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Neuromuscular disease

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https://www.readbyqxmd.com/read/29236822/the-relative-frequency-of-common-neuromuscular-diagnoses-in-a-reference-center
#1
Ana Cotta, Júlia Filardi Paim, Elmano Carvalho, Antonio Lopes da-Cunha-Júnior, Monica M Navarro, Jaquelin Valicek, Miriam Melo Menezes, Simone Vilela Nunes, Rafael Xavier-Neto, Sidney Baptista, Luciano Romero Lima, Reinaldo Issao Takata, Antonio Pedro Vargas
The diagnostic procedure in neuromuscular patients is complex. Knowledge of the relative frequency of neuromuscular diseases within the investigated population is important to allow the neurologist to perform the most appropriate diagnostic tests. OBJECTIVE: To report the relative frequency of common neuromuscular diagnoses in a reference center. METHODS: A 17-year chart review of patients with suspicion of myopathy. RESULTS: Among 3,412 examinations, 1,603 (46...
November 2017: Arquivos de Neuro-psiquiatria
https://www.readbyqxmd.com/read/29230265/-juvenile-myasthenia-gravis-in-sub-saharan-africa-a-case-study-of-two-consanguine-sisters-born-from-consanguinity-in-togo
#2
Nidain Maneh, Kossivi Apetse, Bénédicte Marèbe Diatewa, Sidik Abou-Bakr Domingo, Aidé Isabelle Agba, Koffi Didier Ayena, Koffi Agnon Balogou, Komi Patrice Balo
Myasthenia gravis is a rare acquired autoimmune pathology causing neuromuscular transmission impairment. Juvenile onset of myasthenia gravis is often characterized by ocular involvement. We report two cases of ocular juvenile myasthenia gravis (JMG) in two siblings. They were two young girls, XA and XB, aged 11 and 9 years, of Malian origin, residing in Togo, born from first-degree of consanguinity presenting to Ophthalmology due to progressive decrease in visual acuity. XA showed visual acuity 8/10 on both eyes while XB showed improvement in visual acuity from 3/10 to 7/10 using a pinhole occluder, suggesting ametropia...
2017: Pan African Medical Journal
https://www.readbyqxmd.com/read/29226176/holistic-segmentation-of-the-lung-in-cine-mri
#3
William Kovacs, Nathan Hsieh, Holger Roth, Chioma Nnamdi-Emeratom, W Patricia Bandettini, Andrew Arai, Ami Mankodi, Ronald M Summers, Jianhua Yao
Duchenne muscular dystrophy (DMD) is a childhood-onset neuromuscular disease that results in the degeneration of muscle, starting in the extremities, before progressing to more vital areas, such as the lungs. Respiratory failure and pneumonia due to respiratory muscle weakness lead to hospitalization and early mortality. However, tracking the disease in this region can be difficult, as current methods are based on breathing tests and are incapable of distinguishing between muscle involvements. Cine MRI scans give insight into respiratory muscle movements, but the images suffer due to low spatial resolution and poor signal-to-noise ratio...
October 2017: Journal of Medical Imaging
https://www.readbyqxmd.com/read/29224255/the-highest-mortality-rates-in-childhood-dilated-cardiomyopathy-occur-during-the-first-year-after-diagnosis
#4
Shalan Fadl, Håkan Wåhlander, Katja Fall, Yang Cao, Jan Sunnegårdh
AIM: The aim of the study was to assess the incidence, mortality and morbidity of dilated cardiomyopathy (DCM) and non-compaction of the left ventricle (LVNC) in Swedish children. METHODS: We reviewed hospital records of all children with dilated cardiomyopathy (DCM) or left ventricular non-compaction cardiomyopathy (LVNC) up to the age of 18 in the healthcare region of western Sweden from 1991 to 2015. RESULTS: In total, 69 cases (61% males) were identified...
December 9, 2017: Acta Paediatrica
https://www.readbyqxmd.com/read/29223884/chronic-effect-of-different-types-of-stretching-on-ankle-dorsiflexion-range-of-motion-systematic-review-and-meta-analysis
#5
REVIEW
Diulian Muniz Medeiros, Tamara Fenner Martini
The calf muscles are one of the muscle groups that have the most need for adequate flexibility since they are deeply related to normal lower limb function. When the goal is to increase flexibility, the most commonly used technique is stretching. However, it remains unknown which stretching technique and parameters are the most effective to increase flexibility. Hence, the aim of the current review was to investigate the influence of chronic stretching on ankle dorsiflexion range of motion (DFROM) of healthy individuals...
October 27, 2017: Foot
https://www.readbyqxmd.com/read/29222416/functional-analysis-of-human-intrafusal-fiber-innervation-by-human-%C3%AE-motoneurons
#6
A Colón, X Guo, N Akanda, Y Cai, J J Hickman
Investigation of neuromuscular deficits and diseases such as SMA, as well as for next generation prosthetics, utilizing in vitro phenotypic models would benefit from the development of a functional neuromuscular reflex arc. The neuromuscular reflex arc is the system that integrates the proprioceptive information for muscle length and activity (sensory afferent), to modify motoneuron output to achieve graded muscle contraction (actuation efferent). The sensory portion of the arc is composed of proprioceptive sensory neurons and the muscle spindle, which is embedded in the muscle tissue and composed of intrafusal fibers...
December 8, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29221139/epstein-barr-virus-in-tumor-infiltrating-b-cells-of-myasthenia-gravis-thymoma-an-innocent-bystander-or-an-autoimmunity-mediator
#7
Paola Cavalcante, Stefania Marcuzzo, Sara Franzi, Barbara Galbardi, Lorenzo Maggi, Teresio Motta, Raffaella Ghislandi, Antonella Buzzi, Luisella Spinelli, Lorenzo Novellino, Fulvio Baggi, Carlo Antozzi, Fabio Conforti, Tommaso Martino De Pas, Massimo Barberis, Pia Bernasconi, Renato Mantegazza
The thymus plays a key role in myasthenia gravis (MG), a B cell-mediated autoimmune disorder affecting neuromuscular junction. Most MG patients have thymic abnormalities, including hyperplasia and thymoma, a neoplasm of thymic epithelial cells. Epstein-Barr virus (EBV) is associated with autoimmune diseases and tumors. Recently, we showed EBV persistence and reactivation in hyperplastic MG thymuses, suggesting that EBV might contribute to intra-thymic B cell dysregulation in MG patients. Here, we investigated EBV involvement in thymoma-associated MG, by searching for EBV markers in MG (n=26) and non-MG (n=14) thymomas...
November 10, 2017: Oncotarget
https://www.readbyqxmd.com/read/29220099/supportive-palliative-care-should-be-integrated-into-routine-care-for-paediatric-patients-with-life-limiting-kidney-disease
#8
REVIEW
Julia Thumfart, Tobias Reindl, Cornelia Rheinlaender, Dominik Müller
AIM: Paediatric palliative care is no longer restricted to patients with cancer and has been extended to patients with other chronic conditions, such as cystic fibrosis or neuromuscular disorders. This review focused on the current state of palliative care for children and adolescents with chronic kidney disease (CKD). METHOD: We assessed the literature on CKD published up to August 2017. All the papers, except one from 1996, were published this century. This review discusses the role that palliative care plays in the process of decision-making and explores the possibilities of implementing palliative care into the routine therapy of affected patients and providing support for their families...
December 8, 2017: Acta Paediatrica
https://www.readbyqxmd.com/read/29219952/early-onset-posterior-subscapular-cataract-in-a-series-of-myotonic-dystrophy-type-2-patients
#9
C Papadopoulos, K Kekou, S Xirou, S Kitsiou-Tzeli, E Kararizou, G K Papadimas
PurposeEarly onset posterior subscapular cataract (<50 years of age) is a characteristic feature of myotonic dystrophy type 2 (DM2). Nevertheless, despite being operated at a young age, many patients remain undiagnosed for years. The purpose of this study was to assess the prevalence of early onset posterior subscapular cataract as a presenting symptom of the disease in a cohort of patients with DM2.Patients and methodsWe retrospectively reviewed medical records of DM2 patients followed in our institution for the presence of early onset posterior subscapular cataract, of any secondary causes of cataract, of the age of onset of muscle weakness and of final disease diagnosis...
December 8, 2017: Eye
https://www.readbyqxmd.com/read/29218257/pulmonary-tuberculosis-versus-recurrent-chemotherapy-induced-pneumonitis-a-clinical-dilemma
#10
Gulrayz Ahmed, Muhammad W Saif
Chemotherapy-induced lung toxicity can affect pulmonary parenchyma, pleura, airways, pulmonary vascular system, mediastinum or the neuromuscular system that is responsible for respiration. Chemotherapy-induced pulmonary toxicity is a diagnosis of exclusion. When the patients with malignancies develop pulmonary toxicity such as pneumonitis and distinguishing it from alternative diseases such as infectious, thrombotic, cardiac, malignant or exacerbation of chronic lung conditions can be difficult. Moreover, such patients are often immunosuppressed, physically stressed from the underlying disease and the cancer treatment and hence, more susceptible to usual and unusual or opportunistic infections...
October 4, 2017: Curēus
https://www.readbyqxmd.com/read/29214567/natural-history-trial-readiness-and-gene-discovery-advances-in-patient-registries-for-neuromuscular-disease
#11
Rachel Thompson, Agata Robertson, Hanns Lochmüller
Inherited neuromuscular diseases (NMDs) are genetic disorders that affect the skeletal muscles or the nerves controlling muscle function. With a new generation of diagnostic options and recent advances in translational research improving the opportunities for therapy development for these rare conditions, capturing patient information in databases collecting a range of clinical and genetic data together with contact details has assumed an increasingly important role in trial planning and recruitment as well as natural history data collection...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/29211921/infections-and-the-relationship-to-treatment-in-neuromuscular-autoimmunity
#12
Devin E Prior, Emily Nurre, Stephanie L Roller, David Kline, Ramit Panara, Amro M Stino, John A Davis, Miriam L Freimer, W David Arnold
INTRODUCTION: This study aimed to identify infections in patients with myasthenia gravis, dermatomyositis and chronic inflammatory demyelinating polyradiculoneuropathy and investigate the relationship between infection and immunomodulation. METHODS: A retrospective chart review examined 631 patients with myasthenia gravis (n=358), chronic inflammatory demyelinating polyradiculoneuropathy (n=124), and dermatomyositis (n=149) patients over a 10 year time period. RESULTS: Infection rates were similar at approximately 19% in all three diseases...
December 6, 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/29211846/slc25a10-biallelic-mutations-in-intractable-epileptic-encephalopathy-with-complex-i-deficiency
#13
Giuseppe Punzi, Vito Porcelli, Matteo Ruggiu, Faruk Hossain, Alessio Menga, Pasquale Scarcia, Alessandra Castegna, Ruggiero Gorgoglione, Ciro L Pierri, Luna Laera, Francesco M Lasorsa, Eleonora Paradies, Isabella Pisano, Carlo M T Marobbio, Eleonora Lamantea, Daniele Ghezzi, Valeria Tiranti, Sergio Giannattasio, Maria A Donati, Renzo Guerrini, Luigi Palmieri, Ferdinando Palmieri, Anna De Grassi
Mitochondrial diseases are a plethora of inherited neuromuscular disorders sharing defects in mitochondrial respiration, but largely different from one another for genetic basis and pathogenic mechanism. Whole exome sequencing was performed in a familiar trio (trio-WES) with a child affected by severe epileptic encephalopathy associated to respiratory complex I deficiency and mitochondrial DNA depletion in skeletal muscle. By trio-WES we identified biallelic mutations in SLC25A10, a nuclear gene encoding a member of the mitochondrial carrier family...
December 1, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/29210997/tempol-supplementation-restores-diaphragm-force-and-metabolic-enzyme-activities-in-mdx-mice
#14
David P Burns, Izza Ali, Clement Rieux, James Healy, Greg Jasionek, Ken D O'Halloran
Duchenne muscular dystrophy (DMD) is characterized by striated muscle weakness, cardiomyopathy, and respiratory failure. Since oxidative stress is recognized as a secondary pathology in DMD, the efficacy of antioxidant intervention, using the superoxide scavenger tempol, was examined on functional and biochemical status of dystrophin-deficient diaphragm muscle. Diaphragm muscle function was assessed, ex vivo, in adult male wild-type and dystrophin-deficient mdx mice, with and without a 14-day antioxidant intervention...
December 6, 2017: Antioxidants (Basel, Switzerland)
https://www.readbyqxmd.com/read/29210719/neuromodulatory-burst-therapy-for-agent-orange-induced-peripheral-neuropathy-a-case-report
#15
Roxanna Rasekhi, Danielle Babb, Chane Price
The prevalence of neuromuscular diseases and peripheral neuropathies in veterans exposed to Agent Orange (AO) is particularly high. Pharmacologic management has not been effective for these patients. Burst therapy spinal cord stimulation (SCS), recently approved for use in the United States, has had demonstrable success in both Europe and Australia. We present a patient with AO-induced peripheral neuropathy who was successfully treated with burst SCS. To our knowledge, this is the first report describing the use of burst SCS for treatment of peripheral neuropathy related to AO exposure...
November 27, 2017: A & A Case Reports
https://www.readbyqxmd.com/read/29209388/a-genome-wide-association-study-identifies-utrn-gene-polymorphism-for-restless-legs-syndrome-in-a-korean-population
#16
Chul-Hyun Cho, Ji-Hye Choi, Seung-Gul Kang, Ho-Kyoung Yoon, Young-Min Park, Joung-Ho Moon, Ki-Young Jung, Jin-Kyu Han, Hong-Bum Shin, Hyun Ji Noh, Yong Seo Koo, Leen Kim, Hyun Goo Woo, Heon-Jeong Lee
Objective: Restless legs syndrome (RLS) is a highly heritable and common neurological sensorimotor disease disturbing sleep. The objective of study was to investigate significant gene for RLS by performing GWA and replication study in a Korean population. Methods: We performed a GWA study for RLS symptom group (n=325) and non-RLS group (n=2,603) from the Korea Genome Epidemiology Study. We subsequently performed a replication study in RLS and normal controls (227 RLS and 229 controls) to confirm the present GWA study findings as well as previous GWA study results...
November 2017: Psychiatry Investigation
https://www.readbyqxmd.com/read/29208755/home-mechanical-ventilation-a-12-year-population-based-retrospective-cohort-study
#17
Marcus Povitz, Louise Rose, Salimah Z Shariff, Sean Leonard, Blayne Welk, Krista Bray Jenkyn, David J Leasa, Andrea S Gershon
BACKGROUND: Increasing numbers of individuals are being initiated on home mechanical ventilation, including noninvasive (bi-level) and invasive mechanical ventilation delivered via tracheostomy due to chronic respiratory failure to enable symptom management and promote quality of life. Given the high care needs of these individuals, a better understanding of the indications for home mechanical ventilation, and health-care utilization is needed. METHODS: We performed a retrospective cohort study using provincial health administrative data from Ontario, Canada (population ∼13,000,000)...
December 5, 2017: Respiratory Care
https://www.readbyqxmd.com/read/29208343/single-center-experience-with-intrathecal-administration-of-nusinersen-in-children-with-spinal-muscular-atrophy-type-1
#18
Astrid Pechmann, Thorsten Langer, Sabine Wider, Janbernd Kirschner
BACKGROUND: Spinal muscular atrophy (SMA) is a neuromuscular disorder mainly characterized by proximal muscle weakness. There have been enormous advances in therapeutic development with the possibility to influence the clinical course of the disease. Nusinersen is the first approved drug to treat SMA. It is administered intrathecally and acts as splicing modifier of the SMN2 gene. METHODS: Lumbar punctures were performed using a standardized protocol. To evaluate safety and feasibility of the intrathecal treatment, vital signs and the need for sedation, analgesia or mechanical ventilation during the procedure were monitored...
November 21, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/29205338/s1p-receptor-antagonists-fingolimod-and-siponimod-do-not-improve-the-outcome-of-experimental-autoimmune-myasthenia-gravis-mice-after-disease-onset
#19
Andreas Pelz, Hanne Schaffert, Radharani Diallo, Falk Hiepe, Andreas Meisel, Siegfried Kohler
Myasthenia gravis (MG) is an autoimmune disease characterized by muscle weakness and fatigue in the presence of circulating antibodies against components of the neuromuscular junction. Most patients have a good prognosis, but some are refractory to standard-of-care immunosuppressive treatment and suffer from recurrent myasthenic crises. Functional sphingosine-1-phosphate (S1P) antagonists like fingolimod and siponimod (BAF312) are successfully used for the treatment of multiple sclerosis, and fingolimod was shown to prevent the development of myasthenic symptoms in experimental autoimmune myasthenia gravis (EAMG), the standard model of MG...
December 4, 2017: European Journal of Immunology
https://www.readbyqxmd.com/read/29203592/correction-of-gsk3%C3%AE-at-young-age-prevents-muscle-pathology-in-mice-with-myotonic-dystrophy-type-1
#20
Christina Wei, Lauren Stock, Leila Valanejad, Zachary A Zalewski, Rebekah Karns, Jack Puymirat, David Nelson, David Witte, Jim Woodgett, Nikolai A Timchenko, Lubov Timchenko
Myotonic dystrophy type 1 (DM1) is a progressive neuromuscular disease caused by expanded CUG repeats, which misregulate RNA metabolism through several RNA-binding proteins, including CUG-binding protein/CUGBP1 elav-like factor 1 (CUGBP1/CELF1) and muscleblind 1 protein. Mutant CUG repeats elevate CUGBP1 and alter CUGBP1 activity via a glycogen synthase kinase 3β (GSK3β)-cyclin D3-cyclin D-dependent kinase 4 (CDK4) signaling pathway. Inhibition of GSK3β corrects abnormal activity of CUGBP1 in DM1 mice [human skeletal actin mRNA, containing long repeats (HSALR ) model]...
December 4, 2017: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
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