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Biomedical subjects

E Grandi

Publications and source records attributed to E Grandi.

At least 37 records · Page 2Linked to original sources

Neonatal spinal muscular atrophy with diaphragmatic paralysis is unlinked to 5q11.2-q13.

Two sibs affected by the severe neonatal form of spinal muscular atrophy (SMA) with diaphragmatic paralysis are described. The two sibs were discordant for the haplotypes determined by DNA markers flanking the SMA locus. This supports non-linkage of SMA to chromosome 5 in this family and indicates that the uncommon SMA type I variant associated with early onset respiratory failure maps outside the 5q11.2-q13.3 region.

Adult↗

Sudden death in diabetic subjects: evidence for a peculiar circadian variation in occurrence.

Anatomo-physiopathological and chronobiological features of 59 diabetic subjects out of 610 non hospitalized individuals observed for sudden death (SD) in an Emergency Room, over an 8-year period, were studied. Mean age and anatomopathological causes of SD were not different between diabetic (DMs) and non-diabetic subjects (NDs). However the frequency of DMs was higher among subjects who died from circulatory failure death (CFD), rather than from arrhythmic death (AD). Diabetics presented a prevalent peak incidence of SD in the afternoon-late evening; whereas in NDs two peaks were present, respectively in the morning and in the afternoon. According to anatomo-physiopathological causes, DMs presented a higher incidence of acute myocardial infarction (AMI) and CFD between 21:01 and 24:00, whereas in NDs the prevalent peak of AMI was observed in the early afternoon (13:01 to 16:00). Moreover, in DMs SD from acute myocardial failure prevalently occurred in the early afternoon (13:01 to 16:00), whereas in NDs it was uniformly distributed throughout the day. The present study seems to indicate that different anatomo-physiopathological causes of SD may present specific temporal patterns in diabetics.

Circadian Rhythm↗

Anatomoclinical and chronobiological aspects of sudden death in elderly subjects.

Anatomoclinical and chronobiological aspects of sudden death (SD) of 671 subjects observed at the Emergency Room of Ferrara Hospital from January 1983 to December 1991 were prospectively investigated. 3 groups stratified by age were considered: group A with age < 65 years (no. = 251, 37.4%), group B with age between 65 and 74 years (no. = 210, 31.3%), and group C with age > or = 75 years (no. = 210, 31.3%). SD was classified on the basis of either anatomopathological (i.e.: acute myocardial infarction, acute myocardial failure, intracerebral hemorrhage, rupture of aortic aneurysm, pulmonary embolism), and clinical findings (i.e.: arrhythmic death and circulatory failure death). Patients were grouped into six 4-hour periods according to the time of onset of symptoms, and circadian distribution was tested for uniformity by a chi 2 test for goodness of fit. The analysis found in group C an increased frequency of SD due to pulmonary embolism and rupture of aortic aneurysm, and an increment of males/females ratio in deaths from cardiac causes. In group C the mean age of SD, in particular from acute myocardial infarction, pulmonary embolism or arrhythmic death proved higher in females compared to males. Only for group B was a significant circadian periodicity found for SD from acute myocardial infarction and arrhythmic death, with a peak in the morning.

Age Factors↗

Structural changes of duodenum brush border in lung cancer patients treated with cisplatin plus etoposide.

The effects of cisplatin plus etoposide chemotherapy (PE) on the structure of proximal intestine villi and brush border were investigated in 10 patients with lung cancer. The day before starting chemotherapy (time 1); 8 days after its initiation (time 2), and one month after the 3rd course of PE (time 3) they underwent esophagogastroduodenoscopy and three biopsies were taken from the descending duodenum. Intestinal villi were examined by light microscopy; brush border by transmission electron microscopy. No significant histological changes of villous pattern were observed at times 2 and 3. The height of microvilli was reduced in seven patients at time 2 (P < 0.05). Microvilli abnormalities (i.e. rarefaction and/or heterogeneity in their height) were present in nine patients at time 2 (P < 0.05). Brush border appearance at time 3 did not differ from that at time 1. PE chemotherapy seems to have short-term toxic effects on small intestine brush border, but does not cause chronic enteropathy.

Adult↗

Sudden death may show a circadian time of risk depending on its anatomo-clinical causes and age.

The aim of this study was to determine whether the time of occurrence of sudden death exhibits a circadian rhythm depending on its different anatomoclinical causes. A longitudinal prospective investigation of 610 nonhospitalized subjects who died suddenly in the Emergency Room of Ferrara Hospital between January 1983 and December 1990 was conducted. All subjects underwent autopsy. Sudden death was classified on the basis of the following pathological causes; acute myocardial infarction, acute myocardial failure, intracerebral hemorrhage, rupture of aortic aneurysm, pulmonary embolism, and clinical causes, i.e., arrhythmia and circulatory failure. The investigated cases were stratified into 2 groups according to age; Group A = age < 70 years (n = 301, 49.3%), and Group B = age > or = to 70 (n = 309, 51.7%). The assessment of circadian rhythmicity was performed utilizing the single cosinor method. The results by cosinor analysis found a circadian rhythmicity for cases of sudden death (peak at 14.04, n = 610, p = 0.036), and in particular for females (peak at 13.12, n = 200, p = 0.004). Spectral analysis detected a statistical ultradian cycle in males having an 8-hour period (p = 0.015). A statistically significant circadian rhythm was found for cases of sudden death due to acute myocardial infarction (peak at 15.28, n = 330, p = 0.013), pulmonary embolism (peak at 11.46, n = 56, p = 0.003) and arrhythmia (peak at 13.08, n = 291, p = 0.04). In Group A no significant circadian rhythm was found, whereas in Group B a significant rhythmicity was found for sudden death from cardiac causes at 13.32 (n = 249, p = 0.015), from myocardial infarction at 15.02 (n = 154, p = 0.018) and from arrhythmia at 13.07 (n = 122, p = 0.014). Different circadian patterns of onset of sudden death may be shown in various subgroups of patients, due not only to different pathophysiologic mechanisms but also to anatomo-clinical aspects.

Age Factors↗

Functional surgery of ceruminoma of the external and/or middle ear.

The paper describes two cases of "Ceruminoma" of the external and/or middle ear, treated by conservative surgery. The authors illustrate, besides morphological and histological features of ceruminoma, the surgical treatment modulated on the basis of an exact identification of the lesions.

Adenoma, Sweat Gland↗

Risk factors in vulvar carcinoma recurrences.

18 patients with invasive vulvar carcinoma treated by radical vulvectomy and bilateral groin lymphadenectomy have been evaluated. An 18% of local and 22% of pelvic or distant recurrences occurred. The local recurrences had favorable prognosis, whereas the pelvic or distant recurrences a worse prognosis. The staging, the tumour size, the nodes involvement, the stromal infiltration and the lymphoplasmacytic infiltration, as prognostic factors, have been evaluated. All these factors, except the tumour size, influenced the pelvic or distant recurrences. The pelvic or distant recurrences were contemporaneously associated with mild phlogistic infiltration and depth of invasion > 5 mm.

Carcinoma, Squamous Cell↗

Sudden death from pulmonary thromboembolism: chronobiological aspects.

The aim of this study was to determine whether sudden cardiac death from pulmonary embolism exhibits any chronobiological rhythm. Five hundred and seven consecutive subjects dying suddenly outside of hospital and brought into our Emergency Department from January 1983 to December 1989 were studied. The time and date of event were accurately recorded. All subjects underwent autopsy and 48 of them were found to have died of pulmonary embolism (23 males, mean age 73.9 +/- 8 years and 25 females, mean age 76 +/- 12 years). All data were analysed by means of single cosinor[19,20]. In the subjects with pulmonary emboli both a circadian and a circannual rhythmicity were found, with a significant acrophase respectively in the morning (h.min. 11.46, P = 0.003) and in winter (-19.3, P = 0.009).

Aged↗

Betamethasone-induced lecithin release in vitro from the fetal membranes.

Lecithin release from fetal membranes and placental tissue was assayed in basal conditions as well as under betamethasone administration. In the absence of the steroid, amnion and chorion released lecithin as a function of incubation time. Both tissues responded to betamethasone by increasing the lecithin release, the amnion exhibited a higher basal level and a greater responsiveness to the hormone than the chorion. Basal lecithin release from placental tissue was unaffected by any steroid concentration.

Amnion↗

Surgical treatment of invasive carcinoma of the vulva. A reappraisal.

The Authors studied three groups of patients affected by invasive vulvar carcinoma. The first group (19 cases), treated by radical vulvectomy and bilateral inguinal lymphadenectomy, had a survival rate at 5 years of 89% in Stage I and 56% in Stage II. The second group (9 cases) which presented poor general health conditions, had a survival rate at 4 years of 33% and 14% in Stage I and in Stage II, respectively. The third group of patients (7 cases), who refused any type of treatment, died within 12 months. Nodal involvement influenced survival rate. In fact, regardless of the stage, a survival rate at 5 years of 92% and 26% was seen in patients with negative nodes and positive nodes, respectively. In conclusion, the study confirms that radical surgery is the therapy of choice in advanced carcinoma of the vulva. However, early diagnosis remains the most important agent in reducing the extension of the surgical treatment.

Aged↗

High frequency of p53 gene alterations associated with protein overexpression in human squamous cell carcinoma of the larynx.

A series of 58 primary human squamous cell carcinomas of the larynx (LSCCs) was examined for the expression of the p53 tumor-suppressor gene by a combined immunohistochemical and molecular approach. About 60% of the cases displayed nuclear p53 overexpression as revealed by immunostaining with PAb1801, PAb122 and PAb240 monoclonal antibodies. This phenomenon was associated with the presence of structural and/or transcriptional alterations of the p53 gene. Our results provide evidence that p53 abnormalities constitute the most frequent genetic alteration identified so far in LSCC and indicate that the abnormal accumulation of the protein correlates with the presence of p53-mutated versions. These findings, taken together with the peculiar biochemical properties of p53, support the hypothesis of a possible pathogenetic relationship between smoke carcinogen exposure and p53 inactivation in the development of this tumor type.

Antibodies, Monoclonal↗

[Dermoid cyst associated with planocellular carcinoma].

The case of an ovarian mature cystic teratoma with an associated squamous cell carcinoma is described. The patient, in advanced stage, died a few months after surgery, during the treatment by chemo and radiotherapy.

Carcinoma, Squamous Cell↗

Correlation of clinical diagnosis with autopsy findings.

We investigated 110 cases, selected at random out of the total of 1876 autopsies performed in the Institute of Pathological Anatomy and Histology at the University of Ferrara-Arcispedale Santa Anna on patients who had died at the hospital during 1983-87. Clinical data were taken from 'necropsy request forms' filled in by clinicians and from medical records. We then evaluated the extent of agreement and disagreement, expressed as underdiagnosis (false-negative) and overdiagnosis (false-positive), between the clinical and pathological records with regard to primary disease and to cause of death. Agreement between the diagnoses was 81% for primary disease and 58% for cause of death. The diagnoses of neoplastic, cerebrovascular and cardiovascular diseases showed the closest agreement. Among the neoplasms, those of the liver, gall-bladder, pancreas, retroperitoneal space and prostate were most often overlooked in clinical diagnoses. We had conflicting results for cancer of the lung and of the colon-rectum, for which there was a high level of agreement, but also a large number of false-positive cases and cases in which they were found by chance at autopsy. For cerebrovascular diseases, false-negative and false-positive diagnoses were seen most often for cause of death. With regard to cardiovascular diseases, a relatively uniform distribution was found for myocardial infarction among the three categories, and a high rate of agreement was found for pulmonary embolism. Of all diseases, bronchopneumonia was associated with the highest percentage of false-negative diagnoses for cause of death. Our data on digestive diseases show the strongest agreement on diagnosis of primary disease in relation to cirrhosis of the liver; a high rate of agreement on cause of death was confirmed for alimentary bleeding. Active tuberculosis was detected only at autopsy. We conclude that autopsy is a valid tool for investigation, despite the availability of sophisticated diagnostic techniques.

Adult↗

Acquired ciliary defects in bronchial epithelium of patients with chronic bronchitis.

In order to quantify and classify ciliary changes of bronchial epithelium in chronic bronchitis, an ultrastructural study on biopsy specimens of 30 patients submitted to bronchoscopy was performed. Fourteen patients were affected by endoscopically and clinically confirmed chronic bronchitis, 8 showed an endoscopic picture of chronic bronchitis but without the clinical features of this pathology, 8 were free of chronic bronchitis. The mean percentage of abnormal cilia in control subjects (1.9 +/- 1.0%) was significantly lower than in patients either with only 'endoscopic' chronic bronchitis (5.7 +/- 2.6%; p less than 0.001) or with 'clinical' chronic bronchitis (14.8 +/- 15.9%; p less than 0.05). Like the ciliary body, the ciliary tip can also show some abnormalities. It is possible to subdivide them in two types: (1) ciliary membrane blebs; (2) ciliary membrane extrusions, variously shaped and sized, with homogeneous content. Bronchial cilia abnormalities become more serious as soon as the clinical picture worsens and this is likely to contribute to the impairment of the mucociliary clearance in chronic bronchitis patients.

Adult↗