The Hepcidin and 25-OH-Vitamin D Levels in Obese Children as a Potential Mediator of the Iron Status.

BACKGROUND: Obesity is associated with the risk factors such as iron and vitamin D deficiencies. Increased risk of iron deficiency generally correlates with the high levels of serum hepcidin in obese children. Vitamin D deficiency was also linked to an increase in serum hepcidin levels. We aimed to compare iron parameters and investigate the hepcidin levels in obese and non-obese children. METHODS: This study included 83 children and adolescents including obese (n = 35) and non-obese (n = 48). Laboratory values including serum iron levels, total iron-binding capacity, percentage of transferrin saturation, ferritin, reticulocyte parameters and high sensitivity C-reactive protein (hsCRP), hepcidin, 25-OH-Vitamin D were measured. RESULTS: Average levels of hepcidin, hsCRP, and ferritin were found to be similar in both study groups. Serum iron levels, total iron-binding capacity, percentage of transferrin saturation, and 25-OH-vitamin D levels were significantly lower in the obese group. There was no statistically significant difference between hepcidin and 25-OH-vi-tamin D levels. Average hepcidin levels were detected to be similar in both groups (p = 0.580) whereas, 25-OH-vi-tamin D levels were significantly lower in the obese group (p < 0.001). A statistically negative correlation was observed between average BMI (body mass index) and serum iron level (r = -0.476; p < 0.001), BMI and transferring saturation (r = -0.467; p < 0.001), and BMI and 25-OH-vitamin D levels (r = -0.474; p < 0.001). Hence, no statistically significant relation was detected between hepcidin and 25-OH-vitamin D levels (r = 0.233; p = 0.084). Being female, vitamin D deficiency, and IRF (%) (Immature Reticulocyte Fraction) were found as independent risk factors for BMI increase due to logistic regression analyses. CONCLUSIONS: In conclusion, observed statistical associations and correlations do not prove a causal relationship between the hepcidin levels and iron deficiency but vitamin D deficiency seems likely to cause high BMI levels or in contrast, obesity may cause vitamin D deficiency in the children. No association was found between hepcidin, ferritin, and hsCRP levels with obesity in children. However, vitamin D deficiency was detected to cause a 5.3-fold increase in BMI levels. We suggest that there may be different mechanisms in obesity-related metabolic and hematological events. One can also envision that there is not enough time for the chronic inflammation processes to develop during childhood as opposed to those frequently seen in adult obese individuals.

Evaluation of thyroid hormones in children receiving carbamazepine or valproate: a prospective study.

The aim of this study was to determine the alterations in thyroid function during carbamazepine or valproate monotherapy in a prospective study. Forty patients treated with valproate, 33 patients treated with carbamazepine, and 36 control patients, all aged between 2 and 18 years, were enrolled in our study. Serum levels of thyroid hormones were measured before the beginning of the antiepileptic therapy and at 6 and 12 months of treatment. Carbamazepine-treated patients showed mean serum thyroid hormone levels significantly lower than baseline evaluation and the control group. Thyroid-stimulating hormone levels at 6 and 12 months were not significantly different in carbamazepine treated patients. Serum hormone levels did not change during valproate treatment. Thyroid-stimulating hormone levels were significantly higher at the 12th month of valproate treatment. Our data suggest that although carbamazepine causes significant alterations in thyroid hormone levels, these changes do not lead to clinical symptoms at the follow-up period of 12 months.

Use of urinalysis as a screening tool for asymptomatic infants.

AIM: The utility of screening urinalysis in asymptomatic children has been questioned based on studies done in school-age children or adolescents. The American Academy of Pediatrics (AAP) recommended to abandon this screening in 2007 but many paediatricians perform it at some point during childhood. Thus, we aimed to investigate usefulness of screening urinalysis during infancy. METHODS: We retrospectively reviewed results of screening urinalysis done in infants at 6-18 months of age who had regular care since birth at our centre. Infants with an ICD-10 (International Classification of Diseases, Tenth Revision) diagnostic code for routine child health exam (Z00.1) and a urinalysis requested with this code on the same date were included. RESULTS: A total of 683 infants met the inclusion criteria. 44 (6%) had an abnormal urinalysis. The most common abnormality (n = 39, 5,7%) was pyuria. Of these 39 babies, 5 had a repeat urinalysis only, 18 had a repeat urinalysis with urine culture, and 16 had a urine culture alone. Six patients had positive culture results and were given antibiotic treatment. All six babies who received treatment had normal ultrasound and two patients had a voiding cystourethrography, which were also normal. The other abnormalities (n = 5) detected were microscopic hematuria and proteinuria. Repeat urinalyses of these patients were normal. CONCLUSION: Screening urinalysis results were abnormal in 6% of the babies, but in 86% of those, abnormalities were transient. Only <1% had positive culture results. These data add to the evidence that screening urinalysis during infancy is unjustified supporting the AAP 2007 recommendations.

Severe tricuspid regurgitation secondary to dislodgement of the atrial loop into the right ventricle: an unusual complication of pacemaker implantation in a young adult.

Transvenous pacemaker leads may impair tricuspid valve function. Severe tricuspid regurgitation due to leaflet adhesion to the pacemaker lead has not been reported in a young adult patient in the literature. Our patient underwent a transvenous pacemaker implantation for symptoms of bradycardia. An atrial loop was created in the right atrium for future growth. After 10 years of follow-up, the patient was seen with severe tricuspid regurgitation and enlarged right heart structures due to migration of the atrial loop of the pacemaker lead into the right ventricle and adhesion of the lead to the tricuspid valve. Cardiac surgery and epicardial pacing was the chosen procedure to solve this problem. The venous system and right heart valves should be carefully observed during the follow-up of children who underwent transvenous pacing.

Clinical variability of Waardenburg-Shah syndrome in patients with proximal 13q deletion syndrome including the endothelin-B receptor locus.

Waardenburg-Shah syndrome (Waardenburg syndrome type IV-WS4) is an auditory-pigmentary disorder that combines clinical features of pigmentary abnormalities of the skin, hair and irides, sensorineural hearing loss, and Hirschsprung disease (HSCR). Mutations in the endothelin-B receptor (EDNRB) gene on 13q22 have been found to cause this syndrome. Mutations in both alleles cause the full phenotype, while heterozygous mutations cause isolated HSCR or HSCR with minor pigmentary anomalies and/or sensorineural deafness. We investigated the status of the EDNRB gene, by FISH analysis, in three patients with de novo proximal 13q deletions detected at cytogenetic analysis and examined the clinical variability of WS4 among these patients. Chromosome 13q was screened with locus specific FISH probes and breakpoints were determined at 13q22.1q31.3 in Patients 1 and 3, and at 13q21.1q31.3 in Patient 2. An EDNRB specific FISH probe was deleted in all three patients. All patients had common facial features seen in proximal 13q deletion syndrome and mild mental retardation. However, findings related to WS4 were variable; Patient 1 had hypopigmentation of the irides and HSCR, Patient 2 had prominent bicolored irides and mild bilateral hearing loss, and Patient 3 had only mild unilateral hearing loss. These data contribute new insights into the pathogenesis of WS4.

Incidental raised transaminases: a clue to muscle disease.

Twenty-one patients with incidental hypertransaminasaemia who were eventually diagnosed as muscular dystrophy are described. There were two females and 19 males aged between 2 and 11 years [mean (SD) 6.7 (3.4) y]. Serum alanine and aspartate transaminase levels were between 73 and 595 IU/L (30-35) and 68 and 550 IU/L (30-35), respectively. Muscle disease was suspected when creatine phosphokinase levels were elevated and confirmed in each patient by muscle biopsy. The time interval between incidental hypertransaminasemia and the diagnosis of muscle disease was between 3 and 12 months. Eleven patients were diagnosed as Becker's muscle dystrophy, eight as Duchenne muscle dystrophy and two had sarcoglycanopathy. Long-term elevation of transaminase levels might be a sign of occult muscle disease. Invasive tests such as liver biopsy should not be performed in patients with unexplained hypertransaminasaemia without first determining creatinine phosphokinase levels.

The effect of ribavirin on bone density in patients with chronic hepatitis C treated with interferon-ribavirin therapy.

OBJECTIVE: The objective of this study was to investigate the effects of ribavirin on bone mineral metabolism in patients with chronic hepatitis C who had been treated with interferon and ribavirin. METHODS: Twenty patients (3 female, 17 male) with chronic hepatitis C were enrolled. Age range was 6 to 15 years (mean+/-SD, 11.15+/- 2.3 years). Thirteen patients received combined interferon alpha-2b and ribavirin therapy (Group 1), and 7 patients received only interferon alpha-2b (Group 2). Both groups were treated for 12 months. Bone mineral density, z-scores and biochemical bone markers were evaluated in both groups before and after treatment. RESULTS: There were no significant differences between the groups in age or gender. Mean lumbar vertebral bone mineral density and mean z-scores in groups 1 and 2 before and after treatment were not significantly different. In both groups, serum and urinary biochemical values and bone markers were all normal and there were no differences between the pretreatment and post-treatment values. CONCLUSION: Contrary to studies in adults, we did not find any ribavirin-dependent changes related to bone mineral metabolism in our pediatric study groups. Further studies are needed to obtain more detailed information about the effects of ribavirin on bone mineral density.

Brunner's gland adenoma: a rare cause of vomiting.

UNLABELLED: Upper gastrointestinal system adenoma is generally seen amongst elderly patients and quite rarely seen during the childhood. A 14-y-old female patient was referred to our hospital with complaints of vomiting and abdominal pain. She had been followed up for 6 y with the diagnosis of familial intermittent fever and chronic renal failure due to amyloidosis. Endoscopic examination of the upper gastrointestinal system revealed mild hyperaemia in the corpus and antrum, and a polyp of 0.5x0.5 cm with an ulcerated and pedunculated top in the bulbus. Brunner's gland adenoma was diagnosed by the histopathological examination of the lesion following polypectomy. CONCLUSION: Brunner's gland adenoma is usually asymptomatic; however, it may reveal clinical findings such as obstruction, bleeding or intussusception, especially in uraemic patients. Thus, we would like to emphasize that, in patients with chronic renal failure and acute onset vomiting and abdominal pain, Brunner's gland adenoma should be considered in the differential diagnosis.

Spondyloenchondrodysplasia: clinical variability in three cases.

Spondyloenchondrodysplasia is a very rare skeletal dysplasia in which multiple enchondromata exist in the metaphyses of the long bones with platyspondyly. We present three patients (two of them are sibs) with spondyloenchondrodysplasia. The first patient was a 10-year-old boy, who had short stature and enchondromatous-like lesions in the metaphyses of the long bones and platyspondyly on radiography. His older sister (21-years old) had received growth hormone therapy 12 years earlier due to short stature, and her radiological findings were similar but milder than her brother. Both the sibs had normal intelligence and no calcification of the basal ganglia. The third patient was a 6-year-old boy who had short stature, mental retardation, enchondromatous-like lesions in the metaphyses of the long bones and platyspondyly. His cranial BT showed calcification of basal ganglia. The findings of the two sibs in the first family were compatible with spondyloenchondrodysplasia. The difference in clinical severity between the siblings shows the variability within the family. The third case with mental retardation and the presence of intracranial calcifications is compatible with spondyloenchondrodysplasia with basal ganglia calcification. In conclusion, we suggest that family screening and cranial imaging for the presence of intracranial calcifications should be considered in every patient with the diagnosis of spondyloenchondrodysplasia.

Congenital cutis laxa syndrome: type II autosomal recessive inheritance.

Cutis laxa is a term that refers to markedly loose skin that is not hyperelastic. It is regarded as a genetically heterogeneous group of diseases and is presently divided into five types. We report a male patient with type II autosomal recessive disease. The patient was the third child of first-cousin consanguineous, healthy parents. His two siblings died a few hours after birth. One of the siblings also had similar features and wrinkled skin. Our case had markedly loose and wrinkled skin especially over the dorsum of the hands and feet, and on the face and abdomen, dolichocephaly, hypertelorism, blepharochalasis, long filtrum, pectus excavatus, large fontanelles, prominent low-set ears and umbilical hernia. These findings and skin biopsy were consistent with cutis laxa syndrome. In addition to these findings, consanguinity, atypical facies, large fontanelles and umbilical hernia were typical manifestations of type II autosomal recessive cutis laxa.

Bone marrow hypoplasia during Brucella infection.

Pancytopenia, although mainly reported in adults, has also been described in children with brucellosis. However, bone marrow hypoplasia is a rare feature of the infection. An 11-year-old boy was admitted with fever, vomiting, and abdominal pain of 10 days' duration. On physical examination, pallor and high fever were detected in the absence of lymphadenopathy and hepatosplenomegaly. His hemoglobin was 8.6 g/dL, white blood cell count 1,100/mm(3), neutrophil count 500/mm(3), platelets 56,000/mm(3), and reticulocytes 0.1%. Hypocellular bone marrow was found by aspiration, and bone marrow biopsy revealed hypocellularity. The agglutination titer was greater than 1/640. Trimethoprim/sulfamethoxazole was prescribed. His fever subsided and pancytopenia subsequently improved. Pancytopenia associated with brucellosis is attributed to hypersplenism, hemophagocytosis, and granulomatous lesions of the bone marrow, which is usually hypercellular. Bone marrow hypoplasia is rarely reported and should be kept in mind in the etiology of aplastic anemia in a country where brucellosis is frequently encountered.