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Biomedical subjects

A Cabello

Publications and source records attributed to A Cabello.

At least 73 records · Page 4Linked to original sources
PubMed1996

[Simple juxtathyroid cyst. Analysis of the possible origin of the lesion].

We report a 34 years old female who presented with a simple juxtathyroid cyst. Its content was translucent with a mPTH concentration 30 higher than in blood. This finding lead to the suspicion of a parathyroid cyst; however there were no laboratory evidence of hyperparathyroidism. Two years later and after repeated needle drainages, a surgical cystectomy was made. The immunohistochemical study of the samples was intensely positive for synaptophysin, a parathyroid tissue marker. Surprisingly, thyroglobulin was also found in some cyst wall cells.

Adult↗
PubMed1995

Mitochondrial DNA deletion in a patient with mitochondrial myopathy, lactic acidosis, and stroke-like episodes (MELAS) and Fanconi's syndrome.

Large-scale mitochondrial DNA deletion was found in a 5-year-old girl with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) and Fanconi's syndrome. Muscle biopsy disclosed ragged-red fibers and cytochrome c oxidase negative fibers. Respiratory chain studies were normal. Southern blot analysis demonstrated a 10.5-Kb heteroplasmic deletion in both muscle and blood. Deleted genomes represented 40% of total mitochondrial DNA in muscle and 63% in blood. There was no evidence of point mutations characteristic of MELAS. We suggest that not only patients with progressive external ophthalmoplegia syndromes, but also those with defined syndromes [e.g., MELAS or myoclonic epilepsy and ragged-red fibers (MERRF)] without characteristic point mutations, be screened for mitochondrial DNA deletions.

Biopsy↗
PubMed1995

Clinical heterogeneity in two pedigrees with the 3243 bp tRNA(Leu(UUR)) mutation of mitochondrial DNA.

We studied two pedigrees with a mutation at the nucleotide 3243 of mitochondrial DNA (mtDNA). The proband from the first pedigree had clinically defined MELAS plus maternally transmitted insulin-dependent diabetes mellitus (IDDM). The propositus of the other pedigree had exercise intolerance, lactic acidosis and ragged-red fibers (RRF). In the first pedigree, both the mother and the sister's proband harbored the point mutation in their muscle. The mother had 40% of mutant mitochondrial genomes and the sister 70%. In the second pedigree, the mutation was present in both muscle and blood from the proband as well as in blood from all other members studied. Proportion of mutant mtDNA was 90% in muscle and ranged from 40% to 90% in blood.

Adult↗
PubMed1995

Respiratory chain enzyme defects in patients with idiopathic inflammatory myopathy.

OBJECTIVE: To analyse muscle respiratory chain enzymes in idiopathic inflammatory myopathy. METHODS: Four consecutive female patients seen at our hospital with idiopathic inflammatory myopathy were studied. Muscle histochemical staining included NADH tetrazolium reductase and succinate dehydrogenase tests. Activity of rotenone sensitive NADH cytochrome c reductase (complex I and III) succinate dehydrogenase (complex II), succinate cytochrome c reductase (complex II and III), cytochrome c oxidase (complex IV), and citrate synthase (a mitochondrial matrix enzyme), was measured spectrophotometrically in muscle homogenates. Free carnitine, and short and long chain acylcarnitine esters were determined in muscle homogenates by a radiochemical procedure. RESULTS: Three patients had mitochondrial proliferation in nonregenerating muscle fibres; these patients had defects of respiratory chain enzyme complexes. Carnitine concentrations, measured in two of the four patients, revealed carnitine deficiency in one. CONCLUSION: Our results suggest that mitochondrial dysfunction may be present in patients with inflammatory myositis.

Adolescent↗
PubMed1994

Herpes simplex brainstem encephalitis with a relapsing course.

We report a patient with a relapsing form of acute brainstem encephalitis. Pathological examination demonstrated necrotizing encephalitis in the cerebral cortex and, more pronounced, throughout the diencephalon, as well as in the pes pontis. Neurons and glial cells in the cerebral cortex and brainstem contained herpesvirus antigens. The clinical interrelationship of brainstem encephalitis, Miller Fisher syndrome and Landry-Guillain-Barré syndrome is discussed.

Adolescent↗
PubMed1994

Autosomal recessive hereditary sensory neuropathy with spastic paraplegia.

Five patients are described with a progressive sensory neuropathy in association with a spastic paraplegia and a mutilating lower limb acropathy. Disease onset was in childhood. Two pairs of siblings were both the offspring of normal consanguinous parents, suggesting autosomal recessive inheritance. The fifth case was sporadic; her parents were normal and non-consanguinous. Nerve biopsy in three patients showed an axonopathy with a loss of myelinated nerve fibres of all diameters and also of unmyelinated axons. In combination with the previous report by Cavanagh et al. (Brain 1979; 102: 79-94), the present patients establish the existence of an autosomal recessive form of hereditary sensory neuropathy with spastic paraplegia. There have been previous descriptions of a dominantly inherited form.

Adolescent↗
PubMed1994

Treatment of invasive growth hormone pituitary adenomas with long-acting somatostatin analog SMS 201-995 before transsphenoidal surgery.

The purpose of this study was to determine whether the long-acting somatostatin analog SMS 201-995 (octreotide) shrinks growth hormone (GH)-secreting adenomas and improves the results of subsequent transsphenoidal surgery. Ten previously untreated active acromegalic patients (nine women and one man) with invasive tumors were treated with SMS 201-995 (100 micrograms subcutaneously every 8 hours) for 6 weeks prior to transsphenoidal surgery. The clinical activity, mean GH secretion, insulin-like growth factor (IGF)-I concentration, and tumor volume were measured under basal conditions and on Days 14, 28, and 42 of treatment. The SMS 201-995 improved the symptoms of acromegaly in all patients. Mean levels of both GH and IGF-I (+/- standard deviation) were significantly decreased by Day 14 (from 92.9 +/- 30.5 to 44.9 +/- 20.3 micrograms/liter and from 10.6 +/- 7.4 to 5.9 +/- 2.6 U/ml, respectively), after which there were only slight further decreases. Six (60%) of the 10 patients experienced tumor shrinkage ranging from 9% to 78% (mean 30%). When it occurred, tumor shrinkage was significant by Day 14 (7.9 +/- 6.3 to 6.5 +/- 5.1 cu cm) and no further shrinkage was achieved by longer administration. Transsphenoidal surgery reduced postoperative GH levels to less than 2 micrograms/liter and IGF-I to less than 1.5 U/ml in six patients (60%). This percentage of cure is higher than expected from the literature and the authors' previous experience. However, an investigation of the influence of this drug on several parameters, such as reduction of tumor size or GH and IGF-I concentrations, has failed to prove any relationship. Only pretreatment size of the tumor was of predictive value with respect to the surgical outcome.

Acromegaly↗
PubMed1994

[Neuro-acanthocytosis with associated myopathy. A case report].

Abnormalities of striated muscle histology in patients with neuroacanthocytosis have been previously attributed to chronic denervation. This hypothesis is based in the presence of axonal peripheral neuropathy. In this 37-year-old patient clinical, biochemical and histologic data revealed a non specific primary myopathy. Other important findings were decreased levels of 5-hydroxy-indoleacetic acid (5-HILA) and homovanillic acid (HVA) in the CSF, cerebellar and basal ganglia atrophy seen in MRI and infertility of probable gonadal origin.

Acanthocytes↗
PubMed1994

[Evolutive epidemiologic profile of myelodysplastic syndromes (1959-1993). Comparative study with acute myeloid leukemia and aplastic pancytopenias].

PURPOSE: To compare the maximum epidemiologic data attained from myelodysplastic syndromes (MDS) with those of two main panmyelopathies, namely acute myeloblastic leukaemia (AML) and aplastic pancytopenia (AP). PATIENTS AND METHODS: A retrospective analysis was carried out on 21,135 patients included in the Bone Marrow Study Registry of the Jiménez Díaz Foundation along 35 years (1959-1993). The data were grouped into seven five-year periods. Of these, in the first three the study was performed on bone-marrow aspirates; after 1976 the histopathological study of bone-marrow biopsies was introduced, and since 1979 the karyotype has been regularly examined. The MDS were classified in accordance with the FAB system. With these premises borne in mind, the following aspects were considered: diagnostic interpretation of MDS along the years; diagnostic incidence of MDS, AML and AP in each of the five-year periods; relative frequency of those diagnosis with respect to the total number of cases; evolutive profile of sex and age at diagnosis; quantitative significance of secondary MDS-AL and toxic AP along the years; MDS subtypes and their epidemiologic characteristics. RESULTS: A total of 510 MDS, 610 AML and 223 AP cases were identified. With respect to the sex of the MDS patients, some changes have been seen along the years, from an M/F ratio of 1.9 to 1.0; and the mean age at diagnosis raised from 53.3 years (with only 1.7% of the cases over 65 years of age) to 71.4 years (with 76.9% of the cases over 65 years of age), all this within the 1959-1989 period. The incidence of AML and AP has remained stable for the last 20 years; on the contrary, MDS have been increasing continuously along the 35 years of the study, which poses for a higher number of new cases in every period (from 35 to 119) and also for a higher relative frequency in the registry (from 1.37% to 4.40%) within the period 1959-1989. Valuable toxic history was progressively increasing in secondary MDS-AML and progressively decreasing in AP. With respect to the FAB subtypes of MDS, and taking into account the last of the five-year periods, the most frequently diagnosed were RA and RSA followed by RAEB, CMML and RAEB-T. CONCLUSIONS: The increment of the incidence of MDS cases correlates significantly with the increment of the patients aged over 65 years. This incidence appears to be scarcely influenced by previous mutagenic agents (radiotherapy, chemotherapy) and might be due to a better understanding of MDS.

Acute Disease↗
PubMed1994

[Idiopathic thrombocytopenic purpura in 5 members of a family].

Five cases of idiopathic thrombocytopenic purpura (ITP) appearing on five members of two generations of a family, with autosomal dominant pattern, are presented. The clinico-biologic behaviour of 2 patients (studied and treated by the authors) plus the available data from the 3 others (diagnosed and treated at other hospitals) allowed us to discard any possibility of hereditary non-immunologic thrombocytopenia. The predisposition of ITP patients and their relatives to present clinico-biological features of autoimmune diseases is commented as a possible explanation for the rare forms of familial ITP.

Adolescent↗
PubMed1994

[Axilla skin biopsy in the diagnosis of Lafora's disease].

Skin biopsy is the method of choice for the diagnosis of Lafora's disease. The presence of PAS (+) inclusions characteristic of Lafora's disease has been thought to be more evident in aprocrine glands of the axillary skin than in the duct cells of the eccrine glands. We describe 4 patients with Lafora's disease diagnosed by axilla skin biopsy, confirming the usefulness of this procedure.

Adolescent↗