Abstract: OBJECTIVES: This study examines the association between social relationships and health-related quality of life (HRQL) in the elderly in Lazio Region, Italy, a Mediterranean country where the shape and role of social links has dramatically changed. METHODS: Data were extracted from a national cross-sectional survey in Italy, representative of the non-institutionalised population aged 60 years and over resident in Lazio Region during 1999--2000. HRQL was measured with the Short Health Survey Questionnaire (SF-12). Data analysis was performed using multiple linear regression models using adjustment for the main confounders. RESULTS: Among the sample, 40.4% of the elderly were not married and 27.1 % were living alone. While being married and not living alone were associated with higher scores in the physical and mental quality-of-life components (P-value<0.001), more frequent visiting/seeing friends was likely to be associated with higher scores in both the physical and the mental health components (P-value<0.05). Multiple logistic regression analysis demonstrated that low physical health scores were associated with a low frequency of meeting with relatives and with living far from relatives. CONCLUSIONS: In a region covering 9.2% of the whole Italian population, only a small proportion of the elderly lack frequent social ties, yet low frequency of relationships with friends is associated with a decline in quality of life measured through mental and physical scores. Our findings will be useful for drawing up welfare strategies both at the national and at the Mediterranean level, in countries, like Italy, where the primacy of family support of the elderly has been decreasing in recent years.
Abstract: BACKGROUND: The aim of this study is to investigate the association between social relationships and Health Related Quality of Life (HRQL) among the elderly in Italy. METHODS: A sample of 33,744 Italian residents, representing the non-institutionalised population aged 60 years and over was extracted from the national ISTAT cross-sectional survey during 1999-2000. HRQL was measured with the SF-12, from which the Physical Component Score (PCS) and Mental Component Score (MCS) were obtained. Data were subjected to descriptive analysis and multiple logistic regression models with adjustment for the main confounders. RESULTS: Our analysis shows a gradient in PCS and MCS among the terziles in seeing/meeting "friends" and "family" and, for PCS, a North-South gradient among the Italian regions. Females, the elderly who reported a lower household income, those who spent less time in recreational and religious activities, who lived too far from their relatives and had few relationships with friends and relatives, were significantly less likely to have an MCS above the median value. For PCS, an increase in HRQL was likely to be associated with a higher educational level, while lower PCS scores were associated with: age 75+, inadequate household income, unmarried status, infrequency of seeing/meeting friends, too high a mean distance from own home to relatives' homes, lack of leisure time spent in recreational activities, living in the Centre-South of Italy, chronic diseases, reduced autonomy, and use of drugs during the previous two days. Significant interactions between suffering from one chronic disease and the use of drugs were also found for both MCS and PCS. CONCLUSION: Some dimensions of social relationships were significantly associated with HRQL. These findings are crucial for devising welfare strategies at both the regional and the European level, i.e. in countries such as Italy where the primacy of family support of the elderly has declined in recent years.
Abstract: OBJECTIVE: to analyse the relationship between socioeconomic factors and the prevalence at birth of a selected group of congenital malformations (CM): neural tube defects (NTD), orofacial clefts (OFC), Down syndrome (DS). DESIGN: matched case-control study. The aim of the study was to compare the parental socioeconomic status of 485 children affected by one of the selected congenital malformations with an appropriate control group, using both a synthetic index, as well as comparing each socioeconomic characteristic. Socioeconomic measures included maternal and paternal education and employment. SETTING: Delivery certificate database from 18 Italian regions, years 2002-2003. MAIN OUTCOME MEASURES: odds ratio (OR) measuring the association between the presence at birth of specific CMs and socioeconomic factors, estimated through logistic regression models. RESULTS: the study showed a higher risk for NTD (OR 2.73; 95% CI 1.36-5.50) and OFC (OR 1.18; 95% CI 1.05-1.33)for parents in a low social class. As well, the estimated risk of DS is slightly higher, though not statistically significant (OR 1.08; 95% CI 0.98-1.19). Among the socioeconomic variables taken into consideration, the mother's education level represented a significant risk factor associated with OFC occurrence. CONCLUSION: the results suggested that the socioeconomic level may represent a selective risk factor for specific CMs, confirming the role that social inequalities have on health, in particular on reproductive health. Such evidences should be considered when programming specific actions aimed at preventing congenital malformations.
Abstract: Aim of the study was to detect the prevalence of hypertension among 11-14 years old schoolchildren (n. 487, mean age 12.7 +/- 0.9). The influence on blood pressure (BP) of body mass index (BMI), dietary habits (frequency of breakfast and food items consumption) and life-style was also investigated. Hypertension was defined according to blood pressure tables for children and adolescents of the NIH-Fourth Report (systolic and diastolic BP >95th percentile for age and sex). Overweight and obesity were determined according to the International Obesity Task Force Dietary habits and life-style were investigated by specific questionnaires. The prevalence of overweight and obesity was respectively 31.8% and 10.3% of the subjects studied. Moreover 10.3% of them showed BP values between 90th and 95th percentile and 10.1% was hypertensive. In general the prevalence of overweight (p < 0.05), obesity (p < 0.001) and sedentary activity (p < 0.05) was higher in hypertensive adolescents. The multivariate logistic regression analysis showed a direct association between obesity (OR = 4.35; IC 95% = 2.24-8.44), sedentary life-style (OR = 2.38; IC 95% = 1.17-4.63) and hypertension. Food habits were not associated with BP levels. The results confirmed that an increase of cardiovascular risk in early age was correlated with the increase of the prevalence of obesity and sedentary life-style. Regular measurement of BP together with healthy dietary and life-style indications are recommended to overweight/obese children and adolescents.
Abstract: Neonatal hearing loss is the most frequent sensorial congenital defect in newborns. No data are available on worldwide prevalence of congenital deafness. World Health Organization (WHO) data indicate 1-4 cases per 1000 individuals, with a considerable increase in developing countries. A prevalence exceeding 1 per 1000 however, indicates a serious public health problem calling for urgent attention. Aim of the study was the evaluate the prevalence of prelingual deafness in the Italian population and determine the socio-demographic characteristics of the condition. Data were provided by the National Institute of Social Insurance (INPS) and the Italian Central Statistics Institute (ISTAT) and were collected in 18 out of the 20 Italian regions (98.2% of total population). All subjects recognized as deaf-mute by a special medical committee were included. According to law No. 509/1988, they had to present a mean bilateral sensorineural-hearing impairment, detected in neonatal age, which caused the damage in speech development and equal to 60 dB or more for 500-, 1000- and 2000-Hz frequency tones in the better ear. Prevalence rates were calculated according to region and age bracket using updated population data from census 2001. Statistical analyses were performed using the SPSS statistical software package. A total of 40,887 cases of prelingual profound sensorineural hearing loss > or =60 dB were detected in Italy in 2003, for a total prevalence rate of 0.72 per 1000. The hearing impairment prevalence differs according to sex. The overall prevalence is 0.78 per 1000 for males and 0.69 per 1000 for females (p < 0.001). The hearing impairment prevalence differs according to region of residence (p < 0.001). The geographic distribution of prelingual deafness was found to be: North 15,644 cases (0.63 per 1000), Central Italy 7111 cases (0.64 per 1000), South and Islands 18,132 (0.87 per 1000). The prelingual hearing loss is highly prevalent in South Italy (Basilicata, Calabria and Sicily). For the southern regions of Italy, the rate observed in the 50-64 and >64 age groups reached 1.27 and 1.15, respectively. This phenomenon may have been due, in part, to the epidemic incidence of maternal rubella which occurred in the 40's and 50's (in Italy, the rubella vaccination was only recommended starting from 1972), and, in part, to the habit of contracting consanguineous marriages. Data from the Vatican Archives on 520,492 consanguineous marriages, for which dispensation was requested in the period 1911-1964, indicate that in the years 1935-1939, in small villages in South Italy (Basilicata, Calabria, Sicily) consanguineous marriages accounted for over 40% of marriages.
Abstract: Recent observations support the hypothesis that inflammatory processes at the brain level may contribute to the pathogenesis of Alzheimer's disease (AD). Peroxisome proliferator-activated receptor gamma (PPAR-gamma) is involved in such processes, so we thought it interesting to study the Pro12Ala polymorphism in exon 2 of the gene in a sample of late-onset AD patients. We found that Ala genotypes were significantly overrepresented among octogenarian patients compared to controls (p=0.034). Using logistic regression we observed that carrying the Ala allele significantly increased by nearly two-fold the risk of developing AD in subjects 80 years or older (OR=1.98; 95% CI 1.03-3.80, p=0.04). Though this difference was borderline significant after correction for multiple comparisons, our results suggest a possible involvement of the PPAR-gamma gene in susceptibility to late-onset AD in octogenarians.
Abstract: AIM: The aim of this study was to investigate the prevalence of overweight/obese and hypertensive roman adolescents belonging to a medium-low social environment. The purpose of this research was also to find out the correlations between high blood pressure and obesity, dietary habits and physical activity. METHODS: Nutritional status of 474 subjects (age 12.7+/-0.9 years) of a low-medium social class public school was assessed by measuring height, weight and waist circumference according to international indications. Over-weight and obesity were defined by body mass index (BMI) according to International Obesity Task Force (IOTF). Blood pressure (BP) was measured in duplicate and hypertension was defined by international percentiles. Food habits and lifestyle were investigated by a questionnaire. Multivariate logistic regression was used to relate variables. RESULTS: The prevalence of overweight and obese adolescents was respectively 31.7% and 10.3% with a slight higher presence of males in both cases. The whole sample showed a prevalence of hypertension of 10.1%. Systolic and diastolic BP showed a direct association with BMI and waist circumference (P<0.01). BMI and systolic and diastolic BP were lower in active students (>7 h a week of physical activity). Food habits were not associated with hypertension. CONCLUSIONS: The high prevalence of hypertensive adolescents could be explained with the consistent number of overweight/obese subjects, their social medium-low context and their being sedentary. As reported in literature, all these factors may contribute to the ''metabolic syndrome'' aetiology.
Abstract: One univocal definition for nutritional status (NS) does not exist. One set of generally accepted standards for assessing the nutritional status does not exist, either. The NS assessment is absolutely necessary because it drives to identify malnutrition which is a potential cause and or an aggravation of morbidity and mortality. Since malnutrition shows a high prevalence in the elderly, literature about the validation of tools exploring single or complex NS parameters in the elderly has been systematically review. 115 papers, published from January 1st 1990 to July 31st 2003, have been identified: among them, just 9 complied with the established quality criteria and were suitable to be systematically reviewed. Parameters and diagnosis protocols to assess NS used in the selected papers were not homogeneous. Two implications arise from this evidence: - as regards clinical practice: an assessment on NS in clinical practice is complex, but not impossible. Hopefully, despite the absence of a sure reference, nutritionists, during their own clinical practice, ought to choose a validated on their own population and complete tool (considering as NS indicators both dietetic, anthropometric and functional parameters) for NS assessment, among all the redundant set of tools proposed until now; - respecting a scientific point of view, there is the necessity for calling a consensus conference in order to establish an initial consensus to diagnose malnutrition in the elderly and to promote, therefore, a validation study.
Abstract: BACKGROUND: Various risk factors influence the development of Alzheimer's disease (AD). Apolipoprotein E (APOE) e*4 allele has a major role in AD susceptibility and its presence reduces age at AD onset. APOE is also thought to influence human reproduction, and common APOE genotypes seem to be associated with differential fertility. With this study, we investigated possible relationships between APOE genotype, past fertility, and AD onset age. METHODS: APOE genotypes were determined in a sample of 176 women with sporadic AD. The number of children each woman had delivered was recorded. RESULTS: A comparison of APOE genotype distribution in parous and nulliparous AD women confirmed that the e*3/e*3 genotype is associated with higher fertility and the e*4-carrying genotypes with lower fertility. When the combined effects of fertility and APOE genotypes on AD onset age were analyzed, parity was found to be associated with a significantly lower AD onset age (73.8 +/- 6.2 years) than nulliparity (80.7 +/- 5.0 years; p = 0.0007) among subjects carrying e*3/e*3 and e*3/e*2 genotypes. A similar effect was absent among e*4 carriers. Considering the high frequency of e*3/e*3 plus e*3/e*2 genotypes in Europe (range: 63-87%), past fertility may influence AD onset age in many women. CONCLUSION: Past fertility may have a relevant effect on AD onset age and this effect is influenced by APOE genotype.
Abstract: Dieker and Opitz in 1969 described the simultaneous occurrence of limb deficiencies (LDs) and renal anomalies (RAs) in three patients. Curran and Curran introduced in 1972 the term "acrorenal syndrome." Since then, the term "acrorenal syndrome" is used occasionally, but a well-circumscribed definition has never been established. On the other hand, the concept of an acrorenal polytopic developmental field defect was postulated by Opitz and others to explain the association between RAs and LDs. We undertook this study to investigate whether this acrorenal "syndrome" could be identified in a large group of cases with congenital RAs and a limb deficiency. Eleven birth defect registries that are part of the International Clearinghouse for Birth Defects Monitoring (i.e., registries of ICBDMS in Finland, France [Paris and Strasbourg], Israel, Italy [IPIMC and Emilia Romagna], Mexico, Northern Netherlands, South America, Spain, and the United States [Atlanta]) provided data on 815 infants who had a LD and at least one other major congenital anomaly. These 815 cases were ascertained among 5,163,958 births. We selected the 197 cases who had both a limb deficiency and a renal or urinary tract anomaly. In about 50% of these cases a diagnosis or a recognized phenotype was reported, with chromosomal aberrations and VACTERL being most frequent. In the group with no diagnosis or recognized phenotype (95 cases), we looked for (a) clustering of specific types of LDs and RAs, and (b) for clustering of associated anomalies, in order to find evidence for and be able to define better the term "acrorenal syndrome." Our data suggest that an association exists between LDs and RAs, possibly explained by the concept of the acrorenal polytopic developmental field defect. However, our dataset does not yield evidence for the existence of one distinct "syndrome," defined as a pattern of causally related multiple anomalies. Therefore, use of the term "acrorenal syndrome" should be avoided. Copyright 2004 Wiley-Liss, Inc.
Abstract: The housework exposes to the risk of musculoskeletal disorders, which may appear as disabling diseases, both temporary and permanent ones. To evaluate the epidemiology of the phenomenon a retrospective survey was conducted by administering a mail questionnaire to a sample of 1,000 families residing in the whole national territory. The participation rate was 31.7%. Among respondents 20.5% reported spinal pain, 65.6% of them with continuous pains (41.4% assumed pain-killer drugs). 37.0% of the interviewed persons reported to disorders in upper limbs. It was analysed the association between the presence of disorders and the frequency in making some housework duties. Washing clothes (OR=1.8; C.I. 95%: 0.6-4.5), making beds (OR=1.5; C.I. 95%: 0.2-13.1), and taking care of pets (OR=1.4; C.I. 95%: 0.6-3.4) were associated, even if not in a statistically significant way, with the presence of spinal pain. Upper limbs disorders were associated with duties naturally related to such a disorder, like washing dishes (OR=4.6; C.I. 95%: 1.3-16.5), cleaning clothes (OR=3.1; C.I. 95%: 1.3-7.0), cleaning up carpets (OR=2.3; C.I. 95%: 1.3-3.9). To assist the relatives in state of need was identified as risk factor for both the body areas (OR=2.9; C.I. 95%: 1.2-6.7 for the spine, OR=2.6; C.I. 95%: 1.3-5.2 for upper limbs), putting in evidence the physical stress attributable to the duty. The exact identification of the typology of housework which can induce musculoskeletal disorders, and the level of related risks, are essential information to devise campaigns and protocols of health education aimed at the prevention of chronic pathologies caused by the housework.
Abstract: OBJECTIVE: To validate the percentage of time spent below a target value of spontaneous expiratory minute ventilation (< 125 ml/min per kg) during a 2-h period of continuous positive airway pressure (CPAP) via an endotracheal tube (ETT) as a predictor of failed extubation in preterm infants. METHODS: Forty-one infants intubated for at least 24 h, with birth weight between 500 and 1000 g, who were clinically stable and at ventilator setting compatible with an extubation attempt, were studied during a 2-h period of ETT CPAP. Dynamic lung compliance and total lung resistance were measured during a period of quiet breathing, while tidal volume (Vt), respiratory rate and the corresponding spontaneous expiratory minute ventilation values were calculated for the complete recording period of 2 h using a customized computer program. The time each patient spent below the target spontaneous expiratory minute ventilation value was reported as a percentage of the total recorded time (% spontaneous expiratory minute ventilation < 125 ml/min per kg). Extubation failure was defined as the need for reintubation within 72 h. RESULTS: Eleven out of 41 babies (26.8%) experienced failure of extubation (failure group) while 30 infants (73.2%) were successfully extubated (success group). There were no significant differences in dynamic lung compliance and lung resistance between the two groups, but the mean values of respiratory rate and spontaneous expiratory minute ventilation were significantly lower in the failure group than in the success group: 43 (37-56) breaths/min and 240 (160-353) ml/min per kg vs. 53 (28-67) breaths/min and 309 (223-434) ml/min per kg, respectively (p = 0.0129 and p = 0.0039). Moreover, the babies in whom extubation failed spent a longer time below the target value of spontaneous expiratory minute ventilation when compared with successfully extubated babies (p < 0.0001). Percentage of time spent with spontaneous expiratory minute ventilation < 125 ml/min per kg had a larger area than transcutaneous (Tc)PCO2, TcPO2 and pulse oxymetry saturation (SpO2) under the receiver operator characteristic curves. CONCLUSION: The measurement of spontaneous expiratory minute ventilation prior to extubation could be useful in identifying those babies who are not ready for spontaneous ventilation.
Abstract: OBJECTIVE: The aim of this study is to verify, in a sample of elderly subjects admitted to long-term care, the impact of malnutrition, according to the Mini Nutritional Assessment (MNA), on mortality and on the occurrence of Adverse Clinical Events in a 3-12 months follow-up study. SUBJECTS: The survey included all patients admitted to a geriatric hospital--"Villa delle Querce", Nemi (Rome, Italy)--between January 1997 and April 2000, whose nutritional status we were able to monitor for over 3 months. The study comprised 167 elderly subjects, of which 125 women (74.9%) aged 83.3 8 years (60-95 years), and 42 men (25.1%) aged 79.6 9 years with an average follow-up period of 7.5 months. METHODS: Upon admission and at every check we evaluated each subject's cognitive functions, functional status, co-morbidity, frailty, nutritional status (anthropometric and biochemical indices; MNA). During the follow-up we recorded Adverse Clinical Events. We calculated the predictive value of MNA, we correlated variations in MNA scores with variations of nutritional parameters. RESULTS: MNA's predictive ability both upon admission and upon discharge was found to be excellent. The MNA score was found to be correlated-although not to a very high degree-with variations nutritional parameters. Even more than malnutrition, a low MNA score was found to be predictive of a greater incidence of Adverse Clinical Events during hospitalisation and of higher mortality.
Abstract: BACKGROUND: The possible association between oral cleft in the newborn and maternal exposure to corticoids during pregnancy is still controversial. The aim of this study was to test this association by a case-control analysis using the large multicentric MADRE database. METHODS: The MADRE database is a collection of information on malformed infants with a history of maternal first-trimester drug exposure. Nine malformation registries participate in the data collection. Cases were defined as infants presenting with a cleft palate or cleft lip, and exposure was defined by the use of corticosteroids during the first trimester of pregnancy. RESULTS: After 12 years of data collection, the database includes data on 11,150 malformed infants. A slight association is observed between exposure to corticoids for systemic use and the occurrence of cleft lip with or without cleft palate (OR, 2.59; 95% CI, 1.18-5.67). CONCLUSIONS: If the observed association is real, an interpretation is suggested, based on a likely interaction between corticosteroids and environmental dioxins. It is indeed possible that human fetuses may become sensitive to the teratogenic effect of corticosteroids when they are exposed in utero to environmental pesticides as well.
Abstract: In humans, unpaired organs are placed in a highly ordered pattern along the left-right axis. As indicated by animal studies, a cascade of signaling molecules establish left-right asymmetry in the developing embryo. Some of the same genes are involved also in limb patterning. To provide a better insight into the connection between these processes in humans, we analysed the symmetry of limb deficiencies among infants with multiple congenital anomalies. The study was based on data collected by the International Clearinghouse for Birth Defects Monitoring Systems (ICBDMS). Registries of the ICBDMS provided information on infants who, in addition to a limb deficiency, also had at least one major congenital anomaly in other organ systems. We reviewed 815 such cases of which 149 cases (18.3 %) were syndromic and 666 (81.7 %) were nonsyndromic. The comparisons were made within the associated limb deficiencies, considering the information on symmetry, using a comparison group with malformations associated not involved in the index association. Among the non-syndromic cases, the left-right distribution of limb deficiencies did not differ appreciably between limb deficiency subtypes (e.g., preaxial, transverse, longitudinal). The left-right distribution of limb anomalies did not differ among most types of non-limb anomalies, though a predominance of left-sided limb deficiencies was observed in the presence of severe genital defects - odds ratio [OR], 2.6; 95 % CI, 1.1-6.4). Limb deficiencies (LDs) were more often unilateral than bilateral when accompanied by gastroschisis (OR, 0.1) or axial skeletal defects (OR, 0.5). On the contrary, LDs were more often bilateral than unilateral when associated with cleft lip with or without cleft palate (OR, 3.9) or micrognathia (OR, 2.6). Specifically, we found an association between bilateral preaxial deficiencies and cleft lip, bilateral amelia with gastroschisis and urinary tract anomalies, and bilateral transverse deficiencies and gastroschisis and axial skeleton defects. Of 149 syndromic cases, 62 (41.6 %) were diagnosed as trisomy 18. Out of the 30 cases of trisomy 18 with known laterality, 20 cases were bilateral. In the remainder the right and left sides were equally affected. Also, in most cases (74.4 %) only the upper limbs were involved. In conclusion the left-right distribution of limb deficiencies among some non-limb anomalies may suggest a relationship between the development of the limb and the left-right axis of the embryo.
Abstract: Adequate quantification of weight and stature is essential in order to determine levels of nutritional support and to monitor the effects of nutritional intervention. Traditional anthropometric techniques are difficult to apply in elderly or handicapped patients chair or bed-bound. The purpose of the present study is to elaborate regression equations for the estimation of stature in the italian elderly population from other anthropometric measures that can be more easily determined. We have found a single model valid for both sexes (in which the value of the variable "sex" equals 0 if woman and 1 if man) to predict stature in italian elderly: Stature = 94.87 + 1.58 knee-height - 0.23 age + 4.8 sex. Cross validation on a control sample of 30 males and 54 females yielded pure errors of 3.1 cm for men and 2.74 cm for women.
Abstract: STUDY OBJECTIVE: To provide an international perspective on the impact of congenital anomalies on infant mortality from 1950 to 1994. DESIGN: Population-based study based on data obtained from vital statistics reported to the World Health Organisation. SETTINGS: 36 countries from Europe, the Middle East, the Americas, Asia, and the South Pacific. RESULTS: On average, infant mortality declined 68.8 per cent from 1950 to 1994. In the countries studied, infant mortality attributable to congenital anomalies decreased by 33.4 per cent, although it recently increased in some countries in Central and Latin America and in Eastern Europe. Anomalies of the heart and of the central nervous system accounted for 48.9 per cent of infant deaths attributable to congenital anomalies. During 1990-1994, infant mortality attributable to congenital anomalies was inversely correlated to the per capita gross domestic product in the countries studied. At the same time, the proportion of infant deaths attributable to congenital malformations was directly correlated with the per capita gross domestic product. CONCLUSIONS: Congenital malformations account for an increasing proportion of infant deaths in both developed and developing countries. Infant mortality attributable to congenital anomalies is higher in poorer countries although as a proportion of infant deaths it is greater in wealthier countries. Conditions such as spina bifida, whose occurrence can be reduced through preventive strategies, still cause many infant deaths. The apparent increase of infant mortality because of congenital anomalies in some countries should be investigated to confirm the finding, find the causes, and provide prevention opportunities.
Abstract: Although limb defects associated with other congenital anomalies are rarely studied, they may provide insights into limb development that may be useful for etiologic studies and public health monitoring. We pooled data from 11 birth defect registries that are part of the International Clearinghouse for Birth Defects Monitoring Systems. We identified 666 infants, born from 1983 through 1993, who had a non-syndromal limb defect plus at least one other major malformation (rate 12.9/100,000 population). We used observed/expected ratios and log-linear models to detect association patterns. We found that specific limb defects occurred with relatively distinct sets of malformations. Preaxial limb defects occurred more frequently with microtia, esophageal atresia, anorectal atresia, heart defects, unilateral kidney dysgenesis, and some axial skeleton defects; postaxial defects with hypospadias; transverse defects with craniofacial defects, micrognathia, ring constrictions, and muscular defects; intercalary defects with omphalocele; split hand/foot with encephalocele; and amelia with anorectal atresia, omphalocele, severe genitalia defects, unilateral kidney dysgenesis, gastroschisis, and ring constriction. Log-linear modeling identified higher order associations among some of these same malformations.
Abstract: SUMMARY: PURPOSE: The study goal was to assess teratogenic effects of antiepileptic drugs (AEDs) through the use of a surveillance system (MADRE) of infants with malformations. METHODS: Information on all malformed infants (1990-1996) with maternal first-trimester drug exposure was collected by the International Clearinghouse for Birth Defects and Monitoring Systems (ICBDMS). Cases were defined as infants presenting with a specific malformation, and controls were defined as infants presenting with any other birth defect. Exposure was defined by the use of AEDs during the first trimester of pregnancy. The association of AEDs with malformations was then estimated by calculating the odds ratios with 95% confidence intervals and testing their homogeneity among registries. RESULTS: Among 8005 cases of malformations, 299 infants were exposed in utero to AEDs. Of those exposed to monotherapy, 65 were exposed to phenobarbital, 10 to methylphenobarbital, 80 to valproic acid, 46 to carbamazepine, 24 to phenytoin, and 16 to other AEDs. Associations were found for spina bifida with valproic acid. Infants exposed to phenobarbital and to methylphenobarbital showed an increased risk of oral clefts. Cardiac malformations were found to be associated with phenobarbital, methylphenobarbital, valproic acid, and carbamazepine. Hypospadias was associated with valproic acid. Porencephaly and other specified anomalies of brain, anomalies of face, coarctation of aorta, and limb reduction defects were found to be associated with valproic acid. CONCLUSIONS: Using the MADRE system, we confirmed known teratogenic effects of AEDs. We also found increased risks for malformations that had never been reported associated with AEDs or for which the association was suggested by case reports.
Abstract: More and more citizens urge public health authorities to investigate reports of disease excess in their neighbourhood. These environmental concerns are legitimate and it is part of good public health practice to respond to these complaints. However, the methodological and practical problems are severe and a lot of controversy exists about the usefulness of these investigations. To clarify the possibilities and limitations in this situation, this paper proposes a typology of cluster studies. According to this framework, cluster response is distinguished from two other types of cluster studies: Cluster monitoring. screening proactively for clusters to act as an early warning system, and cluster research, scrutinizing clustering to generate and test aetiological hypotheses. To each of these three types of cluster studies corresponds a different public health context; respectively public health action, public health surveillance and public health research. Probably, part of the controversy mentioned stems from not acknowledging sufficiently the corresponding intrinsic differences in rationality and practical constraints. Cluster response is crisis management and not scientific research. In a relatively short time, an informed decision should be taken by a multidisciplinary team of experts using readily available information and knowledge. In accordance with this point of view, cluster reports should be handled stepwise and the role of statistics is to quantify a cluster exploring different points of view as an input to the decision process.
Abstract: Data provided by nine registries based in European and Latin America countries were analyzed to assess whether there is an excess of malformations in twins compared to singletons. Specific congenital malformations were coded according to the ninth revision of the International Classification of Diseases (ICD). Malformation rates and rate ratios (RR) for twins compared to singletons were calculated for each registry, and the homogeneity of the RRs was tested using the test of Breslow and Day. If departure from homogeneity in the different registries was not significant, registry-adjusted RRs with 95% confidence intervals were calculated. Overall, among 260,865 twins, 5,572 malformations were reported. A total of 101 different types of malformations or groups of defects was identified, and a homogeneous estimate of the RRs among registries was found for 91.1% of the malformations. Thirty-nine of the 92 malformations with homogeneous estimates of RRs were more common in twins than in singletons. For the remaining nine malformations, heterogeneous estimates of RRs were obtained. This study confirms the majority of already known associations and further identifies previously unreported malformations associated with twins. In conclusion, there is an excess of malformations in twins compared with singletons, and all anatomical sites are involved. The number of specific malformations associated with twins is higher than that previously reported in smaller studies.
Abstract: OBJECTIVE: To examine time trends in neural tube defects (NTD) prevalence from 1987 to 1996 in relation to the primary prevention policies for folic acid supplementation strategies in different countries. DESIGN: Retrospective time trends analysis of NTD prevalence. SETTING: 11 birth defect registries of congenital malformations participating in the International Clearinghouse for Birth Defects Monitoring System, in the period from 1 July 1987 to 30 June 1996. SUBJECTS: 8207 live births, stillbirths and terminated pregnancies affected by anencephaly or spina bifida registered by the 11 participating centres 1987-1996. OUTCOME MEASURES: Prevalence rate ratios based on the annual rates, using the Poisson regression model. RESULTS: During the study period a significant fall in prevalence rates for all NTD is present in Atlanta (USA), England and Wales, Hungary and Japan, and a significant rise in Norway and South America. After adjusting for the secular trends observed in the earlier years of the study, no significant trend can be attributed to preventive strategies. Data on NTD prevalence are supplemented with information on folate awareness among some of the populations studied. CONCLUSION: There is no evidence that, up to the middle of 1996, any change in time trend was attributable to the introduction of national folate supplementation policies. The possible effectiveness of folate supplementation policies for the reduction of NTD clearly needs to be tried and studied for several more years. Considering that in the Western world about 50% of pregnancies are unplanned, a policy that rests on action taken before conception can only have limited success. Strategies based on food enrichment, such as was introduced in the USA from the beginning of 1998, may prove to be more successful.
Abstract: We have developed two different equations, for each sex of the elderly italian population to predict weight from selected measures of recumbent anthropometry, using data of 172 females (72.8 +/- 8 years old) and 113 males (73.4 +/- 8 years old). The independent variables for both sexes were knee stature. subscapular skinfold, arm and calf circumferences. Cross validation was conducted on a free-living sample of 54 females and 30 males. The recommended equations have a 95% probability of predicting the weight of an elderly man or woman to be within plus or minus 4.9 or 6.1 Kg respectively.
