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https://www.readbyqxmd.com/read/29651353/a-rare-case-of-systemic-al-amyloidosis-with-muscle-involvement-a-misleading-diagnosis
#1
Fabrizio Accardi, Valentina Papa, Anna Rita Capozzi, Gian Luca Capello, Laura Verga, Cristina Mancini, Eugenia Martella, Roberta Costa, Laura Notarfranchi, Benedetta Dalla Palma, Franco Aversa, Vladimiro Pietrini, Giovanna Cenacchi, Nicola Giuliani
Muscle involvement in AL amyloidosis is a rare condition, and the diagnosis of amyloid myopathy is often delayed and underdiagnosed. Amyloid myopathy may be the initial manifestation and may precede the diagnosis of systemic AL amyloidosis. Here, we report the case of a 73-year-old man who was referred to our center for a monoclonal gammopathy of undetermined significance (MGUS) diagnosed since 1999. He reported a progressive weakness of proximal muscles of the legs with onset six months previously. Muscle biopsy showed mild histopathology featuring alterations of nonspecific type with a mixed myopathic and neurogenic involvement, and the diagnostic turning point was the demonstration of characteristic green birefringence under cross-polarized light following Congo red staining of perimysial vessels...
2018: Case Reports in Hematology
https://www.readbyqxmd.com/read/29596066/sudden-unexpected-death-in-epilepsy-incidence-risk-factors-and-proposed-mechanisms
#2
Steven P Ellis, Charles Ákos Szabó
Epilepsy is a common neurological disorder associated with increased morbidity and mortality, including premature death from different causes. Sudden unexpected death in epilepsy, or SUDEP, is one of the most common causes of death in people with epilepsy and originally brought to light by medical examiners. It accounts for 5% to 30% of all deaths in individuals with epilepsy and up to 50% in individuals with medically refractory epilepsy. It is commonly associated with a history of generalized tonic-clonic seizures and may be mitigated by other electroclinical risk factors, such as postictal electroencephalographic suppression, prone position, altered heart rate variability, conduction abnormalities, gender, or antiepileptic medications, to name a few...
March 28, 2018: American Journal of Forensic Medicine and Pathology
https://www.readbyqxmd.com/read/29594076/translation-cross-cultural-adaptation-validation-and-reliability-of-the-northwestern-dysphagia-patient-check-sheet-ndpcs-in-iran
#3
Jalal Bakhtiyari, Masoomeh Salmani, Reyhaneh Noruzi, Payam Sarraf, Ebrahim Barzegar, Majid Mirmohammadkhani
Introduction: Speech and language therapists (SLTs) require proper tools to detect dysphagia in the early stages. One of these screening tools is the Northwestern Dysphagia Patient Check Sheet (NDPCS). However, this tool needs to be adapted, validated, and shown to be reliable for the Persian culture. The aim of the present study was to report the validity and reliability of the Persian NDPCS (P-NDPCS). Materials and Methods: The NDPCS has 28 items and five sections...
March 2018: Iranian Journal of Otorhinolaryngology
https://www.readbyqxmd.com/read/29590553/aps-sickle-cell-disease-conference-mini-review-targeting-pain-at-its-source-in-sickle-cell-disease
#4
Kanika Gupta, Om Jahagirdar, Kalpna Gupta
Sickle cell disease (SCD) is a genetic disorder associated with hemolytic anemia, end-organ damage, reduced survival and pain. One of the unique features of SCD is, recurrent and unpredictable episodes of acute pain due to vaso-occlusive crisis, requiring hospitalization. Additionally, SCD patients often develop chronic persistent pain. Currently, sickle pain is treated with opioids, an approach limited by adverse effects. Because pain can start at infancy and continue throughout life, preventing the genesis of pain may be relatively better than treating the pain once it has been evoked...
March 28, 2018: American Journal of Physiology. Regulatory, Integrative and Comparative Physiology
https://www.readbyqxmd.com/read/29582112/role-of-neurogenic-inflammation-in-local-communication-in-the-visceral-mucosa
#5
REVIEW
Lori A Birder, F Aura Kullmann
Intense research has focused on the involvement of the nervous system in regard to cellular mechanisms underlying neurogenic inflammation in the pelvic viscera. Evidence supports the neural release of inflammatory factors, trophic factors, and neuropeptides in the initiation of inflammation. However, more recently, non-neuronal cells including epithelia, endothelial, mast cells, and paraneurons are likely important participants in nervous system functions. For example, the urinary bladder urothelial cells are emerging as key elements in the detection and transmission of both physiological and nociceptive stimuli in the lower urinary tract...
March 26, 2018: Seminars in Immunopathology
https://www.readbyqxmd.com/read/29565697/music-interventions-in-disorders-of-consciousness-doc-a-systematic-review
#6
Teresa Grimm, Gunter Kreutz
OBJECTIVES: The effects of music interventions including active and receptive music therapy for people living with neurogenic disorders of consciousness (DOC) have been subject to empirical studies in the past. The aim of this systematic review was to find and analyse the current research about the effects of musical interventions on people with DOC. METHODS: For this purpose, studies with music interventions and patients with DOC from the year 1900 to 2017 were searched in English, German, and French in different databases...
March 22, 2018: Brain Injury: [BI]
https://www.readbyqxmd.com/read/29562773/placental-stem-cells-from-domestic-animals-translational-potential-and-clinical-relevance
#7
B Barboni, V Russo, P Berardinelli, A Mauro, L Valbonetti, H Sanyal, A Canciello, L Greco, A Muttini, V Gatta, L Stuppia, M Mattioli
The field of regenerative medicine is moving toward clinical practice in veterinary science. In this context, placenta-derived stem cells isolated from domestic animals have covered a dual role, acting both as therapies for patients and as a valuable cell source for translational models. The biological properties of placenta-derived cells, comparable among mammals, make them attractive candidates for therapeutic approaches. In particular, stemness features, low immunogenicity, immunomodulatory activity, multilineage plasticity, and their successful capacity for long-term engraftment in different host tissues after autotransplantation, allo-transplantation, or xenotransplantation have been demonstrated...
January 2018: Cell Transplantation
https://www.readbyqxmd.com/read/29556959/neurogenic-inflammation-in-fibromyalgia
#8
REVIEW
Geoffrey Littlejohn, Emma Guymer
Fibromyalgia is a high impact chronic pain disorder with a well-defined and robust clinical phenotype. Key features include widespread pain and tenderness, high levels of sleep disturbance, fatigue, cognitive dysfunction and emotional distress. Abnormal processing of pain and other sensory input occurs in the brain, spinal cord and periphery and is related to the processes of central and peripheral sensitization. As such, fibromyalgia is deemed to be one of the central sensitivity syndromes. There is increasing evidence of neurogenically derived inflammatory mechanisms occurring in the peripheral tissues, spinal cord and brain in fibromyalgia...
March 19, 2018: Seminars in Immunopathology
https://www.readbyqxmd.com/read/29535096/middle-mediastinal-schwannoma-concealed-by-asthma-and-gord
#9
Prudence Dy, Cristina Lajom, Josephino Sanchez
Neurogenic tumours of the mediastinum in adults occur most often at the posterior mediastinum, majority of which are benign of nerve sheath in origin. A 72-year-old woman, known asthmatic, presented with chronic symptoms of hoarseness, dysphagia, chest heaviness, easy fatigability, cough, epigastric pain, feeling of abdominal fullness and choking with food intake and at a supine position. Treated for other disorders, routine chest X-ray incidentally found a homogenous convex radiodensity at the right paratracheal area; mass which was also observed with CT and 18F-fludeoxyglucose-positron emission tomography/CT scan studies...
March 13, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29529552/does-ceasing-exercise-induce-depressive-symptoms-a-systematic-review-of-experimental-trials-including-immunological-and-neurogenic-markers
#10
REVIEW
Julie A Morgan, Andrew T Olagunju, Frances Corrigan, Bernhard T Baune
BACKGROUND: Regular exercise in adults improves depressive symptoms (DS) and major depressive disorder (MDD), however the clinical effects of ceasing exercise are largely unknown. METHODS: Seven databases were searched from inception to December 2017. Eligibility criteria included English language studies investigating the effects of ceasing exercise on DS or MDD in regularly active adults with or without prior DS or MDD. Blood based markers related to exercise cessation (EC) were assessed, if recorded...
February 24, 2018: Journal of Affective Disorders
https://www.readbyqxmd.com/read/29527379/glycyl-trna-synthetase-gars-gene-variant-causes-distal-hereditary-motor-neuropathy-v
#11
Peter Chung, Hope Northrup, Misbah Azmath, Ricardo A Mosquera, Shade Moody, Aravind Yadav
Distal hereditary motor neuropathies (dHMN) are a rare heterogeneous group of inherited disorders specifically affecting the motor axons, leading to distal limb neurogenic muscular atrophy. The GARS gene has been identified as a causative gene responsible for clinical features of dHMN type V in families from different ethnic origins and backgrounds. We present the first cohort of family members of Nigerian descent with a novel heterozygous p.L272R variant on the GARS gene. We postulate that this variant is the cause of dHMN-V in this family, leading to variable phenotypical expressions that are earlier than reported in previous cases...
2018: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/29508455/treatment-of-autonomic-dysfunction-in-parkinson-disease-and-other-synucleinopathies
#12
REVIEW
Jose-Alberto Palma, Horacio Kaufmann
Dysfunction of the autonomic nervous system afflicts most patients with Parkinson disease and other synucleinopathies such as dementia with Lewy bodies, multiple system atrophy, and pure autonomic failure, reducing quality of life and increasing mortality. For example, gastrointestinal dysfunction can lead to impaired drug pharmacodynamics causing a worsening in motor symptoms, and neurogenic orthostatic hypotension can cause syncope, falls, and fractures. When recognized, autonomic problems can be treated, sometimes successfully...
March 2018: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/29485034/the-use-of-urodynamic-studies-for-the-followup-of-neurogenic-bladders-treated-with-onabotulinumtoxina
#13
Michelle Bergeron, Genevieve Nadeau, Katherine Moore
INTRODUCTION: Intradetrusor injections of onabotulinumtoxinA (BoNTA) is well-established as treatment for patients with neurogenic bladders. Urodynamics (UDS) are used at regular intervals during followup to monitor intravesical pressure. With regards to the discomfort and risks associated with UDS, our objective was to assess if UDS done at regular intervals in the followup of neurogenic bladders treated with BoNTA had an impact on management. METHODS: We retrospectively analyzed the medical records of adult patients with neurologic disorders treated with BoNTA for either detrusor overactivity or low bladder compliance at the Institut de Réadaptation en Déficience Physique de Québec (IRDPQ)...
February 23, 2018: Canadian Urological Association Journal, Journal de L'Association des Urologues du Canada
https://www.readbyqxmd.com/read/29485033/the-x-y-factor-females-and-males-with-urologic-chronic-pelvic-pain-syndrome-present-distinct-clinical-phenotypes
#14
Gregory William Hosier, R Christopher Doiron, Victoria Tolls, J Curtis Nickel
INTRODUCTION: Urological chronic pelvic pain syndrome (UCPPS) in females is often attributed to the bladder (interstitial cystitis/bladder pain syndrome), while UCPPS in males is often attributed to the prostate (chronic prostatitis/chronic pelvic pain syndrome). However, there is increasing awareness that bladder pain plays a role in both males and females and the degree of overlap of clinical characteristics in males and females with UCPPS is not well known. Our objective was to compare clinical phenotypes of females and males with UCPPS...
February 23, 2018: Canadian Urological Association Journal, Journal de L'Association des Urologues du Canada
https://www.readbyqxmd.com/read/29484772/regulatory-influence-of-sleep-and-epigenetics-on-adult-hippocampal-neurogenesis-and-cognitive-and-emotional-function
#15
REVIEW
Katherine G Akers, Yoan Chérasse, Yuki Fujita, Sakthivel Srinivasan, Takeshi Sakurai, Masanori Sakaguchi
Neural stem and progenitor cells continue to generate new neurons in particular regions of the brain during adulthood. One of these neurogenic regions is the dentate gyrus (DG) of the hippocampus, which plays an important role in cognition and emotion. By exploiting this innate neuronal regeneration mechanism in the DG, new technologies have the potential to promote resistance to or recovery from brain dysfunction or degeneration. However, a deeper understanding of how adult DG neurogenesis is regulated by factors such as sleep and epigenetic modifications of gene expression could lead to further breakthroughs in the clinical application of neural stem and progenitor cells...
February 27, 2018: Stem Cells
https://www.readbyqxmd.com/read/29484176/factors-that-influence-adult-neurogenesis-as-potential-therapy
#16
REVIEW
Belal Shohayeb, Mohamed Diab, Mazen Ahmed, Dominic Chi Hiung Ng
Adult neurogenesis involves persistent proliferative neuroprogenitor populations that reside within distinct regions of the brain. This phenomenon was first described over 50 years ago and it is now firmly established that new neurons are continually generated in distinct regions of the adult brain. The potential of enhancing the neurogenic process lies in improved brain cognition and neuronal plasticity particularly in the context of neuronal injury and neurodegenerative disorders. In addition, adult neurogenesis might also play a role in mood and affective disorders...
2018: Translational Neurodegeneration
https://www.readbyqxmd.com/read/29478604/spinal-and-bulbar-muscular-atrophy
#17
Andrew P Lieberman
Spinal and bulbar muscular atrophy (SBMA) is an adult-onset degenerative disorder of the neuromuscular system resulting in slowly progressive weakness and atrophy of the proximal limb and bulbar muscles. The disease is caused by the expansion of a CAG/glutamine tract in the amino-terminus of the androgen receptor. That SBMA exclusively affects males reflects the fact that critical pathogenic events are hormone-dependent. These include translocation of the polyglutamine androgen receptor from the cytoplasm to the nucleus and unfolding of the mutant protein...
2018: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/29470437/neurophysiological-assessment-of-abnormalities-of-the-neuromuscular-junction-in-children
#18
REVIEW
Matthew Pitt
The function of the neuromuscular junction in children is amenable to electrophysiological testing. Of the two tests available, repetitive nerve stimulation is uncomfortable and has a reduced sensitivity compared with single-fibre methodology. The latter is the method of choice, recording the variability in neuromuscular transmission as a value called jitter. It can be performed by voluntary activation of the muscle being examined, which is not suitable in children, or by stimulation techniques. A modification of these techniques, called Stimulated Potential Analysis with Concentric needle Electrodes (SPACE), is well tolerated and can be performed while the child is awake...
February 22, 2018: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29467763/functional-role-of-transient-receptor-potential-channels-in-immune-cells-and-epithelia
#19
REVIEW
Mohammad Khalil, Korina Alliger, Carl Weidinger, Cansu Yerinde, Stefan Wirtz, Christoph Becker, Matthias Agop Engel
Transient receptor potential (TRP) ion channels are widely expressed in several tissues throughout the mammalian organism. Originally, TRP channel physiology was focusing on its fundamental meaning in sensory neuronal function. Today, it is known that activation of several TRP ion channels in peptidergic neurons does not only result in neuropeptide release and consecutive neurogenic inflammation. Growing evidence demonstrates functional extra-neuronal TRP channel expression in immune and epithelial cells with important implications for mucosal immunology...
2018: Frontiers in Immunology
https://www.readbyqxmd.com/read/29455410/can-patients-with-symptomatic-tarlov-cysts-be-differentiated-from-patients-with-specific-low-back-pain-based-on-comprehensive-history-taking
#20
Maria Anna Hulens, Wim Dankaerts, Ricky Rasschaert, Frans Bruyninckx, Marie-Laure Willaert, Charlotte Vereecke, Greet Vansant
BACKGROUND: Tarlov cysts (TCs) are expanded nerve root sheaths that occur near the dorsal root ganglion and result from increased intraspinal hydrostatic pressure. TCs most frequently affect the lumbosacral plexus and therefore may cause specific symptoms such as perineal pain and neurogenic bladder, bowel, and sphincter problems. It has been estimated that 1% of the population has symptomatic Tarlov cysts (STCs). However, STCs appear to be underdiagnosed, with the pain reported by patients commonly attributed to degenerative alterations seen on MRI...
February 17, 2018: Acta Neurochirurgica
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