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E Calzolari

Publications and source records attributed to E Calzolari.

At least 37 records · Page 2Linked to original sources
PubMed2000

Maternal occupational risk factors for oral clefts. Occupational Exposure and Congenital Malformation Working Group.

OBJECTIVES: This study investigated the role of maternal exposures at work during pregnancy in the occurrence of oral clefts. METHODS: The occupational exposures of 851 women (100 mothers of babies with oral clefts and 751 mothers of healthy referents) who worked during the first trimester of pregnancy were studied. All the women were part of a multicenter European case-referent study conducted using 6 congenital malformation registers between 1989 and 1992. In each center, the mother's occupational history, obtained from an interview, was reviewed by industrial hygienists who were blinded to the subject's status and who assessed the presence of chemicals and the probability of exposure. Odds ratios (OR) were estimated by a multivariate analysis including maternal occupation or occupational exposures during the first trimester of pregnancy and possible confounding factors such as center of recruitment, maternal age, urbanization, socioeconomic status, and country of origin. RESULTS: After adjustment for confounding factors, cleft palate only was significantly associated with maternal occupation in services such as hairdressing [OR 5.1, 95% confidence interval (95% CI) 1.0-26.0] and housekeeping (OR 2.8, 95% CI 1.1-7.2). The analysis suggests that the following occupational exposures are associated with orofacial clefts: aliphatic aldehydes (OR 2.1, 95% CI 0.8-5.9) and glycol ethers (OR 1.7, 95% CI 0.9-3.3) for cleft lip with or without cleft palate and lead compounds (OR 4.0, 95% CI 1.3-12.2), biocides (OR 2.5, 95% CI 1.0-6.0), antineoplastic drugs (OR 5.0, 95% CI 0.8-34.0), trichloroethylene (OR 6.7, 95% CI 0.9-49.7), and aliphatic acids (OR 6.0, 95% CI 1.5-22.8) for cleft palate only. CONCLUSIONS: Due to the limited number of subjects, these results must be interpreted with caution. However, they point out some chemicals already known or suspected as reproductive toxins.

Adult↗
PubMed2000

Prenatal UPD testing survey in Robertsonian translocations.

A systematic search was made for uniparental disomy (UPD) in familial or de novo balanced Robertsonian translocations, identified by prenatal cytogenetic investigations. Parent-of-origin studies were performed using molecular markers for both chromosomes involved in the translocation. No UPD cases were identified out of 23 analysed cases. The results presented here, combined with other available data, provide preliminary elements for genetic counselling in these common chromosomal rearrangements.

Amniotic Fluid↗
PubMed2000

Marden-Walker syndrome: case report, nosologic discussion and aspects of counseling.

The Marden-Walker syndrome is characterized by a mask-like face with blepharophimosis, micrognathia, cleft or high-arched palate, low-set ears, congenital joint contractures, decreased muscular mass, failure to thrive and psychomotor retardation. We report a boy with a phenotype mostly resembling the condition named Marden-Walker syndrome, with many of the criteria proposed for diagnosing this particular phenotype. In addition he had hypoplastic corpus callosum, cerebellar vermis hypoplasia, enlarged cisterna magna and vertebral abnormalities. During pregnancy there were reduced fetal movements. In the present patient the fetal hypokinesia sequence, due to central nervous system malformation, is most compatible with the diagnosis of Marden-Walker syndrome. The etiology is probably heterogeneous, but the possibility of autosomal recessive inheritance should be considered in genetic counseling.

Arthrogryposis↗
PubMed2000

[Congenital cardiopathy in a data-based population].

Altogether 429.139 consecutive births were surveyed during the eighteen years study period by the Emilia-Romagna Registry. Among these, 2147 newborns with congenital heart defects (CHD) (prevalence 5 per 1000) were detected within the first week of life. There were 1607 isolated CHDs and 540 cases had other associated defects. During the study period an increase in prevalence/rate of CHDs was observed (from 3.1 per 1000 in 1980 to over 7 per 1000 in 1998), particularly isolated CHDs increased from 2.2 to 6 per 1000, while the prevalence rate of CHDs cases with other associated anomalies was constant ranging from 1 to 2 per 1000. The increase of isolated CHDs was due to the increased number of "minor" lesions such as ventricular (VSD) and atrial septal defect. The apparent increase in birth prevalence of CHD mainly results from improved diagnosis due to widespread use of color-doppler ecocardiography. As in other studies, a significant shift in the sex-ratio has been documented: a male predominance in transposition of great arteries, left hypoplastic heart and aortic stenosis (male/female ratio 2.2, 2.3, 4.5 respectively) were found; while VSD had a slight female excess (male/female ratio 0.96). The study confirmed that the majority of the affected parents were mothers. The recurrence risk of a cardiac defect in first degree relatives was 2.3%, while the recurrence risk of isolated conotruncal defects was 3.9%. Out of 47 cases with isolated conotruncal defects 4 had microdeletion of chromosome 22q11.2 and concerning the first degree relatives in one case the father had the deletion without CHD.

Female↗
PubMed1999

Townes-Brocks syndrome: detection of a SALL1 mutation hot spot and evidence for a position effect in one patient.

Townes-Brocks syndrome (TBS) is an autosomal dominant developmental disorder characterized by anal and thumb malformations and by ear anomalies that can affect the three compartments and usually lead to hearing loss. The gene underlying TBS, SALL1, is a human homolog of the Drosophila spalt gene which encodes a transcription factor. A search for SALL1 mutations undertaken in 11 unrelated affected individuals (five familial and six sporadic cases) led to the detection of mutations in nine of them. One nonsense and six different novel frameshift mutations, all located in the second exon, were identified. Together with the previously reported mutations [Kohlhase et al., 1999], they establish that TBS results from haploinsufficiency. The finding of de novo mutations in the sporadic cases is consistent with the proposed complete penetrance of the disease. Moreover, the occurrence of the same 826C>T transition in a CG dimer, in three sporadic cases from the present series and three sporadic cases from the other series [Kohlhase et al., 1999] (i.e., six of the eight mutations identified in sporadic cases), reveals the existence of a mutation hotspot. Six different SALL1 polymorphisms were identified in the course of the present study, three of which are clustered in a particular region of the gene that encodes a stretch of serine residues. Finally, the chromosome 16 breakpoint of a t(5;16)(p15.3;q12.1) translocation carried by a TBS-affected individual was mapped at least 180 kb telomeric to SALL1, thus indicating that a position effect underlies the disease in this individual.

Abnormalities, Multiple↗
PubMed1999

Idiopathic central retinal vein occlusion in a thrombophilic patient with the heterozygous 20210 G/A prothrombin genotype.

PURPOSE: To report the occurrence of monolateral central retinal vein occlusion in a patient with heterozygous 20210 G/A prothrombin genotype, known to be associated with high thrombophilic risk. METHODS: A monolateral central retinal vein occlusion was diagnosed in a 71-year-old woman, who had suffered from a deep vein thrombosis in her left leg at the age of 36 years. Mutations of the genes involved in the coagulation process were investigated by DNA polymerase chain reaction. RESULT: DNA analysis showed the patient to be heterozygous for the prothrombin 20210 G/A genetic variation. CONCLUSION: The 20210 G/A prothrombin gene mutation may be associated with central retinal vein occlusion.

Aged↗
PubMed1999

Therapeutic drug use during pregnancy: a comparison in four European countries. OECM Working Group. Occupational Exposures and Congenital Anomalies.

A drug utilization study was performed using data of the OECM study on Occupational Exposures and Congenital Malformations, which was conducted in six European Registries of Congenital Anomalies (two in France, two in Italy, one in Great Britain, and one in The Netherlands): the mothers were interviewed after delivery for exposures during pregnancy, including use of therapeutic drugs. The analysis of drug use considered only the 1134 control mothers of healthy newborns, and focused on the first trimester of pregnancy: 36.2% of the interviewed mothers used at least one drug (excluding vitamins and minerals) during the first trimester. This rate varied from 22.5% in Glasgow to 50.3% and 44.2% in the French centers. Anti-infectives were the most frequent drugs (12.3% of mothers), then antinauseants (10.6%), and treatments for threatened abortion (5.5%). Important variations between countries were observed, reflecting different medical attitudes towards drug use during pregnancy.

Adult↗
PubMed1999

A missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated families.

The multiplicity of functions served by intercellular gap junctions is reflected by the variety of phenotypes caused by mutations in the connexins of which they are composed. Mutations in the connexin26 (Cx26) gene ( GJB2 ) at 13q11-q13 are a major cause of autosomal recessive hearing loss (DFNB1), but have also been reported in autosomal dominant deafness (DFNA3). We now report a Cx26 mutation in three families with mutilating keratoderma and deafness [Vohwinkel's syndrome (VS; MIM 124500), as originally described]. VS is characterized by papular and honeycomb keratoderma associated with constrictions of digits leading to autoamputation, distinctive starfish-like acral keratoses and moderate degrees of deafness. In a large British pedigree, we have mapped the defect to the Cx26 locus. All 10 affected members were heterozygous for a non-conservative mutation, D66H, in Cx26. The same mutation was found subsequently in affected individuals from two unrelated Spanish and Italian pedigrees segregating VS, suggesting that D66H in Cx26 is a common mutation in classical VS. This mutation occurs at a highly conserved residue in the first extracellular domain of the Cx26 molecule, and may exert its effects by interfering with assembly into connexons, docking with adjacent cells or gating properties of the gap junction. Our results provide evidence that a specific mutation in Cx26 can impair epidermal differentiation, as well as inner ear function.

Adolescent↗
PubMed1998

Evidence that photodynamic stress kills Zellweger fibroblasts by a nonapoptotic mechanism.

Zellweger fibroblasts, which are devoid of peroxisomes and fail to synthesize plasmalogens, are very sensitive to the killing effect triggered by UV-activated 12-(1-pyrene) dodecanoic acid (P12). Although in some studied performed, it is assumed that reactive oxygen species (ROS) may damage plasma membrane causing necrosis, other studies suggest that ROS are involved in apoptotic cell death induced by a wide variety of stimuli. Analysing the P12 dose-response in Zellweger fibroblasts, we observed that at high doses (1-2 microM), more than 75% of the cells died after 24 h. This behaviour suggested that, at high doses, P12 kills the cells by unspecific lytic mechanisms or by necrosis, while at low doses (0.1-0.5 microM), an apoptotic mechanism could be involved. Cytofluorimetric analysis of Zellweger fibroblasts-treated with activated P12 (0.5 microM) did not show morphological modifications typical of apoptotic cell death. This was supported by comparative staining of fibroblast nuclei, DNA gel electrophoresis and identification of poly(ADP-ribose) polymerase (PARP) cleavage and Bcl-2 expression, assayed by Western blots. Thus, our results, while confirming the importance of plasmalogens in the protection against ROS, establish that apoptosis is not involved in photodynamic death induced by activated P12. Therefore, we can expect that in gene transfer experiments, the rescue of Zellweger cells will be dependent only on the correction of peroxisomal biogenesis.

Apoptosis↗
PubMed1998

Sexually active adolescents and young adults: a high-risk group for Chlamydia trachomatis infection.

BACKGROUND: The importance of travel as a risk factor for Chlamydia trachomatis infection was evaluated among a series of young people consecutively tested. METHODS: We studied 130 sexually active young subjects, aged 14-25 years, all living in the Rome, Italy, urban area. Ninety-eight females and 32 males attended hospital-based clinics or were the partners of an infected female. About half of these subjects had traveled abroad either for pleasure or for work, mostly to Europe, but also to North America or to Asia, where they admitted to having had casual sex. We used two "gold standard" methods to diagnose infection with C. trachomatis: culture on McCoy cells grown in shell vial, and direct immunofluorescence with monoclonal antibodies. Subjects were considered infected when at least one test was positive. RESULTS: Thirty-nine of 130 (30%) subjects were asymptomatic, and 27/130 (20.8%) subjects were infected with Chlamydia trachomatis, of whom 6/25 (24%) asymptomatic females and 3/14 (21.4%) asymptomatic males were infected. Among teen-aged (ages 14-19) youngsters with more than one sex partner, international travel was an additional significant risk factor for C. trachomatis infection (p<.02; OR 20; 95% CI 1.47-40%). Urethritis/cystitis and vaginal pathology/discharge were the prevalent manifestations of illness among the females, while urethritis was the only clinical condition found in the males. CONCLUSION: In a series of young subjects, travel abroad, sex with more than one partner, and teen age, combined together, were significant risk factors for the acquisition of Chlamydia trachomatis genitourinary infection.

Adolescent↗
PubMed1997

Are omphalocele and neural tube defects related congenital anomalies?: Data from 21 registries in Europe (EUROCAT).

We have analyzed the association between omphalocele and neural tube defects (O/NTD) previously reported in epidemiological studies of EUROCAT registry data [Dolk et al., 1991; Calzolari et al., 1995]. By examining differences in prevalence between the United Kingdom and Ireland (UKI) and Continental Europe and Malta (CEM) and differences in sex ratio, the possible etiopathogenetic differences between O/NTD association and omphalocele without NTD and NTD without omphalocele were investigated. The distribution of O/NTD cases according to NTD site in the two geographic areas shows in the UKI a tendency for omphalocele to associate with anencephaly/spina bifida and with anencephaly. In CEM centers, these types of NTD are much rarer. The pattern of other anomalies occurring in combination with O/NTD association in the same babies was also analysed.

Birth Rate↗
PubMed1997

Inheritance of cleft palate in Italy. Evidence for a major autosomal recessive locus.

Although several studies have demonstrated familial aggregation of nonsyndromic cleft palate (CP), the mode of inheritance still remains uncertain. We report the results of complex segregation analysis performed in families of 357 consecutive newborns affected with nonsyndromic CP (i.e., CP not a component feature of malformation syndrome, sequence or association), and registered in the North East Italy and Emilia Romagna congenital malformation registries in the period 1981-1993. This sample, based on a large number of consecutive births, in a well-defined geographical area, with quality control to detect associated anomalies and malformation syndromes, is independent of the number of affected subjects in the family and of CP severity, fitness, and survival. We have analyzed, using the mixed model, the whole sample of nonsyndromic CP, including isolated (i.e., without other anomalies) CP (CPI) and CP associated with at least one other anomaly (CPA), for which a diagnosis of malformation syndrome was not possible. When nonsyndromic CP (including CPA) are considered in the analysis, there is no heterogeneity between CPA and CPI nor between CP including hard palate (CPH) and CP of the soft palate only (CPS). POINTER and COMDS programs cannot discriminate between alternative genetic models; only the hypothesis of non-genetic transmission is rejected. The COMDS analysis two-locus model, which indicates that a modifier locus (or loci) operates in addition to a single major locus (SML), does not show evidence of better fit than SML, polygenic, and multifactorial models. When the severity parameter (defined as CPH and CPS) is added, CPI and CPA show heterogeneity. Eventually, when the analysis is limited to CPI and includes information on severity, a recessive SML, with low penetrance and determining CPH, provides a significant best fit. To have defined a genetic model for CPI and provided evidence for SML inheritance suggests that genetic linkage studies could be implemented. This conclusion is in agreement with previous studies which showed a significant association between alleles of transforming growth factor alpha and CP only in humans, and that single recessive genes may play a crucial role during palatogenesis in mice as well as in Brittany spaniels. Application of the candidate genes to human CPH families could reveal whether these genes are involved.

Alleles↗
PubMed1997

Congenital malformation and maternal occupational exposure to glycol ethers. Occupational Exposure and Congenital Malformations Working Group.

Glycol ethers are found in a wide range of domestic and industrial products, many of which are used in women's work environments. Motivated by concern about their potential reproductive toxicity, we have evaluated the risk of congenital malformations related to glycol ether exposure during pregnancy as part of a multicenter case-control study, conducted in six regions in Europe. The study comprised 984 cases of major congenital malformations and 1,134 controls matched for place and date of birth. Interviews of the mothers provided information about occupation during pregnancy, sociodemographic variables, and other potential risk factors (medical history, tobacco, alcohol, drugs). A chemist specializing in glycol ethers evaluated exposure during pregnancy, using the job description given by the mother, without knowledge of case or control status. We classified malformations into 22 subgroups. The overall odds ratio (OR) of congenital malformation associated with glycol ether exposure was 1.44 [95% confidence interval (CI) = 1.10-1.90], after adjustment for several potential confounders. The association with exposure to glycol ethers appeared particularly strong in three subgroups: neural tube defects (OR = 1.94; 95% CI = 1.16-3.24), multiple anomalies (OR = 2.00; 95% CI = 1.24-3.23), and cleft lip (OR = 2.03; 95% CI = 1.11-3.73). In this last subgroup, risk, especially of an isolated defect, tended to increase with level of exposure.

Abnormalities, Drug-Induced↗
PubMed1996

Psychiatric disorder in a familial 15;18 translocation and sublocalization of myelin basic protein of 18q22.3.

Two related patients with similar clinical features consisting of a few dysmorphic signs and psychiatric disturbance were reported to have a partial trisomy of chromosomes 15(pter-q13.3) and 18(q23-qter) deriving from a familial translocation t(15;18). One patient is affected by bipolar disorder and the other by schizoaffective disorder. Both cases have a predominantly affective course; nevertheless, a clear diagnosis is difficult in the first patient, who is 15 years of age, and only a longitudinal course will allow us to establish a definite diagnosis. The possibility that these two pathologies belong to a single category is discussed, and the presence of a susceptibility locus on chromosome 18 is hypothesized. Cytogenetic data, FISH, and DNA studies indicate that the myelin basic protein (MPB) gene is not involved in the translocation, and localize it centromeric to the breakpoint on chromosome 18(q22.3). Thus, it is unlikely to be involved in the disease.

Adolescent↗
PubMed1996

Urinary tract abnormalities (UTA) and associated malformations: data of the Emilia-Romagna Registry. IMER Group. Emilia-Romagna Registry on Congenital Malformations.

An epidemiological study on the urinary tract anomalies (UTA) associated with other congenital malformations or syndromes ascertained by the Emilia-Romagna Registry on Congenital Malformations (IMER) among 209,882 consecutive births monitored during the period 1981-1990 is presented. UTA were ascertained in 349 infants for a rate at birth of 16.6 per 10,000 total births, or one case for every 600 births. The occurrence rate of UTA increased significantly during the ten years of monitoring passing from 6.1 per 10,000 in 1981-1982 to 25.1 in 1989-1990 (r = 0.85; p < 0.001). This increase is in connection with a progressively higher notification of isolated cases of UTA, directly related to the impact of the prenatal diagnosis. Among the 349 cases, 106 (30.4%) were associated with other conditions, including 18 who had chromosomal aberrations (ChrA). The incidence in the total number of the ChrA registered was 43.6 per 1,000. Genetic syndromes (GS) in 33 cases with a specific rate of 150 per 1,000, and 55 cases of multiples with a specific rate of 205.2 per 1,000. In multiples we observed some preferential associations of UTA with intestinal defects and severe ear defects (p < 0.001) and for Central Nervous System and heart defects (p < 0.05). UTA are often associated with other extrarenal defects and sometimes are a component of syndromes that are difficult to identify and for which genetic implications are great and genetic counselling necessary. Pediatricians need to be aware of the possible involvement of the kidney in specific and rare syndromes, and pediatric nephrologists must recognize the association of renal diseases with abnormalities in other physiological systems.

Abnormalities, Multiple↗
PubMed1996

Branchio-oto (BO) syndrome and oculo-auriculo-vertebral phenotype: overlapping clinical findings in a child from a BO family.

A three-generation BO family is presented: the proband showed, in addition to branchio-oto malformations, a severe condition with growth retardation, mandibular hypoplasia and vertebral anomalies resembling the oculo-auriculo-vertebral (OAV) phenotype. This family study supports the hypothesis of Rollnick and Kaye that the OAV spectrum may represent, in some cases, an extreme component of the BOR syndrome. The finding has relevant implications for genetic counselling regarding both conditions.

Abnormalities, Multiple↗
PubMed1996

A study on limb reduction defects in six European regions.

Limb reduction defects (LRD) gained special attention after the thalidomide tragedy in 1962. LRD are common congenital malformations which present as obvious congenital anomalies recognized at birth. Therefore it might be assumed that they are well documented. However classification of LRDs is disputed as the identification of the exact site of the reduction(s) is hindered by imprecise information. This study was undertaken in 6 European countries to evaluate the use of the new classification proposed by EUROCAT for the epidemiologic and genetic study of LRD. The total number of births including livebirths, still-births and terminations, surveyed during 7 years by the 6 registries of congenital anomalies participating to this study was 611.150. The total prevalence of LRD was 7.06 per 10.000 births including the following categories prevalence : terminal transverse, 3.97, longitudinal, 1.75, proximal-intercalary, 0.10, split hand/foot 0.54 and multiple types 0.70. The prevalence of LRD was statistically higher in Basque Country, Odense, Strasbourg and Groningen than in Belfast and Emilia Romagna. Six per cent of the cases were chromosomal anomalies, including 15 trisomies 18 out of 26 cases, 49.5% (201 cases) were isolated LRD and 50.5% (206 cases) had other major non LRD associated malformations. Sex ratio and maternal age were not statistically different between regions and from the normal population. Multiply malformed with LRD had statistically significantly lower birthweight and lower gestational age than isolated cases with LRD, where available prenatal detection of LRD was higher in multiple malformed children with LRD than in isolated cases, 19.9% and 4.8% respectively. The precurrence risk was 1 in 37.

Abnormalities, Multiple↗