Introduction: Carnitine deficiency is an autosomal recessively inherited disease characterized by a low carnitine concentration in plasma and tissues. Primary carnitine deficiency (PCD) is caused by a deficiency in the plasma membrane carnitine transporter, with urinary carnitine wasting causing systemic carnitine depletion. The most common presentation of PCD is hypoketotic hypoglycemic encephalopathy. Cardiomyopathy can also be seen. Case Report: A 9-month-old girl was admitted to our clinic with wheezing, respiratory distress and nighttime cough. She was pale, expirium was prolonged, breath sounds were coarse bilaterally and were increased in the right hemithorax. Results: She had hypochromic microcytic anemia and the serum CPK level was elevated. Cardiothoracic index was increased (0.62). In the chest X-ray there was hyperaeration especially in the upper regions of the left lung, and paracardiac infiltration in the right lung. The echocardiogram showed dilated cardiomyopathy. In pulmonary perfusion scintigraphy, perfusion of the right lung was 26% and of the left lung 74%. Cardiomegaly and dilatation in main the pulmonary artery was detected in the MR angiogram. Plasma carnitine and acylcarnitine levels were found to be significantly low. Fat accumulation in myocytes and rare atrophic fibers were detected in a muscle biopsy. Oral carnitine supplementation was started at a dose of 100 mg/kg. All the symptoms and findings regressed within a short period of time. Discussion: This case was presented to emphasize that carnitine deficiency can present with respiratory tract symptoms like wheezing and recurrent respiratory tract infections. Although PCD usually presents with hypoketotic hypoglycemia in infants, it also has to be suspected in the etiology of dilated cardiomyopathy. Treatment is very easy and lifesaving once the correct diagnosis is made, and the prognosis is excellent with lifelong carnitine supplementation.
Objective: This study was intended to show the effects of melatonin (MEL) in the treatment of cartilage damage in a rat model as a novel field of application. Materials and Methods: Male Sprague Dawley rats aged 3-4 months were assigned into four groups of six rats each. Group I represented the sham group. In groups 2, 3, and 4, the right knee medial meniscus was surgically destabilized. MEL was administered to groups 3 and 4 twice a week at dosages of 0.4 μg/ml and 4 μg/ml, respectively. The application continued for four weeks. Histological examinations, imaging studies [computed tomography and magnetic resonance imaging], and biochemical tests [cartilage and bone turnover markers (COMP and CTX-I)] were performed. Results: The application of MEL initiated regeneration in the damaged areas. However, cartilage repair was not observed in areas with experimental cartilage damage without MEL application. MEL-treated rats had higher T2 scores compared to Group 1 in the median femoral condyle at the 12th week (p<0.05). Serum COMP and CTX-I levels at 12 weeks were significantly higher in Group 2 compared to Group 1 (p<0.05). Serum COMP and CTX-I levels at 12 weeks were lower in groups 3 and 4, but were also significantly higher than in Group 1 (p<0.05). Conclusion: We recommend MEL therapy for diseases related to cartilage damage. MEL seems to exert its therapeutic effect on cartilage damage through its antioxidant properties.
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