Alcoholic hyperlipidaemia.
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Acute Disease↗
Biomedical subjects
C Mariani
Publications and source records attributed to C Mariani.
Mutations in the HFE gene and their interaction with exogenous risk factors in hepatocellular carcinoma.
The possible role of iron in facilitating the development of liver cancer is still debated. The aims of this study were to define the prevalence of the mutations 845G --> A and 187C --> G (C282Y and H63D) in the HFE gene associated with hereditary hemochromatosis in Italian patients with hepatocellular carcinoma occurring in cirrhosis and to analyze the interaction between these mutations and other established risk factors for hepatocellular carcinoma. The HFE gene mutations, performed by polymerase chain reaction, were analyzed in 81 patients (63 males, 18 females) with hepatocellular carcinoma. None of the patients had a phenotype compatible with homozygous hereditary hemochromatosis. Interaction between HFE mutations and exogenous risk factors was analyzed by collecting information on alcohol consumption, hepatitis B and C virus infections, and iron status at the time of diagnosis of chronic liver disease. This analysis was performed only in males to rule out gender influence on patients' iron status by using the case-only approach specifically designed to estimate departure from multiplicative risk ratios under the assumption of independence between genotype and environmental exposure. The prevalence of the C282Y mutation was significantly higher in patients with hepatocellular carcinoma than in normal controls (8.6% vs 1.6%, P < 0.03). At univariate analysis, iron overload was significantly associated with both HFE mutations (P < 0.0001), whereas ongoing hepatitis B virus infection was associated with the C282Y mutation (P < 0.05). By multivariate analysis, a trend for an increased risk of being positive for hepatitis virus markers (OR 2.9, CI 95% 0.9-9.5) and of having been alcohol abusers (OR 3, CI 95% 0.7-14) was observed in patients heterozygous for the HFE mutations. These data indicate that the prevalence of the main mutation associated with hereditary hemochromatosis is significantly higher in cirrhotic Italian patients with hepatocellular carcinoma compared to a normal population and suggest that heterozygotes for HFE mutations exposed to hepatitis virus infections or who had been alcohol abusers could have an increased risk of developing cirrhosis and later liver cancer than people without the mutations exposed to the same risk factors.
Carcinoma, Hepatocellular↗
Idebenone induces oxygen consumption rate modifications in aged rat brain mitochondria.
Idebenone effects on oxygen consumption in brain mitochondria, obtained from young and aged rats, were evaluated. Sixty rats (3 and 20 months of age) were treated for 3 months with 30 mg/kg of idebenone and compared to a placebo group. Brain mitochondria oxygen consumption rate was measured by polarographic techniques in basal (State 4), ADP-stimulated (State 3) and uncoupled conditions. When Complex I substrates (pyruvate + malate) were used, aged non-treated rats showed a significant increase in State 4 (175%) and uncoupled (152%) O(2)-uptake rate; no difference was found in State 3 respiration and in ADP/O(2) ratio. Idebenone was able to reverse these age-related effects probably acting on lipid peroxidation and the mitochondrial respiratory chain. No differences were found in mitochondrial enzymatic activities.
Journal Article↗
[Clinical and anatomical features of a case of Schilder's disease (author's transl)].
A case of a Schilder's disease (1912 type) in a seven year old boy is described. The patient died after four months and autopsy was performed. The most important clinical features are represented by repeated electroencephalograms, immunologic investigations in both plasma and CSF as well as tests of adrenal function. Histopatological examination of the brain shows a diffuse sudanophilic orthocromatic demyelinating process of both hemispheres with intense vascular cuffing, microglial proliferation and astrocytic hypertrophy. These findings are in contrast with some recent statements in the literature which reject a nosographic individuality to Schilder's disease and describe "Adrenoleukodystrophies" on doubtful criteria.
Adrenal Insufficiency↗
[Paraneoplastic syndromes: a review].
Modern oncology often obtains good results against earlier neoplasms, whilst it's still in difficulties against the advanced ones. The knowledge of paraneoplastic syndromes is crucial both to cure patients and to do an earlier diagnosis. When we recognize a paraneoplastic syndrome that comes before the clinic beginning of a neoplasm, perhaps we save a life. This review discusses all the main paraneoplastic syndromes, focusing mainly on their clinical aspect and reminding the most commonly associated cancers.
ACTH Syndrome, Ectopic↗
Muscle biopsy in Alzheimer's disease: morphological and biochemical findings.
Recent evidences of a predisposing genetic factor associated with Alzheimer's disease (DAT) suggests that important alterations may be expressed in tissues other than the brain. We present morphological and biochemical studies on muscle obtained from ten patients with Alzheimer's disease and coeval controls. Muscle biopsy examination showed an increased subsarcolemmal mitochondrial oxidative activity in three patients. The biochemical studies showed an increased oxidative enzyme activity only in the DAT group. The CoQ10 level, studied so far in three DAT patients, was greatly reduced (approximately 50%) compared with controls. Possible new peripheral markers in Alzheimer's disease will be discussed.
Aged↗
[Histological and ultrastructural features of a case of subacute sclerosing panencephalitis (author's transl)].
A case of subacute sclerosing panencephalitis is described from a clinical, histopathological and ultrastructural point of view. The most notable morphologic feature is the presence of a great number of nuclear inclusions inside both neurons and oligodendroglial cells. These inclusions are spread to the whole brain and are decreasing in number from the cerebral cortex towards midbrain. The cerebellum is completely spared. The Authors discuss the problems related to the viral origin of the disease, to the diffusion of the virus inside nervous system and to the myelin degeneration in the light of the recent literature.
Adolescent↗
Sialidosis type I: pathological study in an adult.
Histological and ultrastructural findings observed throughout the nervous system and the extranervous organs in a case of sialidosis type I, also known as normosomatic group, are reported. The patient was a 22-year-old male with non-familial progressive myoclonus, macular cherry-red spot, moderate cerebellar syndrome and normal intelligence. Biochemical study showed an alpha-N-acetylneuraminidase deficiency in cultured fibroblasts. A complete and early autopsy was performed. Neuropathological study showed two prominent lesions: the first one was a fine cytoplasmatic vacuolation in several neurons of the cortex, basal ganglia and thalamus and the second one was a diffuse neuronal intracytoplasmic storage of lipofuscin-like pigment (LLP). As for the extranervous organs the main light and electron microscope findings were observed in the hepatocytes and in the Kupffer's cells, which showed an enlarged cytoplasm and lipopigment granules in different amount. Vacuoles containing dense lamellar bodies were found in tubular epithelial cells of the kidney. To our knowledge this is the first complete autoptic study of a case of sialidosis type I.
Adult↗
Five cases of Creutzfeldt-Jakob disease: a clinical-pathological contribution.
Clinico-pathological features are reported in five cases of Creutzfeldt-Jakob disease. In three cases only the brain was examined while in the other two a complete autopsy was performed. In one case a brain biopsy was performed and in other two a piece of cerebral cortex was taken within three hours after death; the brain material was frozen and sent for inoculation in monkeys to Dr. Gajdusek of NINDS-Bethesda, with positive results in two. From the clinical point of view our cases may be classified as follows: two as "classic" type; one as "amaurotic" type; and the last two as "ataxic-amyotrophic" forms according to Alemà and Brion (see text). All five patients were females from 56 to 73 years of age. The duration of the disease ranged from 3 to 7 months. From the histological point of view, in the two "classic" cases the outstanding features was the neuronal loss in all cortical mantle, mainly in the fronto-parietal cortex; furthermore in one there was severe and diffuse spongiform state. In the "amaurotic" case the three types of lesion were mainly localized in the occipital cortex. In the two "ataxic-amyotrophic" forms the neuronal loss was particularly evident in the cerebellar cortex and especially in the granular layer. The Kuru plaques were seen especially in the cerebellum in four of the five cases examined. The aim of our study is to contribute to the epidemiology of this disease.
Aged↗
Videoendoscopic thoracic surgery.
Personal experience of 42 videothoracoscopic operations is reported. From September 91 to May 92 we performed 10 major lung resections (1 pneumonectomy, 8 lobectomies, 1 segmentectomy) 9 wedge lung resections, 4 excisions of pulmonary bullae, 12 pleurectomies with or without apicectomy, 6 excisions of mediastinal masses (3 thymomas, 2 mediastinal cysts, 1 thoracic disembryoma), 1 removal of esophageal leiomyoma. No major complications occurred. Except for one patient submitted to bullectomy with pleurectomy who required a second thoracoscopy due to postoperative bleeding, all patients had excellent p.o. course. We describe technical details employed in different videothoracoscopic operations and discuss personal results and principles of videothoracoscopic approach. Different fields of videoendoscopic chest surgery are examined. Present data seem to advocate videothoracoscopic treatment for many thoracic diseases and also for major lung resections, due to its minimal trauma and little functional impairment. Nevertheless this still remains avant-garde surgery. Further improvement in endoscopic instrumentation is necessary and may lead to future extensions of videothoracoscopic surgical possibilities.
Female↗
[Subacromial impingement syndrome and rotator cuff tear. Ultrasonography of 140 cases].
We investigated the role of rotator cuff impingement in causing tears of supraspinatus and biceps tendons and the comparative reliability of plain radiography and sonography (US). One hundred forty patients with symptoms referrable to the rotator cuff were examined with plain radiography and US of the shoulder. US findings were correlated with MR or double contrast arthrography results in 10 patients and 39 patients were submitted to surgery (acromionplasty). Radiographic studies were performed first and diagnosed rotator cuff impingement (63 patients) caused by abnormal acromial margins or size (23 patients), by acromioclavicular joint protrusion (17 patients), by anterior acromial osteophytosis (10 patients), or by massive periarthritic calcifications (13 patients). In the same 140 patients. US showed normal cuffs in 46 cases, tendonitis in 34, calcific tendonitis in 13, partial-thickness cuff tears in 13, full-thickness cuff tears in 20 and biceps tendon tears in 14 cases. Six of 13 partial tears were studied with MRI, with 4 true positives and 2 false positives. US diagnosis was confirmed by arthrography in 4 complete tears. Twenty-nine of 39 patients undergoing acromionplasty were examined only with plain radiography and US. US accurately diagnosed all 20 massive full-thickness tears, with no false positives nor false negatives (US versus surgery and arthrography). Eleven true positives, 2 false positives and no false negative were observed in 13 partial-thickness cuff tears (US versus surgery and MRI). These findings suggest that rotator cuff US and plain radiography are easily performed, reproducible routine examinations to study the whole rotator cuff and the acromioclavicular joint in the many patients who need an accurate, safe, painless, rapid and cost-effective differential diagnosis, leaving it up to the surgeon to consider MRI or arthrography. Rotator cuff impingement tendonitis, overuse or calcific tendonitis, partial-thickness cuff tears and full-thickness tears ranging from light to severe cause similar shoulder pain and weakness on arm raising. The differential diagnosis must distinguish all these common causes of shoulder dysfunction and cuff problems from other conditions. We conclude that US and plain radiography are accurate routine tests of rotator cuff integrity and rotator cuff impingement.
Adult↗
Osteoid osteoma and eosinophilic granuloma of the lumbar vertebral body.
The authors describe a case of osteoid osteoma in a child and another of eosinophilic granuloma in an adult, localized in a lumbar vertebral body. A study by CT scan images, which is rather typical in the case of osteoid osteoma, could led to chronic osteitis or even to atypical osteoid osteoma in the case of eosinophilic granuloma. Histological examination defined diagnosis, and the two cases healed after surgical excision by anterior approach.
Adult↗