Background: Guanidinoacetate methyltransferase deficiency (GAMT) is an autosomal recessive inborn error of metabolism. A condition that results from a pathogenic variant in the GAMT gene that maps to 19p13.3. The prevalence can be estimated to be up to 1:2,640,000 cases; countries such as Saudi Arabia could have a higher prevalence due to high consanguinity rates. The clinical manifestations that a patient could obtain are broad and start to manifest in the patients’ early childhood years. Materials and Methods: A thorough review of case reports in January 2022 was conducted. The retrieved literature was screened for demographic data. Patients of all ages were included. Qualitative variables were described as number and percentage (%), and quantitative data were described by the mean and standard deviation. In bivariate data, Chi-square test (χ2) was used and t-test for nonparametric variables. Results: Gender distribution was 53% of males and 47% females. Reported age ranged from 8 to 31 months. At the age of onset, 50% of the cases were infants, 28% were toddlers, and 15% were children, concluding that 79% of the reported cases developed symptoms before 5 years old. 68% of the cases developed generalized seizures throughout their life. 84% of the cases expressed a form of developmental delay. 43% of the cases had intellectual disabilities and mental retardation that affected their learning process; most cases required special care. 23% of the affected cases were of consanguineous marriages, and 7% had affected relatives. Conclusion: We described four novel case reports, the first to be reported in Saudi Arabia. Seizure was a leading finding in the majority of the cases. Developmental delay was broadly observed. Intellectual delay and language impairments are primary hallmarks. Further understanding and early diagnosis are recommended. Premarital testing of neurogenetic diseases using whole-exome sequencing is probably a future direction, especially in populations with high consanguinity rates.
Apraxia of eyelid closure (AEC) is a rare disorder characterized by the inability to close the eyes on command with the preservation of the motor and sensory systems, coordination, comprehension, and cooperation. The prevalence of AEC is extremely small and the exact pathophysiological mechanisms underlying this condition remain unknown. It is, however, associated with extrapyramidal disorders. Very few cases of bilateral AEC have been reported. We report a case of an 81-year-old male patient having multiple comorbidities including neurological, respiratory, and abnormalities complicated by COVID-19 infection, who developed AEC that was noticed by the caregiver. We illustrate the clinical course leading to the diagnosis of bilateral AEC and highlight the important role of the caregiver in reporting subtle signs such as AEC.
Background: Cadmium (Cd) is a widely spread environmental pollutant, listed among the unsafe metals due to known toxic effects on multiple organs, including the testes. In this study, we aim to evaluate the potential protectivity of garlic and ginger extracts on Cd-induced damage of the testis in rats. Materials and Methods: Fifty-six adult male albino rats were alienated into seven groups; control group, garlic-treated group, and ginger-treated group were given garlic and ginger extracts at doses of 250 mg and 120 mg/kg b.wt/day, Cd-treated group received 8.8 mg/Kg b.wt/day of Cd chloride, and the protected groups were given Cd and co-treated with garlic, ginger, or both extracts. The testes were subjected to different procedures to assess the oxidative status and histopathological changes. Results: Cd-treated rats showed a significant reduction in the testis weight and morphometric measurements of the seminiferous tubules compared to the control group. Cd administration resulted in a marked drop in the testosterone level and activities of antioxidative enzymes. Moreover, Cd induced histopathological changes in the seminiferous tubules. Co-administration of garlic and ginger extracts with the Cd showed partial improvement in the investigated parameters toward the control figures and improvement in the morphological changes. Co-treating both extracts together and the Cd resulted in complete normalization of these adverse effects of Cd. Conclusion: These findings indicated that garlic and ginger extracts could ameliorate the harmful effects of Cd on the testis. This effect was more prominent when garlic and ginger extracts were co-administered together with Cd.
Background: The meniscal cartilages are fibrous discs that are important for knee structures and have the ability to bear weight and stabilize joints. However, morphological and standard data for the meniscus are limited. Therefore, this work will compare anatomical and histological parameters of meniscal cartilages. The results will be important for the different measurements that are necessary for knee joint surgery. Materials and Methods: A total of 24 aged cadavers (12 males and 12 females) were included. Knee joints were dissected and the menisci were excised and labeled as medial or lateral, right or left, male or female. Then, the menisci were kept in 10% formalin solution. Morphological variations of the meniscal shapes were macroscopically categorized. Different measurements, including the distance between anterior and posterior horns, outer and inner circumferences, width (breadth), and thickness, were done using a digital Vernier caliper and recorded manually. Results: 48 medial menisci (MMi) cartilages were studied, they were 54.6% crescent-shaped, 34.6% V-shaped, and 10.8% U-shaped. 48 lateral menisci (LMi) cartilages were studied, 41.6% were crescent-shaped, 56.4% were C-shaped, and 2% were disc-shaped articular cartilage. Findings included differences in their lengths and thickness. Conclusion: The findings of this study were significant in providing new information on various morphological and morphometric parameters of the MMi and LMi in aged males and females, which are necessary to require more precise and comprehensive fundamental data that will be helpful for many specialists for better diagnostic and therapeutic approaches; aiming to restore normal joint conditions in senile people complaining of different meniscal pathologies.
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