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Biomedical subjects

L Palmucci

Publications and source records attributed to L Palmucci.

At least 73 records · Page 4Linked to original sources
PubMed1977

Unusual extension of an epidermoid cyst.

Report on an epidermoid which extended from the frontal via the temporal region to the brain stem and the left cerebellar hemisphere and had consumed the brain substance. A cerebellar pressure cone was found on the right-hand side. The case history covered a period of ten years (psychic symptoms, pressure signs, nystagmus, ptosis, hypacusis on the left side and central facial paresis on the right). The angiogram showed an extensive region with an abundance of vessels, especially in the temporal and infratentorial regions. Calibre reduction of the external carotid. No operation because of extremely bad condition. The postmortem findings confirmed the mainly basally developed epidermoidoma.

Adult↗
PubMed1977

[Anatomo clinical aspects of a case of ischaemic necrosis of the spinal cord in a patient with a dissecting aneurysm of the aorta (author's transl)].

Neurological complications of dissecting aneurysm of the aorta are not frequently described in the literature. A case of infarction of the spinal cord secondary to aortic aneurysm is presented. The ischemic zone extended from D5-D6 to L2-L3, showing the typical double-funnel-like configuration. Such localization is explained by the blood circulation in the spinal cord. The rupture of a dissecting aortic aneurysm in the toracic and abdominal tract, by occluding the segmental branches to the spinal cord, causes a decrease in blood flow which is responsible for the neurological manifestations. In the present case ischemia is mainly due to the involvement of the artery of Adamkiewicz, while the relative sparing found at the inferior lumbar level is justified by the existence of vessels which take origin below the aneurysm and are tributary to the cauda equina. The histological findings are in agreement with previous observations of a selective necrosis of the gray matter.

Aortic Dissection↗
PubMed1976

Granulomatous mycoses of the central nervous system.

A clinical and pathological description of five cases of granulomatous mycoses of the C.N.S. is reported. Four had an intracranial and one a spinal localization. In all patients the clinical pattern was of tumoral type, while the disease evolution was favourable only in one case. From a histipatholic point of view the preliminary diagnosis was of granulomatous process. The fungi organisms were identified only by means of combined stain methods. Beside the pathogenetic problems the Authors outline some histological methods useful for diagnostic purposes when a culture procedure for fungi is lacking.

Actinomycetaceae↗
PubMed1975

Soradic ulcerative mutilating acropathy with imbalance of free amino acids in the cerebrospinal fluid.

A case of sporadic ulcerative mutilating acropathy is described. Muscle biopsy showed signs of neurogenic atrophy. Motor nerve conduction velocity was slightly reduced. The muscles of the foot were completely unresponsive to electric stimulation of both femoral nerves. The content of free amino acids in serum and cerebrospinal fluid was determined by ion exchange chromatography, and compared with a control group. While in serum no significant changes were found, in CSF most amino acids showed great alterations, mainly consisting in an increase. It is suggested that the primary disturbance may be located in the spinal nerve roots.

Adult↗
PubMedDate not supplied

Acute muscle necrosis after chronic overdosage of phenformin and fenfluramine.

A case of acute muscle necrosis with probable myoglobinuria is presented. The patient had been taking excessive doses of phenformin and fenfluramine, and a toxic etiology is suggested. Muscle necrosis is tentatively attributed either to the combined effect of these drugs on some underlying biochemical abnormality of muscle or to a defect of oxygen utilization secondary to myoglobin alterations.

Acute Disease↗
PubMedDate not supplied

Laminin and fibronectin distribution in normal and pathological human muscle.

The availability of antisera against collagen and non-collagen proteins of the extracellular matrix has opened new possibilities of studying fibrous infiltration in muscular diseases. We have examined muscle biopsies from 5 controls and 27 patients with various neuromuscular diseases by immunofluorescence and peroxidase-anti-peroxidase. We investigated the distribution of fibronectin and of laminin, a protein present in basement membranes. In normal muscle both were present around blood vessels, axons, muscle spindles and muscle fibres. In addition fibronectin filled the endomysial and perimysial space, the endoneurium and the space between the intrafusal fibres. In pathological muscle laminin distribution was similar to that in normal muscle, but some atrophic fibres appeared to have a thickened contour and irregular profiles were occasionally observed in the absence of histologically demonstrable muscle fibres. Fibronectin was increased in all the conditions with thickened endomysium and perimysium, without displaying any disease-specific character. Findings are compared with the few published observations on fibronectin and collagen types.

Connective Tissue↗
PubMedDate not supplied

Quantitative analysis of quadriceps muscle biopsy. Results in 30 healthy females.

Open biopsy was performed in right quadriceps muscle (vastus lateralis) in 30 healthy female volunteers between 20 and 50 years of age. Histometric analysis was carried out on ATPase stained sections preincubated at pH 4.5. Type 1, 2a, 2b, and 2 fibres were quantified taking into account the following parameters: percentage of fibre types, mean diameter, atrophy and hypertrophy factor, variability coefficient of mean diameter and mean diameter ratio of type 1: type 2 fibres. Results showed that there is a large variation in fibre type percentage, mean diameter and hypertrophy factor, and consequently ranges of normal values are wider than those previously reported. Atrophy factor and variability coefficient are the least variable parameters. The importance of normal controls is stressed to avoid false positives in histometric evaluation of muscle biopsy with minimal changes.

Adult↗
PubMedDate not supplied

Crystalline aggregates of protein-glycogen complexes (alias 'virus-like particles') in skeletal muscle: report of a case and review of the literature.

Crystalline arrays of so-called 'virus-like particles' were found in post-mortem samples of skeletal muscle obtained from an 11-month-old female infant. In a large number of skeletal muscle fibres crystalline inclusions were abundant, variously configurated and positively stained with a cytochemical method for polysaccharides. A battery of enzymatic tests, including some with diastase and alpha-amylase, was, however, entirely noncontributory. A muscle biopsy studied 5 months before death had disclosed no crystalline inclusions of any kind. The literature concerning similar cases of 'virus-like particles', crystalline glycogen aggregates or protein-glycogen complexes in muscle is reviewed. Possible reasons underlying the aggregation of protein-glycogen complexes into crystalline arrays are discussed.

Female↗
PubMedDate not supplied

Late onset and very mild course of Xp21 Becker type muscular dystrophy.

We report a case of late onset of Becker's muscular dystrophy (BMD), diagnosed at the age of 60, which showed a very mild clinical course. Remarkably, the immunohistochemical pattern did not show significant alterations, while Western blotting disclosed low molecular weight dystrophin. DNA analysis showed a deletion of the exons 45-53 of the Xp21 gene, which is fairly typical of Becker's muscular dystrophy but not predictable of clinical course. The possibility of Xp21 muscular dystrophy must be considered in all myopathies of uncertain cause, also in elderly patients.

Blotting, Western↗
PubMedDate not supplied

MERRF/MELAS overlap syndrome in a family with A3243G mtDNA mutation.

Four members of a family were found to carry the A3243G mtDNA mutation. Clinical features varied from typical MELAS to myoclonic epilepsy to simple deafness without neurological signs. Several other members of the family had symptoms consistent with a mitochondrial disease. Muscle biopsy in 3 of the 4 patients showed the most prominent mitochondrial alterations with partial deficiency of cytochrome c oxidase in the case with the mildest phenotype. Mitochondrial DNA analysis detected a variable percentage of A3243G mutation, roughly correlating with the phenotype. The interesting feature of the family lies in the great intrafamilial variability of the severity of clinical expression, encompassing MELAS and MERRF features, associated with the A3243G mtDNA mutation. A search for the most common mtDNA mutations is recommended in all patients featuring incomplete MELAS or MERRF syndromes and in all familial cases presenting minimal clinical signs.

Adult↗
PubMedDate not supplied

[Roussy-Levy's syndrome: clinical aspects (author's transl)].

A case of non familial Roussy-Lévy syndrome is presented: optic atrophy, gait ataxia, bilateral hypotrophy of thenar and hypothenar muscles, weak deep tendon reflexes of the upper limbs, weak knee jerks, absent ankle jerks, bilateral Babinski, anapallaesthesia from the bisiliac spine distally, bilateral pes cavus. The literature on Roussy-Lévy syndrome is discussed and whether this syndrome should be considered as a precise entity among heredo-degenerative diseases. The overlapping of differing clinical features may suggest an intermediate form between Friedreich's and Charcot-Marie-Tooth's diseases.

Adult↗
PubMedDate not supplied

Spongiform encephalopathy in addicts inhaling pre-heated heroin.

Three subjects, inhaling pre-heated heroin, developed a severe neurological illness. The neuropathological examination at autopsy on two of them demonstrated that it was due to a spongiform encephalopathy. By light and electron microscopy a severe edema with spongiosa and myelin damage were evident. U-fibers, brainstem, spinal cord and peripheral nerves were spared. The origin of the encephalopathy was not identified. The encephalopathy of our cases is similar to that described by Wolters et al. in 1982 in Holland.

Adult↗