INTRODUCTION: Inhibitor development(ID) risk in the patients with haemophilia A(HA) having missense mutations has been reported to be 3-10% in other studies. We investigated the association between ID risk and various features of missense mutations including aminoacid group change caused by.
METHODS: Missense mutations in the F8 gene, patients’ clinical findings including severity of HA and ID status were obtained from the F8 gene variant database(http: //www.factorviii-db.org/). Twenty aminoacids are classified into groups according to their side chains. All information about each mutation and whether the mutation caused aminoacid group change were recorded. Additionally, localisation (at which domain) of the changed aminoacid in the F8 protein was recorded. In this study, we used CADD, REVEL, M-CAP, and DANN scores to find a significant cut-off value indicating ID.
RESULTS: We found three features that could be predicted to ID in mild HA: First, Among mild HA patients, 7.9% (n=70/883) of patients with mutations causing no aminoacid group changes showed ID, this rate was only 2.9% in patients with mutations leading to aminoacid group changes. Second, patients with mutations causing no aminoacid group changes effecting A2, A3 and C2 domains, ID risk was found to be higher than the patients with mutations leading to aminoacid group changes. Third, CADD and REVEL scores have been found to be associated with ID.
DISCUSSION AND CONCLUSION: In mild haemophilia A patients, the ability of aminoacid group changes of missense mutations, and CADD and REVEL scores could be suggested to use for predicting ID risk.

INTRODUCTION: In 2016, the Centers for Disease Control and Prevention (CDC) published a management algorithm for spina bifida (SB) cases from birth and started collecting data prospectively. They designated risk factors from urodynamic studies as end filling pressure or detrusor leak point pressure (DLPP) ≥40 cmH2O or neurogenic detrusor overactivity (NDO) with detrusor sphincter dyssynergia (DSD), and named this type of bladder dysfunction as “hostile bladder” (HB). They recommended the immediate start of clean intermittent catheterization and anticholinergics in these patients. Having similar concerns on this patient population, we designed a retrospective study to identify and reveal long-term outcomes of SB patients with HB.
METHODS: All urodynamic studies and hospital records of SB patients admitted and followed between 1994-2014 were reviewed retrospectively. The demographic data, the presence of DLPP, DSD and NDO in the first urodynamic examination, bladder compliance, first and last radiologic and scintigraphic imagings, surgical interventions were evaluated. Upper tract damage was defined as new scars in DMSA scans.
RESULTS: A total of 58 patients were included in the study. The mean follow-up was 12.17±5.17 years. The presence of a scar in the first scintigraphy (p=0.01) and the presence of hydronephrosis in the first and last ultrasonography (p=0.03) were found to be independent risk factors for new scar development. When DLPP values were evaluated with ROC analysis, 50cmH2O was observed as a significant threshold value with 73% sensitivity and 60% specificity.
DISCUSSION AND CONCLUSION: Our study confirmed the detrimental effects of high pressure and detrusor-sphincter dyssynergia; however, hostile bladder parameters were not sufficient to distinguish high-risk group patients. The presence of scars in the first scintigraphic evaluation, DLPP above 50cmH2O, and the presence of hydronephrosis in the first ultrasound were found to be risk factors for renal deterioration. More frequent monitoring and detailed evaluation may be necessary for patients with these risk factors.

INTRODUCTION: Aim: Surgery is a stressful and painful experience for children and it is important to control postoperative anxiety and pain. The aim of this study is to evaluate the effects of game intervention on postoperative anxiety and pain levels in children.

METHODS: Materials and methods: A randomized controlled trial design was employed in the current study. Seventeen children in the intervention group started to play the game at their bedside with their parents at 15 minutes after arrival to the service from the recovery room (pre-intervention period); while the twenty children in the control group only obtained the routing service protocol without a game intervention. The effectiveness of the game intervention was assessed at 60 minutes after arrival to the service from the recovery room (post-intervention period) using Facial Affective Scale for anxiety and Visual Analog Scale for pain. Analgesic needs of children after the surgery were recorded.
RESULTS: Results: In both groups, the pre-intervention anxiety and pain were significantly decreased in the post-intervention period (p<0.05). The reduction of anxiety in the control group was significantly higher than the intervention group (p=0.006) and there was no significant difference between post-intervention pain levels of groups. The rate of analgesic need in the control group was significantly higher than the rate of the intervention group (p=0.048).
DISCUSSION AND CONCLUSION: Conclusions: The results indicate that children who play the game intervention with their parents have no lower levels of anxiety or pain than children in the control group; however, it was effective at decreasing both anxiety and pain levels after surgery. Based on the decreased rates of analgesic needs, it is recommended that nurses encourage parents to play with their children after surgery.

INTRODUCTION: To determine the efficacy of three natural surfactant preparations in our community and the short- and long-term results of these preterm infants.
METHODS: This was a retrospective study on 193 preterm infants with respiratory distress syndrome (RDS). The patients were divided into three groups, each of which received one of these surfactants: Group 1; beractant (100 mg/kg); Group 2; poractant alpha (first dose of 200 mg/kg, recurrent doses of 100 mg/kg); Group 3; calfactant (100 mg/kg). The groups were compared according to demographic characteristics, 1- and 5-minute Apgar scores, weight percentiles by gestational weeks, presence of pulmonary hemorrhage, surfactant dose repetition, air leak, bronchopulmonary dysplasia (BPD), stage of intraventricular hemorrhage (IVH), necrotizing enterocolitis (NEC), hemodynamically significant-patent ductus arteriosus (hs-PDA) and its medical or surgical treatment, retinopathy of premature (ROP) and its treatment, sepsis, duration of invasive and non-invasive mechanical ventilation, length of free oxygen need, time to start full enteral feeding, discharge time, mortality.
RESULTS: A total of 193 preterm infants with a mean gestational age of 28.9 ± 3.1 weeks and mean birth weight of 1190.4 ± 504.3 grams. Neonates were allocated to three different groups randomly, including group-1 (n=77), group-2 (n=59), and group-3 (n=57). There were no differences in demographic and clinical characteristics of the subjects by groups. The incidence of pulmonary hemorrhage, surfactant dose repetition, air leak, duration of invasive and non-invasive mechanical ventilation, length of free oxygen need, hs-PDA and surgical treatment of PDA, BPD, NEC (≥stage II), IVH (>stage III), ROP, time to start full enteral feeding, discharge time were similar between the study groups. Sepsis and mortality were lower in Group compared to Groups 1 and 2 (p=0.015, p=0.001).
DISCUSSION AND CONCLUSION: In this study beractant, proctan alpha and calfactant had clinically similar efficacy in patients with RDS.

INTRODUCTION: The purpose of this study was aimed to examine whether web-based diabetes education is effective in improving metabolic control, self-efficacy for diabetes self-management, and quality of life in adolescents with type 1 diabetes mellitus in Turkey.
METHODS: This study was conducted with adolescents with type 1 diabetes mellitus who were registered in the Pediatric Endocrinology Polyclinic of a university hospital in the western region of Turkey. A total of 32 were included in the control group who received diabetes education in the clinical setting, 30 were included in the intervention group who received the web-based diabetes education. Although the adolescents in the control group received standard medical care as usual, with no participation on the website, those in the intervention group were also educated on diabetes management using the web site.
RESULTS: For self-efficacy, a statistically significant difference between the groups was found. Regarding the group, time, and group-time interaction for quality of life, a statistically significant difference was found between the mean scores of the groups. Web-based education was found to be effective for increasing the quality of life mean scores when compared with the standard care provided for the adolescents with T1DM, with the intervention group having higher quality of life than the control group.
DISCUSSION AND CONCLUSION: In conclusion, we found that web-based diabetes education program had no effect on A1C levels, but the education model effectively increased the self-efficacy and quality of life of adolescents with diabetes

INTRODUCTION: This study aimed to examine the results of the winograd technique applied in the treatment of ingrown toenail cases, which are frequently encountered in childhood, especially in adolescence. The recurrence, satisfaction, and complication rates in the pediatric age groups were evaluated with the surgical matrixectomy application of winograd technique, a frequently used one in the adult age groups.
METHODS: Ingrown toenail cases that had undergone surgical matrixectomy with Winograd technique between September 2016 and December 2018 were evaluated. Those detected to be stage 2-3 according to the Heifetz classification were operated. Demographic information was recorded. The cases were divided into three groups as 3-7, 7-12, and ≥12 by age groups. Such data as recurrence, post-operative infection, osteomyelitis, long term complication and return to the regular activity were evaluated. Visual Analog Scale was used for the satisfaction scale.
RESULTS: A total of 162 operated ingrown toenails from 142 children were followed for an average of 21 months (12-38). The mean age was 13.8. When the ingrown toenail location was evaluated, the lateral sides (98, 61.2%) of the patients were seen to have been affected more. According to age groups 65% (105) of the cases were in the group aged 12 and over. While the frequency of all complications was 8.1% (13), no chronic complications or osteomyelitis were encountered. Recurrence was observed in 3.1% of cases and also early infection (<15 days) was observed in 10 cases, while the late infection (≥15day) was observed in 3 cases. According to the visual analog scale scores, 135 (95.0%) cases were found to be very satisfied or satisfied.
DISCUSSION AND CONCLUSION: Winograd technique (surgical matrixectomy) is of low recurrence, low complication and high satisfaction rates in all pediatric age groups even with advanced ingrown toenail complaints. Complete excision of affected matrix with magnification increases the success of the Winograd technique.

INTRODUCTION: The aim of the study was to examine psychometric and psycholinguistic characteristics of "The Pediatric Epilepsy Medication Self-Management Questionnaire" which is adapted into Turkish.
METHODS: The sample of the methodological study consists of 540 parents whose children (between the age group of 2-17) were followed up at Akdeniz University Hospital Pediatric Neurology Polyclinic between April 2015 and June 2016 for diagnosis of epilepsy. The data of the study is obtained from 4 sub-dimensions and face-to-face interview method conducted by the researcher by using "Child and Parent Introduction Form" and "The Pediatric Epilepsy Medication Self-Management Questionnaire". Written informed consent was obtained from Akdeniz University Clinical Research Ethics Committee and parents.
RESULTS: Scoring received from 10 specialists had been evaluated for evaluation of the scales scope validation and it was determined that harmony prevailed between the specialists (CVI=0.89). The KMO (Kaiser-Meyer-Olkin) value of 0.656 and Barlett’s Test value of (df=210, p=.000) indicated that the data were in the sufficient amount and suitable for factor analysis. As a result of exploratory factor analysis, 6 items of which factor loads were below 0.40 were removed from the scale. The factor structure of the newly formed 4 sub-dimension scale was tested by confirmatory factor analysis and the structure was confirmed (χ2/df=2.372, RMSEA=0.079, CFI=0.901, GFI=0.927 ve AGFI=0.851). Cronbach Alpha coefficient was found to be 0.71 for the total score of the scale. Sub-dimension correlations of the scale were determined to vary in between 0.829-0.690. Testing correlations for test-retest had been found significant (p<.001) and high (0.91).
DISCUSSION AND CONCLUSION: Turkish adapted version of "The Pediatric Epilepsy Medication Self-Management Questionnaire" was determined to band reliable for Turkish society.

INTRODUCTION: Screening of dyslipidemia in childhood has been controversial. While some guidelines recommend screening of dyslipidemia in children, others emphasize that there is insufficient evidence for screening of dyslipidemia in those less than 20 years of age. In this study, we aimed to evaluate the outcomes of lipid screening program and reveal the pros and cons of the program.
METHODS: All patients referred to pediatric metabolism outpatient clinic by family physicians with the suspicion of dyslipidemia in lipid screening program at schools were investigated.
Demographic and physical examination findings, screening lipid profile and fasting control lipid profile of patients were evaluated. Definitive diagnosis with fasting lipid profile and genetic analysis were recorded.

RESULTS: Two hundred seventy-four patients suspected with dyslipidemia were enrolled in the study. The mean age of study group was 9.2±3.2 (5-17) years.
While 158 (57.7%) patients were admitted with high total cholesterol and low-density lipoprotein cholesterol, high triglyceride level was detected in 58 (21.2%) patients with pediatric lipid screening program. High total cholesterol level was revealed in 26 (9.5%) patients.
With the control fasting lipid profile 100 (36.5%) patients had normal lipid profile. As 59 (21.5%) patients diagnosed with familial hypercholesterolemia, hyperchylomicronemia and hypobetalipoproteinemia were revealed in 5 (1.8%) and 4 (1.5%) patients, respectively.
Eleven patients diagnosed with familial hypercholesterolemia did not declare hyperlipidemia in parents. In the family screening of these patients, 11 parents and 3 siblings were diagnosed with familial hyperlipidemia.

DISCUSSION AND CONCLUSION: This is the first study performed to date that evaluated the outcomes of lipid screening program at school age children in Turkey. We found that screening program is effective to diagnose not only the patients but also asymptomatic parents and siblings. Evaluation and verification of dyslipidemia should be performed in fasting status to avoid false positive results.

INTRODUCTION: This study aims to assess white blood cell count, platelet count, and platelet indices as metabolic indicator in overweight, obese and morbidly obese children.
METHODS: One hundred thirty overweight, 341 obese, 188 morbidly obese children and 110 controls were enrolled in the study. Anthropometric measurements, pubertal status, complete blood count parameters [white blood cells (WBC), platelet, mean platelet volume (MPV), plateletcrit (PCT), platelet distribution width (PDW)] and WBC differential (neutrophils, lymphocytes, monocytes), neutrophil/lymphocyte ratio (NLR) and platelet/lymphocyte ratio (PLR), serum levels of glucose, lipids, aspartate transaminase (AST), and alanine transaminase (ALT), insulin and thyroid hormones were obtained from the hospital records. Insulin resistance was assessed according to the homeostasis model assessment-insulin resistance (HOMA-IR) index.
RESULTS: WBC, neutrophil, lymphocyte, and monocyte counts were highest in morbidly obese followed by obese, overweight, and healthy groups, respectively. Platelet count, PCT, and PDW were significantly higher in the morbidly obese, obese, and overweight group compared to the healthy group. However, there was no significant difference between the groups in terms of MPV, NLR, and PLR. WBC, neutrophil, lymphocyte, platelet, PCT, ALT, and triglyceride levels were higher in children with insulin resistance than those without insulin resistance. There was a positive correlation with the neutrophil, lymphocyte, monocyte count, PCT value, and a negative correlation with the PDW value. Moreover, there was a positive correlation between the HOMA-IR and WBC, neutrophil, lymphocyte count, and PCT.
DISCUSSION AND CONCLUSION: WBC, neutrophils, lymphocytes, monocytes, platelets, and PCT value increase in childhood obesity, which could point towards low-grade chronic inflammation and the increase in WBC, neutrophils, lymphocytes, and PCT value may be associated with insulin resistance.

INTRODUCTION: Early repolarization (ER) is a common electrocardiographic (ECG) finding. Although it is known a benign phenomenon, recent studies have shown it to be an important marker of cardiac vulnerability, which can lead to sudden cardiac death. However, there are still conflicting data regarding the prognostic significance of ER in asymptomatic subjects, especially in children. The aim of this study was to investigate specific ECG markers that reflect ventricular repolarization in children with benign ER.
METHODS: The study group included 56 healthy children with a benign ER pattern on ECG and a control group was formed of 81 children with normal ECG. Benign ER pattern was defined as terminal QRS notching or slurring accompanied by rapidly ascending ST elevation (> 0.1 mV from baseline) in two or more leads. The ECG parameters of QT dis, QTc dis, Tpe dis, Tp-e/QT and Tp-e/QTc were evaluated at rest by a single experienced pediatric cardiologist blinded to the groups.
RESULTS: Higher Tp-e, Tp-e dis, Tp-e/QT and Tp-e/QTc measurements were determined in the study group than in the control group. There were no significant differences in the studied ECG parameters in respect of ER location (inferior, lateral, inferolateral), or the ER type (slurring, notching or both).
DISCUSSION AND CONCLUSION: These findings suggest that benign ER in children is associated with the risk of arrhythmogenesis through alterations in ventricular repolarization.

INTRODUCTION: Acute rheumatic fever (ARF) is an endemic disease especially in developing countries. Due to an autoimmune response to group B streptococcus throat infection ARF develops in susceptible children. Mean platelet volume (MPV) reflects the platelet size and the rate of platelet production. It is important in cardiovascular events and rheumatic diseases. MPV/platelet count ratio was detected more sensitive than MPV alone in patients with hepatocellular carcinoma, deep vein thrombosis and myocardial infarction. The aim of this study was to investigate the alterations in MPV and MPV/platelet count ratio at the active and remission periods of ARF compared with the healthy subjects.
METHODS: This study population consisted with 70 ARF patients and age - gender matched 70 healthy controls. In all subjects, complete blood count; including hemoglobin, white blood cell count (WBC), platelet count, MPV and C-reactive protein (CRP), erythrocyte sedimentation rate (ESR) were measured at the active stage and during the remission period in comparison with healthy subjects.
RESULTS: There was no statistically significant difference between the ARF and control groups for the sex and age (p>0.05). Forty-one patients of ARF had carditis. ARF patients at the active stages had significantly higher WBC, CRP and ESR values (p<0.05). Although no significant difference was observed in MPV between the groups (p>0.05); MPV/platelet count ratio was decreased at the active stage and increased again at the remission period and reached the same values with the healthy controls (p<0.001).
DISCUSSION AND CONCLUSION: We did not find any relationship between MPV and ARF. However decreased MPV/platelet count ratio was detected at the active stage of ARF. The present findings emphasize the association between MPV/platelet count ratio and ARF. MPV/platelet count ratio may be used to determine activity of ARF disease.

INTRODUCTION: Exclusive breast feeding (EBF) is of paramount importance for a child’s growth and development. The aim of this study was to determine the prevalence of EBF practices, examine factors associated with such practices, and uncover the barriers to EBF practices in the community.
METHODS: A cross-sectional study with structured questionnaires was conducted among 252 mothers with children aged 6 - 9 months in the community covering southern Chennai and adjoining districts of Chengalpet and Kanchipuram from October 2018 to October 2019. Multiple logistic regression was used to determine factors associated with EBF.
RESULTS: Seventy three percent (184/252) of mothers had followed EBF practices till child completed 6 months of age. About 58% of mothers initiated breastfeeding within 1 h of birth, with 32.53% reporting to have fed colostrums to the child. Mothers (19.80%) reported prelacteal feed administration. Perceived milk insufficiency (58.82%) was the commonest problem reported by mother that led to EBF discontinuation. Children of mothers who were working (OR 3.32; 95% CI 1.13, 9.70), residing in urban (OR; 6.67 95% CI 1.12, 39.66) and semi-urban areas (OR; 12.47 95% CI 2.05, 75.90) were less likely to be exclusively breastfed as evident from multivariate regression analysis. No association was found with sex of baby, birth order, lactation counseling, and administering prelacteal feed.
DISCUSSION AND CONCLUSION: Working mothers and those residing in urban areas were at higher risk of not adhering to EBF. The national impact of increasing urbanization and the impact on EBF practices should be studied in greater depth.

INTRODUCTION: Vitamin D is suggested to be involved in the pathogenesis of childhood asthma.It is one of the most researched hypothesis but previous reports are inconclusive. The objective of the study was to know the association between vitamin D and asthma; and its association with level of control of asthma in children
METHODS: This case control study was conducted in tertiary care teaching hospital among children of 6-12 year age group.Children with bronchial asthma who were under follow up in respiratory clinic were taken as cases.Healthy children with no history of bronchial asthma were taken as controls. Serum 25(OH)vitamin D was measured with chemiluminescence method
RESULTS: This case control study was conducted in tertiary care teaching hospital among children of 6-12 year age group.Children with bronchial asthma who were under follow up in respiratory clinic were taken as cases.Healthy children with no history of bronchial asthma were taken as controls. Serum 25(OH)vitamin D was measured with chemiluminescence method
DISCUSSION AND CONCLUSION: - There is high prevalence of vitamin D deficiency among children with asthma. Further, the results did not consistently support that vitamin D levels associate with level of control of asthma.

INTRODUCTION: To investigate cardiac involvement in patients diagnosed with mucopolysaccharidosis (MPS) Type III in a university hospital in Turkey.
METHODS: This descriptive cross-sectional study was performed in a university hospital by examining the patients’ files who were admitted between January 1998 and December 2019 for 49 MPS Type III patients.
RESULTS: The mean age of the participants was 12.24±5.21 years (range: 1-26). The mean age at which the patients underwent echocardiography was 6.90±4.82 years. Type IIIA, IIIB, IIIC, and IIID subtypes were present in 24 (49.0%), 19 (38.8%), 5 (10.2%), and 1 (2.0%) patients, respectively. Among the MPS type III patients, 32 patients (72.7%) had pathological cardiac findings, while 12 patients (27.3%) had normal cardiac findings on echocardiographic examination. The most common cardiac pathologies were those related to mitral valve (valve insufficiency 52.3% (n=27), valve thickening 43.2% (n=25), and prolapse 38.6% (n=23)). Tricuspid insufficiency (34.8%, n=8) was seen only in MPS Type IIIA. Mitral insufficiency and aortic valve thickening were significantly more common among females (p=0.014, p=0.025, respectively).
DISCUSSION AND CONCLUSION: Patients with MPS Type III should be closely monitored for cardiac pathologies and especially mitral valve insufficiency, which are more prevalent among females.

Burkitt lymphoma is rare Non-Hodgkin’s lymphoma type in childhood. The differential diagnosis includes dental infection and osteomyelitis. Therefore, patients often refer to the dentist first. Early diagnosis has great importance on prognosis. We aimed to broaden the perspective of dentists about this disease and confirm the diagnosis radiographically and clinically.

Mucopolysaccharidosis type-II(MPS-II) is an X-linked lysosomal storage disorder. Here, we report an 8-year-old boy with pebbling sign in scapular region, coarse facies, claw hand, diastolic murmur, and hepatomegaly. With decreased iduronate-2-sulfatase activity and hemizygous mutation in IDS gene, diagnosis was MPS-II. Pebbling sign is a rare but pathognomonic sign of MPS-II.

We present an adolescent girl with severe kyphoscoliosis and inability of walking due to progressive pseudorheumatoid dysplasia (PPD) who was initially misdiagnosed as Juvenile Idiopathic Arthritis for 9 years. The lack of inflammatory joint involvement and inflammatory laboratory parameters, along with the characteristic radiological findings should raise suspicion for PPD.