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Clin. Transl. Neurosci., Volume 8, Issue 4 (December 2024) – 2 articles

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11 pages, 2739 KiB  
Article
Clinical and Video-Oculographic Characteristics of Spinocerebellar Ataxia Type 27B (GAA-FGF14 Ataxia): A Single-Center Retrospective Study
by Evgenii Nuzhnyi, Natalia Abramycheva, Arina Protsenko, Alexandra Belyakova-Bodina, Ekaterina Larina, Ekaterina Fedotova, Sergey Klyushnikov and Sergey Illarioshkin
Clin. Transl. Neurosci. 2024, 8(4), 29; https://doi.org/10.3390/ctn8040029 - 8 Oct 2024
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Abstract
An intronic GAA repeat expansion in the FGF14 gene was recently identified as a common cause of autosomal dominant GAA-FGF14 ataxia (SCA27B). We aimed to characterize in detail the clinical and video-oculographic features in our cohort of SCA27B patients. We genotyped the [...] Read more.
An intronic GAA repeat expansion in the FGF14 gene was recently identified as a common cause of autosomal dominant GAA-FGF14 ataxia (SCA27B). We aimed to characterize in detail the clinical and video-oculographic features in our cohort of SCA27B patients. We genotyped the FGF14 GAA repeat expansion in 52 patients with unsolved late-onset cerebellar ataxia. Brain MRI and nerve conduction study, as well as video-oculographic (VOG) assessment, were performed. Eight patients (15.4%) with pathogenic GAA repeat expansion in the FGF14 gene were found. The median age at onset was 51 years (range—23–63 years). Sensory axonal neuropathy was found in 5/8 patients. Cerebellar atrophy was observed in 5/8 patients, and in one case, pontocerebellar atrophy was found. All tested patients had impaired smooth pursuit, 5/6 patients had impaired vestibulo-ocular reflex suppression, nystagmus, and an increased number of square wave jerks, 4/6 patients had horizontal gaze-evoked nystagmus, 3/6 had spontaneous downbeat nystagmus, and 1/6 had an upbeat one. Video head impulse test gain was lower than 0.8 on both sides in 2/4 patients, along with the presence of overt saccades. Further studies in different cohorts are needed to complete the phenotype of the FGF14-related disorders. Full article
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12 pages, 475 KiB  
Article
Assessment of Nurses’ Knowledge of the Glasgow Coma Scale in a Saudi Tertiary Care Hospital: A Cross-Sectional Study
by Roaa Alsharif, Salsabil Abo Al-Azayem, Nimah Alsomali, Wjoud Alsaeed, Nawal Alshammari, Abdulaziz Alwatban, Yaseen Alrabae, Razan Orfali, Faisal Alqarni and Ahmad Alrasheedi
Clin. Transl. Neurosci. 2024, 8(4), 28; https://doi.org/10.3390/ctn8040028 - 26 Sep 2024
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Abstract
The Glasgow Coma Scale (GCS) is essential for assessing traumatic brain injury and predicting patient outcomes, yet studies indicate that nurses often have only a basic understanding of the GCS. In Saudi Arabia, research on this topic is limited, suggesting a need for [...] Read more.
The Glasgow Coma Scale (GCS) is essential for assessing traumatic brain injury and predicting patient outcomes, yet studies indicate that nurses often have only a basic understanding of the GCS. In Saudi Arabia, research on this topic is limited, suggesting a need for improvement in nurses’ GCS knowledge. This study aimed to evaluate the knowledge and proficiency of 199 staff nurses at King Fahd Medical City in Riyadh, Saudi Arabia, regarding GCS usage and to identify the factors impacting their competence. A descriptive, cross-sectional survey was conducted, and the data were analyzed using SPSS version 23.0. The results showed that 81.4% of nurses had an average level of GCS knowledge, with a mean score of 8.8 ± 1.826. Only 13.6% demonstrated good knowledge, while 5% had poor knowledge. A significant correlation was found between GCS knowledge and nurses’ departments (χ2(2) = 19.184, p < 0.001). The study concludes that GCS knowledge among nurses in this Saudi Arabian center is moderate, highlighting the need for continuous education programs to enhance their competence in GCS assessment. Full article
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