Severe Rhabdomyolysis due to Henoch - Schonlein Purpura: A Case Report [Henoch-Schonlein Purpurasina Bagli Siddetli Rabdomiyoliz: Bir Vaka Takdimi]

Henoch - Schonlein purpura (HSP) is the most common vasculitic syndrome in childhood. The etiology of it infections, drugs, and autoimmune mechanisms have been implicated. It is a systemic disease associated with especially the skin, joints, gastrointestinal tract and renal involvement. Rhabdomyolysis is a clinical and biochemical syndrome that is induced by metabolic or structural abnormalities of skeletal muscles. Elevated levels of creatine kinase is the biochemical marker of rhabdomyolysis. Causes such as systemic diseases, hereditary muscle enzyme deficiencies, drugs, trauma, seizures, infection, repeated injections, and intense exercise should be considered when creatine kinase is high. However, there are the cases that is absence of any cause. In this article, we presented a case with rhabdomyolysis due to Henoch - Schonlein Purpura, and emphasized that HSP may be affect the muscles. [Med-Science 2014; 3(3.000): 1525-9

Frequency of Subclinic Hypothyroidism at the Patients That Are Using Valproic Acid

Valproic acid is one of the most commonly used anti-epileptics in the treatment of childhood epilepsy. The aim of this study was to determine the risk factors for and incidence of subclinical hypothyroidism (SH) in children with idiopathic epilepsy using valproic acid (VPA). Patients monitored with a diagnosis of idiopathic epilepsy, using valproic acid for longer than 12 months and who were seizure-free for at least 6 months were included in the study. Levels of free thyroxine, free triiodothyronine and thyrotropin were measured. The results were then compared with those of the control group. Rates of SH in patients using VPA and the control group were 18.5% and 6.2%, respectively. The difference was statistically significant (P0.01). In conclusion, SH is a common effect seen in children with epilepsy using VPA. It will be beneficial to measure thyroid functions at specific intervals. [Med-Science 2014; 3(2.000): 1155-61

Screening of MC4R, LEP, LEPR, POMC, SH2B1, and SIM1 genes in Turkish children with severe early-onset obesity

The aim of this study was to determine the prevalence of leptin (LEP), leptin receptors (LEPR), melanocortin-4-receptor (MC4R), proopiomelanocortin (POMC), single-minded 1 (SIM1), and SH2B1 gene variations in Turkish children and adolescents, and to conduct a detailed examination of the clinical and laboratory findings of patients with variants. In this study, we included 49 children and adolescents (29 male/20 female) who presented to the Pediatric Endocrinology clinic of Erzurum Regional Training and Research Hospital between 2017 and 2020 with obesity. Family history with regards to obesity, parental consanguinity, obesity-related comorbidities, anthropometric measurements, and laboratory tests of the patients were recorded in the clinical evaluation. LEP, LEPR, MC4R, POMC, SIM1, and SH2B1 genes, which are associated with monogenic obesity, were evaluated by the next generation sequencing analysis in all patients. The mean age of 49 patients included in the study was 8.4 ± 5.2 years (range: 0.616.8), their mean height standard deviation score (SDS) was 0.9 ± 1.6, mean body mass index (BMI) was 31.3 ± 8.1 kg/m2, and their mean BMI SDS was 3.5 ± 0.6. A total of four different variants (c.380C>T and c.870delG variants in MC4R gene; c.2992A>C and c.448delA variants in LEPR gene) were detected in four patients. The determination of a molecular etiology in patients with monogenic obesity is important in view of the treatment options to be introduced in the near future (MC4R agonist) and for the family to receive appropriate genetic counseling. In this study, we evaluated the clinical and genetic findings of the patients with monogenic obesity in detail, and contributed the findings of the novel variants to the literature. [Med-Science 2021; 10(2.000): 328-33

The effect of serum vitamin D levels on anemia and iron parameters in children and review of the literature [Cocuklarda serum D vitamini duzeyinin anemi ve demir parametreleri uzerine etkisi ve literatur derlemesi]

Anemia, vitamin D and iron deficiency remains a major public health problem all over the world. Vitamin D is known for its crucial role in bone and mineral metabolism and is increasingly recognized to have extra-skeletal effects on cell proliferation and differentiation, immune function and anti-inflammatory effects. In addition, vitamin D is thought to have effect on iron metabolism and erythropoiesis. The aim of this research was to determine the effect of serum 25(OH) vitamin D (25D) on anemia and iron deficiency in childhood. A hundred and five patients aged between 1-18 years who were admitted Pediatric Hematology-Oncology and Pediatric Endocrinology out-patient clinic between January 2014 and November 2015 in Erzurum Regional and Research Hospital were enrolled in the study. The patients who had signs of infection/inflammation, chronic disease and thalassemia trait were excluded from the study. Data of patients, including gender, age, complete blood count, serum levels of 25D, iron, iron binding capacity and ferritin were retrospectively reviewed. In our study, the prevelance of anemia (11.1%, 27.8%, 11.9%, respectively, p=0.2), the prevelance of iron deficiency (33.3%, 38.9%, 33.3%, respectively, p=0.9), level of serum iron (67.7±35.3 µgr/dL, 63.2±31.9 µgr/dL, 67.5±33.7 µgr/dL, respectively, p=0.8), level of serum ferritin (26±18.9 mg/L, 24±16.4 mg/L, 22.5±18.1 mg/L, respectively, p=0.4) and index of transferrin saturation (26.7±19.1%, 22.5±13.2%, 25.5±19.7, respectively, p=0.7) was not different between 25D deficient, insufficient and normal groups. Our study has not shown an association between anemia, iron deficiency and vitamin D. We think that vitamin D has effect on iron metabolism and erythropoiesis through inflammation pathways and hepsidin. Further studies is needed to evaluate the relation between vitamin D and anemia/iron metabolism. [Med-Science 2016; 5(3.000): 821-5

Effects of thiamine and thiamine pyrophosphate on epileptic episode model established with caffeine in rats

Cetin, Nihal/0000-0003-3233-8009;WOS: 000334476300006PubMed: 24434003This study examines the effect of thiamine (TH) and thiamine pyrophosphate (TPP) on epileptic episode model induced in rats with caffeine. Animals were divided into groups and given TH or TPP at doses of 10, 30 or 50 mg/kg intraperitoneally. Subsequently, all animal groups were injected intraperjtoneally with caffeine at a dose of 300 mg/kg. Time of onset of epileptic episode was recorded, and the latent period was calculated in seconds. At the end of the experiment, tGSH and MDA levels and SOD and MPO enzyme activities in extracted brain tissues were measured. Latent period duration in rats in the control group was 134 +/- 3.2 s, compared to 144 +/- 13.9, 147 +/- 14.5 and 169 +/- 15.1 s, respectively, in the TH10, TH30 and TH50 groups and 184 +/- 8.54, 197 +/- 9.1, 225 +/- 8.37 s, respectively, in the TPP10, TPP30 and TPP50 groups. Latent period duration was 236 +/- 6.7 in the diazepam group. Oxidant products were significantly lower in the TPP10, TPP30, TPP50 and diazepam groups compared to the control group (P 0.05). in conclusions, TPP, especially at a dose of 50 mg/kg, significantly prolonged the latent period from administration of caffeine to time of episode and prevented oxidative damage. (C) 2013 Elsevier B.V. All rights reserved

Comparison of Treatment Regimens in Management of Severe Hypercalcemia Due to Vitamin D Intoxication in Children

Eren, Erdal/0000-0002-1684-1053; yilmaz, gulay can/0000-0003-0525-1231; Demir, Korcan/0000-0002-8334-2422; UCAKTURK, Seyit Ahmet/0000-0001-8666-4454; Kara, Cengiz/0000-0002-8989-560XWOS: 000469271100005PubMed: 30396880Objective: No large study has been conducted to date to compare the effectiveness of prednisolone, alendronate and pamidronate as first-line treatment in children with hypercalcemia due to vitamin D intoxication. The aim was to perform a multicenter, retrospective study assessing clinical characteristics and treatment results. Methods: A standard questionnaire was uploaded to an online national database system to collect data on children with hypercalcemia (serum calcium level > 10.5 mg/dL) due to vitamin D intoxication [serum 25-hydroxyvitamin D (25(OH)D) level > 150 ng/mL] who were treated in pediatric endocrinology clinics. Results: Seventy-four children [median (range) age 1.06 (0.65-1.60) years, 45 males (61 %) from II centers] were included. High-dose vitamin D intake was evident in 77% of the cases. At diagnosis, serum calcium, phosphorus, alkaline phosphatase, 25(OH)D and parathyroid hormone concentrations were 15 +/- 3.2 mg/dl., 5.2 +/- 1.2 mg/dL, 268 +/- 132 IU/L, 322 (236-454) ng/ml, and 5.5 (3-10.5) pg/mL, respectively. Calcium levels showed moderate correlation with 25(OH)D levels (r(s) = 0.402, p <0.001). Patients were designated into five groups according to the initial specific treatment regimens (hydration-only, prednisolone, alendronate, pamidronate, and combination). Need for another type of specific drug treatment was higher in children who initially received prednisolone (p <0.000). Recurrence rate of hypercalcemia was significantly lower in children who were treated with pamidronate (p=0.02). Conclusion: Prednisolone is less effective in the treatment of children with severe hypercalcaemia secondary to vitamin D intoxication and timely implementation of other treatment regimens should be considered.Turkish Pediatric Endocrinology and Diabetes Society [2014-000522]This work was supported by a grant from the Turkish Pediatric Endocrinology and Diabetes Society (2014-000522)