Wos İndeksli Açık & Kapalı Erişimli Yayınlar
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Item Coexistence of Familial Mediterranean Fever and Hyperimmunoglobulinemia D Syndrome in a Child(2015) Yilmaz, Resul; Sezer, Taner; Esmeray, Haluk; 0000-0001-7672-8100; 0000-0002-2278-1827; A-2825-2012; AAJ-5931-2021Hereditary periodic fever syndromes are Mendelian inherited single gene diseases which are also known as hereditary autoinflammatory syndromes, are characterized by recurrent attacks of fever and inflammation. Familial Mediterranean Fever and Hyperimmunoglobulinemia D syndrome are prototypes and are inherited autosomal recessively. The diagnosis is based on clinical course, family history and is confirmed with genetic mutation analysis. We describe a 5-year-old boy who had recurrent attacks of fever, skin rash, and cervical lymphadenopathy since he was 2 years old. His genetic analysis revealed homozygous M694V and V377I for MEFV and MVK gene respectively. Due to our knowledge, this is the first report of a patient who has both HIDS and FMF clinical and genetic features.Item Pathology, Classification, Clinical Manifestations and Prognosis of Langerhan's Cell Histiocytosis: A Single Center Experience(2022) Hasbay, Bermal; Kocer, Nazim Emrah; Kayaselcuk, Fazilet; Canpolat, Emine Tuba; Buyukkurt, Nurhilal; Erbay, AyseObjective: The aim of the study is to raise awareness about clinical features, histopathological and radiological analyzes and treatment details of this rare disease. Methods: A total of 55 Langerhans cell histiocytosis patients, diagnosed between the year 2006 and October 2020 in our department were included in the study. The patients were evaluated in terms of age, gender, tumor localization, risk groups, treatment modalities, recurrence, and outcome of the disease. Results: Twenty-three out of 55 patients were children and 32 were adults. The ages of the patients were between 7 months and 72 years. Thirty-seven of the cases were male and 18 were female. The most common clinical complaint in both groups was pain and swelling. The duration between the onset of the patient complaints and admission to the hospital varies between 7 days-12 months in children, and 10 days-23 years in adults. Forty-three of the cases had single organ involvement and 12 had multiorgan involvement. The most frequently affected organ in both groups was bone. Forty of the 55 patients had follow-up data and the treatment modalities are as follows: Nine patients radiotherapy, 8 patients chemotherapy+steroid, 7 patients chemotherapy, 2 patients chemotherapy+radiotherapy+steroid, 1 patient steroid, 2 patients chemotherapy+radiotherapy. Eleven patients were followed up without additional treatment after surgery. Median follow-up from the time of biopsy was 45.9 months in children and 41.9 months in adults. Conclusions: As a result, diagnosis requires a high degree of suspicion and final diagnosis is based on the histological examination of the lesions and biopsies.Item Anocutaneous Reflex Revisited: How Valuable Is Its Determination in Children with Spina Bifida? A Descriptive Study in A Cohort of 217 Patients(2022) Ozel, Kerem; Canmemis, Arzu; Goknar, Nilufer; Candan, Cengiz; Alizada, Orkhan; Alatas, Ibrahim; 35147971AIM: To determine the clinical value of anocutaneous reflex (AR) in children with neurogenic bladder due to spina bifida (SB). MATERIAL and METHODS: Patients who were diagnosed with SB were prospectively evaluated; moreover, AR and bulbocavernous reflex were examined. Patients were divided into those with and without AR. Age, gender, diagnosis, ventriculoperitoneal shunt presence, symptomatic urinary tract infections, leg movements, clean intermittent catheterization and anticholinergic therapy, lesion level, urodynamic detrusor, and sphincter activity were evaluated. Chi-square test and univariate regression analysis were done. The AR value was evaluated by two by two contingency table. RESULTS: This study evaluated 217 patients (109 boys and 108 girls). AR was present and absent in 53 and 164 patients, respectively. Anticholinergic therapy was necessary in 37.7% and 23.8% of patients with and without AR (p=0.015), respectively. Patients with AR had higher lesion level (p=0.005), more detrusor overactivity, and less detrusor underactivity (p=0.007). Less detrusor sphincter dyssynergia (DSD) was noted in patients with AR (p=0.029). AR specificity was 83%, and positive predictive value in predicting detrusor overactivity and DSD was 76% and 80, respectively. CONCLUSION: AR determination is a valuable and simple tool in neurogenic bladder. This report delineates the clinical significance of this reflex and is the largest cohort describing this significance. This simple examination should not be skipped in the initial evaluation and follow-up of these patientsItem Association Of Pediatric Vasculitis Activity Score With Immunoglobulin A Vasculitis With Nephritis(2023) Avci, Begum; Kurt, Tuba; Aydin, Fatma; Celikel, Elif; Tekin, Zahide Ekinci; Sezer, Muge; Tekgoz, Nilufer; Karagol, Cuneyt; Coskun, Serkan; Kaplan, Melike Mehves; Bayrakci, Umut Selda; Acar, Banu; https://orcid.org/0000-0002-5375-379X; 35895124Background Immunoglobulin A vasculitis with nephritis (IgAVN) is the most serious complication affecting long-term prognosis. Understanding the risk factors and markers for the development of IgAVN is essential. The aim of this study is to identify IgAVN-associated factors and to evaluate the usability of Pediatric Vasculitis Activity Score (PVAS) at diagnosis as an early marker for the development of IgAVN. Methods We conducted a retrospective case-control study of 314 patients divided into two groups: those with nephritis (IgAVN) and without nephritis (non-IgAVN). The groups were compared in terms of clinical symptoms, laboratory values, and PVAS values. Results In total, 18.5% of the patients had IgAVN; they were older than the non-IgAVN patients (median age was 8.8, p < 0.05). Arthritis/arthralgia, abdominal pain, and intestinal bleeding were more common, systolic and diastolic BP were higher in IgAVN (p < 0.05). CRP, serum creatinine, and urine protein/Cr, PVAS were higher, while serum albumin was lower in IgAVN (p < 0.05). The receiver operator characteristic curve (ROC) analysis showed that IgAV patients with a determined cut-off PVAS value greater than 3 had 70.7% sensitivity in predicting whether or not they would develop IgAVN. Logistic regression analysis found that PVAS > 3 and low serum albumin at the time of diagnosis were independent risk factors for IgAVN. Conclusion Our study revealed that PVAS > 3 at diagnosis is an independent predictor of IgAVN. Patients with PVAS > 3 should be followed more closely to ensure early diagnosis and management of IgAVN.Item Pediatric Androgenetic Alopecia: A Retrospective Review Of Clinical Characteristics, Hormonal Assays And Metabolic Syndrome Risk Factors In 23 Patients(2022) Ozcan, Deren; https://orcid.org/0000-0002-7450-6886; 35033390; AAQ-6649-2021Background: Androgenetic alopecia in the pediatric population is rarely discussed in the literature. Although the prevalence of the metabolic syndrome is increased in patients with early-onset androgenetic alopecia, the presence of metabolic syndrome risk factors in pediatric androgenetic alopecia is unknown. Objective: To evaluate the demographics, medical and family histories, clinical and trichoscopic features, androgenic hormones, and metabolic syndrome risk factors in pediatric androgenetic alopecia. Methods: The medical reports of pediatric patients with androgenetic alopecia were reviewed. Results: The study included 23 patients (12 females and 11 males) with a mean age of 15,3 +/- 2,1 years. Sixteen patients had adolescent androgenetic alopecia and seven, had childhood alopecia. Nine patients reported a family history, all of whom had adolescent androgenetic alopecia. Hyperandrogenism was noted in three patients with adolescent androgenetic alopecia. The most common hair loss pattern was diffuse thinning at the crown with preservation of the frontal hairline which was noted in 10 patients (43.5%), six of whom were males. Fourteen patients (60.9%) had at least one metabolic syndrome risk factor. The most common risk factor was obesity or overweight (47.8%) followed by insulin resistance (21.7%), high fasting blood glucose (13%), high blood pressure (4.4%) and lipid abnormalities (4.4%). Study limitations: Retrospective study; lack of a control group. Conclusion: Pediatric androgenetic alopecia is often associated with metabolic syndrome risk factors. Therefore, androgenetic alopecia in the pediatric population may indicate a future metabolic syndrome which warrants an accurate and prompt diagnosis for early screening and treatment. (C) 2021 Sociedade Brasileira de Dermatologia. Published by Elsevier Espana, S.L.U.Item Respiratory problems and associated factors following endoscopic balloon dilatation procedure in children with acquired subglottic stenosis(2022) Tuzuner, Arzu; Bas, Ceren; Jafarov, Sabuhi; Bahcecitapar, Melike; Aydin, Erdinc; 0000-0002-7302-4199; 35037169; AAI-8044-2021Objectives Endoscopic balloon dilatation (EBD) offers a safe and non-invasive surgical option for the treatment of subglottic stenosis. Patient selection is important to achieve good results and to detect which patients are more prone to the development of complications. The aim of this study was to determine predictors of postoperative problems and early complications in primary EBD surgeries. Methods A retrospective analysis was made of patients with acquired subglottic stenosis who were operated on with the EBD technique between January 2010 and December 2019 in the Otolaryngology-Head and Neck Surgery Department of Baskent University Hospital. Demographic data including the age and sex of the patients were collected together with etiology, presence of chromosomal or craniofacial anomaly (C/CA), duration of prolonged intubation (DPI), and extubation dilatation timeframe (EDT). Intra and postoperative follow-up data were recorded of the need for intubation or tracheotomy, development of desaturation, and grade and type of stenosis. Results The male to female ratio was 2:1. The patients comprised 42 males and 22 females with a mean age of 296.52 +/- 551.93 days. The cause of prolonged intubation was surgery for congenital heart disease in 50 (78.1%) patients and prematurity in 14 (21.9%). The type of lesion was acute granulation in 44 (72.1%) and chronic granulation in 17 (27.9%) patients. C/CA was determined in 13 patients, the mean grade of stenosis was 76.33 +/- 15.21%, mean DPI was 25.25 +/- 35.49 days, and mean EDT was calculated as 78.23 +/- 373.82 days. Desaturation following endoscopic balloon dilatation developed in 26 (40.6%), orotracheal intubation was required in 10 (15.6%), tracheotomy in 10 (15.6%), and cardiopulmonary arrest occurred in 4 (6.25%). Prematurity, a longer duration of preoperative intubation, longer time from extubation to dilatation, older age, and higher grade of stenosis were determined as factors associated with postoperative early respiratory complications. Conclusion EBD indication should be carefully considered in children with acquired subglottic stenosis. To achieve better results and minimise complications, EBD should be performed without delay.Item Can RDW be used as a screening test for subclinical inflammation in children with FMF? Is RDW related to MEFV gene mutations?(2023) Parmaksiz, Gonul; Noyan, Z. Aytul; 36103024Objective Subclinical inflammation, an insidious feature of familial Mediterranean fever (FMF), can lead to life-threatening amyloidosis. We aimed to investigate acute phase reactants and complete blood count parameters to identify a useful marker for subclinical inflammation in children with FMF. A secondary aim was to identify an association between subclinical inflammation and specific Mediterranean fever (MEFV) gene mutations. Methods This study included 420 pediatric patients with FMF. Laboratory parameters of patients during the attack-free period and MEFV gene mutation analyses were recorded. Results Of the 420 patients, 88 (21%) had subclinical inflammation. Of those with subclinical inflammation, 48 (55%) had mutations in exon 10, 36 (41%) had M694V mutation, and 10 (11%) had M694V homozygous mutation. Red cell distribution width (RDW) value was higher in exon 10, M694V, and M694V homozygous mutations compared to other mutations. RDW was positively correlated with serum amyloid A (SAA) (r = 0.390, p = 0.0001). Analysis of a receiver-operating characteristic curve of RDW revealed that its optimal cut-off value for subclinical inflammation was 12.69%, its sensitivity was 64.10%, and its specificity was 50.90%. The area under the curve was 0.616 (p = 0.004, 95% confidence interval = 0.538-0.695). Conclusion We suggest that RDW can be used as a screening test as a marker of subclinical inflammation. A high RDW value should alert the clinician about subclinical inflammation in FMF children's patients with M694V (heterozygous, homozygous, compound heterozygous) mutation.Item Plasma Exchange in the Treatment of A Child with West Nile Virus Encephalitis: A Case Report(2022) Ozkale, Yasemin; Ozkale, Murat; Ceylan, Ozgur; Erol, IlknurBackground: West Nile virus (WNV) is a member of the Japanese encephalitis antigenic complex of the family Flaviviridae that can cause a wide range of clinical symptoms, from asymptomatic disease to severe meningitis, encephalitis flaccid paralysis, and death. In immunocompetent children, WNV infection is usually benign and self-limiting. However, this virus is also associated with severe neurological disease in some patients, especially those who are older, have a chronic disease, have undergone organ transplantation, or are immunocompromised. Case Report: A 12-year-old boy with selective immunoglobulin A-deficiency (SIgAD) and refractory seizures due to WNV encephalitis (WNE) was successfully treated with therapeutic plasma exchange (TPE) in conjunction with other immunomodulatory therapies. Conclusion: WNV can progress like autoimmune encephalitis. TPE appears to be safe and effective for treating children with WNE. To our knowledge, this report is the first of a child with WNV infection and SIgAD.Item Evaluation of video game playing status in school-age children with various variables(2021) Aydin, Beril; Oflu, Ayse; Yalcin, Sidika Songul; 34286323Objective: Excessive video game playing has several health implications on children. In this study, we evaluate the factors related to video game use in school-aged children. Material and Methods: This cross-sectional descriptive study included 160 children aged 6-8 years who applied to outpatient clinics at the Department of Pediatrics at Baskent University Hospital. Each parent completed a structured questionnaire including demographic information, video game use, average daily screen time, and parental habits and concerns about their children's screen use. Results: The mean age of first video game use was (mean +/- SD) 2.8 +/- 1.1 years. The minimum age for playing video games was 1 year. Male children spent more time playing video games. Both parental age and maternal education level were higher in the group of video gamers compared with non-gamers (p<0.05). Average time spent playing video games was 2.7 +/- 1.6 hours/day. The group of video gamers had a considerably younger age for starting watching television and higher rates for other video gamers at home than non-gamers (p=0.036 and p<0001, respectively). The group of video gamers had significantly higher rates for having a computer, tablet, and game console at home compared with non-gamers (p<0.05). Conclusions: Our study indicates a statistically significant relationship between the age of starting watching television, gender of child, parent's age, maternal education, and the categories of video gaming habits. Developing strategies toward avoiding early screen exposure in children should be taken into consideration, because it is directly related to video gaming habits in children.Item Children's Power of Food Scale: Turkish validity and reliability study(2021) Sahin-Bodur, Gulsum; Keser, Alev; Akcil-Ok, Mehtap; Unsal, Emine Nuket; Akin, Onur; 34472427Objective: The aim of the present study was to validate the Turkish version of the Children's Power of Food Scale (C-PFS-T) after translation of the original version. Design: The data were collected via face-to-face interviews using the C-PFS-T and a socio-demographic information form. BMI was calculated by dividing body weight by the square of the height. After the adaptation of the scale to Turkish language, validity and reliability analysis were conducted for the C-PFS-T. Setting: Gulhane Training and Research Hospital Department of Child Health and Diseases Nutrition and Diet Unit in Ankara. Participants: This research was conducted with volunteer children and adolescents between the ages of 9 and 16 years (n 268). Results: It was concluded that the 15-item C-PFS-T was collected under three factors as in the original version of the child version. Cronbach's alpha coefficient was found to be 0 center dot 878 for the scale. The confirmatory factor analysis results showed the acceptability and applicability of adapting the version of the C-PFS-T in terms of chi(2)/df (= 3 center dot 816), adjusted goodness-of-fit index (AGFI = 0 center dot 931), root mean square error of approximation (RMSEA = 0 center dot 082) and goodness-of-fit index (GFI = 0 center dot 852) fit indices. C-PFS-T total score's median value of obese group wasn't substantially different from normal weight group.Conclusions: It was concluded that the Turkish version of the C-PFS, which provides an assessment of the hedonic hunger status of children and adolescents with fifteen items and threesubdimensions, has sufficient reliability and validity to be applied to these subjects.