Carnitine palmitoyltransferase II deficiency (CPT II) is an autosomal recessive inherited disorder of long-chain fatty acid oxidation in the mitochondrial matrix, resulting in an inability to utilize fat for energy in cells. The most frequent myopathic form occurs in young adults and is associated with recurrent episodes of exercise-induced rhabdomyolysis. The myopathic form is caused by the Ser113Leu mutation of the CPT II gene. Rarely, massive rhabdomyolysis could be complicated by acute kidney injury (AKI), cardiomyopathy, and respiratory insufficiency. We present a case of an 18-year old male with myalgia, muscular weakness, and dark-colored urine after prolonged exercise and a recent mildSARS-CoV-2infection. Massive rhabdomyolysis was diagnosed with markedly increased serum concentrations of myoglobin and creatine kinase, with normal kidney function. The patient experienced two similar episodes in the years 2017 and 2018, with rhabdomyolysis and AKI treated with hemodialysis. After excluding autoimmune and infectious diseases as causes of recurrent rhabdomyolysis, the patient was genetically tested and Ser113Leu mutation of the CPT II gene was confirmed. When a patient presents with myalgia and dark-colored urine triggered by minor physical activities, genetic testing for possible CPT II deficiency should be initiated. TheSARS-CoV-2infection could be a factor that triggers the occurrence of rhabdomyolysis and aggravates the severity of the attack in patients with CPT II deficiency.
Metastasis of renal cell carcinoma (RCC) to the pancreas is a rare entity accounting only 0.25–3% of all pancreatic tumors. We present a rare case of isolated three focal pancreatic metastases from RCC, occurring 15 years after the left nephrectomy. The majority of the pancreatic metastases are asymptomatic, as it was in case of our patient excluding the weight loss for the last three months. We demonstrate the importance of the medical history, radiological examinations, histological and immunohistochemical analysis in making a definitive diagnosis.
This case describes a 46-years old woman who initially presented with myopathy and arthropathy (i.e. musculoskeletal manifestations), which delayed the recognition of antisynthetase syndrome (ASS) and contributed for considering the condition as seronegative rheumatoid arthritis for several years. During the next few years, the patient was progressively worsening, with a disability to stand up from a sitting position, gradual onset of exertional dyspnea, difficult-to-control dry cough and thick, hyperkeratotic skin of both hands (mechanic’s hands). This constellation of symptoms was highly suspicious for ASS and additional serological and radiological examinations were done which confirmed the diagnosis of ASS. The need for further detailed investigation when an interstitial lung disease overlaps with a known rheumatoid condition is obligatory, as shown in this case. A multidisciplinary evaluation is highly recommended to evaluate the clinical, serological and radiological findings in each patient suspected for ASS in order to establish early diagnosis and timely management.
Background:The determination of blood flow rate (BFR) is a useful tool for assessing the function of arteriovenous fistula (AVF).Methods: Eighty patients with a newly created radio cephalic AVF were analyzed. Hemodynamics and morphological characteristics of the blood vessels were assessed by Doppler ultrasound.Results: The mean age of patients was 59.9 ± 13.5 years. A successful rate of AVF maturation was 62.5% at 8 weeks. Six adjusted models of multivariate analysis showed that BFR at Day 1 was a predictor for AVF maturation both at 4 weeks (p < 0.001) and 8 weeks (p < 0.001). Receiver operating characteristic analysis showed an optimal cut-off point for BFR at Day 1 of 395 ml/min for successful maturation at 4 weeks (sensitivity 0.714, specificity 0.889) and 344 ml/min for successful maturation at 8 weeks (sensitivity 0.860, specificity 0.867). Conclusion: BFR at Day 1 is a powerful predictor for successful AVF maturation at 4 and 8 weeks. K E Y W O R D S arteriovenous fistula, blood flow, Doppler ultrasound, hemodialysis patients 1 | INTRODUCTION Vascular access is a "gate" of life in patients with kidney failure on maintenance hemodialysis (HD) [1]. An arteriovenous fistula (AVF) is the best option of vascular access for HD patients due to a lower risk of infection, longer duration, and a low rate of hospital admission and mortality, compared with central venous catheters (CVCs) and arteriovenous grafts [2].Moreover, adequate vascular access is a significantly lower burden to healthcare systems and patient budgets [3]. Therefore, the factors playing a role in vascular access patency and cost merit attention and research.
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