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F Lalatta

Publications and source records attributed to F Lalatta.

34 records · Page 2Linked to original sources
PubMed1992

Limb anomalies following chorionic villus sampling: a registry based case-control study.

Using data from the Italian Multicentric Birth Defect Registry a case-control study was performed to verify if chorionic villus sampling (CVS) was associated with transverse limb defects (TLD), with or without features of oro-mandibular-limb hypogenesis complex (OMLHC), in the exposed offspring. The results show that the risk of TLD and OMLHC is increased following CVS, and is particularly high for CVS performed early in pregnancy, i.e., under 70 days of gestational age. These results, together with a review of other epidemiologic studies, biological data and clinical reports, strongly suggest a causative role of CVS as a risk factor for TLD and indicate that at this stage CVS before 70 days of gestational age should be discouraged as an option for prenatal diagnosis and that all patients wishing to undergo CVS should be informed about the possible risk of the procedure.

Abnormalities, Multiple↗
PubMed1992

First-trimester prenatal diagnosis of Roberts syndrome.

We present a case of prenatal detection of premature centromere separation on chorionic villi sampled at 8 weeks' gestation from a woman at risk of recurrence of Roberts syndrome. The same cytogenetic characteristic was confirmed on amniocytes at 14 weeks when ultrasound examination showed morphological anomalies of the fetus. To our knowledge, this is the first report of early prenatal diagnosis of Roberts syndrome.

Abnormalities, Multiple↗
PubMed1991

Amyotrophic lateral sclerosis: a possible example of autosomal recessive inheritance.

A family is reported in which three out of four siblings of a consanguineous healthy couple developed adult onset Amyotrophic Lateral Sclerosis (ALS). All patients showed a similar clinical course with regard to disease progression and absence of cognitive deterioration. Laboratory findings included modification of Spinal Evoked Potential (SEP) and normal value of thiamine and thiamine monophosphate in cerebrospinal fluid (CSF). These data suggest an autosomal recessive mode of inheritance of ASL in this family.

Adult↗
PubMed1990

"C" trigonocephaly syndrome: clinical variability and possibility of surgical treatment.

We report on 3 new cases of C trigonocephaly syndrome. In addition to the findings characteristic of this condition, one of the patients also had a large omphalocele. This patient was referred from a suburban hospital with a diagnosis of Down syndrome, stressing the fact that C syndrome is still under-recognized and underdiagnosed. Another patient was diagnosed at birth and immediately submitted to craniosynostectomy. A second operation was performed 7 months later resulting in normal brain growth and close to normal psychomotor development at 3 years, in contrast to the third patient, who was not treated surgically and was severely retarded at 4 years.

Abnormalities, Multiple↗
PubMed1990

Hepatitis B virus transcripts and surface antigen in human peripheral blood lymphocytes.

The presence of hepatitis B virus (HBV) genome, transcripts, and antigens (HBsAg, HBcAg, HBeAg) was examined in peripheral blood lymphocytes (PBL) from 12 patients with HBsAg-positive (B) chronic active hepatitis (CAH) and 8 normal donors by Southern and Northern blot techniques and enzyme-linked immunoassays (ELISA). HBV DNA was detected in 5 patients with B-CAH as extrachromosomal, full-length monomers of 3.2 kb. In 3 of these patients Northern blot analysis revealed the presence of the 3.6-3.8 kb RNA species, which were accompanied in one case by the HBsAg-specific 2.4 kb transcript. An ELISA performed on cell lysate obtained from this patient showed low but detectable amounts of HBsAg as compared to control PBL incubated with up to 50 micrograms/ml of the viral antigen. Serum HBV DNA was found in 3 patients with B-CAH, whereas all individuals positive for cellular HBV DNA had circulating HBeAg. These data indicate that lymphocytes from some patients with hepatitis B can harbor a transcriptionally and translationally active HBV genome.

DNA, Viral↗
PubMed1987

Chorionic villus sampling: improved method for preparation of karyotypes after short-term incubation.

A method for the isolation and trypsin-Giemsa banding of metaphases obtained after short-term incubation (48 h) of cytotrophoblast cells from chorionic villus sample is described. A new slide-making instrument, developed expressly to enhance the spreading of chromosomes from metaphases released from small tissue pieces, is responsible for the increase yield of analysable metaphases in this protocol.

Chorionic Villi↗
PubMed1987

Retinoblastoma, chromosome abnormalities and oncogene expression.

Recurrent chromosomal abnormalities in retinoblastomas involve numbers 13, 1, and 6, as well as homogeneously staining regions (HSR) and double minutes (DMS). Evidence suggesting that chromosome 13 contains a gene responsible for tumorigenesis has already been presented. We postulate that the genetic changes resulting from abnormalities of chromosomes 1 and 6 and the HSR/DMS provide a selective growth advantage to cells in which they occur. Support for this hypothesis, as it relates to the HSR/DMS and oncogene amplification, is discussed.

Chromosome Aberrations↗
PubMed1983

Quantitative characterization of the growth of the fetal kidney.

The time-dependent changes in the antero-posterior (A-P) diamter and length (L) of fetal kidneys has been evaluated by means of statistical analysis of measurements made during the third trimester in a normal population. Two hundred eighty pregnant women were examined between 22 and 40 weeks of gestation. Differences between operator-scanner combinations were evaluated. The relationships of the A-P diameter and length to menstrual age were determined in cross-sectional and longitudinal studies of kidney growth. The results obtained confirmed that measurements of fetal kidney can be used as an additional parameter in the routine assessment of fetal well being and to rule out kidney malformations characterized by changes in kidney size.

Female↗
PubMed1983

[Prenatal diagnosis of a case of familial recurrence of unilateral diaphragmatic agenesis].

Prenatal diagnosis of different fetal malformations have been performed by echography. The authors report a case of recurrence of monolateral diaphragmatic agenesy in sibs. The diagnosis was achieved at the 23 degrees week of gestation. Some methodological details are also proposed to improve the possibility of early diagnosis. Embryological and epidemiological data have been evaluated.

Adult↗
PubMed1981

Alpha 1-antitrypsin in patients with hepatocellular carcinoma and chronic active hepatitis.

Forty-seven Italian patients suffering from hepatocellular carcinoma (HCC) and 58 patients with chronic active hepatitis (CAH) were screened for alpha 1-antitrypsin (alpha 1 AT) levels and types and compared with a previously screened healthy Italian population. Serum alpha 1 AT concentrations were significantly raised among the HCC patients compared to the controls, whereas the CAH group showed no differences. The incidence of non-M phenotypes (MS, MZ and S) is significantly higher in patients with HCC than in the CAH group and the controls. The mean age of HCC patients with a non-M phenotype is significantly lower than the mean age of HCC patients with an M phenotype.

Adult↗
PubMedDate not supplied

X-linked mental retardation with marfanoid habitus: first report of four Italian patients.

We report on 4 new cases of mildly retarded patients with marfanoid habitus and a characteristic constellation of minor anomalies. These patients, although sporadic, are likely to be affected by the same X-linked type of mental retardation described by Lujan et al. (American Journal of Medical Genetics 17:311-322, 1984) and more recently by Fryns and Buttiens (American Journal of Medical Genetics 28:267-274, 1987). The similar psychiatric history in 2 of our patients suggests that psychotic behaviour could be an additional manifestation, previously unrecognized in this condition. Late diagnosis of this relatively new syndrome in all our patients confirms the difficulty of the nosologic definition of mentally retarded individuals on clinical grounds alone. On the other hand, the Lujan-Fryns syndrome appears to be more common than one would have thought.

Abnormalities, Multiple↗
PubMedDate not supplied

[Syndromes in outpatient experience].

We report our experience as clinical geneticists and pediatricians in the management of patients affected by multiple congenital malformations and genetic syndromes. Our aim is to demonstrate that etiological diagnosis, crucial for successful management and counselling, has to be considered the first step in the care of these patients and their families. Coordination of medical interventions, clinical follow-up and psychosocial support have to be included in every out-patient program in this field. Diagnostic approach has to be carried out through a specific methodology which includes extensive clinical expertise in dealing with children affected by multiple congenital anomalies, protocols for major clinical problems, facilities for specific investigations (cytogenetic laboratory, molecular genetics, ecc.), computerized programs for recognising rare syndromes, network of motivated specialists (neurology, ophthalmology, orthopedics, etc.) and possibility of collegial discussion of undiagnosed patients. Psychosocial support and follow-up have to be achieved through trained professionals. Our 5 years of experience in this field (1420 patients) suggest the need for an organized network of services. This could provide the families of children affected by genetic syndromes with a comprehensive management and support program which is lacking in the present health care system.

Abnormalities, Multiple↗