keyword
https://read.qxmd.com/read/38489836/configuration-of-the-neo-aortic-root-after-chimney-reconstruction-in-the-norwood-procedure
#1
JOURNAL ARTICLE
Satoshi Asada, Shinichiro Oda, Yoshinobu Maeda, Shuhei Fujita, Hisayuki Hongu, Eijiro Yamashita, Hiroki Nakatsuji, Takashi Nagase, Rie Nakai, Takaaki Hayashi, Jin Ikarashi, Yasutaka Goto, Masaaki Yamagishi
OBJECTIVES: After staged reconstruction for hypoplastic left heart syndrome (HLHS), the neoaortic root tends to dilate, and the incidence of significant neoaortic valve insufficiency increases with time. This study aimed to evaluate the mid-term outcomes of the neoaortic root geometries and valve function after chimney reconstruction in the Norwood procedure. METHODS: Between 2013 and 2021, 20 consecutive patients who underwent chimney reconstruction during the Norwood procedure for HLHS and its variants in our institution were enrolled...
March 15, 2024: European Journal of Cardio-thoracic Surgery
https://read.qxmd.com/read/38485153/understanding-complex-disease-related-mechanisms-rational-therapies-for-diamond-blackfan-anaemia
#2
JOURNAL ARTICLE
Jeffrey M Lipton
The rich history surrounding Diamond-Blackfan anaemia (DBA), originally described in 1938 as congenital hypoplastic anaemia2 reflects the evolution of paediatric haematology. In their paper, the authors1 present the results of a clinical trial using the thrombopoietin-mimetic agent eltrombopag to treat red cell failure in DBA. A low response rate belies the importance of this work. Commentary on: Duncan et al. Treatment of refractory/relapsed Diamond-Blackfan anaemia with eltrombopag. Br J Haematol 2024 (Online ahead of print)...
March 14, 2024: British Journal of Haematology
https://read.qxmd.com/read/38485103/sudden-unexpected-intrapartum-death-and-left-ventricular-noncompaction-involving-the-right-ventricle
#3
Giulia Ottaviani, Tobia Tomasello, Francesca Boggio, Letterio Runza, Alessandro Del Gobbo, L Maximilian Buja
Left ventricular noncompaction (LVNC), involving mainly the right ventricle, is a rare form of congenital heart disorder characterized by a developmental arrest in myocardial compaction, resulting in a spongy appearance of the myocardium, mainly of the right ventricle, rarely detected in fetuses. We report the case of a female fetus with a gestational age of 41+4 weeks who came to our attention for intrapartum sudden unexpected death, resulting in stillbirth. The ventricular walls, particularly the right ventricular wall, appeared thick, hypertrabeculated and spongy, leading to the diagnosis of LVNC involving mainly the right ventricle...
March 12, 2024: Cardiovascular Pathology: the Official Journal of the Society for Cardiovascular Pathology
https://read.qxmd.com/read/38480803/exploring-the-anatomical-configurations-of-the-cerebral-arteries-in-a-cohort-of-south-african-patients
#4
JOURNAL ARTICLE
Gugulethu Sibiya, Bukola R Omotoso, Rohen Harrichandparsad, Lelika Lazarus
The cerebral arteries, specifically the anterior cerebral artery (ACA) and posterior cerebral artery (PCA), work together with the smaller calibre arteries to provide effective communication between the anterior and posterior circuits of the brain via the circle of Willis (CoW). Morphologic variations of the cerebral arteries and the CoW may alter blood flow to the brain, resulting in intracranial vascular disorders associated with stroke, and aneurysms. This study aimed to document the morphology of the cerebral arteries and the CoW in the South African population...
March 13, 2024: Scientific Reports
https://read.qxmd.com/read/38480572/differential-regulation-of-immune-related-genes-in-the-developing-heart
#5
JOURNAL ARTICLE
Mathieu Garand, Susie S Y Huang, Brian Dineen, Ian A Glass, Pirooz Eghtesady
In many congenital heart defects, it can be difficult to ascertain primary pathology from secondary consequences from altered flow through the developing heart. The molecular differences between the growing right and left ventricles (RV and LV, respectively) following the completion of septation and the impact of sex on these mechanisms have not been investigated. We analyzed RNA-seq data derived from twelve RV and LVs, one with Hypoplastic Left Heart Syndrome (HLHS), to compare the transcriptomic landscape between the ventricles during development...
March 13, 2024: Pediatric Cardiology
https://read.qxmd.com/read/38478172/nail-patella-syndrome-with-nephropathy-in-a-de-novo-lmx1b-mutation-triangular-lunula-of-the-thumb-and-lack-of-finger-creases-as-clues
#6
JOURNAL ARTICLE
Yoshinori Banno, Masako Ikemiyagi, Riku Hamada, Kandai Nozu, Kentaro Matsuoka, Isamu Kamimaki
Nail-patella syndrome (NPS) is an autosomal dominant disease caused mostly by mutations in the LMX1B gene and is characterized by hypoplastic nails, hypoplastic patella, elbow deformities, glaucoma, and nephropathy, sometimes leading to kidney failure. The combination and the severity of symptoms vary greatly from patient to patient. Because a kidney biopsy may show nonspecific findings, patients with nephropathy alone may not be diagnosed without undergoing genetic testing. We examined the case of a 6-year-old girl with persistent high proteinuria who was not diagnosed by kidney biopsy but had a diagnosis of a de novo mutation in the LMX1B gene following genetic testing...
March 13, 2024: Pediatric Nephrology
https://read.qxmd.com/read/38477687/what-is-the-hypoplastic-left-heart-syndrome
#7
JOURNAL ARTICLE
Robert H Anderson, Diane E Spicer, Adrian Crucean
No abstract text is available yet for this article.
March 13, 2024: World Journal for Pediatric & Congenital Heart Surgery
https://read.qxmd.com/read/38477421/in-depth-investigation-of-fam20a-insufficiency-effects-on-deciduous-dental-pulp-cells-altered-behaviours-osteogenic-differentiation-and-inflammatory-gene-expression
#8
JOURNAL ARTICLE
Kanokwan Sriwattanapong, Thanakorn Theerapanon, Chompak Khamwachirapitak, Pannagorn Sae-Ear, Noppadol Sa-Ard-Iam, Vorasuk Shotelersuk, Thantrira Porntaveetus
AIM: Loss-of-function mutations in FAM20A result in amelogenesis imperfecta IG (AI1G) or enamel-renal syndrome, characterized by hypoplastic enamel, ectopic calcification, and gingival hyperplasia, with some cases reporting spontaneous tooth infection. Despite previous reports on the consequence of FAM20A reduction in gingival fibroblasts and transcriptome analyses of AI1G pulp tissues, suggesting its involvement in mineralization and infection, its role in deciduous dental pulp cells (DDP) remains unreported...
March 13, 2024: International Endodontic Journal
https://read.qxmd.com/read/38475705/innovative-cardiovascular-casting-technique-features-the-complex-malformation-of-berry-syndrome
#9
JOURNAL ARTICLE
Wei Li, Wei Feng, Caihong Chang, Ya Liu, Xue Li, Mofeng Wang, Ling Gan, Jiaqi Zhang
BACKGROUND: Prenatal diagnosis of Berry syndrome, a rare combination of cardiac anomalies including aortopulmonary window (APW), aortic origin of the right pulmonary artery (RPA), interrupted aortic arch (IAA), hypoplastic aortic arch, or coarctation of the aorta (COA), poses a significant challenge. Due to the rarity of the disease, and the limited case reports available to features the complex malformation of Berry syndrome postpartum, this article introduces an innovative approach to visually showcase this unusual disease...
March 12, 2024: BMC Pregnancy and Childbirth
https://read.qxmd.com/read/38471700/loeys-dietz-syndrome-and-goldenhar-syndrome-unveiled-together
#10
JOURNAL ARTICLE
Henuka Verma, Prashant Kumar Verma, Nikhil Rajvanshi, Nowneet Kumar Bhat
Haemifacial microsomia is an asymmetrical congenital tissue malformation developed from the first and second branchial arches with or without multi-system involvement. Alternatively recognised as Goldenhar syndrome or oculoauriculovertebral spectrum (OAVS), it is an aetiologically heterogeneous group of disorders showing dominant trends in inheritable form.We present a case of a boy in early childhood with concomitant craniofacial features of craniofacial microsomia with Loeys-Dietz syndrome. He had a unilateral hypoplastic face, asymmetrical ear malformations and multiple preauricular tags with epibulbar dermoid (features suggestive of Goldenhar syndrome)...
March 12, 2024: BMJ Case Reports
https://read.qxmd.com/read/38467926/renal-coloboma-syndrome-dominant-optic-atrophy-with-severe-retinal-atrophy-and-de-novo-digenic-mutations-in-pax2-and-opa1
#11
JOURNAL ARTICLE
Wataru Shimabukuro, Yasutsugu Chinen, Naoya Imanaga, Kumiko Yanagi, Tadashi Kaname, Koichi Nakanishi
Renal coloboma syndrome (RCS) and dominant optic atrophy are mainly caused by heterozygous mutations in PAX2 and OPA1, respectively. We describe a patient with digenic mutations in PAX2 and OPA1. A female infant was born without perinatal abnormalities. Magnetic resonance imaging at 4 months of age showed bilateral microphthalmia and optic nerve hypoplasia. Appropriate body size was present at 2 years of age, and mental development was favorable. Color fundus photography revealed severe retinal atrophy in both eyes...
March 11, 2024: Pediatric Nephrology
https://read.qxmd.com/read/38467731/a-second-hotspot-for-pathogenic-exon-skipping-variants-in-cdc45
#12
JOURNAL ARTICLE
Kelly Schoch, Mischa S G Ruegg, Bridget J Fellows, Joseph Cao, Sabine Uhrig, Stephanie Einsele-Scholz, Saskia Biskup, Samuel R A Hawarden, Vincenzo Salpietro, Valeria Capra, Chris M Brown, Andrea Accogli, Vandana Shashi, Louise S Bicknell
Biallelic pathogenic variants in CDC45 are associated with Meier-Gorlin syndrome with craniosynostosis (MGORS type 7), which also includes short stature and absent/hypoplastic patellae. Identified variants act through a hypomorphic loss of function mechanism, to reduce CDC45 activity and impact DNA replication initiation. In addition to missense and premature termination variants, several pathogenic synonymous variants have been identified, most of which cause increased exon skipping of exon 4, which encodes an essential part of the RecJ-orthologue's DHH domain...
March 11, 2024: European Journal of Human Genetics: EJHG
https://read.qxmd.com/read/38466780/abnormal-progenitor-cell-differentiation-and-cardiomyocyte-proliferation-in-hypoplastic-right-heart-syndrome
#13
JOURNAL ARTICLE
Yang Yu, Cankun Wang, Shiqiao Ye, Zhaohui Xu, Hui Lin, Karen Texter, Vasudha Shukla, Samir Ghadiali, Qin Ma, Vidu Garg, Ming-Tao Zhao
No abstract text is available yet for this article.
March 12, 2024: Circulation
https://read.qxmd.com/read/38465590/total-aortic-arch-and-neoaortic-root-replacement-following-stage-iii-palliation-for-hypoplastic-left-heart-syndrome
#14
JOURNAL ARTICLE
Sayar Kumar Munshi, Tommaso Generali, Arul Narayanan, Raul Jose Correia, Ramesh Kutty, Ram Dhannapuneni
Progressive dilatation of the neoaortic root and reconstructed aortic arch is a serious complication after the Norwood procedure. There are no clear guidelines on the management of this complex anatomy in the setting of single ventricle physiology, and the surgical treatment of such an entity remains anecdotal. We describe a successful surgical repair in a 15-year-old girl presenting with a severely dilated neoaortic root and aortic arch causing compression and narrowing of the left pulmonary artery after successful three-stage palliation for hypoplastic left heart syndrome...
March 11, 2024: World Journal for Pediatric & Congenital Heart Surgery
https://read.qxmd.com/read/38464057/mitotic-block-and-epigenetic-repression-underlie-neurodevelopmental-defects-and-neurobehavioral-deficits-in-congenital-heart-disease
#15
George C Gabriel, Hisato Yagi, Tuantuan Tan, Abha S Bais, Benjamin J Glennon, Margaret C Stapleton, Lihua Huang, William T Reynolds, Marla G Shaffer, Madhavi Ganapathiraju, Dennis Simon, Ashok Panigrahy, Yijen L Wu, Cecilia W Lo
Poor neurodevelopment is often observed with congenital heart disease (CHD), especially with mutations in chromatin modifiers. Here analysis of mice with hypoplastic left heart syndrome (HLHS) arising from mutations in Sin3A associated chromatin modifier Sap130 , and adhesion protein Pcdha9, revealed neurodevelopmental and neurobehavioral deficits reminiscent of those in HLHS patients. Microcephaly was associated with impaired cortical neurogenesis, mitotic block, and increased apoptosis. Transcriptional profiling indicated dysregulated neurogenesis by REST, altered CREB signaling regulating memory and synaptic plasticity, and impaired neurovascular coupling modulating cerebral blood flow...
February 26, 2024: bioRxiv
https://read.qxmd.com/read/38459574/structural-brain-abnormalities-in-pallister-killian-syndrome-a-neuroimaging-study-of-31-children
#16
JOURNAL ARTICLE
Anna Fetta, Francesco Toni, Ilaria Pettenuzzo, Emilia Ricci, Alessandro Rocca, Caterina Gambi, Luca Soliani, Veronica Di Pisa, Silvia Martini, Giacomo Sperti, Valeria Cagnazzo, Patrizia Accorsi, Emanuele Bartolini, Domenica Battaglia, Pia Bernardo, Maria Paola Canevini, Anna Rita Ferrari, Lucio Giordano, Chiara Locatelli, Margherita Mancardi, Alessandro Orsini, Tommaso Pippucci, Dario Pruna, Anna Rosati, Agnese Suppiej, Sara Tagliani, Alessandro Vaisfeld, Aglaia Vignoli, Kosuke Izumi, Ian Krantz, Duccio Maria Cordelli
BACKGROUND: Pallister-Killian syndrome (PKS) is a rare genetic disorder caused by mosaic tetrasomy of 12p with wide neurological involvement. Intellectual disability, developmental delay, behavioral problems, epilepsy, sleep disturbances, and brain malformations have been described in most individuals, with a broad phenotypic spectrum. This observational study, conducted through brain MRI scan analysis on a cohort of patients with genetically confirmed PKS, aims to systematically investigate the neuroradiological features of this syndrome and identify the possible existence of a typical pattern...
March 8, 2024: Orphanet Journal of Rare Diseases
https://read.qxmd.com/read/38459240/surgical-modulation-of-pulmonary-artery-shear-stress-a-patient-specific-cfd-analysis-of-the-norwood-procedure
#17
JOURNAL ARTICLE
Simbarashe G Chidyagwai, Michael S Kaplan, Christopher W Jensen, James S Chen, Reid C Chamberlain, Kevin D Hill, Piers C A Barker, Timothy C Slesnick, Amanda Randles
PURPOSR: This study created 3D CFD models of the Norwood procedure for hypoplastic left heart syndrome (HLHS) using standard angiography and echocardiogram data to investigate the impact of shunt characteristics on pulmonary artery (PA) hemodynamics. Leveraging routine clinical data offers advantages such as availability and cost-effectiveness without subjecting patients to additional invasive procedures. METHODS: Patient-specific geometries of the intrathoracic arteries of two Norwood patients were generated from biplane cineangiograms...
March 8, 2024: Cardiovascular Engineering and Technology
https://read.qxmd.com/read/38456586/human-split-hand-foot-variants-are-not-as-functional-as-wildtype-human-prdm1%C3%A2-in-the-rescue-of-craniofacial-defects
#18
JOURNAL ARTICLE
Brittany T Truong, Lomeli C Shull, Bryan J Zepeda, Ezra Lencer, Kristin B Artinger
BACKGROUND: Split hand/foot malformation (SHFM) is a congenital limb disorder presenting with limb anomalies, such as missing, hypoplastic, or fused digits, and often craniofacial defects, including a cleft lip/palate, microdontia, micrognathia, or maxillary hypoplasia. We previously identified three novel variants in the transcription factor, PRDM1, that are associated with SHFM phenotypes. One individual also presented with a high arch palate. Studies in vertebrates indicate that PRDM1 is important for development of the skull; however, prior to our study, human variants in PRDM1 had not been associated with craniofacial anomalies...
March 2024: Birth Defects Research
https://read.qxmd.com/read/38451454/-1-h-13-c-and-15-n-backbone-resonance-assignments-of-hepatocyte-nuclear-factor-1-beta-hnf1%C3%AE-pou-s-and-pou-hd
#19
JOURNAL ARTICLE
Sayaka Hokazono, Eri Imagawa, Daishi Hirano, Takahisa Ikegami, Kimihiko Oishi, Tsuyoshi Konuma
Hepatocyte nuclear factor 1β (HNF1β) is a transcription factor that plays a key role in the development and function of the liver, pancreas, and kidney. HNF1β plays a key role in early vertebrate development and the morphogenesis of these organs. In humans, heterozygous mutations in the HNF1B gene can result in organ dysplasia, making it the most common cause of developmental renal diseases, including renal cysts, renal malformations, and familial hypoplastic glomerular cystic kidney disease...
March 7, 2024: Biomolecular NMR Assignments
https://read.qxmd.com/read/38450920/establishment-of-a-diamond-blackfan-anemia-like-model-in-zebrafish
#20
JOURNAL ARTICLE
Yiming Ling, Jiaye Wu, Yushi Liu, Panpan Meng, Ying Sun, Dejian Zhao, Qing Lin
BACKGROUND: Anemia is defined as a lack of erythrocytes, low hemoglobin levels, or abnormal erythrocyte morphology. Diamond-Blackfan anemia (DBA) is a rare and severe congenital hypoplastic anemia that occurs due to the dominant inheritance of a ribosomal protein gene mutation. Even rarer is a case described as Diamond-Blackfan anemia like (DBAL), which occurs due to a loss-of-function EPO mutation recessive inheritance. The effective cures for DBAL are bone marrow transfusion and treatment with erythropoiesis-stimulating agents (ESAs)...
March 7, 2024: Developmental Dynamics
keyword
keyword
163250
1
2
Fetch more papers »
Fetching more papers... Fetching...
Remove bar
Read by QxMD icon Read
×

Save your favorite articles in one place with a free QxMD account.

×

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"

We want to hear from doctors like you!

Take a second to answer a survey question.