keyword
MENU ▼
Read by QxMD icon Read
search

myopath

keyword
https://www.readbyqxmd.com/read/29331378/loss-of-zebrafish-smyd1a-interferes-with-myofibrillar-integrity-without-triggering-the-misfolded-myosin-response
#1
Christoph Paone, Steven Rudeck, Christelle Etard, Uwe Strähle, Wolfgang Rottbauer, Steffen Just
Sarcomeric protein turnover needs to be tightly balanced to assure proper assembly and renewal of sarcomeric units within muscle tissues. The mechanisms regulating these fundamental processes are only poorly understood, but of great clinical importance since many cardiac and skeletal muscle diseases are associated with defective sarcomeric organization. The SET- and MYND domain containing protein 1b (Smyd1b) is known to play a crucial role in myofibrillogenesis by functionally interacting with the myosin chaperones Unc45b and Hsp90α1...
January 10, 2018: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/29326002/prevalence-of-adult-pompe-disease-in-patients-with-proximal-myopathic-syndrome-and-undiagnosed-muscle-biopsy
#2
Amir Golsari, Arzoo Nasimzadah, Götz Thomalla, Sarah Keller, Christian Gerloff, Tim Magnus
We examined patients with limb-girdle muscle weakness and/or hyper-CKaemia and undiagnosed muscle biopsy for late onset Pompe disease (LOPD). Patients with an inconclusive limb-girdle muscle weakness who presented at our neuromuscular centre between 2005 and 2015 with undiagnosed muscle biopsies were examined by dry blood spot testing (DBS) including determination of the enzyme activity of acid alpha-glucosidase (GAA). In the case of depressed enzyme activity, additional gene testing of the GAA gene was carried out...
December 7, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29310369/mitochondrial-mutations-in-12s-rrna-and-16s-rrna-presenting-as-chronic-progressive-external-ophthalmoplegia-cpeo-plus-a-case-report
#3
Zhan-Yun Lv, Xue-Mei Xu, Xiao-Fu Cao, Qian Wang, Da-Fang Sun, Wen-Jing Tian, Yan Yang, Yu-Zhong Wang, Yan-Lei Hao
RATIONALE: Chronic progressive external ophthalmoplegia (CPEO) is a classical mitochondrial ocular disorder characterized by bilateral progressive ptosis and ophthalmoplegia. Kearns -Sayre syndrome (KSS) is a multisystem disorder with PEO, cardiac conduction block, and pigmentary retinopathy. A few individuals with CPEO have other manifestations of KSS, but do not meet all the clinical diagnosis criteria, and this is called "CPEO plus." PATIENT CONCERNS: We report a 48-year-old woman exhibiting limb weakness, ptosis, ophthalmoparesis, and cerebellar dysfunctions...
December 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29230129/paraneoplastic-cardiac-involvement-in-renal-cell-carcinoma-with-dermatomyositis-sine-dermatitis
#4
Htoo Kyaw, Atif Z Shaikh, Cesar Ayala-Rodriguez, Misra Deepika
Background: Dermatomyositis is an idiopathic inflammatory myopathy that has been established as one of the many paraneoplastic phenomena. Cardiac involvement can occur with dermatomyositis but has rarely been reported in the literature because symptoms are usually subclinical. Case Report: A 72-year-old female presented with generalized weakness for 1 month after a recent diagnosis of renal cell carcinoma. Her weakness was attributed to a myopathic process that was identified as dermatomyositis after muscle biopsy...
2017: Ochsner Journal
https://www.readbyqxmd.com/read/29223996/metabolic-myopathies-a-practical-approach
#5
REVIEW
James B Lilleker, Yann Shern Keh, Federico Roncaroli, Reena Sharma, Mark Roberts
Metabolic myopathies are a diverse group of rare genetic disorders and their associated muscle symptoms may be subtle. Patients may present with indolent myopathic features, exercise intolerance or recurrent rhabdomyolysis. Diagnostic delays are common and clinicians need a high index of suspicion to recognise and differentiate metabolic myopathies from other conditions that present in a similar fashion. Standard laboratory tests may be normal or non-specific, particularly between symptomatic episodes. Targeted enzyme activity measurement and next-generation genetic sequencing are increasingly used...
December 9, 2017: Practical Neurology
https://www.readbyqxmd.com/read/29210098/regional-gastrointestinal-contractility-parameters-using-the-wireless-motility-capsule-inter-observer-reproducibility-and-influence-of-age-gender-and-study-country
#6
A D Farmer, A-M L Wegeberg, B Brock, A R Hobson, S D Mohammed, S M Scott, C E Bruckner-Holt, J R Semler, W L Hasler, P M Hellström, A M Drewes, C Brock
BACKGROUND: The wireless motility capsule concurrently measures temperature, pH and pressure as it traverses the gastrointestinal tract. AIMS: To describe normative values for motility/contractility parameters across age, gender and testing centres. METHODS: Healthy participants underwent a standardised wireless motility capsule assessment following an overnight fast and consumption of a meal of known nutritional content. Traces were divided into regions of interest and analysed using 2 software packages (MotiliGI and GIMS Data Viewer)...
December 6, 2017: Alimentary Pharmacology & Therapeutics
https://www.readbyqxmd.com/read/29209666/novel-duplication-mutation-of-the-dysf-gene-in-a-pakistani-family-with-miyoshi-myopathy
#7
Muhammad I Ullah, Arsalan Ahmad, Milena Zarkovic, Syed S Shah, Abdul Nasir, Saqib Mahmood, Wasim Ahmad, Christian A Hubner, Muhammad J Hassan
To identify the underlying gene mutation in a large consanguineous Pakistani family.  Methods: This is an observational descriptive study carried out at the Department of Biochemistry, Shifa International Hospital, Quaid-i-Azam University, and Atta-ur-Rahman School of Applied Biosciences, National University of Sciences and Technology, Islamabad, Pakistan from 2013-2016. Genomic DNA of all recruited family members was extracted and the Trusight one sequencing panel was used to assess genes associated with a neuro-muscular phenotype...
December 2017: Saudi Medical Journal
https://www.readbyqxmd.com/read/29195113/a-case-of-multiple-sclerosis-and-necrotizing-autoimmune-myopathy-with-anti-srp-antibodies
#8
Antonio Marangi, Alberto Gajofatto, Damiano Marastoni, Francesca Gobbin, Flavio Guiotto, Paola Tonin, Maria Donata Benedetti
Only few reports exist regarding the coexistence of multiple sclerosis (MS) and autoimmune myopathies. We describe the case of a man with a long history of undiagnosed left lower limb motor impairment who was hospitalized for subacute onset of a myopathic syndrome. In addition, neurological examination revealed sensory impairment and pyramidal signs in the left limbs. Muscle biopsy revealed a necrotizing myopathy and serum anti-signal recognition particle (SRP) antibodies were found. Brain and spinal cord MRI displayed several non-enhancing demyelinating lesions, and CSF-restricted oligoclonal bands were detected...
November 23, 2017: Multiple Sclerosis and related Disorders
https://www.readbyqxmd.com/read/29173062/tk2-related-myopathic-mitochondrial-depletion-syndrome
#9
Josef Finsterer, Sinda Zarrouk-Mahjoub
No abstract text is available yet for this article.
January 1, 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/29173060/author-s-reply-tk2-related-myopathic-mitochondrial-depletion-syndrome
#10
Elena Martín-Hernández, Francisco Martínez-Azorín
No abstract text is available yet for this article.
January 1, 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/29169929/compound-heterozygous-ryr1-mutations-in-a-preterm-with-arthrogryposis-multiplex-congenita-and-prenatal-cns-bleeding
#11
Florian Brackmann, Matthias Türk, Nils Gratzki, Oliver Rompel, Heinz Jungbluth, Rolf Schröder, Regina Trollmann
RYR1 mutations, the most common cause of non-dystrophic neuromuscular disorders, are associated with the malignant hyperthermia susceptibility (MHS) trait as well as congenital myopathies with widely variable clinical and histopathological manifestations. Recently, bleeding anomalies have been reported in association with certain RYR1 mutations. Here we report a preterm infant born at 32 weeks gestation with arthrogryposis multiplex congenita due to compound heterozygous, previously MHS-associated RYR1 mutations, with additional signs of prenatal hemorrhage...
September 28, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29159461/severe-hyperammonemic-encephalopathy-requiring-dialysis-aggravated-by-prolonged-fasting-and-intermittent-high-fat-load-in-a-ramadan-fasting-month-in-a-patient-with-cptii-homozygous-mutation
#12
P Phowthongkum, C Ittiwut, V Shotelersuk
BACKGROUND: Carnitine palmitoyltransferase II (CPTII) deficiency is a mitochondrial fatty acid oxidation disorder that can present antenatally as congenital brain malformations, or postnatally with lethal neonatal, severe infantile, or the most common adult myopathic forms. No case of severe hyperammonemia without liver dysfunction has been reported. CASE PRESENTATION: We described a 23-year-old man who presented to the emergency department with seizures and was found to have markedly elevation of serum ammonia...
November 21, 2017: JIMD Reports
https://www.readbyqxmd.com/read/29159459/epg5-related-vici-syndrome-a-primary-defect-of-autophagic-regulation-with-an-emerging-phenotype-overlapping-with-mitochondrial-disorders
#13
Shanti Balasubramaniam, Lisa G Riley, Anand Vasudevan, Mark J Cowley, Velimir Gayevskiy, Carolyn M Sue, Caitlin Edwards, Edward Edkins, Reimar Junckerstorff, C Kiraly-Borri, P Rowe, J Christodoulou
Vici syndrome is a rare, under-recognised, relentlessly progressive congenital multisystem disorder characterised by five principal features of callosal agenesis, cataracts, cardiomyopathy, combined immunodeficiency and oculocutaneous hypopigmentation. In addition, three equally consistent features (profound developmental delay, progressive failure to thrive and acquired microcephaly) are highly supportive of the diagnosis. Since its recognition as a distinct entity in 1988, an extended phenotype with sensorineural hearing loss, skeletal myopathy and variable involvement of virtually any organ system, including the lungs, thyroid, liver and kidneys, have been described...
November 21, 2017: JIMD Reports
https://www.readbyqxmd.com/read/29153022/-rhabdomyolysis-may-it-be-a-metabolic-myopathy-case-report-and-diagnostic-algorithm
#14
Ágnes Sebők, Endre Pál, Gergő Attila Molnár, István Wittmann, Judit Berenténé Bene, Béla Melegh, Sámuel Komoly, Tibor Hidvégi, Lídia Balogh, Attila Szabó, Petra Zsidegh
We report the case of a 46-year-old female patient with recurrent rhabdomyolysis. In the background of her metabolic myopathy an inherited metabolic disorder of the fatty acid oxidation, very long-chain acyl-coenzyme A-dehydrogenase deficiency was diagnosed. The diagnosis was based on abnormal acyl-carnitine- and urine organic-acid profile in addition to low residual enzyme activity, and was confirmed by genetic testing. After introduction of dietotherapy metabolic crisis necessitating hospital admission has not occurred neither have fixed myopathic changes developed...
November 2017: Orvosi Hetilap
https://www.readbyqxmd.com/read/29148930/use-of-mixed-oil-fat-emulsion-to-improve-intestinal-failure-associated-liver-disease-in-long-term-home-parenteral-nutrition-a-case-report
#15
Ryan T Hurt, Manpreet S Mundi
Home parenteral nutrition (HPN) is a life-saving therapy for patients who are not able to use their gastrointestinal tract. There are a number of complications associated with HPN, including metabolic bone disease, intestinal failure-associated liver disease (IFALD), and catheter-related bloodstream infections. We present a case of a 32-year-old HPN patient who initially developed biopsy-proven IFALD (total bilirubin, 2.4 mg/dL) while on long-term HPN. His HPN was initiated due to myopathic intestinal dysmotility and pseudo-obstruction when he was 15 years old...
November 2017: JPEN. Journal of Parenteral and Enteral Nutrition
https://www.readbyqxmd.com/read/29143179/diagnostic-work-up-in-steroid-myopathy
#16
REVIEW
Marco Alessandro Minetto, Valentina D'Angelo, Emanuela Arvat, Santosh Kesari
INTRODUCTION: Steroid myopathy is a well-known sign of endogenous Cushing's syndrome as well as a side effect of glucocorticoid administration. The clinical finding of muscle weakness and the clinical inspection of the muscle size are the most commonly used diagnostic tools, sometimes in combination with needle electromyography, but there are no means to detect the myopathy before the appearance of clinical or electrodiagnostic signs. Until now, no guidelines have been produced for a disease-specific evaluation of muscle impairment in patients with Cushing's syndrome...
November 15, 2017: Endocrine
https://www.readbyqxmd.com/read/29128256/megf10-related-myopathies-a-new-case-with-adult-onset-disease-with-prominent-respiratory-failure-and-review-of-reported-phenotypes
#17
Elizabeth Harris, Chiara Marini-Bettolo, Ana Töpf, Rita Barresi, Tuomo Polvikovski, Geraldine Bailey, Richard Charlton, James Tellez, Daniel MacArthur, Michela Guglieri, Hanns Lochmüller, Kate Bushby, Volker Straub
Recessive mutations in MEGF10 (multiple epidermal growth factor 10) have been reported in a severe early onset disorder named Early Myopathy, Areflexia, Respiratory Distress and Dysphagia, and a milder form with cores in the muscle biopsy; and a possible genotype-phenotype correlation determining the clinical presentation has been suggested. We undertook exome sequencing in a 66 year old male with a 20 year history of progressive proximal and distal weakness of upper and lower limbs, facial weakness and dysphagia, who developed respiratory failure requiring ventilation while still ambulant in his 50s...
October 12, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29112784/clinical-and-genetic-features-of-patients-with-facial-sparing-facioscapulohumeral-muscular-dystrophy
#18
J-J He, X-D Lin, F Lin, G-R Xu, L-Q Xu, W Hu, D-N Wang, H-X Lin, M-T Lin, N Wang, Z-Q Wang
BACKGROUND AND PURPOSE: Facial-sparing scapular myopathy (SHD) is the most common atypical form of facioscapulohumeral muscular dystrophy (FSHD), clinically defined as those without apparent facial muscle weakness on neurologic examination. The clinical profiles and genetic features of SHD are limited. METHODS: A cohort of 21 Chinese patients with SHD were confirmed by PFGE-based molecular genetic analysis. The clinical assessments and methylation analysis were noted...
November 7, 2017: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/29098524/mechanical-dyssynchrony-alters-left-ventricular-flow-energetics-in-failing-hearts-with-lbbb-a-4d-flow-cmr-pilot-study
#19
Jakub Zajac, Jonatan Eriksson, Urban Alehagen, Tino Ebbers, Ann F Bolger, Carl-Johan Carlhäll
The impact of left bundle branch block (LBBB) related mechanical dyssynchrony on left ventricular (LV) diastolic function remains unclear. 4D flow cardiovascular magnetic resonance (CMR) has provided reliable markers of LV dysfunction: reduced volume and kinetic energy (KE) of the portion of LV inflow which passes directly to outflow (Direct Flow) has been demonstrated in failing hearts compared to normal hearts. We sought to investigate the impact of mechanical dyssynchrony on diastolic function by comparing 4D flow in myopathic LVs with and without LBBB...
November 2, 2017: International Journal of Cardiovascular Imaging
https://www.readbyqxmd.com/read/29089813/breast-cancer-and-dermatomyositis-a-case-study-and-literature-review
#20
E Hendren, O Vinik, H Faragalla, R Haq
A 49-year-old woman presents with an extensive violaceous rash, rapidly progressive proximal muscle weakness, and dysphagia to solids, consistent with a diagnosis of dermatomyositis. Two weeks later, she palpates a mass in her left breast and is diagnosed with her2-positive metastatic invasive ductal carcinoma of the breast. There is a well-established association between dermatomyositis and malignancy. However, the specific association between breast cancer and dermatomyositis has not been well characterized...
October 2017: Current Oncology
keyword
keyword
16304
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"