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.

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.

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.

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.

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.

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.

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.

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.

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.

Celiac disease and Turner's syndrome: patient report.

Turner's syndrome is a chromosomal disease frequently associated with autoimmune disorders including thyroid disease, inflammatory bowel disease, diabetes mellitus and juvenile rheumatoid arthritis. Recent reports have described an association of celiac disease with Turner's syndrome. We present an additional patient with Turner's syndrome associated with celiac disease. A girl aged 15- 7/12 yr was seen for the complaints of delayed growth and puberty, abdominal pain and chronic diarrhea. She was diagnosed as having celiac disease and a gluten-free diet was initiated. Despite one year of strict diet no signs of puberty were observed. She was then evaluated again for absence of puberty, and 45,XO karyotype Turner's syndrome was diagnosed.

Helicobacter pylori infection in children with insulin dependent diabetes mellitus.

To assess the seroprevalence of Helicobacter pylori (HP) in children with insulin dependent diabetes mellitus, a serological test for Helicobacter pylori (anti-HP IgG with ELISA) was performed in 88 diabetic and 42 healthy control children. Anti-HP IgG was positive in 49/88 (55.6%) of diabetics and 13/42 (30.9%) of controls (p<0.01). Diabetic children were divided into two groups according to HP status: HP(+) and HP(-). The two groups were compared for age, gender, duration of diabetes, diabetic control (HbA1c), SDS for height and gastric emptying time. Seroprevalence of HP was higher in IDDM patients than in healthy controls. Duration of diabetes was the only factor which correlated significantly with HP status. HP status was not related to gastric emptying time.

Collodion baby concomitant with congenital hypothyroidism: a patient report and review of the literature.

Collodion baby is a rare congenital disorder resembling harlequin fetus but is milder in degree. Although it has been reported that harlequin fetus is associated with kidney abnormalities, malignant keratoma, micromelia, polydactyly, thymic atrophy and thyroid aplasia, there are few reports of collodion baby associated with congenital abnormality and/or disease in the literature. A newborn infant admitted with shedding of the skin and diagnosed as collodion baby concomitant with congenital hypothyroidism is presented here. This is the first case of collodion baby associated with congenital hypothyroidism in the literature to our knowledge.

Persistent neonatal hypoglycemia: an unusual finding of congenital hypothyroidism.

We report a newborn infant who has congenital hypothyroidism associated with profound and persistent neonatal hypoglycemia. Persistent and marked hypoglycemia has not been previously reported in congenital hypothyroidism to our knowledge. The cause of this condition may be reduced glyconeogenesis or insulin clearance.

Gliclazide-induced hepatitis, hemiplegia and dysphasia in a suicide attempt.

The drugs used to treat diabetes mellitus are diverse and include several classes. One class is sulfonylureas which primarily cause serum glucose reduction by stimulating the release of preformed insulin from the pancreatic islets. Gliclazide, a second generation sulfonylurea, is used to control glycemic levels in non-insulin-dependent diabetes mellitus. We report a 14 year-old non-diabetic girl who developed hepatitis, hemiplegia and dysphasia after ingestion of an overdose of gliclazide (20 mg/kg/day) in a suicide attempt. Our purpose is to draw attention to the severity of gliclazide-induced neurological signs. To the best of our knowledge, gliclazide-induced hemiplegia and dysphasia have not been previously reported in the literature.

Asymmetric crying facies and congenital hypothyroidism: report of two patients.

A congenital asymmetric crying facies (ACT) is caused by congenital hypoplasia or agenesis of the depressor anguli oris muscle. Associations of this facial defect with major congenital anomalies have been reported, most commonly in the cardiovascular system and less frequently involving the genitourinary, musculoskeletal, cervicofacial, respiratory, and rarely, the endocrine system. It is also well known that congenital hypothyroidism may be associated with other congenital malformations, especially with cardiac defects. Two newborn infants who had ACF associated with congenital heart defect and congenital hypothyroidism are described. To the best of our knowledge the association of ACF and congenital hypothyroidism has not previously been published.