Clinical and Demographic Evaluation According to MEFV Genes in Patients with Familial Mediterranean Fever.

The present study examined the relationship between clinical findings and mutation analyses in children with Familial Mediterranean Fever (FMF) in the inner Black Sea region of Turkey. This retrospective, cross-sectional study included patients with FMF who were evaluated between 2007 and 2015. FMF was diagnosed according to the Tel Hashomer criteria. FMF mutations were analyzed using a Real-time PCR System (Roche Diagnostics, Mannheim, Germany), and patients were classified into three groups according to allele status. The most common symptom was abdominal pain (99%, n = 197). The most frequent mutations were M694V and R202Q. Chest pain was reported more often in patients homozygous for M694V (61.4%). Although fever, abdominal pain, and arthritis were more commonly observed with the M694V mutation, chest pain was the most common symptom in R202Q carriers (n = 10, 32.3%). Proteinuria was observed in 42 (21.2%) patients, frequently accompanied by the M694V mutation (28.6%). The most common mutations in children with FMF in Turkey were M694V and R202Q. Recurrent abdominal pain and arthritis/arthralgia were commonly observed in patients with M694V and R202Q mutations. Moreover, chest pain was commonly seen with the R202Q mutation. Thus, R202Q might be a disease-causing mutation in FMF patients.

Assessment of renal function in obese and overweight children with NGAL and KIM-1 biomarkers.

INTRODUCTION: Aim and background: the incidence of obesity has increased among children, and obesity has been considered an independent risk factor for chronic kidney disease. We aimed to determine the degree of kidney function impairment by evaluating urine neutrophil gelatinase-associated lipocalin (NGAL) and kidney injury molecule-1 (KIM-1) levels. Materials and methods: in total, 15 obese, 26 overweight, and 26 control adolescents aged 10 to 16 years were enrolled into the study. Urine samples were evaluated for NGAL and KIM-1 levels using enzyme-linked immunosorbent assay kits. We investigated the association between obesity and related comorbidities with urinary NGAL and KIM-1 excretion. Results: no significant differences were noted between the obese, overweight, and control groups in urinary NGAL and KIM-1 excretion (p = 0.327 and p = 0.917, respectively). In the obese and overweight groups urinary NGAL levels were 50.39 [30.88-74.22] in females and 26.67 [23.24-45.59] in males (p = 0.013). Also, urinary NGAL levels were increased in obese and overweight adolescents with LDL dyslipidemia at 64.12 [30.98-114.32] as compared to those without LDL dyslipidemia: 39.51 [25.59.56.37] (p = 0.024). Furthermore, a correlation was observed between insulin and homeostasis model assessment of insulin resistance levels with the NGAL/creatinine ratio in the overweight group (r = 0.515; p = 0.008, and r = 0.483; p = 0.014, respectively). Such correlation was not found in the obese group. Conclusion: the effect of obesity on renal function could not be determined in children. A longer exposure may be required for obesity-induced disruption of renal function in children. Renal function may be disrupted by dyslipidemia in obese adolescents. Furthermore, obesity impaired renal function in female adolescents. The normalization of these urinary markers as related to urine creatinine should be discussed.

INTRODUCCIÓN: Introducción: la incidencia de la obesidad en la edad infantil ha aumentado. Se considera la obesidad como un factor de riesgo independiente para el desarrollo de la enfermedad renal crónica. El objetivo de este estudio fue valorar el grado de alteración de la función renal evaluando los niveles urinarios de NGAL y KIM-1. Material y métodos: el estudio incluyó a 15 adolescentes con obesidad, 26 con sobrepeso y 26 controles sanos.Edades de los participantes entre los 10 y los 16 años. Los niveles de NGAL y KIM-1 en orina se determinaron mediante kit ELISA. Se investigó asociación entre obesidad y su comorbilidad con excreción urinaria de NGAL y KIM-1. Resultados: no se encontraron diferencias significativas en la excreción urinaria de NGAL y KIM-1 entre los sujetos con obesidad, los sujetos con sobrepeso y los controles sanos (p = 0,327 y 0,917, respectivamente). En el grupo con sobrepeso y obesidad, los niveles de NGAL en las niñas fueron de 50,39 (30,88-74,22), mientras que en los niños fueron de 26,67 (23,24-45,59) (p = 0,013). Para los sujetos con dislipemia de LDL, el nivel de NGAL fue de 64,12 (30,98-114,32) frente a 39,5 (25,59-56,37) entre los que no la tenían (p = 0,024). Se encontró correlación entre los nivles de insulina, el HOMA-IR y la ratio NGAL/creatinina en el grupo con sobrepeso (r = 0,515; p = 0,008, y r = 0,483; p = 0,014, respectivamente). En el grupo con obesidad no se encontró dicha correlación. Conclusiones: se precisa una duración más prolongada para encontrar alterada la función renal en los niños con exceso de peso. La función renal puede alterarse por la dislipemia en el caso de los adolescentes con obesidad. La función renal se afecta más en las adolescentes femeninas.

Neonatal Thrombocytopenia and the Role of the Platelet Mass Index in Platelet Transfusion in the Neonatal Intensive Care Unit

Background: Neonatal thrombocytopenia is a common hematological abnormality that occurs in 20­35% of all newborns in the neonatal intensive care unit. Platelet transfusion is the only known treatment; however, it is the critical point to identify neonates who are really at risk of bleeding and benefit from platelet transfusion as it also has various potential harmful effects. Aims: To investigate the prevalence and risk factors of neonatal thrombocytopenia and its relationship to intraventricular hemorrhage in the neonatal intensive care unit and to determine whether the use of platelet mass index-based criteria could reduce the rate of platelet transfusion. Study Design: Retrospective cohort study. Methods: This study was conducted in the neonatal intensive care unit of a tertiary university hospital. The medical records of neonates in the neonatal intensive care unit with platelet counts <150×109/L between January 2013 and July 2016 were analyzed. Results: During the study period, 2,667 patients were admitted to the neonatal intensive care unit, and 395 (14%) had thrombocytopenia during hospitalization. The rate of intraventricular hemorrhage was 7.3%. Multiple logistic regression analysis showed that although lower platelet counts were associated with a higher intraventricular hemorrhage rate, the effects of respiratory distress syndrome, sepsis, and patent ductus arteriosus were more prominent than the degree of thrombocytopenia. Thirty patients (7%) received platelet transfusion, and these patients showed a significantly higher mortality rate than their non-platelet transfusion counterparts (p<0.001). In addition, it was found that the use of platelet mass index-based criteria for platelet transfusion in our patients would reduce the rate of platelet transfusion by 9.5% (2/21). Conclusion: Neonatal thrombocytopenia is usually mild and often resolves without treatment. As platelet transfusion is associated with an increased mortality rate, its risks and benefits should be weighed carefully. The use of platelet mass index-based criteria may reduce platelet transfusion rates in the neonatal intensive care unit, but additional data from prospective studies are required.

Hemophagocytosis in the Acute Phase of Fatal Kawasaki Disease in a 4 Month-Old Girl.

BACKGROUND: Kawasaki disease is a systemic vasculitis predominately affecting coronary arteries. Hemophagocytic lymphohistiocytosis can complicate the course of Kawasaki disease. Rare cases of secondary hemophagocytic lymphohistiocytosis occurring during the acute phase of Kawasaki disease have been reported. CASE REPORT: We report here a 4 month-old girl with diffuse coronary ectasia and secondary hemophagocytic lymphohistiocytosis occurring during the acute phase of incomplete Kawasaki disease. CONCLUSION: Due to the large overlap in clinical symptoms, the presence of atypical findings for Kawasaki disease should suggest the possible diagnosis of hemophagocytic lymphohistiocytosis in these patients.

Assessment of renal function in obese and overweight children with NGAL and KIM-1 biomarkers / Valoración de la función renal en niños con sobrepeso y obesidad con las moléculas NGAL y KIM-1

Aim and background: the incidence of obesity has increased among children, and obesity has been considered an independent risk factor for chronic kidney disease. We aimed to determine the degree of kidney function impairment by evaluating urine neutrophil gelatinase-associated lipocalin (NGAL) and kidney injury molecule-1 (KIM-1) levels. MATERIALS AND METHODS: in total, 15 obese, 26 overweight, and 26 control adolescents aged 10 to 16 years were enrolled into the study. Urine samples were evaluated for NGAL and KIM-1 levels using enzyme-linked immunosorbent assay kits. We investigated the association between obesity and related comorbidities with urinary NGAL and KIM-1 excretion. RESULTS: no significant differences were noted between the obese, overweight, and control groups in urinary NGAL and KIM-1 excretion (p = 0.327 and p = 0.917, respectively). In the obese and overweight groups urinary NGAL levels were 50.39 [30.88-74.22] in females and 26.67 [23.24-45.59] in males (p = 0.013). Also, urinary NGAL levels were increased in obese and overweight adolescents with LDL dyslipidemia at 64.12 [30.98-114.32] as compared to those without LDL dyslipidemia: 39.51 [25.59.56.37] (p = 0.024). Furthermore, a correlation was observed between insulin and homeostasis model assessment of insulin resistance levels with the NGAL/creatinine ratio in the overweight group (r = 0.515; p = 0.008, and r = 0.483; p = 0.014, respectively). Such correlation was not found in the obese group. CONCLUSION: the effect of obesity on renal function could not be determined in children. A longer exposure may be required for obesity-induced disruption of renal function in children. Renal function may be disrupted by dyslipidemia in obese adolescents. Furthermore, obesity impaired renal function in female adolescents. The normalization of these urinary markers as related to urine creatinine should be discussed

INTRODUCCIÓN: la incidencia de la obesidad en la edad infantil ha aumentado. Se considera la obesidad como un factor de riesgo independiente para el desarrollo de la enfermedad renal crónica. El objetivo de este estudio fue valorar el grado de alteración de la función renal evaluando los niveles urinarios de NGAL y KIM-1. MATERIAL Y MÉTODOS: el estudio incluyó a 15 adolescentes con obesidad, 26 con sobrepeso y 26 controles sanos. Las edades de los participantes estaban entre los 10 y los 16 años. Los niveles de NGAL y KIM-1 en orina se determinaron mediante un kit ELISA. Se investigó la asociación entre la obesidad y su comorbilidad con la excreción urinaria de NGAL y KIM-1. RESULTADOS: no se encontraron diferencias significativas en la excreción urinaria de NGAL y KIM-1 entre los sujetos con obesidad, los sujetos con sobrepeso y los controles sanos (p = 0,327 y 0,917, respectivamente). En el grupo con sobrepeso y obesidad, los niveles de NGAL en las niñas fueron de 50,39 (30,88-74,22), mientras que en los niños fueron de 26,67 (23,24-45,59) (p = 0,013). Para los sujetos con dislipemia de LDL, el nivel de NGAL fue de 64,12 (30,98-114,32) frente a 39,5 (25,59-56,37) entre los que no la tenían (p = 0,024). Se encontró correlación entre los nivles de insulina, el HOMA-IR y la ratio NGAL/creatinina en el grupo con sobrepeso (r = 0,515; p = 0,008, y r = 0,483; p = 0,014, respectivamente). En el grupo con obesidad no se encontró dicha correlación. CONCLUSIONES: se precisa una duración más prolongada para encontrar alterada la función renal en los niños con exceso de peso. La función renal puede alterase por la dislipemia en el caso de los adolescentes con obesidad. La función renal se afecta más en las adolescentes femeninas. En el artículo se discute la normalización de estos marcadores urinarios con la creatinina en orina