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Neurocritical Care Aug 2023Aneurysmal subarachnoid hemorrhage is a medical condition that can lead to intracranial hypertension, negatively impacting patients' outcomes. This review article... (Review)
Review
Aneurysmal subarachnoid hemorrhage is a medical condition that can lead to intracranial hypertension, negatively impacting patients' outcomes. This review article explores the underlying pathophysiology that causes increased intracranial pressure (ICP) during hospitalization. Hydrocephalus, brain swelling, and intracranial hematoma could produce an ICP rise. Although cerebrospinal fluid withdrawal via an external ventricular drain is commonly used, ICP monitoring is not always consistently practiced. Indications for ICP monitoring include neurological deterioration, hydrocephalus, brain swelling, intracranial masses, and the need for cerebrospinal fluid drainage. This review emphasizes the importance of ICP monitoring and presents findings from the Synapse-ICU study, which supports a correlation between ICP monitoring and treatment with better patient outcomes. The review also discusses various therapeutic strategies for managing increased ICP and identifies potential areas for future research.
Topics: Humans; Subarachnoid Hemorrhage; Intracranial Pressure; Brain Edema; Hydrocephalus; Intracranial Hypertension; Monitoring, Physiologic
PubMed: 37280411
DOI: 10.1007/s12028-023-01752-y -
Ugeskrift For Laeger Mar 2024Permanent shunt diversion of cerebrospinal fluid away from the central nervous system is a widely recognized neurosurgical procedure. Still, patients with ventricular... (Review)
Review
Permanent shunt diversion of cerebrospinal fluid away from the central nervous system is a widely recognized neurosurgical procedure. Still, patients with ventricular shunts are at substantial risk of shunt dysfunction, which includes complications like mechanical shunt failure, abnormal shunt drainage and infection. Early detection of shunt dysfunction is essential to proper and timely treatment, and acute shunt dysfunction might require immediate intervention. This review summarizes current and potential strategies for investigation of shunt dysfunction.
Topics: Humans; Cerebrospinal Fluid Shunts; Hydrocephalus; Neurosurgical Procedures
PubMed: 38533863
DOI: 10.61409/V08230515 -
Human Molecular Genetics Jul 2023FOXJ1 is expressed in ciliated cells of the airways, testis, oviduct, central nervous system and the embryonic left-right organizer. Ablation or targeted mutation of...
FOXJ1 is expressed in ciliated cells of the airways, testis, oviduct, central nervous system and the embryonic left-right organizer. Ablation or targeted mutation of Foxj1 in mice, zebrafish and frogs results in loss of ciliary motility and/or reduced length and number of motile cilia, affecting the establishment of the left-right axis. In humans, heterozygous pathogenic variants in FOXJ1 cause ciliopathy leading to situs inversus, obstructive hydrocephalus and chronic airway disease. Here, we report a novel truncating FOXJ1 variant (c.784_799dup; p.Glu267Glyfs*12) identified by clinical exome sequencing from a patient with isolated congenital heart defects (CHD) which included atrial and ventricular septal defects, double outlet right ventricle (DORV) and transposition of the great arteries. Functional experiments show that FOXJ1 c.784_799dup; p.Glu267Glyfs*12, unlike FOXJ1, fails to induce ectopic cilia in frog epidermis in vivo or to activate the ADGB promoter, a downstream target of FOXJ1 in cilia, in transactivation assays in vitro. Variant analysis of patients with heterotaxy or heterotaxy-related CHD indicates that pathogenic variants in FOXJ1 are an infrequent cause of heterotaxy. Finally, we characterize embryonic-stage CHD in Foxj1 loss-of-function mice, demonstrating randomized heart looping. Abnormal heart looping includes reversed looping (dextrocardia), ventral looping and no looping/single ventricle hearts. Complex CHDs revealed by histological analysis include atrioventricular septal defects, DORV, single ventricle defects as well as abnormal position of the great arteries. These results indicate that pathogenic variants in FOXJ1 can cause isolated CHD.
Topics: Humans; Male; Forkhead Transcription Factors; Heart Atria; Heart Defects, Congenital; Heart Septal Defects; Heterotaxy Syndrome; Transposition of Great Vessels
PubMed: 37158461
DOI: 10.1093/hmg/ddad065