Mustafa Bak

Procalcitonin: A Marker of Neonatal Sepsis

This study was designed to assess the value of procalcitonin in establishing the diagnosis and evaluating the prognosis of neonatal sepsis. Thirty-four infants with neonatal sepsis were included in the study. Procalcitonin values of the cases with sepsis were (2.21 +/- 2.48 ng/ml) significantly higher than the values in the control group (0.71 +/- 0.5 ng/ml; p = 0.01). On the 7th day of therapy neonates who had achieved clinical recovery had a significant decrease of procalcitonin levels (0.55 +/- 0.27 ng/ml) compared to the initial values (p = 0.001). Initial mean procalcitonin levels of the cases resulting in death were 4.31 +/- 3.66 g/ml. This was significantly higher than the initial values of the patients who had clinical recovery (1.18 +/- 1.24 ng/ml;p = 0.02). Procalcitonin is a valuable marker for diagnosis, for evaluating prognosis and response to therapy in neonatal sepsis.

ACE gene insertion/deletion polymorphism in childhood idiopathic nephrotic syndrome.

Abstract The aim of this study was to determine the distribution of angiotensin converting enzyme (ACE) gene insertion/deletion (I/D) polymorphism, and its effects on clinical, laboratory, histological findings, treatment responses and progression to end-stage renal disease in childhood idiopathic nephrotic syndrome (NS). 227 children diagnosed with idiopathic NS were included in the study. Eighty-three of patients were steroid resistant and 77 of patients were focal segmental glomerulosclerosis. The control group was consisted of 287 unrelated healthy adult volunteers. ACE gene I/D polymorphism were analyzed by using PCR based method. In the entire group of children with NS, the frequencies of the II, ID, and DD genotypes of ACE gene were 13.7%, 38.3% and 48%, respectively. D allele frequency was higher in NS group than control group (0.67 vs. 0.56, p=0.001). Percentage of frequent relapser patients was found more frequently in ID or DD genotype (38.7%) than II genotype (15%) when only steroid sensitive patients were evaluated (p=0.045). The D-allele frequency was 0.65, 0.69 and 0.68 respectively in focal segmental glomerulosclerosis, biopsy proven minimal change and entire minimal change group (p>0.05) and 0.69 and 0.64 respectively in steroid sensitive and resistant groups (p>0.05). D allele frequency was not significantly different in patients with or without end-stage renal disease (0.64 vs. 0.67 respectively, p>0.005) when 115 patients who were at least five year follow-up were evaluated. The D allele frequency was higher in NS patients than healthy controls and DD or ID genotype was related with frequent relapses. ACE gene I/D polymorphism was not important in laboratory and histological findings and progression of the disease in children with NS.

Low density lipoprotein apheresis in pediatric patients with homozygous familial hypercholesterolemia.

The aim of the present study is to clarify the low density lipoprotein apheresis procedure for pediatric patients with homozygous familial hypercholesterolemia (FH) in terms of efficacy, adverse effects and difficulties. The follow‐up was carried out using an open, prospective uncontrolled clinical design. Data were collected from 10 patients (with an average age of 8.4 ± 4.7 years) with FH treated with double filtration plasmapheresis. The total time span of follow‐up covered five years (30.2 ± 17.8 months [range 9–60 months]) and more than 600 sessions (62.1 ± 35.5 sessions per patient [range 18–120 sessions]) were evaluated. The mean low density lipoprotein cholesterol (LDL‐C) pre‐treatment value was 375.5 ± 127.5 mg/dL, and the post‐treatment value was 147.5 ± 73.9 mg/dL. This corresponded to a 62.8 ± 10.3% (43–73%) acute reduction of LDL‐C, while the mean high density lipoprotein cholesterol losses amounted to 41%. The chronic reduction in LDL‐C ranged from 18 to 52%, with a mean level of 36.4 ± 11.7%. The most frequently occurring technical problems were related to blood lines: puncture difficulties (4.5%), insufficient blood flow (3.5%), and obturation of the blood lines (2.4%). The main clinical adverse effects were hypotension (0.2%), chills/feeling cold (0.1%), and nausea and vomiting (0.2%). We observed that the low pediatric patient tolerance is the main problem in compliance with treatment. In conclusion, LDL apheresis, started under the age of eight years, combined with lipid‐lowering drugs, provides a safe and effective lowering of the mean LDL‐C levels in pediatric homozygous FH; and there are more problems with compliance for pediatric LDL apheresis than in the adult population.

A novel missense mutation of the bilirubin UDP-glucuronosyltransferase gene in a Turkish patient with Crigler-Najjar syndrome type 1.

Crigler-Najjar syndrome type 1 is a severe form of hereditary unconjugated hyperbilirubinemia caused by mutations in the bilirubin UDP-glucuronosyltransferase gene (UGT1A1) (1). Persons with this syndrome have homozygous or compound heterozygous nonsense mutations, frame shift mutations, or splicing site mutations (2,3); some have missense mutations (4). Here we report a novel missense mutation of UGT1A1 in a Turkish infant with Crigler-Najjar syndrome type 1.

Involution of multicystic dysplastic kidney: Is it predictable?

OBJECTIVE To evaluate the clinical course of multicystic dysplastic kidney (MCDK) and to reveal any criteria indicating spontaneous involution. MATERIAL METHODS Hospital records of patients with MCDK followed in two different institutions in 1994-2009 were reviewed and data were analyzed regarding involution. RESULTS Records of 96 patients were reviewed, of whom 46 were diagnosed antenatally and followed for more than 1 year. Fourteen patients had undergone nephrectomy. There was one case of hypertension which resided with nephrectomy. There was no malignancy. Involution rate was 53.6% (15/28) for right-sided and only 16.7% (3/18) for left-sided kidneys. The initial size of the kidney was found to be another predictive parameter for involution. Initial sizes of 43 (15 involuted and 28 non-involuted) kidneys were documented. Mean standard deviation score for involuting and non-involuting kidneys was -3.19 and 3.12, respectively. The chance of involution for a large kidney on the left was zero; however, involution risk for a small right-sided kidney was 67%. CONCLUSION Reviewing a 15-year period of our patient records conveyed data supporting current literature mainly encouraging non-operative management of MCDK. Further studies are required; however, our two objective indicators, the initial size and side of dysplastic kidney, may contribute to the management.

Impact of haemodialysis on QTc dispersion in children

Background:  The purpose of the present paper was to investigate the corrected QT (QTc) interval and QTc dispersion value, and the impact of haemodialysis on these parameters in children with chronic renal failure.

Association of mannose binding lectin codon 54 polymorphism with predisposition to Henoch–Schönlein purpura in childhood

Immune and inflammatory response activation is a common feature of systemic vasculitis. There is a protein called mannose binding lectin (MBL) that was reported to play an important role in innate immunity. MBL polymorphisms in the MBL gene cause predisposition to infectious and autoimmune diseases. There is no study in the literature investigating the association between MBL polymorphisms and Henoch–Schönlein purpura (HSP) to date. Therefore, the aim of this study is to determine the presence of any association between MBL gene variants and HSP in a child population.

Low‐Density Lipoprotein Apheresis by Membrane Differential Filtration (Cascade Filtration) via Arteriovenous Fistula Performed in Children With Familial Hypercholesterolemia

Membrane differential filtration (cascade filtration) is an apheresis technique by which atherogenic lipoproteins can be eliminated from plasma on the basis of particle size. In this study, we aim to discuss the efficacy of low‐density lipoprotein (LDL) apheresis performed by providing alternative vascular routes in two siblings with familial hypercholesterolemia who did not respond to medical treatment and diet. Of the two siblings, one was nine years old and the other one was three‐and‐a‐half years old. Of the total of 78 apheresis processes performed, 24 were done via a permanent subclavian catheter, 36 were done via a subsequently provided arteriovenous fistula, and 18 were done via an arteriovenous graft. We observed a mean reduction in the plasma levels of total cholesterol (61.6%), LDL cholesterol (65.5%), and high‐density lipoprotein cholesterol (38.6%). We noted that cascade filtration apheresis was effective in decreasing the LDL cholesterol in plasma, and no serious complications were noted. The success of the apheresis program depends on well‐functioning blood access. An arteriovenous fistula may be the best route for the long‐term treatment of familial hypercholesterolemia, which requires complication‐free apheresis treatments.

Neurological manifestations of vitamin B12 deficiency in 15 infants.

Nutritional vitamin B12 deficiency in infancy is rare, and so far, case reports or few case series declared. Neurological symptoms of vitamin B12 deficiency are heterogeneous and include irritability, apathy, developmental regression, hypotonia, tremor, ataxia, seizures. We report of the clinical findings and neurological abnormalities in fifteen infants with nutritional vitamin B12 deficiency seen during the last 1 year and an attempt made to obtain short-term neurologic follow-up. All of these cases were breastfed and maternal diet was strict vegan or poor of meat. Clinical findings and laboratory results normalized rapidly after vitamin B12 administration and fifteen children who qualified for short-term neuromotor development had well outcome. We emphasized here the early diagnosis of vitamin B12 deficiency is very important because psychomotor and mental damage could be reversible with appropriate treatment.

Effect of adventitial dissection in brachiobasilic arteriovenous fistulae opened in children as vascular access for hemodialysis on patency and maturation of fistulae.

Background Recently, therapy of pediatric patients with chronic renal failure has been carried out using hemodialysis, peritoneal dialysis, or renal transplant. In this study, we prospectively investigated the role of adventitial dissection (performed on brachiobasilic arteriovenous fistulae in the antecubital area) in the patency rate, maturation, and early initiation of dialysis among pediatric cases undergoing chronic hemodialysis. Methods Thirty children (7 male and 23 females) were included in this study. They were operated on at the Department of Cardiovascular Surgery of Alsancak State Hospital and Dokuz Eylul University between March 2001 and June 2003. Their mean age was 12.3 ± 2.9 years (range 7-17 years), and their mean weight was 25.5 ± 7.9 kg (range 16-44 kg). Children who underwent only brachiobasilic arteriovenous fistula operation were included. Group 1 (n = 15) consisted of those who underwent adventitial dissection, and group 2 (n = 15) consisted of those not receiving the adventitial dissection procedure. Results The procedure was conducted by the same surgeon, and follow-up examinations were done at the Department of Pediatric Nephrology by investigators masked to treatment groups. Conclusion There were no significant differences in age, sex, existence of preoperative hypertension, diameter of vein measured preoperatively, and first day of dialysis between the groups. In 29 cases, a palpable thrill was noted at the operation site. Hemodialysis had been initiated after the fourth week, when the fistulae had matured. The mean duration of follow-up was 12.53 ± 8.98 months in group 1 and 11.85 ± 7.55 months in group 2 (p = .880). In group 1, one case developed fistula infection in the second month and one case developed lymphatic drainage. In group 2, one case developed early thrombosis, one case developed hematoma, and one case developed transient ischemia owing to arterial spasm in the ipsilateral limb. One case in each group developed minimal edema in the forearm, which was treated conservatively. The primary patency rate was 93.3% in both groups, whereas the secondary patency rate was 100% in group 1. Adventitial dissection performed on the vein during arteriovenous fistula formation does not result in any additional benefit with respect to fistula maturation, early initiation of dialysis, and patency. Among pediatric patients with chronic renal failure, in cases of inappropriate forearm veins, brachial arteriovenous fistulae performed with a meticulous surgical technique should be the procedure of choice because it is associated with minimal complications and a high patency rate.