Antenatal and intrapartum factors associated with the occurrence of seizures in term infant.

To identify antenatal and intrapartum risk factors associated with seizures in term newborns, 40 infants who had seizures within 72 hours of birth were compared with 400 controls using logistic regression analysis. The risk of seizure in the term newborn was approximately one per 1000 in the population studied. The logistic regression model identified a group of infants in whom the risk of seizure was approximately one per 100. The risk factors included in the model were antepartum anemia, antepartum bleeding, asthma, meconium-stained amniotic fluid, presentation other than occiput anterior, fetal distress, and shoulder dystocia. Consistent with other studies, our analysis confirmed a strong association between seizures and factors that increase the risk of fetal asphyxia.

Chronic peroneal tendon subluxation produced by an anomalous peroneus brevis: case report and literature review.

Although congenital anomalies of the peroneal muscles have been well documented from anatomical studies, only a single clinically symptomatic case has been previously reported. In the present report, a previously unreported variation of the peroneus brevis, a bifid peroneus brevis, is described. This variation contributed to chronic subluxation of the peroneal tendons. Diagnosis was made at the time of operation, and resection of the duplicated tendon and reinforcement of the peroneal retinaculum relieved the symptoms of the patient.

Human teratogens, prenatal mortality, and selection bias.

Etiologic inferences on human teratogens are usually derived from case-control studies conducted either at birth or in spontaneous abortion series. Because both teratogens and defects may be associated with an increased risk of prenatal mortality, the possibility exists that selection bias may affect etiologic inferences. The authors derive relations between the true odds ratio (OR) relating a teratogen and a defect at the time of the occurrence of the defect and the apparent odds ratios observed in spontaneous abortion series and at birth, as functions of prenatal mortality. Depending on the pattern of interaction between the teratogen and the defect in affecting the rate of prenatal mortality, selection bias may lead to overestimation or underestimation of the true odds ratio. With increasing multiplicative effects on prenatal mortality, changes in selection bias tend to increase the observed odds ratio in spontaneous abortion series but to decrease the observed odds ratio at birth. For a range of rates of prenatal mortality, weak associations between exposures and defects (OR = 0.3-3) may well be due to selection bias; conversely, weak teratogens (OR less than 3) may be missed in case-control studies of defects conducted at birth. Selection bias due to prenatal mortality must be considered in the interpretation of etiologic studies of birth defects.

Frequency of congenital anomalies in patients with histiocytosis X.

The frequency of congenital anomalies in 39 cases of histiocytosis X collected over a 30 year period was 23%. Through a retrospective chart review of these cases and two control populations (children with bone tumors and children with suspected child abuse) we sought to assess the significance of this finding as well as any special characteristics of those histiocytic patients who had congenital anomalies. The frequency of congenital anomalies in the histiocytosis X group (23%) was greater than the frequency found in our control groups, the bone tumor group (13%), and the child advocacy control group (15%). Considering only major congenital anomalies, the histiocytic population had an increased frequency (18%) relative to both control groups (3% and 8%, respectively). Only one patient with unifocal eosinophilic granuloma had congenital anomalies. Patients with histiocytosis X and congenital anomalies were more likely to have histiocytosis X involving organ dysfunction (lung, liver, hematopoietic). Through this retrospective study we observe an increased frequency of congenital anomalies in patients with histiocytosis X. This observation does not seem to apply to patients with unifocal eosinophilic granuloma. The presence of congenital anomalies, especially multiple congenital anomalies, seemed to be a prognostic indicator of organ dysfunction in our histiocytic population.

[Arterial hypertension syndrome in young persons]. / Sindrom arteria'lnoi gipertenzii u molodykh.

The prevalence and patterns of the hypertension syndrome (AH) in young subjects require further study. An examination of 879 young subjects revealed AH in 14.6 per cent; in 84 inpatients borderline AH was found in 20.2, essential hypertension in 17.9 and symptomatic AH in 61.9 per cent, in 22.6 per cent AH was attended by signs of connective-tissue dysplasia and minor developmental abnormalities (mitral valve prolapse, nephroptosis, pathology of cervical spine, structural disorders of the lid slit and floor of the auricle, etc.). Manifestations of connective-tissue dysplasia and minor developmental abnormalities have a bearing on the AH formation and course in this group of patients. Further detailed study of the AH course in young subjects with these manifestations is required.

Evaluation of severe growth retardation using cordocentesis--hematologic and metabolic alterations by etiology.

Hematologic and respiratory blood gas parameters were studied in 21 fetuses with severe or early-onset (at or before 34 weeks) growth retardation and in 44 age-matched control fetuses. Diagnostic categories included uteroplacental insufficiency (N = 7) and uteroplacental insufficiency with associated fetal structural abnormality (N = 7), aneuploidy (N = 5), and congenital infection (N = 2). The mean (+/- 1 SEM) gestational age was 29.3 +/- 1 week. Compared with the control group matched for gestational age, the growth-retarded fetuses had higher hematocrits regardless of etiology. The platelet count was reduced in growth-retarded fetuses with aneuploidy (P less than .05). Leukopenia was observed in a fetus with congenital infection and in the group of fetuses with uteroplacental insufficiency unassociated with a structural abnormality (P less than .05). Leukocytosis was seen in growth-retarded aneuploid fetuses (P less than .01). The pH, pO2, and percent oxygen saturation were each lower in growth-retarded fetuses with either uteroplacental insufficiency or aneuploidy, and the pCO2 and bicarbonate were higher compared with controls (each P less than or equal to .05). Appropriately grown aneuploid fetuses had normal hematologic and respiratory blood gas measurements but were significantly more likely not to be trisomic (P = .04). Fetuses with uteroplacental insufficiency unassociated with a structural anomaly had significantly higher umbilical artery systolic/diastolic ratios than both the control group (P = .0002) and the group with uteroplacental insufficiency and a structural anomaly (P less than .008). This investigation confirms previous studies of fetuses suffering uteroplacental insufficiency and extends the observations to other etiologies.(ABSTRACT TRUNCATED AT 250 WORDS)

[Anomalies associated with ano-rectal malformations. Apropos of 67 cases]. / Anomalies associées aux malformations ano-rectales. A propos de 67 cas.

Anorectal malformations are accompanied by associated anomalies in about 75%; their frequency and variety influence prognosis and survival rate. All kinds of associated anomalies are possible, but there are some typical combinations (like the Vater-association). In our series of 67 neonates (43 low and 24 high or intermediate atresias) we observed 64% of associated anomalies. They were more frequent in high or intermediate atresias (21 out of 24 cases). A low birth weight which is typical for this group affects the prognosis as well as the associated anomalies. 11 out of our 67 patients (= 16%) died; 11 of these weighed less than 2,500 g, and 3 even less than 1,800 g. Prematurity was the reason for the death of 4 neonates, 7 died because of associated anomalies.

Electron microscopic and Golgi study in a case of hemimegalencephaly.

Pathological findings in a case of hemimegalencephaly are presented. Hemispherectomy, performed because of intractable seizures, allowed an electron microscopic and Golgi study. Glial abnormalities consisted of hyperplasia of glia cells with giant astrocytes often containing several nuclei and proliferation of numerous Rosenthal fibers. Golgi stain showed many giant neurons with a perikaryon covered by perisomatic processes, and a complex dendritic tree. Glial abnormalities could be correlated with the firmness of the hemisphere and intense hypersignal on magnetic resonance imaging. Giant neurons were associated with an increase in size of the perikaryon and dendritic tree; this pattern suggests a polyploidy.

Significance of minor abnormalities in children.

Minor abnormalities reflect problems in prenatal development and can provide useful clues to the presence of major anomalies or developmental problems. In a comparative study, children with Down's syndrome, as expected, had significantly more minor abnormalities than those with other syndromes or major anomalies and those with developmental delay and/or cerebral palsy of unknown etiology. These two groups were not significantly different from each other in the number of minor abnormalities, but both had significantly more abnormalities than the group of normal children.

Contribution of congenital malformation to perinatal mortality in Lagos, Nigeria.

Over a 17-month period we prospectively recorded identifiable congenital malformations at delivery in singleton births in our hospital. Despite the prevailing religious and cultural belief we carried out autopsies in 41% of the perinatal deaths that occurred during the study period. Out of a total of 63 (21/1000 singleton births) congenital malformations discovered, 21 (33%) were identified at autopsy only. About 16% of total perinatal deaths were due to congenital malformation. Cardiovascular malformations accounted for about 40% of perinatal deaths from congenital malformations followed by central nervous system malformation (23.3%), gastrointestinal malformations (20%), musculo-skeletal malformations (6.7%); renal malformations (3.3%) and others (6.7%). No relationship between maternal age, parity and congenital malformation was found. The results from this study suggest that with the use of autopsy, teratology may contribute significantly to the prevailing high perinatal mortality in Lagos more than was previously thought.

PIP: Over a 17-month period identifiable congenital malformations at delivery in singleton births in Lagos, Nigeria were prospectively recorded. Despite the prevailing religous and cultural belief, autopsies were carried out in 41% of the perinatal deaths that occurred during the study period. Out of a total of 63 (21/100 singleton births) congenital malformations discovered, 21 (33%) were identified at autopsy only. About 16% of total perinatal deaths were due to congenital malformation. Cardiovascular malformations accounted for about 40% of perinatal deaths from congenital malformations followed by central nervous system malformation (23.3%), gastrointestinal malformations (20%), musculo-skeletal malformations (6.7%); renal malformations (3.3%), and others (6.7%). No relationship between maternal age, parity, and congenital malformation was found. The results from this study suggest that with the use of autopsy, teratology may contribute significantly to the prevailing high perinatal mortality in Lagos more than previously thought. Detailed and systematic studies of causes of high perinatal deaths in the developing countries would help in focusing attention on important areas of perinatal health so that the dwindling governmental health votes could be judicously and effectively utilized.

Dysmorphic syndromes with demonstrable biochemical abnormalities.

Many inborn errors of metabolism are associated with dysmorphic manifestations. In this review, we have attempted to correlate the dysmorphic features with the underlying metabolic defect or its consequences. Most of the defects which we have discussed affect the synthesis or degradation of macromolecules (for example, collagen, elastin, bone mineral, proteoglycans, glycoproteins, and triglycerides). Such defects may affect either a single enzyme or multiple enzymes in specific organelles, such as lysosomes or peroxisomes, or they may affect hormonal control of synthesis and degradation. Examples are also included of defects affecting the catabolism of simple molecules when accumulating metabolites have a secondary effect on macromolecules, as in homocystinuria. In a number of instances, however, the correlation between the biochemical abnormality and the dysmorphic features are not understood. Ultimately, all dysmorphic syndromes will be attributable to a biochemical defect or its effects. The aim of this overview is to provide an insight into the relationship between the two at the present time.

Congenital malformations and intrauterine growth retardation: a population study.

The relationship between congenital malformations and intrauterine growth retardation was investigated using data from the population-based Metropolitan Atlanta Congenital Defects Program. Between 1970 and 1984, the system ascertained 13,074 infants with major structural malformations diagnosed in the first year of life and born to metropolitan Atlanta residents. These infants were classified as having intrauterine growth retardation if their birth weight was below the race-, sex-, and gestational age-specific tenth percentile limits for all Atlanta births. Overall, the frequency of intrauterine growth retardation among malformed infants was 22.3% (relative risk 2.6). Of 48 defect categories evaluated, 46 were associated with excess intrauterine growth retardation, most notably chromosomal anomalies (eg, 83.7% for infants with trisomy 18, relative risk 46) and anencephaly (73.3%, relative risk 25). Only a few isolated defects (such as isolated polydactyly, pyloric stenosis, and congenital hip dislocation) were not associated with excess intrauterine growth retardation. Among infants with multiple malformations, the frequency of intrauterine growth retardation increased markedly with increasing number of defects--from 20% for infants with two defects to 60% for infants with nine or more defects. The relationship between malformations and intrauterine growth retardation can be explained by one or more of three mechanisms: (1) intrauterine growth retardation can be a secondary disturbance to the presence of malformations; (2) intrauterine growth retardation can predispose the fetus to malformations; and (3) intrauterine growth retardation can coexist with malformations because of common etiologic factors.(ABSTRACT TRUNCATED AT 250 WORDS)

Prenatal and perinatal risk factors for neuroblastoma. A case-control study.

Neuroblastoma is the most common neoplasm in children less than 1 year of age and has one of the earliest incidence peaks of all childhood cancers. Using birth registration data, a matched case-control study was undertaken to investigate potential prenatal and perinatal risk factors. Ninety-seven neuroblastoma patients who were born in Minnesota were matched with four controls each. No associations were identified for sex, race, parental age, parental education, complications of pregnancy, labor, or delivery, or the previously reported factors of birth weight greater than 4000 g or gestational duration of 36 weeks or less. In 6.6% of the cases and 0.8% of the controls, physical anomalies were noticed before discharge from the newborn nursery. Of the six anomalies reported in the cases, four were found to be the tumor itself or a complication of it. A significant protective effect (odds ratio (OR), 0.47) was noticed for a maternal history of previous fetal loss. Future studies, including biologic markers and stage stratification, may yield more insight into the cause of this disease.

Accuracy of ultrasound diagnoses in pregnancies complicated by suspected fetal anomalies.

Referral of pregnancies complicated by suspected fetal anomalies to level III perinatal centres for further evaluation and management is increasing as use of real-time ultrasound spreads, but the sensitivity and specificity of the prenatal diagnoses made in this population are unknown. We undertook a prospective study that followed pregnancies referred to a designated programme dealing with suspected fetal abnormalities. Follow-up of 257 pregnancies revealed that 282 separate anomalies were accurately diagnosed in 212 cases. Normal anatomy was correctly predicted in 42 cases, 16 per cent of the referred population. False-positive and false-negative rates were 1.5 per cent (4/257) and 2 per cent (1/46), respectively. However, 37 per cent of those infants born with anomalies had additional problems not prenatally detected by ultrasound. These results indicate that prenatal ultrasound diagnoses are remarkably accurate overall but that they may be insensitive to associated anomalies in individual cases.

Induction and maintenance of swallowing responses in infants with dysphagia.

A treatment package was used to induce and maintain swallowing with three infants who did not swallow food or liquid. Prior to treatment, they received all nutrition and hydration via gastrostomy tube feedings. The treatment package consisted of least-to-most intrusive physical prompts, an eliciting stimulus, contingent social reinforcement, and repeated trials to induce and maintain swallowing. The design combined elements of reversal and changing criterion designs for all three infants. The package was applied across feeding devices (nipple, cup, spoon), situations (liquid, pureed foods), and persons (trainer, primary nurses, mothers). The number of swallows or ounces per feeding (from 0 to 8 ounces) and the number of feeding sessions per day (from one to five) were progressively increased. In each case, the infant received baseline conditions alternated with the treatment package. Follow-up probes were done at 15 months, 21 months, or 24 months, respectively, after the last phase for the three patients. The package was successful in that the gastrostomy tube was no longer needed for Patients 1 and 3. Patient 2 maintained functional swallowing responses but received supplemental gastrostomy feedings because of unrelated medical problems. Results are discussed in terms of the need to isolate components of the package. The package can be used in cases in which the preexisting treatments (reinforcement with preferred foods, force-feeding) are not feasible because of age, physical fragility, or the lack of a swallowing response following the presentation of food.