A seven-year-old boy with a tumour on his right upper leg

[No Abstract Available

Association Between Soluble CD40 Ligand and Hypercholesterolemia in Children and Adolescents

Aim: Coronary heart disease is one of the most common causes of death around the world. The pathological process of coronary heart disease like atherosclerosis starts in childhood. During this period thrombosis constitutes a high-risk factor. In this study, we investigated the effect of soluble CD40 ligand (sCD40L) and clotting activation on children and adolescents with hypercholesterolemia. Materials and Methods: Plasma levels of sCD40L, P-selectin, 8-hydroxy-2-deoxyguanosine (8-OHdG), and prothrombin fragment 1+2 [(F) 1+2] were determined in thirty-five hypercholesterolemic patients (20 girls and 15 boys; age, median: 13 years) and forty healthy normocholesterolemic subjects (28 girls and 12 boys; age, median: 13 years). Results: No significant differences were observed between the patient group and controls in terms of age, high-density lipoprotein (HDL) cholesterol, 8-OHdG, F1+2 (p>0.05). However, there were significant differences between the two groups with respect to total cholesterol, low-density lipoprotein (LDL) cholesterol, very LDL cholesterol, triglycerides, sCD40L and P-selectin (p0.05). Conclusion: We believe that future prospective studies to determine the increase in the level of sCD40L with a larger sample size of a pediatric population with dyslipidemias may be more helpful in predicting the risk of cardiovascular disease

Common pathogens isolated from burn wounds and their antibiotic resistance patterns

Objective: Burn wound infections are the most severe cause of mortality in patients in the burn units. The aim of this study is to determine the bacteriological profile and their antibiotic resistance patterns in burn unit of Dicle University Hospital.Methods: Medical records of 151 burn patients admitted to the burn unit of Dicle University Hospital between June, 2008 and June 2010 were reviewed retrospectively.Results: Our study included 70.2% (n=106) male and 29.8% (n=45) female patients. The mean age of cases was 10.9±14.7 years. The rate of isolated microorganisms were 62.3% (n=94) Acinetobacter baumannii, 25.8% (n=39) Pseudomonas aeruginosa, 7.3% (n=11) Escherichia coli and 4.6% (n=7) Staphylococcus aureus. The most effective antibiotic against A. baumannii was colistin (95%) followed by levofloxacin (84%) and trimethoprimsulfamethoxazole (87%). The most effective antibiotics against P. aeruginosa were amikacin (82%), ciprofloxacin (71%) and levofloxacin (71%). The most effective antibiotics against E. coli were amikacin (91%), meropenem (73%) and imipenem (82%).Conclusion: The prevalence of burn wound infection caused by A. baumannii and multiple drug resistant A. baumannii are increasing worldwide by time. The prevalence of multiple drug resistant P. aeruginosa and E. coliare rising also. So, new strategies of infection prevention should improve as soon as possible.Key words: Burn units, wound infection, multiple drug resistance, antibiotics, Acinetobacter baumannii, Pseudomonas aeruginos

Vitamin D Levels and Bone Mineral Density in Inborn Errors of Metabolism Requiring Specialised Diets

Objective: To evaluate vitamin D levels and bone mineral density in patients with dietary limitations due to inborn errors of metabolism (IEM) and its correlation with diets. Study Design: Retrospective study. Place and Duration of Study: Department of Pediatrics, Division of Pediatric Metabolism and Nutrition, Gazi University Hospital, Turkey, from March to Semtember 2016. Methodology: The study is a retrospective review of 115 patients. Information about vitamin D status, bone mineral density (BMD) measurement and anthropometric parametres were collected. Patients were divided into two major groups, receiving protein-restricted diets (n=83) and lactose-restricted diets (n=32). Data of 110 healthy children were used as the control group. Results: Mean vitamin D level of patients with special diets 28.1 +/- 14.9 ng/ml while mean level of healthy controls was 26.6 +/- 12.27 ng/ml. Levels of 26.8\% (n=26/97) patients were found to be deficient and 34\% (n=33/97) were found to be insufficient. No statistically significant differences were found between vitamin D levels and BMD of patients and healthy controls. BMD was not influenced by vitamin D levels. Conclusion: Low BMD may be encountered in IEM, independent of vitamin D levels and revision of diet for adequacy of essential nutrients; and follow-up for dietary compliance is inevitable

Audiologic evaluations of children with mucopolysaccharidosis

ABSTRACT INTRODUCTION: Mucopolysaccharidosis is a hereditary lysosomal storage disease, which develops due to a deficiency in the enzymes that play a role in the metabolism of glycosaminoglycans (GAG). The incidence of mucopolysaccharidosis is 1/25,000, with autosomal recessive inheritance (except for MPS II). Mucopolysaccharidosis occurs in seven different types, each with a different congenital deficiency of lysosomal enzymes. In mucopolysaccharidosis patients, even though progression of clinical findings is not prominent, the disease advances and causes death at early ages. Facial dysmorphism, growth retardation, mental retardation, and skeletal or joint dysplasia are the most frequently found symptoms in these patients. OBJECTIVE: The purpose of our study is to present the types of hearing loss types and tympanometric findings of patients with mucopolysaccharidosis referred to our clinic with suspicion of hearing loss. METHODS: After otorhinolaryngological examination, 9 patients with different types of mucopolysaccharidosis, underwent to immittance and audiometric evaluations, performed according to their physical and mental abilities, and ages, in order to determine their hearing thresholds. RESULTS: The audiometric findings of the 9 patients followed with mucopolysaccharidosis were reported separately for each case. CONCLUSION: Based on the high frequency of hearing loss in mucopolysaccharidosis patients, early and detailed audiological evaluations are highly desirable. Therefore, regular and systematic multidisciplinary evaluations are very important

Citrullinemia with an Atypical Presentation: Paroxysmal Hypoventilation Attacks.

Citrullinemia type 1 (CTLN1) is a rare inherited urea cycle disorder, which resulted from the deficiency of argininosuccinate synthetase enzyme. We presented an infant who was hospitalized because of acute losses of tonus and cyanotic hypoventilation attacks lasting approximately 4-5 min. The physical and neurological examinations were normal. Ammonia level was in the normal range. Citrulline levels increased in both blood and urine. The blood sample was sent to mutation analysis, which showed one novel and one known mutation on ASS1 gene sequencing: a heterozygous novel mutation p.A94V (c.281C>T) and a heterozygous mutation p.W179R (c.535C>T). Urea cycle disorders should be considered in the differential diagnosis of unexplained brief apnea or hypoventilation attacks, even though those symptoms do not lead to hyperammonemia during infancy and childhood as seen in our patient. This is the first case in terms of atypical clinical presentation with a new mutation for CTLN1

The Janus-faced manifestations of homozygous familial hypobetalipoproteinemia due to apolipoprotein B truncations

Familial hypobetalipoproteinemia is a codominant disorder characterized by low plasma levels of low-density lipoprotein cholesterol and apolipoprotein B (apoB), which in 3c50% of the cases is due to mutations in APOB gene. In most cases, these mutations cause the formation of truncated apoBs of various sizes, which have a reduced capacity to bind lipids and form lipoprotein particles. Here, we describe 2 children with severe hypobetalipoproteinemia found to be homozygous for novel APOB gene mutations. The first case (HBL-201) was an asymptomatic 13-year-old boy incidentally found to have slightly elevated serum transaminases associated with hepatic steatosis. He was homozygous for a truncated apoB (2211 amino acids, apoB-48.74) whose size is similar to that of wild-type apoB-48 (2152 amino acids) produced by the intestine. ApoB-48.74 is expected to be incorporated into chylomicrons in the intestine but might have a reduced capacity to form secretion-competent very low-density lipoprotein in the liver. The second patient (HBL-96) was a 6-month-old girl suspected to have abetalipoproteinemia, for the presence of chronic diarrhea, failure to thrive, extremely severe hypobetalipoproteinemia, and low plasma levels of vitamin E and vitamin A. She was homozygous for a nonsense mutation (Gln513*) resulting in a short truncated apoB (apoB-11.30), which is not secreted into the plasma. In this patient, the impaired chylomicron formation is responsible for the severe clinical manifestations and growth retardation. In homozygous familial hypobetalipoproteinemia, the capacity of truncated apoBs to form chylomicrons is the major factor, which affects the severity of the clinical manifestations

Audiologic evaluations of children with mucopolysaccharidosis

Introduction: Mucopolysaccharidosis is a hereditary lysosomal storage disease, which develops due to a deficiency in the enzymes that play a role in the metabolism of glycosaminoglycans (GAG). The incidence of mucopolysaccharidosis is 1/25,000, with autosomal recessive inheritance (except for MPS II). Mucopolysaccharidosis occurs in seven different types, each with a different congenital deficiency of lysosomal enzymes. In mucopolysaccharidosis patients, even though progression of clinical findings is not prominent, the disease advances and causes death at early ages. Facial dysmorphism, growth retardation, mental retardation, and skeletal or joint dysplasia are the most frequently found symptoms in these patients. Objective: The purpose of our study is to present the types of hearing loss types and tympanometric findings of patients with mucopolysaccharidosis referred to our clinic with suspicion of hearing loss. Methods: After otorhinolaryngological examination, 9 patients with different types of mucopolysaccharidosis, underwent to immittance and audiometric evaluations, performed according to their physical and mental abilities, and ages, in order to determine their hearing thresholds. Results: The audiometric findings of the 9 patients followed with mucopolysaccharidosis were reported separately for each case. Conclusion: Based on the high frequency of hearing loss in mucopolysaccharidosis patients, early and detailed audiological evaluations are highly desirable. Therefore, regular and systematic multidisciplinary evaluations are very important. (C) 2015 Associacao Brasileira de Otorrinolaringologia e Cirurgia Cervico-Facial. Published by Elsevier Editora Ltda