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Biomedical subjects

G de Rosa

Publications and source records attributed to G de Rosa.

At least 19 recordsLinked to original sources
PubMed2000

GCG genetic expansions in Italian patients with oculopharyngeal muscular dystrophy.

OBJECTIVE: To screen Italian patients with oculopharyngeal muscular dystrophy (OPMD) for GCG repeat expansions in the Poly(A) binding-protein 2 (PABP2) gene. BACKGROUND: Oculopharyngeal muscular dystrophy is an adult-onset autosomal dominant muscle disease linked to 14q11 pathologically characterized by unique 8.5 nm intranuclear filaments in skeletal muscle fibers. Short expansions of a (GCG)6 repeat located in exon 1 of the newly isolated PABP2 gene have been demonstrated in a large number of OPMD families. METHODS: We studied 18 patients diagnosed with OPMD. A muscle biopsy was performed in 16 patients. Screening for the pathologic expansion was performed on a PCR amplified DNA fragment encompassing the GCG repeat. RESULTS: Heterozygous (GCG)-repeat expansions were detected in 13 patients in association with (GCG)6 normal allele or (GCG)7 polymorphic allele. All the patients whose muscle biopsy showed typical 8.5 nm intranuclear filaments had a mutated PABP2 allele. Five patients with no intranuclear filaments were homozygous for the normal (GCG)6 allele. The pathologic expansion appeared to be stable with no variation among family members and between different tissues as blood and skeletal muscle in the same individual. CONCLUSIONS: These data 1) further confirm PABP2 gene analysis as a valuable tool in OPMD diagnosis; 2) indicate that PABP2 gene mutations are always present among Italian patients with morphologically proven OPMD, suggesting genetic homogeneity of the disease; and 3) strengthen the putative role of mutated PABP2 protein in filamentous inclusions accumulation.

Adult↗
PubMed1999

A distinctive autosomal dominant vacuolar neuromyopathy linked to 19p13.

OBJECTIVE: To characterize a kindred with a distinctive autosomal dominant neuromuscular disorder. BACKGROUND: The authors studied a large Italian family affected by a progressive neuromyopathy. Ten individuals over three generations were affected. The disease was characterized by onset from the late teens to early 50s with distal leg weakness and atrophy, development of generalized muscle weakness with distal-to-proximal progression sparing facial and ocular muscles, dysphonia and dysphagia, pes cavus and areflexia, variable clinical expression ranging from subclinical myopathy to severely disabling weakness, and mixed neurogenic and myopathic abnormalities on electromyography. METHODS: Morphologic, immunocytochemical, and ultrastructural studies were performed in muscle biopsies from three affected patients. A genomewide linkage analysis through the genotyping of 292 microsatellite markers spanning the 22 autosomes was undertaken to map the disorder segregating in this family. RESULTS: All muscle biopsies showed variation of fiber size, panesterase-positive angular fibers, mild to severe fibrosis, and numerous "rimmed vacuoles." Electron microscopy failed to demonstrate the nuclear or cytoplasmic filamentous inclusions specific of inclusion-body myopathies and, accordingly, immunohistochemistry did not show any positivity with SMI-31 antibodies detecting hyperphosphorylated tau. Preliminary analysis of 292 microsatellite markers provided evidence for linkage to chromosome 19p13. CONCLUSIONS: This distinctive autosomal dominant disorder is characterized by a vacuolar neuromyopathy. Localization to chromosome 19p13 will allow the genetic relationship between this disease and inherited myopathies with rimmed vacuoles, in particular autosomal dominant inclusion-body myopathies, to be defined.

Adult↗
PubMed1999

Cyclin dependent kinase inhibitor p27Kip1 expression in normal and neoplastic cervical epithelium.

AIM: To investigate whether there is loss of the p27Kip1 protein in developing cervical cancer and whether p27Kip1 immunoreactivity has any relation to the proliferative indicator Ki-67. METHODS: The expression of p27Kip1 and Ki-67 was assessed by immunohistochemistry in serial sections from normal epithelium (13), low grade (27) and high grade (19) squamous intraepithelial lesions (LSIL, HSIL), and invasive cervical cancer (23). In the SIL cases the presence of human papillomavirus (HPV) genomic sequences was assessed by in situ hybridisation. The results were evaluated by image analysis, and reported as mean score of the percentage of p27Kip1 and of Ki-67 positive cells in each histological group. RESULTS: In general, p27Kip1 immunostaining was related to squamous differentation, and was intense in normal epithelium (47%), while it was reduced in SIL lesions as an effect of the decreased number of differentiating cells. However, decrease in the p27Kip1 expression was more evident in LSIL (36%) than in HSIL (39%); in the latter, p27Kip1 had a different intraepithelial distribution in that the staining extended to the basal cells. The average levels of p27Kip1 were similar in SIL lesions associated to low, intermediate, and high risk HPV types. Compared with normal epithelium and dysplasia, invasive cancer showed significantly lower p27Kip1 levels (23%). There was no relation between p27Kip1 and Ki-67 labelling indices in any of the histological groups examined. CONCLUSIONS: A reduction in p27Kip1 protein occurs in cervical cancer independently of the proliferative status. The changes in p27Kip1 expression may be related to the unregulated kinetics of developing cervical cancer.

Biomarkers, Tumor↗
PubMed1998

Fibrillary glomerulonephritis and Charcot-Marie-Tooth disease.

We report the case of a young white man with Charcot-Marie-Tooth disease type 1 that began at 4 years. At 15 years, he developed proteinuria, arterial hypertension, and renal insufficiency. Renal biopsy specimens studied by electron microscopy showed deposition of nonamyloidotic microfibrils. This is the first report of fibrillary glomerulopathy associated with this neurological disorder.

Actin Cytoskeleton↗
PubMed1997

[Changes in fetal karyotype in non-immune hydrops fetalis].

BACKGROUND AND METHODS: Among the pregnant patients who underwent an amniocentesis at our department of prenatal diagnosis (Division of Gynecology and Obstetrics of the University "Federico II" in Naples) from 1989 to 1996, 16 patients were affected by non-immune hydrops faetalis associated with chromosomal diseases. RESULTS: The karyotype test revealed at an ultrasound exam of the fetus that 11 cases were affected by trisomy 21, 4 cases by Turner syndrome and one case by trisomy 18. This study took into consideration all the pathogenetic factors and the diagnostic problems of non-immune hydrops faetalis in fetus affected by associated chromosomal associated anomalies. CONCLUSIONS: Since the incidence of the chromosomal anomalies on fetus affected by non-immune hydrops foetal is was very high, there was the necessity to carry out a routine karyotype test if the ultrasonography revealed anomalies of the hydrops, during the first three months of pregnancy.

Abnormalities, Multiple↗
PubMed1994

Microstructural disorders of tunica albuginea in patients affected by impotence.

The role played by the tunica albuginea in the erection mechanism seems to be very significant in promoting the constriction of sub-albugineal venous reticulum and trans-albugineal effluent veins, as well as providing an inextensible protective structure to the arteriolae and to the intracavernous nerves. The passive function exerted by the tunica albuginea is a result of its structure, which is rich in collagenic fibers, linked by elastic fiber bridges. The presence of structural disorders in the tunica albuginea of 16 patients suffering from psychogenic, arteriogenic and venogenic impotence is evaluated. The results obtained show a significant decrease in elastic fibers in the tunica albuginea of impotent patients compared to a control group of 5 patients with normal erection activity. This structural disorder could result in tunica albuginea alteration and, therefore, in erection insufficiency.

Adult↗
PubMed1992

Fine-needle aspiration biopsies of breast masses. An additional experience with 1153 cases (1985 to 1988) and a meta-analysis.

A series of 1153 fine-needle aspiration biopsies (FNAB) of breast masses obtained during the period 1985 to 1988 in one institution was examined. The following diagnostic accuracy values were found: sensitivity, 93.0%; specificity, 92.4%; predictive positive value, 93.7%; and efficiency, 92.8%. These results were compared with a previously published series for the period 1976 to 1984. The diagnostic accuracy values did not differ significantly between the two series.

Biopsy, Needle↗
PubMed1992

Peripheral ameloblastoma: case report.

A case of peripheral ameloblastoma, a rare odontogenic tumour, is presented. This tumour appears to differ from endo-osseous ameloblastoma by the absence of local malignancy. It exhibits a less aggressive and destructive behavior and does not invade the underlying bone. Conservative treatment of the tumour is the treatment of choice.

Aged↗
PubMed1992

Gingival localization of fibrosarcoma of soft oral tissues: case report.

A gingival localization of fibrosarcoma of soft oral tissues was described in a 58-year-old female. Primary fibrosarcoma of the head and neck region is rare. The histological appearance of the tumour is related to its grade of differentiation. The amount of collagen is variable. The accepted treatment is radical surgery; but metastases occur frequently in the lungs.

Female↗
PubMed1990

Comparative morphometric analysis of aggressive and ordinary basal cell carcinoma of the skin.

A morphometric analysis was performed on histologic sections of 11 cases of aggressive basal cell carcinoma that recurred and/or metastasized after the first diagnosis (BCC2) and on 11 ordinary basal cell carcinomas (BCC1). The considered parameters were as follows: nuclear area, perimeter, maximum diameter, feret x, feret y, form perimeter, and form area. The results show numeric differences between the two groups for the first five parameters. A statistical analysis was performed between BCC1 and BCC2 for all the considered parameters using a two-sided t test for independent samples. The test showed significant differences between the first five parameters except for the two form factors. A multivariate analysis was performed using area and perimeter values of the compared groups that amplified the discrimination threshold between the two groups. The authors conclude that a morphometric assessment may bring significant contribution in the knowledge and in the outcome prediction of basal cell carcinoma.

Aged↗
PubMed1989

Verruciform xanthoma of the vulva: case report.

A rare case of verruciform xanthoma of the vulva is reported. Diagnosis was made possible by histopathological examination and immunohistochemical staining. Verruciform xanthomas generally occur in the oral cavity. To the best of our knowledge, this is the third reported case of the tumour located on the genital mucosa. Immunohistochemical study supported the histiocytic origin of the lesion. Clinically, verruciform xanthomas may mimic other verrucous lesions of the vulva, such as seborrhoeic keratosis, verruca simplex, condyloma acuminatum, verrucous carcinoma, or erythropasia of Queyrat, or conditions such as histiocytosis, cutaneous lipidosis, or granular cell myoblastoma. The characteristics that differentiate those conditions from verruciform xanthoma, which can be seen only on histology, are given.

Aged↗
PubMed1983

Endocrine study of anorexia nervosa.

The main objective of the study was to evaluate the endocrinological picture of anorexia. The sample consisted of 23 anorectic patients (20 females, 3 males) with a control group of 10 normal females and 5 normal males. All participants underwent a work-up which included testing for hypothalamic, hypophyseal, thyroidal, adrenal, gonadal functioning and glucose metabolism. Our results revealed a reduced urinary output and low serum levels of gonadotropins with different responses to LHRH correlating with the stage of the illness. We found reduced urinary estrogens and elevated testosterone levels in females. Males demonstrated a reduction of testosterone. While basal prolactinemia was normal in both sexes, males showed an exaggerated response to TRH. The thyroid function study in anorectic patients revealed a decrease in T3 and in free T3 and an increase in reverse T3. Free T4 was slightly increased with normal T4 levels. Basal TSH was normal with a delayed peak after TRH. We also noticed in the anorectic population reduced basal glucose levels with a flat glucose curve; reduced insulin levels with a slight increase after glucose administration; elevated basal GH with a fair response to L-Dopa; elevated serum cortisol with loss of circadian rhythm and slightly inhibited by dexamethasone. In addition, both noradrenalin and VMA were reduced. We concluded that the multiple endocrine abnormalities found are consistent with hypothalamic dysfunction. The etiology of this dysfunction remains for the endocrinologist highly controversial.

Adolescent↗
PubMed1983

Thyroid function in altered nutritional state.

We studied plasma concentrations of TSH (basal and after TRH), thyroxine (T4), 3,5,3'-triiodothyronine (T3), 3,3',5'-triiodothyronine (reverse T3; rT3), free T4 and free T3 in thirty obese subjects, twenty patients with anorexia nervosa, fifteen malnourished subjects and twenty normal weight subjects. Total serum T4 values were similar for the four groups of subjects while serum free T4 values were slightly increased in anorexia nervosa and normal in the other groups. Serum total and free T3 levels were both significantly decreased in anorexia nervosa and malnutrition, and within normal limits in obesity. The mean serum rT3 level was increased in anorexia nervosa and malnutrition while was reduced in obesity. A delay in peak response of TSH to TRH stimulation (30' rather than 20') was noted in anorexia and malnourished patients. The results suggest that these alterations of serum iodothyronines are due to a different peripheral conversion of T4 to T3 according to nutritional status.

Adolescent↗