Biomedical subjects

D García-García

Publications and source records attributed to D García-García.

4 recordsLinked to original sources

PubMed2001

Multicentric reference values for some quantities measured with the Elecsys 2010 analyser.

Several clinical laboratories in different regions of Spain have shared the search for reference individuals and the production of reference values for quantities concerning thyrotropin, non-protein bound thyroxine, triiodothyronine, cobalamines and folates, using an Elecsys 2010 analyser. All the logistic work has been done in co-operation with the supplier of the analyser (Roche Diagnostics España, S.L., Barcelona). The reference limits produced in the virtual laboratory are in fact derived from the blend of reference values obtained by each laboratory. The multicentric reference limits were estimated according to the recommendations of the International Federation of Clinical Chemistry. The work done represents a model of co-operation between the in vitro diagnostic industry and clinical laboratories for the production of reference values.

Reference Standards↗

PubMed1998

[Gamma-sarcoglycanopathy: clinico-pathological and genetic study of 11 cases].

INTRODUCTION: Limb Girdle Muscular Dystrophy type 2C (LGMD2C) is an autosomal recessive dystrophy due to the deficit of gamma-sarcoglycan, one of the proteins of the dystrophin-associated proteins complex (DAP). A new mutation in the gamma-sarcoglycan gene, 13q12, has been described recently and is exclusive of the gypsy community. OBJECTIVE: To describe the clinicopathological and the genetic findings of eleven cases from a Spanish gypsy family with LGMD2C and the mutation C283Y. MATERIAL AND METHODS: We describe a large gypsy family with the C283Y mutation and eleven affected patients. We have performed an extensive clinical and pathological study with immunohistochemistry and Western blot analyses in the eleven patients and a genetic study of a total of twenty-seven members of the family. RESULTS: The patients presented a severe muscular dystrophy with a dystrophic pattern in the muscle biopsy, normal immunolabeling for dystrophin, very weak for alpha-, beta- and delta-sarcoglycan and absent for gamma-sarcoglycan. These eleven patients were found to be homozygous for the mutation and twelve other members of the family, heterozygous. CONCLUSIONS: The clinical picture and the evolution of the disease herein described is similar to that observed in DMD. Two fundamental differences were found: the autosomal recessive mode of inheritance, and the normal immunohistochemistry and immunoblot for dystrophin in the skeletal muscle.

Adolescent↗

PubMed1998

[Postural hypotension with non-neurogenic triggers in the elderly].

INTRODUCTION: Orthostatic hypotension (OH) symptoms are the most frequent reason for patients to undergo an autonomic examination. The incidence of these symptoms is greater in two groups: young people with neurally mediated syncope, and adults older than 60 years, all who have normal results in the EKG and EEG test. The baroreflex afferents induce a continuous blood pressure adjustment through the heart rate variation. There are functional changes with aging which reduce this baroreflex sensitivity and therefore the accommodation to the haemodynamic requirements is frequently impaired. A number of no neurogenic triggers can be implicated in the development of OH symptoms such as electrolytic disorders, arrhythmia with low stroke volume and drugs side effects. MATERIAL AND METHODS: To study the influence of these factors in the elderly suffering from OH, we reviewed patients older than 60 years sent to our laboratory during the last three years. In 40 out of 207 cases we found the existence of some of the above mentioned factors as possible trigger of the symptoms, since no autonomic abnormality was present. After arrhythmia correction, in two cases, and the pharmacologic agent suppression, in four more patients, symptoms disappeared and no OH was found in a second tilting test. OH is a frequent problem in the elderly and requires a careful review of the numerous causes that could contribute to develop the symptoms. CONCLUSIONS: To take the proper therapeutic decision, a long term monitoring seems to be necessary for the main parameters: blood pressure and EKG.

Aged↗

PubMed1998

[Dystrophinopathies, congenital muscular dystrophy, limb-girdle dystrophies: updated classification].

OBJECTIVES: To review the up-dated classification of limb girdle muscular dystrophies (LGMDs) in relation to the defective protein and the genetic abnormality. To explain how these proteins are related to dystrophin and to the proteins of the extracellular matrix. To show that an accurate diagnosis is necessary and that it can be adequately made in neuromuscular pathology laboratories. DEVELOPMENT: We present a study of the different types of LGMDs, dystrophinopathies and congenital muscular dystrophy. We emphasize the recent events which concluded in the identification of these disorders, the genetic alteration, the defective proteins and, briefly, the clinical features. CONCLUSIONS: The recent identification of numerous skeletal muscle proteins and of the codifying genes made possible a new classification of a large group of muscular dystrophies. The possibility to study these proteins on the muscle biopsy with immunohistochemistry and Western blot techniques indicates the need of an accurate diagnosis in specialized neuromuscular laboratories. Since there is a great number of genes discovered and of mutations within the same gene, and the clinical picture of different diseases can be similar, a previous study of the protein is advisable as a guide for a further genetic study.

Calpain↗