Results 191 to 200 of about 5,243,950 (288)

Foraminal subependymal nodules and subependymal giant cell astrocytoma in children with tuberous sclerosis

open access: yesDevelopmental Medicine &Child Neurology, EarlyView.
We studied 128 TSC referred to our tertiary centre between 2012 and 2024, with at least one brain imaging before 18 years, before neurosurgical or mTOR inhibitor treatment, and at least one fSEN. Median age at first and last imaging was 3 years 2 months and 12 years. Longitudinal fSEN evolution with age identified three growth patterns: non‐growing (71%
Sofia Ferri   +6 more
wiley   +1 more source

Evolving concepts in intracranial pressure monitoring - from traditional monitoring to precision medicine. [PDF]

open access: yesNeurotherapeutics
Mathur R   +15 more
europepmc   +1 more source

RLIM‐associated neurodevelopmental disorders: From clinical spectrum to molecular mechanisms

open access: yesThe FEBS Journal, EarlyView.
RLIM (RNF12) is an E3 ubiquitin ligase essential for mammalian development. Loss‐of‐function variants cause Tønne–Kalscheuer syndrome, while duplications cause Xq13 duplication syndrome, highlighting RLIM dosage sensitivity. This review summarizes the genetics, clinical features, and molecular mechanisms of RLIM‐associated disorders, integrating ...
Madison Landon   +4 more
wiley   +1 more source

Living With Factor VII Deficiency—A Mixed Methods Study

open access: yesHaemophilia, EarlyView.
ABSTRACT Background Factor VII deficiency (FVIID) is a rare autosomal recessive disorder, resulting in potentially unpredictable and life‐threatening bleeding. The prevalence of symptomatic patients is 1 in 300,000. Treatment is mostly given following bleeding, but those with the lowest levels may be offered prophylaxis.
Simon Fletcher   +3 more
wiley   +1 more source

Artificial Intelligence and Machine Learning in the Context of Hemophilia: A Scope Review

open access: yesHaemophilia, EarlyView.
ABSTRACT Introduction Advances in hemophilia treatment have improved life expectancy, yet challenges remain in disease management, predicting clinical complications, and optimizing healthcare resources. Artificial intelligence (AI) and machine learning (ML) have emerged as promising tools to support clinical decision‐making and personalized care ...
Tatyane Oliveira Rebouças   +4 more
wiley   +1 more source

Intracranial pressure monitoring in patients with geriatric trauma may not improve outcome but is associated with increases in resource utilization. [PDF]

open access: yesTrauma Surg Acute Care Open
Zangbar B   +7 more
europepmc   +1 more source

Hypertension among people living with HIV (PLHIV) compared with people without HIV (PWoH): A systematic review with meta‐analysis

open access: yesHIV Medicine, EarlyView.
Abstract Introduction Hypertension is a major cardiovascular risk factor and has increased among people living with HIV. However, evidence on its association with HIV status remains inconsistent. This systematic review aimed to assess the association between HIV status and hypertension and to examine, through subgroup analyses, whether this association
Mariene Garcia Gomes   +5 more
wiley   +1 more source

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