Children Prenatally Believed to have Isolated Mild Ventriculomegaly.
CONCLUSIONS: Our results show that a diagnosis of confirmed isolated mild ventriculomegaly was associated with an increased risk of neurodevelopmental disorders compared to the reference population, but the absolute risk was low and there were no cases of intellectual disability or cerebral palsy. This article is protected by copyright. All rights reserved. PMID: 30168217 [PubMed - as supplied by publisher]
Discussion Syphilis is caused by the spirochete Treponema pallidum. It is a very old disease that despite understanding the organism and readily available treatment, still causes disease. Syphilis is transmitted sexually. According to the Centers for Disease Control, “[i]n 2018, a total of 35,063 cases of [Primary and Secondary] syphilis were reported in the United States, yielding a rate of 10.8 cases per 100,000 population …. This rate represents a 14.9% increase compared with 2017 (9.4 cases per 100,000 population), and a 71.4% increase compared with 2014 (6.3 cases per 100,000 population).” The incre...
In Becker muscular dystrophy (BMD), only partially functional dystrophin is present in skeletal muscle, leading to progressive muscle weakness, fat replacement, fibre size changes, and increased membrane permeability. Diffusion tensor imaging (DTI) shows promise for studying pathology noninvasively as membrane permeability and fibre diameter can be determined using long diffusion times. Here we compare muscle diffusion properties between BMD patients and controls. We scanned 13 BMD patients age 20-59 yrs — and 9 healthy, male controls age 23-65 yrs — on a 3T MRI system.
Nemaline myopathy (NM) is a genetically and clinically heterogenous neuromuscular disorder that can cause death or lifelong disability. Essentially all genes associated with NM are related to the sarcomeric thin filament. Therefore, studies of weakness in NM have focused primarily on issues of skeletal muscle structure and contractility. However, the genetic variability seen does not explain the significant phenotypic heterogeneity observed in NM patients or mouse models, suggesting that additional factors determine disease phenotype.
The phenotypic spectrum associated with autosomal dominant SPTAN1 variants has evolved since the initial 2008 description of infantile epileptic encephalopathy due to non-truncating mutations. Loss of function variants were reported in association with a central nervous system phenotype without epilepsy in 2018, and with a juvenile onset hereditary motor neuropathy in 2019. Here we report novel SPTAN1 variants in two patients seen in our clinic. The first presented at 9 years old with a history of mild motor and cognitive delays, dysmorphic features and abnormal gait.
Myotubular myopathy (MTM) is a devastating childhood muscle disease associated with severe disabilities and early death. Maani et al (2018)., recently identified tamoxifen as a novel therapeutic candidate for MTM that improves muscle structure, strength and prolongs survival in MTM mice through modulation of dynamin-2 (DNM2), a known disease modifier. As clinical trials for tamoxifen in MTM are imminent, there remains a need for a reliable, non-invasive biomarker to reflect disease severity and treatment response, facilitating disease monitoring and testing of novel therapies.
The use of SMN replacement therapies (nusinersen and onasemnogene) is dramatically altering the natural disease history of spinal muscular atrophy (SMA). Due to maximal benefit with early treatment, the American College of Obstetrics and Gynecology (ACOG) recommended that SMA be included on universal carrier screening for all pregnant women beginning 03/2017 and was added to RUSP recommendations for newborn screening (NBS) on 07/2018. With implementation of prenatal diagnosis and NBS for SMA, the goal is earlier treatment initiation and better clinical outcomes.
In Duchenne muscular dystrophy (DMD), dystrophin is absent and muscles are progressively replaced by fat in a specific order. The reason for this is unknown. The location of dystrophin and the reduced force propagation in DMD patients suggest that architectural muscle characteristics could play a role. We used MRI datasets acquired at 3 yearly intervals and associated muscle architecture to progression of muscle fat fraction (FF), while controlling for the effect of age on disease progression. FF was obtained from 3-Point Dixon MRI scans of 22 DMD patients (age 6-16 years) in 17 leg muscles and associated with pre-defined ...
Becker muscular dystrophy (BMD) is hallmarked by clinical variability and slow but unpredictable deterioration. Biomarkers are needed that correlate with function and reliably detect disease progression within the time of a trial. We explored the feasibility of quantitative muscle MRI (qMRI) in BMD as such a biomarker. In this 2 year follow up study, 24 BMD patients were included at baseline. 3-point Dixon 3T MRI scans (23 slices of 1 cm, 0.5cm gap) were acquired of the thigh and lower leg (LL).
Quantitative ultrasound (qUS) is an objective, painless, and cost-effective modality that can distinguish healthy from damaged muscle. The cardinal feature of abnormal muscle on qUS is increased echointensity (EI). Increased EI has been demonstrated in humans with DMD and in the mdx mouse model; however, it remains to be determined if the pattern of increased EI is similar in all muscular disorders. We compared qUS images from two disease models that impact muscle in dissimilar ways: the D2-mdx mouse, a model of DMD characterized by increased fibrosis, and the db/db diabetic obese mouse, known to develop muscle atrophy and...
This study included 15 patients with LGMD2A (8 male, 7 female, 41.2 ±21.6) and 27 patients with LGMD2B (13 male, 14 female, 50.5±17.4 years) registered in IBIC (Integrative Brain Imaging Center:the database of skeletal muscle images in Japan).