Rapid resolution of concussion related symptoms in an 11-month-old male with integrative medicine assessment and treatment: Case report.

Neural therapy may have promise as a helpful, fast acting, and safe method of treating concussion symptoms.

Dystonia in RNA Polymerase III-Related Leukodystrophy.

Objectives: To identify the prevalence of dystonia in a RNA Polymerase III (POLR3)-related leukodystrophy patient cohort and to further characterize their dystonic features.

Background: POLR3-related leukodystrophy is a hypomyelinating leukodystrophy characterized by neurological and non-neurological features. Dystonia remains a challenging and under-recognized feature.

EGFR Signaling: Friend or Foe for Cartilage?

Recent studies using genetically modified mice, pharmacological approaches, and human samples have highlighted an important role for the epidermal growth factor receptor (EGFR), selected ligands, and downstream components in endochondral bone formation and joint homeostasis. Although most data demonstrate an important function of this pathway in endochondral ossification and articular cartilage growth, conflicting results on its role in osteoarthritis have been reported. In some contexts, inactivation of EGFR signaling has been shown to protect joints from surgically induced osteoarthritis, whereas in others, similar manipulations worsened joint pathology.

Differential regulation of brain-derived neurotrophic factor (BDNF) expression in sensory neuron axons by miRNA-206.

Distinct subcellular localization and subsequent translational control of 3' UTR variants of mRNA encoding brain-derived neurotrophic factor (BDNF) are critical for the development and plasticity of neurons. Although the processes that lead to preferential localization of BDNF have been well studied, it is still not clear how neurons ensure differential BDNF production in a spatial-specific manner. Here, we identified that microRNA (miRNA)-206 has the potential to specifically regulate BDNF with a long 3' UTR without affecting its short 3' UTR counterpart.

Safety, pharmacodynamics, and potential benefit of omaveloxolone in Friedreich ataxia.

Objective: Previous studies have demonstrated that suppression of Nrf2 in Friedreich ataxia tissues contributes to excess oxidative stress, mitochondrial dysfunction, and reduced ATP production. Omaveloxolone, an Nrf2 activator and NF-kB suppressor, targets dysfunctional inflammatory, metabolic, and bioenergetic pathways. The dose-ranging portion of this Phase 2 study assessed the safety, pharmacodynamics, and potential benefit of omaveloxolone in Friedreich ataxia patients (NCT02255435).

Circulating Osteonectin and Adipokine Profiles in Relation to Metabolically Healthy Obesity in Chinese Children: Findings From BCAMS.

Background The role of adipokine dysregulation in determining the metabolic fate of obesity is not well studied. We aimed to examine whether the matricellular protein osteonectin and the profiles of certain adipokines could differentiate metabolically healthy obese ( MHO ) versus metabolically unhealthy obese phenotypes in childhood. Methods and Results This study included 1137 obese children and 982 normal-weight healthy ( NWH ) controls recruited from the BCAMS (Beijing Child and Adolescent Metabolic Syndrome) study.

Parkinson's Disease Biomarkers: Where Are We and Where Do We Go Next?

Background: Objective measures of Parkinson's disease (PD) are needed for purposes of diagnosis and prognostication, as well as identification of those at risk of PD. In this qualitative review, we provide an overview of the current state of the field of PD biomarker development, delineate challenges, and discuss how the field is evolving.

Methods: A search of PubMed was conducted for articles pertaining to objective biomarkers for PD.

CHIIMP: An automated high-throughput microsatellite genotyping platform reveals greater allelic diversity in wild chimpanzees.

Short tandem repeats (STRs), also known as microsatellites, are commonly used to noninvasively genotype wild-living endangered species, including African apes. Until recently, capillary electrophoresis has been the method of choice to determine the length of polymorphic STR loci. However, this technique is labor intensive, difficult to compare across platforms, and notoriously imprecise.

Anticoagulation in atrial fibrillation with factor X deficiency-A management dilemma.

Factor X (FX) deficiency is a rare bleeding disorder. There is currently no clear guideline or recommendation for the appropriate selection of anticoagulation and management of patients with FX deficiency who require anticoagulation. We shared our experience in managing such patient, and we further discussed other possible treatment options.

CCL2 and CXCL10 are associated with poor outcome after intracerebral hemorrhage.

Objective: Intracerebral hemorrhage carries a high mortality and survivors are frequently left with significant disability. Immunological mechanisms may play an important role in hemorrhage-induced brain injury, however, research linking these mechanisms with clinical outcome remains limited. We aim to identify serum inflammatory mediators that are associated with outcome after intracerebral hemorrhage in order to translate data from experimental models to a patient cohort and identify potential targets worthy of reverse translation.

Alzheimer's genetic risk is reduced in primary age-related tauopathy: a potential model of resistance?

Objective: Nearly all adults >50 years of age have evidence for neurofibrillary tau tangles (NFTs) and a significant proportion of individuals additionally develop amyloid plaques (A) consistent with Alzheimer's disease (AD). In an effort to identify the independent genetic risk factors for NFTs and A, we investigated genotypic frequencies of AD susceptibility loci between autopsy-confirmed AD and primary age-related tauopathy (PART), a neuropathological condition defined by characteristic neurofibrillary tau tangles (NFTs) with minimal or absent A.

Methods: General linear models assessed the odds of AD ( = 1190) relative to PART ( = 376) neuropathologically confirmed cases from two independent series: the Penn Brain Bank (PENN; AD = 312; PART = 65) and National Alzheimer's Coordinating Center (NACC; AD = 878; PART = 311).

Transforming the future of health together: The Learning Health Systems Consensus Action Plan.

The Learning Health Community is an emergent global multistakeholder grassroots incipient movement bonded together by a set of consensus developed at the 2012 Learning Health System (LHS) Summit. The Learning Health Community's Second LHS Summit was convened on December 8 to 9, 2016 building upon LHS efforts taking shape in order to achieve consensus on actions that, if taken, will advance LHSs and the LHS vision from what remain appealing concepts to a working reality for improving the health of individuals and populations globally. An iterative half-year collaborative revision process following the Second LHS Summit led to the development of the .

Massive cortical reorganization is reversible following bilateral transplants of the hands: evidence from the first successful bilateral pediatric hand transplant patient.

In this repeated measures case study, we show that sensory deafferentation after limb amputation leads to changes in cortical somatotopic maps which are reversible after restoration of sensory input. Using magnetoencephalography (MEG), we observed in a child with bilateral hand transplants large-scale shifts in somatosensory lip cortical representation from anatomic hand area to anatomic face region. After recovery of tactile sensation in the digits, responses to finger stimulation were localized to orthotopic sensory cortex, but with atypical electrophysiologic features (amplitude and frequencies).

Weight loss and frequency of body-weight self-monitoring in an online commercial weight management program with and without a cellular-connected 'smart' scale: a randomized pilot study.

Objective: Evaluate the effects of an online commercial weight management program, with and without provision of a 'smart' scale with instructions to weigh daily and weekly tailored feedback, on weight loss and the frequency of body-weight self-monitoring.

Methods: Participants (N = 92; body mass index 27-40 kg/m) were randomized to 6 months of no-cost access to the Weight Watchers Online (WWO) platform alone, or enhanced with a cellular-connected 'smart' scale, instructions to weigh daily and weekly pre-scripted email feedback (Weight Watchers Online Enhanced [WWO-E]). The number of days that weight was self-monitored (via 'smart' scale in WWO-E and manually in WWO) was recorded automatically across the 6-month trial.