A de novo t (X;8)(p11.2;q24.3) demonstrating Cornelia de Lange syndrome phenotype.

Cornelia de Lange syndrome is a rare syndrome of hitherto unknown etiology. We present a 9-months old female patient with de novo t (X;8) (p11.2;q24.3) and Cornelia de Lange Syndrome phenotype. De novo t (X;8)(p11.2;q24.3) was not reported so far in Cornelia de Lange syndrome.

The factors affecting the relation between the menarcheal age of mother and daughter.

BACKGROUND: Menarche is one of the most important biologic signals in the life of a woman. Menarche is a biological variable which has a significant genotypic component in girls. In recent years, many studies reporting the earlier onset of menarche owing to the improvement of socio-economic conditions have been published. DESIGN: We asked some questions about menarche to 1017 female students studying in the high schools of Manisa region in order to determine the menarcheal age and the correlation of menarcheal age between the mothers and daughters in our region. RESULTS: The mean age at menarche for the girls was 12.82+/-1.07 years and for the mothers was 13.6+/-1.39 years. The mean menarcheal age of the mothers was higher than the mean menarcheal age of the girls (P<0.001). This difference persisted independent of the socio-economic status, nutritional state and physical activity of the girls. There was a significant correlation between the menarcheal age of the girls and their mothers (r=0.262, P<0.001). This correlation existed in all the girls with different socio-economic status, nutritional state and physical activity. However, this correlation disappeared in girls with body mass index (BMI)>25 (r=0.04, P=0.813). In girls with BMI<25, there was a correlation between the menarcheal age of the girls and mothers (r=0.282, P<0.001). CONCLUSION: These results suggest that the menarche occurs earlier in the daughters than their mothers. The correlation between the menarcheal age of the girls and their mothers persists under all circumstances except in obesity. The mother's menarcheal age is a good predictor of the daughter's menarcheal age in non-obese girls and the BMI is an important factor.

Effects of different socioeconomic conditions on menarche in Turkish female students.

PURPOSE: The aim of this study was to determine the age at menarche, the menarcheal features, and the association between menarcheal age and socioeconomic status in an urban area in Turkey. In addition, we tried to assess whether there is a relationship between age at menarche and body composition. METHODS: We asked some questions about menarche of 1017 female adolescent students in the high schools of Manisa region. Height and weight were measured. The body mass index (BMI; kg/m2) was used as an index of relative weight. Adolescent girls were grouped into three socioeconomic status according to the educational and occupational levels of their parents. The age at menarche and the menarcheal pattern were evaluated according to the socioeconomic status. RESULTS: The ages of girls involved in the study ranged between 14 and 18 years, with a mean of 15.7+/-1.1 years. Although the menarcheal age was found to be lower in girls with higher socioeconomic status, there was no significant difference between the three different socioeconomic status. In all of the three groups, menarche was more common in summer and fall than in spring and winter. Although the mother was an important source of knowledge in all groups, it was significantly more important in the group with high socioeconomic status. Adolescent girls with low socioeconomic status had fewer premenstrual complaints. However, there was no significant difference between the groups. We found an inverse correlation between menarcheal age and postmenarcheal weight and the BMI (r=-0.14, p=0.000). However, there was no correlation between menarcheal age and postmenarcheal height. CONCLUSION: These results indicate that as the social status differences decrease, the difference observed in menarcheal age and pattern disappears in urban areas of developing countries. Menarcheal age may be an indicator of socioeconomic development. It does not influence postmenarcheal height; however, as menarcheal age decreases, BMI increases.

Seroprevalence of Helicobacter pylori in a pediatric population.

Helicobacter pylori (H. pylori) is one of the common bacterial infections in humans. In this study, seroprevalence of H. pylori infection in a pediatric population in Izmir and its relationship with different variables were investigated. Two hundred twenty-six children (115 boys, 111 girls, age range: 1-18) were tested for anti-H. pylori IgG. Socioeconomic conditions, living area (urban or rural), and number of people living in the same house were noted for each subject. H. pylori antibodies were determined by an enzyme immunoassay. Overall, 120 (53%) subjects were seropositive for H. pylori. The seroprevalence of H. pylori increased significantly with age and poor socioeconomic conditions. Seroprevalence did not differ according to sex, number of people living in the same house or living area.

Measles seroprevalence in Izmir with special emphasis on measles vaccination policy for Turkey.

BACKGROUND: Measles outbreaks seem to occur every 2- to 3-year intervals in Turkey. However, sero-epidemiological studies are limited. Knowing the prevalence of measles susceptibility as measured either by serologic markers of immunity or surveys of vaccination coverage is an important tool to assess the risk for measles outbreaks. METHODS: In order to determine the seroprevalence of measles antibodies among a 1 to 29-year-old population in Izmir (Turkey) and to develop the best vaccination policy for measles, a total of 600 people aged from 1 to 29 were selected for the study with cluster sampling. The information on sociodemographic characteristics, vaccination status and measles history was gathered for each participant. Measles-specific IgG antibodies were screened qualitatively by using microenzyme immune assay for 595 subjects. RESULTS: Of the 595 participants screened for the measles antibodies, 56 (9.4%) were seronegative. The proportion of the susceptible individuals in the age groups of 1-4, 5-9, 10-14, 15-19 and 20-29 was 20.0, 10.4, 6.0, 10.3 and 3.0%, respectively. The logistic regression analysis showed that none of the independent characteristics (sex, socioeconomic status, past measles history, vaccination status) with the exception of age group, was significantly associated with measles seronegativity. CONCLUSION: The optimal measles vaccination policy for Turkey may be to increase vaccination coverage above 90%, to conduct a catch-up campaign covering persons aged 1-19, regardless of previous vaccination status. Another factor to consider is to adopt a routine two-dose vaccination, giving the first dose at 12-15 months of age and the second dose at school entry.

Low-dose intradermal administration of recombinant hepatitis B vaccine in children: 5-year follow-up study.

Several studies have documented the efficacy of low-dose intradermal administration of hepatitis B vaccine. However, little is known about the duration of protection provided by low-dose intradermal administration of hepatitis B vaccine. This study reports results from a 5-year follow up period of 200 healthy children (100 infants and 100 preschool children) immunized intradermally with 2 microg doses of recombinant hepatitis B vaccine (GenHevac B) at months 0,1, and 6. In the 8th week after the third vaccine dose, 97% of the children developed anti-HBs antibodies higher than or equal to 10 mlU ml(-1), and the antiHBs geometric mean titre (GMT) was 676 mlU ml(-1). In month 18 and year 5, the anti-HBs GMT decreased to approximately one-third (220 mlU ml(-1)) and one-tenth (68 mlU ml(-1)) of the initial levels, respectively. However, 87% of the children had protective levels of anti-HBs (> or =10 mlU ml(-1)) after 5 years. Among 156 children followed for 5 years, none became positive for anti-HBc and/or HbsAg. Seven children who were seronegative after 5 years developed anti-HBs antibodies higher than 1000 mlU ml(-1) after an additional 10 microg intramuscular hepatitis B vaccine. Persistent immunologic memory over periods of 5 years or more is evident, the anamnestic antibody response to a booster dose of vaccine, even in these children who have lost antibody. We conclude that intradermal administration of 2 microg recombinant hepatitis B vaccine provides long-term protection against hepatitis B virus in infants and preschool children.

Influence of feeding regimens on non-invasive inferior vena cava and hepatic vein velocity measurements in infants.

UNLABELLED: The aim of this study was to investigate the effects of feeding type and osmotic load on intravascular volume status. Ninety term, healthy infants 2 mo of age were included in the study. The breastfed and formula-fed groups each consisted of 45 infants. Echocardiographic examination was performed before and after feeding. The collapse index of the inferior vena cava (IVCIC) and right atrial pressure (RAP) were calculated. No statistically significant differences were found between before- and after-feeding values of IVCIC, RAP and hepatic vein velocities in breastfed infants. In the formula-fed group, after-feeding values of IVCIC were significantly lower and RAP, hepatic vein systolic and diastolic velocities were significantly higher compared to the before-feeding values. Most of the mothers (78%) were unsuccessful at preparing the formula at appropriate concentrations. No statistically significant differences were found between the before-and after-feeding values of IVCIC, RAP and hepatic vein velocities in infants being fed appropriately prepared formula. The after-feeding values of hepatic vein velocities were higher than those of before-feeding values; after-feeding values of IVCIC were lower than before-feeding values in infants being fed highly concentrated formula. CONCLUSION: The values of inferior vena cava indices and hepatic vein velocities were not effected by feeding in infants receiving appropriately concentrated formula, like those of infants receiving breast milk. However, feeding with highly concentrated formula may cause intravascular volume expansion.

Adequate immune response to tetanus toxoid and failure of vitamin A and E supplementation to enhance antibody response in healthy children.

The effects of vitamin A and vitamin E supplementation on the IgG response to tetanus toxoid after primary immunization were evaluated in a prospective, randomized controlled clinical trial involving 89 healthy infants with normal serum vitamin A and E levels at 2 months of age. Before the first dose of DPT vaccine, the infants were randomly enrolled into four different study groups [Group I (n=24): 30,000 IU vitamin A for 3 days just after each three doses of primary vaccination, Group II (n=21): 150 mg oral vitamin E for only 1 day after the injections for primary immunization, Group III (n=21): vitamins A and E together in the same order, Group IV (n=23) no vitamin after DPT vaccines]. Serum tetanus antitoxin (IgG) titres were measured three times; initially at 2 months of age before the first dose of DPT, secondly at 5 months of age 1 month after primary immunization and thirdly at 16-18 months of age before the booster dose of DPT. Before the first dose of the DPT vaccine, 1 month after the third DPT injection and at 16-18 months before the booster dose of DPT, there was no significant difference in serum tetanus antitoxin levels between these four groups. A significant increase was observed in all the groups when serum tetanus antitoxin levels before (2 months) and after (5 months) primary immunization were compared. In addition, serum antibody levels against tetanus significantly decreased in the four groups before booster vaccination. Before the beginning of primary immunization, 15 infants (16.8%) had serum tetanus antitoxins (IgG) below protective level. After three doses of DPT, all the infants had protective antitoxin levels. At 16-18 months of age before booster dose, four infants (10%) also had serum tetanus antitoxins (IgG) below the protective level. No side-effects were observed except bulging fontanelle in two infants in Group I.

Vitamin A deficiency in healthy children aged 6-59 months in Izmir Province of Turkey.

Vitamin A deficiency even at subclinical levels is associated with increased childhood mortality. There have been few studies related to vitamin A status of children in Turkey. The aim of this study was to assess vitamin A status of children aged 6-59 months in Izmir, Turkey, and to evaluate the relationship of these levels with nutritional status. One hundred and sixty children were selected for the study using the cluster sampling method. Serum retinol levels were measured by high-performance liquid chromatography (HPLC) and ranged from 9.8 to 59.2 micrograms/dL (mean 29.3 +/- 9.5 micrograms/dL). Levels were below the lower limit of the normal range in 15.6% of the children. Deficient and marginal serum retinol among stunted children were observed in 16% and 42% respectively. There was a statistically significant relationship between low serum retinol and stunting (P < 0.05). Although xerophthalmia and other clinical signs of vitamin A deficiency are rarely seen, subclinical vitamin A deficiency is a public health problem in Izmir, Turkey.

Immunity to diphtheria in Izmir, Turkey.

In order to assess immunity to diphtheria in Izmir, Turkey, a total of 743 persons 1-70 years of age were selected with cluster sampling. The information on socio-demographic characteristics, vaccination status and diphtheria history was gathered for each participant. Diphtheria antitoxin levels were measured qualitatively by using micro-enzyme immune assay. Of studied population, 79.1% had fully protective antitoxin levels (> or = 0.1 IU/ml). Diphtheria protection rates showed a gradual age-related decrease, reaching minimum in the 30-44 age group, in which 40.2% of these subjects had antibody titre below the full protective level. The diphtheria antitoxin geometric mean titer was highest in the 5-9 year age group (1.05 IU/ml). Then, geometric mean titer decreased with increasing age, and reached the minimum level in the 30-44 age group (0.19 IU/ml). These results suggest that in Izmir, Turkey, full serological protection against diphtheria is only detectable in 60% of the adult population. The enhancement of diphtheria immunity by booster vaccinations in adolescents and adults should be considered in Turkey.

Rubella seroprevalence in an unvaccinated population in Izmir: recommendations for rubella vaccination in Turkey.

BACKGROUND: The European Advisory Group on the Expanded Program on Immunization of WHO has recommended that by 2010 or earlier congenital rubella should be well-controlled or eliminated in all countries in Europe. Debate on the introduction of rubella vaccine into national immunization schedules continues to occur, and data on rubella and congenital rubella syndrome in Turkey are insufficient. OBJECTIVE: To determine age-specific rubella seroprevalence in the 1- to 29-year-old unvaccinated population in Izmir, Turkey. METHODS: A total of 600 unvaccinated persons 1 to 29 years old were selected for the study with cluster sampling in Izmir, Turkey. The information on sociodemographic characteristics and disease history was gathered for each participant, and in 580 of them rubella-specific IgG antibodies were assayed quantitatively by the micro-enzyme immunoassay. RESULTS: Of the 580 participants tested for rubella antibodies, 135 (23.3%) were seronegative. The proportions of susceptible individuals were 61.7, 29.5, 12.4, 10.3 and 8.4% in the age groups of 1 to 4, 5 to 9, 10 to 14, 15 to 19 and 20 to 29 years, respectively. Of the young women 15 to 19 years of age, 13.5% were susceptible to rubella infection. CONCLUSIONS: Because a substantial proportion of women in their childbearing years are susceptible to rubella, immunization efforts should be directed at infants or prepubertal children.

Low-dose intradermal versus intramuscular administration of recombinant hepatitis B vaccine: a comparison of immunogenicity in infants and preschool children.

Two hundred infants and two hundred preschool children were randomly assigned to receive either 10 micrograms of recombinant hepatitis B vaccine (GenHevac B) intramuscularly (i.m.) or 2 micrograms intradermally (ID) in the deltoid region at 0, 1 and 6 months. Antibody to hepatitis B surface antigen (anti-HBs) was tested eight weeks after the third vaccine dose. Standard dose i.m. and low-dose ID administration of recombinant hepatitis B vaccine produced comparable rates of anti-HBs equal to or higher than 10 mIU ml-1 in infants (98% and 94%, respectively) and preschool children (98% and 100%, respectively). Although i.m. vaccination produced higher anti-HBs concentrations than ID vaccination both in infants (geometric mean titre-GMT, 935 versus 621 mIU ml-1) and preschool children (GMT, 1393 versus 804 mIU ml-1), the differences were not statistically significant (p > 0.05). The preschool children tended to have higher anti-HBs concentrations than the infants. No clinically serious adverse effects were observed in both vaccine groups; however, induration and hyperpigmentation at the injection site were more often seen in the study population that was vaccinated intradermally. We conclude that intradermal administration of 2 micrograms recombinant hepatitis B vaccine is safe and effective in infants and preschool children, and may be an acceptable, less expensive alternative to full-dose i.m. vaccination for mass immunization, especially in developing countries.

Early determination of nutritional problems in pediatric cancer patients.

Mild and marginal malnutrition must be identified to prevent the development of severe protein-energy malnutrition in pediatric cancer patients. We aimed to evaluate nutritional status and determine daily energy, protein and micronutrient intake to identify mild or marginal malnutrition in pediatric cancer patients. Daily energy, protein and micronutrient intake, anthropometric measurements and biochemical indices were studied in 45 patients (25 in remission, 20 newly diagnosed or relapsed) who consumed energy, protein, vitamins and minerals below the recommended quantities. According to the weight-for-height index, 23 children (51.1%) were determined to be malnourished. Absolute and relative prealbumin values were 19.4 +/- 7.2 mg/dl and 74.3 +/- 29.1 mg/dl in the remission group, and 14.8 +/- 5.1 mg/dl and 58.1 +/- 23.3 in the active disease group, respectively (p < 0.05). Relative prealbumin values were found to be low in 63.6 percent of nonmalnourished children, and 80 percent of children with mild malnutrition. We conclude that malnutrition is common in pediatric cancer patients, and prealbumin is a reliable and sensitive indicator of mild and marginal malnutrition. Determining prealbumin values and assessing the deficiency of micro- and macronutrients before malnutrition is detected by anthropometric measures may provide a warming that nutritional problems may occur.

Comparison of growth, serum prealbumin, transferrin, IgG and amino acids of term infants fed breast mild or formula.

This study was designed to compare growth parameters, biochemical indices of protein metabolism and serum amino acid patterns in newborn infants fed either human milk (n: 22) or formula with protein and amino acid concentrations similar to human milk (n: 19) during the first two months of life. Growth parameters were normal and similar in all infants. Serum levels of transferrin and IgG were not significantly different, whereas prealbumin concentrations were found to be significantly higher in infants fed formula compared to those fed human milk. In the formula group, glutamic acid and cystine levels were significantly lower while phenylalanine and proline were significantly higher compared to the breastfed group. It was observed that feeding a formula with an amino acid pattern similar to that of human milk does not necessarily give rise to identical patterns of amino acids or indices of protein metabolism.

Intradermal administration of hepatitis B vaccine in infants and preschool children.

One of the ways to administrate hepatitis B vaccination is the intradermal (id) route. The aim of this study is to evaluate the immunologic response of various age groups of children who received three 2 micrograms id doses of recombinant hepatitis B vaccine. One hundred and eighty-seven children (86 infants, 101 preschool children) were administered a 2 micrograms dose of recombinant hepatitis B vaccine (Gen Hevac B) intradermally zero, one and six months. Eight weeks after the third vaccination, the geometric mean titers (GMT) of antibody to hepatitis B surface antigen (anti-HBs) of infants was 753 IU/L; that of preschool children was 799 IU/L. There was no statistically significant difference between the anti-HBs GMT of infants and preschool children. However, infants were less likely to have developed protective anti-HBs (< or = 10 IU/L) than preschool children (93% vs 100%, p = 0.009). In 8.1 percent of infants and 3.9 percent of preschool children, local reactions were observed. The 2 micrograms recombinant vaccine by id route is safe and suitable for immunization of preschool children. The id route is technically difficult to administrate in infants and protective seroconversion rates are lower than in preschool children.

Changing epidemiology of measles in Turkey: need for reassessment of measles vaccination policy?

Changing epidemiology of measles in Turkey and in Izmir city, since the introduction of measles vaccine was examined in order to evaluate the need for new strategies to control measles infection. After the National Vaccination Campaign in 1985, the rates of incidence and mortality dropped to 4.2/100000 and 0/million, respectively, in 1987. When the epidemics in 1989 and 1993 were examined it was seen that more measles cases occurred in age groups 5-9 and > 15 years, and most of the cases seen in children in primary and secondary schools were in those previously immunized against measles. Future strategies for control of measles should aim at increasing the coverage rate and introducing a two-dose regimen to reduce vaccine failure.

The effect of immunization against tetanus during pregnancy for protective antibody titres and specific antibody responses of infants.

The protective effect of immunization against tetanus during pregnancy was examined by determining the serum antitoxin titres in 28 infants of twice immunized mothers and in 39 infants of non-immunized mothers during pregnancy. In addition, it was also determined whether transplacentally passive immunization of infants exerts a suppressive effect on active immunization with DPT vaccine. Before primary immunization with DPT, serum tetanus antitoxin (IgG) titres higher than protective level of 0.1 IU/ml were found in 100 per cent of infants of mothers immunized during pregnancy. Thirty-one per cent of infants born to non-immunized mothers had serum tetanus antitoxin titres below the protective level. In the sera obtained 1 month after the third dose of DPT vaccine, no significant difference was observed between the infants of both groups of mothers. It was concluded that specific antibody responses to three doses of DPT vaccine in infants who had received passive immunity from their mothers were not suppressed, and administration of two doses of tetanus toxoid to women during pregnancy provided passive transient protection of the infant against tetanus before administration of first dose of DPT vaccine.

An automated intelligent diagnostic system for the interpretation of umbilical artery Doppler velocimetry.

The objective is to develop an automated intelligent diagnostic system for the interpretation of umbilical artery velocity waveforms. An ultrasound instrument with pulsed-wave Doppler is connected to a microcomputer by means of a frame grabber. After data acquisition, umbilical Doppler velocimetry is handled as a pattern recognition (feature extraction and classification) and decision-making problem. Automated image processing (enhancement, smoothing/ thresholding and edge detection) and analysis are used for feature extraction. Six waveform indices obtained by feature extraction are used as input layer to vector quantization which classifies waveforms into six groups. A clinical decision is assigned to each group by the medical expert. Our system is trained by 278 and 380 waveform images of 94 normal and 157 high risk pregnancies, respectively. The system was tested with 193 and 61 images of normal and risky pregnancies; it was demonstrated that sensitivity and specificity of the system are 54.1% and 80.3%, respectively.