keyword
https://read.qxmd.com/read/38712026/a-de-novo-variant-in-pak2-detected-in-an-individual-with-knobloch-type-2-syndrome
#1
Elizabeth A Werren, Louisa Kalsner, Jessica Ewald, Michael Peracchio, Cameron King, Purva Vats, Peter A Audano, Peter N Robinson, Mark D Adams, Melissa A Kelly, Adam P Matson
P21-activated kinase 2 (PAK2) is a serine/threonine kinase essential for a variety of cellular processes including signal transduction, cellular survival, proliferation, and migration. A recent report proposed monoallelic PAK2 variants cause Knobloch syndrome type 2 (KNO2)-a developmental disorder primarily characterized by ocular anomalies. Here, we identified a novel de novo heterozygous missense variant in PAK2 , NM_002577.4:c.1273G>A, p.(D425N), by whole genome sequencing in an individual with features consistent with KNO2...
April 22, 2024: bioRxiv
https://read.qxmd.com/read/38706483/interventional-heart-catheterization-to-close-atrial-septal-defect-patent-ductus-arteriosus-ventricular-septal-defect-in-a-3-5-year-old-girl-a-case-report-study
#2
Zahra Kamiab, Reza Derakhshan
The aim of this study was to introduce an interventional heart catheterization to close patent ductus arteriosus (PDA), ventricular septal defect (VSD), atrial septal defect (ASD), and pulmonary hypertension without complications from open heart surgery and a 3-day hospitalization period. PDA, VSD, and ASD are among the most common abnormalities associated with various complications. This case is a 3.5-year-old girl with frequent lung infections and Failure to thrive. Treatment in the first stage aims to close the PDA using Amplatzer ADO II type AGA, size 5-6 mm and ASD using Amplatzer Septal Occluder size 15 mm...
May 2024: Journal of Surgical Case Reports
https://read.qxmd.com/read/38703045/successful-one-stage-surgical-repair-in-a-rare-adult-patient-with-berry-syndrome
#3
JOURNAL ARTICLE
Sisi Pan, Jue Bai, Feng Wang, Siyuan Yang, Xuanyi Hu, Wanfu Peng, Guiyou Liang
BACKGROUND: Berry syndrome is a rare congenital cardiac malformation, herein we report an adult male patient who was successfully repaired by one-stage surgery. CASE DESCRIPTION: 18-year-old male patient presenting symptoms of chest tightness and shortness for over a year presented to outpatient clinic in our department to have corrective procedure heart. CTA revealed an Aortopulmonary Window (APW) type III, measuring 4.6 cm in maximum diameter. The right pulmonary artery originated from the ascending aorta, and the pulmonary trunk exhibited dilation with dimensions of 8...
May 4, 2024: Perfusion
https://read.qxmd.com/read/38701807/-esophageal-stenosis-as-a-result-of-a-right-aortic-arch-in-2-cats
#4
JOURNAL ARTICLE
Lena Mackus, Anja Masche, Robert Höpfner, Kay Schmerbach
A 3-month-old and a 4-year-old cat were presented in the clinic due to regurgitation. The kitten had displayed the symptoms since it had been fed solid foods and was smaller than the litter mates. The 4-year-old cat showed sudden-onset symptoms for 5 days prior to presentation and had a good general condition. Positive contrast thoracic radiographs of both cats in lateral recumbency showed an esophageal dilatation cranial to the heart base and raised a suspicion of foreign material with soft tissue density in this area...
April 2024: Tierärztliche Praxis. Ausgabe K, Kleintiere/Heimtiere
https://read.qxmd.com/read/38701804/-diagnosis-and-treatment-of-feline-persistent-ductus-arteriosus-a-retrospective-evaluation-of-17-cats
#5
JOURNAL ARTICLE
Anja Masche, Peter Breit, Robert Höpfner, Kay Schmerbach
OBJECTIVE: The objective of this study was to evaluate the signalement, clinical features, and echocardiographic findings of cats diagnosed with patent ductus arteriosus (PDA) as well as short- and medium-term outcome after successful ligation of the PDA. MATERIAL AND METHODS: Over a 10-year period 17 cats were diagnosed with PDA by transthoracic echocardiography. Thirteen cats were surgically treated by thoracotomy and ligation of the PDA. RESULTS: In all cats, a heart murmur was detected...
April 2024: Tierärztliche Praxis. Ausgabe K, Kleintiere/Heimtiere
https://read.qxmd.com/read/38701371/pulmonary-hypertension-and-lung-damage-associated-with-prolonged-exposure-to-patent-ductus-arteriosus-in-very-preterm-infants
#6
JOURNAL ARTICLE
Eduardo Villamor, Gema E Gonzalez-Luis
No abstract text is available yet for this article.
May 3, 2024: American Journal of Respiratory and Critical Care Medicine
https://read.qxmd.com/read/38699441/foveal-photoreceptor-atrophy-persistent-fetal-vasculature-congenital-cataracts-and-microphthalmia-in-a-pediatric-patient-with-bcor-associated-oculo-facio-cardio-dental-ofcd-syndrome
#7
Jason Fan, Natasha Ferreira Santos da Cruz, Catherin I Negron, Angela Y Zhu, Ta C Chang, Audina M Berrocal
PURPOSE: To report a case of oculo-facio-cardio-dental (OFCD) syndrome secondary to a novel BCOR variant in a pediatric patient with congenital cataracts, microphthalmia, persistent fetal vasculature (PFV), focal chorioretinal hyperpigmentation, peripheral retinal avascularity, and foveal photoreceptor atrophy. OBSERVATIONS: A 3-month-old female patient was referred for bilateral congenital cataracts with microphthalmia. Her past medical history was significant for syndactyly of the toes, left bifid rib, atrial septal defect, patent ductus arteriosus, mitral regurgitation, pulmonary hypertension, anemia of prematurity, vesicoureteral reflux, and duodenal atresia...
June 2024: American Journal of Ophthalmology Case Reports
https://read.qxmd.com/read/38695937/ductal-stenting-in-low-resource-environments
#8
REVIEW
Navaneetha Sasikumar, Pranoti Toshniwal, Praveen Reddy Bayya, Abish Sudhakar, Raman Krishna Kumar
Duct-dependent pulmonary circulation has traditionally been addressed by the Blalock-Taussig-Thomas shunts (BTTS). Recently, catheter-based alternatives such as ductal stenting have emerged as a particularly advantageous option, especially in resource-constrained settings. This article delves into the nuances of ductal stenting within low-resource environments, highlighting its relative ease of application, reduced morbidity, and cost-effectiveness as key factors in its favor. Comparisons in mortality between the two procedures are however likely to be confounded by selection biases...
May 2, 2024: Pediatric Cardiology
https://read.qxmd.com/read/38694676/incidence-and-predictors-of-bronchopulmonary-dysplasia-development-and-severity-among-preterm-infants-born-at-32-weeks-of-gestation-or-less
#9
JOURNAL ARTICLE
Ahmed Abushahin, Sara G Hamad, Amal Sabouni, Sufwan Alomar, Anoop Sudarsanan, Hiba Kammouh, Prem Chandra
Background As the most common chronic lung disease (CLD) related to premature birth, bronchopulmonary dysplasia (BPD) is associated with long-term lung disease along with cardiovascular and neurodevelopmental disorders. However, data on the incidence and predictors of BPD in Qatar are lacking. Objectives In this study, we aimed to determine the incidence of BPD among infants born at ≤ 32 weeks gestational age (GA) at our neonatal unit, and identify risk factors for the development of BPD and moderate-severe BPD...
April 2024: Curēus
https://read.qxmd.com/read/38693280/publisher-correction-association-between-patent-ductus-arteriosus-flow-and-home-oxygen-therapy-in-extremely-preterm-infants
#10
Jana Termerova, Ales A Kubena, Karel Liska, Viktor Tomek, Richard Plavka
No abstract text is available yet for this article.
April 30, 2024: Pediatric Research
https://read.qxmd.com/read/38692561/exposure-to-persistent-hemodynamically-significant-patent-ductus-arteriosus-is-associated-with-retinopathy-of-prematurity
#11
JOURNAL ARTICLE
Alison Ford, Madeline Beauchene, Amy H Stanford, Jonathan M Klein, John M Dagle, Danielle R Rios, Scott A Larson, Patrick J McNamara, Regan E Giesinger
BACKGROUND: Hemodynamically significant patent ductus arteriosus (hsPDA) shunt may predispose infants to retinopathy of prematurity (ROP) because of its higher preductal cardiac output and blood oxygen content, which may augment ocular oxygen delivery. METHODS: A retrospective cohort study of preterm infants, born at <27 weeks' gestation and admitted at <24h postnatal age to a large quaternary referral was conducted. The primary composite outcome was death at <32 weeks or moderate-to-severe ROP (≥stage 2 or requiring treatment) in either eye...
April 29, 2024: Journal of AAPOS: the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus
https://read.qxmd.com/read/38690430/survival-benefits-of-the-wait-and-grow-approach-in-small-babies-%C3%A2-2000-g-requiring-heart-surgery
#12
JOURNAL ARTICLE
Soichiro Henmi, Alyssia Venna, Mitchell C Haverty, Rittal Mehta, Manan Desai, Aybala Tongut, Can Yerebakan, Mary T Donofrio, Ricardo A Munoz, Yves d'Udekem
OBJECTIVE: The best approach to minimize the observed higher mortality of newborn infants with low birth weight who require congenital heart surgery is unclear. This retrospective study was designed to review outcomes of newborn infants weighing <2000 g who have undergone cardiovascular surgery to identify patient parameters and clinical strategies for care associated with higher survival. METHODS: A retrospective chart review of 103 patients who underwent cardiovascular surgery from 2010 to 2021 who were identified as having low birth weight (≤2000 g)...
April 2024: JTCVS open
https://read.qxmd.com/read/38689853/injection-laryngoplasty-for-children-with-dysphagia-after-cardiac-surgery
#13
JOURNAL ARTICLE
Derek Sheen, Thomas K Houser, Sofia E Olsson, Helene Dabbous, Yann-Fuu Kou, Romaine F Johnson, Stephen R Chorney
OBJECTIVE: To determine whether injection laryngoplasty (IL) resolves thin liquid aspiration among children with unilateral vocal cord paralysis (UVCP) after cardiac surgery. STUDY DESIGN: Retrospective case-control. SETTING: Tertiary children's hospital. METHODS: Consecutive children (<5 years) between 2012 and 2022 with UVCP after cardiac surgery were included. Resolution of thin liquid aspiration after IL versus observation was determined for children obtaining videofluoroscopic swallow studies (VFSS)...
2024: OTO Open
https://read.qxmd.com/read/38688148/from-skin-to-syndrome-the-progression-of-primary-cutaneous-aspergillosis-to-extremity-compartment-syndrome-in-a-premature-infant-case-report-and-review-of-the-literature
#14
Carmen Ramos-Irizarry
INTRODUCTION AND IMPORTANCE: Fungal infections in neonates, particularly primary cutaneous aspergillosis (PCA), pose significant risks to premature infants with very low birth weight. This report chronicles the case of a 22-week gestational age female, with a birth weight of 430 g, who developed extensive cutaneous aspergillosis leading to extremity compartment syndrome- a first in the medical and surgical literature. CASE PRESENTATION: A female micro preemie born at 22 weeks and 2 days was critically ill during her first week of life...
April 21, 2024: International Journal of Surgery Case Reports
https://read.qxmd.com/read/38687140/ebneo-commentary-patent-ductus-arteriosus-pda-to-treat-early-or-not-with-ibuprofen
#15
JOURNAL ARTICLE
Rashida Javed, Harsha Gowda
No abstract text is available yet for this article.
April 30, 2024: Acta Paediatrica
https://read.qxmd.com/read/38687009/computed-tomographic-features-of-canine-prostatic-carcinoma
#16
JOURNAL ARTICLE
Pascal Urlings, Irina Gramer, Coleen Jones, Helen Dirrig
Canine prostatic carcinoma (PC) has incompletely defined CT features. The purpose of this multicenter retrospective case series was to assess prostatic, regional, and distant findings of PC. Thirty dogs were enrolled. Consistent prostatic features included postcontrast heterogeneity with hypoattenuating, nonenhancing areas (30/30), capsular distortion (29/30), prostatic urethral effacement, displacement, or invasion (28/30), precontrast heterogeneity (27/30), and mineralization (24/30) which was always within or at the margin of the hypoattenuating areas...
April 30, 2024: Veterinary Radiology & Ultrasound
https://read.qxmd.com/read/38681706/-heyde-s-enigma-in-a-patient-with-congenital-annular-aortic-stenosis-and-its-therapeutic-challenges
#17
M Manjappa, D Kumar, N S Devananda
UNLABELLED: Heyde's syndrome is described as angio-dysplastic gastrointestinal (GI) bleeding in elderly patients with degenerative severe calcific aortic stenosis (AS), resulting in anaemia. It was first reported by Edward C. Heyde in 1958 and thus carried his name. Although this condition is considered to develop in 10-20% of severe AS, it is a less familiar entity in clinical practice. With the rising geriatric population in the communities, there is a proportionate increase in the incidence of AS and accompanying Heyde's syndrome...
May 2024: Indian Journal of Thoracic and Cardiovascular Surgery
https://read.qxmd.com/read/38680147/comparison-of-siglec-1-protein-networks-and-expression-patterns-in-sperm-and-male-reproductive-tracts-of-mice-rats-and-humans
#18
JOURNAL ARTICLE
Hazem Almhanna, Arun Hs Kumar, David Kilroy, Gina Duggan, Jane A Irwin, Bridget Hogg, Colm Reid
BACKGROUND: Sialic acid-binding immunoglobulin-like lectin 1 (Siglec-1) is a transmembrane glycoprotein involved in the sialic acid (Sia)-dependent regulation of the immune system. Siglec-1 expression has recently been identified in the male reproductive tract (MRT) of several species, including humans, cattle, horses, and sheep, and may play a role in modulating fertility in a Sia-dependent manner. MATERIALS AND METHODS: In this study, protein-protein interaction (PPI) analysis of Siglec-1 was conducted to identify associated network protein conservation, and the expression of Siglec-1 in the MRT of mice and rats, including their accessory sex glands and spermatozoa was determined by immunostaining...
March 2024: Veterinary World
https://read.qxmd.com/read/38678190/comparison-of-neurally-adjusted-ventilatory-assist-and-synchronized-intermittent-mandatory-ventilation-in-preterm-infants-after-patent-ductus-arteriosus-ligation-a-retrospective-study
#19
COMPARATIVE STUDY
Hui-Zi Lin, Yun-Feng Lin, Yi-Rong Zheng
OBJECTIVE: This study aimed to compare the efficacy of neurally adjusted ventilatory assist (NAVA) to synchronized intermittent mandatory ventilation (SIMV) in preterm infants requiring mechanical ventilation after patent ductus arteriosus (PDA) ligation. METHODS: A retrospective analysis was conducted on intubated preterm infants who underwent PDA ligation at our hospital from July 2021 to January 2023. Infants were divided into NAVA or SIMV groups based on the ventilation mode after surgery...
April 27, 2024: BMC Pediatrics
https://read.qxmd.com/read/38667731/ductus-arteriosus-in-fetal-and-perinatal-life
#20
REVIEW
Flaminia Pugnaloni, Daniela Doni, Mariella Lucente, Stefano Fiocchi, Irma Capolupo
The ductus arteriosus represents an essential vascular structure connecting the pulmonary artery and the aorta. Over the past decades, there has been substantial advancement in our understanding of both the fundamental and clinical aspects of the ductus arteriosus. In particular, the clarification of the regulatory mechanisms governing ductal patency in critical stages such as the fetal and the perinatal period has enabled optimal management of both physiological and pathological conditions in which the ductus arteriosus plays a crucial role...
April 1, 2024: Journal of Cardiovascular Development and Disease
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