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https://www.readbyqxmd.com/read/29782307/cutaneous-manifestations-of-tuberous-sclerosis
#1
Mirjana Bakić, Marina Ratković, Branka Gledović, Balsa Vujović, Danilo Radunović, Vera Babić, Vladimir Prelević
Dear Editor, Tuberous sclerosis (TS) is an autosomal dominant multisystem disease, which occurs due to genetically determined hyperplasia of ectodermal and mesodermal cells. Clinical manifestations present on the skin and in the nervous system, kidneys, heart, and other organs. Recent studies estimate the incidence of TS at 1/6000 to 1/10,000 live births, and a prevalence in the general population of approximately 1 in 20,000 (1). There are two different genetic loci responsible for TS: 9q34 (TSC1-hamartin) and 16p13...
April 2018: Acta Dermatovenerologica Croatica: ADC
https://www.readbyqxmd.com/read/29775977/-rehabilitation-after-traumatic-fracture-of-thoracic-and-lumbar-spine
#2
Hartmut Bork, Stefan Simmel, Eckhardt Böhle, Ulrich Ernst, Klaus Fischer, Bernd Fromm, Jean-Jacques Glaesener, Bernhard Greitemann, P Krause, S Panning, V Pullwitt, J Schmidt, Andreas Veihelmann, Lutz Vogt
On the basis of the S2-k guideline "Rehabilitation after traumatic fractures of the thoracic und lumbar spine without neurologic disorder", this article gives an overview of target-oriented rehabilitation of patients with minor fractures or those with column stability and unstable spinal fractures which are stabilised by surgery. To obtain early social and job related reintegration, outpatient or inpatient rehabilitation has to start immediately after treatment in hospital. Rehabilitation must be orientated towards the biopsychosocial model of ICF and has to be adapted for the patient...
May 18, 2018: Zeitschrift Für Orthopädie und Unfallchirurgie
https://www.readbyqxmd.com/read/29766750/clopidogrel-and-aspirin-in-acute-ischemic-stroke-and-high-risk-tia
#3
S Claiborne Johnston, J Donald Easton, Mary Farrant, William Barsan, Robin A Conwit, Jordan J Elm, Anthony S Kim, Anne S Lindblad, Yuko Y Palesch
Background Combination antiplatelet therapy with clopidogrel and aspirin may reduce the rate of recurrent stroke during the first 3 months after a minor ischemic stroke or transient ischemic attack (TIA). A trial of combination antiplatelet therapy in a Chinese population has shown a reduction in the risk of recurrent stroke. We tested this combination in an international population. Methods In a randomized trial, we assigned patients with minor ischemic stroke or high-risk TIA to receive either clopidogrel at a loading dose of 600 mg on day 1, followed by 75 mg per day, plus aspirin (at a dose of 50 to 325 mg per day) or the same range of doses of aspirin alone...
May 16, 2018: New England Journal of Medicine
https://www.readbyqxmd.com/read/29754270/heterozygous-missense-variants-of-lmx1a-lead-to-nonsyndromic-hearing-impairment-and-vestibular-dysfunction
#4
Mieke Wesdorp, Pia A M de Koning Gans, Margit Schraders, Jaap Oostrik, Martijn A Huynen, Hanka Venselaar, Andy J Beynon, Judith van Gaalen, Vitória Piai, Nicol Voermans, Michelle M van Rossum, Bas P Hartel, Stefan H Lelieveld, Laurens Wiel, Berit Verbist, Liselotte J Rotteveel, Marieke F van Dooren, Peter Lichtner, Henricus P M Kunst, Ilse Feenstra, Ronald J C Admiraal, Helger G Yntema, Lies H Hoefsloot, Ronald J E Pennings, Hannie Kremer
Unraveling the causes and pathomechanisms of progressive disorders is essential for the development of therapeutic strategies. Here, we identified heterozygous pathogenic missense variants of LMX1A in two families of Dutch origin with progressive nonsyndromic hearing impairment (HI), using whole exome sequencing. One variant, c.721G > C (p.Val241Leu), occurred de novo and is predicted to affect the homeodomain of LMX1A, which is essential for DNA binding. The second variant, c.290G > C (p.Cys97Ser), predicted to affect a zinc-binding residue of the second LIM domain that is involved in protein-protein interactions...
May 12, 2018: Human Genetics
https://www.readbyqxmd.com/read/29746230/safety-of-programmed-death-1-pathway-inhibitors-among-patients-with-non-small-cell-lung-cancer-and-preexisting-autoimmune-disorders
#5
Giulia C Leonardi, Justin F Gainor, Mehmet Altan, Sasha Kravets, Suzanne E Dahlberg, Lydia Gedmintas, Roxana Azimi, Hira Rizvi, Jonathan W Riess, Matthew D Hellmann, Mark M Awad
Purpose Although programmed death (PD)-1 pathway inhibitors are now used in nearly all patients with advanced non-small-cell lung cancer (NSCLC), the large number of patients with NSCLC and concurrent autoimmune disease (AID) have been universally excluded from immunotherapy clinical trials. Therefore, the safety of PD-1 and PD-ligand 1 (PD-L1) inhibitors in patients with NSCLC and underlying AID is currently unknown. Methods As part of a multi-institutional effort, we retrospectively collected clinicopathologic data from patients with NSCLC and a history of AID who received monotherapy with either a PD-1 or a PD-L1 (herein referred to as PD-[L]1) inhibitor...
May 10, 2018: Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology
https://www.readbyqxmd.com/read/29742062/global-perspective-of-novel-therapeutic-strategies-for-the-management-of-neuroaids
#6
Swatantra Kumar, Vimal K Maurya, Himanshu R Dandu, Madan Lb Bhatt, Shailendra K Saxena
Among Human immunodeficiency virus (HIV) infected individuals, around two-thirds of patients present with neuroAIDS, where HIV-associated neurocognitive disorders (HAND), and HIV-associated dementia (HAD) are the most prevailing neurological complications. The neuropathology of neuroAIDS can be characterized by the presence of HIV infected macrophages and microglia in the brain, with the formation of multinucleated giant cells. Global predominant subtypes of HIV-1 clade B and C infections influence the differential effect of immune and neuronal dysfunctions, leading to clade-specific clinical variation in neuroAIDS patient cohorts...
May 8, 2018: Biomolecular Concepts
https://www.readbyqxmd.com/read/29735513/a-unifying-theory-for-cognitive-abnormalities-in-functional-neurological-disorders-fibromyalgia-and-chronic-fatigue-syndrome-systematic-review
#7
REVIEW
Tiago Teodoro, Mark J Edwards, Jeremy D Isaacs
BACKGROUND: Functional cognitive disorder (FCD) describes cognitive dysfunction in the absence of an organic cause. It is increasingly prevalent in healthcare settings yet its key neuropsychological features have not been reported in large patient cohorts. We hypothesised that cognitive profiles in fibromyalgia (FM), chronic fatigue syndrome (CFS) and functional neurological disorders (FNDs) would provide a template for characterising FCD. METHODS: We conducted a systematic review of studies with cognition-related outcomes in FM, CFS and FND...
May 7, 2018: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/29705589/prevalence-and-correlates-of-neurological-soft-signs-in-healthy-controls-without-family-history-of-any-mental-disorder-a-neurodevelopmental-variation-rather-than-a-specific-risk-factor
#8
Konstantinos N Fountoulakis, Panagiotis Panagiotidis, Vasilios Kimiskidis, Ioannis Nimatoudis, Xenia Gonda
OBJECTIVE: Neurological soft signs (NSS) are a group of minor non-localizable neurological abnormalities found more often in patients with schizophrenia and other mental disorders. The aim of the current study was to investigate their prevalence and correlates in healthy controls without family history of any mental disorder. MATERIAL AND METHODS: The study sample included 122 normal subjects (66 males and 56 females; aged 32.89 ± 9.91 years old). The assessment included the Neurological Evaluation Scale (NES), and a number of scales assessing the subthreshold symptoms (MADRS, STAI) and functioning (GAF)...
April 26, 2018: International Journal of Developmental Neuroscience
https://www.readbyqxmd.com/read/29674479/regionally-clustered-abcc8-polymorphisms-in-a-prospective-cohort-predict-cerebral-oedema-and-outcome-in-severe-traumatic-brain-injury
#9
Ruchira Menka Jha, Theresa A Koleck, Ava M Puccio, David O Okonkwo, Seo-Young Park, Benjamin E Zusman, Robert S B Clark, Lori A Shutter, Jessica S Wallisch, Philip E Empey, Patrick M Kochanek, Yvette P Conley
OBJECTIVE: ABCC8 encodes sulfonylurea receptor 1, a key regulatory protein of cerebral oedema in many neurological disorders including traumatic brain injury (TBI). Sulfonylurea-receptor-1 inhibition has been promising in ameliorating cerebral oedema in clinical trials. We evaluated whether ABCC8 tag single-nucleotide polymorphisms predicted oedema and outcome in TBI. METHODS: DNA was extracted from 485 prospectively enrolled patients with severe TBI. 410 were analysed after quality control...
April 19, 2018: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/29671499/poststreptococcal-illness-recognition-and-management
#10
David L Maness, Michael Martin, Gregg Mitchell
Group A beta-hemolytic streptococcus can cause several postinfectious, nonsuppurative immune- mediated diseases including acute rheumatic fever, poststreptococcal reactive arthritis, pediatric autoimmune neuropsychiatric disorders, and poststreptococcal glomerulonephritis. Except for sporadic outbreaks, poststreptococcal autoimmune syndromes occur most commonly in sub-Saharan Africa, India, Australia, and New Zealand. Children younger than three years are rarely affected by group A streptococcus pharyngitis or rheumatic fever, and usually do not require testing...
April 15, 2018: American Family Physician
https://www.readbyqxmd.com/read/29649181/minor-neurological-dysfunctions-mnds-in-autistic-children-without-intellectual-disability
#11
Gabriele Tripi, Sylvie Roux, Marco Carotenuto, Frédérique Bonnet-Brilhault, Michele Roccella
BACKGROUND: Children with autism spectrum disorder (ASD) require neurological evaluation to detect sensory-motor impairment. This will improve understanding of brain function in children with ASD, in terms of minor neurological dysfunctions (MNDs). METHODS: We compared 32 ASD children without intellectual disability (IQ ≥ 70) with 32 healthy controls. A standardized and age-specific neurological examination according to Touwen was used to detect the presence of MNDs...
April 12, 2018: Journal of Clinical Medicine
https://www.readbyqxmd.com/read/29619928/studies-of-upper-limb-pain-in-occupational-medicine-in-general-practice-and-among-computer-operators
#12
Jørgen Riis Jepsen
Diagnostic consensus criteria cannot be applied in a major proportion of patients with upper limb complaints, many of which are regarded as "non-specific". The three empirical studies in this thesis aimed to address this diagnostic challenge by incorporating representative neurological qualities in the physical examination.
Patterns of muscle weakness, sensory abnormalities and nerve trunk allodynia based on the nerves' topography and their motor and cutaneous innervation were defined to reflect peripheral nerve afflictions and their locations...
April 2018: Danish Medical Journal
https://www.readbyqxmd.com/read/29605507/developmental-dysgraphia-is-often-associated-with-minor-neurological-dysfunction-in-children-with-developmental-coordination-disorder-dcd
#13
Clémence Lopez, Cherhazad Hemimou, Bernard Golse, Laurence Vaivre-Douret
OBJECTIVES: Children with developmental coordination disorder (DCD) are particularly affected by handwriting disorders, which remain poorly understood and are not clearly defined. The aim of our study is to provide a better understanding of handwriting disorders, and specifically of dysgraphia in children with DCD. METHODS: Sixty-five children with DCD (5-15 years), enrolled according to DSM-5, were assessed with handwriting testing and standardized assessments of neuropsychological, neurovisual, MRI and neuropsychomotor functions, with special attention paid to muscular tone examination...
March 28, 2018: Neurophysiologie Clinique, Clinical Neurophysiology
https://www.readbyqxmd.com/read/29589805/hyaluronan-impairs-the-barrier-integrity-of-brain-microvascular-endothelial-cell-through-a-cd44-dependent-pathway
#14
Abraham J Al-Ahmad, Ronak Patel, Sean P Palecek, Eric V Shusta
Hyaluronan (HA) constitutes the most abundant extracellular matrix component during brain development, only to become a minor component rapidly after birth and in adulthood to remain in specified regions. HA signaling has been associated with several neurological disorders, yet the impact of HA signaling at the blood-brain barrier (BBB) function remains undocumented. In this study, we investigated the impact of HA on BBB properties using human-induced pluripotent stem cell (iPSC) -derived and primary human and rat BMECs...
January 1, 2018: Journal of Cerebral Blood Flow and Metabolism
https://www.readbyqxmd.com/read/29578489/rem-sleep-behavior-disorder-and-alzheimer-s-disease-definitely-no-relationship
#15
Andrea Galbiati, Giulia Carli, Michael Hensley, Luigi Ferini-Strambi
Rapid eye movement (REM) sleep behavior disorder (RBD) is a REM sleep parasomnia characterized by the loss of the typical muscular atonia present during healthy REM sleep. RBD can occur in the absence of other neurological conditions or in association with a neurodegenerative disorder. It is now well established that RBD is a strong predictor of neurodegeneration, in particular synucleinopathies, such as Parkinson's disease, Lewy body dementia (LBD), or multiple system atrophy. However, some longitudinal studies report that a minority of patients develop either overlapping form of dementia or Alzheimer disease's (AD)...
2018: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/29553959/a-comparison-of-neuromuscular-electrical-stimulation-and-traditional-therapy-versus-traditional-therapy-in-patients-with-longstanding-dysphagia
#16
Jo Frost, H Fiona Robinson, Judi Hibberd
PURPOSE OF REVIEW: Dysphagia in adults arises from a range of causes including acquired neurological disorders and some cancers. Previous research has suggested that treatment using neuromuscular electrical stimulation (NMES) when used in conjunction with conventional therapy is effective. This review describes the recent literature and a small prospective case series carried out in the United Kingdom. This study contributed to support National Institute of Clinical Excellence (NICE) guidance for clinicians who wish to include NMES in a rehabilitation programme for dysphagic patients, specifically with reference to safety and the impact on swallowing function of this intervention...
June 2018: Current Opinion in Otolaryngology & Head and Neck Surgery
https://www.readbyqxmd.com/read/29467577/human-immunodeficiency-virus-in-the-brain-culprit-or-facilitator
#17
REVIEW
Luminita Ene
Introduction: Human immunodeficiency virus (HIV) enters the brain early, where it can persist, evolve, and become compartmentalized. Central nervous system (CNS) disease can be attributed to HIV alone or to the complex interplay between the virus and other neurotropic pathogens. Aim: The current review aims to describe the direct impact of HIV on the brain as well as its relationship with other pathogens from a practitioner's perspective, to provide a general clinical overview, brief workup, and, whenever possible, treatment guidance...
2018: Infectious Diseases
https://www.readbyqxmd.com/read/29452686/technological-advances-and-changing-indications-for-lumbar-puncture-in-neurological-disorders
#18
REVIEW
Joost M Costerus, Matthijs C Brouwer, Diederik van de Beek
Technological advances have changed the indications for and the way in which lumbar puncture is done. Suspected CNS infection remains the most common indication for lumbar puncture, but new molecular techniques have broadened CSF analysis indications, such as the determination of neuronal autoantibodies in autoimmune encephalitis. New screening techniques have increased sensitvity for pathogen detection and can be used to identify pathogens that were previously unknown to cause CNS infections. Evidence suggests that potential treatments for neurodegenerative diseases, such as Alzheimer's disease, will rely on early detection of the disease with the use of CSF biomarkers...
March 2018: Lancet Neurology
https://www.readbyqxmd.com/read/29380261/intracranial-arterial-calcifications-as-a-prognostic-factor-for-subsequent-major-adverse-cardiovascular-events-mace
#19
Frederik F Strobl, Beatrice Kuhlin, Robert Stahl, Bastian O Sabel, Andreas D Helck, Andreas Schindler, Matthias Witt, Fabian Bamberg, Maximilian F Reiser, Tobias Saam
BACKGROUND: Intracranial arterial calcifications (ICAC) are often detected on unenhanced CT of patients with an age > 60. However, association with the subsequent occurrence of major adverse cardiovascular events (MACE) has not yet been evaluated. PURPOSE: This study aimed at evaluating the association of ICAC with subsequent MACE and overall mortality. METHODS: In this retrospective, IRB approved study, we included 175 consecutive patients (89 males, mean age 78...
January 30, 2018: La Radiologia Medica
https://www.readbyqxmd.com/read/29361268/gamma-ventral-capsulotomy-in-intractable-obsessive-compulsive-disorder
#20
Steven A Rasmussen, Georg Noren, Benjamin D Greenberg, Richard Marsland, Nicole C McLaughlin, Paul J Malloy, Stephen P Salloway, David R Strong, Jane L Eisen, Michael A Jenike, Scott L Rauch, Lee Baer, Christer Lindquist
BACKGROUND: Despite the development of effective pharmacologic and cognitive behavioral treatments for obsessive-compulsive disorder (OCD), some patients continue to be treatment-refractory and severely impaired. Fiber tracts connecting orbitofrontal and dorsal anterior cingulate cortex with subcortical nuclei have been the target of neurosurgical lesions as well as deep brain stimulation in these patients. We report on the safety and efficacy of ventral gamma capsulotomy for patients with intractable OCD...
December 15, 2017: Biological Psychiatry
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