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Biomedical subjects

A Forabosco

Publications and source records attributed to A Forabosco.

At least 73 records · Page 4Linked to original sources
PubMed1991

A new family with chorioretinal dystrophy, spinocerebellar ataxia and hypogonadotropic hypogonadism (Boucher-Neuhäuser syndrome).

A family is described in which two brothers have spinocerebellar ataxia, hypogonadotropic hypogonadism and chorioretinal dystrophy. This report provides further evidence to support the previous suggestion that this triad of manifestations represents a specific single-gene disorder, designated Boucher-Neuhäuser syndrome. Analysis of affected individuals shows that neurological signs usually develop during adolescence or young adulthood (range: early childhood-fourth decade) and are slowly progressive or non-progressive, whereas ophthalmologic manifestations have an age of onset which varies from the first to the sixth decade of life and a pronounced variability in progression.

Adult↗
PubMed1990

Distal 12p deletion in a stillborn infant.

A stillborn female with a "de novo" deletion of band 12p13 is described. Her main clinical manifestations are intrauterine growth retardation, unilateral cleft lip, protruding tongue, and small, low set, and posteriorly angulated ears. Comparison of this case with 4 previous reported patients with an isolated distal del(12p) fails to show significant common phenotypic characteristics.

Abnormalities, Multiple↗
PubMed1990

Ring chromosome 7: report of the fifth case.

A 13-year-old boy with a 46,XY,r(7) karyotype presented with growth failure, microcephaly, achromic spots and multiple pigmented naevi. Psychomotor development was normal and no major malformations were present. Comparison with four previously reported patients with ring chromosome 7 shows that the most frequent findings in these subjects were short stature, microcephaly and dermatological abnormalities.

Adolescent↗
PubMed1990

Molecular analysis of the Rett syndrome using cDNA synapsin I as a probe.

A cDNA encoding for rat synapsin I, a neuron-specific protein localized on the cytoplasmic surface of synaptic vesicles and probably involved in the regulation of neurotransmitter release from nerve terminals, has been used to map the human gene to the short arm of the X chromosome. We have screened, using this cDNA, the DNAs of six unrelated girls with the Rett Syndrome (RS) to test the hypothesis that mutations of the human synapsin I gene might cause RS. We found no alterations at the synapsin I (Syn I) locus in the vicinity of the probe sequence.

DNA↗
PubMed1990

Clonal structural chromosomal rearrangements in lymphocytes of four patients with Werner's syndrome.

Multiple numerical and structural chromosome abnormalities were found in cultured lymphocytes of four patients with Werner's syndrome. The proportion of metaphases with structural and/or numerical aberrations varied from 30 to 44% and several of them were clonal. These results confirm definitively that Werner's syndrome is a chromosome rearrangement syndrome and that these non-constitutional chromosome changes are not exclusive of cultured fibroblasts but present also in lymphocytes.

Adult↗
PubMed1989

Ring chromosome in a patient with MEN IIA S.

Three patients with MEN IIA S belonging to the same family, which has five affected subjects in two generations, have been studied. Constitutional karyotype examination identified an extra ring chromosome in 3% of the cells in one of the affected subjects. The number of rings for each cell varied, and different evolutionary aspects of the ring, such as doubling and interlocking, were present. Furthermore, asynchronous DNA replication of doubling rings was observed. This nonhomogeneous, nonrandom chromosome abnormality found in normal tissue of patients with MEN IIA S could be indicative of sensitivity to structural alteration of some chromosome regions.

Adult↗
PubMed1989

Fetal thymic differentiation in Down's syndrome.

Phenotypic features and proliferative ability of thymocytes, splenocytes and peripheral blood lymphocytes of 20-22 weeks human fetuses affected by Down's syndrome (DS) were studied and compared to those of fetuses of the same gestational age with a normal karyotype. In the thymus of both DS and normal fetuses, the great majority of cells was CD1+, CD2+, CD5+, CD4+, CD8+; using double fluorescence analysis, these markers could be detected on the same cell. About 50-60% showed CD3 antigen and about 40-50% presented the alpha beta T cell receptor. Thymocytes with NK markers (CD16, CD57, CD56) were not found. After stimulation with phytohemagglutinin, thymocytes showed a low but detectable proliferative capability, while splenocytes and peripheral blood lymphocytes showed a high responsiveness to the mitogen. These data show that the impaired immune system in DS is not associated with gross abnormalities of phenotypic T cell development in the fetal thymus or with an inability of such fetal cells to proliferate after a mitogenic stimulus.

Antigens, CD↗
PubMed1988

Differences in carbohydrate tolerance in Turner syndrome depending on age and karyotype.

Carbohydrate homeostasis was evaluated in 47 girls with Turner syndrome and in 25 "short normal" girls by means of an oral glucose tolerance test. Of the Turner patients 34% showed an impaired glucose tolerance vs 8% of the controls (chi 2 = 5.9, P less than 0.05). Mean glucose levels were significantly higher and mean insulin levels and insulinogenic index significantly lower in young Turner patients aged 5-12 years but not in adolescents aged 12-16 years. In both groups of patients, insulin levels and the insulinogenic index were significantly lower than those of the controls. In Turner patients between 12 and 16 years, carbohydrate tolerance improved and this may be explained by the lack of oestrogen release in these patients. Glucose tolerance was normal in patients with mosaicism. We conclude that (1) carbohydrate tolerance is defective in young children with Turner syndrome but improves in puberty due to the almost complete absence of oestrogen-progestogen secretion; (2) a difference in carbohydrate tolerance is evident depending on karyotype.

Adolescent↗
PubMed1988

The phenotype of partial dup(7q) reconsidered: a report of five new cases.

Five unrelated patients with partial trisomy 7q are described. In two of them the duplicated region was 7q21----qter and in the others 7q22----qter, 7q34----qter and 7q35----qter, respectively. Clinical features were compared with those reported in published cases. Karyotype-phenotype correlations showed a relationship between the size of the unbalanced region and the survival, and prenatal and postnatal growth. In contrast, the same proportionality was not demonstrated between the severity of dysmorphic features and the size of the duplicated region. However, cleft palate seemed associated rather characteristically with dup 7q22/31----qter.

Abnormalities, Multiple↗
PubMed1988

Heart disease in Turner's syndrome.

Fifty-five consecutive patients with Turner's syndrome and different karyotypes underwent full cardiological evaluation (physical examination, electrocardiogram, chest X-ray and echocardiogram). Congenital heart disease was found in 17%. When compared with the general population, a significantly higher incidence was present only for aortic coarctation and partial anomalous pulmonary venous drainage (p less than 0.001). Among cardiac anomalies in Turner's syndrome patients, aortic malformations (aortic coarctation, aortic stenosis, bicuspid aorta) are the most frequent, followed by partial anomalous pulmonary venous drainage, the incidence of which has been much higher than that previously reported. We have observed that the most severe malformations are preferably found in 45,X, while the ring pattern is characterized by a very high incidence of bicuspid aorta. No anomaly was found in the patients with X isochromosome.

Adolescent↗
PubMed1986

Met-enkephalin enhances follicle-stimulating hormone-dependent progesterone production from cultured granulosa cells.

beta-Endorphin (beta-EP) and methionine-enkephalin (Met-Enk) have been detected in human follicular fluid in concentrations several times higher than those in plasma. These data stimulated us to study the possible physiological role of ovarian opioids. We, therefore, determined the effects of both beta-EP and Met-Enk, alone or in combination with naloxone, on FSH-induced progesterone (P) secretion by cultured granulosa cells. Granulosa cells were collected from follicular fluid recovered at laparoscopy in seven superovulated women. The cells were preincubated with RPMI-1640 medium containing 20% fetal calf serum in 5% CO2 for 48 h, followed by the addition of 100 mU purified FSH and the various test substances for 48 more h. beta-EP (10 nM to 1 pM) had no effect on P secretion either alone or in combination with FSH and/or naloxone. Micro- to picomolar amounts of Met-Enk increased FSH-induced P secretion up to 186.9 +/- 35.1% (+/- SEM). Met-Enk had no affect in the absence of FSH, and its action was significantly blunted by the concomitant addition of 10(-5) M naloxone. These data provide evidence for a dose-dependent naloxone-reversible synergistic action of Met-Enk and FSH on P secretion by cultured granulosa cells. This finding supports the hypothesis of the existence of an ovarian opioid system.

Cells, Cultured↗