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https://www.readbyqxmd.com/read/28647997/-endovascular-management-and-classification-of-the-dissecting-aneurysms-of-the-vertebral-artery
#1
Y Z Zang, Z G Wang, C W Wang, X Ding, X F Wang, L L Wang
Objective: To summarize the classifications and optimize endovascular treatment of the dissecting aneurysms of the vertebral artery (DAVA). Methods: The clinical information of 39 cases of DAVA treated with endovascular methods in our department between January 2007 and September 2016 were analyzed retrospectively.According to the location of the aneurysm in relation to the posterior inferior cerebellar artery (PICA), the aneurysms were classified into three types: type pre-PICA, located proximally to the PICA; type in-PICA, located at the PICA origin; and type post-PICA located distally to the PICA...
June 20, 2017: Zhonghua Yi Xue za Zhi [Chinese medical journal]
https://www.readbyqxmd.com/read/28643402/clinical-findings-in-right-ventricular-noncompaction-in-hypoplastic-left-heart-syndrome
#2
Monique M Gardner, Meryl S Cohen
BACKGROUND: Noncompaction is a poorly understood form of cardiomyopathy that typically affects the left ventricle and may be associated with congenital heart disease. Right ventricular noncompaction (RVNC) may occur when the left ventricle is affected but is rarely seen in isolation. RVNC may have clinical significance affecting surgical and long-term outcomes. We describe the diagnosis and clinical course in three patients at our institution. METHODS: We performed a retrospective review of patients diagnosed with RVNC over a 12-month period at our institution and reviewed their imaging and clinical course...
June 23, 2017: Congenital Heart Disease
https://www.readbyqxmd.com/read/28641752/congenital-diaphragmatic-hernia-associated-pulmonary-hypertension
#3
Matthew T Harting
Congenital diaphragmatic hernia (CDH) is a complex entity wherein a diaphragmatic defect allows intrathoracic herniation of intra-abdominal contents and both pulmonary parenchymal and vascular development are stifled. Pulmonary pathology and pathophysiology, including pulmonary hypoplasia and pulmonary hypertension, are hallmarks of CDH and are associated with disease severity. Pulmonary hypertension (PH) is sustained, supranormal pulmonary arterial pressure, and among patients with CDH (CDH-PH), is driven by hypoplastic pulmonary vasculature, including alterations at the molecular, cellular, and tissue levels, along with pathophysiologic pulmonary vasoreactivity...
June 2017: Seminars in Pediatric Surgery
https://www.readbyqxmd.com/read/28638413/uterine-cavity-abnormalities-in-patients-with-endometriosis-in-alexandria-a-diagnostic-test-accuracy-study
#4
Eman Aly Abd El Fattah
Endometriosis is strongly associated with infertility. Endometrial polyps are prevalent in infertile women and they have similar pathological characteristics to endometriosis, suggesting a possible association. Uterine malformations as uterine septum and hypoplastic uterus are also linked to endometriosis. Hysterosalpingogram and transvaginal ultrasonography are used to diagnose endometrial lesions. Hysteroscopy can detect small lesions that might be missed. Recently, 4D ultrasonography is being used, but which is superior has not been established yet...
2017: Obstetrics and Gynecology International
https://www.readbyqxmd.com/read/28631156/diagnosis-of-secondary-pulmonary-lymphangiectasia-in-congenital-heart-disease-a-novel-role-for-chest-ultrasound-and-prognostic-implications
#5
Christopher Z Lam, Tanmay Anant Bhamare, Tamadhir Gazzaz, David Manson, Tilman Humpl, Mike Seed
BACKGROUND: Secondary pulmonary lymphangiectasia is a complication of congenital heart disease that results from chronic pulmonary venous obstruction. OBJECTIVES: We aimed to evaluate the performance of chest ultrasound (US) in diagnosing secondary pulmonary lymphangiectasia and to review the clinical course of children with secondary pulmonary lymphangiectasia. MATERIALS AND METHODS: Chest US was performed on 26 children with hypoplastic left heart syndrome, total anomalous pulmonary venous connection or cor triatriatum in a prospective observational study...
June 19, 2017: Pediatric Radiology
https://www.readbyqxmd.com/read/28630664/overlapping-stent-assisted-coil-embolization-for-a-ruptured-intracranial-vertebral-artery-dissection
#6
Katsunori Asai, Hajime Nakamura, Takeo Nishida, Shayne Morris, Takayuki Sakaki
Ruptured intracranial vertebral artery dissection is a cause of non-traumatic subarachnoid hemorrhage. Urgent intervention should be considered to prevent fatal rebleeding. Endovascular parent artery occlusion, which is the initial treatment of choice, is not suitable for patients with a hypoplastic or occlusive contralateral vertebral artery. We report a case of ruptured vertebral artery dissection, which was successfully treated with double overlapping stent-assisted coiling.
June 2017: Journal of Surgical Case Reports
https://www.readbyqxmd.com/read/28627006/parents-perceptions-during-the-transition-to-home-for-their-child-with-a-congenital-heart-defect-how-can-we-support-families-of-children-with-hypoplastic-left-heart-syndrome
#7
Sarita March
PURPOSE: The aim of the study was to explore the literature related to transitions in healthcare between the hospital and home that caregivers experience with a child who has a congenital heart defect (CHD), specifically related to hypoplastic left heart syndrome (HLHS). DESIGN AND METHODS: A systematic literature review was conducted searching OVID Medline, CINAHL, and PubMed to discover the caregivers' perceptions on their transitions between hospital care and home care of their child with a CHD...
June 18, 2017: Journal for Specialists in Pediatric Nursing: JSPN
https://www.readbyqxmd.com/read/28624465/muscle-pathology-in-vici-syndrome-a-case-study-with-a-novel-mutation-in-epg5-and-a-summary-of-the-literature
#8
Carola Hedberg-Oldfors, Niklas Darin, Anders Oldfors
Vici syndrome is a disorder characterized by myopathy, cardiomyopathy, agenesis of the corpus callosum, immunodeficiency, cataracts, hypopigmentation, microcephaly, gross developmental delay and failure to thrive. It is caused by mutations in EPG5, which encodes a protein involved in the autophagy pathway. Although myopathy is part of the syndrome, few publications have described the muscle pathology. We present a detailed morphological analysis in a boy with Vici syndrome due to a novel homozygous one-base deletion in EPG5 (c...
May 8, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28624098/utility-of-neurovascular-imaging-in-acute-neonatal-arterial-ischemic-stroke
#9
Ishita Siddiq, Derek Armstrong, Ann-Marie Surmava, Nomazulu Dlamini, Daune MacGregor, Mahendranath Moharir, Rand Askalan
OBJECTIVE: To evaluate the prevalence of magnetic resonance angiography (MRA) findings and clinically characterize neonates with arterial ischemic stroke (AIS) who have abnormal or variable vasculature. STUDY DESIGN: This was a single-center, retrospective study of patients with neonatal stroke from 1991 to 2012. We reviewed charts and neuroimaging, including MRA, in neonates with AIS. Clinical data of patients with MRA findings were compared with the control group of neonates with AIS and a normal MRA...
June 14, 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/28610439/congenitally-corrected-transposition-complex-anatomic-repair-or-fontan-pathway
#10
Supreet P Marathe, Matthew I Jones, Julian Ayer, Jessica Sun, Yishay Orr, Charlotte Verrall, Ian A Nicholson, Richard B Chard, Gary F Sholler, David S Winlaw
Background Successful anatomic repair of congenitally corrected transposition of the great arteries achieves excellent outcomes. Several centers report excellent long-term survival with the Fontan pathway as well. We have selectively applied both approaches depending on individual patient morphology, with anatomic repair preferred but utilizing the Fontan pathway when high technical complexity or operative risk is anticipated. Methods Hospital records over an 18-year period (1998-2016) were reviewed to identify patients with congenitally corrected transposition of the great arteries who underwent surgical management...
January 1, 2017: Asian Cardiovascular & Thoracic Annals
https://www.readbyqxmd.com/read/28608463/effect-of-etching-on-bonding-of-a-self-etch-adhesive-to-dentine-affected-by-amelogenesis-imperfecta
#11
Don Jeevanie Epasinghe, Cynthia Kar Yung Yiu
AIM: Dentine affected by amelogenesis imperfecta (AI) is histologically altered due to loss of hypoplastic enamel and becomes hypermineralized. In the present study, we examined the effect of additional acid etching on microtensile bond strength of a self-etch adhesive to AI-affected dentine. METHODS: Flat coronal dentine obtained from extracted AI-affected and non-carious permanent molars were allocated to two groups: (a) Clearfil SE Bond (control); and (b) Clearfil SE Bond and additional etching with 34% phosphoric acid for 15 seconds...
June 13, 2017: Journal of Investigative and Clinical Dentistry
https://www.readbyqxmd.com/read/28608148/hypoplastic-left-heart-syndrome-sequencing-reveals-a-novel-notch1-mutation-in-a-family-with-single-ventricle-defects
#12
Matthew D Durbin, Adrian G Cadar, Charles H Williams, Yan Guo, David P Bichell, Yan Ru Su, Charles C Hong
Hypoplastic left heart syndrome (HLHS) has been associated with germline mutations in 12 candidate genes and a recurrent somatic mutation in HAND1 gene. Using targeted and whole exome sequencing (WES) of heart tissue samples from HLHS patients, we sought to estimate the prevalence of somatic and germline mutations associated with HLHS. We performed Sanger sequencing of the HAND1 gene on 14 ventricular (9 LV and 5 RV) samples obtained from HLHS patients, and WES of 4 LV, 2 aortic, and 4 matched PBMC samples, analyzing for sequence discrepancy...
June 12, 2017: Pediatric Cardiology
https://www.readbyqxmd.com/read/28606862/pathogenicity-profile-of-vibrio-parahaemolyticus-in-farmed-pacific-white-shrimp-penaeus-vannamei
#13
R Ananda Raja, R Sridhar, C Balachandran, A Palanisammi, S Ramesh, K Nagarajan
A pathobiological study was conducted using Vibrio parahaemolyticus (VP) strain isolated from vibriosis affected shrimp (Penaeus vannamei) farms in Kancheepuram and Thiruvallur districts of Tamil Nadu during August 2014 to February 2015. The isolate was identified based on the morphological, physiological, biochemical and molecular characters. LD50 value with intramuscular injection was determined as 2.6 × 10(4) cfu/shrimp and sequential pathology was studied giving 6.1 × 10(3) cfu/shrimp (LD25). Total plate count (TPC) and total Vibrio count (TVC) in water, pond sediment, haemolymph, muscle, HP and gut were found significantly (P < 0...
June 9, 2017: Fish & Shellfish Immunology
https://www.readbyqxmd.com/read/28600056/molecular-genetic-characterization-of-a-prenatally-detected-1-484-mb-xq13-3-q21-1-duplication-encompassing-atrx-and-a-literature-review-of-syndromic-intellectual-disability-and-congenital-abnormalities-in-males-with-a-duplication-at-xq13-3-q21-1
#14
Chih-Ping Chen, Hoi-Kin Yip, Liang-Kai Wang, Schu-Rern Chern, Shin-Wen Chen, Shih-Ting Lai, Peih-Shan Wu, Wayseen Wang
OBJECTIVE: We present prenatal diagnosis of dup(X)(q13.3q21.1) in a male fetus and molecular genetic analysis in three generations and a literature review of syndromic intellectual disability and congenital abnormalities in males with a duplication at Xq13.3-q21.1. CASE REPORT: A 35-year-old, primigravid woman underwent amniocentesis at 18 weeks of gestation because of advanced maternal age. The woman and her mother were phenotypically normal, and there was no intellectual disability in the maternal family...
June 2017: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28597840/-how-to-treat-hypoplasia-of-the-lateral-upper-incisors-by-canine-substitution-a-clinical-case
#15
Asmae Benkaddour, Hicham Benyahia, Bouabid El Mohtarim, Fatima Zaoui
INTRODUCTION: Facing a patient with a morphological or numerical disorder of the lateral upper incisors (mainly pegged or missing incisor), the orthodontist has to choose between two treatment options : either spatial planning for a prosthetic restoration, or space closure with substitution of the lateral incisors by canines; the choice depends on the clinical context we are faced with. Each treatment option has its advantages and disadvantages and it is hard to tip the balance in one direction or another...
June 2017: L' Orthodontie Française
https://www.readbyqxmd.com/read/28586151/a-heterozygous-microdeletion-of-20p12-2-3-encompassing-prokr2-and-bmp2-in-a-patient-with-congenital-hypopituitarism-and-growth-hormone-deficiency
#16
Samuel J H Parsons, Neville B Wright, Emma Burkitt-Wright, Mars S Skae, Phillip G Murray
Congenital growth hormone deficiency is a rare disorder with an incidence of approximately 1 in 4,000 live births. Pituitary development is under the control of a multitude of spatiotemporally regulated signaling molecules and transcription factors. Mutations in the genes encoding these molecules can result in hypopituitarism but for the majority of children with congenital hypopituitarism, the aetiology of their disease remains unknown. The proband is a 5-year-old girl who presented with neonatal hypoglycaemia and prolonged jaundice...
June 6, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28586144/co-occurrence-of-jalili-syndrome-and-muscular-overgrowth
#17
Anna Wawrocka, Joanna Walczak-Sztulpa, Magdalena Badura-Stronka, Michal Owecki, Przemysław Kopczynski, Ewa Mrukwa-Kominek, Anna Skorczyk-Werner, Piotr Gasperowicz, Rafal Ploski, Maciej R Krawczynski
Jalili syndrome is a rare disorder inherited in an autosomal recessive pattern manifesting as a combination of cone-rod dystrophy including progressive loss of visual acuity, color blindness, photophobia, and amelogenesis imperfecta with hypoplastic, immature, or hypocalcified dental enamel. It is caused by mutations in CNNM4, which encodes the ancient conserved domain protein 4. Here we report three brothers with Jalili syndrome and muscle overgrowth of the legs. Myopathic changes were found in needle electromyography...
June 6, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28585670/association-of-two-primitive-carotid-basilar-anastomoses-and-cerebrovascular-abnormalities-on-the-brain-base-a-case-report
#18
Milena TRANDAFİLOVİć, Ljiljana VASOVİć, Slobodan VLAJKOVİć, Marija DAKOVİć-BJELAKOVİć
Simultaneous presence of the persistent primitive trigeminal artery and so-called intermediate communicating artery in a 77-years-old cadaver autopsied due to the myocardial infarction was discovered. Many vascular variants and abnormalities such as an aplasia of the right vertebral artery (VA), a presence of two right posterior cerebral arteries (PCAs), partial duplication of the right superior cerebellar artery, hypoplasia of the pre-communicating part (A1) of the right anterior cerebral artery and the right PCA of basilar origin, a special configuration of the anterior communicating artery (ACoA), and a small aneurysm at the right A1-ACoA junction were associated...
April 27, 2017: Turkish Neurosurgery
https://www.readbyqxmd.com/read/28583678/hospital-inpatient-costs-for-single-ventricle-patients-surviving-the-fontan-procedure
#19
Li Huang, Chris Schilling, Kim M Dalziel, Siyu Xie, David S Celermajer, John J McNeil, David Winlaw, Tim S Hornung, Dorothy J Radford, Leeanne E Grigg, Andrew Bullock, Gavin R Wheaton, Robert N Justo, Jayne Blake, Rachel Bishop, Karin Du Plessis, Yves d'Udekem
We estimated the inpatient resource use for a Fontan patient from birth to adulthood and explored factors that might induce cost differences (2014 US dollar). Inpatient costing records from 4 hospitals with greatest numbers of Fontan patients in Australia and New Zealand were linked with the Fontan registry database. Inpatient records between July 1995 and September 2014 for 420 Fontan patients were linked, and the most frequent primary diagnoses were hypoplastic left heart syndrome (20.7%), tricuspid atresia (19...
May 11, 2017: American Journal of Cardiology
https://www.readbyqxmd.com/read/28583211/parenting-a-child-at-home-with-hypoplastic-left-heart-syndrome-experiences-of-commitment-of-stress-and-of-love
#20
Annie M Cantwell-Bartl, James Tibballs
OBJECTIVE: To evaluate the experiences of parenting a child with hypoplastic left heart syndrome after the child has been discharged home from hospital. DESIGN: A study of the parents' experiences using face-to-face interviews and psychometric measures with parents whose child had survived stage surgery. SETTING: Parents were interviewed within the home environment or within the hospital if that was their choice. SUBJECTS: A total of 29 parents (16 mothers and 13 fathers) of surviving children...
June 6, 2017: Cardiology in the Young
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