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Biomedical subjects

E Ricci

Publications and source records attributed to E Ricci.

At least 127 records · Page 7Linked to original sources
PubMed1992

Neurogenic pulmonary edema: a presenting symptom in multiple sclerosis.

Altered cardiovascular and respiratory function is uncommonly encountered in multiple sclerosis, though it may appear late in the course of the disease [4]. Episodes of acute ventilatory failure due to autonomic and/or voluntary respiratory function paralysis have already been described. These episodes are often accompanied by a focal neurological deficit which expresses lesion at the level of the medulla [6]. A demyelinating bulbar lesion leading to altered cardiovascular function is likewise infrequent but when it happens, bradycardia, postural hypotension [2], or acute pulmonary edema without heart failure may occur [1]. We present a case of non cardiogenic acute pulmonary edema which had neither a toxic insult nor an infective agent as etiology, but appeared as the initial manifestation of a multifocal demyelinating syndrome.

Adolescent↗
PubMed1992

Peripheral neuropathy with giant axons and cardiomyopathy associated with desmin type intermediate filaments in skeletal muscle.

A sporadic case (female, aged 14 years) is reported who was affected by myopathy, restrictive cardiomyopathy and sensory motor polyneuropathy. A muscle biopsy showed accumulation of osmiophilic granular and filamentous material on electron microscopy, which stained positively in immunofluorescence for desmin. Increased desmin phosphorylated isoforms have been demonstrated by one- and two-dimensional electrophoresis. Sural nerve biopsy showed a peripheral neuropathy with giant axons, filled with closely packed neurofilaments. Clinical and morphological aspects of this new disease entity are discussed with regards to the classical form of giant axonal neuropathy and to other conditions of peripheral neuropathy with giant axons.

Adolescent↗
PubMed1992

Melas: an original case and clinical criteria for diagnosis.

We describe the full history and postmortem findings in one of the first identified cases of mitochondrial encephalomyopathy with stroke-like episodes (MELAS). To clarify diagnostic criteria, we analyzed 69 reported cases. The syndrome should be suspected by the following three invariant criteria: (1) stroke-like episode before age 40 yr; (2) encephalopathy characterized by seizures, dementia, or both; and (3) lactic acidosis, ragged-red fibers (RRF), or both. The diagnosis may be considered secure if there are also at least two of the following: normal early development, recurrent headache, or recurrent vomiting. There are incomplete syndromes in relatives of patients with the full syndrome and incomplete syndromes might also be encountered in sporadic cases. Some MELAS patients have features of the Kearns-Sayre syndrome (KSS) or myoclonic epilepsy with ragged-red fibers (MERRF), but none had the full KSS syndrome. In partial or confusing cases, analysis of mitochondrial DNA (mtDNA) may point to the correct diagnosis; however, not all patients with clinical MELAS have had the typical mtDNA point mutation and some patients with the mutation have clinical syndromes other than MELAS.

Brain↗
PubMed1992

Fatal infantile liver failure associated with mitochondrial DNA depletion.

A 3-month-old girl was admitted to the hospital because of hypotonia and frequent vomiting. She had severe metabolic acidosis and her liver function was abnormal. Hepatomegaly and rapidly progressive liver failure developed, and she died at 4 months of age. Two half-siblings from a different mother had died in infancy of an undiagnosed myopathy. The liver was fatty and hepatocytes were filled with large and small lipid droplets. Other tissues were morphologically normal. The respiratory chain enzymes containing subunits encoded by mitochondrial DNA were markedly decreased in liver, partially decreased in muscle, but normal in other tissues. Southern blot analysis showed 90% depletion of mitochondrial DNA in liver, 53% depletion in muscle, and normal amounts in other tissues. This is the second case of fatal infantile liver failure associated with mitochondrial DNA depletion. This pathogenetic mechanism should be considered in infants with multiple respiratory chain defects and variable tissue expression.

Acidosis, Lactic↗
PubMed1992

Molecular analysis of the muscle pathology associated with mitochondrial DNA deletions.

Large-scale deletions of mitochondrial DNA (mtDNA) are associated with a subgroup of mitochondrial encephalomyopathies. We studied seven patients with Kearns-Sayre syndrome or isolated ocular myopathy who harboured a sub-population of partially-deleted mitochondrial genomes in skeletal muscle. Variable cytochrome c oxidase (COX) deficiencies and reduction of mitochondrially-encoded polypeptides were found in affected muscle fibres, but while many COX-deficient fibres had increased levels of mutant mtDNA, they almost invariably had reduced levels of normal mtDNA. Our results suggest that a specific ratio between mutant and wild-type mitochondrial genomes is the most important determinant of a focal respiratory chain deficiency, even though absolute copy numbers may vary widely.

Blotting, Southern↗
PubMed1992

Randomized placebo-controlled trial of oral liquid simethicone prior to upper gastrointestinal endoscopy.

It has been suggested that pre-procedural oral simethicone improves visibility in upper GI tract endoscopy. We examined three-hundred-thirty patients referred for upper endoscopy who were randomized and were required to swallow a placebo solution or one of three liquid simethicone solutions 15 min prior to the examination. These solutions contained 65 mg, 65 mg and 195 mg of drug dissolved in 90 ml, 30 ml and 90 ml of water, respectively. Patients treated with both dosages of simethicone revealed significantly less foam and bubbles in both the stomach and the duodenum compared to placebo. Only the 90 ml volume adequately cleared both locations. The reduction of examination time could be found both in patients with an intact stomach and in patients with or without gastric bile reflux, but was most striking in patients with previous gastric resection (examination time being reduced by almost 50% and the need of adjunctive lavage being reduced about 20 fold compared to placebo). In conclusion, pre-procedural oral simethicone should be routinely considered in patients with previous gastric resection. The utility of the drug is less evident in patients with normal gastric anatomy.

Double-Blind Method↗
PubMed1992

Disorders associated with depletion of mitochondrial DNA.

Quantitative defects of mtDNA have been recently described in patients with fatal mitochondrial disease of early infancy or mitochondrial myopathy of childhood. There was variable tissue expression and depletion of up to 98% of mtDNA in affected tissues. Pedigree analysis was compatible with mendelian inheritance, suggesting faulty communication between nuclear and mitochondrial genomes, but the primary molecular lesion is unknown. In muscle, morphological studies allowed to correlate mtDNA depletion, absence of mtDNA-encoded peptides, mitochondrial proliferation, and loss of cytochrome c oxidase (COX) activity in individual fibers.

Acquired Immunodeficiency Syndrome↗
PubMed1992

The mitochondrial tRNA(Leu(UUR)) mutation in mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS): genetic, biochemical, and morphological correlations in skeletal muscle.

Mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS) has recently been associated with an A----G transition at position 3243 within the mitochondrial tRNA(Leu(UUR)) gene. Besides altering the tRNA(Leu(UUR)) sequence, this point mutation lies within a DNA segment responsible for transcription termination of the rRNA genes. We have studied the distribution and expression of mutant mtDNAs in muscle biopsies from MELAS patients. Histochemical, immunohistochemical, and single-fiber PCR analysis showed that ragged-red fibers (RRF) are associated both with high levels of mutant mitochondrial genomes (greater than 85% mutant mtDNA) and with a partial cytochrome c oxidase deficiency. By quantitative in situ hybridization, the steady-state ratios of mRNAs:rRNAs were found to be similar to controls in six of eight patients studied. In two other patients the relative levels of heavy-strand mRNAs were slightly increased, but a patient with myoclonic epilepsy and RRF also exhibited a similar increase. These results directly correlate the A----G transition at mtDNA position 3243 with muscle mitochondrial proliferation, partial respiratory-chain impairment, decreased mitochondrially synthesized protein content, and no specific alterations in mitochondrial ratios of mRNAs:rRNAs.

Acidosis, Lactic↗
PubMed1992

Variability among geriatricians in the evaluation of functional disabilities and rehabilitation needs of the elderly.

A formal variability study has been carried out in a geriatric hospital in Genoa, Italy, in order to estimate the degree of agreement between geriatricians in disability and functional assessment, recommendation for rehabilitation treatments, need for mobility and daily activities aids, and decisions about optimal place of treatment (own home, sheltered housing, old peoples' home, nursing home). Sixteen long-stay geriatric patients, average age 83 years, were visited by eight geriatricians, a patient receiving from two to five visits. The participating physicians could visit the patients at their leisure, had access to clinical records and could interview a nurse well acquainted with the patient. A marked variability was observed for most items, e.g. the agreement concerning the recommendation for individual physiotherapy was only 52%. The results of this study may not be generalized to other situations and to actual practice; however, variability studies of this kind, that assess diagnosis habits, treatment and managerial decisions at the same time, may be useful to pinpoint the most important problems and to stimulate professionals' participation in proper Quality Assurance projects.

Aged↗
PubMed1992

Carotid body tumours. A review of eight cases.

Between 1968 and 1988, eight patients with carotid body tumour have been operated on at Istituto di Clinica Chirurgica at the University of Pisa. We undertook the follow-up of all these patients. Two of them presented with bilateral and familial lesions. There was no mortality or morbidity, except in one patient, who had the vagus resected because it was invaded by tumour. For investigation of familial occurrence we have found ultrasound very useful for screening.

Aged↗
PubMed1992

Multicentric breast tumour: an anatomical-clinical study of 100 cases.

Multicentric tumours (MT) represent a potential limit to the treatment by conservative surgery of cancer of the breast. In order to determine which anatomical-clinical features of breast cancer would indicate the highest risk of MT, we studied 100 patients with MT and 452 patients with unicentric tumours (UT), all of whom had been subjected to radical mastectomy during the period 1980 to 1988. Statistical analysis showed a significant difference between the two groups of parameters for bilateral breast cancer (with regard both to metachronous and synchronous lesions), for primary tumours of over 2 cm in size, for both lobular and invasive ductal histotypes and for involvement of the nipple-areola complex. Therefore, if the indications in favour of conservative surgery are applied accurately in combination with radiation therapy, the clinical and biological significance of multicentricity is minimized.

Adult↗
PubMed1991

[A case report of Castleman's disease in a patient with endometrioid adenocarcinoma of the ovary].

The Authors report a case of Castleman's disease in a 45-year-old woman. She was admitted to hospital because of a thrombophlebitis of the left lower limb. An abdominal echotomography showed evidence of a mass with a diameter of about 6 cm at the pancreatic isthmus, and a cyst (diameter 25 mm) in the right ovary. An explorative laparotomy was performed and the masses were removed. Histological examination identified them respectively as a Castleman's disease of hyaline-vascular type and an endometrioid carcinoma of the ovary.

Adenocarcinoma↗
PubMed1991

[Immunological variations after thymic stimulation with special reference to IL2-RS in patients operated for neoplasms].

The paper reports a study which was carried out to assess immunological function by assaying IL2 in cancer-operated patients treated with thymostimulin. The results of the study show that, used in normally fed, immunodepressed patients, this immunomodulator is able to normalise levels of lymphocyte subpopulations and to bring serum concentrations of IL2-RS to the levels of normoergic patients.

Adjuvants, Immunologic↗
PubMed1991

[Constipation: drug or surgical treatment?].

Constipation is a very frequent symptom. It affects 7-10% of people. Otherwise a severe constipation exists which is rare, but extremely serious with evacuations every 15 days to 2 months. We expose the classification of constipation in its types: colonic, rectal and anal. We analyse the diagnostic trial which has to be started with a careful anamnesis and well directed physical examination. Laboratory tests and instrumental investigations will be essential means to define exactly the type of constipation and its pathogenetic mechanism. We go deep into physical involvement of constipation and into the problem of constipation in the elderly: except for particular groups (women suffering from colonic hypokinetic constipation) the age of patient is usually old. Medical treatment is described especially regarding the type of constipation. At last we review the surgical techniques proposed for every form of constipation, with exposure and interpretation of their results.

Age Factors↗
PubMed1991

Neuromyopathy and restrictive cardiomyopathy with accumulation of intermediate filaments: a clinical, morphological and biochemical study.

The clinical, morphological and biochemical findings of a sporadic case, showing accumulation of desmin-type intermediate filaments in skeletal muscle and myocardium are described. Desmin storage was demonstrated by immunofluorescence, sodium dodecyl sulfate gel electrophoresis and two-dimensional gel electrophoresis. These findings are in agreement with those of Rappaport et al. (FEBS lett. 231:421-425, 1989). A sensory-motor polyneuropathy was established by electrophysiological studies and, ultrastructurally, intramuscular nerves showed accumulation of neurofilaments and neurotubules with formation of axonal spheroids. These findings are discussed considering all previous reports with related conditions.

Cardiomyopathy, Dilated↗
PubMed1991

Progressive depletion of fast alpha-actinin-positive muscle fibers in Duchenne muscular dystrophy.

In normal human muscle, a monoclonal antibody against alpha-actinin recognizes an isoform that is only expressed in a population of fast fibers histochemically identified as type IIb or fast-twitch glycolytic. Immunohistochemical studies of muscle biopsies from patients with Duchenne muscular dystrophy (DMD) showed that the number of alpha-actinin-positive type IIb fibers was essentially normal in preclinical patients. Symptomatic patients between the ages of 3 and 5 years showed depletion of these fibers, which were not seen in patients older than 5 years. ATPase histochemistry showed that a few type IIb fibers were present in muscle from symptomatic DMD patients but lacked the fast isoform of alpha-actinin. The data suggest that type IIb fibers are affected early in DMD.

Actinin↗