- MR Imaging of Atraumatic Muscle Disorders. [Journal Article]
- RRadiographics 2018 Feb 16; :170112
- Atraumatic disorders of skeletal muscles include congenital variants; inherited myopathies; acquired inflammatory, infectious, or ischemic disorders; neoplastic diseases; and conditions leading to mu...
Atraumatic disorders of skeletal muscles include congenital variants; inherited myopathies; acquired inflammatory, infectious, or ischemic disorders; neoplastic diseases; and conditions leading to muscle atrophy. These have overlapping appearances at magnetic resonance (MR) imaging and are challenging for the radiologist to differentiate. The authors organize muscle disorders into four MR imaging patterns: (a) abnormal anatomy with normal signal intensity, (b) edema/inflammation, (c) mass, and (d) atrophy, highlighting each of their key clinical and imaging findings. Anatomic muscle variants, while common, do not produce signal intensity alterations and therefore are easily overlooked. Muscle edema is the most common pattern but is nonspecific, with a broad differential diagnosis. Autoimmune, paraneoplastic, and drug-induced myositis tend to be symmetric, whereas infection, radiation-induced injury, and myonecrosis are focal asymmetric processes. Architectural distortion in the setting of muscle edema suggests one of these latter processes. Intramuscular masses include primary neoplasms, metastases, and several benign masslike lesions that simulate malignancy. Some lesions, such as lipomas, low-flow vascular malformations, fibromatoses, and subacute hematomas, are distinctive, but many intramuscular masses ultimately require a biopsy for definitive diagnosis. Atrophy is the irreversible end result of any muscle disease of sufficient severity and is the dominant finding in disorders such as the muscular dystrophies, denervation myopathy, and sarcopenia. This imaging-based classification, in correlation with clinical and laboratory data, will aid the radiologist in interpreting MR imaging findings in patients with atraumatic muscle disorders.©RSNA, 2018.
- MERRF Classification: Implications for Diagnosis and Clinical Trials. [Review]
- PNPediatr Neurol 2017 Dec 13
- CONCLUSIONS: MERRF is primarily an MT-TK disease, with pathogenic variants in this gene accounting for ~90% of MERRF patients. Although MERRF is phenotypically and genotypically heterogeneous, myoclonic epilepsy is the clinical feature that distinguishes MERRF from other categories of mitochondrial disorders. Given its low frequency in mitochondrial disorders, myoclonic epilepsy is not explained simply by an impairment of cellular energetics. Although MERRF phenocopies can occur in other genes, additional data are needed to establish a MERRF disease-gene association. This approach to MERRF emphasizes standardized classification rather than clinical phenomenology, thus improving patient diagnosis and clinical trial design.
- [Physiological basis of alcohol-induced skeletal muscle injury]. [Journal Article]
- FCFiziol Cheloveka 2016 May-Jun; 42(3):130-6
- Alcohol-induced muscle damage (AIMD) - an umbrella term that includes all forms of alcoholic myopathy developing in acute or chronic alcohol intoxication. The most common form of destruction of skele...
Alcohol-induced muscle damage (AIMD) - an umbrella term that includes all forms of alcoholic myopathy developing in acute or chronic alcohol intoxication. The most common form of destruction of skeletal muscle in alcoholism is a chronic alcoholic myopathy, which develops independently of other manifestations of alcoholism, such as polyneuropathy, malabsorption syndrome, liver damage, but can be combined with them. The basis of the destruction of skeletal muscle in chronic AIPM is atrophy of muscle fibers. Mainly affects muscle fiber type II with less destruction of type ! fibers. Currently, the pathogenesis of chronic alcoholic myopathy is studied. The imbalance of protein synthesis and proteolysisand increased apoptosis rate are discussed.
- Irregularity and lack of p-waves in short tachycardia episodes predict atrial fibrillation and ischemic stroke. [Journal Article]
- HRHeart Rhythm 2018 Feb 12
- CONCLUSIONS: Characteristics of short SVT episodes at detected at 24hECG screening are associated with incident AF and ischemic stroke. Short irregular SVTs without p-waves likely represent early stages of AF or atrial myopathy. 24hECG could identify subjects suitable for primary prevention efforts.
- A seroprevalence and relationship survey of brucellosis between pregnant women and women with spontaneous abortion in Iran. [Journal Article]
- MJMed J Islam Repub Iran 2017; 31:42
- Background: Brucellosis is one of the most prevalent diseases common between humans and animals. It is also called Malta fever, Undulant fever and Mediterranean fever. This diseas...
Background: Brucellosis is one of the most prevalent diseases common between humans and animals. It is also called Malta fever, Undulant fever and Mediterranean fever. This disease is spread by consuming milk and its unpasteurized derivatives. Clinical symptoms of brucellosis in humans are fever, chills, headache, muscular pain, tiredness, loss of appetite, joint pain, weight loss, constipation, sore throat, and dry cough. The present study aimed at surveying the seroprevalence of brucellosis in pregnant women and those women who suffered from spontaneous abortion.Methods:This case- control study was conducted in Sanandaj (Iran) in 2016 and included 2 groups of pregnant women: one group included 160 pregnant women and the other included 160 women who suffered from spontaneous abortion. Then, the participants were asked to fill out the questionnaire. After receiving permission from an obstetrician, a 10-cc blood sample was taken from each person to be used in the Rose Bengal, Wright, 2ME, and Coombs tests. Independent samples t test and Chi-square test were used to analyze the data and compare the groups.Results:Mean±SD age of women in the case group was 30.9±7.3 years, while it was 27.74±5.41 years in control women. The Rose Bengal, Wright, and 2ME prevalence for both groups was negative, but the Coombs and Wright tests score was 33 (20.6%) in pregnant women and it was 27 (16.9%) in women who experienced spontaneous abortion. No meaningful relationship was observed between spontaneous abortion and brucellosis (p= 0.39).Conclusion:Even though the present study did not find a meaningful relationship between spontaneous abortion and brucellosis (p=0.39), high brucella seroprevalence rates between both groups of women indicated that screening tests should be considered before gestation as an appropriate therapeutic strategy.
- Effectiveness of modified oral steroid administration for preventing esophageal stricture after entire circumferential endoscopic submucosal dissection. [Journal Article]
- DEDis Esophagus 2018 Feb 09
- Esophageal stricture occurs at a high rate after endoscopic submucosal dissection, especially after entire circumferential dissection, leading to poor quality of life. This retrospective cohort study...
Esophageal stricture occurs at a high rate after endoscopic submucosal dissection, especially after entire circumferential dissection, leading to poor quality of life. This retrospective cohort study evaluated the stricture rate in circumferential mucosal defect cases following modified steroid administration. We enrolled 22 consecutive patients who underwent entire circumferential endoscopic submucosal dissection for superficial esophageal cancer between April 2010 and April 2015 at our hospital. Until January 2013, a systemic steroid-prednisolone-was administered at 30 mg/day and tapered over 8 weeks in the original method group (original group). From February 2013, 30 mg of prednisolone was administered orally for 3 weeks and then the dose was reduced in 5 mg decrements every 3 weeks. This group was classified as the modified method group (modified group). We retrospectively compared the stricture rates between the two groups. The postoperative stricture rate was significantly lower in the modified group (36.4%; 4/11 patients) than in the original group (82%; 9/11 patients; P = 0.04). The mean number of endoscopic balloon dilatation procedures was significantly lower in the modified group (6.2 ± 11.3) than in the original group (19.4 ± 15.3; P = 0.023). Pneumonia and oral herpes infection, which are adverse events potentially associated with steroid administration, were observed in the original group. Candida esophagitis, arthritis, and steroid-related myopathy were observed in the modified group. This modified systemic steroid administration was effective for patients with entire circumferential mucosal defect. The safety of this method was also demonstrated.
- The effect ofSLCO1B1polymorphism on the pharmacokinetics of atorvastatin and 2-hydroxyatorvastatin in healthy Chinese people. [Journal Article]
- PPharmazie 2017 Jun 01; 72(6):365-368
- The pharmacokinetics of statins show substantial inter-subject variability. Increasing systemic exposure of statins may lead to adverse drug reactions such as myopathy. The variation in statin pharma...
The pharmacokinetics of statins show substantial inter-subject variability. Increasing systemic exposure of statins may lead to adverse drug reactions such as myopathy. The variation in statin pharmacokinetics is partly explained by genetic factors. OATP1B1, coded by SLCO1B1 transports a large number of therapeutic drugs, such as atorvastatin. Here we investigated the effect of SLCO1B1 polymorphism on the pharmacokinetics of atorvastatin and its metabolites. Two pharmacokinetic studies were conducted in Chinese Han volunteers and 132 volunteers were enrolled in our study as 72 in trial 1 and 60 in trial 2. A LC-MS/MS method was developed for the identification and quantification of atorvastatin acid and its metabolites. S LCO1B1 c.521T>C (rs4149056) was identified by the MALDI-TOF MS and Sequenom MassARRAY system. The distribution frequencies of SLCO1B1 c.521T>C were in agreement with Hardy-Weinberg equilibrium both in trial 1 and trial 2. In subjects with 521C allele the mean Cmax, AUC0-24h and AUC0-∞ of atorvastatin acid and 2-hydroxyatorvastatin acid were significantly higher than subjects with 521TT genotype, while the mean CL was lower. In conclusion, our results suggested that SLCO1B1 c.521T>C had an effect on the pharmacokinetics of atorvastatin and 2-hydroxyatorvastatin in Chinese Han population. Subjects with 521C allele have an increased risk of toxic effects caused by atorvastatin.
- Autoimmune necrotising myopathy and HMGCR antibodies. [Journal Article]
- PNPract Neurol 2018 Feb 08
- Statins lower serum cholesterol concentrations by inhibiting the enzyme 3-hydroxy-3-methylglutaryl-coenzyme A reductase (HMGCR). Muscle side effects are relatively common and include asymptomatic ele...
Statins lower serum cholesterol concentrations by inhibiting the enzyme 3-hydroxy-3-methylglutaryl-coenzyme A reductase (HMGCR). Muscle side effects are relatively common and include asymptomatic elevation of serum creatine kinase (CK), myalgia, proximal muscle weakness and rhabdomyolysis. More recently, a subset of cases of immune-mediated necrotising myopathy has been found to have antibodies against HMGCR. It is often an aggressive and debilitating myopathy and has a complex pathogenesis characterised by fibre necrosis, usually with minimal associated inflammation. Not all such patients are taking statins. The general consensus is that best treatment involves withdrawing the statin and giving immunosuppressive and immunomodulatory treatment. We describe three cases of HMGCR-related immune-mediated necrotising myopathy, detailing their clinical course and subsequent management, illustrating the spectrum of this disorder.
- Mobility shift of beta-dystroglycan as a marker ofGMPPBgene-related muscular dystrophy. [Journal Article]
- JNJ Neurol Neurosurg Psychiatry 2018 Feb 03
- CONCLUSIONS: Our data demonstrate that a change in β-DG electrophoretic mobility in patients with dystroglycanopathy is a distinctive marker of the molecular defect inGMPPB.
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- Novel mutations in DNAJB6 cause LGMD1D and distal myopathy in French families. [Journal Article]
- EJEur J Neurol 2018 Feb 13
- CONCLUSIONS: The mutational and phenotypical spectrum of DNAJB6-caused muscle disease is larger than previously reported, including also dysphagia. The originally reported c.279C>G (p.Phe93Leu) mutation is now identified in four different populations and appears to be a mutational hotspot. Our report confirms that some DNAJB6 mutations cause distal-onset myopathy and hence DNAJB6 defects should be considered broadly in dominant muscular dystrophy families. This article is protected by copyright. All rights reserved.