De Novo Subtelomeric 6p25.3 Deletion with Duplication of 6q23.3-q27: Genotype-Phenotype Correlation.

Duplications of 6q and deletions of 6p have been reported in more than 30 cases of live born infants and given rise to widespread abnormalities recognizable as a specific clinical syndrome. Different phenotypes have been described with variable clinical signs. Most cases involve the coexistence of unbalanced translocations affecting one or the other of the chromosomes. However, duplication of both chromosome 6q and deletion of 6p regions have been reported in only a few cases. Here, we report the first duplication of chromosome band 6q23.3-q27 with deletion of 6p25.3. This is the first case in the literature involving changes to these specific chromosomal regions; a medium size duplication of the distal long arm and smaller deletion of the terminal short arm of chromosome 6. In the literature, there are no other cases where these two specific chromosomal aberrations are observed together. Conventional chromosome analysis was performed to investigate the patient. Chromosome structure was identified using fluorescence in situ hybridization for subtelomeric regions of chromosome 6 and array comparative genomic hybridization analysis (array-CGH).

Seroprevalence of autoimmune thyroiditis and celiac disease in children with insulin-dependent diabetes mellitus in the Thrace region of Turkey.

BACKGROUND/AIMS: We aimed to estimate the seroprevalence of celiac disease, a gluten-sensitive enteropathy, and autoimmune thyroiditis in children with insulin-dependent diabetes mellitus in the Thrace region of Turkey. METHODS: The population studied consisted of 33 children with insulin-dependent diabetes mellitus and 41 healthy children with demographic features similar to the study subjects. Free triiodothyronine, free thyroxine, thyroid-stimulating hormone, anti-thyroid peroxidase antibody, anti-thyroglobulin antibody, IgA, anti-endomysium IgA, and anti-gliadin IgA were measured in all cases and controls. RESULTS: The serum levels of free triiodothyronine and free thyroxine were within the normal range in all cases. However, in one patient who had anti-thyroid peroxidase and antithyroglobulin antibodies, the thyroid-stimulating hormone level was high despite a normal free triiodothyronine and free thyroxine value. Ultrasonographic findings confirmed thyroiditis in this patient. Anti-thyroid peroxidase antibodies, anti-thyroglobulin antibodies, anti-endomysium IgA and anti-gliadin IgA were detected in 15.4%, 6%, 9.1% and 3% of the diabetic cases, respectively. None of these antibodies was detected in the control group. In the diabetic group, the seroprevalences of the antithyroid peroxidase antibodies and the anti-endomysium IgA were statistically higher than in the control group (p<0.05). CONCLUSIONS: Children with insulin-dependent diabetes mellitus in our region should undergo periodic screenings for autoimmune thyroiditis and celiac disease.

Comparison of temporal artery, mid-forehead skin and axillary temperature recordings in preterm infants <1500 g of birthweight.

AIM: Preterm infants are prone to temperature maintenance problems due to immature thermoregulatory mechanism and relatively large body surface area. The objective of the present study was to evaluate the performance of a new non-invasive infrared thermometer applied to the mid-forehead and temporal artery in comparison with axillary temperature recordings by mercury-in-glass thermometer, and to determine the discomfort caused by these procedures in preterm infants on incubator care. METHODS: The present comparative prospective study was composed of 34 preterm infants <1500 g of birthweight nursed in an incubator. Temperature recording from mid-forehead, temporal artery and axilla were recorded six times a day for 7 days since the end of the first week of life. For pain assessment, the premature infant pain profile (PIPP) was used. RESULTS: The mean mid-forehead, temporal artery and axillary temperatures were 36.72 +/- 0.08, 36.81 +/- 0.09 and 36.71 +/- 0.07 degrees C, respectively. No statistically significant difference was noted between the means of mid-forehead and axillary temperatures. The mean temporal artery temperature was statistically higher than the means of the mid-forehead and axillary temperatures. The PIPP scores of the mid-forehead, temporal artery and axillary temperature measurements were 5.07 +/- 0.36 degrees C, 5.18 +/- 0.43 degrees C and 7.59 +/- 0.84 degrees C, respectively. The mean PIPP score of axillary temperature measurements was statistically higher than the means of mid-forehead and temporal artery measurements. CONCLUSIONS: The infrared skin thermometer applied to the mid-forehead is a useful and valid device for easy and less painful measurement of skin temperature in preterm infants <1500 g of birthweight.

Transient leukoerythroblastosis in a very low birth weight infant with parvovirus B19 infection.

BACKGROUND: Leukoerythroblastosis is characterized by the presence of leukocytosis and erythroid and myeloid blast cells in the peripheral blood. The most common etiological factors of leukoerythroblastosis occurring during early childhood are viral infections, juvenile myelomonocytic leukemia, and osteopetrosis. To our knowledge, an association with parvovirus B19 infection has only been reported in a preterm infant. Human parvovirus B19 has been associated with red cell aplasia, leukopenia, and thrombocytopenia. CASE REPORT: The case of a very low birth weight preterm infant with transient leukoerythroblastosis associated with parvovirus B19 infection is described. CONCLUSIONS: Leukoerythroblastosis has to be kept in mind if a very high leukocyte count is detected in the neonatal period, and parvovirus B19 infection should be taken into consideration as the etiological factor for this entity.

Ochrobactrum anthropi bacteremia in a preterm infant with meconium peritonitis.

Ochrobactrum anthropi is a non-fermenting gram-negative rod that was identified as a pathogenic microorganism during the past decade. O. anthropi is extensively distributed in the environment, and has been found in hospital and environmental water sources. O. anthropi infection is rare in childhood. We report a case of O. anthropi bacteremia in a preterm infant with a peritoneal lavage catheter and meconium peritonitis.

Dietary intakes of adolescents living in Edirne, Turkey.

OBJECTIVE: To assess the dietary intakes of the adolescents in the area of Edirne, Turkey. DESIGN: Cross-sectional, prospective, epidemiological study. SETTINGS AND SUBJECTS: Our study group consists of 1944 adolescents aged between 12 to 17 years; 940 females and 1004 males. INTERVENTIONS: Three-day self-reported food records were collected from the subjects and evaluated by a nutrient database program. Reported nutrient intake data were analyzed for gender differences. Minitab statistical program was used to compare nutritional data of subjects. RESULTS: Energy, calcium, magnesium, folic acid, vitamins A, E, thiamine, and fiber intakes of whole adolescents, and also iron intakes of female adolescents were most likely to be inadequate compared with the recommendations. Iron, calcium, folic acid, thiamine, and fiber intakes were below two thirds of RDA/DRI in a large proportion of the adolescents. The intakes of protein, riboflavin, vitamin C, phosphorus and zinc were found to be adequate in a large percentage of the subjects. Forty eight percent of females and 60.1 % of males were below 2/3 of the RDA for energy. CONCLUSION: Pediatricians and dietitians should train the adolescents living in our region and our country on practical strategies for making healthy food choices rich in nutrient content relative to energy value to ensure intakes that approach the recommendations.

Proficiency and knowledge gained and retained by pediatric residents after neonatal resuscitation course.

BACKGROUND: In previous studies the efficacy of the Neonatal Resuscitation Program (NRP) was evaluated, demonstrating good retention of knowledge in the participants. The aim of the present study was to evaluate the knowledge and proficiency that pediatric residents gained and retained following NRP and to determine the necessity and timing of the refresher courses. METHODS: The study consisted of 42 pediatric residents who were divided into three groups. Group 1 included pediatric residents who attended the course 1 year previously (n = 18); group 2, 6 months previously (n = 12); and group 3 included those residents who had not attended the NRP previously (n = 12). A written test consisting of 100 questions was applied, and endotracheal intubation skill on a neonatal manikin was evaluated. RESULTS: The percentage of correct answers of participants in groups 1 and 2 decreased similarly during the 6 month and 1 year time period following previous courses. After the new NRP the correct answers increased significantly in groups 1 and 2. The duration of intubation attempt was 17.8 +/- 6.0 s in group 1, 17.5 +/- 1.5 s in group 2, and 22.3 +/- 2.6 s in group 3 before the course and decreased after the course to 10.9 +/- 2.0 s in group 1, 10.3 +/- 1.5 s in group 2, and 11.7 +/- 1.6 s in group 3. The knowledge missing after 6 months and 1 year were similar, while intubation skill decreased after 1 year following the course. CONCLUSIONS: Due to worsening of test findings at 6 months after NRP, and deterioration of performance of intubation 1 year after NRP, it is suggested that a refresher course may be required every year.

The impact of Neonatal Resuscitation Program courses on mortality and morbidity of newborn infants with perinatal asphyxia.

OBJECTIVE: Neonatal care provided within the first few minutes of life plays a major role in the reduction of neonatal morbidity and mortality. Neonatal Resuscitation Program (NRP) courses had been held since 1996. The aim of this study was to evaluate the impact of the NRP on morbidity and mortality of newborn infants with perinatal asphyxia. METHODS: This retrospective study comprised newborn infants who were born in hospitals at Trakya region of Turkey during the last 3 years and were diagnosed as perinatal asphyxia and were referred to our Neonatal Unit. Those patients who were referred before NRP course (pretraining period) were designated as Group 1, those who were referred after the first NRP course (transition period) as Group 2, and those who were referred after the second NRP course (post-training period) as Group 3. Chart review was performed with regard to gestational age, birth weight, Apgar scores, resuscitation type, stage of hypoxic ischemic encephalopathy (HIE), existence of meconium aspiration syndrome (MAS), progress of the disease, duration of hospitalization. RESULTS: The study comprised 66 patients; 35 in Group 1, 18 in Group 2 and 13 in Group 3. The number of cases who had not been resuscitated was 10 in the pretraining period, 3 in the transition period and 1 in the post-training period which decreased significantly. The first minute Apgar scores in three groups were as follows; 2.08+/-1.2, 2.2+/-1.1 and 3.7+/-1.4, and this increase was statistically significant. The fifth minute Apgar scores also increased from 5.43+/-1.5 in the pretraining period to 6.5+/-1.9 in the post-training period, but this increase was not statistically significant. The number of patients with Stage 1 and 2 HIE decreased more in Group 3 (n=11 in Stage 1 HIE, n=17 in Stage 2 HIE) compared to those in Group 1 (n=7 in Stage 1 HIE, n=5 in Stage 2 HIE) but the difference was not statistically significant. The duration of hospitalization decreased in post-training period (15.1+/-10.3 days in pretraining period, 12.0+/-8.9 days in transition period, 6.1+/-1.2 days in post-training period). CONCLUSIONS: After NRP courses, the number of patients with perinatal asphyxia and with no resuscitation and also the duration of hospitalization decreased significantly, whereas the first minute Apgar scores increased significantly.

Etiology of neonatal gastric perforations: review of 10 years' experience.

BACKGROUND: Neonatal gastric perforation (NGP) is a rare event and its etiology is still controversial. Although it has previously been described as spontaneous, recently some risk factors have been reported to be associated with the development of NGP including prematurity and nasal ventilation. The purpose of the present paper was to report and discuss etiology, clinical features, and outcome of the authors' NGP cases over a 10 year period. METHODS: Charts of five infants with NGP was reviewed in terms of gender, birthweight, gestational age, time of diagnosis, associated disease, site of perforation, type of surgery performed, and clinical outcome. RESULTS: There were three boys and two girls with a mean birthweight and gestational age of 1650 g and 32 weeks, respectively. Three of them were premature. Mean perforation time was day 10 postnatally. Three infants had associated problems including prematurity, respiratory distress syndrome type 1, necrotizing enterocolitis, mechanical ventilator support, and one of them had tracheaesophageal fistula. Mothers of two out of these three infants had chorioamnionitis. One full-term infant received dexamethasone because of brain edema. Only one patient had no associated problem. Perforation occurred in the lesser curvature in three infants and in the greater curvature in two infants. Mortality rate was 60%. CONCLUSIONS: Contrary to previous literature, and similar to recent publications, it was found that essentially low-birthweight infants with tracheaesophageal fistula or chorioamnionitis and full-term babies on steroid therapy may have a risk for NGP, suggesting that an infant with contributing factors should be monitored more carefully for the development of NGP.

Cranial MR venography findings of severe hypernatremic dehydration in association with cerebral venous thrombosis in the neonatal period.

Severe neonatal hypernatremia is an important electrolyte disorder that has serious effects on the central nervous system, including brain edema, intracranial hemorrhage, hemorrhagic infarct, and thrombosis. Cerebral venous thrombosis is relatively rare in severe neonatal hypernatremic dehydration. The English literature contains only a few reports of the cranial radiological findings in severe neonatal hypernatremia. The authors report cranial MR venography findings of a newborn infant with severe hypernatremic dehydration. To the best of their knowledge, this is the first such report in the English literature.

A premature infant with h-type tracheoesophageal fistula demonstrated by scintigraphic technique.

PURPOSE: Congenital tracheoesophageal fistula (TEF) without esophageal atresia is commonly known as "H" type. This is extremely rare in infants. The rarity of the condition, its nonspecific symptomatology, and limitations in its demonstration by contrast radiology and endoscopy contribute to delays between first presentation and confirmation of the diagnosis. Our aim was to demonstrate a congenital H-type tracheoesophageal fistula by using Tc-99m sulfur colloid scintigraphy. MATERIALS AND METHODS: A case report. RESULTS: A preterm female infant was born by cesarean section at 34 weeks gestation. After many attempts of feeding, she developed apnea, resolving spontaneously, peroral cyanosis, pallor, hypersalivation, and abdominal distension, even when she was being fed by an orogastric tube. With this complex symptomatology, she was suspected to have an H-type TEF. Because of prematurity and recurrent respiratory problems of the infant and the high risk of aspiration of contrast material during a cineradiographic procedure, and also because of the invasive nature of the endoscopic procedure as well as the requirement of general anesthesia, the diagnosis was made by using Tc-99m sulfur colloid scintigraphy and confirmed at operation. CONCLUSION: Demonstrating a congenital H-type tracheoesophageal fistula by using radionuclide imaging is an easily applicable technique.

The prevalence of folic acid deficiency among adolescent girls living in Edirne, Turkey.

PURPOSE: A high incidence of iron-deficiency is a common observation among adolescent girls, whereas only limited data are available regarding the folic acid status of this group. This study was designed to determine the prevalence of biochemical folic acid deficiency in a group of Turkish adolescent girls. METHODS: We surveyed the serum folic acid, complete blood count, and dietary folic acid intake of Turkish adolescent girls after using three-day self-reported food intakes in urban and rural areas of Edirne, Turkey. RESULTS: A sample population was composed of 704 adolescent girls; their serum folic acid levels were found to be adequate for 37.6% (> or = 6 ng/mL), marginal for 46% (3 to 5.9 ng/mL), and at deficient levels for 16.3% (< 3 ng/mL). Folic acid deficiencies were found in 20.1% (36 of 179) and 14.7 % (61 of 416) of adolescent girls from rural and urban areas, respectively. Self-reported three-day folic acid intakes were correlated with the corresponding blood values for this nutrient. In the logistic regression analysis, three factors emerged as significant independent predictors of folic acid deficiency: low income (odds ratio [OR]: 2.4, 95% confidence interval [CI]: 1.3-4.2, p < .001), low vitamin C (OR: 1.9, 95% CI: 1.1-3.5, p < .05), and folic acid intake (OR: 4.8, 95% CI: 2.8-8.1, p < .001). CONCLUSION: Data from the present study may indicate that serum folic acid is low in a group of Turkish adolescent girls. These low values appear to be associated with low income, and low dietary intakes of folic acid and vitamin C.

Visceral larva migrans presenting as acute abdomen in a child.

An unusual presentation of visceral larva migrans observed in a patient is reported. A 5-year-old boy suffering fever, abdominal pain, tenderness, and rigidity in the right lower and upper quadrant of the abdomen was operated on, with the false diagnosis of acute abdomen, and exploratory surgery was carried out. The pathological examination of the liver biopsy revealed eosinophil-rich necrotizing granulomatous inflammation with Toxocara spp larva. The diagnosis was also confirmed by serologic results. Clinicians should remember that toxocaral visceral larva migrans may rarely mimic an acute abdomen and cause unnecessary operations.

Rubella seroprevalence among Turkish adolescent girls living in Edirne, Turkey.

This study was designed to estimate the rubella seroprevalence in unvaccinated Turkish adolescent girls in urban and rural areas of Edirne, and to create preventive strategies for congenital rubella syndrome (CRS). The sample, representing 12- to 17-year-old adolescent girls, consisted of 1,600 subjects selected from school lists by systematic and random sampling, which was matched by age and urban-rural residency strata proportional to the corresponding distributions in the Edirne population. For each participant, a questionnaire was completed and rubella-specific IgG antibodies were measured. After analysis of samples, seropositivity prevalence, equivocal and seronegative samples of adolescent girls in Edirne were determined as 93.1%, 0.6% and 6.3%, respectively. Data from the present study may indicate that 6.9% of adolescent girls have considerable risk for rubella infection during pregnancy. Eliminating rubella and CRS in Turkey will require national health service efforts, including vaccination of all adolescents and all susceptible women of childbearing age.

Seroprevalance of Bordetella pertussis antibodies among healthy adolescent girls in Edirne.

OBJECTIVE: Immune response against pertussis can be induced by infection and/or vaccination and vaccine induced immunity is known to wane within the decade following vaccination. Our aim was to assess the pertussis immune response among adolescent girls in the province of Edirne in Turkey. In addition we determined the relationship between the immune response and age, residence, and vaccination status. MATERIAL AND METHODS: Serum samples were collected from 359 adolescent girls, 12 to 17 years old. The subjects were selected by systematic randomisation from school rosters and sampled by age and urban-rural residence strata proportional to the corresponding distributions in the Edirne population. Pertussis immunity was determined by an in-house quantitative ELISA method for anti-PT and anti-FHA antibodies. RESULTS: Protective levels of antibody (>10 EU/ml) for anti-pertussis toxin and anti-filamentous heamagglutinin were found in 95.3% and 97.2% of the overall study group respectively. In 12- to 14-year-olds protective levels were shown in 94.1% and 97.0%, in 15- to 17-year-olds in 97.5% and 97.5%, in rural areas in 96.7% and 97.5%, and in urban areas in 94.5% and 97.5%, respectively (p >0.05). CONCLUSION: The high percentages of protective levels of antibodies in our study population might be an indicator of previous infections, which are a threat to infants who have not completed primary immunisation. In this respect, adult immunisation should be considered.

Bilateral choanal atresia in premature monozygotic twins.

Bilateral congenital choanal atresia is a relatively rare anomaly of the upper airway, which may cause life-threatening respiratory emergency and require rapid diagnosis and treatment. This condition usually occurs sporadically, but has also been rarely described in siblings. We present monozygotic premature twin infants with identical findings of bilateral choanal atresia and no other associated anomalies. To our knowledge, this is the first report of such an occurrence.

The protective role of melatonin in experimental hypoxic brain damage.

BACKGROUND: It is known that oxygen-derived free radicals play an important role in the pathogenesis of brain injury. Melatonin is a powerful scavenger of the oxygen free radicals. In this study, the protective effect of melatonin against the damage inflicted by reactive oxygen species during brain hypoxia was investigated in newborn rats using biochemical parameters. METHODS: For biochemical analyses, the levels of lipid peroxidation product (malondialdehyde ([MDA]), levels of reduced glutathione (GSH) and the activities of superoxide dismutase (SOD) and catalase (CAT) were estimated. RESULTS: After the third day of brain hypoxia, the brain levels of MDA increased. Pretreatment of animals with melatonin abolished the rise in MDA induced by hypoxia. GSH concentration did not increase by pretreatment with melatonin. Additionally, the activities of two antioxidative enzymes (SOD and CAT) decreased after the experimental period with melatonin only preventing the change of CAT. The activity of SOD was not influenced by melatonin administration as expected. CONCLUSION: In this experimental study, exogenously administered melatonin effectively protected against brain injury by oxidative stress. This protective effect of melatonin may be due to its direct scavenger activity and activation of CAT. Thus, melatonin may potentially be useful in the treatment of neurodegenerative conditions that may involve free radical production, such as perinatal hypoxia.

Prevalence of underweight, overweight and obesity in Turkish adolescents.

BACKGROUND: The aim of this study was to determine underweight, overweight and obesity prevalence in a representative sample of adolescents living in urban and rural area of central Edirne, Turkey, and to compare the 95th percentile BMI curve to the curves of other countries. MATERIAL AND METHODS: Data concerning the height and weight of 989 adolescents, aged between 12 and 17 years were collected. The prevalence of underweight was defined as the percentage of adolescents below the 5th percentiles of the American adolescents' age and gender specific BMI; prevalence of overweight and obesity were based on the cut off points of the International Obesity Task Force values (excess of the 85th and 95th percentiles), respectively. RESULTS: This study demonstrated that the prevalence of underweight, overweight and obesity among adolescent girls was 11.1%, 10.6% and 2.1%, respectively, while it was 14.4%, 11.3% and 1.6% for adolescent boys. In the urban area the prevalence of underweight, overweight and obesity among adolescent girls was 10.0%, 10.3% and 2.1%, while it was 14.4%, 11.6% and 1.6% for boys, respectively. In the rural area; the prevalence of underweight, overweight and obesity among adolescent girls was 15.7%, 12.4% and 2.2%, while it was 14.5%, 9.6% and 1.2% for boys, respectively. DISCUSSION: Analyses of data collected during these studies support that adolescents living in the city of Edirne carry relatively lower further risk of overweight and obesity than adolescents in other countries do.