Search PubMed⌕ Search

Biomedical subjects

P Franceschini

Publications and source records attributed to P Franceschini.

At least 37 records · Page 2Linked to original sources
PubMed1996

Trends in HIV infection among sexually transmitted disease patients in Paris.

OBJECTIVE: To assess trends in HIV infection among sexually transmitted disease (STD) patients. DESIGN: Repeated unlinked anonymous survey, 1991-1993. SETTING: STD clinics in Paris, France. SUBJECTS: Patients (n = 4354) with a new suspected STD. METHODS: HIV antibody testing, using blood from syphilis samples. RESULTS: HIV prevalences were stable over time in all transmission groups. One-third of homo-/bisexual men were HIV-positive. Prevalence was 2.5 times higher among heterosexual patients from Africa or the Caribbean than among those from other countries. Among patients under 25 years of age prevalence significantly decreased from 4.3% in 1991 to 0.8% in 1993 (P = 0.01). Among homo-/bisexual men, despite a 50% reduction in the incidence of STD, the absolute number of those newly HIV-infected remained stable; median age increased from 28 years in 1991 to 32 years in 1993 (P = 0.02). Among heterosexuals, trends in HIV incidence were difficult to assess: recently infected patients were more likely to be identified in 1993 than in 1991, since the proportion of patients who reported a recent HIV-negative test increased over time. CONCLUSION: Prevalence studies contribute to define specific subgroups which should be targeted for prevention (HIV-positive or older homosexuals, heterosexuals from Africa and the Caribbean). Despite a decrease in both overall STD incidence and HIV prevalence among patients aged under 25 years, overall HIV incidence has not decreased, at least among homo-/bisexual men in whom recent HIV infections occurred at a high rate overall, and increased in those aged 35 years or more. Sentinel site-based HIV seroprevalence studies are best interpreted in the light of results obtained from different populations and through routine surveillance of STD.

Adult↗
PubMed1996

The Williams syndrome: an Italian collaborative study.

Williams syndrome (WS) is a multiple congenital anomalies/mental retardation syndrome caused by a microdeletion on the long arm of chromoome 7 including the elastin gene. Possibly it is a contiguous gene syndrome with autosomal dominant transmission. Seventy-seven WS patients from 11 Italian Pediatric-Dysmorphology-Genetics Units were collected by means of a questionnaire designed to draw a comprehensive clinical picture, to define the frequency of different traits and associations thereof, to better understand the clinical evolution, to improve the prognosis and to ameliorate the follow-up. The most important signs for diagnosis, based on their relative frequencies, are: mental retardation with characteristic outgoing behaviour and hoarse voice; facial findings like stellate iris, periorbital fullness and thick lips; congenital heart disease. The frequency of the clinical signs reported in our patients are on the whole concordant with those found in the literature; the only significant differences concern low stature, hallus valgus, hypoplastic nails, joint contractures and ear infections. The multisystemic nature of this syndrome requires a coordinated and integrated approach in order to avoid fragmentary interventions.

Abnormalities, Multiple↗
PubMed1995

Short rib-dysplasia group (with/without polydactyly): report of a patient suggesting the existence of a continuous spectrum.

We report on a patient with manifestations typical of Mohr syndrome and of the short rib (polydactyly) syndromes (SR(P)S) Majewski, Verma-Naumoff, Beemer, and Jeune. It seems possible that the different types of SR(P) syndromes, rather than being distinct conditions, are part of a large disease spectrum. The frequent overlap between orofaciodigital syndromes and SR(P) syndromes may be interpreted as the outcome of deletions of different size within the same chromosome region.

Abnormalities, Multiple↗
PubMed1995

Variability of clinical and immunological phenotype in immunodeficiency-centromeric instability-facial anomalies syndrome. Report of two new patients and review of the literature.

Immunodeficiency-centromeric instability-facial anomalies (ICF) syndrome is a condition characterized by variable combined immunodeficiency, developmental delay, facial anomalies and a variety of structural chromosomal rearrangements. Recently, aberrations at the molecular level have been described consisting of alterations in the methylation pattern of classical satellite DNA. To our knowledge 15 subjects have been described so far in the literature showing marked phenotypic variability. We report on two new patients with normal development and some peculiar clinical and immunological manifestations. All patients previously reported in the literature are reviewed. CONCLUSION. The identification of these two cases among our hypogammaglobulinaemic patients suggests that ICF syndrome is not a rare disorder and it should be always taken into account in immunodeficient patients with facial abnormalities.

Abnormalities, Multiple↗
PubMed1995

Pre-B acute lymphoblastic leukemia in a patient with partial lipodystrophy and acanthosis nigricans.

In patients with lipodystrophies a post binding defect in insulin action has been described involving phosphorylation of the beta subunit of the insulin receptor, suggesting the presence of a genetically determined defect in insulin action; the receptor gene has been mapped to the distal short arm of chromosome 19 close to the break-point of a specific chromosome translocation frequently found in pre-B Acute Lymphoblastic Leukemia (ALL). We report on a 13 years old female patient with partial lipodystrophy, acanthosis nigricans and insulin resistance who developed a pre-B ALL. Since lipodystrophy and pre-B ALL are rare disorders, a possible causal relationship between the two diseases is suggested possibly mediated by a mutation in the insulin receptor gene.

Acanthosis Nigricans↗
PubMed1994

Low-risk endometrial hyperplasia: hysteroscopy and histologic evaluation after treatment with LH-RH analogue.

Endometrial hyperplasia is an endometrial pathologic condition often found at perimenopausal age. Abnormal uterine bleeding (A.U.B.) is the most frequent symptom of endometrial hyperplasia. The combination of hysteroscopy and endometrial biopsy is the most suitable approach for the diagnosis of endometrial hyperplasia in symptomatic patients. We have studied endometrial modifications due to LHRH-analogue in 75 patients with AUB and with a hysteroscopic and histologic picture of low-risk endometrial hyperplasia. LHRH analogue is a valid treatment for all estrogen induced pathologies, because of its suppressive action on hypothalamic-hypophysary gonadotropins. The administration of LHRH for 4 months induced an improvement of the menstrual cycle within the first month of treatment in 53.3% of cases. At the end of treatment 100% of the patients were in amenorrhea. The hysteroscopic follow-up at 3 months showed an endometrial thinning with a tendency to hypoatrophy of the mucosa in 72% of cases. Three months after the end of treatment 20 patient had regular menstrual cycles and hysteroscopic and a histologic picture of normal endometrium. Only 30 patients had persistent amenorrhea with a consequent hysteroscopic and histologic picture of endometrial hypoatrophy. The use of LHRH analogue seems to have a great impact on the management of estrogen-dependent gynaecological benign diseases.

Adult↗
PubMed1993

Lower lip pits and complete idiopathic precocious puberty in a patient with Kabuki make-up (Niikawa-Kuroki) syndrome.

We report on a 13 1/2-year-old patient with Kabuki make-up syndrome and complete idiopathic precocious puberty manifested at 7 1/2 years. In addition to the other specific clinical signs, she showed hypodontia and lower lip pits, as typically seen in the Van der Woude syndrome. The significance of lower lip pits in the Kabuki make-up syndrome is discussed.

Abnormalities, Multiple↗
PubMed1993

Inguinal hernia and atrial septal defect in Tel Hashomer camptodactyly syndrome: report of a new case expanding the phenotypic spectrum of the disease.

We report on a girl with Tel Hashomer camptodactyly syndrome (THCS) born to first-cousin parents. In addition to the usual findings, the patient had bilateral inguinal hernia and atrial septal defect, not previously described as component manifestations of the syndrome. The present description expands the phenotypic spectrum of the syndrome and gives new support to the hypothesized pleiotropic effects of the THCS gene on connective tissue.

Abnormalities, Multiple↗
PubMed1993

[Hysteroscopic evaluation of female infertility].

Three-hundred-seventy-one infertile patients underwent hysteroscopic evaluation. The test was performed in an outpatient setting without any form of anesthesia. A comparison has been made among this technique, the hysterosalpingography and ultrasounds: hysteroscopy showed to be more accurate in the evaluation of intracavitary pathology, because of its capability to obtain a direct view of the uterine cavity. We can evaluate hysteroscopically nature, dimension and localization of the lesions. However HSG remains the best technique for the study of tubal factors of infertility. We think that hysteroscopy should be used besides other diagnostic methods, in order to obtain a better evaluation of the infertile patients.

Adult↗
PubMed1992

Possible relationship between ulnar-mammary syndrome and split hand with aplasia of the ulna syndrome.

We describe a 3-generation family in which mother, maternal grandfather, and 2 (male and female) children have variably manifestations of the ulnar-mammary syndrome, including ulnar ray defects, obesity, hypogenitalism, delayed puberty, hypoplasia of nipples and apocrine glands, and a previously undescribed ectopia of upper canines. The index patient also had split-hand appearance on the right due to complete absence of the 4th ray. To our knowledge this is the first documented example of split hand in the ulnar-mammary syndrome. The hand anomaly raises the question of a possible causal relationship between ulnar-mammary syndrome and the split hand with aplasia of the ulna syndrome, as already hypothesized by Lenz [1980].

Abnormalities, Multiple↗
PubMed1992

Kenny-Caffey syndrome in two sibs born to consanguineous parents: evidence for an autosomal recessive variant.

We report on 2 sibs with manifestations of the Kenny-Caffey syndrome born to normal, consanguineous parents. Clinical manifestations included dwarfism, internal cortical thickening and medullary stenosis of tubular bones, poorly ossified skull bones, and hypocalcemia. The younger of the two died during a tonic convulsion. The older had neonatal hypoparathyroidism and is now a short intelligent, 1-year-old child. This family gives new support to the existence of an autosomal recessive variant of the syndrome.

Abnormalities, Multiple↗
PubMed1992

[Myomectomy via hysteroscopy. Indications, technics, results].

Nowadays operative hysteroscopy represents the elective treatment of submucous and partially intramural fibroids. Seventy patients underwent hysteroscopic resection of fibroids, because of abnormal uterine bleeding in 58 (82.8%) cases, and infertility in 12 (17.2%) cases. The evaluation of the lesion was performed by diagnostic hysteroscopy and abdominal (57 patients) or transvaginal (13 patients) ultrasounds. In particular, for the evaluation of the intramural portion of the lesion, the hysteroscopic study of the angle between fibroid and myometrium was fundamental: the more acute the angle is the more intracavitary the myoma is. Forty-six (65.7%) out of 70 had a completely intracavitary fibroid; in 14 (20%) cases the intramural development was less than 1.5 cm and in the remaining 10 (14.3%) cases was more than 1.5 cm. Integration of hysteroscopy and ultrasounds for the assessment of myomas and the preoperative preparation by LH-RH analogues allow to perform an endoscopic resection of myomas which has up to, and sometimes over, 50% of their volume in the uterine wall.

Female↗
PubMed1992

[Diagnostic and therapeutic aspects of endometrial polyps].

The diagnostic and therapeutic utility of hysteroscopy in intracavity uterine pathologies is now widely recognised. The Authors have evaluated the efficacy of hysteroscopy in 640 patients in a study of endometrial polyps for which the endoscopic technique represents the elective form of therapy, avoiding excessive trauma to the patient and preserving the endometrial mucosa intact. The results obtained are fully discussed. Hysteroscopic resection of polyps was carried out in 49 patients in a day-hospital setting and without further complications.

Adult↗
PubMed1992

[Colpo-cyto-histological correlations in intraepithelial lesions of the uterine cervix].

The aim of this study was to assess the clinical efficiency of colposcopic findings as diagnostic tests for intraepithelial lesion using the analysis of colpo-cyto-histological correlations. The results of 3340 colposcopic tests performed in the Colposcopy Unit of the Second Clinic of Obstetrics and Gynecology between March 1990 and May 1991 were analysed, taking into account 326 (9.7%) cases of Abnormal Transformation Zone (ANTZ). The colpo-histological correlation in ANTZ 1 cases (52 cases of white epithelium, 92 standard mosaic, 42 standard dotted and 61 mixed cases) was 65.2% (52.3%) for HPV; 12.9% for CIN). The colpo-histological correlation in ANTZ 2 cases (30 cases of thickened white epithelium, 5 irregular mosaic, 4 irregular dotted, 2 atypical vessels, 4 thickened gland outlets and 6 mixed cases) was 70.5% (43.3% for HPV; 27.2% for CIN an and Ca). In this retrospective study colposcopy showed a diagnostic accuracy of 64.6% in the cases examined and played a decisive role in the diagnosis of intraepithelial lesions of the uterine cervix.

Colposcopy↗