Introduction: Head injuries represent a major threat to public health and are significant risk factors for disability and death across all age groups worldwide. Objectives: The purpose of this study was to assess the medico legal aspect of traumatic head injuries and to identify factors affecting the outcome and mortality rates following these injuries. Methods: This was cross-sectional study of 2917 cases with head injuries attended to the Emergency and Neurosurgery Departments at Assiut University Hospitals, Assiut, Egypt, over a period of one year between September 2021 to August 2022. Demographic data and injury characteristics were gathered. The severity of head injury was assessed by the Glasgow Coma Scale (GCS). Results: A total of 2917 individuals with head injuries met the inclusion criteria. Nearly one third (34.2%) were in age <10 years and (27.9%) were between (25 to <50) years old. More than three quarters (79.7%) of cases were males. Fall from height was the most common mode of injuries (23.3%) followed by motor car accidents (21.2%). Accidental manner of exposure was the most common (94.2%). Nearly one third (32.7%) of head injuries were found at multiple sites of skull vault. Concomitant abdominal injuries were found in (87.4%) of cases. Vomiting was the most frequent clinical presentation (53.6%) among study cases. Mixed types of intracranial hemorrhage (18.7%) were the most frequent Computed Tomography (CT) scan findings. Three quarters (75%) of the study patients had complete recovery while 9% of them died. Intracranial hemorrhage was the most leading cause of death (37.5%). Conclusion: Adult males were most frequently exposed to head trauma, and falls from height were responsible for the majority. Most of the patients sustained mild head injuries. Death rate was significantly high in old age, in those with GCS score ≤13 and in those with associated cardiothoracic and urogenital injuries

Abstract

Background: Gaucher disease (GD) is an autosomal recessive lysosomal storage disorder (LSD) caused by GBA1 mutations, leading to glucosylceramide accumulation in macrophages. Early enzyme replacement or substrate reduction therapy improves outcomes, while delays can cause irreversible damage. The aim of this work to detect prevalence of neurological manifestations in different types of GD patients.

Methods: This observational hospital based cross-sectional study was carried out on 79 patients who were admitted to the Hematology Unit with proven GD by documented deficiency of acid β-glucosidase activity in peripheral blood leukocytes. Patients were divided into three groups Group 1: with GD type presented with symptoms and signs can include bone and organ problems, but brain development is normal, Group 2: with GD type 2, and Group 3: with GD type 3 symptoms include eye movement disorders, seizures, breathing problems, and liver and spleen enlargement. Patients were evaluated for clinical presentation especially neurological, laboratory finding and EEG finding

Results: Significant differences were noted among types of GD regarding age, sex, family history, failure to thrive, and neurological manifestations. Type 2 showed the highest frequency of seizures, motor delay, visual and bulbar dysfunction, while Type 3 demonstrated marked cognitive and academic impairments.

Conclusions: Patients with GD, especially those with type 2 and type 3, experience higher rates of neurological and psychiatric issues compared to type 1. Seizures are common in type 2 and 3, requiring antiseizure medication. While most have normal electroencephalograms (EEGs), some show epileptic activity.