keyword
MENU ▼
Read by QxMD icon Read
search

Hypoplastic

keyword
https://www.readbyqxmd.com/read/28549654/congenital-heart-defects-and-measures-of-prenatal-brain-growth-a-systematic-review
#1
REVIEW
Thommy Hansen, Tine Brink Henriksen, Cathrine Carlsen Bach, Niels Bjerregård Matthiesen
BACKGROUND: We summarize the evidence for an association between congenital heart defects and prenatal brain growth through a systematic literature review. Congenital heart defects are among the most common malformations, affecting approximately six per 1000 live births. The association between congenital heart defects and long-term neurodevelopmental disorders is well established. Increasing evidence suggests an association between impaired prenatal brain growth and neurodevelopmental disorders in children with congenital heart defects...
April 1, 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28543953/improved-technical-success-postnatal-outcomes-and-refined-predictors-of-outcome-for-fetal-aortic-valvuloplasty
#2
Kevin G Friedman, Lynn A Sleeper, Lindsay R Freud, Audrey C Marshall, Max E Godfrey, Monika Drogosz, Terra Lafranchi, Carol B Benson, Louise E Wilkins-Haug, Wayne Tworetzky
BACKGROUND: Fetal aortic valvuloplasty (FAV) may prevent progression of mid-gestation aortic stenosis (AS) to hypoplastic left heart syndrome (HLHS). METHODS: We evaluate outcomes in 123 fetuses that underwent FAV between 2000 and 2015. We analyze whether technical success and biventricular (Biv) outcome changed from the early era (2000-08) to a more recent era (2009-15) and identify pre-FAV predictors of Biv outcome. We developed CART models to predict the likelihood of Biv outcome...
May 22, 2017: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28543854/endocardial-fibroelastosis-is-secondary-to-hemodynamic-alterations-in-the-chick-embryonic-model-of-hypoplastic-left-heart-syndrome
#3
Zivorad Pesevski, Alena Kvasilova, Tereza Stopkova, Ondrej Nanka, Eliska Drobna Krejci, Christine Buffinton, Radka Kockova, Adam Eckhardt, David Sedmera
BACKGROUND: Endocardial fibroelastosis (EFE) is a diffuse thickening of the ventricular endocardium, causing myocardial dysfunction and presenting as unexplained heart failure in infants and children. One of the postulated causes is persistent and increased wall tension in the ventricles. RESULTS: To examine whether reduced ventricular pressure in a chick model of hypoplastic left heart syndrome induced by left atrial ligation (LAL) at ED4 is associated with EFE at later stages, myocardial fibrosis was evaluated by histology and immunoconfocal microscopy and mass spectrometry (MS) at ED12...
May 20, 2017: Developmental Dynamics: An Official Publication of the American Association of Anatomists
https://www.readbyqxmd.com/read/28538898/do-you-know-this-syndrome-nail-patela-syndrome-a-pathognomonic-dermatologic-finding
#4
Bruna Giusto Bunjes, Marcelle da Costa Frickmann Fernandes
The nail-patella syndrome involves a clinical tetrad of changes in the nails, knees, elbows and the presence of iliac horns. Nail changes are the most constant feature: absent, hypoplastic, or dystrophic. A pathognomonic finding is the presence of the triangular lunula. The diagnosis of nail-patella syndrome is based on clinical findings. In this paper we will discuss a case report of this syndrome and its relation with a dermatological finding.
March 2017: Anais Brasileiros de Dermatologia
https://www.readbyqxmd.com/read/28534240/an-early-glenn-operation-may-be-associated-with-the-later-occurrence-of-protein-losing-enteropathy-in-fontan-patients-association-of-early-glenn-and-failing-fontan
#5
Bettina Unseld, Brigitte Stiller, Thomas Borth-Bruhns, Florian du Bois, Johannes Kroll, Jochen Grohmann, Thilo Fleck
Protein-losing enteropathy (PLE) and plastic bronchitis (PB) are major causes of long-term mortality after Fontan operation. The objective of this study was to determine early clinical risk factors before the onset of PLE and PB. In a cohort study, 106 Fontan patients between 2005 and 2013 were examined. A median of 5.3 (1.5-8.5) years later, follow-up questionnaires were used to group the patients in a PLE or PB group (n = 14) and a non-PLE/PB group (n = 92). Prevalence of PLE was 9.4% (n = 10) and of PB 3...
May 22, 2017: Pediatric Cardiology
https://www.readbyqxmd.com/read/28530678/the-complex-genetics-of-hypoplastic-left-heart-syndrome
#6
Xiaoqin Liu, Hisato Yagi, Shazina Saeed, Abha S Bais, George C Gabriel, Zhaohan Chen, Kevin A Peterson, You Li, Molly C Schwartz, William T Reynolds, Manush Saydmohammed, Brian Gibbs, Yijen Wu, William Devine, Bishwanath Chatterjee, Nikolai T Klena, Dennis Kostka, Karen L de Mesy Bentley, Madhavi K Ganapathiraju, Phillip Dexheimer, Linda Leatherbury, Omar Khalifa, Anchit Bhagat, Maliha Zahid, William Pu, Simon Watkins, Paul Grossfeld, Stephen A Murray, George A Porter, Michael Tsang, Lisa J Martin, D Woodrow Benson, Bruce J Aronow, Cecilia W Lo
Congenital heart disease (CHD) affects up to 1% of live births. Although a genetic etiology is indicated by an increased recurrence risk, sporadic occurrence suggests that CHD genetics is complex. Here, we show that hypoplastic left heart syndrome (HLHS), a severe CHD, is multigenic and genetically heterogeneous. Using mouse forward genetics, we report what is, to our knowledge, the first isolation of HLHS mutant mice and identification of genes causing HLHS. Mutations from seven HLHS mouse lines showed multigenic enrichment in ten human chromosome regions linked to HLHS...
May 22, 2017: Nature Genetics
https://www.readbyqxmd.com/read/28528069/primary-coiling-of-the-left-ventricle-in-hypoplastic-left-heart-with-ventriculo-coronary-connections
#7
Johanna Hummel, Brigitte Stiller, Johannes Kroll, Jochen Grohmann
No abstract text is available yet for this article.
June 2017: Annals of Thoracic Surgery
https://www.readbyqxmd.com/read/28526502/hemodynamic-parameters-predict-adverse-outcomes-following-biventricular-conversion-with-single-ventricle-palliation-takedown
#8
Melissa A Herrin, David Zurakowski, Christopher W Baird, Puja Banka, Jesse J Esch, Pedro J Del Nido, Sitaram M Emani
OBJECTIVE: Patients with a borderline left ventricular hypoplasia in the hypoplastic left heart syndrome variant or an unbalanced atrioventricular canal who undergo initial single-ventricle palliation may be candidates for biventricular (BiV) conversion following left ventricle (LV) recruitment procedures. We investigated associations among preoperative parameters and postoperative outcomes in patients undergoing BiV conversion. METHODS: We performed a retrospective review of patients who underwent BiV conversion to determine variables associated with clinical outcomes...
April 11, 2017: Journal of Thoracic and Cardiovascular Surgery
https://www.readbyqxmd.com/read/28522884/profiles-of-periglomerular-cells-in-the-olfactory-bulb-of-prokineticin-type-2-receptor-deficient-mice
#9
Atsuko Kubo, Mitsugu Sujino, Koh-Hei Masumoto, Atsuko Fujioka, Toshio Terashima, Yasufumi Shigeyoshi, Mamoru Nagano
Both prokineticin receptor 2 (pkr2) and prokineticin 2 (pk2) gene-deficient mice have hypoplasia of the main olfactory bulb (MOB). This hypoplasia has been attributed to disruption of the glomerulus that is caused by loss of afferent projection from olfactory sensory neurons (OSN), and to the impaired migration of granule cells, a type of interneuron. In the present study, we examined whether migration of the second type of interneuron, periglomerular cells (PGC), is dependent on the pkr2 expression by observing the localization of distinct subpopulations of PGC: calretinin (CR)-, calbindin (CB)- and tyrosine hydroxylase (TH)-expressing neurons...
April 27, 2017: Acta Histochemica et Cytochemica
https://www.readbyqxmd.com/read/28522186/molar-incisor-malformation-in-six-cases-description-and-diagnostic-protocol
#10
Ingvild Johnsen Brusevold, Thea Martine Granvoll Bie, Christine Sophie Baumgartner, Runa Das, Ivar Espelid
OBJECTIVE: The term molar-incisor malformation (MIM) has recently been presented in the scientific literature, where it is described as a condition with localized impaired root development. Here we present 6 recently discovered cases referred to our departments. STUDY DESIGN: The patients were enrolled in the study after referral and were examined clinically and radiologically. Two extracted teeth were further examined with micro-computed tomography or microscopy...
April 4, 2017: Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology
https://www.readbyqxmd.com/read/28521042/induced-pluripotent-stem-cell-modelling-of-hlhs-underlines-the-contribution-of-dysfunctional-notch-signalling-to-impaired-cardiogenesis
#11
Chunbo Yang, Yaobo Xu, Min Yu, David Lee, Sameer Alharti, Nicola Hellen, Noor Ahmad Shaik, Babajan Banaganapalli, Hussein Ali Mohamoud Sheikh, Elango Ramu, Stefan Przyborski, Gennadiy Tenin, Simon Williams, John O'Sullivan, Osman O Al-Radi, Jameel Atta, Sian E Harding, Bernard Keavney, Majlinda Lako, Lyle Armstrong
Hypoplastic left heart syndrome (HLHS) is among the most severe forms of congenital heart disease. Although the consensus view is that reduced flow through the left heart during development is a key factor in the development of the condition, the molecular mechanisms leading to hypoplasia of left heart structures are unknown. We have generated induced pluripotent stem cells (iPSC) from five HLHS patients and two unaffected controls, differentiated these to cardiomyocytes and identified reproducible in vitro cellular and functional correlates of the HLHS phenotype...
May 17, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28513613/defects-in-the-acid-phosphatase-acpt-cause-recessive-hypoplastic-amelogenesis-imperfecta
#12
Claire El Smith, Laura LE Whitehouse, James A Poulter, Steven J Brookes, Peter F Day, Francesca Soldani, Jennifer Kirkham, Chris F Inglehearn, Alan J Mighell
We identified two homozygous missense variants (c.428C>T, p.(T143M) and c.746C>T, p.(P249L)) in ACPT, the gene encoding acid phosphatase, testicular, which segregates with hypoplastic amelogenesis imperfecta in two unrelated families. ACPT is reported to play a role in odontoblast differentiation and mineralisation by supplying phosphate during dentine formation. Analysis by computerised tomography and scanning electron microscopy of a primary molar tooth from an individual homozygous for the c.746C>T variant revealed an enamel layer that was hypoplastic, but mineralised with prismatic architecture...
May 17, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28512719/hypoplastic-left-heart-syndrome-with-congenital-complete-heart-block
#13
Maytham Al-Kubaisi, Safwat A Aly, Bassel Mohammad Nijres, Sawsan Awad
Congenital complete atrioventricular block (CCAVB) is a rare condition with an incidence of 1 of 20,000 live births. Hypoplastic left heart syndrome (HLHS) occurs more frequently than CCAVB and occurs in 1 of 5000 live births. HLHS in association with CCAVB is exceedingly rare. In this report, we describe a rare case of HLHS and CCAVB diagnosed in utero. Postnatal diagnosis, management and outcome are presented as well as review of the medical literature.
May 17, 2017: Pediatric Cardiology
https://www.readbyqxmd.com/read/28511170/mosaic-trisomy-9p-in-a-patient-with-mild-dysmorphic-features-and-normal-intelligence
#14
Randeep Brar, Donald G Basel, David P Bick, LuAnn Weik, Peter vanTuinen, Jess F Peterson
To the Editor: Partial and whole duplications of the short arm of chromosome 9 have been commonly reported in the literature with characteristic phenotypic features and intellectual disabilities. The clinical features of 9p duplications are broad and can include growth retardation, developmental delay, intellectual disability, microbrachycephaly, deep set eyes, hypertelorism, downslanting palpebral fissures, prominent nasal root, bulbous nasal tip, low-set ears, short fingers and toes with hypoplastic nails, and delayed bone age (Bonaglia et al...
2017: Journal of the Association of Genetic Technologists
https://www.readbyqxmd.com/read/28511077/clinical-and-laboratory-parameters-predicting-a-requirement-for-the-reevaluation-of-growth-hormone-status-during-growth-hormone-treatment-retesting-early-in-the-course-of-gh-treatment
#15
Dogus Vuralli, E Nazli Gonc, Z Alev Ozon, Ayfer Alikasifoglu, Nurgun Kandemir
OBJECTIVE: We aimed to define the predictive criteria, in the form of specific clinical, hormonal and radiological parameters, for children with growth hormone deficiency (GHD) who may benefit from the reevaluation of GH status early in the course of growth hormone (GH) treatment. DESIGN AND METHODS: Two hundred sixty-five children with growth hormone deficiency were retested by GH stimulation at the end of the first year of GH treatment. The initial clinical and laboratory characteristics of those with a normal (GH≥10ng/ml) response and those with a subnormal (GH<10ng/ml) response were compared to predict a normal GH status during reassessment...
May 10, 2017: Growth Hormone & IGF Research
https://www.readbyqxmd.com/read/28509696/on-top-index-pollicization-after-a-partial-amputation-of-a-syndactylized-hypoplastic-thumb-in-a-patient-with-townes-brocks-syndrome
#16
Mia Lorencin, Kresimir Bulic
Townes-Brocks syndrome is a rare autosomal dominant syndrome characterized by multiple malformations, including thumb anomalies. Thumb hypoplasia poses a specific problem, where a deficient thumb creates a significant handicap in hand function. The treatment goal is enabling pinch and grip activity, and the preferred procedure for a severely hypoplastic thumb is index finger pollicization. We present a case of on-top index pollicization in a 10-year-old, after a partial amputation of a previously syndactylized hypoplastic thumb, with a well-formed first carpometacarpal joint...
May 15, 2017: Annals of Plastic Surgery
https://www.readbyqxmd.com/read/28508919/cognitive-development-of-school-age-hypoplastic-left-heart-syndrome-survivors-a-single-center-study
#17
REVIEW
Raphael D Oberhuber, Sonja Huemer, Rudolf Mair, Eva Sames-Dolzer, Michaela Kreuzer, Gerald Tulzer
Neurological and radiologic research results show an abnormal cerebral microstructure as well as abnormal neurodevelopment in patients treated for hypoplastic left heart syndrome. The aim of this study was to assess the varying cognitive performance these children have developed in dependence upon prenatal diagnosis, surgical techniques, surgical learning effects, anatomy, perfusion techniques, gender, pedagogic, and sociodemographic parameters in comparison to age-adjusted normative values. School-age children (6...
May 16, 2017: Pediatric Cardiology
https://www.readbyqxmd.com/read/28504507/-mosaic-trisomy-18-series-of-cases
#18
Francisco Cammarata-Scalisi, María A Lacruz-Rengel, Dianora Araque, Gloria Da Silva, Andrea Avendaño, Michele Callea, Frances Stock, Yudith Guerrero, Eliomar Aguilar, María J Lacruz, Jesús Sulbaran
Trisomy 18 syndrome (T18) is a clinical and genetic disorder, which has a full extra chromosome 18 in each cell, variant that is called free trisomy. In addition, it can occur in partial and mosaic form. It is characterized by intrauterine growth restriction, psychomotor and mental retardation, characteristic craniofacial findings, congenital heart disease, hypoplastic pelvis, clenched hand and rocker-bottom foot, among others. The mosaic T18 occurs when cells with T18 and normal cell lines exist in the same individual and correspond to 5% of cases...
June 1, 2017: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/28498910/extra-anatomical-bypass-in-complex-and-recurrent-aortic-coarctation-and-hypoplastic-arch%C3%A2
#19
Eva Maria Delmo Walter, Mariano Francisco Del Maria Javier, Roland Hetzer
OBJECTIVES: Our goal was to report the selection schemes, technical variations and long-term outcome of extra-anatomical bypass to correct complex, recurrent aortic coarctation and hypoplastic aortic arch. METHODS: Between 1989 and 2012, 53 patients (mean age 13.2 ± 4.3, median 11.6, range 9-23 years) with complex aortic coarctation ( n  = 33; long-segment hypoplastic aortic arch in 15), recurrent coarctation ( n  = 20; anastomosic pseudoaneurysm in 10), underwent correction using extra-anatomical bypass, either with ( n  = 18: femoral bypass = 13, left heart bypass = 5) or without ( n  = 35) extracorporeal circulation via a left lateral thoracotomy ( n = 48) and combined median sternotomy and median laparotomy ( n  = 5)...
May 11, 2017: Interactive Cardiovascular and Thoracic Surgery
https://www.readbyqxmd.com/read/28491863/reproducing-patient-specific-hemodynamics-in-the-blalock-taussig-circulation-using-a-flexible-multi-domain-simulation-framework-applications-for-optimal-shunt-design
#20
Christopher J Arthurs, Pradyumn Agarwal, Anna V John, Adam L Dorfman, Ronald G Grifka, C Alberto Figueroa
For babies born with hypoplastic left heart syndrome, several open-heart surgeries are required. During Stage I, a Norwood procedure is performed to construct an appropriate circulation to both the systemic and the pulmonary arteries. The pulmonary arteries receive flow from the systemic circulation, often using a Blalock-Taussig (BT) shunt between the innominate artery and the right pulmonary artery. This procedure causes significantly disturbed flow in the pulmonary arteries. In this study, we use computational hemodynamic simulations to demonstrate its capacity for examining the properties of the flow through and near the BT shunt...
2017: Frontiers in Pediatrics
keyword
keyword
29717
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"