keyword
https://read.qxmd.com/read/38762603/new-diagnostic-criteria-for-metopic-ridges-and-trigonocephaly-a-3d-geometric-approach
#1
JOURNAL ARTICLE
Kevin Bloch, Maya Geoffroy, Maxime Taverne, Lara van de Lande, Eimear O'Sullivan, Ce Liang, Giovanna Paternoster, Mehran Moazen, Sébastien Laporte, Roman Hossein Khonsari
BACKGROUND: Trigonocephaly occurs due to the premature fusion of the metopic suture, leading to a triangular forehead and hypotelorism. This condition often requires surgical correction for morphological and functional indications. Metopic ridges also originate from premature metopic closure but are only associated with mid-frontal bulging; their surgical correction is rarely required. Differential diagnosis between these two conditions can be challenging, especially in minor trigonocephaly...
May 18, 2024: Orphanet Journal of Rare Diseases
https://read.qxmd.com/read/38753331/music-therapy-in-infancy-and-neurodevelopmental-outcomes-in-preterm-children-a-secondary-analysis-of-the-longstep-randomized-clinical-trial
#2
RANDOMIZED CONTROLLED TRIAL
Lucja Bieleninik, Ingrid Kvestad, Christian Gold, Andreas Størksen Stordal, Jörg Assmus, Shmuel Arnon, Cochavit Elefant, Mark Ettenberger, Tora Söderström Gaden, Dafna Haar-Shamir, Tonje Håvardstun, Marcela Lichtensztejn, Julie Mangersnes, Anne-Marthe Nygård Wiborg, Bente Johanne Vederhus, Claire M Ghetti
IMPORTANCE: Preterm children are at risk for neurodevelopment impairments. OBJECTIVE: To evaluate the effect of a music therapy (MT) intervention (parent-led, infant-directed singing) for premature children during the neonatal intensive care unit (NICU) stay and/or after hospital discharge on language development at 24 months' corrected age (CA). DESIGN, SETTING, AND PARTICIPANTS: This predefined secondary analysis followed participants in the LongSTEP (Longitudinal Study of Music Therapy's Effectiveness for Premature Infants and Their Caregivers) randomized clinical trial, which was conducted from August 2018 to April 2022 in 8 NICUs across 5 countries (Argentina, Colombia, Israel, Norway, and Poland) and included clinic follow-up visits and extended interventions after hospital discharge...
May 1, 2024: JAMA Network Open
https://read.qxmd.com/read/38749357/endoscopic-surgery-for-craniosynostosis-a-systematic-review-and-single-arm-meta-analysis
#3
REVIEW
Silvio Porto Junior, Davi Amorim Meira, Beatriz Lopes Bernardo da Cunha, Jefferson Fontes, Hugo Nunes Pustilnik, Matheus Gomes da Silva da Paz, Taiane Brito Araujo, Tancredo Alcântara, Jules Carlos Dourado, Leonardo Miranda de Avellar
BACKGROUND: Craniosynostosis, a developmental craniofacial anomaly, can impair brain development and cause abnormal skull shape due to premature closure of one or more cranial sutures. Traditional surgical treatments have evolved from open operations to minimally invasive endoscopic techniques. This systematic review and meta-analysis aim to evaluate the effectiveness and safety of the endoscopic approach in craniosynostosis correction. METHODS: Adhering to Cochrane Group standards and the PRISMA framework, this review utilized databases like PubMed, Embase, and Web of Science, focusing on clinical and surgical outcomes of endoscopic craniosynostosis operations up to December 2023...
May 3, 2024: Clinical Neurology and Neurosurgery
https://read.qxmd.com/read/38734804/a-practical-gestational-age-based-algorithm-for-timely-detection-of-hypothyroidism-in-premature-infants
#4
JOURNAL ARTICLE
Avni N Shah, Wen Li, Denise Zheng, Sana Lalani, Dinushan C Kaluarachchi, Tina O Findley
OBJECTIVES: To assess utility and accuracy of a gestational age-based screening targeting premature infants to detect congenital hypothyroidism. STUDY DESIGN: A prospective cohort study was conducted in infants <35 weeks' gestational age with clinical outcomes at 2-3 years of age. Patients received newborn screenings at 24 hours and 10-14 days of life. Free T4 (FT4) and thyroid-stimulating hormone (TSH) levels were measured at one month of life and repeated based on algorithm by corrected gestational age...
May 11, 2024: Journal of Perinatology: Official Journal of the California Perinatal Association
https://read.qxmd.com/read/38726883/magnesium-sulphate-for-women-at-risk-of-preterm-birth-for-neuroprotection-of-the-fetus
#5
REVIEW
Emily S Shepherd, Shona Goldsmith, Lex W Doyle, Philippa Middleton, Stéphane Marret, Dwight J Rouse, Peter Pryde, Hanne T Wolf, Caroline A Crowther
BACKGROUND: Magnesium sulphate is a common therapy in perinatal care. Its benefits when given to women at risk of preterm birth for fetal neuroprotection (prevention of cerebral palsy for children) were shown in a 2009 Cochrane review. Internationally, use of magnesium sulphate for preterm cerebral palsy prevention is now recommended practice. As new randomised controlled trials (RCTs) and longer-term follow-up of prior RCTs have since been conducted, this review updates the previously published version...
May 10, 2024: Cochrane Database of Systematic Reviews
https://read.qxmd.com/read/38725786/transforming-smiles-a-case-study-on-monolithic-zirconia-prosthetic-solutions
#6
Mithilesh M Dhamande, Arushi Beri, Seema Sathe, Tanvi Jaiswal, Surekha A Dubey
In order to effectively address challenges related to anterior teeth restoration and achieve natural-looking results, considerations such as shape, size, gingival contour, and color are crucial. Due to an increasing desire for visually appealing alternatives that are free of metal, materials such as dental zirconia have become popular because of their superior aesthetics and mechanical characteristics. This case report presents clinical insights into anterior teeth rehabilitation with the use of layered zirconia fixed dental prostheses...
April 2024: Curēus
https://read.qxmd.com/read/38725656/readthrough-induced-misincorporated-amino-acid-ratios-guide-mutant-specific-therapeutic-approaches-for-two-cftr-nonsense-mutations
#7
JOURNAL ARTICLE
Aiswarya Premchandar, Ruiji Ming, Abed Baiad, Dillon F Da Fonte, Haijin Xu, Denis Faubert, Guido Veit, Gergely L Lukacs
Cystic fibrosis (CF) is a monogenic disease caused by mutations in the CF transmembrane conductance regulator ( CFTR ) gene. Premature termination codons (PTCs) represent ∼9% of CF mutations that typically cause severe expression defects of the CFTR anion channel. Despite the prevalence of PTCs as the underlying cause of genetic diseases, understanding the therapeutic susceptibilities of their molecular defects, both at the transcript and protein levels remains partially elucidated. Given that the molecular pathologies depend on the PTC positions in CF, multiple pharmacological interventions are required to suppress the accelerated nonsense-mediated mRNA decay (NMD), to correct the CFTR conformational defect caused by misincorporated amino acids, and to enhance the inefficient stop codon readthrough...
2024: Frontiers in Pharmacology
https://read.qxmd.com/read/38723255/correction-three-day-monitoring-of-adhesive-single-lead-electrocardiogram-patch-for-premature-ventricular-complex-prospective-study-for-diagnosis-validation-and-evaluation-of-burden-fluctuation
#8
Hyo-Jeong Ahn, Eue-Keun Choi, So-Ryoung Lee, Soonil Kwon, Hee-Seok Song, Young-Shin Lee, Seil Oh
[This corrects the article DOI: 10.2196/46098.].
May 9, 2024: Journal of Medical Internet Research
https://read.qxmd.com/read/38715669/erratum-to-risk-factors-for-brain-injury-in-premature-infants-with-twin-to-twin-transfusion-syndrome-a-retrospective-cohort-study
#9
(no author information available yet)
[This corrects the article DOI: 10.21037/tp-23-387.].
April 30, 2024: Translational Pediatrics
https://read.qxmd.com/read/38713278/-feed-and-wrap-technique-versus-deep-sedation-for-neonatal-magnetic-resonance-imaging-a-retrospective-comparative-study
#10
JOURNAL ARTICLE
André Lollert, Kim Sophie Frey, Christian Hoffmann, Markus Herbst, Jochem König, Isabella Schmeh, Frank Dette, Gundula Staatz
OBJECTIVES: Neonatal MRI is usually performed under deep sedation, which is challenging-especially in low-weight premature patients. In addition, long-term side effects, such as neurotoxicity, are of concern. An alternative to sedation is to induce natural sleep by feeding and immobilising the child, the "feed-and-wrap" technique (FWT). The objective of this study was to evaluate differences in image quality between neonates examined under sedation and by using the FWT during the first four months of life...
May 7, 2024: European Radiology
https://read.qxmd.com/read/38709738/early-neurodevelopmental-assessments-for-predicting-long-term-outcomes-in-infants-at-high-risk-of-cerebral-palsy
#11
JOURNAL ARTICLE
Abdul Razak, Emily Johnston, Vathana Sackett, Marissa Clark, Margaret Charlton, Lindsay Zhou, Pramod Pharande, Courtney A McDonald, Rod W Hunt, Suzanne L Miller, Atul Malhotra
IMPORTANCE: Studies suggest that early neurodevelopmental assessments are beneficial for identifying cerebral palsy, yet their effectiveness in practical scenarios and their ability to detect cognitive impairment are limited. OBJECTIVE: To assess the effectiveness of early neurodevelopmental assessments in identifying cerebral palsy and cognitive and other neurodevelopmental impairments, including their severity, within a multidisciplinary clinic. DESIGN, SETTING, AND PARTICIPANTS: This diagnostic study was conducted at Monash Children's Hospital, Melbourne, Australia...
May 1, 2024: JAMA Network Open
https://read.qxmd.com/read/38709389/ic100-a-humanized-therapeutic-monoclonal-anti-asc-antibody-alleviates-oxygen-induced-retinopathy-in-mice
#12
JOURNAL ARTICLE
Huijun Yuan, Shaoyi Chen, Matthew R Duncan, Juan Pablo de Rivero Vaccari, Robert W Keane, W Dalton Dietrich, Tsung-Han Chou, Merline Benny, Augusto F Schmidt, Karen Young, Kevin K Park, Vittorio Porciatti, M Elizabeth Hartnett, Shu Wu
BACKGROUND: Retinopathy of prematurity (ROP), which often presents with bronchopulmonary dysplasia (BPD), is among the most common morbidities affecting extremely premature infants and is a leading cause of severe vision impairment in children worldwide. Activations of the inflammasome cascade and microglia have been implicated in playing a role in the development of both ROP and BPD. Apoptosis-associated speck-like protein containing a caspase recruitment domain (ASC) is pivotal in inflammasome assembly...
May 6, 2024: Angiogenesis
https://read.qxmd.com/read/38707946/hypertensive-emergency-team-based-learning
#13
JOURNAL ARTICLE
Khoa Nguyen, Jordan Gawon Shin, Jessica Andrusaitis
AUDIENCE: The target audiences for this team-based learning (TBL) activity are resident physicians and medical students. INTRODUCTION: According to the Centers for Disease Control and Prevention (CDC), nearly half of the adults in the United States have hypertension,1 which is a leading cause of cardiovascular disease and premature death.2 In extreme cases, patients may present in hypertensive emergencies, defined as an acute, marked elevation of systolic blood pressure >180mmHg or diastolic blood pressure >120mmHg with evidence of organ dysfunction...
April 2024: Journal of education & teaching in emergency medicine
https://read.qxmd.com/read/38705692/breastfeeding-practice-before-bottle-feeding-an-initiative-to-increase-the-rate-of-breastfeeding-for-preterm-infants-at-the-time-of-neonatal-intensive-care-unit-discharge
#14
REVIEW
Raylene Phillips, Dawn VanNatta, Jenny Chu, Allison Best, Pamela Ruiz, Tonya Oswalt, Dianne Wooldridge, Elba Fayard
Preterm babies who received 72 hours of breastfeeding practice before introducing a bottle had significantly higher rates of breastfeeding at the time of neonatal intensive care unit (NICU) discharge than did babies who were introduced to bottle-feeding with or before breastfeeding during the first 72 hours of oral feeding or babies who were primarily bottle-fed. There were no statistical differences in corrected gestational age (CGA) at birth, first oral feeding, or full oral feeds, in days from first to full oral feeds, or in CGA or days of life at NICU discharge...
June 2024: Critical Care Nursing Clinics of North America
https://read.qxmd.com/read/38698955/post-transcriptional-regulation-of-gene-expression-via-unproductive-splicing
#15
JOURNAL ARTICLE
L G Zavileyskiy, D D Pervouchine
Unproductive splicing is a mechanism of post-transcriptional gene expression control in which premature stop codons are inserted into protein-coding transcripts as a result of regulated alternative splicing, leading to their degradation via the nonsense-mediated decay pathway. This mechanism is especially characteristic of RNA-binding proteins, which regulate each other's expression levels and those of other genes in multiple auto- and cross-regulatory loops. Deregulation of unproductive splicing is a cause of serious human diseases, including cancers, and is increasingly being considered as a prominent therapeutic target...
2024: Acta Naturae
https://read.qxmd.com/read/38680828/palpitations-in-puerperium-a-self-recorded-smart-watch-ecg-gives-the-hint-to-hormone-induced-ventricular-arrhythmia-case-report
#16
Paulina Anna Jankowska, Christian Georgi, Marwin Bannehr, Christian Butter
BACKGROUND: Gender-related aspects in cardiac arrhythmias have gained increasing attention, still the understanding of peripartum electrical disorders remains vague. CASE SUMMARY: A 28-year-old woman developed palpitations and presyncopes during the post-partum period after her second pregnancy. Palpitations remained unclear until a self-recorded single-lead smartwatch ECG revealed a complete episode of a fast broad complex tachycardia (260 b.p.m.) that led to hospital admission...
April 2024: European Heart Journal. Case Reports
https://read.qxmd.com/read/38680552/dose-response-evaluation-of-intravenous-gene-therapy-in-a-symptomatic-mouse-model-of-metachromatic-leukodystrophy
#17
JOURNAL ARTICLE
Emilie Audouard, Nicolas Khefif, Charlotte Mansat, Océane Nelcha, Elena-Gaia Banchi, Camille Lupiet, Dominique Farabos, Antonin Lamaziere, Caroline Sevin, Françoise Piguet
Metachromatic leukodystrophy (MLD) is a rare, autosomal recessive neurodegenerative disease caused by deficient activity of the lysosomal enzyme arylsulfatase A (ARSA), resulting in sulfatide accumulation and subsequent demyelination and neuronal damage within the central and peripheral nervous systems. Three clinical forms of MLD have been described, based on age at symptom onset. The most frequent and severe forms have an early onset, with the disease progressing rapidly toward severe motor and cognitive regression and ultimately premature death...
June 13, 2024: Molecular Therapy. Methods & Clinical Development
https://read.qxmd.com/read/38674890/human-milk-oligosaccharides-growth-and-body-composition-in-very-preterm-infants
#18
JOURNAL ARTICLE
Margaret L Ong, Sara Cherkerzian, Katherine A Bell, Paige K Berger, Annalee Furst, Kristija Sejane, Lars Bode, Mandy B Belfort
Human milk oligosaccharides (HMOs) are bioactive factors that benefit neonatal health, but little is known about effects on growth in very preterm infants (<32 weeks' gestation). We aimed to quantify HMO concentrations in human milk fed to very preterm infants during the neonatal hospitalization and investigate associations of HMOs with infant size and body composition at term-equivalent age. In 82 human-milk-fed very preterm infants, we measured HMO concentrations at two time points. We measured anthropometrics and body composition with air displacement plethysmography at term-equivalent age...
April 18, 2024: Nutrients
https://read.qxmd.com/read/38672751/early-intervention-guided-by-the-general-movements-examination-at-term-corrected-age-short-term-outcomes
#19
JOURNAL ARTICLE
Adrian Ioan Toma, Vlad Dima, Adelina Alexe, Cristina Bojan, Alexandra Floriana Nemeș, Bogdan Florin Gonț, Alexandra Arghirescu, Andreea Ioana Necula, Alina Fieraru, Roxana Stoiciu, Andrada Mirea, Andreea Calomfirescu Avramescu, Al Jashi Isam
BACKGROUND AND AIM: The early identification of the former premature neonates at risk of neurologic sequelae could lead to early intervention and a better prognosis. This pilot study aimed to investigate whether the General Movement patterns observed at term-equivalent age in former premature infants could serve as predictors for guiding early intervention and improving prognosis. MATERIALS AND METHODS: In a population of 44 premature neonates (mean gestational age 33...
April 5, 2024: Life
https://read.qxmd.com/read/38671212/simple-risk-scoring-using-sinus-rhythm-electrocardiograms-predicts-the-incidence-of-atrial-fibrillation-in-the-general-population
#20
JOURNAL ARTICLE
Hiroyuki Kamada, Shin Kawasoe, Takuro Kubozono, Yuichi Ninomiya, Kei Enokizono, Issei Yoshimoto, Yasuhisa Iriki, Yoshiyuki Ikeda, Masaaki Miyata, Hironori Miyahara, Koichi Tokushige, Mitsuru Ohishi
Atrial fibrillation (AF) is an arrhythmic disease. Prediction of AF development in healthy individuals is important before serious complications occur. We aimed to develop a risk prediction score for future AF using participants' data, including electrocardiogram (ECG) measurements and information such as age and sex. We included 88,907 Japanese participants, aged 30-69 years, who were randomly assigned to derivation and validation cohorts in a ratio of 1:1. We performed multivariate logistic regression analysis and obtained the standardised beta coefficient of relevant factors and assigned scores to them...
April 26, 2024: Scientific Reports
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