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Biomedical subjects

E Ricci

Publications and source records attributed to E Ricci.

At least 145 records · Page 8Linked to original sources
PubMed1991

Dominantly inherited mitochondrial myopathy with multiple deletions of mitochondrial DNA: clinical, morphologic, and biochemical studies.

We studied a large family with a dominantly inherited mitochondrial myopathy characterized by progressive external ophthalmoplegia, dysphagia, cataract, lactic acidosis, exercise intolerance, and early death. Morphologic studies of muscle biopsies suggested mitochondrial heteroplasmy and revealed ragged-red fibers and decreased histochemical reactions for cytochrome c oxidase and succinate dehydrogenase. Biochemistry showed a partial defect of cytochrome c oxidase and a mild generalized reduction of other mitochondrial enzymes requiring mitochondrial DNA-encoded subunits. Southern blot analysis and PCR amplification showed mitochondrial DNA deletions in muscle of all affected members, but not in lymphocytes or fibroblasts, suggesting a tissue-specific distribution. Deletions were multiple and seemed to increase with time and to correlate with the severity of the disease.

Adult↗
PubMed1991

[Role of diaphanoscopy in breast diseases].

The diagnostic value of diaphanoscopy in a series of 200 cases of breast diseases, all confirmed by cytohistologic examination, is illustrated. Diaphanoscopy showed a high sensitivity towards haemorrhagic cysts, early age fibroadenomas, adenosic dysplasia, haematomas as well as carcinomas.

Adult↗
PubMed1991

[Focal nodular hyperplasia of the liver associated with cardial achalasia, situs viscerum inversus and gastric mucosal ectopia in the duodenum].

The authors describe the clinical case of a young woman with a focal nodular hyperplasia (FNH) of the liver associated with achalasia of the cardia, situs inversus totalis and ectopy of gastric mucosa in duodenum, and discuss the etiopathogenic aspects of the hepatic lesion. The frequent association of the FNH with various malformations, as the literature and this case-report relate, seems to confirm the hypothesis of a dysgenetic hamartomatous origin. Therefore any liver single mass in a patient with a malformative syndrome must rouse the suspicion of a FNH.

Adult↗
PubMed1991

[Economic amputations of the lower limbs due to ischemia. I].

The problem relating to leg amputation following ischemia are analysed in the first part of this study, bearing in mind that amputation must be as conservative as possible in order to ensure the best quality of life. Following a short review of the topic and the introduction of recent trends, the case for amputation, which must be early in order to be conservative, is studied. The first part of this article concludes with a discussion of Doppler and clinical evaluations as techniques used to determine the level of amputation.

Amputation, Surgical↗
PubMed1991

[Economic amputations of the lower limbs due to ischemia. II].

In this second note, some technical details used during amputation are described, leaving out the systematic description of interventions. The analysis of the postoperative period shows that the more distal the amputation, the higher the incidence of local complication, while about postoperative mortality our data show an opposite trend. The Authors conclude by pointing out that an early indication and an accurate evaluation often allow a more distal amputation, that must be as conservative as possible anyway.

Amputation, Surgical↗
PubMed1991

Assessment of prehospital and hospital response in disaster.

The assessment of the response of a prehospital/hospital system to a disaster will prove a complex and challenging undertaking for those who attempt it. Data availability and quality will prove to be an immediate problem. Finding the time to devote to assessment is usually difficult. Identifying qualified and interested members of the required multidisciplinary team and, in particular, an individual with health services research background who can assist in all phases of the design and implementation of the project, is often difficult. Obviously, these problems will be less severe if they are addressed to some degree in the disaster plan. That is, a general protocol for assessment could be developed as part of the disaster planning effort and evaluation staff could tentatively be identified by position (e.g., emergency department medical director). The issue of data availability could be confronted and provisions made for the recording of at least minimal information on patient log forms under disaster conditions.

Disaster Planning↗
PubMed1990

Cardiomyopathy and multicore myopathy with accumulation of intermediate filaments.

A girl affected by a restrictive cardiomyopathy with neuromuscular involvement is described. Morphological examination showed a pattern of multicore myopathy and with electron microscopy a sarcoplasmic accumulation of electron dense granular and filamentous material was demonstrated both in skeletal muscle and heart. This peculiar electron dense material corresponded to increased desmin in muscle and cardiac fibres and was demonstrated immunohistochemically.

Adolescent↗
PubMed1990

Involvement of respiratory muscles in cytoplasmic body myopathy--a pathology study.

A muscle biopsy and autopsy study of a child who died at 14 months of respiratory failure is described. A diagnosis of infantile cytoplasmic body myopathy was made due to the high percentage of cytoplasmic bodies (CBs), particularly in respiratory muscles. No pathological abnormalities were found in the central nervous system, peripheral nerves or visceral organs. Immunohistochemical studies suggested that the central core of CBs was stained for fibrillary actin, being surrounded by a positive signal for desmin. A differential diagnosis as to other conditions involving proliferation of CBs is discussed.

Autopsy↗
PubMed1990

Biliary reflux after cholecystectomy: a prospective study.

The authors carried out a prospective study to ascertain whether cholecystectomy itself might be the cause of duodenogastric reflux. Patients with cholelithiasis were examined and underwent the following tests: hemanalysis, gastroscopy with biopsy, 24 hour pH-metry and acetaminophen test. Twelve patients were selected. Six months after the operation the tests were repeated. All patients were asymptomatic. Hemanalysis was normal in all 12 patients and no difference was seen in the tests of 5 of the patients; however in the other 7 differences were observed in all the tests. The authors conclude that cholecystectomy helps to provoke duodenogastric reflux in predisposed patients, and that this reflux may be asymptomatic.

Adult↗
PubMed1990

[Neck masses in childhood. Surgical experience in 154 cases].

Neck masses of children often constitute a complex problem of diagnosis and treatment. Despite the currently available diagnostic techniques, excisional biopsy still remains the procedure of first choice in a high percentage of cases to obtain a definitive diagnosis. In the present research, we analyze the problems of differential diagnosis and surgical treatment of neck masses in children, on the basis of 154 cases recruited in 20 years (at the Dept. of Surgery of the University of Pisa). Specific and unspecific lymphadenitis were observed in 26 (16.9%: and 18 cases 18 cases (11.7%), respectively. Hodgkins' lymphoma was present in 12 patients (7.8%). Thyroid disorders were diagnosed in 48 cases; 31 (20.1%) of these were benign, and 17 (11.1%) were malignant. Thirty-nine children showed congenital anomalies: 26 (16.9%) suffered from cysts of the thyroglossal duct, 10 (6.5%) from branchial abnormalities, and 3 (1.9%) from cystic lymphangioma. Two dermoid cysts (1.3%) and 2 parotid gland mixed tumours (1.3%) were also observed. The deep knowledge of embryology and anatomy of the neck, a careful clinic examination, an echography, as well as a fine needle-aspiration, seem thus essential to achieve the correct diagnosis and treatment.

Adolescent↗
PubMed1989

[Perforations in free peritoneum in Crohn disease].

Among Crohn's disease complications, perforation in free peritoneum is extremely rare, this being due to the disease's anatomopathological characteristics. Three cases of free perforation are described: one of the colon and two of the intestine. On the basis of the results of surgical treatment, straightforward suture of the perforation is contraindicated. The most rational treatment, when possible, is resection with immediate or deferred reconstruction.

Adolescent↗
PubMed1989

Distal infantile spinal muscular atrophy associated with paralysis of the diaphragm: a variant of infantile spinal muscular atrophy.

We report the clinical, electrophysiological, and morphological observations of five infants with an unusual form of spinal muscular atrophy (SMA). In these infants muscular weakness and atrophy were initially restricted to the distal limbs and this pattern was associated with paralysis of the diaphragm. The difference between the clinical manifestations of this syndrome and the classical form of infantile spinal muscular atrophy (SMA type 1) as well as other congenital hereditary neuropathies is discussed.

Atrophy↗