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Showing posts from March, 2019

Teenage psychotic experiences more common in areas with high air pollution

Exposure to nitrogen dioxide and nitrogen oxides through air pollution is linked to an increased risk of experiencing psychotic symptoms in teenagers. Accounting for other known risk factors, exposure to both NO2 and NOx accounted for 60% of the link between symptoms of psychosis and living in an urban environment. from Neuroscience News Updates https://ift.tt/2uChgkz

New glioblastoma vaccine shows promising results in phase Ib clinical trial

A new vaccine for glioblastoma brain cancer suspends tumor growth and is well tolerated by patients, according to the results of an early phase clinical trial. from Neuroscience News Updates https://ift.tt/2I1NIop

Scientists find brain mechanism that naturally combats overeating

Hippocampal dopamine 2 receptors, cells known to play a role in regulating memory, help curb the impulse to overeat. from Neuroscience News Updates https://ift.tt/2JSkCKF

April Fools hoax stories could offer clues to help identify ‘fake news’

A machine learning classifier identified, with over 65% accuracy, April Fools hoaxes and fake news stories. Based on the findings, researchers present guidelines for recognizing April Fools hoaxes and fake news stories in the media. from Neuroscience News Updates https://ift.tt/2HQW5Eb

Gastrointestinal complaints in children could signal future mental health problem

A correlation between gastrointestinal symptoms, adversity and childhood anxiety has been identified by researchers at Columbia University. Studying fMRI data and fecal samples, researchers noted adversity was associated with microbial diversity changes and differences prefrontal cortex activation in response to emotional faces. from Neuroscience News Updates https://ift.tt/2WD4xdE

Cannabis during pregnancy bumps psychosis risk in offspring

Cannabis consumption during pregnancy is associated with a slightly increased risk of a child developing psychosis at age ten. The findings also shed new light on the role endocannabinoids play in neurodevelopment. from Neuroscience News Updates https://ift.tt/2YDAQLi

30 Genes Associated with Schizophrenia Identified

A new phenotype atlas assisted researchers in identifying 30 genes associated with an increased risk of developing schizophrenia. Single-cell RNA sequencing revealed an essential role for the transcription factor znf536 in the development of forebrain neurons associated with social behavior and stress. from Neuroscience News Updates https://ift.tt/2TO5duV

Allergic reactions play role in sexual behavior development in unborn males/females

Exposure to allergic inflammation, while in utero, increased mast cell and microglia activation, leading to masculinization of dendritic spine density in the preoptic area of females. During adulthood, females exposed to allergic inflammation showed an increase in more masculine behaviors. from Neuroscience News Updates https://ift.tt/2TNYfG6

Virtual reality could be used to treat autism, schizophrenia and Parkinson’s

Virtual reality can help recalibrate time perception and sensorimotor actions. Researchers believe the technology could help in the treatment of ASD, Parkinson's disease and schizophrenia. from Neuroscience News Updates https://ift.tt/2YBaJEA

Novel study links fetal exposure to nicotine and sudden infant death syndrome

In utero exposure to nicotine could increase the risk of sudden infant death syndrome, researchers report. The findings raise concerns about both smoking and the use of nicotine replacement therapies during pregnancy. from Neuroscience News Updates https://ift.tt/2TO3Xbb

Pairing music with medication offers potential therapeutic strategy to manage pain

Classical music exposure paired with ibuprofen reduced response to inflammation pain by 93%, compared to exposure to the medication alone in mouse models of pain. For those exposed to just music, researchers report a 77% reduction in surgical pain. from Neuroscience News Updates https://ift.tt/2FJmfFp

Eating Red and Processed Meats, Even in Small Amounts, May Increase Death Risk

Combined total intake of both red and processed meat is associated with an increased risk of cardiovascular disease deaths. from Neuroscience News Updates https://ift.tt/2THLBbK

Maternal diet during pregnancy may modulate the risk of ADHD symptoms in children

The risk of a child being diagnosed with ADHD may be modulated by the mother's diet while pregnant. Analyzing umbilical cord samples, researchers discovered a higher omega-6:omega-3 ratio was associated with an increased risk of ADHD in children during mid-childhood. from Neuroscience News Updates https://ift.tt/2U5sIV3

Artificial intelligence can predict premature death

Machine learning significantly improves the accuracy of predicting premature deaths, from all causes, in a middle-aged population compared with more traditional models. from Neuroscience News Updates https://ift.tt/2FIdXxx

Researchers Discover a Critical Receptor Involved in the Response to Fast-Acting Antidepressants Like Ketamine

The mGlu2 receptor plays a critical role in the effectiveness of ketamine for treating depression. from Neuroscience News Updates https://ift.tt/2UddhJV

Had Enough Water? Brain’s Thirst Centers Make a Gut Check

Hydration signals from the gut travel via the vagus nerve to activate thirst neurons in the SFO. These neurons signal to cells in the median preoptic nucleus, driving animals to drink and the kidneys to conserve water in the bloodstream. from Neuroscience News Updates https://ift.tt/2JSTyv2

Caffeine on the mind? Just seeing reminders of coffee can stimulate our brain

Exposure to subtle cues associated with coffee influence arousal and alertness. from Neuroscience News Updates https://ift.tt/2JQNwuU

Woman with novel gene mutation lives almost pain-free

A rare genetic mutation has been associated with pain insensitivity. The findings could further research into new treatments to target pain. from Neuroscience News Updates https://ift.tt/2UhSzsd

Accurate etiology diagnosis in patients with stroke and atrial fibrillation: A role for brain natriuretic peptide

Atrial fibrillation (AF) is the leading cause of cardioembolic stroke (CES), and patients with stroke and AF are frequently assumed to have CES. However, strokes presumably due to atherosclerotic pathophysiologies in large or small vessels can also occur in patients with AF. The aims of the present study were to clarify the prevalence of and factors related to a non-cardioembolic etiology in acute stroke patients with AF. from Journal of the Neurological Sciences https://ift.tt/2JRn7wV

Induction of apoptosis in CD4(+) T-cells is linked with optimal treatment response in patients with relapsing-remitting multiple sclerosis treated with Glatiramer acetate

Induction of T-cell apoptosis constitutes a mechanism of action for Glatiramer Acetate (GA). We investigated whether activation of apoptotic T-cell death may be indicative of optimal treatment response in patients with relapsing-remitting Multiple Sclerosis (RRMS), with respect to radiological activity. from Journal of the Neurological Sciences https://ift.tt/2Ud8TdO

A unique Japanese CPEO family with a novel homozygous m.14819 T > G (p. S25A) substitution

Chronic progressive external ophthalmoplegia (CPEO), which is an inherited mitochondrial disease associated with the mutation or deletion of mitochondrial DNA (mtDNA), is induced by nuclear DNA mutations in the DNA polymerase gamma (POLG) gene [1], but is rarely induced by mtDNA mutations. Here we report a unique Japanese CPEO family with a novel homozygous m.14819 T > G (p. S25A) substitution accompanied by an mtDNA deletion (m.8483₋13,459, del 4977), showing bilateral ptosis and muscle weakness in the proband and the proband's mother, but not in the brother. from Journal of the Neurological Sciences https://ift.tt/2JRn3gF

Absence of gut microbiota during early life affects anxiolytic Behaviors and monoamine neurotransmitters system in the hippocampal of mice

The gut microbiome is composed of an enormous number of microorganisms, generally regarded as commensal bacteria. Resident gut bacteria are an important contributor to health and significant evidence suggests that the presence of healthy and diverse gut microbiota is important for normal cognitive and emotional processing. Here we measured the expression of monoamine neurotransmitter-related genes in the hippocampus of germ-free (GF) mice and specific-pathogen-free (SPF) mice to explore the effect of gut microbiota on hippocampal monoamine functioning. from Journal of the Neurological Sciences https://ift.tt/2JLVFAC

The Sub-Saharan Africa Conference on Stroke (SSACS): An idea whose time has come

Stroke is a leading cause of global morbidity and mortality. Sub-Saharan Africa (SSA), where an unprecedented rise in stroke burden is currently raging, has the highest age-standardized stroke incidence, stroke prevalence, and stroke mortality rates. This is in sharp contrast to the relative decline in stroke incidence in high-income countries over the past four decades through better awareness and control of vascular risk factors. Compared to other groups, Africans tend to have a higher risk of stroke, higher percentage of the hemorrhagic type and much poorer outcomes. from Journal of the Neurological Sciences https://ift.tt/2Ui2Bth

Researchers discover two, rare genes associated with Alzheimer’s disease

Two rare genetic variants on the NOTCH3 and TREM2 genes have been identified in some Alzheimer's patients. from Neuroscience News Updates https://ift.tt/2uF53vn

Baseball Season has begun…

Here are some of UF Neuroscience’s Heavy Hitters as featured on the cover of the latest edition of Florida GATOR Magazine! The Brain’s A-Team:  When it comes to brain research, UF scientists are the top of their game.  Meet a few of the Heavy Hitters in Neuroscience. Diseases of the brain steal: Some steal balance, others memory; some take away the ability to walk, even speak. Some result in a decline that’s long and gradual, or heartbreakingly fast. Each condition is devastating in its own way for those afflicted and for all the people who love them. Dementia, brain cancer, Parkinson’s disease, ALS, stroke, dystonia, addiction and the typical cognitive declines that often come with aging are just a few of the threats to the brain. While to date neuroscience has revealed a great deal about how the brain works, it remains a mysterious frontier. BY MICHELLE KOIDIN JAFFEE PHOTOGRAPHY BY AARON DAYE from Department of Neurology https://ift.tt/2WrOi2K

Deep Brain Stimulation for Obesity: A Review and Future Directions

Congratulations Dr. Okun on the publication of “ Deep Brain Stimulation for Obesity: A Review and Future Directions ,” in the current issue of Frontiers in Neuroscience.   The global prevalence of obesity has been steadily increasing. Although pharmacotherapy and bariatric surgeries can be useful adjuvants in the treatment of morbid obesity, they may lose long-term effectiveness. Obesity develops result from unbalanced energy homeostasis. Palatable and densely caloric foods may affect the brain overlapped circuits involved with homeostatic hypothalamus and hedonic feeding. Deep Brain Stimulation (DBS) consists of delivering electrical impulses to specific brain targets to modulate a disturbed neuronal network. In selected patients, DBS has been shown to be safe and effective for movement disorders. We review all the cases reports and series of patients treated with DBS for obesity using a PubMed search and will address the following obesity-related issues: i) the hypothalamic reg...

On Our Nightstands: March 2019

At Public Books , our editorial staff and contributors are hard at work to provide readers with thought-provoking articles. But when the workday is done, what is ... The post On Our Nightstands: March 2019 appeared first on Public Books . from Public Books https://ift.tt/2JPl9NH

New pattern of brain ageing identified

New patterns of brain ageing across the human lifespan have been revealed by researchers analysing microstructural changes in the brain’s white matter. from Neuroscience News Updates https://ift.tt/2HYwfNE

A simple strategy to improve your mood in 12 minutes: Journal of Happiness Studies

Contemplating loving-kindness reduces anxiety while increasing happiness, empathy and feelings of social connection, a new study reports. from Neuroscience News Updates https://ift.tt/2Ucpxu9

Hyperglycemia induces mechanical hyperalgesia and depolarization of the resting membrane potential of primary nociceptive neurons: Role of ATP-sensitive potassium channels

Cumulating data suggests that ion channel alterations in nociceptive neurons might be involved in the development of diabetic painful neuropathy. In the present study we investigated the involvement of ATP-sensitive potassium (K+ATP) channels in the acute effect of high glucose solution in vitro and in vivo. High glucose concentrations depolarized cultured nociceptive neurons and depolarization was blocked by the K+ATP opener, diazoxide or by insulin. Glucose injection at the rat dorsal root ganglia (L5) resulted in acute mechanical hyperalgesia that was blocked by diazoxide. from Journal of the Neurological Sciences https://ift.tt/2FzghqE

Single Population of Stem Cells Contributes to Lifelong Hippocampal Neurogenesis: Mouse Study

The findings support a continuous model of neurogenesis throughout development and adulthood. from Neuroscience News Updates https://ift.tt/2Ucnh69

Winter 2019 Highlights: Adding Revenue to Your Practice

This winter we shared so many posts it was hard to pick just five highlights. We had posts on dementia screening , glioblastoma immunotherapy , precision medicine , and more. A theme did emerge, though, after an editorial in JAMA came out in January on marketing and medicine. If you are looking to grow your practice, take a look at our 2018 and 2019 winter posts on building up your referral base and delving into content marketing. Enjoy! POST #1 Building a Good Relationship with Electrodiagnostic Referrers (Part One) When Shawn Jorgensen, MD, and his brother joined their small private PM & R practice in upstate New York, they had no established referral base for electrodiagnostic (EDX) testing. So they got to work and developed specific strategies that have led to their success in building their EDX practice. They did this by aligning their electrodiagnostic practice with the needs of patients and referring providers. Key elements of this include staff buy in, prioritizing av...

Quick thinking? It’s all down to timing

A pairing of presynaptic and postsynaptic activity in a population of hippocampal neurons can reduce the required number of synaptic plasticity evoking events. When spikes occur within ten milliseconds of each other, synapses strengthen for up to four hours. from Neuroscience News Updates https://ift.tt/2FFfSUQ

Motor neuron disease as a treatment responsive paraneoplastic neurological syndrome in patient with small cell lung cancer, anti-Hu antibodies and limbic encephalitis

Non-classical paraneoplastic neurological syndrome (PNS) may be identified and classified as “definite” and “probable” according to the antineuronal antibodies status and the presence or absence of an associated cancer [1]. Paraneoplastic motor neuron disease (PMND) is a rare, potentially treatable, non-classical PNS that may be undistinguishable from sporadic motor neuron disease (MND) [2]. from Journal of the Neurological Sciences https://ift.tt/2YwuugK

People ‘hear’ flashes due to disinhibited flow of signals around the brain

The synesthesia effect of being able to 'hear' silent movements may depend upon disinhibition of signaling between the visual and auditory brain regions. The study found musicians are more likely to experience the 'visual ear' phenomena than those with no musical training. from Neuroscience News Updates https://ift.tt/2HKmljg

Conversion of Graded Presynaptic Climbing Fiber Activity into Graded Postsynaptic Ca2+ Signals by Purkinje Cell Dendrites

Gaffield et al. find that sensory stimuli enhance climbing fiber responsiveness, leading to larger Purkinje cell Ca2+ events. This integrative process is unaffected by local neural circuits, indicating the primacy of the inferior olive in instructional signaling. from journals https://ift.tt/2JLx5Qk

Opportunity to Attend a Hands-on Clinical fMRI and Diffusion Tractography Course: May 2019

Conference Dates: May 28-30, 2019 Credits: 23.5 CME and 3 SAM credits Course Director: Andrei I. Holodny, MD Conference Location: Belfer Research Building Weill Medical College of Cornell University 69th Street and York Avenue New York, NY 10065 Course Overview During most MRI procedures, there is no need for interaction between the administrator of the test and the patient. The situation is quite the opposite in functional MRI (fMRI), where the neurological status of the patient must be assessed; an appropriate paradigm must be selected based on the neurological assessment and prior MRI examinations. Further, the paradigm must be delivered to and successfully performed by the patient while in the MRI machine. In addition, there is a rather complicated analysis of the fMRI and diffusion tractography data, which must be performed and assessed. How to properly perform these tasks is often not addressed during residency and fellowship training or in annual scientific society...

San Francisco; or, How to Destroy a City

As New York City and Greater Washington, DC, prepared for the arrival of Amazon’s new secondary headquarters, Torontonians opened a section of their waterfront to Alphabet’s Sidewalk Labs, which plans to prototype a new neighborhood “from the internet up.” Fervent resistance arose in all three locations, particularly as citizens and even some elected officials discovered that many of the terms of... The post San Francisco; or, How to Destroy a City appeared first on Public Books . from Public Books https://ift.tt/2TG9i4h

Trained musicians perform better at paying attention

Musical training improves the ability to tune out distractions, and the more training, the better the control. from Neuroscience News Updates https://ift.tt/2V1EAnG

Location and Plasticity of the Sodium Spike Initiation Zone in Nociceptive Terminals In Vivo

Goldstein et al. describe the location of the sodium spike initiation zone (Nav-SIZ) in nociceptive peripheral terminals in vivo and show that this location is dynamic. During inflammation, the location of Nav-SIZ shifts toward the terminal end, hence increasing nociceptive excitability from journals https://ift.tt/2HWkl6X
 Sometimes in  dreamland of a neurologist  How good it would have been if there existed a common unifying etiopathologic theory  for  different neurological disorders. Common involvement among them appears to be of neuroplasticity and glial cells. How neuroplasticity ? ..Neurons discharge in synaptic cleft   >This stimulates adjacent glial (e.g.asrocyte) cell   >Glial cell response may  be anatomical or biochemical change (syneptogenesis,synaptic modulation,synaptic extinction) with increase or  decrease  in synthesis of neurohumoral molecules   > Networks developed or deleted   > New networks established  as the result of deletion or formation of synapses   >These networks comprise of excitable neurons and associated  non excitable glial cells . Now this newly formed succeptible system will stimulate or depress or destroy neurons to cause...

Differences in the intra-cerebellar connections and graph theoretical measures between Parkinson's disease and multiple system atrophy

Parkinson's disease (PD) does not present with motor symptoms until dopaminergic neuronal loss exceeds 50%. This might indicate that a network-level compensatory mechanism involving surviving regions in PD acts to reduce brain abnormalities. In contrast, there is no evidence of a compensatory mechanism in multiple system atrophy (MSA). We hypothesized that a comparison of these two diseases would help to identify compensatory effects in PD. from Journal of the Neurological Sciences https://ift.tt/2HTcfvO

Muscle at the junction: Where next generation sequencing is sending us

Skeletal muscle membrane stability is dependent on the actions of sodium, calcium, and chloride channels to appropriately gate ion activity. The sodium channel Na v 1.4 in particular has been recognized as having a critical role in the gating of ion current in skeletal muscle. 1 Mutations in Na v 1.4 due to variants in the SCN4A gene result in a variety of phenotypes including hyperkalemic and hypokalemic periodic paralysis, paramyotonia congenita, and congenital myasthenic syndrome with mixed dominant and recessive inheritance. Dominantly inherited disorders such as hypokalemic periodic paralysis result in leaky sodium channels that in turn results in transient episodic weakness that often presents early in childhood. 2 Eventually, many of these patients develop myopathic features including fixed proximal weakness. Dominant mutations in SCN4A that result in increased sodium influx cause hyperkalemic periodic paralysis and paramyotonia congenita phenotypes. 3 In contrast, loss-of-...

Does reducing blood pressure and cholesterol provide any HOPE for preventing cognitive decline and dementia?

Dementia is a rapidly increasing global clinical and public health issue in aging populations, and insights from observation and clinical assessment aided by pathology consistently suggest that modifying cardiovascular risk factors may prevent cognitive decline. 1 Such an approach was tested in the third Health Outcomes Prevention Evaluation (HOPE-3) trial, 2 as reported in this issue of Neurology ®, in which an assessment of cognitive outcomes was included in an older subgroup (age ≥70 years) of 12,705 participants who had intermediate cardiovascular risk but had no prior cardiovascular events who were randomized to blood pressure (BP) lowering with a combination of candesartan and hydrochlorothiazide and cholesterol lowering with rosuvastatin. Of the initial 3,086 (24%) participants eligible for the cognitive substudy by age, 2,361 (77%) agreed to participate, and 1,626 (69%) were able to complete a series of tests emphasizing various aspects of cognitive function at baseline and a...

High serum neurofilament light chain predicts a worse fate in early parkinsonism

People with motor symptoms, such as involuntary tremor, slowness of movement, and gait difficulty, often first present for evaluation and diagnosis in general neurology offices. Although the first sign in Parkinson disease (PD) at an early stage varies, the diagnosis of PD is often the correct one, simply by taking account of its prevalence. However, confirmation of that diagnosis takes time and serial examinations, and it is increasingly recognized that a fraction of those diagnosed with PD actually have another movement disorder and will therefore have a different neurodegenerative disease at autopsy. 1 In particular, the atypical parkinsonism disorders (APDs), such as multiple system atrophy (MSA), progressive supranuclear palsy, and corticobasal syndrome, as well as vascular parkinsonism, can mimic PD at early stages of the clinical disease. These misdiagnoses are not isolated to the general neurology practice; in fact, when the presentation is unusual or early enough, even moveme...

Managing treatment fluctuations in Parkinson disease: "On" again-, "off" again

The first truly effective medical therapy for Parkinson disease (PD), levodopa, was introduced in the 1960s. Patients had to take huge doses of levodopa, with treatment limited by peripheral decarboxylation of levodopa to dopamine by dopa decarboxylase (DDC), resulting in substantial peripheral side effects. 1 Benserazide and carbidopa were developed as dopa decarboxylase inhibitors (DDCIs); because they do not cross the blood-brain barrier, they effectively block the peripheral decarboxylation of levodopa to dopamine. The combination of carbidopa and levodopa (Sinemet; Merck, Whitehouse Station, NJ) was marketed in 1975. This allowed for levodopa dose reduction due to increased (brain) bioavailability and a marked reduction of peripheral side effects. 2 The total daily dose of carbidopa needed to effectively block peripheral decarboxylation of levodopa has been 75 to 100 mg, although some patients require supplemental higher doses of carbidopa (Lodosyn; Aton Pharma, Lawrencevill...

Teaching neurology: Guided walk in the park or solo free-climb?

In this issue of Neurology ®, Safdieh et al. 1 present an update of the original Neurology Clerkship Core Curriculum previously prepared by a consortium of neurology educators and originally published in this journal in 2002. 2 Safdieh et al. do a comprehensive job by including core concepts fundamental for a required clinical neurology experience. In many ways, this updated iteration of the "essence of a neurology clinical experience" feels like the result of a Darwinian process. Several changes in the structure of clinical neurology experiences, as well as national requirements, have occurred since the original 2002 article, requiring curricula goal and objective updates. For example, in 2014, the Association of American Medical College's annual Graduation Questionnaire began including questions about direct observation of history-taking and physical examination skills in the neurology clerkship, essentially requiring directors to include such components as part of th...

Core curriculum guidelines for a required clinical neurology experience

Physicians in most specialties frequently encounter patients with neurologic conditions. For most non-neurologists, postgraduate neurologic education is variable and often limited, so every medical school's curriculum must include clinical learning experiences to ensure that all graduating medical students have the basic knowledge and skills required to care for patients with common neurologic symptoms and neurologic emergencies. In the nearly 20 years that have elapsed since the development of the initial American Academy of Neurology (AAN)–endorsed core curriculum for neurology clerkships, many medical school curricula have evolved to include self-directed learning, shortened foundational coursework, earlier clinical experiences, and increased utilization of longitudinal clerkships. A workgroup of both the Undergraduate Education Subcommittee and Consortium of Neurology Clerkship Directors of the AAN was formed to update the prior curriculum to ensure that the content is current ...

Visibly enlarged peripheral nerves in lepromatous leprosy

A 52-year-old man from the Peruvian jungle presented with a 4-year history of progressive distal numbness and facial swelling. He had diffusely infiltrated skin on his face, torso, and extremities (figure, A and B), with patchy pinprick sensation loss. Multiple peripheral nerves were palpable, including ulnar and fibular nerves, in addition to visibly enlarged great auricular (figure, C) and superficial radial nerves (figure, D). from Neurology recent issues https://ift.tt/2HTglUE

Editors' note: Disability in adults with arthrogryposis is severe, partly invisible, and varies by genotype

In "Disability in adults with arthrogryposis is severe, partly invisible, and varies by genotype," Dai et al. reported that disability patterns in a cohort of adults with arthrogryposis multiplex congenita were influenced by genotype, with important invisible disability. In response, Drs. Sawatzky et al. contend that the data emphasized the patients' "negatives" and that such language may lead readers, including the general public, to underestimate patients' capabilities to lead meaningful lives. from Neurology recent issues https://ift.tt/2upWdSg

Reader response: Disability in adults with arthrogryposis is severe, partly invisible, and varies by genotype

Dai et al. 1 published a report of a long-term comprehensive follow-up of adults with arthrogryposis from their specialized clinic, perhaps the first such clinic in the world. They published valuable information, but emphasized the patients' negatives rather than their strengths, which raised a red flag about how we, as researchers, write and publish findings. Language and tone that we use in our literature makes a difference. In modern clinical literature, it must inspire physicians to use positive language with their patients, encouraging patients to become healthier and independent, despite their disabilities. How patient data are portrayed in our literature matters since more patients and families access our work. Dai et al. writes about impairment rather than function. If a parent were to read this article, he or she would think his or her child will become a miserable adult not able to do much, but other arthrogryposis studies refute this. 2–4 Adults with disabilities must ...

Author response: Disability in adults with arthrogryposis is severe, partly invisible, and varies by genotype

In their comment on our article, 1 Drs. Sawatzky and Hall discuss how to positively or negatively describe a handicap, in terms of either ability or disability, and how to inform patients. We refer to the International Classification of Functioning, Disability and Health, 2 edited with the aim to provide a unified and standard language for describing health and health-related states. Medical writing is also subject to international recommendations to ensure clear, ethical, and unbiased reporting of scientific findings, 3 and this is also true for rare diseases. We followed these recommendations and reject any allegation of a negative attitude in our article. 1 from Neurology recent issues https://ift.tt/2uB9tnn

Editors' note: A family-based study into penetrance in facioscapulohumeral muscular dystrophy type 1

In "A family-based study into penetrance in facioscapulohumeral muscular dystrophy type 1," Wohlgemuth et al. identified many asymptomatic mutation carriers by careful examination of facial and shoulder muscles, noting that such recognition is essential for participant selection for future trials. In response, Drs. Brignol and Urtizberea suggest that examining for often-asymptomatic retinal vasculopathy using techniques like optical coherence tomography angiography may help further characterize genotype–phenotype correlations in facioscapulohumeral muscular dystrophy. from Neurology recent issues https://ift.tt/2HRDwik

Reader response: A family-based study into penetrance in facioscapulohumeral muscular dystrophy type 1

We read with interest the article reporting on facioscapulohumeral muscular dystrophy (FSHD) type 1 probands and their relatives. Penetrance of FSHD, based on muscle symptoms, depends on D4Z4 repeat size and continues to increase in adulthood. 1 It would be interesting to study the penetrance of retinal vasculopathy in this family by using optical coherence tomography angiography, a noninvasive imaging technique that acquires volumetric angiographic information without the use of a dye. Indeed, according to the existing literature, only a systematic examination of eye fundus can detect telangiectasia and aneurysms, which may be present early in life before evidence of muscle disease. 2 Very few complaints related to retinal alteration have been reported by patients with FSHD, as retinal lesions rarely affect the macula. A more severe retinal vasculopathy, known as Coats-like retinopathy, is observed by fluorescein angiography in 40%–75% of patients with FSHD. However, retinal finding...

Author response: A family-based study into penetrance in facioscapulohumeral muscular dystrophy type 1

We thank Drs. Brignol and Urtizberea for the comment on our article. 1 We agree that retinal abnormalities are an interesting additional mode to study the penetrance of facioscapulohumeral dystrophy (FSHD). Indeed, we are currently performing an observational study on retinal abnormalities in another cohort of patients with FSHD. We acknowledge that a family-based approach would offer additional insights. Also, we agree that interdisciplinary collaborations enhance our understanding of the pathophysiology and optimal care for patients. from Neurology recent issues https://ift.tt/2HTgjMw

A Genetically Encoded Fluorescent Sensor for Rapid and Specific In Vivo Detection of Norepinephrine

Feng et al. develop and validate a pair of genetically encoded GPCR-activation-based norepinephrine sensors, which, for the first time, enable specific in vivo measurement of norepinephrine dynamics during stressful behaviors with high spatiotemporal resolution in zebrafish and mice. from journals https://ift.tt/2Fsh8sW

α1ACT Is Essential for Survival and Early Cerebellar Programming in a Critical Neonatal Window

Du et al. detail how a novel transcription factor, α1ACT, orchestrates postnatal cerebellar development, a finding highly relevant to loss-of-function CACNA1A genetic developmental disorders. The role of α1ACT wanes in adulthood, paving the way for its safe suppression to treat gain-of-function mutations. from journals https://ift.tt/2FBdnmt

Should Environmentalists Learn to Take a Joke?

Early in my graduate school career I attended my first ASLE conference, which gathers scholars working at the interdisciplinary crossroads of environmental humanities and literature. The conversations were invigorating and the mild June weather invited un-conference-y activities, like a late-night Frisbee game on the quad, lubricated with convenience store beer. On the second evening I found... The post Should Environmentalists Learn to Take a Joke? appeared first on Public Books . from Public Books https://ift.tt/2HG4dHk

Gait worsening and the microlesion effect following deep brain stimulation for essential tremor

Congratulations to Drs. Deeb, Shukla, Hess, Foote, and Okun on the publication of “ Gait worsening and the microlesion effect following deep brain stimulation for essential tremor, ” in the latest issue of The Journal of Neurology, Neurosurgery & Psychiatry. Abstract Objective  To investigate the effects of unilateral thalamic deep brain stimulation (DBS) on walking in persons with medication-refractory essential tremor (ET). Methods  We performed laboratory-based gait analyses on 24 persons with medication-refractory ET before and after unilateral thalamic DBS implantation. Normal and tandem walking parameters were analysed across sessions (PRE-DBS/DBS OFF/DBS ON) by repeated measures analyses of variance. Pearson’s correlations assessed whether changes in walking after DBS were global (ie, related across gait parameters). Baseline characteristics, lead locations and stimulation parameters were analysed as possible contributors to gait effects. Results  DBS ...

Mitochondrial metabolic stroke: Phenotype and genetics of stroke-like episodes

Stroke-like episodes (SLEs) are the hallmark of mitochondrial encephalopathy with lactic acidosis and stroke-like episode (MELAS) syndrome but rarely occur also in other specific or nonspecific mitochondrial disorders. Pathophysiologically, SLLs are most likely due to a regional disruption of the blood-brain barrier triggered by the underlying metabolic defect, epileptic activity, drugs, or other factors. SLEs manifest clinically with a plethora of cerebral manifestations, which not only include features typically seen in ischemic stroke, but also headache, epilepsy, ataxia, visual impairment, vomiting, and psychiatric abnormalities. from Journal of the Neurological Sciences https://ift.tt/2FnRRjF

9 promising advances in the management of traumatic brain injury

Traumatic brain injury (TBI) is simply disheartening . It is particularly devastating because it usually affects young people in their prime, with the consequent personal, social, and economic consequences . This blog has previously touched a little on TBI with the post titled Will Smith and chronic traumatic encephalopathy?   This was a light-hearted take on concussion in sports , but traumatic brain injury is nothing but a serious burden. So what are the big brains in white coats doing to take down this colossus ? Quite a lot it seems. Here, for a taster, are 9 promising advances in the management of traumatic brain injury. brain 22. Affen Ajlfe on Flickr. https://www.flickr.com/photos/142299342@N06/32794072623 Better understanding of pathology An amyloid PET imaging study by Gregory Scott and colleagues, published in the journal Neurology , reported a rather surprising link between the pathology seen in long-term survivors of traumatic brain injury, with the pa...