Ahmet Aydin

Differences in the gut microbiota of healthy children and those with type 1 diabetes

Intestinal barriers, intestinal flora, and mucosal immunity are the main factors responsible for the development of various allergic and autoimmune diseases. The aim of this study was to investigate the relationship between the intestinal flora of children and the presence of type 1 diabetes, and to determine if gut microbiota could partly explain the etiology of the disease.

MRI and MRS in HMG-CoA lyase deficiency

3-Hydroxy-3-Methylglutaryl coenzyme A lyase (HMG-CoA) deficiency is a rare inborn error of leucine catabolism. The disease is characterized by recurrent episodes of metabolic acidosis, hyperammonemia without ketosis, hypoglycemia, lethargy, hepatomegaly, and seizures. This study has evaluated the magnetic resonance imaging (MRI) and magnetic resonance spectroscopy (MRS) findings of three patients with HMG-CoA deficiency. The common findings on all of the MRI scans were multiple, coalescent, marked lesions in periventricular white matter and arcuate fibers, most prominently in frontal or periatrial regions that were superimposed on diffuse, slightly hyperintense subcortical white matter signal. Involvement of the caudate nucleus and the dentate nucleus were observed in the reported patients. MRS studies by both STEAM and PRESS spectra of all patients revealed a decrease in N-acetylaspartate and elevation in both myoinositol and choline. A pathologic peak at 1.33 ppm, which is compatible with lactate, and a particular peak at 2.42 ppm in all patients were also found. The combination of both MRI and MRS findings could be considered as being specific in patients with HMG-CoA lyase deficiency.

Seizures during treatment of Vitamin B12 deficiency

Epileptic seizures during infancy have a wide variety of clinical presentations and the outcome differs according to the etiology. Among the benign and rare causes of infantile seizures, Vitamin B12 deficiency has been encountered. Common symptoms of Vitamin B12 deficiency in infants include megaloblastic anemia, feeding difficulties, developmental delay, microcephaly, failure to thrive, hypotonia, lethargy, irritability, involuntary movements, seizures and cerebral atrophy. Involuntary movements and seizures may rarely be the initial symptoms of Vitamin B12 deficiency. Involuntary movements have also been reported to appear after initiation of Vitamin B12 supplementation in isolated cases, whereas, no such information exits for seizures. In this paper, three infants with Vitamin B12 deficiency associated with motor and mental retardation are reported because of long-lasting focal/multifocal epileptic seizures following the initiation of intramuscular Vitamin B12 treatment. Antiepileptics were introduced in addition to Vitamin B12. Seizures disappeared within a few days or weeks; electroencephalographic findings were normalized in a few months. No relapses occurred during the follow-up period.

Capillary leak syndrome in a 5-month-old infant associated with intractable diarrhoea

Abstract Systemic capillary leak syndrome (SCLS) is a rare disorder of unknown pathophysiology, characterised by episodic life-threatening hypotension, haemoconcentration and hypo-albuminaemia. A 5-month-old child presented with episodes of relapsing diarrhoea, vomiting and hyponatraemia and developed generalised oedema during treatment. Clinical and laboratory findings were consistent with acute SCLS. Treatment with careful fluid replacement, fresh frozen plasma and aminophylline in the acute phase and teophylline and gingko biloba in the chronic phase led to sustained remission during follow-up for over 1 year. To our knowledge, this is the youngest case of SCLS in the literature and is unusual in that it presented with diarrhoea.

Reduced immune response to hepatitis B vaccine in children with insulin dependent diabetes

Twenty‐four patients with moderately controlled insulin dependent diabetes with a duration of diabetes ranging from 2 to 10 years as well as 17 control subjects were vaccinated against hepatitis B virus using Gen Hevac B vaccine. The vaccine was injected 0.5 mL intramuscularly into the deltoid region on three separate occasions at intervals of 1 month. If subjects were still negative for anti‐hepatitis B surface antigen (HBs) or had inadequate antibody after the third injection, a fourth administration of vaccine was given 3 months later. The mean anti‐HBs titer was 243.3 ± 97.2 mi.u./mL in control subjects and 39.8 ± 53.2 in diabetic patients (P < 0.001). In the control group optimal protection was obtained in 100% of subjects, whereas 11 diabetic patients (45.8%) had low anti‐HBs titer (< 10 mi.u./mL). All of 11 diabetic patients showed adequate (> 10 mi.u./mL) anti‐HBs titer after the fourth dose of vaccine. In diabetic patients the most striking feature was the reduced CD4/CD8 ratio which was significantly lower (P < 0.001) than that of the control group. We conclude that diabetic children have an impaired immune response to hepatitis B vaccine. It is suggested that diabetic children should be vaccinated against hepatitis B virus with four injections instead of three.

The effect of low‐carbohydrate diet on left ventricular diastolic function in obese children

Background:  This study was conducted to evaluate left ventricle (LV) functions using conventional and tissue Doppler imaging in childhood obesity and to identify the effects of diet on LV diastolic functions.

Asymptomatic cardiomyopathy in children and adolescents with type 1 diabetes mellitus: association of echocardiographic indicators with duration of diabetes mellitus and metabolic parameters.

This study was designed to determine the relationship of dimensions, wall thickness and function of the left ventricle with diabetes duration, fasting blood glucose, lipid profile, beta-OH-butyrate, free fatty acids (FFA) and carnitine levels in children and adolescents with type 1 diabetes mellitus (DM1) who had no cardiovascular complications. Thirty-five patients with DM1 (18 F/17 M, mean age: 12.0 years) and age matched control children (n = 24) were enrolled in the study. Patients with DM1 were subdivided into Group I (mean DM1 duration 3.5 years, n = 14), and Group II (mean DM1 duration 8.2 years, n = 21). Dimensions, wall thickness and systolic functions of the left ventricle were normal in all patients with DM1. Diastolic functions were normal in Group I. In Group II, peak A wave velocity (AVEL) (p = 0.004), velocity-time integral of A wave (AVTI) (p = 0.007) and isovolumetric relaxation time corrected by heart rate (cIVRT) (p = 0.048) were high, and peak E wave velocity (EVEL) and velocity-time integral of E wave (EVTI) were normal. E/A (p < 0.0001) and EVTI/AVTI (p = 0.001) were low in this group. In Group I, systolic and diastolic blood pressure, HDL-cholesterol and FFA values were normal; total cholesterol (p = 0.047), LDL-cholesterol (p = 0.017), beta-OH-butyrate (p = 0.003), and acetyl carnitine (p = 0.006) levels were high. In Group II, diastolic blood pressure (p = 0.008), total cholesterol (p < 0.0001) and LDL-cholesterol (p < 0.0001) were increased; and total carnitine (p = 0.019), free carnitine (p = 0.002) and HDL-cholesterol (p = 0.039) were decreased. Correlations were detected between total carnitine and AVEL and HR; free carnitine and AVEL, E/A and HR; HbA1c and EVTI/AVTI and cIVRT; LDL-cholesterol and E/A, EVTI/AVTI ratios and cIVRT; HDL-cholesterol and AVEL; FFA and LVDD, IVSD, LVPWD, LVmass and CO; metabolic parameters and DM1 duration and echocardiographic findings such as AVEL, EVEL, EVTI, VmaxAV and CO. In conclusion, left ventricular dimensions, wall thickness and systolic functions were normal in children and adolescents with DM1 who had no obvious cardiovascular complications. Left ventricular diastolic functions were abnormal in patients of Group II. Left ventricular diastolic function abnormalities were associated with glycemic control, free and total carnitine, and LDL- and HDL-cholesterol levels.

Effects of hemorheological factors on the development of hypertension in diabetic children.

The aim of this study was to investigate the effects of hemorheological factors on the development of hypertension in diabetic children without retinopathy and persistent microalbuminuria. Arterial blood pressures were measured in 46 diabetic children and were compared with those of 29 healthy non-obese and 32 obese age- and sex-matched children. Higher systolic (SBP) (109.0 +/- 13.0 mmHg) and diastolic blood pressure (DBP) (74.3 +/- 9.5 mmHg) were obtained in diabetics (independent of age, sex, duration, and control degree of diabetes), when compared with non-obese children (SBP: 97.9 +/- 10.3 mmHg, DBP: 74.3 +/- 9.5 mmHg; p < 0.01, p < 0.05, respectively). No significant DBP and SBP difference was found between diabetics and obese children. When compared with non-obese children, blood viscosity, plasma viscosity, serum viscosity, serum albumin, and plasma fibrinogen values were found elevated in diabetics and were correlated with SBP and DBP. Serum haptoglobin levels and lipid profile were normal. The multivariate discriminant analysis demonstrated plasma viscosity and fibrinogen to be the most important variables related to the development of hypertension. The results of this study revealed that: (1) arterial blood pressures are high in diabetic patients independent of age, sex, duration of diabetes, control degree of diabetes, and lipid profiles; (2) arterial blood pressure levels in diabetic children are affected primarily from changes of plasma viscosity and fibrinogen; and (3) a common mechanism might play a role in the pathogenesis of hypertension in obese and diabetic children.

Hereditary tyrosinemia type 1 in Turkey: twenty year single-center experience.

Hereditary tyrosinemia type 1(HT1) is a chronic disorder leading to severe hepatic, renal and peripheral nerve damage if left untreated. Despite nitisinone treatment HT1 still carries the risks of hepatocellular carcinoma (HCC) and neuropsychological outcome.

Outpatient treatment of propionic acidemia-associated hyperammonemia with N-carbamoyl-L-glutamate in an infant.

OBJECTIVE The aim of this research letter was to describe the use of N-carbamoyl-L-glutamate as first-line treatment of hyperammonemia in a 4-month-old female patient with propionic acidemia (PA). METHODS A 4-month-old female patient weighing 3.9 kg presented with decompensation with PA and initial hyperammonemia of 451 microg/dL. The patient was receiving a protein-restricted diet supplemented with L-carnitine at a dosage of 100 mg/kg/d during 2 consecutive months. Treatment with N-carbamoyl-L-glutamate was administered during 4 days on an outpatient basis at a dosage of 100 mg/kg/d, representing a dosage of 200 mg BID. The patients hyperammonemia was monitored for 1 week. RESULTS The patients ammonia concentration started to decrease on the first day of the initiation of the treatment with N-carbamoyl-L-glutamate, from 451 to 68 microg/dL (normal range, 10-80 microg/dL) at day 6 of follow-up. The patient did not require intravenous fluids, invasive procedures, or hospitalization. CONCLUSION N-carbamoyl-L-glutamate, combined with a protein-restricted diet and L-carnitine supplementation, was apparently effective as first-line treatment of hyperammonemia in this infant with PA.