, Bin Xu, Jiren Dai, Yong Fu
OBJECTIVE: Balloon Sinuplasty for the management of paranasal sinus inflammatory diseases was introduced in otolaryngology in 2005. Over the past decade, evidence strongly supports its safety and efficacy for the treatment of chronic rhinosinusitis (CRS) in adults. Because it requires no bone or tissue removal, this procedure could be suitable in children. We present our initial experience of its use for the treatment of CRS in children. MATERIALS AND METHODS: A prospective study was performed of 30 children with failed medical therapy, who were scheduled for surgery...
September 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/28794089/bilateral-medial-rectus-aplasia-and-a-modified-surgical-approach-of-transposition-myopexy-of-vertical-recti
#4
Pradeep Sharma, Shweta Chaurasia, Abhijit Rasal
A 16-year-old girl presented with left eye large-angle exotropia. On examination, we found bilateral limitation of adduction. CT orbit showed hypoplastic medial rectus bilaterally, but intraoperatively we found absent medial recti on both sides. This case report explains discrepancy between the imaging and the intraoperative findings and discusses the management dilemma in view of the risk of anterior segment ischaemia and how marked exodeviation and adduction limitation was tackled by the new technique of transposition myopexy, a modification of the procedure described by Nishida along with recession of lateral rectus to achieve good alignment...
August 9, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28793912/re-evaluation-of-hypoplastic-left-heart-syndrome-from-a-developmental-and-morphological-perspective
#5
A Crucean, A Alqahtani, D J Barron, W J Brawn, R V Richardson, J O'Sullivan, R H Anderson, D J Henderson, B Chaudhry
BACKGROUND: Hypoplastic left heart syndrome (HLHS) covers a spectrum of rare congenital anomalies characterised by a non-apex forming left ventricle and stenosis/atresia of the mitral and aortic valves. Despite many studies, the causes of HLHS remain unclear and there are conflicting views regarding the role of flow, valvar or myocardial abnormalities in its pathogenesis, all of which were proposed prior to the description of the second heart field. Our aim was to re-evaluate the patterns of malformation in HLHS in relation to recognised cardiac progenitor populations, with a view to providing aetiologically useful sub-groupings for genomic studies...
August 10, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28791817/binder-syndrome-clinical-findings-and-surgical-treatment-of-18-patients-at-the-department-of-plastic-surgery-in-polanica-zdr%C3%A3-j
#6
Piotr H Drozdowski, Ireneusz Łątkowski, Mateusz G Zachara, Piotr Wójcicki
BACKGROUND: Binder syndrome (BS) is an uncommon congenital underdevelopment of the maxilla and nasal skeleton. Other clinical features include a hypoplastic or absent anterior nasal spine; a short, flat nose with short columella; an acute nasolabial angle; a convex upper lip and class III malocclusion. OBJECTIVES: The aim of the study was to outline the major characteristics of BS and to present a variety of surgical treatment methods. MATERIAL AND METHODS: The study included 18 patients treated in the authors' department from 1989 to 2013...
May 2017: Advances in Clinical and Experimental Medicine: Official Organ Wroclaw Medical University
https://www.readbyqxmd.com/read/28790278/-perioperative-care-for-patients-with-hypoplastic-left-heart-syndrome
#7
Yujiro Ide, Kisaburo Sakamoto
Hypoplastic Left Heart Syndrome (HLHS) is one of the most challenging congenital heart defects which require surgical interventions during neonatal period. In normal risk cohort, its surgical outcome has been improved dramatically since Dr. William Norwood reported the 1st successful case more than 30 years ago. The introduction of routine bilateral pulmonary artery banding with subsequent Norwood operation during early infantile( we call it as "rapid 2 stage Norwood operation") has brought an earlier hemodynamic stabilization after Norwood operation...
July 2017: Kyobu Geka. the Japanese Journal of Thoracic Surgery
https://www.readbyqxmd.com/read/28782496/morphological-three-dimensional-analysis-of-papillary-muscles-in-borderline-left-ventricles
#8
Mari N Velasco Forte, Mohamed Nassar, Nick Byrne, Miguel Silva Vieira, Israel V Pérez, Bram Ruijsink, John Simpson, Tarique Hussain
OBJECTIVE: Mitral valve anatomy has a significant impact on potential surgical options for patients with hypoplastic or borderline left ventricle. Papillary muscle morphology is a major component regarding this aspect. The purpose of this study was to use cardiac magnetic resonance to describe the differences in papillary muscle anatomy between normal, borderline, and hypoplastic left ventricles. METHODS: We carried out a retrospective, observational cardiac magnetic resonance study of children (median age 5...
September 2017: Cardiology in the Young
https://www.readbyqxmd.com/read/28781028/hypoplastic-hippocampus-in-atypical-rett-syndrome-with-a-novel-foxg1-mutation
#9
Kotoha Harada, Mayumi Yamamoto, Yukihiko Konishi, Kaori Koyano, Satoru Takahashi, Masanori Namba, Takashi Kusaka
The forkhead box G1 (FOXG1) gene encodes a brain-specific transcription factor and is associated with a congenital variant of atypical Rett syndrome (RTT); several FOXG1 mutations have been identified. The congenital variant of RTT shows a hypoplastic corpus callosum, delayed myelination, and frontal and temporal atrophy. Although no report has described a hippocampal abnormality in humans, the current study suggests that FOXG1 also regulates neurogenesis in the postnatal hippocampus. In the present case, severe developmental delay was observed in a patient with a congenital variant of RTT from about 4months, in conjunction with acquired microcephaly, hypotonia, limited motor function, absent purposeful hand use, and repetitive jerky movements of the upper limbs...
August 3, 2017: Brain & Development
https://www.readbyqxmd.com/read/28780922/post-transplant-lymphoproliferative-disease-is-associated-with-early-sternotomy-and-left-ventricular-hypoplasia-during-infancy-a-population-based-retrospective-review
#10
Britt-Marie Ekman-Joelsson, Håkan Wåhlander, Mats Synnergren, Madeleine Sager, Karin Mellgren
BACKGROUND: Heart transplantation has been an option for children in Sweden since 1989. As our unit faced an increased rate of post-transplant lymphoproliferative disorder, the objective of the study was to identify possible risk factors. METHODS: This is a retrospective study of all children aged 0-18 years who underwent heart transplantation in Gothenburg from 1989 to 2014. RESULTS: A total of 71 children underwent heart transplantation...
August 7, 2017: Cardiology in the Young
https://www.readbyqxmd.com/read/28777229/the-modified-rambo-transcanal-approach-for-cochlear-implantation-in-charge-syndrome
#11
Cameron C Wick, Amy M Moore, Daniel E Killeen, Brandon Isaacson
OBJECTIVE: CHARGE syndrome is associated with a variety of temporal bone anomalies and deafness. The lack of surgical landmarks and facial nerve irregularities make cochlear implantation in this population a challenging endeavor. This study aims to describe a safe and efficacious transcanal approach for cochlear implantation that obviates the need to perform a mastoidectomy and facial recess. PATIENTS: Three children with profound hearing loss secondary to CHARGE syndrome...
August 2, 2017: Otology & Neurotology
https://www.readbyqxmd.com/read/28771955/mineral-features-of-connective-dental-hard-tissues-in-hypoplastic-amelogenesis-imperfecta
#12
Rym Kammoun, Catherine Behets, Lamia Mansour, Sonia Ghoul-Mazgar
To explore the mineral features of dentin and cementum in hypoplastic AI teeth MATERIALS AND METHODS: Forty four (44) teeth cleaned and free of caries were used: 20 control and 24 affected by hypoplastic amelogenesis imperfecta. Thirty-two teeth were studied by pQCT, cut in sections and analysed under microradiography, polarized light microscopy and confocal Raman spectroscopy. Eight teeth were observed under scanning electron microscope. Four teeth were used for an X-ray diffraction. The mineral density data were analysed statistically with the Mann-Whitney U test, using GraphPad InStat Software RESULTS: Both coronal and radicular dentin were less mineralized in AI teeth when compared to control (respectively 6...
August 3, 2017: Oral Diseases
https://www.readbyqxmd.com/read/28761995/intermediate-term-thrombotic-risk-in-contemporary-total-cavo-pulmonary-connection-for-single-ventricle-circulations
#13
Jenna M Faircloth, Olivia Roe, Tarek Alsaied, Joseph S Palumbo, Alexander Vinks, Gruschen R Veldtman
Despite the common occurrence of thrombosis in Fontan circulations, the mid-term thrombotic risk beyond the first two postoperative years is poorly defined especially in total cavo pulmonary Fontan. This study examines the thrombotic incidence and risk beyond the first 2 years after contemporary Fontan surgery. Using a retrospective cohort study design, 89 Fontan patients, 50 male, were included and evaluated with a median of 8.3 years (IQR 6.8-11.4) follow-up. Hospital records were reviewed for known risk factors of thrombosis, thrombotic events, antiplatelet and anticoagulation management, and basic characteristics...
July 31, 2017: Journal of Thrombosis and Thrombolysis
https://www.readbyqxmd.com/read/28761211/holt-oram-syndrome-a-rare-variant
#14
Binoy Shankar, Euden Bhutia, Dinesh Kumar, Sunil Kishore, Shakti Pad Das
Holt-Oram syndrome is an autosomal dominant disorder, characterised by skeletal abnormalities of the upper limb associated with congenital heart defect, mainly atrial and ventricular septal defects. Skeletal defects exclusively affect the upper limbs in the preaxial radial ray distribution and are bilateral and asymmetrical. They range from clinodactyly, absent or digitalised thumb, hypoplastic or absent radii, and first metacarpal to hypoplastic ulna and carpal bone anomalies. Cardiac involvement ranges from asymptomatic conduction disturbances to multiple structural defects...
July 2017: Iranian Journal of Medical Sciences
https://www.readbyqxmd.com/read/28754809/ventricular-function-and-vascular-dimensions-after-norwood-and-hybrid-palliation-of-hypoplastic-left-heart-syndrome
#15
Heiner Latus, Mohamed S Nassar, James Wong, Pauline Hachmann, Hannah Bellsham-Revell, Tarique Hussain, Christian Apitz, Caner Salih, Conal Austin, David Anderson, Can Yerebakan, Hakan Akintuerk, Juergen Bauer, Reza Razavi, Dietmar Schranz, Gerald Greil
OBJECTIVE: Norwood and hybrid procedure are two options available for initial palliation of patients with hypoplastic left heart syndrome (HLHS). Our study aimed to assess potential differences in right ventricular (RV) function and pulmonary artery dimensions using cardiac magnetic resonance (CMR) in survivors with HLHS. METHODS: 42 Norwood (mean age 2.4±0.8) and 44 hybrid (mean age 2.0±1.0 years) patients were evaluated by CMR after stage II palliation prior to planned Fontan completion...
July 28, 2017: Heart: Official Journal of the British Cardiac Society
https://www.readbyqxmd.com/read/28751538/coronary-anatomy-in-children-with-bicuspid-aortic-valves-and-associated-congenital-heart-disease
#16
Wilke M C Koenraadt, Margot M Bartelings, Regina Bökenkamp, Adriana C Gittenberger-de Groot, Marco C DeRuiter, Martin J Schalij, Monique Rm Jongbloed
OBJECTIVE: In patients with bicuspid aortic valve (BAV), coronary anatomy is variable. High take-off coronary arteries have been described, but data are scarce, especially when associated with complex congenital heart disease (CHD). The purpose of this study was to describe coronary patterns in these patients. METHODS: In 84 postmortem heart specimens with BAV and associated CHD, position and height of the coronary ostia were studied and related to BAV morphology...
July 27, 2017: Heart: Official Journal of the British Cardiac Society
https://www.readbyqxmd.com/read/28744764/the-miracle-baby-grows-up-hypoplastic-left-heart-syndrome-in-the-adult
#17
REVIEW
Matthew Lewis, Marlon Rosenbaum
PURPOSE OF REVIEW: Hypoplastic left heart syndrome (HLHS) is characterized by underdevelopment of the mitral valve, left ventricle, and aorta and is ultimately palliated with a single-ventricle repair. Universally fatal in infancy prior to the advent of modern surgical techniques, the majority of HLHS patients will now reach adulthood. However, despite improvements in early survival, the HLHS population continues to face significant morbidity and early mortality. This review delineates common sources of patient morbidity and highlights areas in need of additional research for this growing segment of the adult congenital heart disease population...
August 2017: Current Cardiology Reports
https://www.readbyqxmd.com/read/28737122/preserved-heart-function-after-left-ventricular-pressure-overload-in-adult-mice-subjected-to-neonatal-cardiac-hypoplasia
#18
K Heinecke, A Heuser, F Blaschke, C Jux, L Thierfelder, J-D Drenckhahn
Intrauterine growth restriction in animal models reduces heart size and cardiomyocyte number at birth. Such incomplete cardiomyocyte endowment is believed to increase susceptibility toward cardiovascular disease in adulthood, a phenomenon referred to as developmental programming. We have previously described a mouse model of impaired myocardial development leading to a 25% reduction of cardiomyocyte number in neonates. This study investigated the response of these hypoplastic hearts to pressure overload in adulthood, applied by abdominal aortic constriction (AAC)...
July 24, 2017: Journal of Developmental Origins of Health and Disease
https://www.readbyqxmd.com/read/28736841/outcomes-of-blalock-taussig-shunts-in-current-era-a-single-center-experience
#19
Navaneetha Sasikumar, Antony Hermuzi, Chun-Po Steve Fan, Kyong-Jin Lee, Rajiv Chaturvedi, Edward Hickey, Osami Honjo, Glen S Van Arsdell, Christopher A Caldarone, Arnav Agarwal, Lee Benson
OBJECTIVES: Mortality associated with the modified Blalock-Taussig shunt (MBTS) remains high despite advanced perioperative management. This study was formulated to provide data on (1) current indications, (2) outcomes, and (3) factors affecting mortality and morbidity. DESIGN: A retrospective single center chart review identified 95 children (excluding hypoplastic left heart lesions) requiring a MBTS. Mortality and major morbidity were analyzed using the Kaplan Meier method and risk factor analysis using Cox's proportional hazard regression...
July 24, 2017: Congenital Heart Disease
https://www.readbyqxmd.com/read/28736836/identification-of-adults-with-congenital-heart-disease-of-moderate-or-great-complexity-from-administrative-data
#20
Jill M Steiner, James N Kirkpatrick, Susan R Heckbert, Asma Habib, James Sibley, William Lober, J Randall Curtis
INTRODUCTION: There is relatively sparse literature on the use of administrative datasets for research in patients with adult congenital heart disease (ACHD). The goal of this analysis is to examine the accuracy of administrative data for identifying patients with ACHD who died. METHODS: A list of the International Classification of Diseases codes representing ACHD of moderate- or great-complexity was created. A search for these codes in the electronic health record of adults who received care in 2010-2016 was performed, and used state death records to identify patients who died during this period...
July 24, 2017: Congenital Heart Disease
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