Engin Kose

The Performance of Acute Peritoneal Dialysis Treatment in Neonatal Period

The aim of this retrospective study was to evaluate our neonatal intensive care unit (NICU) patients’ characteristics treated with acute peritoneal dialysis (PD) and their risk factors for mortality. We also wanted to share our experience of the application of PD in neonates who required less than 60 mL of dwell volume and their PD-related problems, as well as special solutions for these problems. This study included 27 infants treated in our NICU between February 2008 and December 2011. We retrospectively analyzed these patients’ records. The percutaneous PD catheter was placed by us. PD procedure was performed either by manual technique or automated PD. Statistical evaluation was performed by using χ2-tests and Student’s t-tests. In these 27 neonates, the average gestational age and birth weight were 35.18 ± 4.02 weeks and 2534.62 ± 897.41 g, respectively. The mean PD duration time was 6.11 ± 6.30 days. Of these, 10 patients were treated by manual technique, whereas 17 patients were treated with automated system. Among 27 neonates, 16 patients died. Overall mortality rate was 59.25%. PD-related complications were seen in 25.92% of patients. In conclusion, PD application is less effective and troublesome for low-birth-weight infants. Each center should create its own solutions to accommodate problematic patients in PD treatment to improve the outcome in this special population.

Severe Acute Disseminated Encephalomyelitis With Clinical Findings of Transverse Myelitis After Herpes Simplex Virus Infection

Background: ADEM is a central nervous disease that leads to myelin damage as a result of autoimmune response that develops after infections or vaccination. Herpes Simplex Virus (HSV) infection rarely leads to ADEM. Patient: 25-month-old male due to urinary retention, paradoxical respiration and muscle weakness after herpetic gingivostomatitis diagnosed as transverse myelitis. In follow-up with cranial and spinal magnetic resonance imaging multiple lesions were demonstrated. Electroneuromyography findings were compatible with acute sensorimotor neuropathy, serum anti-GM2 antibodies and Herpes Simplex Virus (HSV) Type 1/2 IgM / IgG detected negative and positivite, respectively. With these findings he was diagnosed acute disseminated encephalomyelitis (ADEM) following HSV infection. Although acyclovir, intravenous immunoglobulin, methylprednisolone and plasmapheresis therapies, he is still in intensive physical therapy program with heavy sequel. Results: In our case, ADEM demonstrated transverse myelitis clinic after HSV infection which is rarely seen in literature. As well as clinic and spinal imaging findings, cranial imaging findings helped establishment of ADEM diagnosis. Conclusion: To our best knowledge, HSV is a rare etiological and probably the poor prognostic factor of ADEM.

The effect of circumcision on the frequency of urinary tract infection, growth and nutrition status in infants with antenatal hydronephrosis

Abstract 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 of >5 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 value <0.05 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.

The Effect of Rapid Antigen Detection Test on Antibiotic Prescription Decision of Clinicians and Reducing Antibiotic Costs in Children with Acute Pharyngitis

We aimed to investigate the effect of rapid antigen detection test (RADT) in the diagnosis of streptococcal pharyngitis, its impact on antibiotic prescription decision of pediatricians and influence on reduction of antibiotic treatment costs in children with pharyngitis. The study group consisted of 223 patients who were diagnosed with pharyngitis by pediatricians. The sensitivity and specificity of RADT were 92.1% (95% Cl: 78.6-98.3%) and 97.3% (95% Cl: 93.8-99.1%), respectively. In the first assessment, before performing RADT, pediatricians decided to prescribe antibiotics for 178 (79.8%) patients with pharyngitis. After learning RADT results, pediatricians finally decided to prescribe antibiotics for 83 (37.2%) patients with pharyngitis, and antibiotic prescription decreased by 42.6%. Antibiotic costs in non-Group A streptococcus pharyngitis, Group A streptococcus pharyngitis and all subjects groups decreased by 80.8%, 48%, and 76.4%, respectively. Performing RADT in children with pharyngitis has an important impact on treatment decision of clinicians, reduction of unnecessary antibiotic prescriptions and antibiotic costs.

Val2Ala mutation in the Atp6v0a4 gene causes early-onset sensorineural hearing loss in children with recessive distal renal tubular acidosis: a case report.

Abstract A young female patient born to consanguineous parents was admitted to our clinic at the age of 3 years with a 5-month history of weight loss and recurrent urinary tract infections. Based on clinical findings (delayed growth and O-bein deformity) and laboratory tests (hypokalemia, hyperchloremia, partially compensated metabolic acidosis, alkaline urine and nephrocalsinosis), a diagnosis of distal renal tubular acidosis (dRTA) was made. Then, the audiogram revealed a bilateral sensorineural hearing loss (SNHL). On follow-up, bilateral SNHL progressively worsened requiring the need for hearing aid. The ATP6V0A4 gene mutation analysis showed homozygote Val2Ala mutation. To the best of our knowledge, this is the first report describing a Turkish girl with dRTA who suffered from early-onset SNHL caused by Val2Ala mutation in the ATP6V0A4 gene.

Henoch–Schönlein Purpura in Two Pediatric Patients Presenting as Terminal Ileitis

Keywords Henoch–Scho¨nlein purpura Terminal ileitis Acute abdomen ChildrenIntroductionHenoch–Scho¨nlein purpura (HSP) is a leukocytoclasticvasculitis characterized by a classic tetrad of nonthromb-ocytopenic palpable purpura, arthritis or arthralgias, andgastrointestinal and renal involvement [1]. HSP most oftenoccurs in children and its incidence between 4 and 6 yearsof age has been reported to be 20.4 cases per 100,000children [2]. Ninety percent of affected individuals are lessthan 10 years of age. Etiology is still obscure but somefactors such as vaccination, some foods, infection, andinsect stings have been thought to play a role in the path-ogenesis of HSP [3, 4].Gastrointestinal system symptoms such as abdominalpain, vomiting, or bleeding are observed in 50–75 % of thepatients [5, 6]. Abdominal pain precedes the rash in12–19 % of cases [6, 7]. Cases of HSP presenting as ter-minal ileitis are rarely encountered in childhood andtherefore this condition makes initial HSP diagnosis diffi-cult. Terminal ileitis has rarely been recognized in patientswith HSP. In the literature, to our knowledge, only nineadult HSP patients have been reported to date [8–11]. Inthis paper, due to its rarity, we present two cases of pedi-atric-onset HSP revealed by gastrointestinal involvement.We also intended to emphasize that the HSP diagnosis canbe more difficult when abdominal pain precedes the cuta-neous rash.Case 1An otherwise healthy 4-year-old boy applied to ouremergency service with complaints of vomiting andabdominal pain over the preceding 4 days. On physicalexamination, the patient was pale and mildly dehydrated.His blood pressure, body temperature, heart rate, andrespiratory rate were 110/60 mmHg, 37.5 C, 94 and26/min, respectively. Abdominal examination revealedtenderness, right lower quadrant pain upon palpation, andrebound tenderness. The rest of his physical examination

Severe Renal Osteodystrophy in a Pediatric Patient With End-Stage Renal Disease: Sagliker Syndrome?

Renal osteodystrophy (ROD) is a multifactorial disorder of bone metabolism in chronic kidney disease (CKD). As CKD progresses, ensuing abnormalities in vitamin D metabolism and parathyroid hormone (PTH) secretion result in distortions in trabecular microarchitecture, thinning of the cortical shell, and increased cortical porosity. The recently described Sagliker syndrome (SS) might be an exaggerated version of ROD and is a very striking and prominent feature of secondary hyperparathyroidism in patients with end-stage renal disease (ESRD). It includes a distorted facial appearance, short stature, extremely severe maxillary and mandibulary changes, soft tissue tumors in the mouth, teeth/dental abnormalities, fingertip changes, knee and scapula deformities, hearing abnormalities, and neurologic and psychological problems. We herein describe an affected 14-year-old girl with severe ROD resulting from ESRD, who had severe peripheral and central neurologic problems caused by bone deformities, mimicking the features of Sagliker syndrome.

The Effects of Breastfeeding in Infants With Phenylketonuria

Purpose: 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 infants 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. Design and Methods: Data were collected from chart reviews. Medical records of 142 children with PKU diagnosed via the national neonatal screening program were analyzed retrospectively. Results: 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 &mgr;mol/L) was significantly lower than non‐breastfed infants (490 ± 199 &mgr;mol/L) (p < 0.001). 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). Conclusion: 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. Highlights:Breastfeeding has begun to replace the standard formula in patients with PKU.Recent studies have shown that breastfed infants with PKU have no significant differences in weight gain and mean serum Phe.In this study, more favorable serum Phe levels seen in breastfed infants with phenylketonuria than bottle‐fed infants.Moreover, breastfeeding is shown to positively affect weight gain in patients with PKU during the first year of life.

First report of carglumic acid in a patient with citrullinemia type 1 (argininosuccinate synthetase deficiency)

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.

Changes of thyroid hormonal status in patients receiving ketogenic diet due to intractable epilepsy

Abstract Background: Ketogenic diet (KD), which is high in fat and low in carbohydrates, mimics the metabolic state of starvation and is used therapeutically for pharmacoresistant epilepsy. It is known that generation of triiodothyronine (T3) from thyroxine (T4) decreases during fasting periods. The aim of this study was to evaluate the thyroid function of children receiving KD for at least 1 year due to drug-resistant epilepsy. Methods: A total of 120 patients [63 males, 52.5%; mean age 7.3±4.3 years, median interquartile range (IQR): 7.0 (4–10 years)] treated with KD for at least 1 year were enrolled. Seizure control, side effects, and compliance with the diet were recorded, and free T3, free T4, and thyroid-stimulating hormone (TSH) levels were measured at baseline and at post-treatment months 1, 3, 6, and 12. The Mann-Whitney U-test, repeated measures analysis of variance (ANOVA) with post-hoc Bonferroni correction, and logistic regression analysis were used for data analysis. Results: Hypothyroidism was diagnosed and L-thyroxine medication was initiated for eight, seven and five patients (20 patients in total, 16.7%) at 1, 3, and 6 months of KD therapy, respectively. Logistic regression analysis showed that baseline TSH elevation [odds ratio (OR): 26.91, 95% confidence interval (CI) 6.48–111.76, p<0.001] and female gender (OR: 3.69, 95% CI 1.05–12.97, p=0.042) were independent risk factors for development of hypothyroidism during KD treatment in epileptic children. Conclusions: KD causes thyroid malfunction and L-thyroxine treatment may be required. This is the first report documenting the effect of KD treatment on thyroid function. Thyroid function should be monitored regularly in epileptic patients treated with KD.