Factors and HCV treatment outcomes associated with smoking among people who inject drugs on opioid agonist treatment: secondary analysis of the PREVAIL randomized clinical trial

payt.helady61 shared this article with you from Inoreader Factors and HCV treatment outcomes associated with smoking among people who inject drugs on opioid agonist treatment: secondary analysis of the PREVAIL randomized clinical trial Via BMC Infectious Diseases - Latest Articles Cigarette smoking has emerged as a leading cause of mortality among people with hepatitis C virus (HCV). People who inject drugs (PWID) represent the largest group of adults infected with HCV in the US. Howeve... View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.

High burden of viral respiratory co-infections in a cohort of children with suspected pulmonary tuberculosis

payt.helady61 shared this article with you from Inoreader High burden of viral respiratory co-infections in a cohort of children with suspected pulmonary tuberculosis Via BMC Infectious Diseases - Latest Articles The presentation of pulmonary tuberculosis (PTB) in young children is often clinically indistinguishable from other common respiratory illnesses, which are frequently infections of viral aetiology. As little i... View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.

SUCLA2 Arg407Trp mutation can cause a nonprogressive movement disorder – deafness syndrome

payt.helady61 shared this article with you from Inoreader SUCLA2 Arg407Trp mutation can cause a nonprogressive movement disorder – deafness syndrome Via Annals of Clinical and Translational Neurology Abstract SUCLA2 is a component of mitochondrial succinate‐CoA ligase and nucleotide diphosphokinase activities. Its absence results in Krebs cycle failure, mitochondrial DNA depletion, and a childhood‐fatal encephalomyopathy. We describe a purely neurologic allelic form of the disease consisting of deafness, putamenal hyperintensity on MRI and a myoclonic‐dystonic movement disorder unchanging from childhood into, so far, the late fourth decade. We show that succinate supplementation circumvents the Krebs cycle block, but does not correct the neurologic disease. Our patients' Arg407Trp mutation has been reported in children with (yet) no MRI abnormalities. It remains possible that early succinate supplementation could impact the disease. View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.

Brain volumetric deficits in MAPT mutation carriers: a multisite study

payt.helady61 shared this article with you from Inoreader Brain volumetric deficits in MAPT mutation carriers: a multisite study Via Annals of Clinical and Translational Neurology Abstract Objective MAPT mutations typically cause behavioral variant frontotemporal dementia with or without parkinsonism. Previous studies have shown that symptomatic MAPT mutation carriers have frontotemporal atrophy, yet studies have shown mixed results as to whether presymptomatic carriers have low gray matter volumes. To elucidate whether presymptomatic carriers have lower structural brain volumes within regions atrophied during the symptomatic phase, we studied a large cohort of MAPT mutation carriers using a voxelwise approach. Methods We studied 22 symptomatic carriers (age 54.7 ± 9.1, 13 female) and 43 presymptomatic carriers (age 39.2 ± 10.4, 21 female). Symptomatic carriers' clinical syndromes included: behavioral variant frontotemporal dementia (18), an amnestic dementia syndrome (2), Parkinson's disease (1), and mild cognitive impairment (1). We performed voxel‐based morphometry on T1 images and assessed brain volumetrics by clinical subgroup, age, and mutation subtype. Results Symptomatic carriers showed gray matter atrophy in bilateral frontotemporal cortex, insula, and striatum, and white matter atrophy in bilateral corpus callosum and uncinate fasciculus. Approximately 20% of presymptomatic carriers had low gray matter volumes in bilateral hippocampus, amygdala, and lateral temporal cortex. Within these regions, low gray matter volumes emerged in a subset of presymptomatic carriers as early as their thirties. Low white matter volumes arose infrequently among presymptomatic carriers. Interpretation A subset of presymptomatic MAPT mutation carriers showed low volumes in mesial temporal lobe, the region ubiquitously atrophied in all symptomatic carriers. With each decade of age, an increasing percentage of presymptomatic carriers showed low mesial temporal volume, suggestive of early neurodegeneration. View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.

Plasma phosphorylated tau181 and neurodegeneration in Alzheimer’s disease

payt.helady61 shared this article with you from Inoreader Plasma phosphorylated tau181 and neurodegeneration in Alzheimer's disease Via Annals of Clinical and Translational Neurology Abstract We examined if plasma phosphorylated tau is associated with neurodegeneration in Alzheimer's disease. We investigated 372 cognitively unimpaired participants, 554 mild cognitive impairment patients, and 141 Alzheimer's disease dementia patients. Tau phosphorylated at threonine 181, regional cortical thickness (using magnetic resonance imaging) and hypometabolism (using fluorodeoxyglucose positron emission tomography) were measured longitudinally. High plasma tau was associated with hypometabolism and cortical atrophy at baseline and over time, and longitudinally increased tau was associated with accelerated atrophy, but these associations were only observed in Aβ‐positive participants. Plasma phosphorylated tau may identify and track processes linked to neurodegeneration in Alzheimer's disease. View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.

Epilepsy risk in offspring of affected parents; a cohort study of the “maternal effect” in epilepsy

payt.helady61 shared this article with you from Inoreader Epilepsy risk in offspring of affected parents; a cohort study of the "maternal effect" in epilepsy Via Annals of Clinical and Translational Neurology Abstract Objective To assess whether the risk of epilepsy is higher in offspring of mothers with epilepsy than in offspring of fathers with epilepsy. Methods In a prospective population‐based register study, we considered all singletons born in Denmark between 1981 and 2016 (N = 1,754,742). From the Danish National Patient Register since 1977, we identified epilepsy diagnoses in all study participants and their family members. Cox regression models were used to estimate hazard ratios (HRs) and corresponding 95% confidence intervals (CI), adjusted for relevant confounders. Results We included 1,754,742 individuals contributing > 30 million person‐years of follow‐up. The incidence rate of epilepsy in offspring of unaffected parents was 78.8 (95% CI: 77.8–79.8) per 100,000 person‐years, while the corresponding rate in offspring with an affected father was 172 per 100,000 person‐years (95% CI: 156–187) and in offspring with an affected mother was 260 per 100,000 person‐years (95% CI: 243–277). Having an affected mother was associated with a 1.45‐fold (95% CI: 1.30–1.63) higher risk of epilepsy in the offspring, compared to having an affected father. This maternal effect was found both in male (HR = 1.39, 95% CI: 1.19–1.62) and female offspring (HR = 1.53, 95% CI: 1.30–1.80), and across various ages at onset in the offspring. The maternal effect was also found in familial epilepsies (i.e. where the affected parent had an affected sibling; HR = 1.50, 95% CI: 1.04−2.16). Interpretation We found a clear maternal effect on offspring risk of epilepsy in this nationwide cohort study. View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.

Triacetyluridine treats epileptic encephalopathy from CAD mutations: a case report and review

payt.helady61 shared this article with you from Inoreader Triacetyluridine treats epileptic encephalopathy from CAD mutations: a case report and review Via Annals of Clinical and Translational Neurology Abstract Refractory epilepsy and encephalopathy are frequently encountered in patients with inborn errors of metabolism. We report a case of an 8‐year‐old girl with history of developmental delay, autism and intractable epilepsy that was found to have a pathogenic variant in CAD. We briefly review the biochemical pathway of CAD and the preclinical and clinical studies that suggest uridine supplementation can rescue the CAD deficiency phenotypes. Our case demonstrates a relatively late‐onset case of refractory epilepsy with a rapid response to treatment using the uridine pro‐drug triacetyluridine (TAU), the FDA‐approved treatment for hereditary orotic aciduria. View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.