Genetic counseling in a case of Takayasu arteritis

Two cases affected with Takayashu arteritis are presented. The adult probanda born in 1960 after genetic counselling and appropriate prenatal care had a healthy liveborn boy. Her previous six pregnancies were terminated on the basis of forced medical reason. The infant probanda died at the age of 4 months with the features of sudden infant death syndrome (SIDS). Pathohistological examination detected her Takayashu arteritis. It seems to be the youngest published case in the international literature and Takayashu arteritis may be the rare cause of SIDS.     

Is Tourette syndrome a cause of sudden infant death syndrome and childhood obstructive sleep apnea?

The cause of sudden infant death syndrome (SIDS) is unknown. Sleep-related impairment of respiratory control and arousal are postulated; hyperdopaminergic and hyposerotonergic dysfunction may contribute to events leading to infant apnea and SIDS. Psychosocial adversity and impulsive and compulsive behaviors characterize some families of SIDS victims. Tourette syndrome (TS) is a common hereditary neurobehavioral disorder characterized by the frequent presence of impulsive and compulsive behaviors. Sleep disorders are common and include sleep apnea and abnormal arousal. Hyperdopaminergic and hyposerotonergic abnormalities are postulated to contribute to the pathophysiology of the disorder. The following is a report of the presence of incidents of infant apnea and SIDS in families in which TS was present. In an additional TS family, a child had obstructive sleep apnea syndrome (OSAS). Results of a preliminary survey suggest that TS gene carriers are at increased risk of life-threatening apneas of infancy and that the prevalence of SIDS in such families may be 2 to 5 times the prevalence in the general population. The presence in some pedigrees of sleep apnea in children and adults suggest that in some instances disorders of sleep-related ventilatory control and arousal occurring throughout the life-span share common pathophysiological mechanisms.     

Formal retrospective case review and sudden infant death

A review of 24 consecutive sudden infant deaths was undertaken to evaluate the importance of the various stages in the postmortem assessment of such cases. Death in three cases was caused by obvious trauma. Of the remainder, 16 were attributed to sudden infant death syndrome (SIDS), 4 to accidental asphyxia (identified by death scene examination and/or formal case review) and 1 to a lingual thyroglossal duct cyst. Three (14%) of 21 deaths thought to be SIDS after postmortem examination were attributed to asphyxia following subsequent formal case review.     

Gender and the sudden infant death syndrome. New Zealand Cot Death Study Group

A nationwide case-control study compared the prevalence and magnitude of risk factors for sudden infant death syndrome (SIDS) in male and female infants. The risk factors of SIDS and their magnitude for males and females are very similar. After adjustment for potential confounders male infants had a 1.42-fold (95% CI = 1.04, 1.94) increased risk of SIDS compared with females. Risk factors identified in most epidemiological studies are not the reason for the increased SIDS mortality seen in male infants.     

Sudden infant death syndrome: risk factor profiles for distinct subgroups

The authors investigated risk profiles of sudden infant death syndrome (SIDS) as a function of age at death. A case-control study carried out in the Tyrol region of Austria enrolled 99 infants who died of SIDS between 1984 and 1994 and 136 randomly selected controls. Early and late SIDS (< 120 days of age vs. > or = 120 days) were defined according to the clear-cut bimodal age-at-death distribution. Inadequate antenatal care, low parental social and educational level, and the prone sleeping position were risk conditions that applied to both early and late SIDS. A marked seasonal variation (winter preponderance) was the most outstanding feature of late SIDS. A gestational age of < 37 weeks (odds ratio (OR) = 8.4, 95% confidence interval (CI) 2.6-26.0), repeated episodes of apnea (OR = 5.7, 95% CI 1.2-27.0), low birth weight (< 2,500 g) (OR = 3.4, 95% CI 1.1-11.0), a family history of sudden infant death (OR = 2.9, 95% CI 1.1-7.5), and maternal smoking during pregnancy (OR = 2.2, 95% CI 1.0-4.5) were associated with early SIDS. This study identified two distinct subgroups of SIDS infants characterized by different risk conditions and ages at death. These results underline a multiple-cause hypothesis for SIDS etiology which involves a genetic predisposition, immaturity in the first months of life, and environmental factors acting at various ages.     

Travel and changes in routine do not increase the risk of sudden infant death syndrome

We investigated the relationship between travel and changes in routine and the sudden infant death syndrome (SIDS) among 485 SIDS cases compared with 1800 randomly selected control infants. There was no increased risk of SIDS with travel. Special events, such as christenings, were not associated with an increased risk of SIDS. However, visits to and by friends or relatives were associated with a significantly reduced risk of SIDS after controlling for potential confounders (odds ratios = 0.70; 95% confidence interval = 0.52, 0.96). These findings may indicate less social support in SIDS cases.     

Sudden infant death syndrome. A prospective study

One hundred twenty-five sudden infant death syndrome (SIDS) victims followed up since birth from a large prospective study were compared with matched controls. Some of the future SIDS victims showed evidences of neonatal brain dysfunction including abnormalities in respiration, feeding, temperature regulation, and specific neurologic tests. These abnormalities could not be ralated to events in labor or delivery. A greater proportion of the future victims were mildly underweight for gestational age. The gestations that produced the SIDS victims were characterized by a greater frequency of mothers who smoked cigarettes and had anemia. The demographic profile of SIDS families proved to be indentical to the profile for families with excessive perinatal mortality. Many of the SIDS victims showed a retardation in postnatal growth prior to death.     

The unreamed AO femoral intramedullary nail, advantages and disadvantages of a new modular interlocking system. A prospective study of 67 cases

The aim of this study was to investigate associations between sudden infant death syndrome (SIDS) and social factors in the Nordic countries. A case-control study was conducted in Denmark, Norway and Sweden: The Nordic Epidemiological SIDS Study. Parents of 244 SIDS infants and 869 control infants matched on gender, age at death and place of birth filled in questionnaires. The dataset was analysed by conditional logistic regression. In univariate analysis, the following sociodemographic factors were associated with an increased risk of SIDS: low maternal age [odds ratio (OR) 7.8; 2.8-21.5], high birth order (OR 4.4; 2.5-7.5), single motherhood (OR 2.9; 1.7-5.0), low maternal education (OR 4.5; 2.8-7.1), low paternal education (OR 3.0; 1.9-4.7), maternal unemployment (OR 2.4; 1.8-3.4) and paternal unemployment (OR 4.0; 2.7-5.9). In a multivariate analysis where maternal smoking was also included, only paternal unemployment, young maternal age and high birth order remained significantly associated with SIDS. Housing conditions were not associated with SIDS. However, the risk of SIDS was high if the family had lived in their present home for only a few years (OR 2.3; 1.3-4.1). Sociodemographic differences remain a major concern in SIDS in a low-incidence situation and even in an affluent population with adequate health services.     

SIDS cases have increased levels of interleukin-6 in cerebrospinal fluid

Cerebrospinal fluid (CSF) from 20 infants who died of sudden infant death syndrome (SIDS), 7 cases of infectious death and 5 cases of violent death were examined with respect to concentrations of interleukin-6 (IL-6). The measurements were performed by ELISA. IL-6 levels in SIDS were significantly lower than in infectious death (p < 0.02), but significantly higher than in violent death (p < 0.02). Since IL-6 plays an important role in immune responses and may induce fever, the findings may suggest that immune activation plays a role in SIDS. The presence of cytokines in the central nervous system (CNS) may cause respiratory depression, especially in vulnerable infants.     

Relationship of passive cigarette-smoking to sudden infant death syndrome

The smoking habits of 56 families who lost babies to the sudden infant death syndrome (SIDS) were compared to those of 86 control families. A higher proportion of SIDS mothers smoked both during pregnancy (61% vs. 42%) and after their babies were born (59% vs. 37%). SIDS mother also smoked a significantly greater number of cigarettes than controls. Exposure to cigarette smoke ("passive smoking") appears to enhance the risk of SIDS for reasons not known.     

Neurons as well as astrocytes express proteoglycan-type protein tyrosine phosphatase zeta/RPTPbeta: analysis of mice in which the PTPzeta/RPTPbeta gene was replaced with the LacZ gene

Mannan binding lectin (MBL) may be important for innate immunity and some cases of sudden infant death syndrome (SIDS) may be preceded by bacterial infection. Therefore, relative MBL deficiency might be associated with susceptibility to SIDS. We measured MBL concentrations in 46 SIDS infants and 26 controls. The proportion of subjects with low MBL values was similar in the two groups. However, the mean for the SIDS group (3 micrograms/ml) was higher than that of the controls (2.2 micrograms/ml; P < 0.05). We interpret this difference as due to acute phase responses and suggest these findings are consistent with the view that some cot deaths are preceded by bacterial infections.     

Changes in cerebrospinal fluid monoamine metabolites, tryptophan, and gamma-aminobutyric acid during the 1st year of life in normal infants. comparison with victims of sudden infant death syndrome

Cerebrospinal fluid (CSF) levels of 3-methoxy-4-hydroxyphenylglycol, 5-hydroxyindoleacetic acid, homovanillic acid, tryptophan, and gamma-aminobutyric acid were measured using high-performance liquid chromatography in 102 infants during the 1st year of life (preterm and term neonates included). CSF levels are expressed versus corrected age (postnatal days - preterm days) which reflects the stage of maturity of the central nervous system. These results are compared to those obtained in CSF of 53 victims of sudden infant death syndrome (SIDS). All components were significantly higher in SIDS than in the age-matched control group. This increase does not seem to be an artefact related to death. Indeed, under the same conditions concerning postmortem time interval before CSF sampling and analysis, the levels are not significantly higher in infants who died from a known pathology than in living infants. Moreover, in living infants as regards a pathology such as asphyxia or hypoventilation in comparison with SIDS, similar profiles are observed in some neurotransmitters or metabolites. Other studies are necessary to explore further neurotransmission systems in SIDS.     

Tritiated-naloxone binding to brainstem opioid receptors in the sudden infant death syndrome

The sudden infant death syndrome (SIDS) is defined as the sudden death of an infant under 1 year of age that remains unexplained after a thorough case investigation, including a complete autopsy. We hypothesized that SIDS is associated with altered 3H - naloxone binding to opioid receptors in brainstem nuclei related to respiratory and autonomic control. We analyzed 3H - naloxone binding in 21 regions in SIDS and control brainstems using quantitative tissue receptor autoradiography. Three groups were analyzed: SIDS (n = 45); acute controls (n = 14); and a chronic group with oxygenation disorders (n = 15). Opioid binding was heavily concentrated in the caudal nucleus of the solitary tract, nucleus parabrachialis medialis, spinal trigeminal nucleus, inferior olive, and interpeduncular nucleus in all cases analyzed (n = 74). The arcuate nucleus on the ventral medullary surface contained negligible binding in all cases (n = 74), and therefore binding was not measurable at this site. We found no significant differences among the three groups in the age-adjusted mean 3H - naloxone binding in 21 brainstem sites analyzed. The only differences we have found to date between SIDS and acute controls are decreases in 3H - quinuclidinyl benzilate binding to muscarinic cholinergic receptors and in 3H - kainate binding to kainate receptors in the arcuate nucleus in alternate sections of this same data set. The present study suggests that there is not a defect in opioid receptor binding in cardiorespiratory nuclei in SIDS brainstems.     

Implantable hearing devices for sensorineural hearing loss: a review of the audiometric data

BACKGROUND: Child fatality review (CFR) by interagency teams can contribute to the prevention of childhood deaths. We investigated the potential usefulness of Georgia's CFR, legislated in 1990 primarily to prevent death from child maltreatment, for identifying preventable deaths from injury and sudden infant death syndrome (SIDS). METHODS: Using CFR report data and death certificate data, we examined reviewed and nonreviewed childhood deaths in Georgia in 1991 and examined data by etiology, county, risk factors, and preventability. RESULTS: Injury or SIDS caused 33.2% of childhood deaths in Georgia in 1991; CFR reviewed 29.4% of these. Child fatality review was most sensitive for investigating death from intentional injury (40.5%) and SIDS (35.3%). Review teams reassigned the cause of five deaths (2.0%) to child abuse or neglect. County participation was low (31.4%). Overall, 29.0% of deaths were judged preventable. CONCLUSIONS: Georgia's CFR has potential for identifying preventable childhood deaths. Refinements in the system can increase the number and accuracy of death investigations. By participating in the system, physicians may make meaningful contributions to preventing childhood death in their own communities.     

Fetal hemoglobin levels in sudden infant death syndrome

OBJECTIVE: The aim of this study was to determine and compare fetal hemoglobin levels from infants dying of the sudden infant death syndrome (SIDS) with aged-matched control infants dying of other causes. Similar previous studies have reported both elevated and normal levels of fetal hemoglobin in whole blood samples from infants dying of SIDS. DESIGN: Triton-acid-urea gel electrophoresis and densitometry were used to determine fetal hemoglobin levels in postmortem whole blood samples from infants dying of SIDS and from appropriately age-matched control infants. Whole blood samples were analyzed blindly and matched for postgestational age. Infant ages at death ranged from birth to less than 1 year. MAIN OUTCOME MEASURES: Fetal hemoglobin in whole blood from infants dying of SIDS and control infants. RESULTS: During the period of postnatal development most associated with SIDS cases (2 to 6 months after birth), fetal hemoglobin levels were found to be significantly elevated in postmortem whole blood samples from SIDS infants compared with gestational age-matched control infants dying of causes other than SIDS. CONCLUSION: We conclude that levels of fetal hemoglobin are elevated in postmortem whole blood of SIDS infants compared with controls. Furthermore, the apparent conflict in the literature regarding fetal hemoglobin levels in SIDS infants and controls is most likely due to variability in the control data of some studies.     

Ethnic differences in the sudden infant death syndrome: what we can learn from immigrants to the UK

AIMS: To compare the effect of potential maternal and birth factors on rates of sudden infant death syndrome (SIDS) within and between infants born to mothers of different ethnic groups. METHODS: Routinely collected obstetric, child health data relating to 39,101 residents of three East London Districts born in 1989-1990 were obtained. These were matched with 312 death registration records to validate death and add registered cause of death. Mortality rates were calculated in the usual way, and using life-table methods. RESULTS: These related to six ethnic groups, the largest of which were Anglo-European and Bangladeshi. Low birth-weight was the only factor associated with a greater risk of SIDS in all ethnic groups. Maternal smoking was uncommon amongst all Asian groups and African mothers, and rates of SIDS were uniformly low amongst non-smokers in all ethnic groups except Pakistanis. Adjustment for maternal age, parity, gestational age and birthweight would widen the differences between risk of SIDS observed between Anglo-Europeans and Bangladeshi infants. CONCLUSIONS: The study has demonstrated that local data is more timely and of greater detail than that available nationally. Of the risk factors considered, smoking reported during pregnancy is the most commonly encountered and is particularly associated with deaths attributed to SIDS.     

SIDS--a retrospective study in Slovakia

This is an analysis of 102 cases of SIDS from retrospective studies in the Zilina and Senica districts. The incidence of SIDS in the Zilina district was 2.04/1000 (period 1969-1978) and 1.04/1000 (period 1980-1984). The incidence of SIDS in the Senica district was 0.82/1000 (period 1979-1990). According to preliminary results of the epidemiological study of SIDS in Slovakia (1991) the incidence is only 0.89/1000 which amounts, however, to 23.1% of the post-neonatal mortality. In the investigation nine indicators were evaluated: age at the time of death, morbidity before death, place of death, education of mother, position of infant at time of death, birth weight succession of child in family. The assembled results were compared with data in the literature. Because of similar results it is assumed that the following risk factors participate in the incidence of SIDS: age (2-4 months), time between midnight and 6 a.m., low socio-economic status of family, lower education of mother, incidence of SIDS in the family, short interval between childbirths, prone position during sleep, succession of child in family (third or subsequent), effect of smoking. The investigation did not confirm as risk factors a lower birth weight and inadequate postnatal adaptation. In the conclusions some possible ways of prevention are outlined.     

Increased number of substitutions in the D-loop of mitochondrial DNA in the sudden infant death syndrome

The purpose of the present study was to investigate substitutions in the D-loop of mitochondrial DNA (mtDNA) in sudden infant death syndrome (SIDS) and controls, since several observations indicate the involvement of mtDNA mutations in SIDS. These include elevated levels of vitreous humour hypoxanthine in SIDS victims, familial clustering without mendelian traits, and observations of increased sleepiness and a lower activity score in infants who later succumbed to SIDS. Eighty-two cases of SIDS and 133 controls were investigated and the D-loop sequences were recorded in the base-pair range 16055-16500 in the mtDNA sequence. The sequencing was carried out using the Applied Biosystems Sequenase dye terminator method and a ABD373A sequencer. The recorded D-loop sequences were compared with the Cambridge sequence and differences were recorded as substitutions. The SIDS cases had a tendency towards a higher substitution rate in the D-loop than the controls (p = 0.088). This observation makes it interesting to search for deleterious mutations in other locations in the mtDNA.     

Evidence for retarded kidney growth in sudden infant death syndrome

The aim of the study was to compare the growth rate of the kidneys of infants who died of sudden infant death syndrome (SIDS) and control babies under 1 year; 227 infants who died in St. Petersburg from 1983 to 1990 and who met the criteria for SIDS were included in the study; 138 infants who died suddenly of respiratory infections within the same period constituted a control group. The infants did not have signs of dehydration, malformations, tumours or intrauterine infections. Morphologically the kidneys were intact. Factors which might influence the weight of the kidneys at the time of death were: the cause of death (whether SIDS or not), gender, gestational age, weight, length and ponderal index at birth, age, weight and length at death. Stepwise (forward) linear regression analysis identified three variables which in combination most accurately and independently influenced the predicted weight of the kidneys. These were the cause of death, gender and weight at the time of death. The weight of the kidneys increased by 6.0 g for each increase in total body weight of 1,000 g [95% confidence interval (CI) 5.0-7.0 g], in boys the kidney weight was 3.3 g (95% CI 1.6-5.0 g) higher than in girls and in the SIDS babies kidney weight was 2.5 g (95% CI 0.8-4.2 g) less than controls. Delayed kidney growth may be an indicator of increased risk of SIDS in infants under 1 year and may contribute in some cases.     

A record-linkage study on risk factors for cause-specific infant mortality

Infant death certificates were linked with birth certificates for infants born to residents of Tohoku, Tokai and Kyushu regions in 1989 (n = 409, 679, or about one-third of all births in Japan), to examine the effects of variables, as reported on birth certificates, on cause-specific infant mortality. "Certain conditions originating in the perinatal period" and "congenital anomalies" accounted for nearly 90 percent of neonatal deaths, while "congenital anomalies", "injuries and poisoning" and "sudden infant death" were responsible for about 65 percent of postneonatal deaths. Mortality rates for almost all causes of infant deaths, except injuries and poisonings, increased as birth weight decreased not only in the neonatal period but also in the postneonatal period. This suggests that low birth weight places some infants at higher risk of death, and conditions that lead to low birth weight independently contribute to the risk of infant death. Cox's proportional hazards linear model was used to assess the effects of variables on infant mortalities by causes of death. An extremely strong birth weight effect was noted for "certain conditions originating in the perinatal period" and "congenital anomalies". Being a male infant and late order of birth in multiparity were other risk factors for deaths from "congenital anomalies", while being a male infant, resident of Tohoku region and maternal stillbirth experience related to deaths from "certain conditions originating in the perinatal period". Elevated risks of sudden infant death syndrome (SIDS), of which mortality rate in Japan was considerably lower than those in most developed Western countries, i.e. 0.23 per 1,000 live births in 1989, were associated with low birth weight, being a male infant, low maternal age, late order of birth in multiparity and illegitimacy. Low maternal age, late order of birth in multiparity and illegitimacy, also, related significantly to increased risk of infant deaths for "injuries and poisoning". These results suggest the independent contributions of socioeconomic factors to infant mortality, especially postneonatal mortality, from SIDS, "injuries and poisonings".