Search

Purpose Long-term ketogenic diet (KD) treatment has been shown to induce liver steatosis and gallstone formation in some in vivo and clinical studies. The aim of this retrospective study was to evaluate the hepatic side effects of KD in epileptic children. Method A total of 141 patients (mean age: 7.1±4.1years [2–18 years], 45.4% girls), receiving KD at least one year for intractable epilepsy due to different diagnoses (congenital brain defects, GLUT-1 deficiency, West syndrome, tuberous sclerosis, hypoxic brain injury, etc.) were included in the study. Serum triglyceride, cholesterol, aminotransferase, bilirubin, protein and albumin levels and abdominal ultrasonography were recorded before and at 1, 3, 6, and 12 months following after diet initiation. Results The mean duration of KD was 15.9±4.3months. At one month of therapy, three patients had elevated alanine and aspartate aminotransferase levels. These patients were receiving ketogenic diet for Doose syndrome, idiopathic epilepsy and GLUT-1 deficiency. Hepatosteatosis was detected in three patients at 6 months of treatment. Two of these patients were treated with KD for the primary diagnosis of tuberous sclerosis and one for Landau Kleffner syndrome. Cholelithiasis was detected in two patients at 12 months of treatment. They were receiving treatment for West syndrome and hypoxic brain injury sequelae. Conclusion Long-term ketogenic diet treatment stimulates liver parenchymal injury, hepatic steatosis and gallstone formation. Patients should be monitored by screening liver enzymes and abdominal ultrasonography in order to detect these side effects.

Acquired coagulopathy is a rare but challenging diagnosis for pediatric emergency physicians. Although the coagulopathy usually presents with mild skin and mucosal hemorrhages, it also can lead to life-threatening events. Thus, accurate interpretation of hints obtained from a detailed history, physical examination, and laboratory findings is essential for the prompt diagnosis and management. This case demonstrates an uncommon cause of coagulopathy; celiac disease that presented with spontaneous bruises and ecchymosis in an adolescent.

WOS: 000428609400007, PubMed ID: 29469018, Objectives: Many screening methods, such as the Screening Tool Risk on Nutritional Status and Growth (STRONGkids) and the Pediatric Yorkhill Malnutrition Score (PYMS), have been developed to detect malnutrition in pediatric patients. We aimed to explore the prevalence of malnutrition risk in hospitalized children via symptoms and identification of contributing factors, and to examine the efficacy of malnutrition screening tools for hospitalized children. Methods: STRONGkids and PYMS were applied to 1513 inpatients at 37 hospitals in 26 cities from different regions of Turkey. Physical measurements were collected at hospital admission and at discharge. z-Scores of height-for-age, weight-for-age, weight-for-height, and body mass index-for-age were calculated. Results: Overall, 1513 patients were included in the study. A body mass index standard deviation score of less than -2 was present in 9.5% of the study population at hospital admission, whereas 11.2% of the participants had a weight-for-length/height score of less than -2 at hospital admission. According to STRONGkids results, the proportion of the patients with an underlying chronic disease was higher for the patients at high risk of malnutrition than for the patients at medium or low risk (91% compared with 47% or 45%, respectively). PYMS results indicated that patients at high risk of malnutrition have more chronic diseases (75%) than the patients at medium or low risk of malnutrition (55% and 44%, respectively). Conclusions: Use of anthropometric measurements in addition to screening tools to identify hospital malnutrition (such as PYMS, STRONGkids) will prevent some nutritional risk patients from being overlooked. (C) 2017 The Author(s). Published by Elsevier Inc., Nutricia Advanced Medical Nutrition, This study was supported by Nutricia Advanced Medical Nutrition.

Prevalence of celiac disease (CD) is 2.42 % in healthy Turkish children. The frequency of IgA-associated disorders is increased in CD. Henoch-Schoenlein purpura (HSP) is an IgA-associated vasculitis. Association of HSP with CD has not been evaluated. We aimed to evaluate whether CD prevalence is increased in children with HSP. Children with HSP were evaluated for demographic, anthropometric, clinical, and laboratory data including urinalysis, complete blood count, albumin, creatinine, and IgA levels. In addition, tTG-IgA, EMA-IgA, anti-DGP-IgA, and IgG antibody levels were measured. Seropositive patients were evaluated by endoscopic small bowel biopsy. The rate of CD seropositivity and confirmed CD in HSP patients was compared to the rate in healthy Turkish children. There were 42 children (25 male) with HSP. No patient had classical CD symptoms, but two patients had growth failure. None of them had IgA deficiency, anemia or hypoalbuminemia. Celiac serology was positive in five (12 %) children. Endoscopic evaluation was performed in four patients, and two (5 %) of them were confirmed to have CD. Prevalence of both CD seropositivity and histologically confirmed CD in children with HSP was significantly higher compared to healthy Turkish children (p < 0.001 and p = 0.019, respectively). CD seropositivity rate in children with HSP (12 %) is significantly higher than the rate in healthy children. Although the number of children with HSP is small in this preliminary study, this result suggests that celiac screening may be considered in children with HSP.

BackgroundPrevious studies investigating the known risk factors of atherosclerosis in phenylketonuria patients have shown conflicting results. The primary aim of our study was to investigate the serum atherogenic markers in adolescent classical phenylketonuria patients and compare these parameters with healthy peers. The secondary aim was to compare these atherogenic markers in well-controlled and poorly controlled patients.MethodsA total of 59 patients (median age: 12.6 years, range: 11–17 years) and 44 healthy controls (median age: 12.0 years, range: 11–15 years) were enrolled in our study. Phenylketonuria patients were divided into two groups: well-controlled (serum phenylalanine levels below 360 µmol/L; 24 patients) and poorly controlled patients (serum phenylalanine levels higher than 360 µmol/L).ResultsThe mean high-density lipoprotein cholesterol levels of well-controlled patients (1.0±0.2 mmol/L) were significantly lower compared with poorly controlled patients and controls (1.1±0.2 mmol/L, p=0.011 and 1.4±0.2 mmol/L, pConclusionLower high-density lipoprotein cholesterol and higher homocysteine and mean platelet volume levels were detected in phenylketonuria patients. In particular, these changes were more prominent in well-controlled patients. We conclude that phenylketonuria patients might be at risk for atherosclerosis, and therefore screening for atherosclerotic risk factors should be included in the phenylketonuria therapy and follow-up in addition to other parameters.

SummaryWhat is known and objective Carglumic acid is a structural analogue of human N-acetylglutamate, which has become an alternative therapeutic option for hyperammonaemia in organic acidaemias such as isovaleric acidaemia, methylmalonic acidaemia and propionic acidaemia, and it has been suggested in other urea cycle disorders such as ornithine transcarbamylase deficiency and carbamoyl phosphate synthetase 1 deficiency. Case description A male newborn was diagnosed with citrullinemia after serum amino acid analyses revealed markedly elevated citrulline concentration together with homozygous p.Gly390Arg mutation in ASS1 gene. The ammonia concentration decreased and blood gas analysis normalized after peritoneal dialysis was performed for three days. Also, sodium benzoate, L-arginine and parenteral nutrition with glucose and lipid therapy were initiated. Until 1 year of age, low adherence to sodium benzoate therapy due to unpleasant taste caused hyperammonaemic episodes and obligated us to initiate carglumic acid (100 mg/kg/day) therapy. During treatment with carglumic acid, the median ammonia level was 45.6 µmol/L. The patient's treatment was switched from carglumic acid to sodium phenylbutyrate when he was 4.5 years old. Currently, the patient is 6.5 years old and remains under follow-up with sodium phenylbutyrate, L-arginine and protein-restricted diet. Plasma ornithine level was found to be significantly lower during the carglumic acid treatment compared to other treatments (P=.039). Also, glutamic acid was found to be higher during the sodium benzoate treatment period compared to other treatment periods (P=.024). What is new and conclusion To the best of our knowledge, this is the first report describing the long-term use of carglumic acid in a patient with argininosuccinate synthetase deficiency.

In the early years of phenylketonuria (PKU) treatment, mothers and healthcare professionals often decide to discontinue breastfeeding after the diagnosis of PKU in infants. It was believed to be the only effective way to monitor the infant's intake and allow for precise titration and measurement of the intake of phenylalanine (Phe). In the early 1980s, with the determination of low concentration of Phe in breast milk, breast milk supplemented with Phe-free formula has become an acceptable dietary treatment for infants with PKU. Today, breastfeeding is encouraged and well established in PKU patients. The aim of the present study is to investigate the prevalence and duration of breastfeeding, the effect of breastfeeding on serum Phe levels, and weight gain in infants with PKU.Data were collected from chart reviews. Medical records of 142 children with PKU diagnosed via the national neonatal screening program were analyzed retrospectively.Of the 41 infants with complete medical records, 40 (97.6%) were breastfed following delivery whereas only one (2.4%) was bottle fed. After the diagnosis, breastfeeding was continued in 25 (61%) infants with phenylalanine-free amino acid based protein substitute. The mean duration of breastfeeding was 7.4±4.0 (1-15) months. Serum Phe concentration of breastfed infants (280±163 μmol/L) was significantly lower than non-breastfed infants (490±199 μmol/L) (p0.001). Mean monthly weight gain in the first year of life was significantly higher in breastfed patients (493±159 g/month) compared to non-breastfed patients (399±116 g/month) (p=0.046).In the first year of life, weight gain and serum Phe levels were more favorable in breastfed infants with PKU compared to non-breastfed infants with PKU.

OBJECTIVE: By the advancement in serological tests, non-typically presented celiac patients could be diagnosed easily. Aim of this study was to investigate the presenting symptoms of newly diagnosed celiac patients. METHODS: Records of newly diagnosed 60 celiac patients were investigated for the presenting symptoms and antropometric measurements retrospectively. Celiac disease was diagnosed by serological tests and detection of villus atrophy in intestinal biopsy. Patients were devided into three groups according to their presenting symptoms and findings: Patients presented with gastrointestinal GIS symptoms, other than GIS symptoms and asymptomatic patients. RESULTS: Mean age of patients was 8.6 ± 4.7 years. 11 patients 18.3% presented with GIS symptoms diarrhea, constipation, etc. ; 35 58,3% of them presented with non-GIS related symptoms growth retardation, anemia, muscle weakness etc. and 14 23,4 % of them had no symptoms. Asymptomatic patients had been diagnosed by screening celiac disease. Three patients 5% had obesity at admission. CONCLUSION: In this study, it was shown that most of the celiac patients presented with non-GIS related symtoms or even without any symptom. This can be caused by both widely using serological tests all over the world and also by investigating the patients who had atypical symptoms for celiac disease in recent years, carefully., AMAÇ: Serolojik tanı testlerinin gelişmesi ile çölyak hastalığının tipik olmayan bulgularını taşıyan hastalara da tanı konulması kolaylaşmıştır. Bu çalışmanın amacı yeni çölyak hastalığı tanısı konulan hastalarda başvuru bulgularının araştırılmasıdır.YÖNTEMLER: Çölyak hastalığı tanısı alan 60 hastanın başvuru yakınmaları ve antropometrik verileri retrospektif olarak araştırıldı. Çölyak hastalığı tanısı serolojik değerlendirme ve ince bağırsak biyopsisinde villöz atrofi saptanması ile konuldu. Hastalar başvuru yakınmaları ve bulgularına göre gastrointestinal sistem GİS bulgularıyla başvuranlar, GİS dışı bulgularla başvuranlar ve yakınması olmayan hastalar olmak üzere üç gruba ayrıldı. BULGULAR: Hastaların başvuru sırasında ortalama yaşı 8.6 ± 4.7 yıl idi. 11 hasta %18.3 GİS bulgularıyla ishal, kabızlık , 35 hasta %58.3 GİS dışı bulgularla büyüme geriliği, kas güçsüzlüğü, anemi başvurmuştu. 14 hastanın ise %23.4 başvuru sırasında yakınması yoktu, tarama amacıyla serolojik tetkikler istenmişti ve tanı konulmuştu. 3 hastada %5 tanı sırasında obesite saptandı. SONUÇ: Çalışmamız çölyak hastalığı tanısı alan hastaların çoğunluğunun klasik olmayan gastrointestinal sistem dışı bulgularla başvurduğunu veya taramalar sırasında saptandığını göstermektedir. Bu durum, tüm dünyada hastalığın klasik olmayan GİS dışı bulgularının da dikkatle değerlendirilmesi ve serolojik tetkiklerin bu hastalarda istenmesi ile tanı almalarından kaynaklanmaktadır.

Phenylketonuria (PKU, OMIM: 261600) is an autosomal recessive disorder caused by hepatic phenylalanine hydroxylase enzyme (EC 1.14.16.1) deficiency. Phenylketonuria is the most prevalent inborn error of amino acid metabolism in the world. There is a nationwide newborn screening program in Turkey since 2007 for this disease. If PKU is not diagnosed at birth and dietary treatment was not started, it can cause severe irreversible mental deterioration. Treatment of classical PKU depends on life-long phenylalanine (Phe) restricted diet with supplementation of Phe-free amino acid mixtures to maintain therapeutic blood Phe levels and adequate nutrition. Several studies showed that discontinuation of the therapy or diminished compliance to this strict diet resulted in neuropsychological problems as well as decline in intelligence quotient (IQ), even though the diet was started during the neonatal period.1-3 Successful treatment of classical PKU, like other disorders of inborn errors of metabolism (IEM), requires a team effort including physicians with other health workers, particularly patients and their parents.4,5 Parents have to supervise and evaluate the daily nutritional intake of their child continously.6 The major problem encountered in the treatment of PKU in developing countries is the lack of dietary adherence, which is due to limited number of experienced clinics, large families, ignorance of the parents, financial limitations, low risk perceptions of the parents, difficulties in the supply of low-protein products.7-9 As in PKU, diet-related diseases such as diabetes, celiac disease, food allergies, cystic fibrosis, and other inherited metabolic diseases were shown to be associated with the increased risk of anxiety and depression both in patients10,11 and their families due to the decreased quality of life within the household.11-14 Decreased quality of life and presence of mood disorders in PKU patients has been largely investigated in different studies.15-17 However, there are few studies investigating mood disorders in parents of PKU patients in the literature.6,12,18 Caring for a chronically ill child with or without disabilities at home might be somewhat disconcerting for the caregivers. The development of interventions to reduce the stress experienced by caregivers is necessary for the success of the dietary treatment of PKU patients. Determination of predictors of depression and anxiety among parents caring for PKU children may help health professionals in identifying those parents who need special attention to restore their psychological well-being. The objective of this study was to investigate the existence and severity of depression and anxiety in parents of children with classical PKU and to evaluate the relationship between mood disorders and possible risk factors in those parents.

The objective of this study was to determine the effect of circumcision on the frequency of urinary tract infection (UTI), growth development, and the nutrition status in infants with antenatal hydronephrosis (AH). The data were collected prospectively between 1998 and 2010. Infants with a fetal pelvis diameter of5 mm identified with antenatal ultrasound were followed-up. Body height and weight were expressed as HZ scores (observed height - median height/standard deviation) and WZ scores (observed weight - median weight/Standard deviation). The nutritional status was evaluated and the body weight was transformed to a weight-for-height index (WHI = weight/median weight for the height age × 100). The HZ and WZ scores or WHI were calculated for each patient at the first and last visits. The chi-square and Student's t tests were used for statistical analysis. A p value0.05 was considered significant. The study included 178 (134 males, 44 females) patients. Of these, 29 were diagnosed by vesicoureteral reflux (VUR), 87 by obstructive uropathy, and 54 by normal. Of 134 males, 111 infants were circumcised. The mean monitoring time was 45±24.9 months and the mean age of circumcision was 14 ± 16.06 months. The pre-circumcision UTI frequency (2.97 ± 1.14/y) was significantly higher than post-circumcision period (0.25 ± 0.67/y) (p 0.05). Also, pre-circumcision UTI frequency (2.97 ± 1.14/y) was significantly higher than the UTI frequency observed in female cases (0.85 ± 0.91/y) and in the overall study group (0.73 ± 0.79/y) (p 0.05). In all patients, the HZ of the circumcised subjects (0.18 ± 1.01) was statistically higher than uncircumcised subjects (-0.26 ± 0.92) (p 0.05). Although statistically insignificant, the HZ of the circumcised males (0.13 ± 1.24) with VUR was higher than the uncircumcised patients (0.03 ± 0.55) (p 0.05). In obstructive uropathy groups, the HZ of the circumcised males (-0.13 ± 0.54) was also found to be higher than uncircumcised males (-0.49 ± 0.66) (p 0.05). Although nutrition scores were found to be better in circumcised males, no statistically significant effect of circumcision on the nutrition status was detected. In conclusion, postnatal early circumcision of infants with AH seems to prevent frequent UTIs and nutritional disturbances enabling normal growth.