Download full-text PDF |
Source |
|---|
Publication Analysis
Top Keywords
Similar Publications
Daily executive functioning in adults with pediatric hemispherectomy.
Epilepsy Res
January 2025
Fuller Graduate School of Psychology, Travis Research Institute, Pasadena, CA 91101, United States; International Research Consortium for the Corpus Callosum and Cerebral Connectivity (IRC5), Pasadena, CA 91106, United States; California Institute of Technology, Division of Humanities and Social Sciences, Pasadena, CA 91125, United States. Electronic address:
Background And Aims: For young children with intractable epilepsy caused by congenital abnormalities or acquired cortical lesions, pediatric hemispherectomy surgery (pHS) may offer the only path to seizure remediation. Although some sensory and motor outcomes of pHS are highly predictable, the long-term cognitive and functional sequelae of pHS are far more variable. With the aim of identifying potential post-pHS intervention targets, the current study examined daily executive functioning and self-awareness in adults with pHS and broadly intact cognitive outcomes (indicated by average or above performance on intelligence tests).
View Article and Find Full Text PDFSleep and breathing in children with Joubert syndrome and a review of other rare congenital hindbrain malformations.
Ther Adv Respir Dis
January 2025
Division of Pulmonary and Sleep Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle Children's Hospital, 4800 Sand Point Way NE, OC 7.730, Seattle, WA 98105, USA.
Background: Joubert syndrome (JS) is an autosomal recessive disorder with a distinctive mid-hindbrain malformation known as the "molar tooth sign" which involves the breathing control center and its connections with other structures. Literature has reported significant respiratory abnormalities which included hyperpnea interspersed with apneic episodes during wakefulness. Larger-scale studies looking at polysomnographic findings or subjective reports of sleep problems in this population have not yet been published.
View Article and Find Full Text PDFOral and Maxillofacial Manifestations of Kallmann Syndrome: A Systematic Analysis of the Literature.
Spec Care Dentist
January 2025
Department of Oral and Maxillofacial Pathology, School of Dentistry, Universidade de Pernambuco, Recife, Pernambuco, Brazil.
Aims: Kallmann syndrome (KS) is a rare genetic disorder characterized by congenital hypogonadotropic hypogonadism and varied clinical features. Despite its recognition, the oral and maxillofacial manifestations remain poorly understood. This study synthesized clinical aspects and management of KS-related oral and maxillofacial alterations.
View Article and Find Full Text PDFInhibition of aortic CX3CR1+ macrophages mitigates thoracic aortic aneurysm progression in Marfan syndrome in mice.
J Clin Invest
January 2025
Department of Physiology and Pathophysiology, School of Basic Medical Sciences, Peking University; State Key Laboratory of Vascular Homeostasis and Remodeling, Peking University, Beijing, China.
The pathogenesis of thoracic aortic aneurysm (TAA) in Marfan syndrome (MFS) is generally attributed to vascular smooth muscle cell (VSMC) pathologies. However, the role of immune cell-mediated inflammation remains elusive. Single-cell RNA sequencing identified a subset of CX3CR1+ macrophages mainly located in the intima in the aortic roots and ascending aortas of Fbn1C1041G/+ mice, further validated in MFS patients.
View Article and Find Full Text PDFMaternal mental disorders, psychotropic drugs, socioeconomic status, and offspring congenital anomalies.
J Int Med Res
January 2025
Department of General Practice and Primary Health Care, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
Objective: To evaluate whether there is an association between maternal mental health, purchase of psychotropic drugs, socioeconomic status and major congenital anomalies in offspring.
Methods: A register-based cohort study of 6189 Finnish primiparous women who had a singleton delivery between 2009 and 2015. Data on pregnancy and delivery outcomes, psychiatric diagnosis, prescription drug purchases and offspring congenital anomalies were obtained from Finnish national registers.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!