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https://www.readbyqxmd.com/read/29653221/an-atypical-phenotype-of-a-patient-with-infantile-spinal-muscular-atrophy-with-respiratory-distress-type-1-smard-1
#1
Shuiyan Wu, Ting Chen, Ying Li, Linqi Chen, Qiuqin Xu, Fei Xiao, Zhenjiang Bai
Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is a rare autosomal recessive disease characterized by infancy-onset diaphragmatic palsy and symmetrical distal muscular weakness. SMARD1 is caused by loss-of-function mutations in IGHMBP2 gene. In this article, we report a male SMARD1 patient with two compound heterozygous mutations (NM_002180.2: c.688C > G; p.(Gln230Glu)) and (NM_002180.2: c.1737C > A; p.(Phe579Leu)), one of which (c.688C > G; ClinVar accession: SUB3344743: SCV000612189) is novel...
April 10, 2018: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29642493/effects-of-tdcs-on-real-time-bci-detection-of-pedaling-motor-imagery
#2
Maria de la Soledad Rodriguez-Ugarte, Eduardo Iáñez, Mario Ortiz-Garcia, José M Azorín
The purpose of this work is to strengthen the cortical excitability over the primary motor cortex (M1) and the cerebro-cerebellar pathway by means of a new transcranial direct current stimulation (tDCS) configuration to detect lower limb motor imagery (MI) in real time using two different cognitive neural states: relax and pedaling MI. The anode is located over the primary motor cortex in Cz, and the cathode over the right cerebro-cerebellum. The real-time brain-computer interface (BCI) designed is based on finding, for each electrode selected, the power at the particular frequency where the most difference between the two mental tasks is observed...
April 8, 2018: Sensors
https://www.readbyqxmd.com/read/29552983/octopus-endograft-technique-to-treat-a-ruptured-thoracoabdominal-aortic-aneurysm
#3
Zilun Li, Henghui Yin, Mian Wang, Ridong Wu, Chenshu Liu, Chen Yao, Guangqi Chang
PURPOSE: To report the use of the octopus endograft technique to treat a patient with a ruptured thoracoabdominal aortic aneurysm (TAAA). CASE REPORT: A 46-year-old man was diagnosed with a contained rupture of a 9-cm type V TAAA. The presence of an occluded superior mesenteric artery (SMA), a stenotic celiac trunk, an enlarged inferior mesenteric artery (IMA), and rich collaterals with the SMA and celiac trunk made endovascular repair with the octopus endograft technique appear feasible...
April 2018: Journal of Endovascular Therapy
https://www.readbyqxmd.com/read/29548594/early-reperfusion-strategy-improves-the-outcomes-of-surgery-for-type-a-acute-aortic-dissection-with-malperfusion
#4
Keiji Uchida, Norihisa Karube, Keiichiro Kasama, Tomokazu Minami, Shota Yasuda, Motohiko Goda, Shinichi Suzuki, Kiyotaka Imoto, Munetaka Masuda
OBJECTIVE: The control of malperfusion is the key to improving the outcomes of surgery for type A acute aortic dissection. We revised our treatment strategy to reperfuse each ischemic organ before central repair. METHODS: Our current early reperfusion strategy consists of percutaneous coronary artery intervention for coronary malperfusion, direct surgical fenestration for carotid artery occlusion, active perfusion of the superior mesenteric artery for visceral malperfusion, and external shunting from the brachial artery to the femoral artery for lower limb ischemia...
February 13, 2018: Journal of Thoracic and Cardiovascular Surgery
https://www.readbyqxmd.com/read/29493298/phenotypic-and-genotypic-studies-of-als-cases-in-als-sma-families
#5
Philippe Corcia, Patrick Vourc'h, Helene Blasco, Philippe Couratier, Audrey Dangoumau, Remi Bellance, Claude Desnuelle, Fausto Viader, Vivien Pautot, Stephanie Millecamps, Salah Bakkouche, FranÇois Salachas, Christian R Andres, Vincent Meininger, William Camu
BACKGROUND: Amyotrophic lateral sclerosis (ALS) and spinal muscular atrophy (SMA) are the most frequent motor neuron disorders in adulthood and infancy, respectively. There is a growing literature supporting common pathophysiological patterns between those disorders. One important clinical issue for that is the co-occurrence of both diseases within a family. OBJECTIVES: To collect families in which ALS and SMA patients co-exist and describe the phenotype and the genotype of ALS patients...
March 1, 2018: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
https://www.readbyqxmd.com/read/29390334/degeneration-of-the-corticofugal-tract-from-the-secondary-motor-area-in-a-parkinson-s-disease-patient-with-limb-kinetic-apraxia-a-case-report
#6
Han Do Lee, Min Cheol Chang
RATIONALE: In this case report, we describe a Parkinson's disease (PD) patient with limb-kinetic apraxia (LKA) in whom degeneration of the corticofugal tract (CFT) from the supplementary motor area (SMA) was observed in diffusion tensor tractography (DTT). PATIENT CONCERNS: A 63-year-old woman presented with a loss of dexterity in both upper extremities, which indicated LKA, and typical PD-related symptoms, including a gait disturbance with a short step, resting tremor in both upper extremities, and rigidity, and these symptoms had been present for 2 years...
December 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29334674/relationship-between-jumping-abilities-and-skeletal-muscle-architecture-of-lower-limbs-in-humans-systematic-review-and-meta-analysis
#7
J D Ruiz-Cárdenas, J J Rodríguez-Juan, J Ríos-Díaz
The aim of this study was to examine the influence of skeletal muscle architecture (SMA) features measured by 2-D ultrasonography on jumping performance in humans. A systematic review and meta-analysis was conducted, registry number: CRD42016043602. The scientific literature was systematically searched in eight databases, last run on March 14th, 2017. Cross-sectional studies focused on the association between SMA features and vertical jumping performance were selected. A random-effects model was used to analyze the influence of lower-limb SMA and maximal jump height...
April 2018: Human Movement Science
https://www.readbyqxmd.com/read/29326874/only-some-patients-with-bulbar-and-spinal-muscular-atrophy-may-develop-cardiac-disease
#8
Josef Finsterer, Claudia Stöllberger
Objectives: According to recent publications, some patients with spinal and bulbar muscular atrophy (BSMA) develop cardiac disease, manifesting as ST-segment abnormalities, Brugada-syndrome, dilative cardiomyopathy, or sudden cardiac death. Here we present neurological and cardiac data of a BSMA patient who was followed up for 10 y. Case report: In a male patient aged 47 y, BSMA was diagnosed at age 37 y upon the typical clinical presentation (postural tremor since age 12 y, dysarthria since age 15 y, muscle cramps since age 29 y, general myalgias since age 32 y, general fasciculations since age 34 y, myoclonic jerks, easy fatigability, dyspnea upon exercise since age 36 y) and a CAG-repeat expansion of 47 ± 1 repeats in the androgen-receptor gene detected at age 37 y...
March 2018: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/29306600/a-missense-mutation-in-dync1h1-gene-causing-spinal-muscular-atrophy-lower-extremity-dominant
#9
Joyutpal Das, James B Lilleker, Kavaldeep Jabbal, John Ealing
Spinal muscular atrophy (SMA) is a hereditary neuromuscular disorder, which causes progressive muscle weakness and in severe cases respiratory failure and death. Although the majority of the SMA cases are autosomal recessive, there is an autosomal dominant variant of SMA that primarily affects the lower extremities, known as 'spinal muscular atrophy - lower extremity, dominant' (SMALED). Mutations in the Dynein Cytoplasmic 1 Heavy Chain 1 (DYNC1H1) gene were the first to be associated with SMALED. Here we report a family with SMALED caused by a pathogenic heterozygous missense c...
March 2018: Neurologia i Neurochirurgia Polska
https://www.readbyqxmd.com/read/29229431/altered-neurocognitive-processing-of-tactile-stimuli-in-patients-with-complex-regional-pain-syndrome
#10
Anoop Kuttikat, Valdas Noreika, Srivas Chennu, Nicholas Shenker, Tristan Bekinschtein, Christopher A Brown
Chronic pain in complex regional pain syndrome (CRPS) has been linked to tactile misperceptions and deficits in somatotopic representation of the affected limb. In this study, we identify altered cognitive processing of tactile stimuli in CRPS patients that we propose marks heterogeneity in tactile decision-making mechanisms. In a case-control design, we compared middle- and late-latency somatosensory evoked potentials in response to pseudorandomized mechanical stimulation of the digits of both hands (including CRPS-affected and nonaffected sides) between 13 CRPS patients and 13 matched healthy controls...
December 8, 2017: Journal of Pain: Official Journal of the American Pain Society
https://www.readbyqxmd.com/read/29159074/only-some-patients-with-bulbar-and-spinal-muscular-atrophy-may-develop-cardiac-disease
#11
Josef Finsterer, Claudia Stöllberger
Objectives: According to recent publications, some patients with spinal and bulbar muscular atrophy (BSMA) develop cardiac disease, manifesting as ST-segment abnormalities, Brugada-syndrome, dilative cardiomyopathy, or sudden cardiac death. Here we present neurological and cardiac data of a BSMA patient who was followed up for 10 y. Case report: In a male patient aged 47 y, BSMA was diagnosed at age 37 y upon the typical clinical presentation (postural tremor since age 12 y, dysarthria since age 15 y, muscle cramps since age 29 y, general myalgias since age 32 y, general fasciculations since age 34 y, myoclonic jerks, easy fatigability, dyspnea upon exercise since age 36 y) and a CAG-repeat expansion of 47 ± 1 repeats in the androgen-receptor gene detected at age 37 y...
March 2018: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/29104110/pseudomyogenic-hemangioendothelioma-of-skin-bone-and-soft-tissue-a-clinicopathological-immunohistochemical-and-fluorescence-in-situ-hybridization-study
#12
Dinesh Pradhan, Karen Schoedel, Richard L McGough, Sarangarajan Ranganathan, Uma N M Rao
Pseudomyogenic hemangioendothelioma (PHE) is an uncommon neoplasm with propensity for local recurrence. The tumor mimics epithelioid hemangioendothelioma and epithelioid sarcoma, representing a possible diagnostic pitfall. We investigated the clinicopathological, immunohistochemical, and fluorescence in situ hybridization features of PHEs. Eight cases of PHE were retrieved from our pathology archives. The clinical and outcome information was available in 6 patients. In 6 cases, the tumors were located in the lower limb, whereas the upper limb was involved in 2 cases...
January 2018: Human Pathology
https://www.readbyqxmd.com/read/29062563/segmental-spinal-muscular-atrophy-localised-to-the-lower-limbs-first-case-from-oman
#13
Roshan Koul, Amna Al-Futaisi, Khalid Al-Thihli, Zandre Bruwer, Patrick Scott
Spinal muscular atrophy (SMA) is a genetic lower motor neuron disease. It usually involves all of the skeletal muscles innervated by the anterior horn cells of the spinal cord. In rare cases, there is also localised involvement of the spinal cord. We report a 10-year-old boy who presented to the Sultan Qaboos University Hospital, Muscat, Oman, in 2015 with muscle weakness restricted to the lower limbs. The presence of a homozygous deletion within the survival of motor neuron 1 gene confirmed the diagnosis of SMA...
August 2017: Sultan Qaboos University Medical Journal
https://www.readbyqxmd.com/read/28790028/staged-retroperitoneal-mesenteric-revascularisation-and-aortobifemoral-bypass-after-endovascular-rescue-for-acute-mesenteric-ischaemia
#14
Shepard Peir Johnson, Melani Lighter, Harry Linne Anderson, Abdulhameed Aziz
Visceral artery revascularisation through a retroperitoneal approach provides an infrequent yet viable, alternative means of managing mesenteric ischaemia in patients with previous abdominal operations. We present a unique case implementing this surgical approach in a 55-year-old man in which we performed a retroperitoneal aortobifemoral bypass with concomitant retrograde jump graft from the aortic prosthesis to the superior mesenteric artery (SMA) for bilateral lower extremity rest pain and chronic mesenteric ischaemia...
August 8, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28483615/severe-mesenteric-ischemia-in-a-pregnant-woman-with-antiphospholipid-syndrome
#15
Andrea Padricelli, Anna Maria Giribono, Doriana Ferrara, Flavia Spalla, Umberto Bracale, Luca Del Guercio, Giuseppe Servillo, Carlo Ruotolo, Umberto Marcello Bracale
The antiphospholipid syndrome (APS), either primary or secondary form, is considered an autoimmune disease with the presence of at least 1 clinical and 1 laboratory abnormalities as defined by the Sydney criteria. Clinical criteria include vascular thrombosis of venous, artery, small vessel in any organ, and recurrent pregnancy pathologies. Mesenteric ischemia is a rare and threatening manifestation of APS. We herein report a case of a 34-year-old pregnant woman referred to our Emergency Room with thoracic and abdominal acute pain...
October 2017: Annals of Vascular Surgery
https://www.readbyqxmd.com/read/28457650/orthostatic-myoclonus-after-brain-tumor-radiation-insights-from-two-lesional-cases
#16
Jeremy K Cutsforth-Gregory, Julie E Hammack, Joseph Y Matsumoto
INTRODUCTION: Orthostatic myoclonus (OM) is a recognized syndrome of gait unsteadiness accompanied by lower limb myoclonus provoked by the assumption of an upright posture. OM typically affects the elderly and is often associated with neurodegenerative disease. We sought to review the clinical and electrophysiologic characteristics of OM due to brain tumor treatment, the first reported lesional cases of this rare disorder. METHODS: The database of the Mayo Clinic Rochester Movement Disorders Laboratory was searched for all patients diagnosed with OM from January 2007 to December 2016...
April 26, 2017: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/28449880/benign-focal-amyotrophy
#17
REVIEW
P Cintas
Within lower motor neuron diseases, benign focal amyotrophy is a rare syndrome characterized by insidious neurogenic asymmetric atrophy restricted to upper or lower limbs with a good prognosis over time. Described under several terms, the nosology is probably heterogeneous. In juvenile distal upper-limbs forms, specific MRI signs with in particular a compression of the spinal cord by forward displacement of dura, lead to evoke a mechanical process. In other forms, occurring later in the life, affecting proximal part of upper limbs or lower limbs, the physiopathology is still unknown and a focal spinal muscular atrophy is suspected...
May 2017: Revue Neurologique
https://www.readbyqxmd.com/read/28135676/horizontal-traumatic-laceration-of-the-pancreas-head-a-rare-case-report
#18
Atsushi Nanashima, Naoya Imamura, Yuki Tsuchimochi, Takeomi Hamada, Kouichi Yano, Masahide Hiyoshi, Yoshiro Fujii, Fumiaki Kawano, MitsuruTamura
INTRODUCTION: This case report is intended to inform acute care surgeons about treating rare horizontal laceration of the pancreas head caused by blunt trauma. CASE PRESENTATION: A 57-year-old woman who sustained blunt abdominal trauma during a car crash was transported to the emergency center of our hospital with unstable vital signs due to hemorrhagic shock. Computed tomography showed transection of the pancreas head and massive intra-abdominal hemorrhage. She was referred for emergency surgery because of a transient response...
2017: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/27807335/-clinical-features-of-a-genetically-identified-spinal-and-bulbar-muscular-atrophy-pedigree
#19
Zhe Wang, Qihua Chen, Qiuxiang Li, Fangfang Bi
Spinal and bulbar muscular atrophy (SBMA) is a rare X-linked motor neuron disease with significant phenotypic viability. Here, we present a genetically identified SBMA family without bulbar paralysis or androgen insensitivity. All four male patients presented with progressive lower motor neuron paralysis in all limbs, with distal extremities more dominant. None of them had bulbar palsy or androgen insensitivity. A consistently mild elevated blood creatine phosphokinase (CPK) levels were detected in all patients and the EMG showed a chronic neurogenic damage...
October 28, 2016: Zhong Nan da Xue Xue Bao. Yi Xue Ban, Journal of Central South University. Medical Sciences
https://www.readbyqxmd.com/read/27751653/recurrent-de-novo-bicd2-mutation-associated-with-arthrogryposis-multiplex-congenita-and-bilateral-perisylvian-polymicrogyria
#20
Gianina Ravenscroft, Nataliya Di Donato, Gabriele Hahn, Mark R Davis, Paul D Craven, Gemma Poke, Katherine R Neas, Teresa M Neuhann, William B Dobyns, Nigel G Laing
Autosomal dominantly inherited mutations of BICD2 are associated with congenital-onset spinal muscular atrophy characterised by lower limb predominance. A few cases have also showed upper motor neuron pathology, including presenting with features resembling hereditary spastic paraplegia. The age-of-onset for the published families is usually at birth but also included cases with childhood- and adult-onset disease. In this report we described two isolated probands that presented in utero with features associated with reduced fetal movements...
November 2016: Neuromuscular Disorders: NMD
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