bluuebunny/crossref_metadata_2025_split huggingface dataset:
The Influence of Environmental and Genetic Factors on Behavior Problems and Autistic Symptoms in Boys and Girls With Fragile X Syndrome
Authors: Hessl David , Dyer-Friedman Jennifer , Glaser Bronwyn , Wisbeck Jacob , Barajas R. Gabriela , Taylor Annette , Reiss Allan L. 
Published: August 2004

Objective.Fragile X syndrome, caused by mutations in a single gene of the X chromosome (FMR1), is associated with neurobehavioral characteristics including social deficits with peers, social withdrawal, gaze aversion, inattention, hyperactivity, anxiety, depression, and autistic behavior. However, there is considerable variability in the behavioral and psychiatric problems among children with this condition. The purpose of this study was to measure genetic and environmental factors influencing behavior problems and autistic symptoms in children with fragile X syndrome.Design.We conducted an in-home evaluation of 120 children (80 boys and 40 girls) with the fragile X full mutation and their unaffected siblings, including measurements of the FMR1 protein (FMRP), quality of the home environment, maternal and paternal psychopathology, effectiveness of educational and therapeutic services, and child behavior problems.Results.Results of multiple regression analyses showed that for boys with fragile X, effectiveness of educational and therapeutic services and parental psychological problems predicted internalizing and externalizing types of problems, while the quality of the home environment predicted autistic behavior. For girls with fragile X, the results emphasized significant effects of FMRP on behavior, in particular social withdrawal and anxious/depressed behavior.Conclusions.These findings are among the first to link FMRP expression to behavior. They also emphasize the significance of home- and school-based environmental variables in the neurobehavioral phenotype and help to lay the foundation for studies designed to identify specific interventions for reducing problem behavior in children with fragile X syndrome.
Bone Mineral Density and Importance of a Gluten-Free Diet in Patients With Celiac Disease in Childhood
Authors: Kalayci Ayhan Gazi , Kansu Aydan , Girgin Nurten , Kucuk Ozlem , Aras Gulseren 
Published: August 2004

Objectives.
Celiac disease (CD), a common cause of malabsorption, is known to be associated with disorders of the skeleton, but there are conflicting data about the effect of diet on bone metabolism. The aims of this study were to investigate the prevalence of osteopenia; to identify the relationship between bone mineral density (BMD), serum calcium, and parathyroid hormone levels; and to determine the effect of gluten-free diet on BMD in children with celiac disease.

Design.
The study included 32 patients with CD (group 1) and 82 healthy controls (group 2). The patients with CD were evaluated under 2 subgroups, ie, 16 patients with recent diagnosis (group 1a) and 16 patients who follow their diet strictly (group 1b). BMD values and concentrations of calcium, phosphorus, alkaline phosphatase, and intact parathyroid hormone were determined on entry to the study and at 12 months in celiac patients. These values were compared with those of healthy control participants.

Results.
BMD and bone mineral content values in patients with recent diagnosis were found to be significantly lower than the control group. The BMD values in patients with recent diagnosis were significantly increased after a gluten-free diet for 1 year. Osteopenia was found more commonly in patients with recent diagnosis than patients in whom a gluten-free diet had been instituted. At 1-year follow-up, osteopenia was not resolved with the gluten-free diet, and this was especially true in patients without gastrointestinal manifestation. In patients with recent diagnosis (group 1a), the mean calcium level was found to be lower than the patients who follow their diet strictly (group 1b). There was a positive correlation between calcium level and BMD and bone mineral content.

Conclusions.
BMD is almost invariably low in newly diagnosed celiac patients in childhood. We therefore recommend that BMD should be evaluated in patients with CD. Strict gluten avoidance promoted a significant increase in BMD. However, values still remained markedly low after 1 year of follow-up in some patients. These patients should be followed for longer periods of time with yearly BMD evaluation, as 1 year of diet therapy was found to be insufficient for osteopenia to be resolved.
Unmasking of Childhood Hypothyroidism by Disseminated Xanthomas
Authors: Dötsch Jörg , Zepf Kristina , Schellmoser Stefan , Rascher Wolfgang , Dörr Helmuth G. 
Published: August 2004

Secondary hyperlipidemia is a common laboratory finding in children with nephrotic syndrome, diabetes mellitus, and hypothyroidism. However, clinical signs of hyperlipidemia are extremely rare in childhood.
We report on an 11-year-old girl who presented with a disseminated yellow papulomatous rash on the lower limbs and yellow skin creases on the palms of her hands. Blood tests yielded an opaque serum with a triglyceride concentration of 820 mg/dL and cholesterol of 1050 mg/dL. Skin biopsy of one of the papules confirmed the diagnosis of xanthomas.
Additional examinations revealed clinical (weight gain, diminished growth rate) and biochemical primary hypothyroidism (free T4: 0.4 ng/L [normal 8–22 ng/L]; thyroid-stimulating hormone: &gt;200 mU/L) as a consequence of Hashimoto thyroiditis (thyroid peroxidase and thyroglobulin: 4400 U/mL and &gt;2000 U/mL, respectively; normal &lt;60 U/mL). The patient was started on L-thyroxine, which led to a gradual decline of cholesterol and triglycerides to normal concentrations and a complete remission from the xanthomatous rash.
For the first time, this case depicts disseminated xanthomas of the skin as the presenting complaint of severe hypothyroidism. hyperlipidemia, hypothyroidism, xanthoma.
Annual Summary of Vital Statistics: 2000
Authors: Hoyert Donna L. , Freedman Mary Anne , Strobino Donna M. , Guyer Bernard 
Published: August 2004

The birth rate in 2000 (preliminary data) was 14.8 births per 1000 population, an increase of 2% from 1999 (14.5). The fertility rate, births per 1000 women aged 15 to 44 years, increased 3% to 67.6 in 2000, compared with 65.9 in 1999. The 2000 increases in births and the fertility rate were the third consecutive yearly increases, the largest in many years, halting the steady decline in the number of births and fertility rates in the 1990s.Fertility rates for total white, non-Hispanic white, black, and Native American women each increased about 2% in 2000. The fertility rate for black women, which declined 19% from 1990 to 1996, has changed little since 1996. The rate for Hispanic women rose 4% in 2000 to reach the highest level since 1993. Birth rates for women 30 years or older continued to increase. The proportion of births to unmarried women remained about the same at one third, but the number of births rose 3%.The birth rate for teen mothers declined again for the ninth consecutive year. The use of timely prenatal care (83.2%) remained unchanged in 2000, and was essentially unchanged for non-Hispanic white (88.5%), black (74.2%), and Hispanic (74.4%) mothers.The number and rate of multiple births continued their dramatic rise, but all of the increase was confined to twins; for the first time in more than a decade, the number of triplet and higher-order multiple births declined (4%) between 1998 and 1999 (multiple birth information is not available in preliminary 2000 data). The overall increases in multiple births account, in part, for the lack of improvement in the percentage of low birth weight (LBW) births. LBW remained at 7.6% in 2000.The infant mortality rate (IMR) dropped to 6.9 per 1000 live births (preliminary data) in 2000 (the rate was 7.1 in 1999). The ratio of the IMR among black infants to that for white infants was 2.5 in 2000, the same as in 1999. Racial differences in infant mortality remain a major public health concern. The role of low birth weight in infant mortality remains a major issue. Among all of the states, Utah and Maine had the lowest IMRs. State-by-state differences in IMR reflect racial composition, the percentage LBW, and birth weight-specific neonatal mortality rates for each state. The United States continues to rank poorly in international comparisons of infant mortality.Expectation of life at birth reached a record high of 76.9 years for all gender and race groups combined. Death rates in the United States continue to decline. The age-adjusted death rate for suicide declined 4% between 1999 and 2000; homicide declined 7%. Death rates for children 19 years of age or less declined for 3 of the 5 leading causes in 2000; cancer and suicide levels did not change for children as a group. A large proportion of childhood deaths, however, continue to occur as a result of preventable injuries.
Comparison of Management Strategies for Extreme Prematurity in New Jersey and the Netherlands: Outcomes and Resource Expenditure
Authors: Lorenz John M. , Paneth Nigel , Jetton James R. , den Ouden Lya , Tyson Jon E. 
Published: August 2004

Objective. To quantify differences in resource expenditure in the perinatal period and long-term outcome of extremely premature infants who received systematically different approaches to neonatal intensive care.Methods. Perinatal management, mortality, prevalence of disabling cerebral palsy (DCP), and resource expenditure of 2 population-based inception cohorts of extremely premature infants born in the mid-1980s were compared. Electronic fetal monitoring, tocolysis, cesarean section delivery, and assisted ventilation were used to characterize management approaches. Participants included all live births at 23 to 26 weeks’ gestation in a 3-county area of central New Jersey (NJ) from 1984 to 1987 (N = 146) and throughout the Netherlands (NETH) in 1983 (N = 142). Mortality and the prevalence of DCP were the primary outcomes. Numbers of hospital days with and without assisted ventilation were the measures of resource expenditure.Results. Electronic fetal monitoring (100% vs 38%), cesarean section (28% vs 6%), and assisted ventilation (95% vs 64%) were all more commonly used in NJ than in NETH. Ten percent of NJ deaths occurred without assisted ventilation, compared with 45% of Dutch deaths. A total of 1820 ventilator days were expended per 100 live births in NJ, compared with 448 in NETH. The increase in the number of nonventilator days (3174 vs 2265 days per 100 live births) did not reach statistical significance. Survival to age 2 (46 vs 22%) and the prevalence of DCP among survivors (17.2 vs 3.4%) were significantly greater in NJ at age 2 than in NETH at age 5.Conclusions. Near universal initiation of intensive care in NJ, compared with selective initiation of intensive care in NETH, was associated with 24.1 additional survivors per 100 live births, 7.2 additional cases of DCP per 100 live births, and a cost of 1372 additional ventilator days per 100 live births.
Newborn Screening for Congenital Adrenal Hyperplasia inthe Netherlands
Authors: Van der Kamp Hetty J. , Noordam Kees , Elvers Bert , Van Baarle Maja , Otten Barto J. , Verkerk Paul H. 
Published: August 2004

Objective. To evaluate whether congenital adrenal hyperplasia (CAH) patients can be detected by newborn screening before the occurrence of life-threatening salt wasting and whether the prevalence, specificity, and sensitivity are adequate enough for a routine screening procedure.
Design. From 1998, a 2-year regional pilot screening for CAH was performed. In 1998, cutoff levels for 17OHP were primarily based on birth weight, and in 1999 on gestational age. In addition, nationwide, all newly diagnosed patients with CAH were reported to the Dutch Pediatric Surveillance Unit to compare screened CAH patients with CAH patients in the area without screening.
Results. In 2 years, 176 684 newborns were screened and 15 CAH patients (7 males/8 females) were detected. Therapy was started at the median age of 7 days. In the area without screening, 223 307 infants were born and 19 CAH patients (10 males/9 females) were reported to the Dutch Pediatric Surveillance Unit. Therapy was started at the median age of 14 days. The mean (standard deviation) serum sodium concentration was 134.5 (3.4) mmol/L in the area of screening versus 124.5 (10.8) mmol/L in the area without screening. The overall prevalence was 1:11 764. In 1998 and 1999, the specificity was 99.76% and 99.97%, respectively. The positive predictive value was 4.5% and 16%, respectively. To date, no false-negative cases have been detected.
Conclusion. Severe salt wasting can be prevented by neonatal screening. The prevalence, specificity, and sensitivity allowed addition of screening for CAH to the routinely performed national neonatal screening program.
Evaluation of Administration of Activated Charcoal in the Home
Authors: Spiller Henry A. , Rodgers George C. 
Published: August 2004

Objective. Activated charcoal (AC) is recognized as the treatment of choice for gastrointestinal decontamination after many ingestions. AC use in the home has been limited by concerns that parents would not administer it properly and that children would refuse to take AC. Previous descriptions of home administration have reported mixed results.
Methods. This was an 18-month consecutive case series of all patients for whom AC administration was recommended in the home. Data collected included AC availability in the home and/or a local pharmacy, success in administration, amount administered, time after ingestion to AC administration, difficulties in administration, adverse effects, age and gender of patient, substance involved in poisoning, and medical outcome. All cases were followed for at least 3 days after the ingestion. Patients who initially had home AC recommendation but who ultimately were treated in the emergency department (ED) served as a comparison group.
Results. Home administration of AC was recommended in 138 cases. A total of 115 individuals (83%) were treated with AC in the home, with no failures to administer AC. Reasons for failure to manage at home were 1) mother preferred ED (8 cases), 2) could not locate AC (7 cases), 3) pharmacy closed for the night (6 cases) and 4) no home telephone for follow-up (2 cases). Time to AC administration after ingestion was a mean of 38 minutes (±18.3) for home treatment and 73 minutes (±18.1) for ED treatment. Ninety-five percent of home cases received AC in ≤60 minutes versus 33% for ED management. AC was in the home in 11 cases at the time of recommendation. The amount of AC administered was a mean of 12.1 g (standard deviation: 6.9) and a median of 12 g. Eight children (6.9%) who were treated at home vomited after AC versus 3 (13%) who received ED treatment. No aspirations or complications occurred.
Conclusion. AC can be administered successfully by the lay public in the home. Home use of AC significantly reduces the time to AC administration.
Cardiovascular Anomalies in Patients Diagnosed With a Chromosome 22q11 Deletion Beyond 6 Months of Age
Authors: McElhinney Doff B. , McDonald-McGinn Donna , Zackai Elaine H. , Goldmuntz Elizabeth 
Published: August 2004

Objective. Cardiovascular anomalies are present in 75% to 80% of patients with a chromosome 22q11 deletion. In the majority of cases, the cardiovascular defect becomes evident in the neonatal period and is often the initial manifestation of the chromosome 22q11 deletion syndrome. However, a 22q11 deletion may also be associated with cardiovascular defects that are less obvious, such as a vascular ring, which may not be diagnosed until the patient is older. The objective of this study was to determine the frequency and types of cardiovascular anomalies in patients diagnosed with a chromosome 22q11 deletion beyond 6 months of age.
Methods. We studied 29 patients diagnosed with a chromosome 22q11 deletion at a median age of 6.2 years (9 months to 45 years) who were subsequently referred for cardiovascular evaluation. Comprehensive cardiologic evaluation was performed, with transthoracic echocardiography (N = 28) and/or magnetic resonance imaging (N = 6), including imaging of the aortic arch. The frequency of cardiovascular anomalies diagnosed in these patients and the need for intervention were assessed.
Results. Cardiovascular anomalies were detected in 11 (38%) patients: 3 with a vascular ring formed by a right aortic arch with an aberrant left subclavian artery and left-sided ligamentum arteriosum, 3 with a right aortic arch with mirror-image branching of the brachiocephalic arteries (no vascular ring; 1 with a patent ductus arteriosus), 4 with a left aortic arch with an aberrant right subclavian artery (no vascular ring; 1 with a patent ductus), and 1 with a left superior vena cava draining to the coronary sinus. The median age at diagnosis in these 11 patients was 3 years (9 months to 28 years). The remaining 18 patients had normal cardiovascular anatomy. All 3 patients with vascular rings subsequently underwent surgical repair, and 1 patient with a ductus arteriosus underwent transcatheter coil occlusion.
Conclusions. The frequency of cardiovascular anomalies necessitating intervention in patients referred for cardiovascular evaluation after diagnosis of a chromosome 22q11 deletion beyond 6 months of age is 14% in our experience. Routine screening for cardiovascular anomalies, including echocardiography and other imaging studies to identify the laterality and branching pattern of the aortic arch, is indicated in patients diagnosed with 22q11 deletion beyond 6 months of age and is particularly critical for patients with respiratory or feeding disorders.
Swallowing Function and Medical Diagnoses in Infants Suspected of Dysphagia
Authors: Newman Lisa A. , Keckley Carrie , Petersen Mario C. , Hamner Annette 
Published: August 2004

Objective. There has been an increase in infant swallowing disorders as a result of improved survival for infants born prematurely or with life-threatening medical disorders. These infants often have multiple health issues and an increased risk of respiratory complications. However, there is little understanding of the biomechanics of infant swallowing disorders. Therefore, the objectives of this study were to determine 1) the percentage of dysphagic infants who experience laryngeal penetration, aspiration, or nasopharyngeal backflow; 2) reasons for laryngeal penetration/aspiration; 3) whether infants with laryngeal penetration/aspiration clear their airway; and 4) the relationship between swallowing disorders and medical diagnoses.
Methods. Patients included 43 infants who were referred for videofluoroscopic swallowing studies in a university-affiliated pediatric medical center. Medical charts were reviewed. The videofluroscopic swallowing studies were recorded on videotape, and each swallow was analyzed for laryngeal penetration, aspiration, nasopharyngeal backflow, cough, airway clearance, and reason for penetration/aspiration. Statistics included χ2 for nonparametric data and measures of central tendency for numeric/timing data.
Results. More than half of the infants experienced laryngeal penetration, aspiration, or nasopharyngeal backflow; however, the first occurrence of these events was after multiple swallows. Only 3 infants experienced laryngeal penetration and aspiration on the first swallow and all 3 had an absent pharyngeal response. Premature infants experienced significantly more nasopharyngeal backflow. Material in the pyriform sinuses before pharyngeal swallowing was associated with penetration/aspiration. In episodes of laryngeal penetration, all patients were able to clear their airway during the swallow without a cough. Almost all infants (8 of 9) who aspirated did not cough or clear their airway.
Conclusions. This study demonstrated that most infants suspected of dysphagia showed overt abnormalities: laryngeal penetration, aspiration, and/or nasopharyngeal backflow on the videofluoroscopic swallowing study. Most of these infants did not demonstrate abnormalities in the first few swallows but displayed deterioration in swallowing function as they continued to feed. Thus, radiographic assessments in infants must examine multiple swallows. The high incidence of silent aspiration demonstrates the necessity of a videofluoroscopic assessment to evaluate swallowing function in these infants.
Comparison of Body Weight and Height of Israeli Schoolchildren With the Tanner and Centers for Disease Control and Prevention Growth Charts
Authors: Goldstein Abraham , Haelyon Uri , Krolik Evgenia , Sack Joseph 
Published: August 2004

Objective. To examine the suitability of the growth charts that are currently used in Israel and consider their replacement with a recent standard. In a sample of schoolchildren, the current Tanner and Whitehouse standards were compared with the new growth charts from the Centers for Disease Control and Prevention (CDC).
Method. A total of 746 Israeli healthy children (368 boys and 378 girls) aged 6 to 14 years were sampled from 2 super-regional schools (from the Jewish population). Height was measured using the Leicester height measure, and weight was measured using scales calibrated by the researchers.
Results. In height, 75% of the boys and 81% of the girls fell in the 10th to 90th percentile range of the Tanner standards. In weight, 71% of the boys and 81% of the girls were in the 10th to 90th percentile range. Israeli boys were taller (χ2(1) = 30.53) and heavier (χ2(1) = 29.39), and girls were taller (χ2(1) = 13.81) than predicted by the Tanner standards. The CDC 10th to 90th percentile range included 81% of the boys and 83% of the girls for height and 78% of the boys and 81% of the girls for weight. The girls in our sample were slightly shorter (χ2(1) = 11.87) and lighter (χ2(1) = 9.52) than predicted from the CDC charts. Nevertheless, neither boys’ nor girls’ body mass index measures (kg/h2) differed from the CDC charts.
Conclusions. Our data suggest that the CDC growth charts are adequate for assessing Israeli children and slightly better than the current standard. Thus, in the absence of local standards, we recommend the use of the revised CDC growth charts, which include the additional body mass index measure.