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Biomedical subjects

T Romero

Publications and source records attributed to T Romero.

At least 19 recordsLinked to original sources

Inheritable variable sizes of DNA stretches in the human MHC: conserved extended haplotypes and their fragments or blocks.

The difference in sizes of conserved stretches of DNA sequence within the major histocompatibility complex (MHC) in human individuals constitutes an underappreciated genetic diversity that has many practical implications. We developed a model to describe the variable sizes of stretches of conserved DNA in the MHC using the known frequencies of four different kinds of small (< 0.2 Mb) blocks of relatively conserved DNA sequence: HLA-Cw/B; TNF; complotype; and HLA-DR/DQ. Each of these small blocks is composed of two or more alleles of closely linked loci inherited as one genetic unit. We updated the concept of the conserved extended haplotype (CEH) using HLA allele identification and TNF microsatellites to show that specific combinations of the four blocks form single genetic units (>/= 1.5 Mb) with a total haplotype frequency in the Caucasian population of 0.30. Some CEHs extend to the HLA-A and -DPB1 loci forming fixed genetic units of up to at least 3.2 Mb of DNA. Finally, intermediate fragments of CEHs also exist, which are, nevertheless, larger than any of the four small blocks. This complexity of genetic fixity at various levels should be taken into account in studies of genetic disease association, immune response control, and human diversity. This knowledge could also be used for matching CEHs and their fragments for patients undergoing allotransplantation.

Alleles↗

Linkage disequilibrium of HLA-A11 and A1 with one of the polymorphisms of the gamma-aminobutyric acid receptor type B.

The gamma-aminobutyric acid receptor type B 1 (GABA(B) R1) is located approximately at 200 kb telomeric to HLA-A on chromosome 6. It has 11 single-nucleotide polymorphisms (SNPs). We studied the most common of its SNPs (T1974C) in a panel of 118 normal Caucasians from New England and 161 epileptic patients of Caucasian ancestry residing in USA. The frequency of the polymorphism did not differ between patients and controls. Here, we report that the allele C of this SNP in the GABA(B) R1 gene is in linkage disequilibrium with HLA-A11 (P<0.00001) and to a lesser extent with HLA-A1 (P<0.01).

Alleles↗

[Cardiac rehabilitation as a first step in the secondary prevention of coronary heart disease].

Despite that coronary heart disease is still the major cause of death in the industrialized countries and in some with emerging economies, a steady decline in the mortality for coronary heart disease has been observed in the last 30 years. This has been attributed predominantly to a reduction in smoking and in the cholesterol blood levels, two of the major risks factors for coronary heart disease. Cardiac rehabilitation programs represent today one of the most cost effective interventions to reduce the morbidity and mortality after a coronary event. They offer a unique opportunity to guide a patient immediately after an acute coronary episode through the inpatient care to the outpatient environment. In these programs a strong emphasis is made in the educational aspects of secondary prevention of coronary heart disease as well as in motivating patients to achieve life long lasting behavioral changes impacting on the major risk factors (smoking cessation, regular exercise, weight control, etc). The current subutilization of the Cardiac Rehabilitation Programs appears to be related to a variety of factors that include, among others, financial restraints and cultural values and perceptions with reference to health care.

Coronary Disease↗

[Cardiac tamponade as first clinical manifestation of small cell carcinoma].

A 69 year old man was diagnosed of cardiac tamponade. At surgery a large hemopericardias was evacuated, cardiac and pericardial metastasis of an oat cell carcinoma was demonstrated. The patient died 4 weeks later. A review of the literature is done about patients with cardiac tamponade as the first manifestation of a neoplastic process.

Carcinoma, Small Cell↗

Colonisation with Aspergillus of an intralobar pulmonary sequestration.

Pulmonary sequestration is a term used to describe an area of embryonic lung tissue supplied by an anomalous systemic artery. Two forms are recognised-extralobar and intralobar-with different clinical presentations. A patient is reported with intralobar pulmonary sequestration in the left lung and colonisation with Aspergillus which was successfully treated by lower lobectomy.

Adult↗

[Cardiac rhabdomyoma and tuberous sclerosis. Survival after the surgical resection of the cardiac tumor].

A 3-month-old boy with tuberous sclerosis was diagnosed of biventricular heart tumor by means of 2D-echocardiogram. Three masses of tumor were excised from the right ventricle with the aid of cardiopulmonary bypass. Pathologic examination disclosed a cardiac rhabdomyoma. The boy is symptoms-free after 5 years of the operation. An echocardiogram taken at this time showed no-evidence of heart tumor. Pathology, diagnostic methods and surgical indications are commented. A review of selected surgically resected cases is also presented.

Biopsy↗