Biomedical subjects
Publications and source records attributed to M Moreno García.
The incidence of chromosome anomalies in newborn infants is 0.7-0.8 %. The phenotypic manifestations of chromosomal abnormalities are highly diverse. These anomalies may be present in phenotypically normal individuals in whom they can increase the risk of recurrent miscarriage and birth defects and/or mental retardation. It is important to determine this risk to provide patients with appropriate genetic counseling.
Explore the source record for details and available documents.
Congenital heart malformations are the most common of all birth defects, affecting 0.5-1% of all live births. Some of these malformations are due to genetic anomalies. Patterns of autosomal dominant, autosomal recessive and X-linked inheritance have been described. Mitochondrial inheritance and chromosomal anomalies can also be responsible for congenital heart malformations. Several genes for congenital heart defects have been identified. We review current knowledge on the genetic etiology of congenital heart disease.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
OBJECTIVE: WAGR syndrome is a rare syndrome which involves microdeletions of the short arm of chromosome 11 at band 11p13. The clinical features are Wilms' tumor, amiridia, genitourinary abnormalities and mental retardation. There are very few reported cases. We report a new case of WAGR syndrome and review the literature. PATIENTS AND METHODS: Chromosome preparations were obtained from lymphocyte cultures of peripheral blood. For chromosome analysis GTG banding and fluorescent "in situ" hybridization (FISH) were used. RESULTS: Chromosomal analysis revealed deletion of p12-p13 bands. Our patient had bilateral aniridia, Wilms' tumor and cryptorquidia. CONCLUSIONS: The karyotype was 46, XY, del (11)(p12-p13). The p13 band deletion was the cause of the WAGR syndrome.
Explore the source record for details and available documents.
UNLABELLED: The infection by human immunodeficiency virus (HIV) are commonly associated with haematologic abnormalities (anemia, leucopenia and thrombocytopenia). We review the neutropenia. In patients infected with HIV neutropenia is seen in the 8-50% of them, and also have abnormalities in the neutrophil function. ETIOLOGY: Direct injury of HIV on de bone marrow, anti-neutrophil antibodies, drugs, opportunistic infections of bone marrow, vitamin B12 and folate deficiency, radiations therapy, and hemophagocytic syndrome. CONSEQUENCES: These patients have a increased risk of infections, since the neutrophils play an important role in the defense against bacterial and certain fungal infections. TREATMENT: It must to treat the causes. When it is not possible, Colony-Stimulating Factor can be use to stimulate the bone marrow granulopoiesis.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
Explore the source record for details and available documents.