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G Neri

Publications and source records attributed to G Neri.

At least 163 records · Page 9Linked to original sources
PubMed1996

[Multifrequency tympanometry in Meniere's disease: preliminary results].

Tympanometry with 220 Hz probe tone mainly measures compliance related components of the middle ear. Only higher frequency probe tones provide information on mass related components. In order to study the behavior of the mass related components in endolymphatic hydrops, the Authors tested 15 Ménière's disease patients and 10 healthy subjects using multifrequency tympanometry. In both groups tympanometry with 220 and 678 Hz probe tone was employed to evaluate resonance frequency. The presence of a "camel hump" ([symbol: see text]) pattern obtained with the 678 Hz probe tone test indicated an elastic tympano-ossicular system (low point of middle ear resonance); the presence of an inverted "V" ([symbol: see text]) pattern showed a more rigid system (high point of middle ear resonance). In Ménière's disease carriers multifrequency tympanometry revealed 21 ears (70%) with a resonance frequency higher and 6 (20%) lower than 678 Hz. Three patterns (10%) were not classifiable. In the healthy group resonance frequency resulted lower than 678 Hz in 23 ears (57.5%); in 13 ears higher (32.5%). Four patterns (10%) were not classifiable. In Ménière's disease carriers the tympanometric patterns found with 678 Hz probe tone indicated the presence of a more rigid tympano-ossicular system.

Acoustic Impedance Tests↗
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↗
PubMed1996

[The history of nasal valve surgery].

Nasal valve surgery involves the Nasal Valve Area and its deformities, as well as its surrounding structures. Since there is no single technique to solve every type of pathology, there are numerous works on this topic in the literature. The rhinologist to perform such surgery should thoroughly deal with all the components (i.e. nasal valve area, nasal bones, tip, spine, vestibulum and turbinates). However, even more so, he should be able to precisely locate the cartilaginous and/or osseous structural deformity impairing nasal air flow. Therefore, intuition and experience play a key role in planning such surgery. It is not easy to recognize the unique, or even more difficult, the partial defect the correction of which would improve overall nasal function. Every surgical technique has some "biologic cost": sclerosis, adhesions, and scar retraction. However, in this case the surgery could prove even more biologically costly as it could worsen the already poor nasal breathing. Therefore, the surgeon must strictly follow two basic rules: a) employ a proper approach to the region; b) do not endanger nasal valve function to satisfy esthetics. Valve area anomalies can be divided into primary and secondary. The latter are caused by trauma or surgery (1.2%). Among the wide range of techniques mentioned in the literature, the authors prefer the anatomical, surgical classification by Zijilker and Quaedvilieg as it incorporates the philosophy the rhinosurgeon must keep in mind when aiming to restore both nasal functions and esthetics through different, specific techniques.

History, 20th Century↗
PubMed1996

[Dobutamine echocardiography and positron emission tomography in the assessment of viable myocardium after a thrombolized acute myocardial infarction. Comparison with spontaneous recovery].

BACKGROUND: Aim of the present study was to compare the ability of low-dose (5-10 gamma/Kg/min) dobutamine echocardiography (DE) and of positron emission tomography (PET), performed after a thrombolized acute myocardial infarction (AMI), to predict the spontaneous functional recovery (SFR) of viable but akinetic myocardial segments. PATIENTS AND METHODS: Twenty-one pts were studied by DE, 10 +/- 2 days (DE1) and 31 +/- 2 days (DE2), after a thrombolized AMI, and by PET (18F-FDS, glucose load) within 7 days after DE2; a basal echo was also performed 3 months after AMI. The left ventricle was divided in 16 segments, both in echo and PET examination. DE viability was defined as improvement in wall motion of akinetic seg; PET viability was defined as an FDG uptake > or = 40% of the maximum. RESULTS: In the 89 akinetic segments, DE1, DE2 and PET, respectively, identified, 16, 27 and 60 viable segments; the concordance with PET, in viable and not viable segments, resulted of 50% for DE1 and of 62% for DE2. After 3 months 29/89 segments had a SFR. In comparison with SFR the sensitivity of DE1 and DE2 was lower (51% and 68%) than PET (89%); the specificity was higher for DE1 and DE2 (98% and 96%) respect to PET (43%). CONCLUSIONS: In comparison with DE performed 10 days after a thrombolized AMI, DE performed 30 days after AMI revealed a greater extension of viable myocardium and a greater diagnostic accuracy in predicting SFR of akinetic segments. The concordance between DE and PET is high, if all myocardial segments are considered, and lower, if only akinetic segments are considered; in fact, PET identifies, as viable, a greater number of segments. In comparison with SRF, DE revealed the greatest specificity and PET the greatest sensitivity.

Adrenergic beta-Agonists↗
PubMed1996

["Prolonged" decay test and auditory brainstem responses in the clinical diagnosis of the chronic fatigue syndrome].

The chronic fatigue syndrome (CFS) was formally defined to describe disabling fatigue of unknown etiology with immunologic disfunctions. In most cases occur abnormalities of neurophysiological tests. In this paper the Authors use the low (11 pps) and high (51-71 pps) frequency ABR for detecting the electrophysiological function of auditory brainstem responses and propose the "Prolonged Decay Test", a modified impedenzometric technique that explores any alterations of the stapedial contraction, as a new diagnostic test for CFS. Twenty-one patients with suspected CFS, with an age between 17 and 50 years, were examined and the instrumental data were correlated with the clinical findings. The results of the ABR study showed in the examined subjects no many abnormalities in the 11 pps frequency test. The high frequency stimulation trials (with 51 and 71 pps) proved many alterations in 10 patients (absence of the first wave in 6 cases, in 5 many wave latency delay and in 1 patient absence of the first wave and many wave latency delay). The high frequency trials showed no abnormalities in the 11 remaining patients. The clinical-audiological correlation showed a 61.9% of comparison with 33.3% of false negatives and 4.8% of false positives. The Prolonged Decay Test showed a 71.4% of clinical-audiological comparison with 23.8% of false negatives and 4.8% of false positives. The Prolonged Decay Test together with the ABR showed a 81.8% of clinical-audiological comparison with 18.2% of false negatives and 0% of false positives. These preliminary data show that the stapedial reflex together with the ABR test could be useful for the diagnosis of CFS.

Adolescent↗
PubMed1996

Cyclin D1 gene amplification in human laryngeal squamous cell carcinomas: prognostic significance and clinical implications.

The cyclin D1 (CCND1) gene is amplified, rearranged, and overexpressed frequently in human cancer, including squamous cell carcinoma. The gene dosage of CCND1 was examined in 51 primary laryngeal squamous cell carcinomas, and amplification of the gene was found in 9 (17.6%) cases. CCND1 amplification did not correlate with age, tumor localization and extension, cervical lymph node involvement, histopathological grading, and epidermal growth factor receptor levels. In a univariate analysis, CCND1 amplification, tumor extension, lymph node involvement, poor histological differentiation, and high epidermal growth factor receptor levels were correlated significantly with shorter overall survival. In a median follow-up period of 29 months, the overall survival rate was 71.4% for patients affected with tumors displaying a normal CCND1 dosage and only 25.0% for patients affected with tumors carrying amplified CCND1 (P = 0.0288). In a multivariate analysis, only CCND1 and tumor extension retained statistically significant prognostic values (P = 0.037 and 0.041, respectively). This is the first report in which CCND1 amplification is identified as a significant independent prognostic factor in laryngeal carcinoma. Evaluation of CCND1 amplification could be applicable to the clinical management of laryngeal cancer, allowing identification of patients with poor prognoses.

Adult↗
PubMed1996

Telomerase activity in human laryngeal squamous cell carcinomas.

The activation of telomerase has been shown to be an important step during tumorigenesis in a variety of malignancies and is associated with characteristics of cellular immortality, such as indefinite proliferative potential. We studied telomerase activity in a series of human laryngeal carcinomas. Thirty-six tumors from 35 patients were studied using a sensitive PCR-based technique, the telomeric repeat amplification protocol assay. Telomerase activity was present in 32 tumors (89%), and the level of activity correlated with the stage of disease. In two of four telomerase-negative tumors, we found evidence of an inhibitor of telomerase activity. In many cases, samples of mucosa surrounding the tumor were also studied, and telomerase could be detected in 16 of 21 patients. For this reason, we proceeded to perform a topographical analysis that demonstrated a pattern of telomerase activity suggestive of a spread of telomerase-positive cells. In conclusion, these data indicate that telomerase activation is important for laryngeal carcinogenesis and that telomerase assay might be a valuable addition to determine the spread of the disease.

Carcinoma, Squamous Cell↗
PubMed1995

Genetic homogeneity between childhood-onset and adult-onset autosomal recessive spinal muscular atrophy.

Molecular diagnosis of childhood proximal spinal muscular atrophy has been enhanced by the discovery of the survival motor neuron (SMN) gene, which is absent or truncated in 98.6% of patients. To determine whether deletion analysis of the SMN gene may also be diagnostic for adult-onset disease, we studied six patients and found deletions in all. This finding will facilitate the diagnosis of adult-onset spinal muscular atrophy, and provides evidence for genetic homogeneity between the clinically diverse adult and childhood forms of the disease.

Adult↗
PubMed1995

Molecular alterations of the AKT2 oncogene in ovarian and breast carcinomas.

The AKT2 gene is one of the human homologues of v-akt, the transduced oncogene of the AKT8 virus, which induces lymphomas in mice. In previous studies, AKT2, which codes for a serine-threonine protein kinase, was shown to be amplified and overexpressed in some human ovarian carcinoma cell lines and amplified in primary tumors of the ovary. To confirm and extend these findings, we conducted a large-scale, multicenter study of AKT2 alterations in ovarian and breast cancer. Southern-blot analysis demonstrated AKT2 amplification in 16 of 132 (12.1%) ovarian carcinomas and in 3 of 106 (2.8%) breast carcinomas. No AKT2 alteration was detected in 24 benign or borderline tumors. Northern-blot analysis revealed overexpression of AKT2 in 3 of 25 fresh ovarian carcinomas which were negative for AKT2 amplification. The difference in the incidence of AKT2 alterations in ovarian and breast cancer suggests a specific role for this gene in ovarian oncogenesis. No significant association was found between AKT2 amplification and amplification of the proto-oncogenes MYC and ERBB2, suggesting that amplification of AKT2 defines an independent subset of breast and ovarian cancers. Ovarian cancer patients with AKT2 alterations appear to have a poor prognosis. Amplification of AKT2 was especially frequent in undifferentiated tumors (4 of 8, p = 0.019), suggesting that AKT2 alterations may be associated with tumor aggressiveness.

Adenocarcinoma↗
PubMed1995

Further contribution to the description of phenotypes associated with partial 4q duplication.

We report on a 15-year-old girl with a previously undescribed de novo duplication of segment 4q13.1-->q22.2. The origin of the extrachromosomal material on 4q was unequivocally established by fluorescent in situ hybridization with a chromosome 4 painting probe. Clinical manifestations included moderate mental retardation, destructive behavior, and minor physical anomalies. An analysis of the literature on partial 4q trisomy led us to identify a region comprising bands 4q22-q23, which may be involved in the development of the acrorenal field.

Abnormalities, Multiple↗
PubMed1995

Proximal femoral focal deficiency (PFFD) and fibular A/hypoplasia (FA/H): a model of a developmental field defect.

Proximal femoral focal deficiency (PFFD) and fibular a/hypoplasia (FAH) are distinct malformations of the lower limbs. Both can occur as isolated defects or in association with other limb malformations. In fact, fibular defects frequently are present in PFFD, and, conversely, femoral abnormalities can be found in the presence of a typical FAH picture. We report on 5 patients with a variable combination of femoral and fibular defects. In one of them unilateral PFFD was associated with lateral foot defects, in the absence of fibular abnormalities, and with a phenotype similar to that observed in the femoral hypoplasia/unusual face syndrome (FH/UFS). Another patient had isolated PFFD on one side, with controlateral absence of femur, fibula, and tibia. Another patient had a PFFD, fibular hypoplasia, and abnormalities of fibular foot rays, and the last 2 patients, a father and son, had, respectively, bilateral foot malformations plus fibular and tibial hypoplasia in the father and a PFFD in the son. These observations represent a further demonstration of the existence of a fibular developmental field, and contribute to the definition of its spatial boundaries. The variable involvement of elements comprised in the developmental field can be explained by multifactorial etiology.

Abnormalities, Multiple↗
PubMed1995

Ulnar ray defect in an infant with a 6q21;7q31.2 translocation: further evidence for the existence of a limb defect gene in 6q21.

Ectrodactyly is a developmental defect of the distal limbs characterized by marked clinical variability and genetic heterogeneity, also reflected in the observation of different chromosome abnormalities non randomly associated with longitudinal postaxial limb deficiencies. The one most frequently found in patients with split hand-split foot (SHSF) involves chromosome band 7q22. Recently, structural anomalies of chromosome 6q21 have been reported in 2 unrelated patients with SHSF, suggesting that this region may also contain genes responsible for limb development [Braverman et al., 1993. Am J Hum Genet, suppl 53: 410; Viljoen and Smart, 1993. Clin Dysmorph 2: 274-277]. We report on a third patient who had a de novo, apparently balanced t(6;7)(q21;q31.2) translocation and bilateral ulnar aplasia with postaxial oligodactyly. In spite of the different phenotypic effects observed in these 3 patients, we consider our case as further evidence that genes in 6q21 may play a role in distal limb development.

Chromosome Banding↗
PubMed1995

Double autosomal/gonosomal mosaic aneuploidy: study of nondisjunction in two cases with trisomy of chromosome 8.

We report cytogenetic and molecular investigations performed in two cases of mosaic trisomy 8 combined with mosaic sex chromosome aneuploidy. In a 35-year-old female, presenting with short stature, gonadal dysgenesis, and a multiple congenital anomalies/mental retardation syndrome typical of trisomy 8, chromosome analysis from peripheral lymphocytes showed the presence of three cell lines, whose karyotypes were 45,X (59.2%), 46,X,+8 (1.2%), and 47,XX,+8 (39.6%), respectively. The same cell lines were found in a skin fibroblast culture, though in different proportions. The second patient, a 9-month-old male with multiple skeletal abnormalities, showed a 47,XY,+8 and a 47,XXY cell line in both peripheral lymphocytes (61.7% and 38.3%, respectively) and skin fibroblasts (92.8% and 7.2%, respectively). To determine the events underlying the origin of these complex karyotypes we performed Southern blot and polymerase chain reaction (PCR) analysis using polymorphic DNA markers from the X chromosome and from chromosome 8. Both supernumerary chromosomes 8, and, in case 2, the two X chromosomes, appeared to be identical, lacking detectable recombination events. We conclude that, in both cases, the most likely mechanism underlying the origin of the mosaic cell lines was formation of a normal zygote, followed by mitotic errors during early divisions.

Abnormalities, Multiple↗