Abstract CEP152 is essential for centriole function and neurodevelopment, and pathogenic recessive variants in CEP152 cause primary microcephaly. We identified new compound heterozygous CEP152 variants, c.314 G > A,p.(W105*) and c.2689 A > T,p.(K897*), in a microcephalic patient and analyzed them alongside a homozygous variant c.95 A > C,p.(Q32P) associated with severe microcephaly with marked gyral simplification. In vitro assays revealed distinct effects: p.K897* prevented centrosomal localization, p.W105* led to protein degradation, and p.Q32P retained centrosomal targeting but disrupted binding to Polo-like kinase 4, a key centriole biogenesis kinase and CEP152 partner. In vivo, both Cep152W105*/K897* and Cep152Q32P/Q32P knock-in mice displayed microcephaly; notably, Cep152Q32P/Q32P mice also exhibited severe cortical defects during brain development. Cellular analyses revealed centrosome dysfunction, mitotic errors, and increased apoptosis, which were exacerbated in Cep152Q32P/Q32P brains. Morphological examination, including electron microscopy, further demonstrated structural abnormalities of the centrosomes and centrioles in Cep152Q32P/Q32P brains. Electrophysiological and gene expression analyses confirmed variant-specific neuronal impairments, which correlate with clinical severity. Collectively, these findings demonstrate that distinct CEP152 variants disrupt neurodevelopment through different mechanisms, thereby explaining the spectrum of microcephaly severity and associated phenotypes.
Pediatric intracranial aneurysms (PIAs) are rare and present with distinct clinical and morphological features compared to adult cases. They are often associated with congenital anomalies, larger size, and unusual locations. Despite advancements in diagnosis and treatment, data about PIAs remain scarce. This study presents a 20-year single center experience in the management of PIAs, alongside a comprehensive literature review. A retrospective review of pediatric patients diagnosed with intracranial aneurysms at a tertiary center between January 2005 and January 2025. Demographic, clinical, radiological, and treatment data were collected. Functional outcomes were assessed using the Glasgow Outcome Scale (GOS). Descriptive statistics, chi-square tests were used for analysis. A narrative literature review was also performed. 38 patients with 61 aneurysms were included (63.2
Acquired atresia of the Eustachian tube (ET) is an uncommon but debilitating condition that can significantly impair middle ear ventilation and drainage, leading to chronic otitis media, conductive hearing loss, and aural fullness. Despite its impact, diagnosis and management remain challenging, with limited literature on standardized approaches. This case series aims to describe the clinical presentation, imaging findings, surgical management, and outcomes of three adult patients with acquired ET atresia treated using multimodal surgical interventions, including balloon dilation, laser-assisted dissection, and microdebrider techniques. We retrospectively reviewed three adult cases presenting with persistent otologic symptoms refractory to conventional medical and ventilation tube therapy. Diagnosis was confirmed through endoscopic evaluation and imaging. Surgical intervention targeted restoration of ET patency using endoscopic and microscopic techniques tailored to the anatomical findings of each case. All patients demonstrated symptomatic improvement postoperatively, with reduced otorrhea, otalgia, and improved middle ear aeration, and improvement in ETDQ-7 average score. Use of adjunctive techniques such as balloon dilation and short-term stenting helped maintain patency and enhance outcomes. No major complications were noted. A multimodal, individualized approach to acquired ET atresia can provide significant clinical benefit. Adjunctive use of balloon dilation, laser, and microdebrider techniques enhances surgical success. Further research is needed to determine long-term outcomes and optimal treatment protocols.
Medical device-related pressure injuries (MDRPIs) represent a growing and often overlooked complication in critical care environments. These injuries, result from prolonged contact with essential therapeutic equipment such as endotracheal tubes, catheters, and monitoring devices, posing a significant threat to patient safety and recovery.This systematic review synthesizes current research on the incidence and prevalence of MDRPIs in intensive care units, highlighting key risk factors including immobility, impaired perfusion, and the complexity of care in critically ill populations. Attention is drawn to the variability in reporting standards and methodological inconsistencies across studies, which obscure the true burden of MDRPIs globally. In examining evidence from diverse healthcare systems, this review emphasizes the urgent need for standardized protocols, early detection strategies, and multidisciplinary approaches to prevent device-related tissue damage. Addressing this silent threat is vital not only to improve patient outcomes but also to reduce healthcare-associated costs and strengthen the culture of safety in critical care settings.
To evaluate the effect of adding flash glucose monitoring (Flash GM) to glucagon-like peptide-1 receptor agonist (GLP-1RA) therapy on glycemic and metabolic outcomes in people with type 2 diabetes (PwT2D) who failed to achieve target HbA1c levels. A prospective cohort study enrolled 264 PwT2D who were on stable GLP-1RA therapy and had failed to reach an HbA1c target of ≤ 7.0
