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Neurocutaneous vascular hamartomas mimicking Cobb syndrome. Case report.

The authors report the rare case of a patient with neurocutaneous vascular hamartomas mimicking Cobb syndrome. An 8-year-old boy was admitted to the authors' hospital with progressive urinary disturbance and upper back pain. Multiple skin nevi had been noted at the child's birth. Radiological examination revealed multiple cavernous angiomas in the spinal cord in the same metamere in which the skin nevi had been observed and also in the left cerebral hemisphere. His symptoms gradually improved without surgical intervention. Four years later he was readmitted because of a cerebral hemorrhage involving the left cerebral peduncle. Nonsurgical treatment was chosen because his symptoms promptly improved. To the best of the authors' knowledge, this is the first case of multiple cavernous angiomas in the brain and spinal cord associated with skin nevi. The authors discuss this clinical entity and the significance of the disease.

Back Pain↗

Monitoring for multiple malformations in the detection of epidemics of birth defects.

Although most known human teratogens often produce a combination of birth defects in an affected infant, surveillance programs aimed at detecting epidemics of birth defects usually only monitor rates of individual defects. A drawback to this approach is that an increase in the rate of infants affected with a specific combination of defects may lead to little or no increase in the rates of component defects. Using the Poisson distribution, we show that, compared with monitoring for individual defects, monitoring for combinations of two and three defects may require fewer numbers of births to detect an epidemic. In general, an increase can be detected more rapidly by monitoring the rates of defect combinations than by monitoring the rates of individual defects if most affected infants have combinations of defects rather than isolated defects. For example, in the case of Congenital rubella syndrome (CRS), monitoring for the combination of cataracts with deafness and/or patent ductus arteriosus could have led to earlier detection of an epidemic than could monitoring for cataracts alone. In contrast, in the case of thalidomide embryopathy, monitoring for reduction defects of upper limbs in combination with reduction defects of lower limbs and/or microtia/anotia would not have led to earlier detection of an epidemic than would monitoring for reduction defects of upper limbs alone. This is due mainly to the low frequency of defect combinations among affected cases. When used with regular monitoring for individual defects, surveillance of defect combinations can enhance the ability of monitoring programs to detect epidemics of birth defects.

Abnormalities, Drug-Induced↗

Multiple developmental defects in Engrailed-1 mutant mice: an early mid-hindbrain deletion and patterning defects in forelimbs and sternum.

During mouse development, the homeobox-containing gene En-1 is specifically expressed across the mid-hindbrain junction, the ventral ectoderm of the limb buds, and in regions of the hindbrain, spinal cord, somites and somite-derived tissues. To address the function of En-1 during embryogenesis, we have generated mice homozygous for a targeted deletion of the En-1 homeobox. En-1 mutant mice died shortly after birth and exhibited multiple developmental defects. In the brains of newborn mutants, most of the colliculi and cerebellum were missing and the third and fourth cranial nerves were absent. A deletion of midhindbrain tissue was observed as early as 9.5 days of embryonic development and the phenotype resembles that previously reported for Wnt-1 mutant mice. In addition, patterning of the forelimb paws and sternum was disrupted, and the 13th ribs were truncated. The results of these studies suggest a cell autonomous role for En-1 in generation and/or survival of mid-hindbrain precursor cells and also a non-cell autonomous role in signalling normal development of the limbs and possibly sternum.

Animals↗

[Intrauterine insemination: state-of-the-art in humans].

Despite its being used for a long time, intrauterine insemination (i.u.i.) remains debated as to its precise place and efficacy among assisted reproductive technologies. Data issued from the French Health Ministry inquiries are strictly limited to the number of cycles and the pregnancies and births including the multiple ones. Concerning 2000, more than 44,000 cycles were registered with 8% deliveries per cycle and 12% multiple pregnancies. Apart from the cervical female infertility which is considered to have the best prognosis with i.u.i., literature data remain controversial with male and unexplained infertility. Prospective randomized studies are rather scarce, particularly when considering the inclusion of untreated control population. Meta-analyses have been published for ten years, which allowed to better define the place of i.u.i. in patient management. However one may notice that the sperm cut-off parameters for male infertility and the respective contribution of i.u.i. and ovulation treatment do not allow develop some evidence-based guidelines for i.u.i. good practice. Quite all meta-analyses modulated their conclusions by addressing the need for large randomized controlled studies. Such a need seems now quite reinforced since results were until now expressed as pregnancy rate per cycle or pregnancy rate per couple, whereas single live birth rate and drop out rate are claimed to be taken into account nowadays. Moreover the level of controlled hyperstimulation is highly questionable with both hyperstimulation ovary syndrome and multiple pregnancy risks. Patients facing with failed i.u.i. cycles may turn to i.v.f. or i.c.s.i.. Interestingly data coming from the French national register (FIVNAT) did not show major differences between couples turning to i.v.f. (i.c.s.i.) after previously failed i.u.i. cycles or using directly i.v.f. (i.c.s.i.). Moreover the prognostic as evaluated on pregnancy rate per cycle was unchanged between such patients, which does not support some selection of patients by i.u.i. failure. Thus, although i.u.i. seems likely a cost-effective treatment in infertile couples, the precise conditions of its management (spontaneous or stimulated cycle, mono-, pauci- or multi-follicular induction) remain to be assessed. Indeed large controlled randomized studies including untreated group are required even if such design might have a non negligible cost. However these rather common treatments do have a high cost and any effort to rationalise them will have some economical impact. Another practical approach, although less ambitious, might consist in developing a per cycle registry which should allow to precise the French practice at a large national level.

Adult↗

Increased blood pressure in adolescents who were small for gestational age at birth: a cohort study in Brazil.

BACKGROUND: This paper studies the relationship between birthweight for gestational age and blood pressure in adolescents aged 14-15 years in southern Brazil. METHODS: A sample of 1076 adolescents belonging to a cohort of over 6000 children born in 1982 in Pelotas, southern Brazil, was studied in 1997. All households in a sample of 25% of the city's census tracts were visited and all adolescents born in 1982 were interviewed, weighed, and their blood pressures were measured twice. Data from the adolescents were linked to the database through their names and dates of births. RESULTS: High diastolic and systolic pressure (defined as >95th percentile) were significantly more frequent among adolescents who were born below the 10th percentile of birthweight for gestational age. No association was found between high blood pressure and low birthweight or preterm births. In a multiple linear regression analysis, the association between birthweight for gestational age and blood pressure was not statistically significant after adjusting for age, sex, skin colour and family income. However, when the current body mass index and height were added to the model both diastolic and systolic pressure were significantly associated with birthweight for gestational age, and adolescents who were small for gestational age at birth presented a mean elevation of 3.08 mmHg for diastolic pressure and 2.89 mmHg for systolic pressure. CONCLUSIONS: There is an inverse association between birthweight for gestational age and blood pressure during adolescence. This association, however, is only disclosed when the negative confounding effect of the body mass index is controlled for. The same association is not found when the effects of birthweight and gestational age on blood pressure are analysed separately. It appears therefore that the elevation of blood pressure during adolescence only occurs when there was intra-uterine growth retardation.

Adolescent↗

Diffuse neonatal haemangiomatosis in a newborn child.

Diffuse neonatal haemangiomatosis is a severe disease with a high mortality. It is characterized by multiple haemangiomas at birth affecting the skin and visceral organs. A case of diffuse neonatal haemangiomatosis in a newborn child with a favourable outcome after steroid treatment is described.

Female↗

A multiple-level, comprehensive approach to the prevention of fetal alcohol syndrome (FAS) and other alcohol-related birth defects (ARBD).

A comprehensive program for the prevention of fetal alcohol syndrome (FAS) and alcohol-related birth defects (ARBD) must consider multiple approaches and utilize knowledge from a variety of academic disciplines. Issues related to culture, society, behavior, belief systems, and medicine must all be considered for both etiology and solutions. A broad paradigm such as a public health model integrates various elements of approach. Because FAS and other levels of ARBD form a spectrum, from severe to negligible damage, a variety of drinking patterns with various characteristics and etiologies have to be addressed. This paper describes a multiple-level, comprehensive program with primary, secondary, and tertiary prevention components. Practical recommendations are proposed for addressing ARBD in a variety of arenas. While secondary and tertiary prevention hold promise for short-term reduction of FAS and ARBD prevalence, comprehensive prevention serves both short- and long-term effects. Multiple level prevention efforts are well served by clear and compelling vision and mission statements, and require careful evaluation.

Alcohol Drinking↗

A simple estimated fetal weight equation based on real-time ultrasound measurements of fetuses less than thirty-four weeks' gestation.

Based on ultrasonographic mensuration, a number of equations have previously been devised for the purpose of estimating fetal weights. The objective of this study was to develop a mathematical equation that is simple, accurate, and easy to use when applied to preterm or low-birth weight fetuses (less than 2,500 gm). Real-time ultrasound measurements of fetal biparietal diameters (BPDs) and abdominal circumferences (ACs) were obtained in 62 pregnant women within one week of premature delivery. Mean gestational age and mean birth weight +/- SD for this study group of neonates were 28.5 +/- 3.5 weeks and 1,135 +/- 343 gm, respectively. With the aid of computer analysis, a simple regression equation was derived: EFW = (BPD x AC x 9.337) - 229. When predicted estimated fetal weight (EFW) was compared with actual birth weight (ABW), multiple regression analysis demonstrated a correlation coefficient (R) of 0.957. Preliminary results on 19 patients of a prospective study showed an absolute mean difference between the computed EFWs and the ABWs to be within 7.0% of ABW (70 gm/kg of ABW). The standard deviation of the difference was 9.3% of ABW (93 gm/kg of ABW). Based on these data, this simple equation appears to be clinically reliable and easy to use when estimating weights of preterm or low-birth weight fetuses of less than 2,500 gm.

Birth Weight↗

A summary of recent findings on birth outcomes and developmental effects of prenatal ETS, PAH, and pesticide exposures.

Inner-city minority populations are high-risk groups for adverse birth outcomes and also more likely to be exposed to environmental contaminants, including environmental tobacco smoke (ETS), benzo[a]pyrene B[a]P, other ambient polycyclic aromatic hydrocarbons (global PAHs), and residential pesticides. The Columbia Center for Children's Environmental Health (CCCEH) is conducting a prospective cohort study of 700 northern Manhattan pregnant women and newborns to examine the effects of prenatal exposure to these common toxicants on fetal growth, early neurodevelopment, and respiratory health. This paper summarizes results of three published studies demonstrating the effects of prenatal ETS, PAH, and pesticides on birth outcomes and/or neurocognitive development [Perera FP, Rauh V, Whyatt RM, Tsai WY, Bernert JT, Tu YH, et al. Molecular evidence of an interaction between prenatal environment exposures on birth outcomes in a multiethnic population. Environ Health Perspect 2004;12:630-62; Rauh VA, Whyatt RM, Garfinkel R, Andrews H, Hoepner L, Reyes A, et al. Developmental effects of exposure to environmental tobacco smoke and material hardship among inner-city children. Neurotoxicol Teratol 2004;26:373-85; Whyatt RM, Rauh V, Barr DB, Camann DE, Andrews HF, Garfinkel R, et al. Prenatal insecticide exposures, birth weight and length among an urban minority cohort. Environ Health Perspect, in press]. To evaluate the effects of prenatal exposure to ETS, PAHs, and pesticides, researchers analyzed questionnaire data, cord blood plasma (including biomarkers of ETS and pesticide exposure), and B[a]P-DNA adducts (a molecular dosimeter of PAHs). Self-reported ETS was associated with decreased head circumference (P = 0.04), and there was a significant interaction between ETS and adducts such that combined exposure had a significant multiplicative effect on birth weight (P = 0.04) and head circumference (P = 0.01) after adjusting for confounders. A second analysis examined the neurotoxic effects of prenatal ETS exposure and postpartum material hardship (unmet basic needs in the areas of food, housing, and clothing) on 2-year cognitive development. Both exposures depressed cognitive development (P < 0.05), and there was a significant interaction such that children with exposure to both ETS and material hardship exhibited the greatest cognitive deficit (7.1 points). A third analysis found that cord chlorpyrifos, and a combined measure of cord chlorpyrifos, diazinon, and propoxur-metabolite, were inversely associated with birth weight and/or length (P < 0.05). These results underscore the importance of policies that reduce exposure to ETS, air pollution, and pesticides with potentially adverse effects on fetal growth and child neurodevelopment.

Child↗

Self-reported drug use data: what do they reveal?

The purpose of this study is to examine self-reported marijuana and cocaine use responses from two nationally representative surveys. We compared prevalence rates across birth cohorts for multiple years of the National Household Survey of Drug Abuse (NHSDA) and also analyzed longitudinal inconsistencies in self-reported drug use between two waves of the National Longitudinal Survey Youth Cohort (NLS-Y). We found the percentages of respondents admitting use within the past month, year, and lifetime were comparable to other findings and were consistent with the declining trend in drug use in the late 1980s. A comparison of lifetime prevalence rates revealed seemingly inconsistent reports between 1985 respondents and their birth cohorts in 1990. Using the longitudinal NLS-Y data, we found that roughly one-fifth of the people who had admitted using marijuana or cocaine in their lifetime on the 1984 survey subsequently denied ever having used in 1988. The majority of these cases were people who reported having used infrequently. The subsample of women had similar patterns. In addition, we discovered that women who had been pregnant between the two surveys were more likely to inconsistently deny having ever used, while those who were currently pregnant responded more honestly about their past use. Overall, we found that although most people are willing to provide accurate accounts of their use, the researcher should be aware that under-reporting or complete denial does occur. Most importantly, external factors appear to contribute to the rate of inaccurate reporting.

Adolescent↗

Congenital heart diseases at autopsy of still-born and deceased children in the Central Bohemian Region.

In 1952-1976 autopsy was performed of all 3 734 still-born and 12 809 deceased children in the Central Bohemian region. Congenital heart disease (CHD) was found in 1 067, i. e. 6.45%, of all autopsies. The death rate from CHD in live-born and in still-born infants was 2.1/1000 and 22/1000, respectively. Of all congenital malformations CHD represented 41.4% in the deceased and 21.2% in the still-born infants. The incidence of congenital malformations involving other systems in CHD was 41.4%, the highest incidence being associated with anomalous position of the heart, endocardial cushion defect and ventricular septal defect. The most common associated malformation were congenital anomalies of the gastrointestinal tract. Down's syndrome was identified in 11.5% of all CHD ending in death. Ventricular septal defect, transposition of the great arteries and hypoplastic left-heart syndrome were the most frequent CH diseases. 85.7% of children with CHD leading to death died within the first year of life; 27.3% of CHD infants had a low birth weight.

Abnormalities, Multiple↗

Maternal fish consumption and infant birth size and gestation: New York State Angler Cohort Study.

BACKGROUND: The scientific literature poses a perplexing dilemma for pregnant women with respect to the consumption of fish from natural bodies of water. On one hand, fish is a good source of protein, low in fat and a rich source of other nutrients all of which have presumably beneficial effects on developing embryos and fetuses. On the other hand, consumption of fish contaminated with environmental toxicants such as polychlorinated biphenyls (PCBs) has been associated with decrements in gestation and birth size. METHODS: 2,716 infants born between 1986-1991 to participants of the New York State Angler Cohort Study were studied with respect to duration of maternal consumption of contaminated fish from Lake Ontario and its tributaries and gestation and birth size. Hospital delivery records (maternal and newborn) were obtained for 92% of infants for the ascertainment of gestation (weeks), birth size (weight, length, chest, and head circumference) and other known determinants of fetal growth (i.e., maternal parity, history of placental infarction, uterine bleeding, pregnancy loss or cigarette smoking and infant's race, sex and presence of birth defect). Duration of maternal fish consumption prior to the index infant's birth was categorized as: none; 1-2, 3-7, 8+ years, while birth weight (in grams), birth length (in centimeters), and head and chest circumference (in centimeters) were left as continuous variables in multiple linear regression models. Birth size percentiles, ponderal indices and head to chest circumference ratios were computed to further assess proportionality and birth size in relation to gestational age. RESULTS: Analysis of variance failed to identify significant mean differences in gestation or any measure of birth size in relation to duration of maternal lifetime fish consumption. Multiple linear regressions identified gestational age, male sex, number of daily cigarettes, parity and placental infarction, as significant determinants of birth size. CONCLUSIONS: The results support the absence of an adverse relation between Lake Ontario fish consumption and reduced birth size as measured by weight, length and head circumference. Biological determinants and maternal cigarette smoking during pregnancy remain important determinants of birth size.

Birth Weight↗

Effect of interpregnancy interval on risk of spontaneous preterm birth in Emirati women, United Arab Emirates.

OBJECTIVE: To investigate whether a short interpregnancy interval is a risk factor for preterm birth in Emirati women, where there is a wide range of interpregnancy intervals and uniformity in potentially confounding factors. METHODS: A case-control design based on medical records was used. A case was defined as a healthy multiparous Emirati woman delivering a healthy singleton spontaneously before 37 weeks of gestation between 1997 and 2000, and a control was defined as the next eligible similar woman delivering after 37 weeks of gestation. Women were excluded if there was no information available about their most recent previous pregnancy or if it had resulted in a multiple or preterm birth. Data collected from charts and delivery room records were analysed using the STATA statistical package. All variables found to be valid, stable and significant by univariate analysis were included in multivariate logistic regression analysis. FINDINGS: There were 128 cases who met the eligibility criteria; 128 controls were selected. Short interpregnancy intervals were significantly associated with case status (P<0.05). The multivariate adjusted odds ratios for the 1st, 2nd, and 4th quartiles of interpregnancy interval compared with the lowest-risk 3rd quartile were 8.2, 5.4, and 2.0 (95% confidence intervals: 3.5-19.2, 2.4-12.6, and 0.9- 4.5 respectively). CONCLUSION: A short interpregnancy interval is a risk factor for spontaneous preterm birth in Emirati women. The magnitude of the risk and the risk gradient between exposure quartiles suggest that the risk factor is causal and that its modification would reduce the risk of preterm birth.

Adult↗

Maternal dietary intake and pregnancy outcome.

OBJECTIVE: To study the relationship between maternal diet and infant anthropometric measurements in 56 women, aged 28 +/- 5.1 years, with singleton pregnancies. STUDY DESIGN: The overall quality of the diet (three 24-hour recalls), including supplementation, was evaluated at 34 +/- 1.3 weeks using a total mean adequacy ratio (TMAR) of 12 nutrients. Specific interviewing techniques were used to minimize social desirability bias. Anthropometric measurements of both parents and maternal lifestyle practices were also obtained. Infant weight, crown-heel length and head circumference were measured 14.6 +/- 4.4 days after birth. RESULTS: Stepwise multiple regression analysis revealed that maternal diet quality (TMAR) was significantly related to infant weight (r = .039, P = .036) and crown-heel length (r = .071, P = .007). Other significant predictors included gestational age, maternal height, sex, smoking and physical activity. CONCLUSION: Maternal diet was positively associated with infant weight and crown-heel length.

Adolescent↗

Evaluation of sheep breeds for early growth in tropical north-east Brazil.

Three breeds of sheep, Brazilian Somali, Morada Nova and Santa Inês which are indigenous to hot tropical semi-arid north-east Brazil were studied for their early growth. There were large breed differences in size at birth, at the 86th day and at 6 months. The Santa Inês was the largest and the Brazilian Somali the smallest. The type of birth (single vs. multiple) had a profound effect on weight at virtually all stages of growth which was similar for male and female lambs. Sex effects tended to become significant at around the 86th day, female lambs slightly outweighing males but marked sex differences appeared around 6 months when males outweighed females. The 7-day variation in age of lambs when the weights were taken around the 15th day had a marked effect on weight and correction for age would be necessary in future studies. However, the 7-day variation in age around the 86th day and thereafter did not affect the weights. The birth weight and weights at the 15th, 86th and 112 days and at 6 months were significantly correlated.

Animals↗

[Results of in vitro fertilization in the Netherlands, 1996-2000].

OBJECTIVE: To describe the annual results in all 13 Dutch in vitro fertilisation (IVF) centres in the period 1996-2000, and to look for possible differences between individual centres and years. DESIGN: Retrospective data collection, description and analysis. METHOD: The results collected on the website of the Dutch Society of Obstetrics and Gynaecology (Dutch acronym: NVOG; www.nvog.nl) in the period 1996-2000 were integrated and described, with special attention to possible differences between centres and years. RESULTS: In 1996-2000 (5 years), 63,414 IVF or ICSI treatment cycles were started in the Netherlands, and 5,884 transfers of cryopreserved embryos were performed. The number of treatment cycles increased over the years, particularly the number of ICSI cycles. The total number of ongoing pregnancies was 12,991 (20.5% per started cycle; 22.5% for ICSI and 18.3% for IVF). Particularly during the first 3 years, there was an increase in these percentages (IVF: from 16.4% (1996) to 19.2% (1998); ICSI: from 18.3% (1996) to 23.9% (1998)). There were differences between the centres in both the percentage of ongoing pregnancies per started IVF/ICSI cycle (range 13.7-25.1%) and the percentage ICSI (14-61%) and cryo-transfers per total number of treatment cycles (0-26%). It was estimated that, during this 5-year period, 1 out of every 61 Dutch neonates resulted from IVF or ICSI. CONCLUSION: The pregnancy-rates after IVF and ICSI increased during the study period, and were comparable with the rates in other European countries. Some important data are still missing from the inventory, for example regarding the number of embryos per transfer, multiple pregnancies, live births, congenital malformations and complications.

Embryo Transfer↗

Increased morbidity in low-birth-weight survivors with severe retrolental fibroplasia.

Fourteen (2.2%) of 645 survivors with birth weight less than or equal to 1500 gm cared for in the Special Care Nursery between 1975 and 1981 were identified as having stage III-IV retrolental fibroplasia (RLF) in one or both eyes. These 14 survivors and 14 controls matched for birth weight have been observed for 2 to 7 years. There were no differences between survivors with RLF and controls in birth weight, gestation, multiple neonatal risk factors, or Hollingshead socioeconomic status. The only significant difference was in prolonged O2 requirements (greater than 2 weeks) (13 of 14 patients vs 7 of 14 control infants (P less than 0.025) and prolonged assisted ventilation requirements (21 +/- 15 for RLF vs 6 +/- 10 days for control infants, P less than 0.05). Follow-up assessments showed that the RLF survivors had a significantly higher incidence of neurologic abnormality, lower developmental quotients, increased requirements for special education, increased number of hospitalizations for illness, and more maternal stress as observed in the mother's adapted Life Experience Survey. We conclude that low-birth-weight infants with stage III-IV RLF are at a higher risk for neurodevelopmental problems and that their families are in need of comprehensive support services.

Child Development↗

Maternal weight gain in second and third trimesters and their relationship with birth weights in Morogoro Municipality, Tanzania.

A prospective study was carried out to determine the relationship between weight gain in the second and third trimesters with the corresponding birth weights in Morogoro, Tanzania. A total of 270 pregnant women who gave birth to singleton deliveries and their consecutive newborns were randomly selected from among women who were attending one antenatal clinic. Average weight gains in second and third trimesters were 2.45 +/- 0.68 and 2.14 +/- 0.43 kg, respectively (a total of 4.59 +/- 1.11 kg) for the two trimesters. Weight gains per week were 0.47 +/- 0.16 and 0.33 +/- 0.13 kg for the second and third trimesters, respectively. Weight gain in the two trimesters was lower than the expected value for the same period. Results from Pearson correlation analysis found a positive correlation (P < 0.001) between birth weight and variables such as maternal age, gestational period, parity, weight gain in both second and third trimester, birth length and sex of an infant. Multiple regression analysis indicated that birth weight (dependent variable) was significantly affected by maternal weight gain in the third trimester, maternal age (both at P < 0.05) and birth length (P < 0.001). The incidence of low birth weight was about 8% and was significantly higher among infants of teenager mothers. It appears that despite of possibility of some physiological adaptations, which tend to protect the foetus when the woman is subjected to inadequate weight gain during pregnancy, weight gains in the second and third trimesters are important in determining the birth weight.

Adult↗