High Serum Creatine Kinase Research Articles

Pregabalin-induced rhabdomyolysis: a case series and literature analysis.

Pregabalin is a prescription medicine that has recently been approved for individuals who suffer from fibromyalgia, neuropathic pain, anxiety disorder, or epilepsy. Pregabalin has the side effects of dizziness, sleepiness, and angioedema. Pregabalin-induced rhabdomyolysis has been rarely reported, with only four reports to date. We report two cases of rhabdomyolysis after pregabalin treatment. A man aged older than 90 years presented with exhaustion, muscle aches, and a high serum creatine kinase concentration after taking 75 mg of pregabalin on the first day of treatment. A woman in her 90s with long-term use of pregabalin presented with considerably elevated serum creatine kinase concentrations. Both patients had a long history of taking statins. Pregabalin therapy was stopped, high-volume intravenous fluids were administered, and serum electrolytes were frequently checked. Alkalinisation was performed with excellent outcomes. The Naranjo Adverse Drug Reaction scale and previous research suggest an association between pregabalin and rhabdomyolysis. Clinicians should be alert to the possibility of rhabdomyolysis occurring with the use of pregabalin, especially when taking statins.

The Spectrum of Deletion Pattern in the Dystrophin Gene in Duchenne Muscular Dystrophy Patients: A Cross-sectional Study from Northeast India

Introduction: Duchenne Muscular Dystrophy (DMD) is an X-linked recessive neuromuscular disorder characterised by progressive, irreversible muscle weakness. It is caused by a mutation in the dystrophin or DMD gene, leading to the absence of the essential muscle protein Dystrophin in DMD. Muscle strength continually diminishes, and death usually occurs from chronic respiratory insufficiency and/or cardiac failure. Due to the high mortality rate, early diagnosis is crucial to allow appropriate planning for patient care and treatment. In India, the traditional multiplex Polymerase Chain Reaction (PCR) assay is the most common method to detect Dystrophin gene deletion mutations. Aim: To describe the spectrum of deletion patterns in the dystrophin gene in muscular dystrophy patients attending a tertiary care hospital in Northeast India. Materials and Methods: A hospital-based cross-sectional study was conducted on a total of 53 suspected DMD patients attending the Department of Neurology and Department of Paediatrics at Assam Medical College, Dibrugarh, Assam, India from January 2016 to December 2022. Multiplex PCR was performed to study the deletion patterns for the 25 most common exons of the DMD gene for all patients at the Genetic lab, Department of Anatomy. Deletion mutations at different multiple exons were found, and the results were statistically analysed using Statistical Package for Social Sciences (SPSS) to calculate the mean and standard deviation. The results were presented in tabular form as percentages. Results: Out of the 53 cases suspected to have DMD on the basis of clinical presentation and high serum Creatine Kinase (CK) levels, 34 patients (64.2%) showing deletion mutations in the 25 most common exons of the DMD gene were included in the study. Deletions were most common in 15 (44.1%) patients in the distal hotspot region of exons 44-55. The most common gene deleted was exon 50 in 11 (32.4%) patients. The age at which symptoms were noticed was 4.7±2.01 years. The mean age at diagnosis was 8.4±2.4 years. Conclusion: In the present study, most patients suspected of DMD based on clinical and laboratory findings had deletions in the DMD gene, with the most common region for deletion in the dystrophin gene being the distal hotspot region, and exon 50 being the most commonly deleted.

Myositis : Rare Presentation of Dengue, not Uncommon in Children

Dengue myositis is a recently recognized category of idiopathic inflammatory myopathies manifested as symmetric proximal muscle weakness with severe limb pain and high serum creatine kinase (CK) levels, in dengue patient (NS1 positive or IgM positive). A total 4 cases of dengue myositis were admitted at Shaheed Suhrawardy Medical College during the period from August to October, 2023. All were male & they presented mainly with severe limp pain with inability to walk they were diagnosed as dengue fever serologically. Two cases presented during febrile phase & two following fever. Their S. CPK level were high with mildly low platelet count. None of them developed shock or hemorrhagic manifestation. They were treated supportively and all 4 cases recovered without any sequelae. Dengue myositis in children is usually benign and is differentiated from other causes of flaccid paralysis by tenderness of calf and thigh muscles and raised CPK levels with other normal neurological findings. But sometimes it may result in serious consequences, so all children with dengue infection should be followed up carefully with S.CPK level J Bangladesh Coll Phys Surg 2023; 41: 101-104

A high serum creatine kinase (CK)-MB-to-total-CK ratio in patients with pancreatic cancer: a novel application of a traditional marker in predicting malignancy of pancreatic masses?

BackgroundThe finding that some benign pancreatic masses mimic the imaging appearance of carcinomas poses a challenge for pancreatic surgeons. Preoperative markers that assist in the diagnosis are critical under this circumstance. Abnormal serum creatine kinase (CK) isozyme levels were reported in cancer patients, and this study aimed to explore the potential value of the CK-MB-to-total-CK ratio (CK ratio) in differentiating pancreatic cancer (PC) from benign masses when combined with carbohydrate antigen 19-9 (CA19-9).MethodsA total of 190 patients primarily diagnosed with pancreatic masses were retrospectively reviewed and assigned to the PC group and the benign pancreatic mass (BPM) group. Sixty-eight controls were enrolled for comparison. Levels of preoperative parameters, including total serum CK, CK-MB, absolute neutrophil count, absolute lymphocyte count, albumin, and CA19-9, were recorded as well as pathological information. A logistic regression model was established to assess the application value of the combination of CA19-9 and the CK ratio in diagnosis. Receiver operating characteristic (ROC) curves were constructed to evaluate the diagnostic value of the markers.ResultsThe CK ratio was significantly elevated in the PC group compared with the BPM group (P < 0.001). In the multivariate analysis, a CK ratio greater than 0.220 was a statistically significant variable for predicting malignancy of pancreatic masses (P=0.001). Patients with stage III/IV PC had a higher CK ratio than those with stage I/II PC (P<0.01). Combined detection of CA19-9 and the CK ratio produced an increased Youden index (0.739 vs. 0.815) with improved sensitivity (82.2% vs. 89.8%).ConclusionsThe CK ratio is elevated in patients with pancreatic adenocarcinoma and is an independent factor predicting pancreatic adenocarcinoma. The CK ratio augments the diagnostic capacity of CA19-9 in detecting malignancy.

Muscle magnetic resonance imaging abnormality in neuroleptic malignant syndrome: a case report

BackgroundNeuroleptic malignant syndrome (NMS) is a rare and occasionally fatal undesirable reaction to dopamine antagonists, and its phenotype is diverse owing to causative drugs. Classically, elevation of serum creatine kinase is described in NMS. Some reports have described muscular pathological findings; however, muscle magnetic resonance imaging (MRI) has not been reported previously.Case presentationA 63-year-old woman with a history of schizophrenia presented to our hospital with a high fever, excessive sweating, muscle weakness, and elevated serum creatine kinase levels. Muscle MRI revealed T2 high-intensity lesions in several muscles with gadolinium enhancement, and the pathology of the muscle biopsy showed a very mild presence of muscle fiber necrosis and regeneration with type 2c fibers without inflammation. Her symptoms resolved by treatment with levodopa/carbidopa, dantrolene. Finally, the patient was diagnosed with NMS.ConclusionsThis is the first report of muscle MRI abnormalities in a patient with NMS. Muscle MRI abnormalities in NMS may be associated with non-inflammatory myopathic changes. The cause of creatine kinase elevation cannot be explained by abnormal strong muscle contraction nor inflammation.

HP42: EMG is a potential biomarker for myositis in patients with antisynthetase syndrome without muscle symptoms

Anti-aminoacyl-tRNA synthetase (ARS) antibodies positive patients sometimes present interstitial lung disease (ILD) without muscle symptoms. We investigated needle electromyography (nEMG) to explore whether there are some myogenic changes or not in patients with antisynthetase syndrome without muscle symptoms. Method: We enrolled three patients who fulfilled anti ARS antibodies positive and ILD of the Connor's criteria for antisynthetase syndrome, and not fulfill the PM/DM criteria. We investigated the nEMG, and magnetic resonance imaging (MRI) of muscles to explore whether there are some myogenic changes or not. Serum creatine kinase (CK), manual muscle testing of 8 muscle groups (MMT8), Inclusion Body Myositis-Functional Rating Scale (IBM-FRS) were measured. This study was approved by the ethics committee of the Nara Medical University School of Medicine. Results: All subjects were females and their ages at the examination were 54 years old (P1), 44(P2) and 69(P3). P1 and P2 had already initiated oral steroid therapy. Although all three patients had no high serum CK level nor decline in IBM-FRS, nEMG revealed that abnormally short durations of the motor unit potential (MUP) patterns in the deltoid and biceps. P3 presented the same MUP pattern in vastus lateralis. MRI revealed inflammatory changes in P2 at left triceps and P3 at anterolateral femurs and posterolateral lower legs. Conclusion: nEMG is usually performed when patients exhibit muscle weakness, but this examination tool can be applicated to detect muscle damage in patients with anti-ARS antibody-associated ILD, prior to muscle weakness, myalgia, and declines in ADLs.

Serum creatine-kinase and extended breastfeeding: Case study

&amp;lt;p&amp;gt;The World Health Organization recommends infants should be exclusively breastfed for the first six months of life. Various factors can affect the maintenance of lactation. Increased physical activity and stress are thought to negatively affect breastfeeding success. The aim of this case study was to examine the effect of high serum creatine-kinase (CK) values and the success of breastfeeding after sports competition. It is assumed that continuous aerobic exercise is a stress for the body that can have a negative impact on lactation and extended breastfeeding. Methods. The level of acute muscle damage (AC) was measured before and after the competition in order to confirm continuous exposure to aerobic exercise. Results. After the competition, elevated serum creatine-kinase levels were noted. Prolactin and TSH values remained within optimal values. Conclusion. Several months of preparation for the competition had an impact on increasing acute muscle damage (AC) after the competition. No negative effect of continuous aerobic exercise on breastfeeding success was observed in this case study.&amp;lt;/p&amp;gt;

Another step towards defining the genetic landscape of rhabdomyolysis.

This scientific commentary refers to ‘MLIP causes recessive myopathy with rhabdomyolysis, myalgia and baseline high serum creatine kinase’, by Lopes Abath Neto et al. (doi:10.1093/brain/awab275).

Preoperative low serum creatine kinase is associated with poor overall survival in the male patients with esophageal squamous cell carcinoma.

Serum creatine kinase level has been reported to be a prognostic indicator in breast or lung cancers but no reports have been in esophageal cancer. We analyzed the prognostic significance of preoperative serum creatine kinase level in patients with esophageal carcinoma. We evaluated the preoperative serum creatine kinase levels of 148 patients (118 male and 30 female) with esophageal squamous cell carcinoma. According to their median serum creatine kinase levels, we divided the patients into high and low serum creatine kinase groups. Univariate and multivariate analyses were used to evaluate the impact of serum creatine kinase level on the prognosis of the patients. The tumor depth (P < 0.01) and stage (P < 0.01) were significantly associated with serum creatine kinase levels. The prognosis was worse in the low serum creatine kinase group than in the high serum creatine kinase group (P = 0.02). In the subgroup analysis, although no survival difference was observed in the female patients between the groups (P = 0.171), the survival of low serum creatine kinase group was significantly worse than that of high creatine kinase group in the male patients (P = 0.001). Cox proportional hazard regression analysis revealed that nodal status (P = 0.019) and serum creatine kinase level (P = 0.047) were independent risk factors associated with overall survival in the male patients. Preoperative low serum creatine kinase level was useful in predicting overall survival in the male patients with esophageal squamous cell carcinoma.

THE CHALLENGING DIAGNOSIS OF DYSFERLINOPATHY – A CASE REPORT

Objectives. Dysferlinopathies are a group of rare genetic myopathies characterized by muscle weakness and atrophy with four distinct clinical phenotypes: Miyoshi myopathy, limb girdle muscular dystrophy type 2B, distal myopathy with anterior tibial onset and an intermediate proximo-distal phenotype. We report a case of dysferlinopathy and discuss relevant clinical, pathological and genetic data. Material and methods. We present the case of a 36 years old man with more than ten years history of progressive muscle weakness and atrophies in the distal lower limbs. He had a first clinical evaluation at the age of 24 years and a muscle biopsy was performed but it was inconclusive. On current admission, he presented with clinical suspicion of Charcot-Marie-Tooth disease, but because of increased serum creatine kinase levels and EMG (electromyography) findings of myopathy, another muscle biopsy was recommended. The muscle tissue obtained was analysed by histopathology, immunohistochemistry, and Western blot techniques, and also a genetic confirmation was recommended. Results. Based on morphological findings, electrodiagnostic study results and clinical context, the diagnosis of primary dysferlinopathy was established, supported by genetic data. Conclusions. The diagnosis may be challenging in these rare genetic myopathies, due to the high variability of phenotypes, ranging from asymptomatic hyperCKemia (high serum creatine kinase level) to a severe clinical picture with loss of ambulation. Repeated evaluation, increasing access to genetic testing and a multidisciplinary approach made an accurate diagnosis possible in our case.

Carnitine palmitoyltransferase II deficiency and post-COVID vaccination rhabdomyolysis.

Carnitine palmitoyltransferase II (CPT II) deficiency is a disorder affecting fatty acid oxidation. The myopathic form of the condition is the most common among adults and manifests itself with a high serum creatine kinase (CK) concentration. Triggers of very high CK concentrations include periods of fasting, infection, exercise, stress, and exposure to extreme temperatures.A 27-year-old man known to have CPT II deficiency presented feeling generally unwell after his COVID-19 vaccine. His CK concentration of 105,000 U/L and deranged liver function tests (ALT 300 U/L and AST 1496 U/L) were in keeping with rhabdomyolysis. His biochemical parameters and myopathy resolved with continuous intravenous dextrose 10% and a high carbohydrate diet.Caution should be exercised when administering vaccinations (including the COVID-19 vaccination) to this population. Clinicians should be wary for signs and symptoms of CPT II deficiency exacerbations and be vigilant in monitoring serum CK.

Acute kidney injury in pediatric non-traumatic rhabdomyolysis.

Our study aimed to determine the prevalence of acute kidney injury (AKI) in pediatric non-traumatic rhabdomyolysis, and to identify factors associated with its development. Clinical information and laboratory tests of children with rhabdomyolysis who were admitted between 2009 and 2018 were reviewed retrospectively. Rhabdomyolysis was defined by a peak serum creatine kinase (CK) level > 1000 IU/L within the first 72 h of admission. The primary outcome was the occurrence of AKI within the first 7 days of admission, which was determined by the KDIGO criteria. A total of 54 patients with a median age of 7.8 years old were included. Ten (18.5%) patients developed AKI. AKI was relatively rare in children with viral myositis (2.6%), whereas all patients with rhabdomyolysis related to seizure or irritability/dystonia developed AKI. Patients with AKI had higher white cell count (10.6 vs. 4.5 × 109/L) and lower serum bicarbonate (19.4 vs. 25.5 mmol/L) on admission, with higher peak serum CK (23,086.0 vs. 3959.5 IU/L). The AKI group was more likely to present with positive urine results (myoglobinuria, dipstick heme or protein ≥ 2+). Peak serum CK had a good discriminatory power for stage 2-3 AKI (AUC 0.930, p = 0.005), with an optimal cut-off of 15,000 IU/L identified from the ROC analysis. The overall prevalence of AKI in pediatric non-traumatic rhabdomyolysis was 18.5%. Positive urine tests (myoglobinuria, dipstick heme or protein ≥ 2+), high white cell count, lower serum bicarbonate on admission, and high peak serum CK were associated with development of AKI.

Evaluation of Clinical, Laboratory and Ultrasonography Variables as Prognostic Indicators in Equine Colic Surgery

Background: Equine colic surgery is an expensive procedure and availability of reliable prognostic indicators aid in decision making process. This study aimed to evaluate clinical, hemato-biochemistry, ultrasonography, surgery and peritoneal cytology / intestinal histology as prognostic indicators (based on strangulating vs non-strangulating lesion) for equine colic surgery. Methods: Fifteen equines {13 females and 2 males; 5 Thoroughbred, 9 Marwari and one mule} operated for intestinal colic were investigated. The feeding history, pre and post-surgery clinical, hematological and biochemical findings were recorded. Pre and post-surgery ultrasonography, peritoneal cytology and intestinal histology were done. Three equine were euthanized intra-operatively and 12 were followed for short and long term outcome. Result: On surgery, three equine were diagnosed for strangulating (right dorsal displacement of large colon, large colon volvulus and small colon strangulation) and 12 for non-strangulating colic {impaction (3), fecalith (5), sand colic (2), foreign body (1) and small intestine ileus (1)}. Detection of polymorphonuclear cells alone or with lymphocytes on peritoneal fluid cytology was indicator of good prognosis. Feeding of wheat straw is major predisposing factor for non-strangulating colic in Marwari breed but had favorable surgical prognosis (7/9=77.78%). While Thoroughbreds, not on wheat straw, are susceptible to strangulating colic that require early referral for favorable surgical outcome. Prolonged capillary refill time, injected mucous membranes, absent borborygymi, high serum creatine kinase and glucose are poor prognostic indicators for colic surgery. Thoroughbred equine with severe pain, elevated levels of Hb, neutrophils, packed cell volume (PCV), serum glucose and low peritoneal total protein are indicators of strangulating lesion. The equine colic surgery bears a very good short term (10/12=83.33%) and excellent (10/10=100%) long term outcome.

A systematic review and meta-analysis to inform cancer screening guidelines in idiopathic inflammatory myopathies.

ObjectivesTo identify clinical factors associated with cancer risk in the idiopathic inflammatory myopathies (IIMs) and to systematically review the existing evidence related to cancer screening.MethodsA systematic literature search was carried out on Medline, Embase and Scopus. Cancer risk within the IIM population (i.e. not compared with the general population) was expressed as risk ratios (RR) for binary variables and weighted mean differences (WMD) for continuous variables. Evidence relating to cancer screening practices in the IIMs were synthesized via narrative review.ResultsSixty-nine studies were included in the meta-analysis. DM subtype (RR 2.21), older age (WMD 11.19), male sex (RR 1.53), dysphagia (RR 2.09), cutaneous ulceration (RR 2.73) and anti-transcriptional intermediary factor-1 gamma positivity (RR 4.66) were identified as being associated with significantly increased risk of cancer. PM (RR 0.49) and clinically amyopathic DM (RR 0.44) subtypes, Raynaud’s phenomenon (RR 0.61), interstitial lung disease (RR 0.49), very high serum creatine kinase (WMD −1189.96) or lactate dehydrogenase (WMD −336.52) levels, and anti-Jo1 (RR 0.45) or anti-EJ (RR 0.17) positivity were identified as being associated with significantly reduced risk of cancer. Nine studies relating to IIM-specific cancer screening were included. CT scanning of the thorax, abdomen and pelvis appeared to be effective in identifying underlying asymptomatic cancers.ConclusionCancer risk factors should be evaluated in patients with IIM for risk stratification. Screening evidence is limited but CT scanning could be useful. Prospective studies and consensus guidelines are needed to establish cancer screening strategies in IIM patients.

High Serum Creatine Kinase Levels in Infliximab and Vedolizumab-Treated Inflammatory Bowel Disease Patients

Background: TNF inhibitors are relatively safe drugs, but asymptomatic infliximab-induced high serum creatine kinase (CK) levels have been reported in >30% of patients with inflammatory bowel disease (IBD). Whether high serum CK levels are a specific effect of treatment with TNF inhibitors has not been studied in detail. CK levels were therefore compared between infliximab- and vedolizumab-treated IBD patients. Methods: In this retrospective, monocentric study, 131 IBD cases (82 with Crohn’s disease (CD), 49 with ulcerative colitis) of the Basel University Hospital IBD cohort treated either with infliximab or vedolizumab were included. Serum samples for measuring CK, lactate dehydrogenase (LDH), C-reactive protein (CRP), and fecal calprotectin (FCal) levels were collected longitudinally and analyzed using mixed additive models. Results: No significant differences in CK levels between infliximab and vedolizumab-treated patients were observed over time. Infliximab-treated males, however, showed significantly higher CK levels than females and former smokers treated with infliximab showed significantly lower CK levels than nonsmokers. No such differences were observed in vedolizumab-treated patients. LDH and CRP were not significantly different between infliximab- and vedolizumab-treated patients, while adjusted groups showed substantially higher LDH levels with increasing age and significantly lower LDH levels in patients with longer disease duration. Infliximab patients with CD showed significantly lower CRP. However, significantly higher FCal concentrations were noted in infliximab patients independent of diagnosis, gender, disease duration, smoking behavior, and age. Conclusion: In our cohort, high serum CK levels are not an infliximab- or vedolizumab-specific effect.

Rituximab in the treatment of immune-mediated necrotizing myopathy: a review of case reports and case series.

Immune-mediated necrotizing myopathy (IMNM) is a group of immune-related myopathies characterized by progressive proximal muscle weakness, extremely high serum creatine kinase (CK) levels, and necrotic muscle fibers with a relative lack of inflammation. Treatment of IMNM is challenging, with most cases refractory to high-dose steroids in combination with multiple immunotherapies. The role of rituximab (RTX) for IMNM has been explored in isolated case reports and small series. The aim of this article was to perform a literature review of patients with IMNM treated with RTX and to evaluate RTX efficacy and safety. A total of 34 patients with IMNM were reviewed: 52.9% (18/34) with anti-signal recognition particle (SRP) antibodies and 47.1% (16/34) with anti-3-hydroxy-3-methylglutaryl-CoA reductase (HMGCR) antibodies. Patient age at onset varied from 11 years to 81 years (mean 41 years). The majority of patients presented as a severe proximal muscle weakness and the peak level of CK varied from 3900 IU/L to 56,000 IU/L (mean 18,440 IU/L). Prior to RTX administration, all patients were treated with high-dose steroids and most were treated with multiple immunotherapies. The reason for initiating RTX was that 64.7% (22/34) of patients showed no improvement after previous treatments, and 35.3% (12/34) of patients relapsed when attempting to wean steroids or other immunosuppressive agents. With regard to RTX efficacy, 61.8% (21/34) of patients presented a response to RTX.Our data may support the use of RTX as an effective treatment strategy against IMNM resistant to steroids and multiple immunotherapies. Meanwhile, RTX as a first-line therapy could be a choice in IMNM, particularly in African Americans with anti-SRP antibody-positive subsets. ANA, antinuclear antibody; CK, creatine kinase; HMGCR, 3-hydroxy-3-methylglutaryl-CoA reductase; IMNM, immune-mediated necrotizing myopathy; MAC, membrane attack complex; MHC-I, major histocompatibility complex-I; RTX, rituximab; SRP, signal recognition particle.

Immune-mediated necrotizing myopathy: clinical features and pathogenesis.

Immune-mediated necrotizing myopathy (IMNM) is a group of inflammatory myopathies that was distinguished from polymyositis in 2004. Most IMNMs are associated with anti-signal recognition particle (anti-SRP) or anti-3-hydroxy-3-methylglutaryl-coA reductase (anti-HMGCR) myositis-specific autoantibodies, although ~20% of patients with IMNM remain seronegative. These associations have led to three subclasses of IMNM: anti-SRP-positive IMNM, anti-HMGCR-positive IMNM and seronegative IMNM. IMNMs are frequently rapidly progressive and severe, displaying high serum creatine kinase levels, and failure to treat IMNMs effectively may lead to severe muscle impairment. In patients with seronegative IMNM, disease can be concomitant with cancer. Research into IMNM pathogenesis has shown that anti-SRP and anti-HMGCR autoantibodies cause weakness and myofibre necrosis in mice, suggesting that, as well as being diagnostic biomarkers of IMNM, they may play a key role in disease pathogenesis. Therapeutically, treatments such as rituximab or intravenous immunoglobulins can now be discussed for IMNM, and targeted therapies, such as anticomplement therapeutics, may be a future option for patients with refractory disease.

Non-alcoholic fatty liver disease later diagnosed as myotonic dystrophy

BACKGROUNDMyotonic dystrophy (MD) is sometimes accompanied by metabolic/endocrine disorders, including dyslipidemia, central obesity, and hypogonadism. Due to considerable individual differences in the severity and progression of myopathy, MD patients with minimal-to-mild muscle symptoms might be followed as having other diseases, such as non-alcoholic fatty liver disease (NAFLD).CASE SUMMARYA 40-year-old non-obese man without a history of regular ethanol consumption was referred to our hospital due to persistent liver dysfunction and hyperlipidemia. His body mass index was 23.4 kg/m2. Liver histology demonstrated macrovesicular steatosis, ballooned hepatocytes with eosinophilic inclusion bodies, and perisinusoidal fibrosis, leading to the diagnosis of non-alcoholic steatohepatitis (NASH). Although he had no discernable muscle pain or weakness, persistently high serum creatine kinase (CK) and myoglobin levels as well as the presence of frontal baldness, a hatched face, history of cataract surgery, and grip myotonia indicated the possibility of MD. Southern blotting of the patient’s DNA revealed the presence of CTG repeats, confirming the diagnosis.CONCLUSIONWhen gastroenterologists encounter NAFLD/NASH patients, serum CK should be verified. If hyperCKemia, frontal baldness, a hatched face, history of cataract surgery, and grip myotonia are noted, the possibility of MD may be considered.

Plasma homocysteine levels are positively associated with interstitial lung disease in dermatomyositis patients with anti-aminoacyl-tRNA synthetase antibody.

Homocysteine is a sulfhydryl-containing amino acid that is derived from dietary methionine, and there has been increasing evidence that elevated plasma homocysteine levels are associated with increased risk of central and peripheral vascular disorders, including carotid, coronary and peripheral arterial diseases, and Raynaud's phenomenon. Recently, associations of plasma homocysteine levels with autoimmune diseases such as systemic lupus erythematodes and systemic sclerosis have been reported. However, no study analyzed the association between plasma homocysteine levels and dermatomyositis (DM). The objective of this study was to examine plasma homocysteine levels and their clinical associations in patients with DM. Plasma homocysteine levels in 28 Japanese patients with DM and 22 healthy controls were examined. We found that the plasma homocysteine levels in DM patients were significantly higher than those in healthy individuals (15.8±1.1 vs 8.5±0.5µmol/L, P<0.01). Presence of mechanic's hand, complication of interstitial lung disease (ILD), high serum Krebs von den Lungen-6 (KL-6), surfactant protein-D and creatine kinase levels, and anti-aminoacyl-tRNA synthetase (ARS) antibody (Ab) positivity were significantly more prevalent among DM patients with elevated plasma homocysteine levels. The plasma homocysteine levels in DM patients with mechanic's hand, ILD and anti-ARS Ab were significantly higher than those in DM without those features. Furthermore, the plasma homocysteine levels were positively correlated with serum KL-6 levels. These results suggest that the pathogenesis of elevated plasma homocysteine levels may be associated with ILD in DM patients, especially with anti-ARS Ab, and further examination is required.

Duchenne and Becker muscular dystrophy carriers: Evidence of cardiomyopathy by exercise and cardiac MRI testing

BackgroundVaried detection methods have resulted in conflicting reports on the prevalence of cardiac disease in Duchenne and Becker muscular dystrophy carriers (MDC). MethodsWe performed a prospective cohort study of 77 genetically-confirmed MDC mothers, 22 non-carrier mothers, and 25 controls. All participants underwent Cardiopulmonary Exercise Testing (CPET) and Cardiac Magnetic Resonance imaging (CMR). Results25% of carriers had ventricular ectopy in recovery of exercise (RecVE) as compared to 1 non-carrier and no controls (p = .003). No difference in age or maximal oxygen consumption was noted. 11 carriers had abnormal (<55%) left ventricular ejection fraction by CMR. Evidence of late gadolinium enhancement (LGE) was noted in 48% of MDC, 1 non-carrier patient and no control subjects (p < .0001). Subset analysis of LGE+ and LGE- subjects revealed differences in age (44.1 v 38.6 yrs.; p = .005), presence of RecVE, (38.9% v 10.5%, p = .004), and high serum creatine kinase (CK) (> 289 U/l; 52.8% v 31.6%, p = .065). ConclusionWe describe the prevalence of disease using CPET and CMR in genetically-proven MDC. 49% of carriers had fibrosis, opposed to 5% of non-carriers, highlighting the importance of genetic testing in this population. Despite cardiomyopathy, functional assessment by treadmill was normal, illustrating the discrepancy in cardiac and skeletal muscle impacts. Age, RecVE and serum CK appear to have an important role in predicting cardiomyopathy. Serum CK levels suggest that a systemic higher global disease severity and not tissue heterogeneity may be the etiology for greater cardiac disease and relatively spared skeletal muscle disease in this population.Clinical Trial Registrationhttps://clinicaltrials.gov/ct2/show/NCT02972580?term=mendell&cond=Duchenne+Muscular+Dystrophy&rank=5; ClinicalTrials.gov Identifier: NCT02972580