Lokman Üstyol

Clinical and neurological findings of severe vitamin B12 deficiency in infancy and importance of early diagnosis and treatment.

Nutritional vitamin B12 deficiency among children in developing countries may lead to a severe clinical status. In this article, the clinical manifestations of vitamin B12 deficiency and the consequences of delay in its diagnosis have been evaluated.

The levels of vitamın B12, folate and homocysteine in mothers and their babies with neural tube defects

Abstract The aim of the present study was to determine the serum levels of vitamin B12, folate, and homocysteine (Hcy) in mothers and their babies, and to assess the association between these levels and neural tube defect (NTD). The study group included 92 baby-mother pairs, where the babies had NTD, and the control group included 102 pairs, where the babies had no NTD, from May 2012 to May 2015. Plasma vitamin B12, folate, and Hcy levels of the babies and mothers were measured, and compared with each other. NTD was diagnosed in 2.6% of our babies. The vitamin B12 levels in the mothers and the babies in the study group were determined as 166.2 ± 63.7 pg/mL and 240.3 ± 120.3 pg/mL, and in the control group as 1 9 0 ± 80.2 pg/mL and 299.5 ± 151.4 pg/mL, respectively. There was a significant difference between the two groups in terms of both the mothers’ and the babies’ vitamin B12 levels (p = 0.024 and p = 0.003, respectively). The plasma folate levels of the mothers in the study group (5.2 ± 3 ng/mL) were significantly lower than control group (6.4 ± 4.3 ng/mL, p = 0.032).The plasma Hcy level of the mothers in the study group (9.3 ± 3.8 μmol/L) was significantly higher than the control group (7 ± 3.8 μmol/L, p < 0.001). High plasma Hcy levels and low plasma folate and vitamin B12 levels are risk factors for NTD. Our results show that the risk for NTD can be decreased by fortification of mothers-to-be, particularly in rural areas with folate and vitamin B12 deficiency, which would lower the plasma Hcy level.

The Clinical Outcome of 260 Pediatric ITP Patients in One Center

In the current study, clinical and laboratory findings and treatment modalities of children with acute and chronic immune thrombocytopenic purpura (ITP) were evaluated retrospectively. Our purpose was to determine clinical outcome of children with ITP and their responses to different treatment regimes. Total of 260 children with ITP were enrolled in the study. The mean age of patients was 76.8 ± 48.1 months. The therapy responses of high-dose methylprednisolone (HDMP; n = 134), standard dose methylprednisolone (n = 32), and intravenous immunoglobulin (IVIG; n = 15) treatments were similar. Two (0.8%) of the 260 ITP patients had intracranial bleeding. None of the patients died due to hemorrhage. Of all the patients with ITP, 191 (73.5%) completely resolved within 6 months after initiation of the disease and therefore they were diagnosed as acute ITP; 69 patients (26.5%) had progressed into chronic ITP. The therapy responses of HDMP, standard dose methylprednisolone, and IVIG treatments are similar.

Association of Attention Deficit Hyperactivity Disorder and Autism Spectrum Disorders with Mean Platelet Volume and Vitamin D

Background The purpose of this study was to assess the values of the mean platelet volume (MPV) in children with attention deficit hyperactivity disorder (ADHD) and with autism spectrum disorders (ASDs) to determine the risk of cardiovascular disease in these 2 disorder groups. Material/Methods The study included a total of 79 patients with ADHD or ASDs and controls in the Van region of Turkey. The control group included subjects of matching age and sex with no ADHD, ASDs, or chronic disease and taking no vitamins. The hematological parameters of the patients, including MPV, vitamin B12, and vitamin D, were assessed. Results The study included a total of 79 children and adolescents aged 2–18 years (32 females and 47 males). Of the patients, 36 were in the ADHD group, 18 in the ASDs group, and 25 in the control group. There was no statistically significant difference in hematological parameters between the groups, but there were significant differences in terms of vitamin D and vitamin B12. The patient groups showed lower levels of vitamin B12 and vitamin D. In the ADHD group, there was a negative correlation between both vitamins and MPV (p<0.05). Partial correlation analysis of the ADHD group showed that MPV in particular was negatively correlated to vitamin D, and not to vitamin B12 (p: 0.03). Conclusions Both ADHD and ASDs may accompany increased risk for cardiovascular disease due to the presence of vitamin B12 and D deficiency and their own characteristics. Therefore, these disorders should be closely followed up.

The spectrum of MEFV gene mutations and genotypes in Van province, the eastern region of Turkey, and report of a novel mutation (R361T)

Familial Mediterranean fever (FMF) is the most common hereditary inflammatory periodic disease, characterized by recurrent episodes of fever and abdominal pain, synovitis, and pleuritis. The aim of this study was to determine the frequency and distribution of Mediterranean fever (MEFV) gene mutations in Van province of Eastern Anatolia and to compare them with the other studies from various regions of Turkey. Therefore, we retrospectively evaluated MEFV gene mutations in 1058 pediatric patients with suspected FMF. The MEFV gene mutations were investigated using Sanger sequencing and the multiplex minisequencing technique. We identified 37 different genotypes and 16 different mutations. The four most common mutations and allelic frequencies were M694V (36.50%), E148Q (32.77%), V726A (14.09%), and M694I (4.41%). M694V was the most common mutation, and the M694I frequency was found to be higher compared to studies from other regions of Turkey. In addition, we identified a novel missense mutation (R361T, c.1082G>C) in exon 3 of the MEFV gene in a 12-year-old boy, who had a typical FMF phenotype. In conclusion, this study evaluated the distribution of MEFV gene mutations in children with FMF as the first study conducted in Van province, Eastern Anatolia.

The Use of Acute Peritoneal Dialysis in Critically Ill Newborns

Background To evaluate the efficacy, complications, and mortality rate of acute peritoneal dialysis (APD) in critically ill newborns. Material/Methods The study included 31 newborns treated in our center between May 2012 and December 2014. Results The mean birth weight, duration of peritoneal dialysis, and gestational age of the patients were determined as 2155.2±032.2 g (580–3900 g), 4 days (1–20 days), and 34 weeks (24–40 weeks), respectively. The main reasons for APD were sepsis (35.5%), postoperative cardiac surgery (16%), hypoxic ischemic encephalopathy (13%), salting of the newborn (9.7%), congenital metabolic disorders (6.1%), congenital renal diseases (6.5%), nonimmune hydrops fetalis (6.5%), and acute kidney injury (AKI) due to severe dehydration (3.2%). APD-related complications were observed in 48.4% of the patients. The complications encountered were catheter leakages in nine patients, catheter obstruction in three patients, peritonitis in two patients, and intestinal perforation in one patient. The general mortality rate was 54.8%, however, the mortality rate in premature newborns was 81.3%. Conclusions APD can be an effective, simple, safe, and important therapy for renal replacement in many neonatal diseases and it can be an appropriate treatment, where necessary, for newborns. Although it may cause some complications, they are not common. However, it should be used carefully, especially in premature newborns who are vulnerable and have a high mortality risk. The recommendation of APD therapy in such cases needs to be verified by further studies in larger patient populations.

A case of congenital hypothyroidism presented with dysmyelinization findings

Abstract The central nervous system is one of the most crucial targeted systems of hyphotiroidism where tissues undergo various broad developmental processes such as neuronal and glial cellular differentiation, migration and myelinization. However brain images are mainly normal. In this article we present findings related to a 1-year-old girl who has been referred to our outpatient clinic with complaints of slowing of movement and lack of interest. She was diagnosed with hypothyroidism. Her brain magnetic resonance image obtained during diagnosis displayed dysmyelinization. It showed improvement after Na-L thyroxin therapy during follow up.

The Syndrome of Inappropriate Secretion of Anti-Diuretic Hormone (SIADH) and Brucellosis.

Background Our study aimed to demonstrate the frequency of the syndrome of inappropriate ADH secretion (SIADH) and associated factors during the course of brucellosis in children and adolescents. Material/Methods The study included children and adolescents aged 0–18 years old diagnosed with brucellosis between 2012 and 2014. The data were collected from patient charts. The diagnosis of brucellosis was made based on titrations >1:160 in standard Wright tube agglutination tests and/or positive culture tests. SIADH diagnosis was made based on the following criteria: euvolemic hyponatremia, serum Na+ <135 mmol/L, presence of serum hypoosmolarity (serum osmolarity <275 mOsm/L), increased urinary sodium (>25 mmol/L with normal dietary salt intake), low uric acid (<2 mg/dL), absence of kidney, thyroid or adrenal disease, and any anti-diuretic use. Results The study included 160 children and adolescents with mean age of 9.58±3.95 years (range: 2–18 years) including 70 girls (43.8%) and 90 boys (56.2%). When the patients were stratified based on SIADH, it was found that SIADH was present in 35 patients (21.9%). SIADH was associated with elevated glucose (p<0.001), ALT (p<0.05), AST (p<0.05), LDH (p<0.001), CRP (p<0.001), and MPV (p<0.001); and decreased potassium (p<0.05), chloride (p<0.001), albumin (p<0.001), total protein (p<0.05), and hemoglobin (p<0.05) levels. Conclusions Our study reports on the frequency, clinical characteristics, predisposing factors, and management of SIADH that can develop in children and adolescents diagnosed with brucellosis.

Cystinosis in Eastern Turkey.

Abstract Background: This study was conducted to investigate CTNS (cystinosin, lysosomal cystine transporter) gene mutations and the clinical spectrum of nephropathic cystinosis among patients diagnosed with the disease in a single center in Turkey. Methods: Patients’ clinical and laboratory data were extracted from an electronic health registry. Molecular CTNS gene analysis was performed using either next-generation sequencing or Sanger sequencing. Results: Eleven patients (age range: 1.5–12 years) from nine families were identified. The presenting complaint was growth retardation in seven patients; polydipsia and polyuria in three patients; and vomiting in two patients. At presentation, electrolyte loss was noted in all patients, of which eight patients presented with metabolic acidosis, and three patients presented with metabolic alkalosis. All patients also presented with proteinuria and glucosuria, and four patients developed varying degrees of renal insufficiency, for which peritoneal dialysis was initiated in one patient. Cystine crystals were detected via ocular examination in one patient at presentation. No cystine crystals were detected among patients who underwent bone marrow aspiration. In the CTNS gene, a p.T7FX7 (c.18-21del4bp) mutation was detected in three patients, whereas a p.E227E (c.681 G>A) (homozygous) mutation was detected in eight patients. Conclusions: We detected two distinct mutations, p.T7FX7 (c.18-21del4bp) and p.E227E (c.681 G>A) (homozygous), in the CTNS gene in 11 patients with cystinosis from the East Anatolian region of Turkey. Patients with a homozygous c.681 G>A (p.E227E) mutation are more likely to develop chronic renal failure and should be monitored closely, whereas patients with a p.T7FX7 (c.18-21del4bp) mutation have a milder phenotype. Additionally, metabolic alkalosis does not exclude cystinosis, although cystinosis is a cause of proximal renal tubular acidosis.

Impact of patent ductus arteriosus and subsequent therapy with ibuprofen on the release of S-100B and oxidative stress index in preterm infants.

Background Hemodynamically significant patent ductus arteriosus (hsPDA) leads to injury in tissues/organs by reducing perfusion of organs and causing oxidative stress. The purpose of this study was to evaluate the oxidant/antioxidant status in preterm infants with hsPDA by measuring the total antioxidant capacity and total oxidant status and to assess neuronal damage due to oxidant stress related to hsPDA. Material/Methods This prospective study included 37 low-birth-weight infants with echocardiographically diagnosed hsPDA treated with oral ibuprofen and a control group of 40 infants without PDA. Blood samples were taken from all infants, and than the total antioxidant capacity (TAC), total oxidant status (TOS), and S-100B protein levels were assessed and oxidative stress index was calculated before and after therapy. Results The mean pre-therapy TOS level and oxidative stress index (OSI) value of the patients with hsPDA were significantly higher, but TAC level was lower than in the control group. There were no statistically significant differences in the mean post-therapy values of TOS, TAC, OSI, and S-100B protein between the two groups. Conclusions hsPDA may cause cellular injury by increasing oxidative stress and damaging tissue perfusion; however the brain can compensate for oxidative stress and impaired tissue perfusion through well-developed autoregulation systems to decrease tissue injury.