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MASA syndrome (OMIM 303350) is a rare X-linked recessive neurologic disorder, also called CRASH syndrome, spastic paraplegia 1 and Gareis-Mason syndrome. The acronym MASA describes four major signs: Mental retardation, Aphasia, Shuffling gait and Adducted thumbs. A more suitable name for this syndrome is L1 syndrome because the disorder has been associated with mutations in the neuronal cell adhesion molecule L1 (L1CAM) gene. The syndrome has severe symptoms in males, while females are carriers because only one X chromosome is affected. The aim of this report is to show similarities and differences in clinical manifestations between twins with the L1CAM gene mutation and to emphasize the importance of genetic counseling. Our patients were dizygotic twins born prematurely at 35 weeks of gestation. Pregnancy was complicated with early bleeding and gestational diabetes. Immediately after birth, hypertonia of lower extremities was observed in both twins. Sixteen-year clinical follow up showed spastic paraparetic form with Shuffling gait, clumsiness, delayed speech development, lower intellectual functioning at the level of mild to moderate mental retardation, primary nocturnal enuresis, behavioral and sleep disorder (more pronounced in the second twin). Magnetic resonance imaging of the brain showed complete agenesis of the corpus callosum, complete lack of the anterior commissure, and internal hydrocephalus. Electroencephalograms showed nonspecific slower dysrhythmic changes. Kidney ultrasound showed mild dilatation in the channel system of both kidneys in both twins. Ophthalmologic examination was normal. Molecular genetic testing identified homozygous intron 26 L1CAM gene IVS26-12 G → A mutation in both twins. The mother is carrier of the same heterozygous mutations. In conclusion, our patients, fraternal twins, show similar clinical changes typical of the MASA syndrome. After identifying the specific genetic mutations, this family has become eligible for genetic counseling and informative for prenatal diagnosis. [ABSTRACT FROM AUTHOR]

Background: Effects of resistance training on muscle strength and hypertrophy are well established in adults and younger elderly. However, less is currently known about these effects in the very elderly (i.e., 75 years of age and older). Objective: To examine the effects of resistance training on muscle size and strength in very elderly individuals. Methods: Randomized controlled studies that explored the effects of resistance training in very elderly on muscle strength, handgrip strength, whole-muscle hypertrophy, and/or muscle fiber hypertrophy were included in the review. Meta-analyses of effect sizes (ESs) were used to analyze the data. Results: Twenty-two studies were included in the review. The meta-analysis found a significant effect of resistance training on muscle strength in the very elderly [difference in ES = 0.97; 95% confidence interval (CI) 0.50, 1.44; p = 0.001]. In a subgroup analysis that included only the oldest-old participants (80 + years of age), there was a significant effect of resistance training on muscle strength (difference in ES = 1.28; 95% CI 0.28, 2.29; p = 0.020). For handgrip strength, we found no significant difference between resistance training and control groups (difference in ES = 0.26; 95% CI − 0.02, 0.54; p = 0.064). For whole-muscle hypertrophy, there was a significant effect of resistance training in the very elderly (difference in ES = 0 30; 95% CI 0.10, 0.50; p = 0.013). We found no significant difference in muscle fiber hypertrophy between resistance training and control groups (difference in ES = 0.33; 95% CI − 0.67, 1.33; p = 0.266). There were minimal reports of adverse events associated with the training programs in the included studies. Conclusions: We found that very elderly can increase muscle strength and muscle size by participating in resistance training programs. Resistance training was found to be an effective way to improve muscle strength even among the oldest-old. [ABSTRACT FROM AUTHOR]

Background: Currently, there are inconsistencies in the body of evidence for the effects of resistance and aerobic training on skeletal muscle hypertrophy.Objective: We aimed to systematically review and meta-analyze current evidence on the differences in hypertrophic adaptation to aerobic and resistance training, and to discuss potential reasons for the disparities noted in the literature.Methods: The PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-Analyses) guidelines were followed for this review. The Downs and Black checklist was used for the assessment of methodological quality of the included studies. A random-effects meta-analysis was employed. In total, three analyses were performed: (1) for whole-muscle knee extensor data; (2) for type I fiber cross-sectional area; and (3) for type II fiber cross-sectional area.Results: The final number of included studies in the present review is 21. All studies were of good or moderate methodological quality. The meta-analysis for whole-muscle hypertrophy resulted in a significant pooled difference (p < 0.001) in responses between the aerobic training and resistance training interventions. The pooled Hedge's g, favoring resistance over aerobic training, was 0.66 (95% confidence interval 0.41-90; I2 = 0%). The meta-analysis for type I fiber cross-sectional area data resulted in a significant pooled difference (p < 0.001) between the aerobic training and resistance training groups. The pooled Hedge's g, favoring resistance training over aerobic training, was 0.99 (95% confidence interval 0.44-1.54; I2 = 24%). The meta-analysis of type II fiber cross-sectional area data resulted in a significant pooled difference (p < 0.001) between the aerobic training and resistance training groups. The pooled Hedge's g, favoring resistance training over aerobic training, was 1.44 (95% confidence interval 0.93-1.95; I2 = 8%).Conclusions: The results of this systematic review and meta-analysis suggest that single-mode aerobic training does not promote the same skeletal muscle hypertrophy as resistance training. This finding was consistent with measurements of muscle hypertrophy both at the whole-muscle and myofiber levels. While these results are specific to the knee extensor musculature, it can be hypothesized that similar results would be seen for other muscle groups as well. [ABSTRACT FROM AUTHOR]

Aim To determine the prevalence, number, and location of multiple (⩾2) T2-hyperintensities on brain magnetic resonance imaging (MRI) in children with neurofibromatosis type 1 (NF1) and their correlation with age, and to establish their sensitivity, specificity, and accuracy for the diagnosis of NF1 in children, especially in the early age (2-7 years). Methods We performed a cross-sectional study of 162 patients with NF1 from Croatian Neurofibromatosis Association Database and 163 control children between the ages of 2 and 18 years who underwent brain MRI between 1989 and 2009. Results Multiple T2-hyperintensities were present in 74% of NF1 patients and 1.8% of controls. They were mainly located in the basal ganglia, brainstem, and cerebellum and were significantly decreased in prevalence and number in the older age. T2-hyperintensities had excellent diagnostic accuracy with the area under the receiver operating characteristic (ROC) curve of 0.849 and 95% confidence interval (CI) of 0.805-0.886. The diagnostic sensitivity, specificity, and accuracy rate of T2-hyperintensities for NF1 were highest in the youngest age (2-7 years): 81% (95% CI 71%-89.1%), 99% (95% CI 92.3%-100%), and 85.8 (95% CI 83.3-93.8), respectively. Conclusion This study strongly suggests the inclusion of T2-hyperintensities on brain MRI on the list of diagnostic criteria for NF1, especially in children of early age, when the clinical penetration of the NF1 gene has not yet been completely finished. [ABSTRACT FROM AUTHOR]