Heritability of arterial stiffness and carotid intima-media thickness: an Italian twin study.

BACKGROUND AND AIMS: Carotid intima-media thickness (IMT) and arterial stiffness parameters, including aortic augmentation index (AIx) and pulse wave velocity (PWV), are independent predictors of stroke and cardiovascular disease. Genetic effects on these traits were never explored in a Mediterranean country. The present study aims to quantify the contribution of genes, environment and age to carotid IMT and aortic Aix and PWV. METHODS AND RESULTS: The twin design was used. A total of 348 adult twins from the Italian Twin Register underwent measurements of carotid IMT and aortic PWV and AIx in three university hospitals located in Rome, Padua and Perugia. Carotid IMT was measured by B-mode ultrasound, aortic PWV and AIx by Arteriograph. Genetic modelling was performed to decompose total variance of traits into genetic, shared and unshared environmental and age components. For each phenotype, the best-fitting model included additive genetic, unshared environmental and age effects. For IMT, heritability was 0.32 (95% confidence interval (CI): 0.25-0.38), unshared environmental component was 0.25 (0.18-0.32) and age contribution was 0.44 (0.39-0.49). For AIx and PWV, heritabilities were 0.42 (0.29-0.55) and 0.49 (0.35-0.62), unshared environmental components were 0.31 (0.22-0.44) and 0.37 (0.26-0.51) and age contributions were 0.27 (0.16-0.39) and 0.14 (0.06-0.24), respectively. CONCLUSION: This study shows substantial genetic and unshared environmental influences on carotid intima-media thickness and arterial stiffness and confirms the relevant role of age in the aetiology of these traits. Further support is provided for prevention and health promotion strategies based on modifiable factors.

Permanent diabetes during the first year of life: multiple gene screening in 54 patients.

AIMS/HYPOTHESIS: The aim of this study was to investigate the genetic aetiology of permanent diabetes mellitus with onset in the first 12 months of age. METHODS: We studied 46 probands with permanent, insulin-requiring diabetes with onset within the first 6 months of life (permanent neonatal diabetes mellitus [PNDM]/monogenic diabetes of infancy [MDI]) (group 1) and eight participants with diabetes diagnosed between 7 and 12 months of age (group 2). KCNJ11, INS and ABCC8 genes were sequentially sequenced in all patients. For those who were negative in the initial screening, we examined ERN1, CHGA, CHGB and NKX6-1 genes and, in selected probands, CACNA1C, GCK, FOXP3, NEUROG3 and CDK4. The incidence rate for PNDM/MDI was calculated using a database of Italian patients collected from 1995 to 2009. RESULTS: In group 1 we found mutations in KCNJ11, INS and ABCC8 genes in 23 (50%), 9 (19.5%) and 4 (8.6%) patients respectively, and a single homozygous mutation in GCK (2.1%). In group 2, we identified one incidence of a KCNJ11 mutation. No genetic defects were detected in other loci. The incidence rate of PNDM/MDI in Italy is estimated to be 1:210,287. CONCLUSIONS/INTERPRETATION: Genetic mutations were identified in ~75% of non-consanguineous probands with PNDM/MDI, using sequential screening of KCNJ11, INS and ABCC8 genes in infants diagnosed within the first 6 months of age. This percentage decreased to 12% in those with diabetes diagnosed between 7 and 12 months. Patients belonging to the latter group may either carry mutations in genes different from those commonly found in PNDM/MDI or have developed an early-onset form of autoimmune diabetes.

Psychological well-being (PWB): a natural life outlook? An Italian twin study on heritability of PWB in young adults.

BACKGROUND: To date, the genetic and environmental architecture of the dimensions of psychological well-being (PWB) remains unexplored. METHOD: PWB of 742 twins aged 23-24 years and enrolled in the Italian Twin Registry was assessed with the three-item version of Ryff's Scales of Psychological Well-Being (SPWB). These scales include items for evaluating the PWB dimensions of self-acceptance, positive relations with others, autonomy, environmental mastery, purpose in life, and personal growth. A twin design was used to obtain correlations in the PWB dimensions for monozygotic (MZ) and dizygotic (DZ) twins and to estimate the contribution of genetic and environmental factors to variation and covariation in the dimensions. RESULTS: Genetic factors explained moderate to substantial proportions of variance in the six SPWB dimensions, with heritability estimates between 37% and 64%. The estimates of genetic correlations were very high (range 0.77-0.99), indicating that genetic factors that influence the expression of the different dimensions of PWB may be shared to a large extent. Non-shared environmental correlations ranged from substantial to high, with the exception of the correlation between autonomy and the dimensions of purpose in life, self-acceptance and personal growth. CONCLUSIONS: This study presents a twin analysis of PWB measured by the SPWB dimensions; it was found that both genes and non-shared environment play a role in individual differences. The genetic and non-shared environmental correlations between SPWB dimensions suggest that common underlying genetic and non-shared environmental factors influence the expression of the different facets of PWB.

Serum transforming growth factor ß1 during diabetes development in non-obese diabetic mice and humans.

Recent data show that regulatory cells with transforming growth factor (TGF)-ß1-dependent activity are able to restore self-tolerance in overtly diabetic non-obese diabetic (NOD) mice. Thus, TGF-ß1 seems to have a relevant role in protection from autoimmune diabetes. Our aim was to investigate the possible significance of serum TGF-ß1 measurement in the natural history of diabetes in NOD mice, as well as in children positive for at least one islet-related antibody. Serum TGF-ß1 (both total and active) was measured by enzyme-linked immunosorbent assay at monthly intervals in 26 NOD mice during the spontaneous development of diabetes and, on a yearly basis, in nine siblings of patients with type 1 diabetes (T1D) with a follow-up of 4 years. Diabetes appeared between the 12th week of age and the end of the study period (36 weeks) in 17 mice. TGF-ß1 serum level variations occurred in the prediabetic period in both NOD mice and humans and diabetes diagnosis followed a continuing reduction of active TGF-ß1 (aTGF-ß1) serum levels. In mice, aTGF-ß1 serum levels measured at 4 weeks of age correlated positively with severity of insulitis, and negatively with percentage of insulin-positive cells. Our findings suggest that in NOD mice serum TGF-ß1 levels during the natural history of the diabetes reflect the course of islet inflammation. The measurement of aTGF-ß1 in islet-related antibody-positive subjects may provide insights into the natural history of prediabetic phase of T1D.

Risk factors for Sjögren's syndrome: a case-control study.

OBJECTIVE: The aim of this study was to investigate potential risk factors for Sjögren's syndrome (SS) by means of a multi-centre case-control study, focusing in particular on familial and environmental risk factors. 140 female SS patients and 109 female controls with orthopaedic problems were consecutively enrolled in seven university hospitals in Italy. METHODS: Information regarding the patient's lifestyle, her medical, menstrual and pregnancy history, and any family history of autoimmune diseases (AD) was obtained through a detailed structured questionnaire. The odds ratio (OR) and 95% confidence interval (95%CI) were calculated using unconditional logistic regression, adjusting for age and family size. The probability of first-degree relatives developing an autoimmune disease was also investigated. RESULTS: A positive family history of AD was significantly associated with SS. Subjects with a first-degree relative (FDR) with AD showed a seven-fold increase in the risk for SS compared to controls (OR=7.4, 95%CI 2.8-20.1); the strength of this association increased with the number of relatives affected. Similarly, the FDR of SS patients had a higher risk of AD in comparison to subjects without FDR affected by SS. Women with one or more pregnancies had an increased risk of SS (OR=2.1, 95%CI 1.0-4.3). CONCLUSION: This study suggests that a family history of AD is associated with SS.

Sexual transmission of the hepatitis C virus and efficacy of prophylaxis with intramuscular immune serum globulin. A randomized controlled trial.

OBJECTIVE: To estimate the risk of sexual transmission of hepatitis C and to assess the value of prophylaxis with periodic intramuscular immune serum globulin administration. METHODS: Of 1102 steady heterosexual partners of patients with antibodies to the hepatitis C virus (HCV), 899 were enrolled in a single-blind, randomized, controlled trial. All the partners tested negative for antibodies to HCV and had normal baseline serum aminotransferase concentrations. The partners were assigned to receive 4 mL of 16% polyvalent immune serum globulin prepared from unscreened donors every 2 months (n = 450) or a placebo (n = 449). Tests for HCV infection were performed every 4 months. RESULTS: Eight hundred eighty-four partners completed the study. Seven partners became infected with HCV: 6 in the control group (incidence density, 12.00 per 1000 person-years; 95% confidence interval, 3.0 21.61) and 1 in the immune serum globulin group (incidence density, 1.98 per 1000 person-years; 95% confidence interval, 0-5.86). The risk of infection was significantly higher for partners in the control group (P = .03): for each year approximately 1% of the partners became infected. Sequence homology studies strongly suggest the sexual transmission of HCV. All immune serum globulin lots used had high enzyme-linked immunosorbent assay titers of neutralizing antibodies to HCV envelope glycoproteins and high neutralization titers in the neutralization of binding assay. CONCLUSIONS: Hepatitis C can be sexually transmitted. Immune serum globulin prepared from unscreened donors significantly reduced the risk. The treatment was safe and well tolerated. Because only immune serum globulin from unscreened donors (and not from those screened for HCV) contain anti-HCV neutralizing antibodies, hyperimmune anti-HCV immune serum globulin should be prepared from blood testing positive for antibodies to HCV, which is currently discarded.

A population-based study on the frequency of additional congenital malformations in infants with congenital hypothyroidism: data from the Italian Registry for Congenital Hypothyroidism (1991-1998).

In the last decade a high frequency of other congenital anomalies has been reported in infants with congenital hypothyroidism (CH) detected by neonatal screening. In the present study the occurrence of additional congenital malformations (CM) in the population of CH infants detected in Italy between 1991 and 1998 (n = 1420) was investigated. In Italy all of the centers in charge of screening, treatment, and follow-up of CH adhere to the Italian National Registry of infants with CH. In this study a high prevalence of additional CM (8.4%), more than 4-fold higher than that reported in the Italian population (1-2%), was found in the population of CH infants. Cardiac anomalies represented the most frequent malformations associated with CH, with a prevalence of 5.5%. However, a significant association between CH and anomalies of nervous system, eyes, and multiple CM was also observed. In conclusion, the significantly higher frequency of extrathyroidal congenital malformations reported in the CH infants than in the general population represents a further argument supporting the role of a genetic component in the etiology of CH. Investigations of the molecular mechanisms underlying developmental events of formation of thyroid and other organs represent critical steps in the knowledge of CH etiology.

Postpartum thyroiditis is associated with fluctuations in transforming growth factor-beta1 serum levels.

Postpartum thyroiditis (PPT) is characterized by a rapid evolution and recovery of euthyroidism. Therefore, it can represent a good model to study early cytokine fluctuations in autoimmune thyroid diseases. TGFbeta1 is an immunosuppressive cytokine, as it inhibits T and B cell proliferation, natural killer cell cytotoxic activity, and the generation of T cell cytotoxicity. The aim of this study was to assess serum concentrations of TGFbeta1 during pregnancy and to study possible serum fluctuations of this cytokine during the different phases of PPT. Thyroid biochemical pattern, antithyroid autoantibodies (ATA), and total and active TGFbeta1 (aTGFbeta1) serum concentrations were evaluated in 63 pregnant women. Thirty-four of them were ATA(+), and 29 were ATA(-). Twenty of the 34 ATA(+) women were followed in the postpartum year. Nine of these 20 women developed PPT; 11 remained euthyroid. All of the PPT women became euthyroid during the follow-up. Our results showed 1) detectable serum levels of aTGFbeta1 in 50% of ATA(+) pregnant women, suggesting that the presence of autoantibodies may characterize a favorable condition for TGFbeta1 activation; and 2) decreased total TGFbeta1 and increased aTGFbeta1 serum levels during the active phase of PPT in ATA(+) women. This seems to suggest that inflammation may be responsible for TGFbeta1 activation and autoantibody increase because of antigen release. Although further studies of women with persistent hypothyroidism after the postpartum year are needed, the possibility that the enhanced activation of TGFbeta1 may contribute to resolution of thyroid inflammation postpartum cannot be excluded.

A dose-response effect between a sunlight index and age-related cataracts. Italian-American Cataract Study Group.

To explore the existence of a dose-response relationship between sunlight exposure and risk of age-related cataracts, we analyzed data collected from 1008 patients with cataracts and 469 control subjects enrolled in the Italian-American Case-Control Study of Age-Related Cataracts. Fourteen variables related to sunlight exposure history were included in the questionnaire administered to the study participants. A sunlight index was constructed and its relationship to the presence of cataracts was modeled by logistic regression. After adjustments for potential confounding variables and for age and sex, a significant dose-response effect (P = 0.01) was detected between the sunlight exposure index and the presence of pure cortical cataracts. With the exception of corticonuclear cataracts, all the other mixed types of opacity also showed a dose-response association with the sunlight index. These data support the hypothesis that sunlight exposure is a risk factor in the development of cortical cataracts, and demonstrate the existence of a dose-response relationship in this association.

Prophylaxis of hepatitis C with intramuscular immunoglobulin: clinical and economic appraisal.

Hepatitis C virus (HCV) affects millions of individuals worldwide. In most cases, HCV infection progresses to chronic liver disease and, subsequently, to liver cirrhosis and hepatocellular carcinoma. HCV is transmitted by the parenteral route, for example by transfusion of blood or blood products, injection during drug abuse, etc., and by the inapparent parenteral route (penetration of the virus through difficult-to-identify microlesions present on the skin or mucosae), for example, sexual exposure or household exposure to infected contacts, etc. The cost of chronic hepatitis C and its sequelae is high in both financial and human terms. At present, only anti-HCV screening of blood/organ/tissue donors and universal precautions for the prevention of blood-borne infections are recommended for HCV prevention. Before the discovery of the main aetiological agent of non-A, non-B hepatitis (HCV), several randomised controlled clinical trials demonstrated that standard intramuscular immunoglobulin exerted a preventive effect on post-transfusional and sexual and /or horizontal transmission of non-A, non-B hepatitis. When serological tests for HCV infection became available, bimonthly inoculation of standard unscreened intramuscular immunoglobulin (prepared from plasma pools containing about 2% of anti-HCV-positive units) was demonstrated to significantly prevent sexually transmitted HCV infection. The immunoglobulin used contained high titres of anti-HCV neutralising antibodies (anti-E2 neutralisation of binding assay), whereas currently available commercial screened immunoglobulin (prepared from anti-HCV-negative blood units) did not. This finding suggested that anti-HCV neutralising antibodies are concentrated only in anti-HCV-positive units (which are currently discarded). Thus, anti-HCV hyperimmune globulin (HCIg) can be produced only from anti-HCV-positive units. The neutralising titre can be increased by the exclusive use of units with higher titres of neutralising antibodies. Unlike other hyperimmune globulins, which are produced from a limited number of selected donors, HCIg should be produced from a large number of units so as to contain neutralising antibodies to the different HCV strains. HCIg will have a number of advantages: (i) it is easy to produce and inexpensive; (ii) it has a long half-life, allowing infrequent administration; (iii) new additional viral inactivation procedures have been introduced to eradicate transmission of infection, and (iv) it may be possible to neutralise all the emerging HCV strains. HCIg could be used in all individuals at risk of HCV infection (sexual partners, haemodialysis patients, etc), in preventing reinfection of transplanted livers, and perhaps also in the treatment of chronic hepatitis C, alone or associated with other drugs.

National survey of hospital infection control organization in Italian public hospitals.

A questionnaire was mailed to 1073 Italian public hospitals in an attempt to find out if infection control programmes existed, the type of programme used and available resources. After two attempts a total of 54.9 per cent of the hospitals responded to the request and of these 16.1 per cent claimed to have an infection control programme. Sixty-six per cent of the hospitals who have a control programme also have a system of continuous surveillance whilst the remainder investigated epidemics only. Infection control programmes were encountered most frequently in paediatrics, obstetrics and surgical departments. The organisms most often surveyed were the salmonellas, other types of enterobacteria, staphylococci and streptococci.

National prevalence survey of hospital-acquired infections in Italy, 1983.

In 1983 a national prevalence survey was conducted in Italy to discover the general distribution of infection among patients in public hospitals. Thirty-four thousand, five hundred and seventy-seven acute patients were surveyed in 130 hospitals spread throughout the country: 6668 patients (19.3%) had an active infection at the time of the survey; the infection was hospital-acquired in 2361 (6.8%) and community-acquired in 4307 (12.5%). The urinary tract was the site most frequently involved in hospital infection (30.2% of patients with hospital-acquired infection). The respiratory tract was the site most often involved in community infections (35.7% for the lower tract and 9.1% for the upper). Hospital-acquired infections were more frequent in intensive care units (12.4%) and in geriatric (11.6%), orthopaedic (8.2%) and surgical wards (7.6%). The prevalence of urinary tract infection was 10.4% among the 9.4% of patients who were catheterized compared with a prevalence of 2.6% in the uncatheterized. Thirty-five point five per cent of patients were receiving an antimicrobial on the day of the survey.

Differing risk factors for cerebral palsy in the presence of mental retardation and epilepsy.

Whether the combined diagnosis of cerebral palsy with mental retardation or with mental retardation and epilepsy reflects more severe manifestations of the spectrum of cerebral palsy, or whether these conditions reflect overlapping outcomes related to different exposure, remains an open question. At two centers, in Rome and Conegliano, Italy, 51 children with combined cerebral palsy, mental retardation, and epilepsy, 31 children with both cerebral palsy and mental retardation, and 48 with cerebral palsy alone were identified and examined, and their mothers interviewed. The triple diagnosis group was significantly more likely than the other two groups to have a history of neonatal convulsions and a history of epilepsy in first-degree relatives, but less likely to have a mother's age at delivery greater than 33 years, a birthweight less than 1500 g, or gestational age less than 32 weeks. The dual diagnosis group was more likely than the other two groups to have maternal education of less than 8 years. These data suggest the possibility of different etiopathogenetic pathways for various presentations of cerebral palsy.

Sexual transmission of hepatitis C virus and prevention with intramuscular immunoglobulin.

The sexual transmission of hepatitis C virus (HCV) has long been debated. The prevalence of infected at-risk partners varies from 0% to 30%. In a prospective study, the risk of infection was quantified in steady heterosexual partners and the prophylactic effect of normal human polyvalent immune serum globulin (ISG) was evaluated. A total of 899 at-risk partners of HCV-infected patients were enrolled in a single-blind randomized controlled trial and assigned to receive every 2 month 4 mL of intramuscular ISG from unscreened donors (450 partners) or placebo (499 partners). Seven partners developed acute HCV infection (increased aminotransferase levels and appearance of HCV-RNA): six of the placebo group (incidence density [ID] 12.00/1,000 person year; 95% confidence interval [CI] 3.0 to 21.61), and only one of the ISG-treated group (ID 1.98/1,000 person year; 95% CI 0 to 5.86). The risk of infection was significantly higher in controls versus treated individuals (p = 0.03). Six couples had genotype 1b (85%), and one couple had genotype 1a; HCV sequence homology strongly supported sexual transmission. Our trial demonstrates that HCV infection can be sexually transmitted and quantifies the risk of sexual transmission: for every year of at-risk sexual relationship, almost 1% of the partners became infected. Intramuscular ISG is safe and well tolerated. Unlike ISG from screened donors, ISG from donors unscreened for anti-HCV contains high titers of anti-gpE1/gpE2 neutralizing antibodies and high neutralizing activity. Anti-HCV hyperimmune globulin could be prepared from anti-HCV-positive blood units and could be used to protect sexual partners and in other at-risk situations of exposure to HCV infection.

[Ethical problems in genetic epidemiology]. / Problemi etici in epidemiologia genetica.

Two are the principal ethical problems to be faced by the genetic epidemiological research. One has to do directly with the "creation" and "managing" of genetic information about the basic unit of the genetic epidemiological studies, that is the family. This will possibly aggravate all the difficulties regarding the subject recruitment, the informed consensus, the confidentiality of genetic results as well as their disclosure to study participants. The other concern is the potential conflict between the interests of the individual and those of the society that could arise when a screening program focused to high risk groups is implemented. Both the aspects will be discussed, according to the recent literature. The methodological work done by Muin Koury on genetic screening and public health issues will be presented.

Genetic epidemiology: a powerful approach for the comprehension of cancer etiology.

Cancer is due to a damage at DNA level, either in the germline cells (in which case it is hereditary) or in the somatic cells, caused by gene mutations, spontaneous or due to environmental exposures. While epidemiologists have traditionally focused their attention on environmental risk factors, and geneticists have been mainly interested in rare hereditary cancers, the aim of genetic epidemiology is to look simultaneously at biological inherited susceptibility and environmental risk factors, with particular attention to possible gene-environmental interactions in the pathogenesis of the disease. Epidemiological approaches, in which target groups are populations or families, are briefly discussed in relation to their use, in the design of the studies, of genetic traits, measured either at DNA level or by gene products (proteins, enzymes, antigens).

[Methods for the evaluation of a health intervention in developing countries: the case in the Arsi region, Ethiopia]. / Metodi per la valutazione di un intervento sanitario nei paesi in via di sviluppo: il caso nella regione dell'Arsi, Etiopia.

Since 1989 an evaluation study of the impact of a Primary Health Care (PHC) program is being carried out in Arsi region, Ethiopia. The principal aim of the study is to estimate the mortality rates in those villages mainly involved in PHC activities. A sample of 80 villages will be recruited to allow significant differences in mortality of 20 per thousand between less treated and best treated villages. Considering the absence of routine demographic data, a population census and demographic surveillance of the recruited villages have been carried out. All the activities related to the study are considered together with the principal logistic and methodologic problems.

PIP: The Arsi region in Ethiopia has a population of 2 million who are served by 2 hospitals, 7 health centers (HCs), and 82 health stations (HSs). In 1988, a primary health care program was launched to improve health care by restructuring the instrumentation of HCs, HSs, and health posts HPs, by strengthening maternal-child health (MCH) care with UNICEF support of an expanded program of immunization. In villages, community health agents (CHA) provide primary care for the sick as well as information on hygiene and sanitation in collaboration with traditional birth attendants (TBAs). The health indicators chosen for the study were: overall mortality, child mortality for ages 1-4, sudden illness, utilization of health care, and vaccination coverage. In the first year, child mortality was calculated indirectly by using the technique of Brass. The estimated annual birth rate was 43/1000, the mortality rate was 19/1000, and the child mortality rate was 149/1000. 80 villages with an average population of 1500 each had about 5000 births a year. It was hypothesized that child mortality was 130/1000 in those villages that received minor health care and that a reduction of 20/100 could be achieved if 40 villages were completely covered by health care. Data collection regarding health indicators, sanitation, and household economics was envisioned for late 1989 and 1990 by student interviewers and CHAs. A quarterly demographic bulletin was issued by the Regional Epidemiological Office that monitored field work and checked data for quality. Periodic meetings of CHAs were held for problem-solving. the large nonhomogeneous population and inaccessible terrain posed most of the problems and necessitated a large staff for data collection and continuous supervision.

[The evaluation of the risk factors for congenital hypothyroidism: the outlook of a case-control study]. / Valutazione dei fattori di rischio dell'ipotiroidismo congenito: prospettive di uno studio caso-controllo.

The availability of a National Register of congenital hypothyroid infants allowed to perform descriptive studies on characteristics of the cases and the efficiency of the neonatal screening. Continuous and exhaustive recording of data concerning congenital hypothyroidism cases provided valuable epidemiological informations about congenital hypothyroidism in Italy. Moreover, the National Register allowed to develop a network of collaboration which can promote a population based case-control study. As the etiopathogenesis of congenital hypothyroidism has not been completely elucidated, performing of a case-control study can contribute to evidence the most important risk factors of congenital hypothyroidism and to improve the prevention also by prenatal diagnosis of this disease. Screening centers will be involved in the study and questionnaires of the National Register for congenital hypothyroidism will be used to record case and control informations. A biological bank concerning cases, controls and their parents, will be organized.

[Transient congenital hypothyroidism in iodine deficiency areas. Gruppo di Studio per il Registro Nazionale degli Ipotiroidei Congeniti]. / Ipotiroidismo congenito transitorio in aree iodocarenti. Gruppo di Studio per il Registro Nazionale degli Ipotiroidei Congeniti.

On the basis of data collected in the National Register of infants with congenital hypothyroidism (CH), a mean incidence of 1 case of CH to 3200 live births has been estimated in Italy. Nevertheless a higher incidence (> 1:2000) than national mean value has been observed in several districts of our country. The aim of this study was to verify a possible occurrence of transient hypothyroidism (TH) in these areas. Results of our study showed that the proportion of infants with thyroid in situ was significantly higher in the areas with very high CH incidence than in the remaining parts of the country. Also serum TSH levels at confirmation showed a less severe hypothyroidism in infants of these areas when compared with the other CH infants. Furthermore, preliminary results of diagnosis reevaluation showed 58% of TH in the areas with CH incidence > 1:2000. Lower percentages of TH have been observed in the other areas in relation to the decreasing of CH incidence. Most of the high CH incidence areas are historically affected by iodine deficiency. This observation supports the hypothesis that iodine deficiency can contribute to the occurrence of transient disorders of thyroid function in our population and stresses the need of promoting diffusion of an adequate iodine prophylaxis.

[Neonatal screening in congenital hypothyroidism in Italy. The National Registry]. / Lo screening neonatale dell'ipotiroidismo congenito in Italia. Il Registro Nazionale.

Neonatal screening for congenital hypothyroidism (CH) began in Italy in 1977 and then progressively developed covering 97% of live births in 1992. The National Register of infants with congenital hypothyroidism was established in 1987 as a project of the Health Ministry and is coordinated by the Italian Institute of Health. The aim of the Register is to provide disease surveillance, to monitor the efficiency and effectiveness of neonatal screening and to allow the identification of possible etiological risk factors in congenital hypothyroidism. The results of the Register provided valuable epidemiological informations about congenital hypothyroidism in Italy and evidenced several areas in whom an increased incidence probably caused by iodine deficiency was observed. Discussion of Register data during annual national meetings has allowed an improvement of the screening program with particular regard to the beginning of therapy with L-thyroxine and its dose. Because of the wide spectrum of collected information, the National Register represents a useful tool for developing of collaborative studies concerning some aspects of CH not yet completely elucidated.