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Biomedical subjects

A Forabosco

Publications and source records attributed to A Forabosco.

At least 55 records · Page 3Linked to original sources
PubMed1996

Mutations in GPC3, a glypican gene, cause the Simpson-Golabi-Behmel overgrowth syndrome.

Simpson-Golabi-Behmel syndrome (SGBS) is an X-linked condition characterized by pre- and postnatal overgrowth with visceral and skeletal anomalies. To identify the causative gene, breakpoints in two female patients with X;autosome translocations were identified. The breakpoints occur near the 5' and 3' ends of a gene, GPC3, that spans more than 500 kilobases in Xq26; in three families, different microdeletions encompassing exons cosegregate with SGBS. GPC3 encodes a putative extracellular proteoglycan, glypican 3, that is inferred to play an important role in growth control in embryonic mesodermal tissues in which it is selectively expressed. Initial western- and ligand-blotting experiments suggest that glypican 3 forms a complex with insulin-like growth factor 2 (IGF2), and might thereby modulate IGF2 action.

Abnormalities, Multiple↗
PubMed1996

A comparative study of a surgical method and scaling and root planing using the Odontoson.

This investigation compared a traditional periodontal surgical method with a non-surgical treatment of scaling and root planing by an ultrasonic device (Odontoson M) using irrigation with an iodised solution. 8 adult patients with periodontal disease were each treated at 2 randomly chosen quadrants by a Widman flap type surgical technique, and the remaining non-surgically. The patients then attended bi-monthly oral hygiene sessions over a period of 1 year. At that stage, clinical evaluation revealed that the Odontoson M plus an ionized irrigant solution achieved a statistically comparable outcome to that of surgical treatment, even in the pockets initially up to 7 mm in depth.

Adult↗
PubMed1995

A panel of subchromosomal painting libraries representing over 300 regions of the human genome.

DNA samples from about 100 human-hamster somatic cell hybrids, previously characterized by conventional banding techniques, were amplified with dual-Alu PCR. The products were then used as probes in FISH experiments on normal human metaphases for an accurate cytogenetic characterization of the human material retained in each hybrid. In addition to entire chromosomes, most hybrids were found to contain one or a few chromosome fragments, as a result of rearrangements that had occurred in vitro. Forty additional primary hybrids, in which conventional cytogenetic analysis failed to reveal any complete human chromosome, contained many human chromosome fragments. More than 300 chromosome fragments were scored and their precise chromosomal location recorded. We show data indicating that subchromosomal painting libraries generated from these hybrids can be favorably used in the fine characterization of chromosomal rearrangements encountered in clinical cytogenetics or in tumor cytogenetics, and in tracking chromosomal changes that occurred in primate evolution.

Animals↗
PubMed1994

The growth of long bones in human embryological and fetal upper limbs and its relationship to other developmental patterns.

Measurements were made of the long bones of the upper limbs (humerus, ulna, radius) of 58 aborted embryos and fetuses, developmental age from 8 to 14 weeks, crown-rump length (CRL) between 38 and 116 mm. The specimens were cleared and double-stained, using alcian blue and alizarin red S for a differential detection of cartilage and bone. The values of both the total length (TL) and the ossified part (OL) of each long bone were related to the fetal developmental age previously estimated by freshly measured CRL. The relationship to another developmental pattern, i.e. the number of ossified centres in the vertebral column, suggested that the OL values could be much more significant than TL for the assessment of fetal growth.

Embryo, Mammalian↗
PubMed1994

A quantitative study on the spatial and temporal ossification patterns of vertebral centra and neural arches and their relationship to the fetal age.

A double-staining technique on 37 human embryos and fetuses (crown-rump length, CRL, between 38 and 116 mm) has been performed to study the ossification patterns of the vertebral column. Different growth sequences for centra and neural arches were observed. The survey of ossified centers suggested it was possible to relate significantly their appearance with the CRL. On the basis of already known data defining the developmental age in relationship to the latter parameter, we suggest their numerical evaluation as a further parameter for the assessment of the fetal age. Therefore, we have worked out a table that may be used either to determine the normal fetal growth, or when other parameters cannot be relied upon (i.e. in morphological diseases) for this aim.

Cervical Vertebrae↗
PubMed1993

Morphometric study of the human ovary during compartmentalization.

The volumetric composition of the human ovary during the compartmentalization stage has been investigated using current stereological methods. Eight left ovaries removed from three fetuses (developmental age 20-25 weeks), four neonates, and one 8-month-old child all with a 46,XX karyotype, free from malformations of the genital apparatus, were completely cut obtaining serial sections and one 1 micron-thick section every 1,000 microns was examined. Ovarian volume was 30 mm3 at the 20th week of development, 36 mm3 at the 25th week, 129 mm3 at birth, and 287 mm3 at the eighth postnatal month. The primitive cortical tissue was the largest component of the fetal ovaries (17 mm3, corresponding to 60.2% of the organ). The second component was the interstitium (21% of the organ), followed by the medulla (11.8% of the organ). The primordial follicles occupied a small part of the organs: 1.8 mm3 at 20 weeks and 3.4 mm3 at 25 weeks (respectively 6.7% and 5.4% of the volumes of the relevant ovaries). At birth, most of the organ was composed of interstitial tissue (57 mm3, 44.2% of the volume) followed by the medulla (25 mm3, 20.3% of the volume). The germinal tissue occupied 46 mm3, mainly primitive cortical tissue (14.9% of the ovary) and primordial follicles (16.3% of the ovary), with a minor contribution from the antral follicles (about 3% of the ovary).(ABSTRACT TRUNCATED AT 250 WORDS)

Female↗
PubMed1993

Developmental pathways of vertebral centra and neural arches in human embryos and fetuses.

The ossification pathways of both vertebral centra (i.e., vertebral bodies) and neural arches were studied in human embryos and fetuses (CR-length between 38 and 116 mm). A clearing and double-staining method for whole embryo or fetus, using alcian blue and alizarin red S, allowed an easy and precise detection of the morphology of the whole vertebral column and every single vertebra. Both cartilaginous and bony components were clearly visible. Different temporal and topographical patterns of ossification were shown for the centra and arches; the latter were respectively proximal-distal (i.e., bidirectional from a defined starting tract in T10-L1) and cranial-caudal (i.e., monodirectional). The patterns could be related to the morphogenetic processes of other structures (i.e., muscles and nerves). Moreover, the numerical survey of ossification centers provided a possible parameter for the determination of the fetal developmental age. This could be useful in the study of pathological conditions.

Alcian Blue↗
PubMed1993

Transthyretin-related TTR hereditary amyloidosis of the vitreous body. Clinical and molecular characterization in two Italian families.

Two unrelated Italian families affected by hereditary amyloidosis are described. Molecular genetic characterization demonstrated different mutations of the transthyretin gene. In all patients belonging to the TTR Ala 49 family the vitreous body, the heart and the peripheral nervous system were massively infiltrated by amyloid matter. In the TTR Pro 36 family vitreous opacities were the long-standing isolated manifestations of the disease. Two different patterns of vitreous deposits can be observed in these two families. The authors' data support the hypothesis that different pathological transthyretin proteins may have different affinity for the connective tissue in the vitreous.

Adult↗
PubMed1993

Human neonatal ovary: proposal of a three-dimensional model.

A model of human neonatal ovary is presented, derived from morphometric, evaluations carried out on left ovaries removed from five full-term neonates with a 46, XX karyotype, free from malformations of the genital apparatus. According to this model, the gonad can be represented by a triaxial ellipsoid with a central medullary core surrounded by a cortical stratum of constant thickness. The germinal population, consisting of follicles and primitive cortical tissue, occupies the cortex, intermingled with the interstitium or stroma. In the cortex it is then possible to describe an outer layer formed by primitive cortical tissue, and an inner portion occupied by follicles. The primary and secondary follicles fill the portion near the medulla and the primordial ones are contained in the middle and outer zones. Since the variability observed among ovaries is slight, we can propose a mean model of neonatal ovary in which the spatial relationships among the different components, the total number of follicles and their position in the cortex can be calculated.

Female↗
PubMed1992

Two transthyretin variants (TTR Ala-49 and TTR Gln-89) in two Sicilian kindreds with hereditary amyloidosis.

We report the biochemical and molecular characterization of two new transthyretin (TTR) variants in two Italian families with hereditary amyloidosis. Both families presented neuropathy and cardiomyopathy but they differ in other clinical features. These TTR variants were previously detected by isoelectric focusing (IEF); one is a neutral TTR variant and the other one is basic. By protein and DNA analysis the neutral variant was found to have a substitution of an alanine for a threonine residue at position 49 (TTR Ala-49) of the polypeptide chain. The basic variant has a glutamine residue replacing glutamate at position 89 (TTR Gln-89).

Amino Acid Sequence↗
PubMed1992

Efficacy of hormone replacement therapy in postmenopausal women with oral discomfort.

The increase in incidence of oral discomfort among women in a menopause is probably due to hormone modifications. This study evaluated the efficacy of hormone replacement therapy in 27 postmenopausal patients, aged 48 to 58 years, with oral discomfort and no local irritants and in 47 postmenopausal women with no oral discomfort. Patients were treated with conjugated estrogens for 21 days and medroxyprogesterone acetate from day 12 through day 21. Hormone-replacement therapy had no effect on oral cytology in the 40 symptom-free postmenopausal women compared with a group of 47 postmenopausal women who had no oral symptoms and were not treated. Hormone-replacement therapy relieved symptoms and improved oral cytohormonal features in 15 of 27 patients with symptoms. Nuclear estrogen receptors were found by immunohistochemical assay in 8 of 10 randomly selected patients with symptoms who responded to hormone-replacement therapy, but not in 2 patients who did not benefit from hormone-replacement therapy. Estrogen receptors were also found in 6 of 10 fertile women with no oral disease. Our results suggest that oral discomfort may be related to steroid hormone withdrawal only in some postmenopausal women and that replacement therapy may improve the clinical picture and cytologic features in this group of patients. Immunohistochemical identification of estrogen receptors may help to identify patients for whom hormone-replacement therapy may be beneficial.

Burning Mouth Syndrome↗
PubMed1991

Morphometric study of the human neonatal ovary.

A morphometric analysis, based on mathematical evaluations and stereological methods, has been used to study five left neonatal ovaries, removed from full-term neonates with a 46,XX karyotype free from malformations of the genital apparatus. Each ovary was completely cut obtaining serial sections and one 1-micron-thick section every 1,000 microns was examined. Ovarian length ranged from 9 to 17 mm (mean 13 mm), width from 3.5 to 7 mm (mean 5.7 mm), thickness from 2.5 to 5 mm (mean 4 mm), and volume from 82.23 to 198.3 mm3 (mean 125.88 mm3). In the ovarian cortex, primitive cortical tissue accounted for 10-20% of the total volume, follicles for 10-25% and interstitium for 35-45%; 10-30% of the organ consisted of inner medulla. The total follicle number ranged from 130,000 to 385,000 per ovary, with an average of 266,000 with 95% being represented by primordial follicles. In all ovaries examined follicular growth was still in process, with follicles at different stages of development.

Female↗
PubMed1991

Oral discomfort and hormone replacement therapy in the post-menopause.

We evaluated the incidence of oral discomfort in post-menopausal women and the efficacy of hormone replacement therapy in patients complaining of such symptoms. Two studies were performed. In the first, we compared oral discomfort and oral mucosa smears in 47 patients receiving replacement therapy and in 40 untreated post-menopausal women. In the second, the efficacy of hormone replacement therapy with oestriol vaginal cream (22 patients) or conjugated oestrogens plus norethisterone acetate (10 patients) was evaluated. In the first study, oral exfoliative cytology showed a similar maturation index and volume in both groups. In the second, hormone replacement therapy improved subjective and objective symptoms in 12 out of 22 patients treated with oestriol and in 7 out of 10 patients treated with conjugated oestrogens plus norethisterone. These data suggest that oestrogen deficiency can be considered a possible cause of oral discomfort in some post-menopausal patients and that oestrogen replacement therapy may improve subjective symptoms.

Cytodiagnosis↗