High CPK Research Articles

A Case of Legionella Pneumonia with Rhabdomyolysis, with Extremely high Creatinine Kinase without Acute Kidney Injury in an Adult.

Legionella pneumonia is difficult to distinguish from bacterial pneumonia, therefore rapid Legionella testing, particularly in areas with high rates of incidence, is important for targeted therapy.Legionella pneumonia with rhabdomyolysis with extremely high CPK levels is usually associated with AKI but preserved kidney function is possible and early diagnosis and treatment can lead to decreased mortality and morbidity in severe cases.

GNE (Nonaka) distal myopathy with moderately high CPK and slow progression – A Sri Lankan case with a novel genetic variant

GNE (Nonaka) distal myopathy with moderately high CPK and slow progression – A Sri Lankan case with a novel genetic variant

Quando la rabdomiolisi risponde al glucosio

The case of an 8-year-old boy complaining easy tiredness, poor exercise tolerance and high CPK blood level is described. The diagnosis of glutaric aciduria type II was finally made.

Bi-allelic variants in HMGCR cause an autosomal-recessive progressive limb-girdle muscular dystrophy

Statins are a mainstay intervention for cardiovascular disease prevention, yet their use can cause rare severe myopathy. HMG-CoA reductase, an essential enzyme in the mevalonate pathway, is the target of statins. We identified nine individuals from five unrelated families with unexplained limb-girdle like muscular dystrophy and bi-allelic variants in HMGCR via clinical and research exome sequencing. The clinical features resembled other genetic causes of muscular dystrophy with incidental high CPK levels (>1,000U/L), proximal muscle weakness, variable age of onset, and progression leading to impaired ambulation. Muscle biopsies in most affected individuals showed non-specific dystrophic changes with non-diagnostic immunohistochemistry. Molecular modeling analyses revealed variants to be destabilizing and affecting protein oligomerization. Protein activity studies using three variants (p.Asp623Asn, p.Tyr792Cys, and p.Arg443Gln) identified in affected individuals confirmed decreased enzymatic activity and reduced protein stability. In summary, we showed that individuals with bi-allelic amorphic (i.e., null and/or hypomorphic) variants in HMGCR display phenotypes that resemble non-genetic causes of myopathy involving this reductase. This study expands our knowledge regarding the mechanisms leading to muscular dystrophy through dysregulation of the mevalonate pathway, autoimmune myopathy, and statin-induced myopathy.

Rabdomiolisi... stellare

The case of a 9-year-old boy presenting with brown coloured urine (myoglobinuria) and extraordinarily high blood CPK levels is described. A diagnosis of rhabdomyolisis related to a Coxsackievirus A and B infection was finally made.

Ayurvedic Emphasis in Duchenne Muscular Dystrophy: A Case Study

Duchenne muscular dystrophy is one of the most common dystrophinopathies known. It is the most common hereditary neuromuscular disorder and is inherited in an X-linked recessive manner. Incidence is 1:3500 live male infants, characterised by progressive weakness of a selective group of muscles without involvement of nervous system. Age of onset being 3-10 years, many children unable to walk before 18 months of age. The patient usually dies by 18-20 years of age. 80% carries have high CPK values with female being the one. Dystrophin gene is the largest human gene with 79 exons, codes for protein dystrophin required for stabilisation of protein complex at sarcolemma, the abnormal DMD gene is on X chromosome at Xp21 locus. Dystrophin deficiency thus, leads to destruction of muscle fibres and progressive muscular weakness. Corticosteroids are the only medications that have shown to alter the course of DMD but have side effects like weight gain, decreased appetite, increase changes of cataract and osteoporosis. The present study is about management 8 years old male child with B/L lower limb weakness and calf muscle hypertrophy.etc, so according to Ayurvedic management with Panchkarma procedures and internal medicines given the case was managed. Successful improvement in CPK values along with the signs and symptoms was observed. As per Ayurvedic Siddhant and Samprapti application considering Adibalapravrittavyadhi and the Beejabhaga avayava dushti the management done. There is no treatment in any system of medicine and prognosis being unpreventable, Ayurveda instills a regenerative mechanism in neuromuscular disorders with special concern of Panchkarma, Rasayanas, Rasa aushadhi, etc. By this the deterioration can effectively be prolonged and quality of life improved.

A Multicenter, Prospective Study for Pediatric Chronic Myeloid Leukemia in Chronic Phase: The JPLSG CML-08 Study

Background: Tyrosine kinase inhibitor (TKI) has been used in pediatric chronic myeloid leukemia (CML) for more than 10 years, but only a few prospective clinical studies have been conducted in pediatric patients with CML due to their rarity. We conducted the JPLSG CML-08 study to determine the efficacy and tolerability of TKIs in children and adolescents with newly diagnosed CML in chronic phase (CML-CP).Methods: The JPLSG CML-08 study was a prospective multicenter observational study (UMIN000002581). Patients under 18 years of age with untreated BCR-ABL1-positive CML-CP were eligible and treated according to the modified ELN-2009 recommendation, and the efficacy and safety of TKIs were evaluated.Results: From October 2009 until September 2014, 79 patients were enrolled in 46 hospitals in Japan. A total of 78 patients (49 males and 29 females) were eligible for inclusion. Median age at diagnosis was 11 years (range, 1-17). Median observational period for survivors was 82 months (range, 48-118). Median WBC, Hb and platelet counts were 275x10 9/L (range, 8-765), 9.6g/dL (range, 5.8-14.6) and 560x10 9/L (range, 110-2875), respectively. Splenomegaly was found in 76%. High risk of Sokal, Hasford, EUTOS, and ELTS scores were observed in 21, 13, 27, and 9%, respectively. Clonal chromosome abnormalities in Ph-positive cells occurred in 1 patient at diagnosis. Imatinib, dasatinib, and, nilotinib were used as a first-line treatment in 69 (88%), 7 (9%), and 2 (3%) patients, respectively. The median initial dose of imatinib, dasatinib, and nilotinib was 276, 63, and 262mg/m2, respectively. 5y-PFS and OS was 96.2% (95%CI, 88.6 to 98.7%) and 97.4% (95%CI, 90.1 to 99.4%), respectively. Deaths were observed in 2 patients due to transplant complications. Hematopoietic cell transplantation was conducted in 14 patients (18%). Nine patients (12%) discontinued TKI with the aim of treatment-free remission (TFR), and five of them achieved TFR. In 69 patients with first-line imatinib, complete hematologic response was achieved in 95.7% at 3 months, complete cytogenetic response in 75.4% at 12 months, major molecular response (MMR) in 40.1% at 18 months, and MR4.0 in 52.8% at 60 months; If a transplant was performed, the follow-up period was censored at the date of transplant. Of the 69 patients, 52% changed treatment from imatinib to another TKI or transplant due to poor response, and 20% did due to intolerance. The most common cause of intolerance to imatinib was musculoskeletal events. BCR-ABL1 (IS) <10% at 3 months strongly correlated with higher achievement of MMR, MR4.0, and MR4.5. The EUTOS score was significantly associated with achievement of IS <10% at 3 months. Patients with a first-line second-generation TKI had a higher cumulative incidence of MR4.5 (P = 0.0191) than patients with a first-line imatinib. Second-generation TKI was used as first-line therapy only in patients older than 9 years, but other clinical characteristics, including risk scores, did not differ significantly between the two groups. The incidence of grade 3/4 adverse events (≥ 10%) included neutropenia (47%), anemia (39%), leukopenia (13%), arthralgia (13%), and myalgia (11%) for imatinib, neutropenia (21%), anemia (13%), and thrombocytopenia (11%) for dasatinib, and neutropenia (14%), elevated ALT (14%), hyperbilirubinemia (14%), skin rash (14%), and high CPK (14%) for nilotinib. Gastrointestinal bleeding was an adverse event specific to dasatinib (11% in all grades).Conclusion: This clinical study extends and confirms previous data showing that first-line treatment with imatinib is effective in children and adolescents, with response rates similar to those seen in adults. Although longer follow-up is needed to fully assess the long-term toxic effects, adverse events with imatinib, dasatinib, and nilotinib have been acceptable. As reported in adults, there was an advantage in selecting second-generation TKI over imatinib as first-line therapy to achieve deep molecular remission (DMR). Since discontinuation of TKI after achieving DMR is the preferred strategy, second-generation TKI is expected to become the standard therapy for children and adolescents. DisclosuresNo relevant conflicts of interest to declare.

Bone Mineral Density in Patients with Hepatic Glycogen Storage Diseases.

The association between bone mineral density (BMD) and hepatic glycogen storage diseases (GSDs) is still unclear. To evaluate the BMD of patients with GSD I, IIIa and IXα, a cross-sectional study was performed, including 23 patients (GSD Ia = 13, Ib = 5, IIIa = 2 and IXα = 3; median age = 11.9 years; IQ = 10.9–20.1) who underwent a dual-energy X-ray absorptiometry (DXA). Osteocalcin (OC, n = 18), procollagen type 1 N-terminal propeptide (P1NP, n = 19), collagen type 1 C-terminal telopeptide (CTX, n = 18) and 25-OH Vitamin D (n = 23) were also measured. The participants completed a 3-day food diary (n = 20). Low BMD was defined as a Z-score ≤ −2.0. All participants were receiving uncooked cornstarch (median dosage = 6.3 g/kg/day) at inclusion, and 11 (47.8%) presented good metabolic control. Three (13%) patients (GSD Ia = 1, with poor metabolic control; IIIa = 2, both with high CPK levels) had a BMD ≤ −2.0. CTX, OC and P1NP correlated negatively with body weight and age. 25-OH Vitamin D concentration was decreased in seven (30.4%) patients. Our data suggest that patients with hepatic GSDs may have low BMD, especially in the presence of muscular involvement and poor metabolic control. Systematic nutritional monitoring of these patients is essential.

Evaluation of epidemiology, clinical features, prognosis, diagnosis and treatment outcomes of patients with COVID-19 in West Azerbaijan Province.

BackgroundCOVID‐19 is considered a widespread concern in global public health. Diagnoses of COVID‐19 in some cases are necessary because of severe prognosis. In this study, epidemiologies, clinical and demographic characteristics of patients with COVID‐19 were studied in Taleghani Hospital, Urmia, Iran.MethodsThis descriptive‐analytical cross‐sectional study was carried out on 215 patients with COVID‐19 during March and April 2020. Approved COVID‐19 case was considered as a person with a positive respiratory sample performed by at least one of two RT‐PCR methods or genetic sequencing. ANOVA repeated measure, independent t‐test and logistic regression were done. A P < .05 was considered significant.ResultsThe mean age of patients was 50.93 ± 17.92 years. Regarding gender, there were 91 females (42.3%) and 124 males (57.7%). The mean hospital stay, the temperature at admission, and onset of symptoms were 4.91 ± 3.68 days, 37.40 ± 0.96°C and 5.88 ± 4.80 days, respectively. Close contact with suspected people was found in 10.2% of patients. Additionally, 44 patients (20.5%) were smokers. Shortness of breath and cough were found in 62.8% and 49.3% of patients. Diabetes mellitus and hypertension were the most common comorbidities of patients. Regarding lung involvement, 33 patients (33%) were normal, most of the patients (n = 71) had 5%‐25% involvement in their lung and a minority of patients (n = 13) had a severe condition of 50%‐75% lung involvement. The association between smoking and mortality was tested using chi‐square showing no significant difference (X2:2.959, P = .085). There was no significant difference between AST, ALT, ALP, total, direct Bilirubin, lung involvement and suffering from fever (P > .05). High Spo2 can increase the chance of recovery by 24% with each unit reduction. Kidney involvement increases the chance of death by about 80% (95% CI: 0.104‐0.013). The odds ratio of spo2 for recovery of COVID‐19 was 1.24 (95% CI: 1.014‐1.528; P = .037). Kaletra with odds ratio of 31.960 had the most highest effect on recovery following COVID‐19 (P = .043).ConclusionCOVID‐19 involves different organs of the body with different severity. In the meantime, smoking was not a risk factor for the virus or associated with severe manifestations of the disease. Patients with high creatinine and CPK, pulmonary involvement above 25%, and hypoxemia had a higher mortality rate. Increase of Spo2 by 1% can improve the patients by 24%. The results indicated that Kaletra had the most highest effect on improvement following COVID‐19.

Dal fegato al muscolo: una rara malattia a esordio tardivo

We describe the case of a seven-year-old child who, following the incidental finding of hypertransaminasemia in the blood tests performed for a lymphadenopathy, is subjected to other blood tests that show a persistent moderate increase in CPK values, supporting the hypothesis of a muscle disease even in the absence of specific symptoms. The diagnostic path seems to point towards a late-onset metabolic myopathy. The occasional finding of hypertransaminases , associated with the finding of high CPK levels in an asymptomatic or paucisymptomatic child, orients the diagnostic path. Excluding hepatic storage disease or viral infectious disease, the differential diagnosis leads to a complex late-onset myopathy such as Pompe disease, a rare but important diagnosis whose prognosis could be dramatically improved by the enzyme replacement therapy.

ANTISYNTHETASE SYNDROME AND PLEURAL EFFUSION: A CASE REPORT

ANTISYNTHETASE SYNDROME AND PLEURAL EFFUSION: A CASE REPORT

Analysis of severe Legionellosis hospitalized in intensive care units in Tunisia

This study is the first one that describes the situation of Legionnaires' disease (LD) in Tunisia, with its clinical and epidemiological characteristics and investigates the risk factors associated with Legionella infections in our country. We conducted a retrospective multicentric study during 5 years (2008-2012) concerning all confirmed LD cases in Tunisia and we investigated risk factors for infection. The total of confirmed LD cases was 14. Incidence was 0.03. Mean age: 53.1, sex ratio (M/F): 2.6. Summer-autumnal peak was noted. Risk factors for infection were: the great humidity at home (n=4), living in community (n=3) and practice ablutions (before prayer) in public places (n=4). Community acquired legionellosis (n=9) and nosocomial (n=2). Pulmonary symptoms (n=11)+/-gastrointestinal (n=6) and/or neurological signs (n=4). Beta lactams therapy failed (n=11). CXR showed bilateral lesions (n=6). Abnormalities in laboratory values were noted: hyponatremia (n=9), high CPK levels (n=9). Diagnosis was confirmed by positive urinary Legionella antigens test (n=10) and by direct immunofluorescence (n=1). Treatment was based on bitherapy (n=10). Five patients died. The incidence of LD appears lower than other countries. Some risk factors, as ablutions, are different from that reported in Western countries and seem to be specific to our society. Given the seriousness of its consequences, it is strongly recommended to improve the national surveillance system up and register LD as notifiable disease.

A case of prolonged exertional rhabdomyolysis in a MHS individual

Case report A 42-year old healthy Caucasian male contacted our malignant hyperthermia (MH) hotline due to cramps and muscle pain one week after moderate exercise. He was already diagnosed MHS in 1988 by in vitro contracture test (IVCT), after a suspected MH episode during general anaesthesia. At present, he reported severe muscle pain and cramps in both upper legs. The discomfort has started after moderate endurance training with mild muscle soreness for 2 days. On the 3 day, pain increased, accompanied by severe muscle cramps in both upper legs. Symptoms were worsened by cold temperature. Due to pain, muscle weakness and swelling in both upper legs, he had sought medical attention on day 5 in a surgical outpatient clinic, where an ultrasound examination showed a “homogenous increase in muscle density of both quadriceps muscles”. No laboratory tests except d-dimer were performed and after exclusion of an acute thromboembolic event, the patient was dismissed. Due to ongoing pain, he contacted our MH-Hotline 7 days after the exercise. He still felt sick and reported darker urine during the past 3 days. Body temperature was not yet measured. His general practitioner had already taken a blood examination one hour before the telephone call. One day later, laboratory analysis was available and showed a CPK of 39,628 U/l and myoglobin of 2,863 ng/ml, consistent with rhabdomyolysis. Also liver enzymes were elevated, but kidney function and potassium were normal. The patient reported a body temperature of 37.5°C in the morning. Due to the high CPK levels 7 days after exercise (normally, peak levels are expected within 48 to 96 h), we recommended an immediate admission to our unit and decided to start with dantrolene 2.5 mg/kg IV. After the initial dose of dantrolene he was admitted to an intermediate care unit for the first 24h. Dantrolene was not continued since he was clinically stable. No clinical signs of a compartment syndrome could be detected. Pain continuously decreased and laboratory parameters slowly returned to normal within the next 2 weeks except of a CPK of 330 U/l. Body temperature and kidney function remained normal during the whole period. Any other reason for rhabdomyolysis than MHS diagnosis, i.e. viral or bacterial infection, hypothyreosis, medication, drugs or dietary supplements could be ruled out. A MRI examination showed an inhomogenous enhancement of contrast medium and edema of both quadriceps muscles. The patient was dismissed from hospital 3 days later, additional genetic testing has been planned. Unfortunately, previous CPK levels of the patient were unknown and in 1988, when IVCT was performed, histology was not regularly done.

Non-deletion mutations in Egyptian patients with Duchenne muscular dystrophy

Duchenne muscular dystrophy (DMD) is the most common form of muscular dystrophies affecting approximately 1:3500 male live births. Deletion of the dystrophin gene accounts for approximately 65% of mutations, duplications occur in 6–10% while the remaining 20–30% are point mutations, small deletion/insertions, or splicing mutations. AimTo study non-deletion mutations in a sample of Egyptian patients with DMD as most previous studies focused on deletion mutations. Patients and methodsThe study included 25 patients with DMD from 18 different families from the genetics clinic, Children’s Hospital, Ain Shams University. Diagnosis was made based on typical clinical findings, high CPK and EMG result. Molecular analysis included Polymerase Chain Reaction (PCR) followed by multiplex ligation-dependent probe amplification (MLPA) to those patients with no deletion by PCR. Direct sequencing of the whole dystrophin gene was done to those patients who had no deletion or duplication by the previous 2 methods. ResultsNon-deletion mutation included duplications (5 families (27.8%)) which are higher than previously reported and point mutation (c.583C>T) in only one family. Deletion mutations were found in 9 families (50%) and no mutation found in 3 families (16.7%). Interestingly, 60% of the duplications were located in the distal region of the dystrophin gene. A frame shift mutation was identified in most patients (93%) except one with duplication of exons 50–51 who had an unexpected severe disease with an early age of onset. Also, an intragenic deletion involving the 5′ end of the dystrophin gene (deletion of muscle protomor and exon 1) was found in another patient with severe disease without cardiac involvement. ConclusionThe relative higher frequency of duplication mutations in Egyptian patients with DMD may indicate that MLPA and not PCR should be preferred for molecular testing of Egyptian patients with DMD.

P-574 - High cpk levels in plasma- but not NMS? follow up study of 70 patients in urgent psychiatry

Creatin phosphokinaze enzymes showed high levels when happened infarctus myocardii,rhabdomyolises, and neurolept malignant syndome. NMS is life threatening neurological disorder often caused as adverse reaction of use neuroleptics. its usually presented with high body temperature over 38C,rigidity of muscles, confussion or altered consciousness,autonomic imbalance,cpk eleveted plasma levels and diaphoresis known as sweat shock. NMS can ger peak of intensitiy in as little as 3 days if not threated and can lead to death. In our study we traced levels of cpk, crp, liver enzmes among 70 patients after admission in urgent psychiatry nad the same parametars after one month. Among all patients, the first group 10 persons dg as f20,during admission had gor one amp of haloperidol im plus one amp lorazapam im. CPk were 4500 to 5000, the second group dg as f25, 40 persons got the same therapy. cpk were 2600 to 3000, the third group dg f 18, heroin iv addicts tried ts with tablets but not neuroleptics and cpk were 5000 to 6000,crp 70, hepatitis b.c.many scars on their skin were noticed. After one month on intensive treatment in the first group cpk levels falled to 450, in the second group cpk normalized, and in the third group cpk stayed extremly high as were at start. We diddnt observed other symptoms of NMS, just cpk. so. the question are what exactly means high levels of cpk in psychiatry without using neuroleptics? these patients had been got therapy,as mentioned just one day, the first day of admission. Concluson 10%sch are sensitive.

低K血症と高CPK血症を認めた糖尿病性下痢症の1例--大腸内視鏡所見,生検所見を中心に

低K血症と高CPK血症を認めた糖尿病性下痢症の1例--大腸内視鏡所見,生検所見を中心に

Statin-Induced Myopathy May Explain Weakness, High CPK

Statin-Induced Myopathy May Explain Weakness, High CPK

P03-330 Case report: serotonin syndrome vs neuroleptic malignant syndrom

BackgroundSerotonin Syndrome (SS) is an adverse drug reaction that drives mental-status changes, autonomic hyperactivity and neuromuscular abnormalities.Neuroleptic Malignant Syndrome (NMS) is an idiopathic reaction to dopamine-antagonist that consists of extra-pyramidal symptoms, autonomic dysfunction, hyperthermia, diaphoresis and fluctuating consciousness.Differential diagnosis is sometimes difficult for their overlapping clinical features. Potentially lethal, both require heightened clinical awareness for prevention, recognition and prompt treatment.Case reportCaucasian 59 years-old woman with Catatonic profile (Scored: severity-17points/ 5 screening in Bush-Francis Catatonia-Rating-Scale).Past Medical History-Hypothyroidism-Bipolar Disorder type-2 (25 years of evolution)15 days before hospitalization, anafranil and fluoxetine treatment was replaced by Trazodone 200 mg/day and venlafaxine 150mg/day. She was also on valpromida and lorazepam 15 mg/day.Current historyMutism, negativism. No reaction to painful stimuli, stuporous. Diaphoresis, pallor, tremor, axial rigidity without pyramidalism (&gt;lower limbs), high fever (40°C), tachycardia (&gt;100lpm), rhabdomyolysis (CPK reached 17.000, 48 hours after the admission), leukocytosis, upper transaminasas, hiponatremia with hiperpotasemia.Differential diagnosis-NMS: Intensity, duration and high CPK are suggestive (Sternbach). This syndrome has been described due to Venlafaxine.-SS: Combination of Venlafaxine and Trazodone favors but she doesn't have acatisia, hiperreflexia, diarrhea and it wasn't resolved after 96 hours.Drugs were removed and Lorazepam on high doses (5mg/day) was prescribed. One month later the patient was totally recovered of the episode.ConclusionsIf unsure diagnoses it's priority to remove the causing drugs and supportive care. Afterwards, it can be used benzodiacepines, also dantroleno in SNM.

外傷歴がなく開口障害で発症した破傷風例

We report a patient with a sore throat and trismus associated with tetanus. The 71-year-old man had a sore throat and so consulted the hospital. However, no abnormal physical or fiberscopic findings were noted except for a high CPK level (438 U/l) in the serum. CT and MRI did not demonstrate abnormal findings. He showed trismus and convulsion after 6 days, and was then diagnosed with tetanus. Respiratory care involving intubation and the administration of Penicillin G (24 million units/day for 11 days) and human anti-tetanus immunoglobulin were performed, resulting in cure without any sequelae. We should consider tetanus in patients with a sore throat and trismus because one quarter of tetanus patients show no injury history.

Pravastatin Induced Myopathy

Lipid-lowering agents such as HMG-CoA reductase inhibitors (also known as statin drugs) are generally well tolerated. But a recognized side effect still can happen, We report a case of 47-year-old Iraqi male patient previously known hypothyroid, was not on replacement therapy, as he did not appear after his thyroid functions was checked came in with severe body pain for 10 months got worse in the last three months, started on lipostat (ten months ago) found to have myopathy as evident by high CPK which improved gradually clinically and biochemical after stopping lipostat.