Publications by authors named "Timothy J Feyma"
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- A study evaluated the occurrence of rebleeding in children with abusive subdural hemorrhages (SDH) following abusive head trauma (AHT), finding that 63.5% of those reimaged experienced rebleeding without new trauma or symptoms.
- Factors linked to rebleeding included macrocephaly, greater subdural depth, ventriculomegaly, and brain atrophy, while initial injury severity and impact injuries did not show a connection to rebleeding.
- Rebleeding typically occurred within the first 12 weeks post-injury and was confined to chronic SDHs; no new bridging vein ruptures were noted, and all affected children remained neurologically
Background: Immune dysregulation may play a role in the development of Rett syndrome (RTT), a neurodevelopmental disorder caused by mutations of the MECP2 gene. Abnormal cytokine concentrations have been documented in the serum of individuals with RTT. Measurement of salivary cytokines has been investigated as a potential alternative approach to measurement in blood and serum, but it is unclear whether salivary cytokine concentrations can provide valid information about systemic immune function in neurodevelopmental disorders.
View Article and Find Full Text PDFPatients with dystonia are particularly appropriate for diagnostic exome sequencing (DES), due to the complex, diverse features and genetic heterogeneity. Personal and family history data were collected from test requisition forms and medical records from 189 patients with reported dystonia and available family members received for clinical DES. Of them, 20.
View Article and Find Full Text PDFPatients with Rett syndrome may manifest altered pain perception/experience and are vulnerable to conditions associated with chronic pain. Pain response is difficult to measure, however, because of severe communicative impairment. There is also documented autonomic dysfunction, including decreased heart rate variability.
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- Rett syndrome (RTT) is a rare disorder mainly affecting females, typically linked to mutations in the MECP2 gene, with notable issues in sensory function.
- A study involving skin biopsies from adolescent RTT patients compared to healthy controls showed higher densities of certain nerve fibers associated with sensory functions in RTT patients.
- These findings suggest that the abnormal sensory issues seen in RTT might be related to changes in nerve innervation, prompting the need for deeper exploration of the disorder's neurobiology.
Article Synopsis
- Rett syndrome (RTT) is primarily linked to mutations in the MECP2 gene, and caregivers of those with RTT frequently report sleep issues.
- In a study involving 13 girls with RTT, researchers used actigraphy and parent sleep diaries to collect data on sleep duration and quality over a week.
- Findings indicated variability in sleep patterns, with actigraphy data showing around 8 hours of sleep on average, while parental reports suggested slightly more; some participants displayed signs of sleep disorders based on sleep habit evaluations.
Data were collected parenting stress, adaptive behavior, pain, and health issues from the caregivers of 35 girls and women with Rett syndrome (mean age = 20.3). A majority (60%) of parents reported stress in the clinical range on at least 1 subscale of the Parenting Stress Index-Short Form.
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