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https://www.readbyqxmd.com/read/30538114/gata2-deficiency-and-human-hematopoietic-development-modeled-using-induced-pluripotent-stem-cells
#1
Moonjung Jung, Stefan Cordes, Jizhong Zou, Shiqin J Yu, Xavi Guitart, So Gun Hong, Vinh Dang, Elaine Kang, Flavia S Donaires, Sergio A Hassan, Maher Albitar, Amy P Hsu, Steven M Holland, Dennis D Hickstein, Danielle Townsley, Cynthia E Dunbar, Thomas Winkler
GATA2 deficiency is an inherited or sporadic genetic disorder characterized by distinct cellular deficiency, bone marrow failure, various infections, lymphedema, pulmonary alveolar proteinosis, and predisposition to myeloid malignancies resulting from heterozygous loss-of-function mutations in the GATA2 gene. How heterozygous GATA2 mutations affect human hematopoietic development or cause characteristic cellular deficiency and eventual hypoplastic myelodysplastic syndrome or leukemia is not fully understood...
December 11, 2018: Blood Advances
https://www.readbyqxmd.com/read/30525909/pathophysiology-adaptation-and-imaging-of-the-right-ventricle-in-fontan-circulation
#2
Matthew D Files, Bhawna Arya
The Fontan procedure, which creates a total cavopulmonary anastomosis and represents the final stage of palliation for hypoplastic left heart syndrome, generates a unique circulation relying on a functionally single right ventricle (RV). The RV pumps blood in series around the systemic and pulmonary circulation, which requires adaptations to the abnormal volume and pressure loads. Here, we provide a complete review of RV adaptations as the RV assumes the role of the systemic ventricle, the progression of RV dysfunction to a distinct pattern of heart failure unique to this disease process, and the assessment and management strategies used to protect and rehabilitate the failing RV of Fontan circulation...
December 1, 2018: American Journal of Physiology. Heart and Circulatory Physiology
https://www.readbyqxmd.com/read/30521508/risk-factors-for-recoarctation-of-aorta-after-norwood-procedure-in-patients-with-hypoplastic-left-heart-syndrome
#3
Alexandre Szypulski, Vivek Rai, Julita Sacharczuk, Marcin Gładki, Aleksandra Mokra, Rafał Żurek, Janusz H Skalski, Tomasz Mroczek
BACKGROUND: Recoarctation (reCoA) of the aorta is a common complication afer the Norwood procedure. Untreated, it can lead to failure of the systemic ventricle and death. The main goal of the study is to define risk factors of reCoA after the Norwood procedure in hypoplastic left heart syndrome (HLHS). METHODS: We retrospectively analyzed the pre-, intra- and postoperative data of 96 successive patients who underwent the Norwood procedure between 2007 and 2011. In case of reCoA balloon angioplasty was performed...
2018: Folia Medica Cracoviensia
https://www.readbyqxmd.com/read/30517264/lobectomy-with-ecmo-support-in-an-infant-who-developed-pulmonary-interstitial-emphysema-following-repair-of-hypoplastic-aortic-arch
#4
Michael Magarakis, Dao M Nguyen, Alejandro E Macias, Eliot R Rosenkranz
Pulmonary interstitial emphysema (PIE) is a common problem in premature neonates with respiratory distress syndrome. This condition is often related to barotrauma caused by mechanical ventilation or continuous positive airway pressure applied to low birth weight neonates. The clinical diagnosis can be challenging. However, after proper diagnosis, several interventions are available for successful management. We describe an infant who developed severe PIE with recurrent pneumothoraces and development of a persistent bronchopleural fistula shortly after repair of a hypoplastic aortic arch and description of successful lobectomy with the assistance of extracorporeal support (ECMO)...
September 2018: Brazilian Journal of Cardiovascular Surgery
https://www.readbyqxmd.com/read/30515771/how-i-manage-children-with-diamond-blackfan-anaemia
#5
REVIEW
Marije Bartels, Marc Bierings
Diamond-Blackfan anaemia (DBA) is a rare inherited marrow failure disorder, characterized by hypoplastic anaemia, congenital anomalies and a predisposition to cancer as a result of ribosomal dysfunction. Historically, treatment is based on glucocorticoids and/or blood transfusions, which is accompanied by significant toxicity and long-term sequelae. Currently, stem cell transplantation is the only curative option for the haematological DBA phenotype. Whereas this procedure has been quite successful in the last decade in selected patients, novel therapies and biological insights are still warranted to improve clinical care for all DBA patients...
December 4, 2018: British Journal of Haematology
https://www.readbyqxmd.com/read/30515683/patient-specific-multi-scale-model-analysis-of-hemodynamics-following-the-hybrid-norwood-procedure-for-hypoplastic-left-heart-syndrome-effects-of-reverse-blalock-taussig-shunt-diameter
#6
Andres Ceballos, Ray Prather, Eduardo Divo, Alain J Kassab, William M DeCampli
INTRODUCTION: The hybrid Norwood (HN) is a relatively new first stage palliative procedure for neonates with hypoplastic left heart syndrome, in which a sustainable uni-ventricular circulation is established in a less invasive manner than with the standard Norwood procedure. A computational multiscale model of the circulation following the HN procedure was used to obtain detailed hemodynamics. Implementation of a reverse-BT shunt (RBTS), a synthetic bypass from the main pulmonary to the innominate artery placed to counteract aortic arch stenosis, and its effects on local and global hemodynamics were studied...
December 4, 2018: Cardiovascular Engineering and Technology
https://www.readbyqxmd.com/read/30511478/loss-of-function-missense-and-intronic-variants-in-notch1-confer-different-risks-for-left-ventricular-outflow-tract-obstructive-heart-defects-in-two-european-cohorts
#7
Emmi Helle, Aldo Córdova-Palomera, Tiina Ojala, Priyanka Saha, Praneetha Potiny, Stefan Gustafsson, Erik Ingelsson, Michael Bamshad, Deborah Nickerson, Jessica X Chong, Euan Ashley, James R Priest
Loss of function variants in NOTCH1 cause left ventricular outflow tract obstructive defects (LVOTO). However, the risk conferred by rare and noncoding variants in NOTCH1 for LVOTO remains largely uncharacterized. In a cohort of 49 families affected by hypoplastic left heart syndrome, a severe form of LVOTO, we discovered predicted loss of function NOTCH1 variants in 6% of individuals. Rare or low-frequency missense variants were found in 16% of families. To make a quantitative estimate of the genetic risk posed by variants in NOTCH1 for LVOTO, we studied associations of 400 coding and noncoding variants in NOTCH1 in 1,085 cases and 332,788 controls from the UK Biobank...
December 4, 2018: Genetic Epidemiology
https://www.readbyqxmd.com/read/30506946/mutations-in-relt-cause-autosomal-recessive-amelogenesis-imperfecta
#8
Jung-Wook Kim, Hong Zhang, Figen Seymen, Mine Koruyucu, Yuanyuan Hu, Jenny Kang, Youn Jung Kim, Atsushi Ikeda, Yelda Kasimoglu, Merve Bayram, Chuhua Zhang, Kazuhiko Kawasaki, John D Bartlett, Thomas L Saunders, James P Simmer, Jan C-C Hu
Amelogenesis imperfecta (AI) is a collection of isolated (non-syndromic) inherited diseases affecting dental enamel formation or a clinical phenotype in syndromic conditions. We characterized three consanguineous AI families with generalized irregular hypoplastic enamel with rapid attrition that perfectly segregated with homozygous defects in a novel gene: RELT that is a member of the tumor necrosis factor receptor superfamily (TNFRSF). RNAscope in situ hybridization of wild-type mouse molars and incisors demonstrated specific Relt mRNA expression by secretory stage ameloblasts and by odontoblasts...
December 3, 2018: Clinical Genetics
https://www.readbyqxmd.com/read/30506893/the-effect-of-right-ventricular-function-on-survival-and-morbidity-following-stage-2-palliation-an-analysis-of-the-single-ventricle-reconstruction-trial-public-data-set
#9
Vanessa Marie Hormaza, Mark Conaway, Daniel Scott Schneider, Jeffrey Eric Vergales
OBJECTIVE: Limited information is known on how right ventricular function affects outcomes after stage 2 palliation. We evaluated the impact of different right ventricular indices prior to stage 2 palliation on morbidity and mortality. DESIGN: Retrospective study design. SETTING: Pediatric Heart Network Single Ventricle Reconstruction Trial Public Data Set. PATIENT: Any variant of stage 1 palliation and all anatomic hypoplastic left heart syndrome variants in the trial were evaluated...
December 2, 2018: Congenital Heart Disease
https://www.readbyqxmd.com/read/30504252/aplastic-and-hypoplastic-anemias
#10
Suzie A Noronha
No abstract text is available yet for this article.
December 2018: Pediatrics in Review
https://www.readbyqxmd.com/read/30503248/is-excision-of-testicular-nubbin-necessary-in-vanishing-testis-syndrome
#11
Evangeline Woodford, Dilharan Eliezer, Aniruddh Deshpande, Rajendra Kumar
BACKGROUND/PURPOSE: Vanishing Testes Syndrome1 (VTS) is one of the most common causes of impalpable testes in children. The role of removal of testicular nubbins owing to malignant potential in VTS is unclear. We sought to evaluate whether testicular nubbins need to be excised owing to this potential. METHODS: We conducted a retrospective review of children with a clinical diagnosis of impalpable testes aged 0-18 who presented to our tertiary hospital between 2007 and 2017...
December 2018: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/30488292/histological-validation-of-the-automated-caries-detection-system-acds-in-classifying-occlusal-caries-with-the-icdas-ii-system-in-vitro
#12
E D Berdouses, C J Oulis, M Michalaki, E E Tripoliti, D I Fotiadis
AIM: To compare the diagnostic performance of the automated caries detection system (ACDS) for the detection and diagnosis of occlusal caries with the histological appearance of the lesions. METHODS: Eighteen posterior permanent teeth were used, out of which 40 sections were made and 53 areas were evaluated. Teeth with hypoplastic and/or hypomineralised areas or sealants on the occlusal surfaces were excluded from the study. The teeth that were used for this study were a subgroup of the teeth used in the study that introduced ACDS system...
November 28, 2018: European Archives of Paediatric Dentistry: Official Journal of the European Academy of Paediatric Dentistry
https://www.readbyqxmd.com/read/30481309/outcomes-of-different-rehabilitative-procedures-in-patients-with-pulmonary-atresia-ventricular-septal-defect-and-major-aortopulmonary-collateral-arteries
#13
Dong Zhao, Keming Yang, Shoujun Li, Jun Yan, Zhongdong Hua, Nengxin Fang, Wenjun Su, Xiaodong Lv, Bing Yu
OBJECTIVES: The objective of this study was to compare our clinical outcomes of the central shunt and the right ventricle-pulmonary artery (RV-PA) connection in patients with pulmonary atresia, ventricular septal defect and the major aortopulmonary collateral arteries. METHODS: From November 2009 to October 2017, a total of 157 consecutive patients with pulmonary atresia, ventricular septal defect, the major aortopulmonary collateral arteries and the hypoplastic PAs who underwent palliative surgery were included...
November 26, 2018: European Journal of Cardio-thoracic Surgery
https://www.readbyqxmd.com/read/30478859/missing-canines-a-novel-aetiology
#14
Sophie May Roberts, Scott Derek Currell, Yousef Abdalla
Infant oral mutilation is the practice of removing developing tooth germs, commonly the mandibular canine, in infants up to the age of one year. Subsequent complications include missing, impacted or hypoplastic permanent anterior and canine teeth. We report on a case of bilaterally missing lower canines thought to be due to infant oral mutilation. It is important that general dental practitioners are aware of this practice and resulting complications when treating families from sub-Saharan East Africa. This article is protected by copyright...
November 27, 2018: Australian Dental Journal
https://www.readbyqxmd.com/read/30478832/downregulation-of-microrna-592-protects-mice-from-hypoplastic-heart-and-congenital-heart-disease-by-inhibition-of-the-notch-signaling-pathway-through-upregulating-kctd10
#15
Xue-Feng Pang, Xue Lin, Jian-Jun Du, Ding-Yin Zeng
Evidence has demonstrated that the microRNA (miR) may play a significant role in the development of congenital heart disease (CHD). Here, we explore the mechanism of microRNA-592 (miR-592) in heart development and CHD with the involvement of KCTD10 and Notch signaling pathway in a CHD mouse model. Cardiac tissues were extracted from CHD and normal mice. Immunohistochemistry staining was performed to detect positive expression rate of KCTD10. A series of inhibitor, activators, and siRNAs was introduced to verified regulatory functions for miR-592 governing KCTD10 in CHD...
November 27, 2018: Journal of Cellular Physiology
https://www.readbyqxmd.com/read/30475155/spine-duplication-or-split-notochord-syndrome-case-report-and-literature-review
#16
Barbara Jasiewicz, Magdalena Stachura, Tomasz Potaczek, Slawomir Duda, Piotr Michno, Stanislaw Kwiatkowski
CONTEXT: Spine duplication is a rare condition, with various extents and severe additional anomalies. The goal of this study was to describe a unique case of a boy with split notochord syndrome who was followed up from birth until maturity. FINDINGS: Physical examination at birth showed defects of the abdominal wall and cloacal exstrophy with visible urether outlets. A transposed anus was present in the perineal region. Split bony elements of the spine with nonpalpable sacral bone were noted...
November 26, 2018: Journal of Spinal Cord Medicine
https://www.readbyqxmd.com/read/30468148/a-cleidocranial-dysplasia-case-with-a-novel-mutation-and-growth-velocity-gain-with-growth-hormone-treatment
#17
Emine Çamtosun, Ayşehan Akıncı, Emine Demiral, İbrahim Tekedereli, Ahmet Sığırcı
Cleidocranial dysplasia (CCD) is a rare congenital autosomal dominant skeletal disorder that is characterized by hypoplasia or aplasia of clavicles, failure of cranial suture closure, dental anomalies, short stature and other changes in skeletal patterning and growth. The gene responsible for pathogenesis has been mapped on the short arm of chromosome 6p21, Core Binding Factor Alpha-1 ( CBFA1 ) or Runt Related Transcription Factor 2 ( RUNX2 ). Here we describe a CCD patient with a novel mutation in the RUNX2 gene...
November 23, 2018: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/30464689/paroxysmal-nocturnal-hemoglobinuria-testing-in-patients-with-myelodysplastic-syndrome-in-clinical-practice-frequency-and-indications
#18
S A Wong, B I Dalal, H A Leitch
Background: Myelodysplastic syndrome (mds) is characterized by peripheral blood cytopenias, with most patients developing significant anemia and dependence on red blood cell (rbc) transfusion. In paroxysmal nocturnal hemoglobinuria (pnh), mutations in the PIGA gene lead to lack of cell-surface glycosylphosphatidylinositol, allowing complement-mediated lysis to occur. Paroxysmal nocturnal hemoglobinuria results in direct antiglobulin test-negative hemolysis and cytopenias, and up to 50% of patients with mds test positive for pnh cells...
October 2018: Current Oncology
https://www.readbyqxmd.com/read/30459703/cerebral-venous-drainage-in-patients-with-space-occupying-middle-cerebral-artery-infarction-effects-on-functional-outcome-after-hemicraniectomy
#19
Volker Puetz, Johannes C Gerber, Philipp Krüger, Matthias Kuhn, Heinz Reichmann, Hauke Schneider
Background: Cerebral venous drainage might influence brain edema characteristics and functional outcome of patients with severe ischemic stroke. The purpose of the study was to evaluate whether hypoplasia of transverse sinuses or the internal jugular veins is associated with poor functional outcome in patients with space-occupying middle cerebral artery (MCA) infarction who underwent decompressive surgery. Methods: We performed a retrospective analysis of patients with space-occupying MCA infarction treated with decompressive surgery at our university hospital...
2018: Frontiers in Neurology
https://www.readbyqxmd.com/read/30449224/new-mutation-causing-androgen-insensitivity-syndrome-a-case-report-and-review-of-literature
#20
Marzena Maciejewska-Jeske, Patrycja Rojewska-Madziala, Karolina Broda, Karolina Drabek, Anna Szeliga, Adam Czyzyk, Stanislaw Malinger, Anna Kostrzak, Agnieszka Podfigurna, Gregory Bala, Blazej Meczekalski, Agnieszka Malcher, Maciej Kurpisz
Androgen insensitivity syndrome (AIS) is a congenital disorder in which a defect in the androgen receptor (AR) gene leads to cellular resistance to androgens. Defects in the AR gene, located on the X chromosome, result in the development of a feminine phenotype in chromosomally male (46, XY) individuals. In this case report, we present a 44 years old patient with complete androgen insensitivity syndrome (CAIS) initially presenting with primary amenorrhea. The patient underwent a full clinical evaluation, revealing hypoplastic vagina and a lack of uterus and ovaries...
November 19, 2018: Gynecological Endocrinology
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