Notes

Skin color supportive neural action being a biomarker involving conditioning.
Soon after, she developed necrotic ulcerative skin lesions and cyclosporine was added to her treatment regimen. By this treatment all muscle and skin manifestations were controlled but on the first year of follow-up she developed superficial calcification plaques on the upper extremities and calcinosis universalis like calcifications on the lower extremities. Calcifications did not respond to bisphosphonate (pamidronate) and IVIG treatment but mycophenolate mofetil resulted in rapid and sustained resolution of all calcification plaques.Yalçın K, Tüysüz G, Kazan S, Gürer Eİ, Karaali K, Küpesiz A, Güler E. An infant with intradural extramedullary synovial sarcoma the youngest case in the literature. Turk J Pediatr 2019; 61 765-770. Spinal cord involvement of synovial sarcoma is extremely rare. So far only two cases have been reported. Herein we describe the youngest case in the literature. She is 14-month-old and first presented with difficulty in walking ongoing for a week. Imagining showed a spinal cord mass at C5-T3 levels. The patient had gone under Decompressive surgery and histopathologic examination of the specimen revealed the presence of synovial sarcoma. Although the tumor regressed after chemotherapy, she was lost due to viral pneumonia. Synovial sarcoma should be kept in mind while evaluating spinal tumors even in infantile group.Bedük Esen ÇS, Gültekin M, Aydın GB, Akyüz C, Karlı Oğuz K, Orhan D, Cengiz M, Gürkaynak M, Yıldız F. Ewing sarcoma in an infant and review of the literature. Turk J Pediatr 2019; 61 760-764. Ewing sarcoma (ES) is a rare tumor in infants and prognosis is controversial. There are no standard recommendations for treatment in such very young patients. Generally, radiotherapy (RT) is not a part of treatment in infants due to the risk of severe late side effects. In this case report, we report a 7-month-old boy with diagnosis of left mastoid bone ES with lung metastases at diagnosis, showing a rapidly fatal outcome despite aggressive systemic chemotherapy and RT without surgery.Değerliyurt A, Gezgen Kesen G, Ceylaner S. Ataxia, tremor, intellectual disability a case of STXBP1 encephalopathy with a new mutation. Turk J Pediatr 2019; 61 757-759. STXBP1 gene mutations are among the most common mutations in earlyonset epileptic encephalopathies. The clinical spectrum of STXBP1 mutations is not limited to epileptic phenotypes and also includes atypical Rett syndrome and non-syndromic sporadic severe intellectual disability. Tremor, dystonia, choreiform movements, stereotypical head movements and ataxia may also be seen. However, the phenotypical spectrum is not as well-known as the other common SCN1A or CDKL5 gene mutations, making the clinical diagnosis difficult and usually requiring gene panel studies or whole exome sequencing for the diagnosis. We present a 17-year-old male patient whose seizures started at the age of 12 years. The patient could only make limited eye contact, would continuously scream, and also had severe intellectual disability, marked ataxic walking and a very significant coarse tremor. The patient was clinically thought to have STXBP1 encephalopathy due to the presence of severe intellectual disability together with tremor, and ataxia. STXBP1 gene analysis revealed a new c.9_13delCATTG (pIle4Profs*12) (p.I4Pfs*12) (heterozygous) frameshift mutation. In conclusion, STXBP1 encephalopathy should be considered if severe intellectual disability is accompanied by severe tremor and ataxia in a patient with epileptic and developmental encephalopathy. A normal head circumference supports the diagnosis in such patients.Rezapur Shahkolai F, Bandehelahi K, Karimi Shahanjarini A, Farhadian M. The factors related to mother's beliefs and behaviors concerning the prevention of poisoning among children under the age of five, using the Health Belief Mode. Turk J Pediatr 2019; 61 749-756. Poisoning is a major public health problem and children younger than five years of age are more likely to be exposed to injury events such as poisoning. The aim of this study is to investigate the factors associated with the mothers' beliefs and behaviors in relation to poisoning prevention among children under five years of age, considering the Health Belief Model (HBM). This cross-sectional study was conducted among 580 mothers with at least one child under the age of five that had been referred to a health center in Hamadan County, Iran, in 2017. The participants were selected randomly, using cluster sampling method. Data were collected through interviews, by trained interviewers, and using a questionnaire developed by the authors. This study showed the statistically significant relationship between mothers' behavior concerning the prevention of poisoning in children under the age of five years and the variables of the gender of children (P=0.014); mother's education level (P less then 0.001) and occupation (P=0.001); and father's education level (P less then 0.001) and occupation (P less then 0.001). Moreover, mothers' related knowledge and, according to HBM constructs, mothers' perceived susceptibility (p less then 0.001) and perceived severity (p= 0.004) regarding poisoning among their children, cues to action (p=0.041) and their self-efficacy (p=0.012) were more powerful predictors for prevention of poisoning among children under the age of five. This study indicates that the HBM, highlighting the four constructs can be helpful to design educational interventions for improving the behaviors of mothers regarding poisoning prevention among children under the age of five years.Umay E, Gündoğdu İ, Öztürk EA. Reliability and validity of the pediatric feeding and swallowing disorders family impact scale for Turkish children with cerebral palsy by endoscopic evaluation. Turk J Pediatr 2019; 61 741-748. The caregivers of children with cerebral palsy (CP) have high mood disorders and stress levels. This study was aimed to conduct validity and reliability of Turkish version of The Pediatric Feeding and Swallowing Disorders Family Impact Scale (PFSDFIS) by using an objective method. This study was performed in our physical medicine and rehabilitation (PMR) clinic between July 2016 and July 2018. This study was performed with 251 children with CP who had complaint of swallowing and/or feeding problems, and their primer caregivers. Humancathelicidin Cronbach`s alpha and corrected item-total correlations were used to assess internal consistency. Test and retest reliability studies were also conducted. The construct validity was assessed using the dysphagia level defined with flexible fiberoptic endoscopic evaluation of swallowing and Impact on Family Scale (IFS). Total score of T-PFSDFIS was correlated to the dysphagia level by using FEES. Results showed, Cronbach's alpha value of the scale to be 0.821. Corrected item-to-total correlations ranged from 0.729 to 0.911. link2 Test-retest reliability coefficients was calculated with intra-class correlation coefficient (ICC), the total score was 0.989. A negative significant good level correlation was found between the dysphagia level by using endoscopic evaluation and the T- PFSDFIS total score as well as between total scores of IFS and T-PFSDFIS. In subgroup analysis; the lowest value was in normal swallowing and significantly different from all dysphagia levels. In conclusion; this scale is effective in reflecting the influence of caregivers on the severity of dysphagia measured objectively and T-PFSDFIS is a valid and reliable scale for Turkish children with CP.Başaran Ö, Çetin İİ, Aydın F, Uncu N, Çakar N, Ekici F, Çelikel Acar B. Heart rate variability in juvenile systemic lupus erythematosus patients. Turk J Pediatr 2019; 61 733-740. Although neurological involvement has been well recognized in patients with systemic lupus erythematosus (SLE), autonomic nervous system (ANS) involvement has rarely been studied, and has shown conflicting results. The aim of this study was to evaluate the ANS functions by using heart rate variability (HRV) in juvenile patients with SLE. Sixteen juvenile-onset SLE patients and 16 healthy controls were enrolled in the study. All participants underwent 24-hour Holter electrocardiogram monitoring and HRV indices were assessed. The SLE disease activity index (SLEDAI) score was used to assess the disease activity. We analyzed the correlation between disease duration, the SLEDAI score, and the HRV domains. Overall HRV was diminished in patients with SLE compared to controls. There were negative correlations between day and night RMSSD (root-mean-square of the successive normal sinus NN interval differences) and PNN50 (percentage of successive normal sinus NN intervals > 50 ms) values, and SLEDAI (r= -0.588 p=0.017; r= - 0.607 p= 0.013; r= -0.498 p=0.049; r= -0.597 p=0.015, respectively). There were positive correlations between both day and night LF/HF values and SLEDAI (r=0.766 p=0.001; r=0.635 p=0.008, respectively). The results suggest that autonomic dysfunction exists in juvenile patients with SLE. As these children are at increased risk for cardiovascular disease, they need to be assessed for the development of autonomic dysfunction.Bilici ME, Savaş Erdeve Ş, Çetinkaya S, Aycan Z. The effect of 2000 ıu/day vitamin D supplementation on insulin resistance and cardiovascular risk parameters in vitamin D deficient obese adolescents. Turk J Pediatr 2019; 61 723-732. The aim of this study was to determine the vitamin D deficiency prevalence in obese adolescents and to investigate the effect of vitamin D supplementation on insulin resistance and cardiovascular risk parameters in obese adolescents with vitamin D deficiency. Ninety-six obese adolescents aged 10-18 years were divided in 2 groups according to their vitamin D levels Deficient group ( less then 12ng/ ml) and sufficient group (≥12ng/ml). All patients in the vitamin D deficiency group were recommended 2000IU/day vitamin D supplementation. Fifty four (56.3%) patients had vitamin D deficiency. link3 The only difference between the two groups was PTH level which was higher in the vitamin D deficiency group. Vitamin D reached sufficient levels in 22 (95.6%) out of the 23 patients with the 3 month supplementation of 2000 IU/day vitamin D. There was a significant decrease in weight Standard Deviation Score (SDS), Body Mass Index (BMI) SDS, hip circumference, total cholesterol, LDL, HbA1c, AST, PTH and interleukin-6 while no significant change was seen in measurements of glucose, insulin, HOMA-IR, C-peptide and the rate of metabolic syndrome. There were decreases in levels of total cholesterol and LDL with vitamin D treatment, while there was no significant change in insulin resistance. Vitamin D reduced interleukin-6 levels by its antiinflammatory effect.Aslan A, Erdemli S, Durukan Günaydın G, Aslan M, Yazar RÖ, Kabaalioğlu A, Ağırbaşlı MA. Cardiometabolic risk factors in Turkish children with hepatosteatosis. Turk J Pediatr 2019; 61 714-722. We aimed to investigate the prevalence of cardiometabolic (CM) risk factors (impaired fasting glucose ( > 100 mg/dL), high blood pressure, overweight or obesity, high serum triglycerides (TG) and low serum high-density lipoprotein cholesterol levels) in children with hepatosteatosis detected by abdominal ultrasound. Children whom ultrasound examination revealed hepatic steatosis were included in the study. Medical records, anthropometric and biochemical parameters were reviewed for the presence of the CM risk factors. Presence of ≥3 risk factors was defined as metabolic syndrome (MS). One hundred and forty-eight children and adolescents (67 boys, 81girls, and mean age 12.1±2.7 years) with hepatosteatosis were included. Sonographic hepatosteatosis grades of 1, 2 and 3 were observed in 111 (75%), 33 (22.3%), and 4 (2.7%) subjects, respectively.
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