Low-carb Diet in Hospitalized Late Pubertal Type 1 Diabetic Girls: A Short-Term CGM Study.

OBJECTIVE: We conducted the present study to observe potential short-term benefits or risks of low-carb diet (LCD). METHODS: This is a prospective randomized cross-over study. Type 1 diabetic girls were hospitalized in ternary groups for 7 days and each group randomly started with LCD or regular diet. Continuous glucose monitoring (CGM) was performed between 0 and 168 h. RESULTS: Twenty-eight subjects completed the study. Total energy, protein, and fat consumption were high (P < 0.001); carbohydrate consumption and rapidly acting insulin dose were low (P < 0.001 and P = 0.002, respectively) during LCD. Morning postprandial, noon postprandial, and evening preprandial capillary blood sugar levels were lower during LCD (P = 0.013, 0.018, and 0.048, respectively). CONCLUSION: LCD may have the advantage of better glycemic control despite lower insulin dose which is a favorable outcome with regard to weight control and atherosclerosis prevention. No adverse events were observed.

Clinical and molecular findings in a Turkish family with an ultra-rare condition, ELP2-related neurodevelopmental disorder.

Elongator is a multi-subunit protein complex bearing six different protein subunits, Elp1 to -6, that are highly conserved among eukaryotes. Elp2 is the second major subunit of Elongator and, together with Elp1 and Elp3, form the catalytic core of this essential complex. Pathogenic variants that affect the structure and function of the Elongator complex may cause neurodevelopmental disorders. Here, we report on a new family with three children affected with a severe form of intellectual disability along with spastic tetraparesis, choreoathetosis, and self injury. Molecular genetic analyses reveal a homozygous missense variant in the ELP2 gene (NM_018255.4 (ELP2): c.1385G > A (p.Arg462Gln)), while in silico studies suggest a loss of electrostatic interactions that may contribute to the overall stability of the encoded protein. We also include a comparison of the patients with ELP2-related neurodevelopmental disorder to those previously reported in the literature. Apart from being affected with intellectual disability, we have extremely limited clinical knowledge about patients harboring ELP2 variants. Besides providing support to the causal role of p.Arg462Gln in ELP2-related neurodevelopmental disorder, we add self-injurious behavior to the clinical phenotypic repertoire of the disease.

Serum 25-hydroxyvitamin D is associated with insulin resistance independently of obesity in children ages 5-17.

AIM: To determine the association of vitamin D with insulin resistance and obesity in children. METHODS: A total of 92 obese and 58 non-obese children aged 5-17 years were evaluated. Data were collected related to anthropometric (weight, height), and biochemical parameters (fasting plasma glucose, serum insulin, serum 25-hydroxyvitamin D, lipid profile, vitamin B12, parathormone) and physical examination (blood pressure, acanthosis nigricans, stria, lipomastia). Insulin resistance (IR) was calculated using the homeostasis model assessment (HOMA). HOMA-IR = fasting insulin level (µU/ml) × fasting glucose (mg/dL)/405. A HOMA-IR value >2.5 was defined as insulin resistance. RESULTS: According to the US Endocrine Society classification, vitamin D deficiency (0-20 ng/ml) was determined at significantly higher rates in the obese group than in the control group (p < 0.001). The rate of subjects with a vitamin D level of 20-30 ng/ml was significantly lower in the obese group than in the control group (p < 0.001) Within the obese group a statistically significant difference was determined between the insulin resistant and non-insulin resistant groups in respect of serum 25-hydroxyvitamin D levels (p = 0.001) and vitamin B12 levels (p = 0.001). A significant negative correlation was determined between serum 25-hydroxyvitamin D and HOMA-IR (r=-0.256, p = 0.016) and insulin (r = -0.258, p = 0.015). The systolic blood pressure (p = 0.001) and diastolic blood pressure (p = 0.003) values were significantly different in the control and obese groups. A statistically significant difference was determined between the control and obese groups in terms of the levels of insulin, HOMA-IR, HbA1c, cortisol, LDL, total cholesterol, HDL, triglyceride, hemoglobin, MCV, MPV, and calcium. CONCLUSION: The prevalence of vitamin D deficiency was higher in obese children compared to normal-weight and overweight children. Serum 25(OH)D levels showed a negative correlation with insulin and HOMA-IR. Serum 25(OH)D is associated with insulin resistance independently of obesity.

Use of Intravenous Lipid Emulsion Therapy in a Case of Atomoxetine (Strattera®) Toxicity.

BACKGROUND: Clinical manifestations after overdose of atomoxetine are generally mild. However, it may have moderate or severe toxic effects such as drowsiness, agitation, hyperactivity, tremors, tachycardia, hyperreflexia, hypertension, and seizures. The duration of symptoms is usually short, lasting < 24 h. We report a case of atomoxetine toxicity, which can be considered of value, as intravenous lipid emulsion therapy has not been previously reported in an overdose of atomoxetine. This is a case of atomoxetine toxicity initially thought to be sertraline. CASE REPORT: The case is presented of a 14-year-old girl with seizures following an overdose of atomoxetine who was unresponsive to intravenous benzodiazepine, but showed an improvement in overall condition after intravenous lipid emulsion therapy. To the best of our knowledge, there has been no previous report in the literature of the use of intravenous lipid therapy after atomoxetine overdose. WHY SHOULD AN EMERGENCY PHYSICIAN BE AWARE OF THIS?: Intravenous lipid emulsion therapy is used as an alternative therapy in acute lipophilic drug intoxications. In children and adults, there is an increase in the use of intravenous lipid emulsion therapy in the life-threatening toxicity of many lipophilic drugs. Intravenous lipid emulsion therapy provides 'lipid sink' for toxic, lipophilic drugs, thereby effectively keeping toxic and lipophilic drugs out of the periphery. Intravenous lipid emulsion therapy reduces the distribution of lipophilic drugs.

Short Term Unscheduled Revisits to Paediatric Emergency Department - A Six Year Data.

INTRODUCTION: Reviewing the reasons for return visits within 24 hours is a very important method of determining possible problems of emergency health care. Several causes stay behind unscheduled emergency return visits. Therefore, identifying these factors is crucial to set strategies in order to decrease the number of unnecessary visits. AIM: To define the characteristics of the patients returning to the Paediatric Emergency Department (PED) within 24 hours via determining rate, number and demographic data of patients. MATERIALS AND METHODS: The present study design involves retrospective data collection of patients who returned to PED within 24 hours after being discharged. Data was included over six year period and was collected from July 1, 2010 to June 30, 2016. The data was analysed with SPSS17.0 statistical package for windows. RESULTS: A total of 1994 patients returned to PED within 24 hours from July 1, 2010 to June 30, 2016. The most common group of revisiting patients were toddlers (aged 0-2-year old), n=1168 (58.5%), and the least number represented young adolescents (aged 15-18-year old), n=82 (4.1%). Number of patients returning to PED in 24 hours has significantly increased within years from approximately 90 patients to 720 (p<0.05). This increase in number was observed in all and each age group (from 0-18 years of age) without any exception. Seasonal distribution of the patients showed no significant difference (p>0.05) for each age, but again, presented definite negative correlation with age (the older is the patient group, the less is the number of revisits). The most common time for revisits was 17-24 hours after first discharge from PED, n=1277 (64.04%). CONCLUSION: The number of return visits is increasing over the years. The younger the patient is, more likely is the risk of unscheduled revisit to PED. Most of the patients returned to PED in 17 to 24 hours after discharge.

The prevalence of goiter and hypothyroidism among school children 6 years after introduction of a mandatory salt iodination program in a severely iodine-deficient area of the West Black Sea region of Turkey.

The objective of the current study was to determine the prevalence and the degree of iodine deficiency after mandatory salt iodization in Yigilca's school-aged children. A total of 806 school children aged 6-19 years were evaluated. The prevalence of goiter in children aged 6-12 and 13-19 years was 20.3 and 23.8%, respectively. The prevalence of hypothyroidism in children aged 6-12 and 13-19 years was 10.4 and 18.9%, respectively. The median serum free tetraiodothyronine (fT4) levels in children aged 6-12 and 13-19-years were 1.16 ng/dL and 0.91 ng/dL, respectively. The median urinary iodine concentration levels in children aged 6-12 and 13-19 years were 83 µg/l and 78 µg/l, respectively. The frequency of autoimmune thyroid disease was 2.1% in Yigilca's SAC. Goiter and iodine deficiency problems remain in rural areas of the West Black Sea Region of Turkey.

The effect of maximum voided volume on response to desmopressin therapy in children with enuresis.

PURPOSE: This study was aimed to determine the effect of maximum voided volume (MVV) on the efficacy of desmopressin, which is commonly used to treat primary monosymptomatic nocturnal enuresis (PMNE) in children and adolescents. MATERIALS AND METHODS: Bladder capacity was measured with different methods in 52 patients with PMNE, and the effect of bladder capacity on desmopressin therapy was investigated. RESULTS: Patients with PMNE in whom MVV was 70% or less of estimated bladder capacity were found to be unresponsive to desmopressin therapy. CONCLUSION: The MVV can be measured before desmopressin therapy in patients with PMNE as a marker to predict treatment success. Our results suggest that desmopressin should not be used in patients with low MVV.

Do gastrointestinal and respiratory signs and symptoms correlate with the severity of gastroesophageal reflux?

BACKGROUND: Gastroesophageal reflux (GER) is a disorder that is common by seen in childhood and may lead to severe complications. In this study, we ascertained the incidence of GER among the children who had typical and atypical complaints of GER and whether there was a difference between two groups comparing the findings of 24-hour pH-meter. METHODS: 39 out of 70 patients with typical and atypical GER symptoms were diagnosed as GER by 24-hour pH-meter monitoring. The patients were divided into three groups, those having gastrointestinal complaints, those having respiratory complaints and those having both gastrointestinal and respiratory symptoms. RESULTS: Evaluated the GER prevalence in these groups, it was found to be 60% in the gastrointestinal group, 48.6% in the respiratory group and 75% in the mixed group. When pH-meter measurements of GER positive patients were compared within the clinical groups, the fraction of time that pH was lower than 4 was found to be significantly higher in the mixed group (p = 0.004). CONCLUSIONS: The coexistence of gastrointestinal and respiratory symptoms in the patients with GER may be related to the severe reflux.

Case of isolated thrombocytopenia due to cobalamin deficiency.

The most common form of isolated thrombocytopenia is idiopathic thrombocytopenic purpura (ITP) in childhood. Hence, pediatricians consider a possible diagnosis of ITP in patients with isolated thrombocytopenia who are admitted to hospital with complaints of skin findings such as petechiae, purpura, and ecchymosis. It is well known that cobalamin deficiency may also cause thrombocytopenia together with anemia and leukopenia in children. However, isolated thrombocytopenia due to cobalamin deficiency has rarely been reported in literature. In this case report, we present a 7-year-old female patient with isolated thrombocytopenia that was improved by cyanocobalamin therapy.

Doppler waveforms of the hepatic veins in children with diffuse fatty infiltration of the liver.

OBJECTIVE: The aim of this study was to investigate the effect of fatty infiltration of the liver (FIL) on the Doppler waveform pattern in the hepatic veins of obese children. METHODS: In this prospective study, 59 patients with diffuse FIL and 45 normal healthy children who served as control group underwent hepatic vein B-mod and duplex Doppler sonography. The Doppler sonography spectrum of the right hepatic vein was classified into three groups: triphasic waveform, biphasic waveform, and monophasic or flat waveform. RESULTS: There was a statistically significant difference in the phasicity of hepatic venous flow between patients and control subjects (p<0.001). The Doppler flow pattern in the right hepatic vein was triphasic in 28 (47.5%), biphasic in 28 (47.5%), and monophasic in 3 (5%) children with fatty liver, while it was triphasic in 43 (95.6%) and biphasic in 2 (4.4%) control subjects. There was an inverse correlation between the sonographic grade of fatty infiltration of the liver and the phasicity of hepatic venous flow (r=-0.479, p<0.001). CONCLUSIONS: Abnormal right hepatic vein Doppler waveform, biphasic as well as monophasic, can be seen in healthy obese children with diffuse FIL.

A newborn with Cornelia de Lange syndrome: a case report.

Cornelia de Lange syndrome (CdLS) is a rarely seen multisystem developmental disorder syndrome characterized by facial dysmorphia (arched eyebrows, synophrys, depressed nasal bridge, long philtrum, down-turned angles of the mouth), upper-extremity malformations, hirsutism, cardiac defects, growth and cognitive retardation, and gastrointestinal abnormalities. The features of this disorder vary widely among affected individuals and range from relatively mild to severe. Early in life, the distinctive craniofacial features in mild de Lange syndrome may be indistinguishable from the severe (classical) phenotype. We present here a case of newborn with CdLs.

Breastfeeding practices in Duzce, Turkey.

Exclusive breastfeeding among infants less than or equal to 6 months old and continued breastfeeding (20-23 months) are high-priority indicators of infant health. We aimed to assess breastfeeding practices, using standardized breastfeeding indicators, and to determine the causes of early discontinuation of breastfeeding (< or = 6 months) in children aged 0 to 24 months in Duzce, Turkey. In this cross-sectional study, the study group consisted of 158 children, and questionnaires were completed by face-to-face interviews with the mothers. The rate of exclusive breastfeeding (< or = 6 months) was 22.4%. The rate of continued breastfeeding (20-23 months) was 10.0%. The 2 primary causes of early discontinuation of breastfeeding were inadequate milk supply (38.1%) and baby not latching on (14.3%). Half of the individuals who recommended infant formula to mothers with infants less than or equal to 6 months old were physicians.

Do baby wet wipes change periurethral aerobic flora?

There is massive enteric bacterial colonization in the periurethral region during infancy. Fecal soiling is considered to be responsible for this colonization. We hypothesized that baby wet wipes containing chemical cleansing compounds, which are used for the cleaning of babies after diaper soiling, could be a contributing factor in this colonization. Thus, the effect on periurethral flora of two different methods of baby cleaning was compared. Periurethral culture samples were obtained from 173 infants who were cleaned with baby wet wipes (Group A, n = 96) or water and napkins (Group B, n = 77) after diaper soiling. The colonization of uropathogens and the presence of flora were analyzed. The results of the periurethral cultures were similar in both groups. The rates of uropathogen colonization only, uropathogen and skin flora colonization, and skin flora only or no growth in Groups A and B were 18.7, 61.5, and 19.8%, and 14.3, 66.2, and 19.5, respectively. The differences between the groups were statistically insignificant (P > 0.05); however, there was no significant difference in the frequency of uropathogen isolation between males and females. We therefore concluded that baby wet wipes are as safe as water for the cleaning of babies after diaper soiling.

Assessment of magnesium status in newly diagnosed diabetic children: measurement of erythrocyte magnesium level and magnesium tolerance testing.

The aim of this study was to investigate the relationship between serum, erythrocyte and urine magnesium levels and retained magnesium percentage in newly diagnosed diabetic children. In a cross-sectional study, 34 children with insulin dependent diabetes mellitus (IDDM) and 21 healthy age- and sex-matched control subjects were screened for their serum, erythrocyte, and urine magnesium levels. Magnesium tolerance test was performed on diabetic and control subjects. Serum and erythrocyte magnesium levels in diabetic children were significantly lower than in healthy controls (plasma magnesium, p<0.05; erythrocyte magnesium, p<0.001); however, serum magnesium level was in normal range in diabetics and controls. Erythrocyte magnesium levels in diabetic children showed an inverse correlation with percentage of retained magnesium load (r=-0.44, p<0.01). Urine magnesium excretion in diabetic children (7.12 +/- 2.18 mmol/g creatinine/24-hr) was significantly higher than in healthy controls (4.0 +/- 1.35 mmol/g creatinine/24-hr) (p<0.001). There was a negative correlation between erythrocyte magnesium (2.07 +/- 0.62 mmol/L) and urine magnesium (7.12 +/- 2.18 mmol/g creatinine/24-hr) (r=-0.68 p<0.01) in diabetic children. Magnesium tolerance test showed that percentage of retained magnesium in diabetic children (66 +/- 26%) was significantly higher than in controls (16 +/- 7%) (p<0.001). This study is the first study to simultaneously investigate serum, erythrocyte and urine magnesium levels and magnesium tolerance test in newly diagnosed diabetic children. In conclusion, erythrocyte magnesium levels decrease earlier than serum magnesium in diabetic children. The follow-up parameters in diabetics may include the policy of monitoring magnesium status. Erythrocyte magnesium measurement is preferred to serum magnesium. Magnesium tolerance test is a reliable and sensitive method, which may be used as an alternative to erythrocyte magnesium measurement or in combination with it in hospitalized diabetic children.

Subacute sclerosing panencephalitis (SSPE) associated with congenital measles infection.

A 13-month-old male presented with repetitive episodes of myoclonic jerks of the head and extremities for two months. His past medical history revealed that his non-immunized mother had measles at the time of delivery. Measles antibody titers in serum and cerebrospinal fluid (CSF) were 1/512 (hemagglutinin inhibition [HI]) and 1/128 HI, respectively. Immunofixation electrophoresis of CSF revealed an oligoclonal IgG band. The magnetic resonance imaging (MRI) of the brain on T2-weighted images showed lesions of high signal intensity in the subcortical white matter. Electroencephalography (EEG) revealed periodic high-amplitude slow waves. Diagnosis of subacute sclerosing panencephalitis (SSPE) was based upon clinical presentation, a characteristic EEG, and abnormal CSF studies. MRI findings supported the diagnosis. To the best of our knowledge, this is only the 3rd case to date, of SSPE-associated congenital measles in the literature.

[BCG vaccination: where are we now?]. / BCG asilamasinda neredeyiz?

The bacillus Calmette-Guerin (BCG) vaccine is administered and recommended for the prevention and control of tuberculosis in developing countries with high-risk settings. A new general BCG vaccination programme against tuberculosis has been introduced since 1997 in Turkey. The aim of this study was to evaluate the BCG vaccination status in Düzce and to analyze contributing factors for the vaccination programme. BCG screening were performed in 1100 8th class students from nine primary schools of Düzce city centre and seven counties. BCG scar presence was taken as authoritative for vaccination status. BCG vaccination ratio was 0.94. Of 1100 students, 1030 had BCG scars; 478 had single scar, 536 had two scars and 16 had three scars. The significant negative correlation was observed between the BCG administration ratio and the number of children under age of 15 per health personnel (r= -0.771, p= 0.025). Furthermore, based on some published studies marked regional variation of BCG vaccination status in Turkey was also discussed in this article.

Varicella complicated by scarlet fever.

We report a 3-year-old boy with varicella complicated by cellulitis and scarlet fever. He developed a typical rash of scarlet fever following the onset of varicella. Streptococcus pyogenes was isolated from the ulcers due to varicella. The present case suggests that scarlet fever may rarely develop following varicella and should be considered in children with complicated varicella.

Sensitivity of iodine deficiency indicators and iodine status in Turkey.

BACKGROUND: Iodine deficiency is a major health problem worldwide. Goiter prevalence and the median urinary iodine concentration in a population usually define endemic iodine deficiency. In addition to goiter prevalence and median urinary concentration, thyroid stimulating hormone (TSH) and thyroxine have been used as iodine deficiency indicators. OBJECTIVE: To evaluate endemic goiter prevalence in Western Anatolia, Turkey, and to evaluate the sensitivity of thyroglobulin and height percentile as iodine deficiency indicators. SUBJECTS: We examined 727 school-children (378 girls, 349 boys) in two cities (Bolu and Düzce) and six mountainous rural areas, in West Anatolia. Of the 727 children, 234 were from four urban schools, and 493 were from eight rural schools. METHODS: Clinical examination and ultrasonography were used to evaluate goiter prevalence. Iodine in spot urine, serum total thyroxine (T4), serum free thyroxine (FT4), thyroid stimulating hormone (TSH), and thyroglobulin (Tg) were measured. Iodine deficiency severity was classified based on thyroid volume measurements by ultrasonography and urinary iodine excretion. RESULTS: The degree of iodine deficiency according to concentration of urinary iodine was severe in 276 children (38%), moderate in 151 (20.8%), mild in 114 (15.7%), and within normal levels in 186 (25.4%). Although urban areas showed normal or mild urinary iodine excretion, four rural areas showed from mild to severe iodine deficiency (p < 0.001). Thyroid volumes of the severe iodine deficiency group were significantly higher than those of moderate and mild iodine deficiency groups (p < 0.001). There was no significant difference between thyroid volumes in moderate and mild iodine deficiency groups. FT4 levels of the severe iodine deficiency group were significantly lower than in moderate and mild iodine deficiency groups (p < 0.001). There was no significant correlation between TSH and iodine excretion (r = 0.01, p > 0.05). Thyroglobulin (Tg) levels were significantly different between all groups (p < 0.001). There was a significant negative correlation between Tg and urinary iodine excretion (r = -0.27, p < 0.001). CONCLUSIONS: Severe and moderate iodine deficiency areas are more prevalent in Turkey than mild and normal iodine concentration areas. In addition to urinary iodine concentration and thyroid volume, height percentile and Tg are also sensitive markers for endemic iodine deficiency. TSH screening should be performed nationwide in Turkey. We recommend compulsory iodination of table and industrial salt.

A new mutation of the fukutin gene in a non-Japanese patient.

Fukuyama-type congenital muscular dystrophy (FCMD), Walker-Warburg syndrome, and muscle-eye-brain disease are clinically similar autosomal recessive disorders characterized by congenital muscular dystrophy, cobblestone lissencephaly, and eye anomalies. FCMD is frequent in Japan, but no FCMD patient with confirmed fukutin gene mutations has been identified in a non-Japanese population. Here, we describe a Turkish CMD patient with severe brain and eye anomalies. Sequence analysis of the patient's DNA identified a homozygous 1bp insertion mutation in exon 5 of the fukutin gene. To our knowledge, this is the first case worldwide in which a fukutin mutation has been found outside the Japanese population. This report emphasizes the importance of considering fukutin mutations for diagnostic purposes outside of Japan.