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Biomedical subjects

E Bertini

Publications and source records attributed to E Bertini.

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

Epilepsia partialis continua and neuronal migration anomalies.

Neuronal migration anomalies commonly cause seizures that are partial in type and generally refractory to medical treatment. Epilepsia partialis continua (EPC), an unusual form of epilepsy commonly related to acute damage of the cerebral cortex or to a chronic lesion, has never been described in a patient with neuronal migration anomalies. In 50 children with epilepsy due to neuronal migration anomalies, we observed two cases of EPC. These two children had unilateral neuronal migration abnormalities with partial seizures other than EPC and contralateral hemiparesis. Epilepsia partialis continua appeared two to three years after the onset of partial attacks and was accompanied by a worsening of the children's previous hemiparesis. Although a rare seizure manifestation in children with neuronal migration anomalies, when it does appear, EPC can aggravate the clinical neurological condition and should always be investigated for in these cases. Because its clinical appearance is often subtle, as in these two children, EPC may easily remain undiagnosed.

Brain Diseases↗
PubMed1992

Bilateral striatal necrosis, dystonia and optic atrophy in two siblings.

Two siblings developed a neurological disorder in the first decade characterised by generalised dystonia, hypokinesia, and subacute visual loss. CT and serial MRI examinations showed bilateral lesions of the striatum, mainly in the putamen. The classification of these patients is discussed in relation to infantile bilateral striatal necrosis (IBSN), Leigh's disease, and Leber's optic neuropathy. The literature shows a clinical and aetiopathogenetic overlap between these syndromes. In our cases parental consanguinity and the involvement of a single generation suggest a new clinical condition with autosomal recessive transmission.

Adult↗
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

Experience on therapy of adrenoleukodystrophy and adrenomyeloneuropathy.

We report the biochemical and clinical results obtained during a dietary erucic acid (C22:1) therapy in 20 patients affected by X-linked adrenoleukodystrophy (ALD). Six patients were very severely affected, 9 had milder neurological symptoms and 5 were presymptomatic. Mean basal levels of plasma C26:0 were 1.41 +/- 0.48 micrograms/ml in ALD patients (control values: 0.33 +/- 0.12). In all patients C26:0 decreased to virtually normal values. In spite of good biochemical response and absence of consistent side effects of therapy, no encouraging data were observed during the clinical follow-up. The presymptomatic subjects were still free of symptoms after more than 1 year of therapy. The symptomatic patients, however worsened or did not show any improvement.

Adolescent↗
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↗
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

Impaired skin fibroblast carnitine uptake in primary systemic carnitine deficiency manifested by childhood carnitine-responsive cardiomyopathy.

Evidence is emerging that primary systemic carnitine deficiency, a potentially lethal but eminently treatable inborn error of fatty acid oxidation, involves a cellular defect in the uptake of carnitine. We present four unrelated children with primary carnitine-responsive cardiomyopathy, weakness (with or without hypoketotic hypoglycemic encephalopathy), low serum and/or tissue carnitine concentrations, and severe renal carnitine leak. Dicarboxylic acids were absent in the urine of three children who were tested, and all four had a rapid and dramatic improvement in cardiac function, strength, and somatic growth after carnitine therapy. We studied carnitine uptake in cultured skin fibroblasts from all four children and seven of the eight healthy nonconsanguinous parents. [3H]L-carnitine uptake was evaluated in vitro under linear time kinetics. Substrate concentrations were varied from 0.1 to 1000 microM. Physiologic uptake was determined at carnitine concentrations between 0.1 and 50 microM. Nonspecific uptake was determined at a concentration of 10 mM. The four patients had negligible uptake throughout the physiologic range, implying a marked deficiency in the specific high-affinity, low-concentration, carrier-mediated uptake mechanism. At a concentration of 5 mumol/L, the mean velocity of uptake in the four patients was 2% of control values. Their parents showed intermediate maximal rates of carnitine uptake ranging from 13 to 44% of control Vmax values, but normal Km values, suggesting that the heterozygotes had a reduced number of normal functioning carnitine transporters. The observed reduction in Vmax values for the parents supports an autosomal recessive inheritance pattern and may be a more sensitive indicator of heterozygosity than serum carnitine concentrations.(ABSTRACT TRUNCATED AT 250 WORDS)

Biological Transport, Active↗
PubMed1989

An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region.

Deletions of muscle mitochondrial DNA (mtDNA) have recently been found in patients with mitochondrial myopathy. However, as most of the described cases were sporadic, and individual deletions involved different portions of mtDNA, the mechanism(s) producing the molecular lesions, as well as their mode of transmission, remain unclear. By studying families with mtDNA heteroplasmy, valuable information can be obtained about the role of inheritable factors in the pathogenesis of these disorders. We have studied four members of a family with autosomal dominant mitochondrial myopathy. Multiple deletions, involving the same portion of muscle mtDNA, were identified in all patients. Sequence analysis of the mutant mtDNAs, performed after DNA amplification by the polymerase-chain reaction showed that all the deletions start within a 12-nucleotide stretch at the 5' end of the D-loop region, a site of active communication between the nucleus and the mtDNA. The data indicate that a mutation of a nuclear-coded protein can destroy the integrity of the mitochondrial genome in a specific, heritable way.

Base Sequence↗
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↗
PubMed1989

Reduced serum inhibition of platelet-activating factor activity in preeclampsia.

We determined in normal nonpregnant (group 1) women, normal pregnant (group 2) women, and patients with preeclampsia (group 3) the serum inhibition of platelet-activating factor activity, the presence of detectable amounts of platelet-activating factor in the blood, and platelet responsiveness in vitro to platelet-activating factor, and to other agonists (adenosine diphosphate, collagen, and ristocetin), and prostacyclin (prostaglandin I2). In patients with preeclampsia (group 3) the serum inhibition of platelet-activating factor activity was significantly lower than that in groups 1 and 2. However, no detectable amounts of platelet-activating factor were observed. The mean values of platelet aggregation induced by platelet-activating factor, adenosine diphosphate, collagen and ristocetin, and the prostaglandin I2-inhibitory concentration of 50% which is inversely correlated with platelet sensitivity to prostaglandin I2, were not significantly different between groups 2 and 3. It is suggested that in preeclampsia the defect in serum inhibitory potential of platelet-activating factor--induced platelet aggregation may contribute to the disturbance in the homeostatic balance between proaggregant and antiaggregant substances.

Adenosine Diphosphate↗
PubMed1989

Analysis of mutagenic activity in human urine after concentration on different resins and high-performance liquid chromatography.

Smokers' urine was tested for mutagenic activity on Salmonella typhimurium strain TA1538 with metabolic activation after adsorption on different resins and desorption with organic solvents. The amounts of XAD-2 were 1.25 and 5 g/100 ml urine, the amounts of alumina, cyanopropyl and C18 were all 5 g/100 ml and extrelut 80 g/100 ml. Adsorbed organic chemicals were eluted with acetone from XAD-2, with dichloromethane from extrelut and with a series of solvents from the other resins (hexane, toluene, dichloromethane and methanol). All columns gave similar results, with the exception of extrelut, which had poor recovery of mutagenic activity. Higher resin/urine ratios and sequences of columns gave better results. The organic eluates from XAD-2 columns loaded with the urine of patients treated with cyclophosphamide and melphalan were mutagenic on strain TA1535 with S9, and some mutagenic activity was also detectable in the aqueous eluate. Cisplatin was adsorbed on XAD-2, C18 and extrelut, but was eluted only from extrelut using dimethylformamide as a solvent. Smokers' urine was separated into several fractions with high-performance liquid chromatography, using C-18 columns with a series of solutions of 2.5 mM phosphoric acid and acetone or with a gradient of methanol. Several fractions containing dissolved organic compounds and no histidine were mutagenic with metabolic activation, but the overall mutagenic activity was still lower than the one detected with one-step chromatography on XAD-2. Using XAD-2 resins with a high ratio of resin to urine still seems to be the method of choice for studying urinary mutagenicity.

Antineoplastic Agents↗
PubMed1988

Agenesis of the corpus callosum, combined immunodeficiency, bilateral cataract, and hypopigmentation in two brothers.

We describe 2 brothers with a malformation syndrome consisting of agenesis of the corpus callosum, cutaneous hypopigmentation, bilateral cataract, cleft lip and palate, and combined immunodeficiency. The clinical history of both patients was characterized by severe psychomotor retardation, seizures, recurrent severe respiratory infections, and chronic mucocutaneous candidiasis. The children died of bronchopneumonia at age 2 and 3 years, respectively. Immunological investigations showed, in one sib studied, skin anergy to recall antigens, profound depletion of T4+ lymphocytes, and serum IgG2 deficiency. Necropsy showed agenesis of the corpus callosum, hypoplasia of the cerebellar vermis, and profound hypoplasia of the thymus and of the peripheral lymphoid tissue. The distinctive features of these sibs appear to define a previously undescribed hereditary MCA/MR syndrome. The clinical and pathological findings seem to indicate, as a pathogenetic mechanism, a defect involving the embryonic organization of the central nervous system and of the immune system.

Abnormalities, Multiple↗