An evaluation of ursodeoxycholic acid treatment in prolonged unconjugated hyperbilirubinemia due to breast milk.

Background/Aim: Prolonged jaundice is one of the most common problems during neonatal period. The aim of this study was to evaluate the efficiency of ursodeoxycholic acid (UDCA) treatment in newborn infants with prolonged unconjugated hyperbilirubinemia. Materials and Methods: The present study included 27 patients who were fed by breast milk and followed up in the outpatient clinic due to prolonged jaundice without any underlying etiological factor; 10 mg/kg/day UDCA was administrated in two doses for 7 days. Furthermore, 20 newborns diagnosed with prolonged jaundice with same characteristics were enrolled as the control group. The control group was also given a placebo; demographic characteristics, liver functions tests before and after the treatment, bilirubin decrease rates, and hemogram parameters of groups were compared. Results: Total bilirubin levels in the study and control groups before the treatment were 16.02 ± 1.41 mg/dL and 15.93 ± 1.66 mg/dL, respectively (P = 0.84). Total bilirubin levels in the study and control groups at day 7 after UDCA treatment were detected 8.18 ± 2.31 mg/dL and 13.92 ± 2.66 mg/dL, respectively (P < 0.001), and at day 14 after the treatment were 5.45 ± 2.59 mg/dL and 11.91 ± 2.83 mg/dL, respectively (P < 0.001). Furthermore, serum aspartate aminotransferase (AST) was detected <21 U/L in the ROC analysis after UDCA treatment (P = 0.04). Conclusion: The study outcomes indicated that an efficient reduction in total bilirubin levels may be achieved, and outpatient clinic follow-up period may be reduced in patients whom UDCA was administrated. Moreover, it may be speculated that AST can be used to evaluate the efficacy after treatment. However, studies with larger sample sizes are needed for the routine use of UDCA in the treatment of prolonged jaundice.

Does meal-time insulin dosing based on fat-protein counting give positive results in postprandial glycaemic profile after a high protein-fat meal in adolescents with type 1 diabetes: a randomised controlled trial.

BACKGROUND: The present study investigated the effects of fat-protein (CFP) counting in addition to carbohydrate (CARB) counting for calculating prandial insulin dosage on blood glucose profile in patients with type 1 diabetes (T1D) on basal-bolus insulin therapy. METHODS: In this single centre, cross-over, randomised, controlled study, control meal (SM: standard meal using a carbohydrate counting method) and three test meals (HPM: high protein meal using a carbohydrate counting method; HPFM-a: high protein-fat meal using a carbohydrate counting method; HPFM-b: high protein-fat meal using a carbohydrate and fat-protein counting method) were compared on postprandial early (0-120 min), late (120-240 min) and total (0-240 min) glucose response in 30 patients with T1D, aged 16-18 years. RESULTS: The glucose levels of 0-90 min did not change after different meal consumptions (P > 0.05), whereas 120-240 min glucose levels were higher after HPFM-a consumption compared to HPFM-b consumption (P < 0.05). There were no significant differences between meals with respect to the early postprandial glucose response (0-120 min) (P = 0.405). In late response (120-240 min), HPFM-b [area under the curve (AUC) = 20 609 (582) mg dL-1  × dk] was significantly lower than SM [AUC = 24 092 (9015) mg dL-1  × dk], HPM [AUC = 24 072 (5853) mg dL-1  × dk] and HPFM-a [AUC = 25 986 (6979) mg dL-1  × dk] (P = 0.032). CONCLUSIONS: Meal-related insulin dosing based on carbohydrate plus fat/protein counting has given positive results in the postprandial glycaemic profile as a result of lower postprandial glycaemic levels compared to conventional carbohydrate counting in patients with T1D after a high protein-fat meal.

Growth hormone insensitivity: diagnostic and therapeutic approaches.

INTRODUCTION: Growth hormone resistance defines several genetic (primary) and acquired (secondary) pathologies that result in completely or partially interrupted activity of growth hormone. An archetypal disease of this group is the Laron-type dwarfism caused by mutations in growth hormone receptors. The diagnosis is based on high basal levels of growth hormone, low insulin like growth factor-I (IGF-1) level, unresponsiveness to IGF generation test and genetic testing. Recombinant IGF-1 preparations are used in the treatment CONCLUSION: In this article, clinical characteristics, diagnosis and therapeutic approaches of the genetic and other diseases leading to growth hormone insensitivity are reviewed.

Neonatal hemochromatosis in monochorionic twins.

Neonatal hemochromatosis (NH) is a form of neonatal liver failure caused by maternal-fetal alloimmune injury to hepatocytes. The etiology of neonatal hemochromatosis is not exactly understood. However, according to one theory neonatal hemochromatosis is believed to be an alloimmune disorder causing liver injury in the fetus. In order to diagnose neonatal hemochromatosis there are some criteria that should be taken into account, such as positive family history, high serum ferritin levels, high serum alpha-fetoprotein levels and siderosis demonstrated by histology or with magnetic resonance.We present a case of a monochorionic newborn twin who applied to our hospital with sepsis clinical symptoms like clinics, was diagnosed with NH and immediately treated with antioxidant therapy while the other twin with same clinical symptoms did not respond to therapy and passed away. NH should be considered in the differential diagnosis of cases with sepsis-like clinical symptoms that do not respond to antibiotics; early antioxidant therapy in these cases is lifesaving.

A unique case of a patient with partial trisomy 22 and lipodystrophy: is it a new syndrome due to an IGF-IR mutation?

A newborn male presented with intestinal malrotation, facial anomalies, hypertrichosis, hypertrophic, hyperpigmented nipples and enlarged genitals with a hyperpigmented scrotum. In addition, the patient displayed a marked lipodystrophy of trunk and limbs. His karyotype demonstrated a small supernumerary NOR-positive marker chromosome that was subsequently identified as del(22)(q12->qter). This extra structurally abnormal chromosome probably derives from a maternal balanced translocation, which was found by karyotype analysis of the mother. The patient's growth hormone (GH) serum levels were elevated, whereas serum insulin-like growth factor 1 (IGF-I) was almost undetectable. Molecular genetic analysis of the IGF-I and type 1 IGF receptor (IGF-IR) genes revealed a heterozygous mutation within exon 21 of the IGF-IR (Pro1257Ser). Findings in our patient correlate to a large extent with partial trisomy 22. Phenotypic variation from classical partial trisomy 22 syndrome may lie within the variability of this syndrome, originate from disturbances within the GH-IGF/IGF-IR axis or, alternatively, reflect the pathogenesis of a new syndrome due to the synergistical impact of the combination of the genetic aberrations. Additional studies are necessary to confirm or refute this hypothesis.

Cyanide poisoning caused by ingestion of apricot seeds.

AIM: To report diagnostic, clinical and therapeutic aspects of cyanide intoxication resulting from ingestion of cyanogenic glucoside-containing apricot seeds. METHODS: Thirteen patients admitted to the Pediatric Intensive Care Unit (PICU) of Erciyes University between 2005 and 2009 with cyanide intoxication associated with ingestion of apricot seeds were reviewed retrospectively. RESULTS: Of the 13 patients, four were male. The mean time of onset of symptoms was 60 minutes (range 20 minutes to 3 hours). On admission, all patients underwent gastric lavage and received activated charcoal. In addition to signs of mild poisoning related to cyanide intoxication, there was severe intoxication requiring mechanical ventilation (in four cases), hypotension (in two), coma (in two) and convulsions (in one). Metabolic acidosis (lactic acidosis) was detected in nine patients and these were treated with sodium bicarbonate. Hyperglycaemia occurred in nine patients and blood glucose levels normalised spontaneously in six but three required insulin therapy for 3-6 hours. Six patients received antidote treatment: high-dose hydroxocobalamin in four and two were treated with a cyanide antidote kit in addition to high-dose hydroxocobalamin. One patient required anticonvulsive therapy. All patients recovered and were discharged from the PICU within a mean (SD, range) 3.1 (1.7, 2-6) days. CONCLUSION: Cyanide poisoning associated with ingestion of apricot seeds is an important poison in children, many of whom require intensive care.

Organophosphate intoxication presenting as diabetic keto-acidosis.

Organophosphate (OP) poisoning is common in developing countries. The presenting symptoms and signs of OP intoxication are multiple and may cause difficulty in differential diagnosis, especially in children. A case of OP intoxication is reported who presented as diabetic keto-acidosis.

The prevalence of iodine deficiency, serum thyroglobulin, anti-thyroglobulin and thyroid peroxidase antibody levels in the urban areas of Kayseri, Central Anatolia.

BACKGROUND: The prevalence of goitre and urinary iodine excretion (UIE) indicate endemic iodine deficiency (ID) in a population. Previous studies have shown that Kayseri is one of the most iodine-deficient areas in Turkey. The aim of this study was to determine the prevalence of goitre, evaluate the degree of ID, its effects on thyroid functions and volume of subjects living in wide outer skirts of the old volcano Erciyes, at 1655 m and 1350 m altitudes. METHODS: UIE was determined in 209 school-age children (SAC) aged between 10 and 14 years and in 183 adults. Thyroid volume (TV) of subjects was performed used by both palpation and ultrasonography (USG). In addition, serum free tri-iodothyronine (fT3), free thyroxine (fT4), thyroid stimulating hormone (TSH), thyroglobulin (Tg), anti-Tg and anti thyroid peroxidase (TPO) antibody levels were measured. RESULTS: The prevalence of goitre according to palpation and USG among SAC was found as 50.7 and 58.4% respectively, as 65.0 and 57.9% among adults. Although mean UIC of whole subjects was 30+/-34 microg/l indicated moderate iodine (I) deficiency, 55.4% of the subjects' UIE was <20 microg/l. While the serum fT3, TSH, anti-TPO, Tg levels, body mass index (BMI), TV of SAC and adults (except BMI) with goitre were higher than those of without goitre, serum fT4 and UIE were lower than those of without goitre. CONCLUSIONS: The population living in two areas was exposed to consequences of severe and moderate ID and also endemic goitre due to geographical characteristics of the area. A plan of action including sufficient I intake of people should be planned and be implemented effectively.

The relationship between sleep duration and obesity in Turkish children and adolescents.

AIM: To determine the relationship between sleep duration and obesity in Turkish children and adolescents. METHODS: This study was conducted in Turkey with 5358 children aged 6 to 17 years. Height, weight, waist circumference (WC), mid-upper arm circumference (MUAC), triceps skinfold thickness were measured. Body mass index (BMI), arm fat area were calculated. Self-reported sleep duration by parents were obtained. RESULTS: As sleep duration increased, BMI, which was significantly higher in girls sleeping < or =8 h, decreased (p < 0.05). WC, MUAC, BMI were significantly higher in boys sleeping < or =8 h versus males sleeping > or =10 h. Boys sleeping < or =10 h in 6.0-17.0-years had significantly higher risk of overweight/obesity. In 6.0 to 17.0 years, the risk of overweight/obesity in boys sleeping 9-10 h, 8-9 h and < or =8 h were 1.86-, 1.74- and 2.06-times higher respectively, versus children sleeping > or =10 h (p < 0.05). CONCLUSION: Sleep duration may be an important factor for obesity and providing > or =10 h of sleep is recommended as a prevention strategy for obesity.

Achondroplasia associated with gonadal dysgenesis.

A 45-year-old woman with short stature and primary amenorrhoea was admitted during a health-screening programme. Physical examination revealed a shortness of proximal legs and arms, short stature and other clinical properties of achondroplasia. Secondary sexual characteristics assessment showed axillary hair stage 5, breast stage 4 and pubic hair stage 5 (Tanner staging). Chromosomal analysis showed a 46XX karyotype. Skeletal X-ray showed small iliac wings and narrow sciatic notches. On pelvic ultrasound examination, the uterus appeared infantile and the ovaries were not visualized. Physical examination and laboratory parameters revealed a diagnosis of hypergonadotrophic hypogonadism. To the authors' knowledge, this is the first case of achondroplasia with gonadal dysgenesis discussed in the literature.

Assessment of abnormal glucose homeostasis and insulin resistance in Turkish obese children and adolescents.

BACKGROUND: The worldwide increase in the prevalence of childhood obesity is reaching epidemic proportions and is associated with a dramatic rise in cases of type 2 diabetes. We determined the prevalence of impaired glucose regulation and insulin resistance in obese children and adolescents. METHODS: A total of 196 obese children [SD score (SDS) of body mass index (BMI): 2.17 +/- 0.03], aged 7-18 years, including 86 male subjects, underwent an oral glucose tolerance test (1.75 g glucose/kg body weight). We used the modified WHO criteria adapted for children for abnormal glucose homeostasis. Homeostasis model assessment was used to estimate insulin resistance in all subjects. The insulin sensitivity index was also determined in subjects. RESULTS: Of the total of 196 obese children, 15 (6.6%) had an abnormal fasting glucose level. Of the 196 obese children, 35 (18%) had impaired glucose tolerance (IGT) and 83 (43%) had insulin resistance. Of the 196 obese children were six (3%) diagnosed with type 2 diabetes. Insulin resistance indices were correlated well with the degree of abnormal glucose tolerance. CONCLUSIONS: IGT, insulin resistance and type 2 diabetes are far more common in obese Turkish children than previously thought. Early treatment in obese children and adolescents with IGT constitutes a strategy of reversing the progression to beta-cell failure and preventing type 2 diabetes.

Iodine deficiency: an important and severe public health problem in Kayseri, Central Anatolia.

Iodine deficiency (ID) remains a significant global public health problem. The iodine status of rural areas of Kayseri Province, Central Anatolia was previously evaluated but a screening survey covering both rural and urban populations had not been conducted. The aims of this study were: a) to determine the nutritional iodine status by calculating urinary iodine excretion (UIE) of the school-children living in the districts, city centre and villages of Kayseri Province; b) to implement preventive measures. The study group was made up of 1,784 school-children (920, 51.6% females; 864, 48.4% males), aged between 7 and 12 yr. Height and weight of children were measured and urine samples were collected. The median UIE of all school-children was 25.5+/-17.2 microg/l. Iodine status of the population was gauged based on median urinary iodine values categorised as normal (> or =100 microg/l), mild (50- 99 microg/l), moderate (20-49 microg/l) and severe (<20 microg/l) ID and classified according to age, gender and body mass index (BMI). While UIE of 289 school-children (16.2%) was in normal range (> or =100 microg/l), 747 of school-children (41.9%) had UIE <20 microg/l. Although there was no significant difference in UIE of female children based on their BMI (p>0.05), in overweight and obese male children UIE was significantly higher than in normal or underweight children (p<0.001). In Kayseri, moderate and almost severe ID affects public health from intrauterine to advanced stages of life. This is due to geographical characteristics of this area causing insufficient amounts of iodine in the drinking water and traditional nutritional habits of the families. The local "Iodine Monitoring Committee" developed an action plan including information/education/ communication activities to sustain monitoring so as to increase the inclusion of iodized salt in the region.

The association of serum total sialic acid/total protein ratio with diabetic parameters in young type 1 diabetic patients.

Sialic acid is a terminal component of the non-reducing end of carbohydrate chains of glycoproteins and glycolipids. The purpose of this study was to estimate serum total sialic acid (TSA) concentrations and serum TSA/serum total protein (TP) ratios in young type 1 diabetic subjects and to investigate their association with diabetes-related parameters in that population. Twentyfour young type 1 diabetic patients and 20 healthy controls were enrolled in this study. Serum TSA and serum TSA/TP ratio were measured in both groups. Moreover, we looked for correlation among serum TSA, serum TSA/TP ratio and clinically relevant parameters such as urinary albumin excretion, blood pressure, diabetes duration, HbA1c, daily insulin dose, serum lipids and magnesium in type 1 diabetic patients. Serum TSA concentrations and serum TSA/TP ratio showed no statistical difference between patients and controls (p>0.05). While serum TSA concentrations only correlated with urinary albumin excretion (r=0.44, p=0.028), serum TSA/TP ratio correlated with diastolic blood pressure (r=0.48, p=0.015), diabetes duration (r=0.46, p=0.022) and urinary albumin excretion (r=0.53, p=0.007) in the diabetic subjects. We concluded that serum TSA/TP ratio might be a better indicator than serum TSA as an index of diabetic complications.

Evidence for an association between type 1 diabetes and premature carotid atherosclerosis in childhood.

Acute phase proteins have been suggested to be increased in patients with type 1 diabetes. The aim of this study was to evaluate the relationship between serum C-reactive protein (CRP) and intima-media thickness (IMT) and functions of the common carotid artery (CCA) in children and adolescents with type 1 diabetes. Serum CRP levels were measured in 65 children and adolescents with diabetes (33 girls and 32 boys; mean age, 12.7 +/- 3.8 years; range, 7-18; duration of diabetes, 6.9 +/- 3.6 years). Age and diabetes duration, as well as major cardiovascular risk factors including anthropometric and metabolic parameters, were matched between girls and boys. The relations of serum CRP levels to CCA structure and functions were measured by ultrasonography as IMT, cross-sectional compliance, cross-sectional distensibility, diastolic wall stress (DWS), and incremental elastic modulus (IEM). There was no significant difference for serum CRP levels between girls and boys (3.7 +/- 1.3 vs 3.2 +/- 0.4 mg/L; p > 0.05). CRP was positively correlated with IMT (r = 0.49, p = 0.001), IEM (r = 0.24, p = 0.05), DWS (r = 0.58, p < 0.001), and body mass index (BMI) (r = 0.28, p = 0.05). In a multivariate regression model, we included CRP and metabolic and anthropometric parameters such as duration of diabetes, HbA1c, BMI, waist:hip ratio, age, and systolic and diastolic blood pressure as independent variables in the model for CCA structure and functions. CRP emerged as an independent correlation for mean IMT (beta = 0.51, p < 0.001) and DWS (beta = 0.61, p < 0.001). According to our findings, CRP was associated with CCA structure and functions in children and adolescents with type 1 diabetes.

Neonatal hypertrichosis in an infant of a diabetic mother with congenital hypothyroidism.

Hypertrichosis in a newborn girl infant of a diabetic mother with congenital hypothyroidism is reported. Both neonatal hyperinsulism and increased testosterone levels were documented. The hypertrichosis resolved after 3 months' of thyroxine replacement treatment. The possible causal association between hypothyroidism, and hypertrichosis has not been previously reported in neonatal period. Thyroid function should be evaluated in all newborn babies with hypertrichosis or abnormal distribution of body hair.

Relation of serum leptin and insulin-like growth factor-1 levels to intima-media thickness and functions of common carotid artery in children and adolescents with type 1 diabetes.

BACKGROUND AND AIM: Leptin and insulin-like growth factor-1 (IGF-1) have been suggested to be involved in the pathogenesis of atherosclerosis. The aim of this study was to evaluate the relationship between serum leptin, IGF-1 and intima-media thickness (IMT) and functions of common carotid artery (CCA) in children and adolescent patients with type 1 diabetes. MATERIAL AND METHODS: Serum leptin and IGF-1 levels were measured in 45 diabetic patients (23 girls and 22 boys). Age, diabetes duration as well as major cardiovascular risk factors, including anthropometric and metabolic parameters, were matched between girls and boys. The relation of serum leptin and IGF-1 levels to CCA structure and functions were measured by ultrasonography as IMT, cross-sectional compliance (CSC), cross-sectional distensibility (CSD), diastolic wall stress (DWS) and incremental elastic modulus (IEM). RESULTS: Serum leptin levels of diabetic girls were higher than those in the boys (21.8 +/- 14.5 microg/l vs 8.9 +/- 10.6 micro/l, p = 0.002). However, the difference for serum IGF-I levels was not significant between diabetic girls and boys (240.7 +/- 96.8 ng/ml vs 234.7 +/- 93.2 ng/ml; p > 0.05). In all subjects, leptin levels were correlated with CSC (p = 0.04), CSD (p = 0.04) and IEM (p = 0.01), and IGF-1 levels were only correlated with CSC (p = 0.01). Leptin did not show any correlation with ultrasonographic measurements in both girls and boys separately. IGF-1 was correlated with CSC (p = 0.001), CSD (p = 0.002) and IEM (p < 0.001) in boys but not in girls. In a multivariate regression model, IGF-1 emerged as independent correlates for mean CSD and IEM in boys but not in girls. CONCLUSION: Serum leptin and IGF-1 levels in children and adolescent patients with type 1 diabetes are associated with functions of common carotid artery, and the association of IGF-1 levels is influenced by sex.

Do not overlook Weismann-Netter syndrome in differential diagnosis of skeletal dysplasias.

Weismann-Netter syndrome (WNS), a rare condition, is characterized by an anterior curvature of the bones of the lower limbs, usually bilateral and symmetrical. It was first described in 1954 by Weismann-Netter and Stuhl. We report a 2-year-old girl with typical findings of WNS who was misdiagnosed as having rickets. Our purpose is to draw attention to the WNS in the differential diagnosis of skeletal dysplasias. We think that the true incidence of WNS is probably higher than previously reported; therefore, we would like to emphasize that WNS should be considered in patients who have bowed lower extremities and have been diagnosed as having syphilis or healed rickets.