RESUMO
INTRODUCTION AND IMPORTANCE: Multiple epiphyseal dysplasia, which affects the epiphysis of long bones, can show autosomal dominant and autosomal recessive inheritance patterns (Ballhausen et al., 2003 [1]). The symptoms typically appear in childhood, although they sometimes do not show symptoms until adulthood. The goals of treatment in children are to prevent the early onset of osteoarthritis, improve function, and educate patients and their families about the natural history and genetic basis of the disease. Some patients present to the clinic with only non-healing and unidentified joint pain. Although multiple epiphyseal dysplasia type 5 is a rare disease with autosomal dominant inheritance in general, it can also be observed with de novo mutation, although very rarely, without a family history. CASE PRESENTATION: 7-years-old male patient was admitted to our orthopedics outpatient clinic with complaints of joint pain, fatigue, and pain in the knees and ankles that had lasted for about 3 years. He had epicanthus, left hemifacial microsomia, and metacarpophalangeal joint laxity. The arm was proportional to the body. In the laboratory, there was no obvious finding other than vitamin D deficiency. The epiphyses, especially in the ankle, were dysplasic on Xray. After genetic tests we detected multiple epiphyseal dysplasia type 5, with de novo mutation, without family histories. CLINICAL DISCUSSION: Multiple epiphyseal dysplasia type 5, which is usually an autosomal dominant disease (Ballhausen et al., 2003 [1]) characterized by normal height; it is seen due to heterozygous mutation of matrilin-3 gene (MATN3) at 2p24.1 location. Early-onset osteoarthritis, multiple epiphyseal dysplasia, arthralgia, small proximal femoral epiphyses, wide and short femoral neck, coxa vara, high greater trochanter, small, irregular epiphyses (distal femoral, proximal tibia, distal radius, distal ulna), mild metaphyseal irregularities (distal femoral, proximal tibia, proximal humeri, distal radius, distal ulna), genu valgum may accompany. In hands; small, irregular epiphyses (first metacarpal), delayed carpal ossification may be seen. Delayed tarsal ossification can be observed in the feet. On the other hand, some patients present to the clinic with only non-healing and unidentified joint pain. Although multiple epiphyseal dysplasia type 5 a rare disease with autosomal dominant inheritance in general, it can also be observed like our case with de novo mutation, although very rarely, without a family history. CONCLUSION: Multiple epiphyseal dysplasia type 5 is a rare disease. It should be kept in mind that skeletal dysplasia should also be evaluated, although it is rarely seen in patients with persistent joint pain. Thus, we can both slow down the progression with early diagnosis of the patient and minimize the early surgical requirements.
RESUMO
Introduction: Malnutrition is defined as a pathological condition arising from deficient or imbalanced intake of nutritional elements. Factors such as increasing metabolic demands during the disease course in the hospitalized patients and inadequate calorie intake increase the risk of malnutrition. The aim of the present study is to evaluate nutritional status of patients admitted to pediatric intensive care units (PICU) in Turkey, examine the effect of nutrition on the treatment process and draw attention to the need for regulating nutritional support of patients while continuing existing therapies. Material and Method: In this prospective multicenter study, the data was collected over a period of one month from PICUs participating in the PICU Nutrition Study Group in Turkey. Anthropometric data of the patients, calorie intake, 90-day mortality, need for mechanical ventilation, length of hospital stay and length of stay in intensive care unit were recorded and the relationship between these parameters was examined. Results: Of the 614 patients included in the study, malnutrition was detected in 45.4% of the patients. Enteral feeding was initiated in 40.6% (n = 249) of the patients at day one upon admission to the intensive care unit. In the first 48â h, 86.82% (n = 533) of the patients achieved the target calorie intake, and 81.65% (n = 307) of the 376 patients remaining in the intensive care unit achieved the target calorie intake at the end of one week. The risk of mortality decreased with increasing upper mid-arm circumference and triceps skin fold thickness Z-score (OR = 0.871/0.894; p = 0.027/0.024). The risk of mortality was 2.723 times higher in patients who did not achieve the target calorie intake at first 48â h (p = 0.006) and the risk was 3.829 times higher in patients who did not achieve the target calorie intake at the end of one week (p = 0.001). The risk of mortality decreased with increasing triceps skin fold thickness Z-score (OR = 0.894; p = 0.024). Conclusion: Timely and appropriate nutritional support in critically ill patients favorably affects the clinical course. The results of the present study suggest that mortality rate is higher in patients who fail to achieve the target calorie intake at first 48â h and day seven of admission to the intensive care unit. The risk of mortality decreases with increasing triceps skin fold thickness Z-score.