Comprehensive carrier genetic test using next-generation deoxyribonucleic acid sequencing in infertile couples wishing to conceive through assisted reproductive technology.

Objective: To develop an expanded pan-ethnic preconception carrier genetic screening test for use in assisted reproductive technology (ART) patients and donors.

Design: Retrospective analysis of results obtained from 2,570 analyses.

Setting: Reproductive genetic laboratory.

Case report: birth of healthy twins after preimplantation genetic diagnosis of propionic acidemia.

Purpose: Development of an ad hoc protocol for the preimplantion genetic diagnosis of propionic acidemia in a couple carrying the mutations c.737G>T (G246V) and c.1218del14ins12 (ins/del) in the PCCB gene.

Case report: first successful application of preimplantation genetic diagnosis for hereditary angiooedema.

Hereditary angiooedema is an autosomal dominant disease caused by mutations in the SERPING1 gene. It is characterized by oedemas in different parts of the body, being particularly dangerous when swelling involves the upper airway. Preimplantation genetic diagnosis (PGD) was performed in a couple where the woman carries a deletion of 2.

Successful application of preimplantation genetic diagnosis for hypokalaemic periodic paralysis.

Hypokalaemic periodic paralysis is a rare dominant inherited disease where a person suffers sudden falls of circulating potassium concentrations, producing muscle weakness and sometimes severe paralysis. Attacks can occur as frequently as several times a day or once in a year. The age of onset is usually adolescence but symptoms can appear as early as 10 years of age.

Preimplantation genetic diagnosis of P450 oxidoreductase deficiency and Huntington Disease using three different molecular approaches simultaneously.

Purpose: Description of the confluence of different molecular techniques to detect three different mutations in one cell. The man carries a 20 base pair insertion in exon 12 of the POR gene (c.1551_1552ins20), and the woman carries a point mutation in exon 8 of the POR gene (c.

Quality management system in PGD/PGS: now is the time.

Purpose: Governments and international authorities require an accreditation of the PGD/PGS laboratories in order to ensure the safety and reproducibility of these analytical procedures. The implementation of a Quality Management System is the first mandatory step prior to accreditation. Our aim is to offer a detailed guidance to the PGD/PGS community that would like to implement this system in the future.

Epstein-Barr virus in oral proliferative verrucous leukoplakia and squamous cell carcinoma: A preliminary study.

The aim of this study was to analyze proliferative verrucous leukoplakia (PVL) and oral squamous cell carcinoma (OSCC) for the possible presence of Epstein-Barr virus (EBV). We studied three groups: Sub-Group 1 was composed of 10 patients with PVL, (6 of whom had developed OSCC); Sub-Group 2 comprised 5 patients with OSCC but no preceding PVL; and Sub-Group 3 were 5 controls with clinically normal oral mucosa. Oral biopsies from all cases were examined for Epstein-Barr virus (EBV) by nested PCR.

Lack of association between proliferative verrucous leukoplakia and human papillomavirus infection.

Purpose: To analyze proliferative verrucous leukoplakia (PVL) for the presence of human papillomavirus (HPV) in different stages of the disease.

Materials And Methods: We studied 13 patients with PVL. In 10 patients (76.

A new set of DNA macrochips for the yeast Saccharomyces cerevisiae: features and uses.

The yeast Saccharomyces cerevisiae has been widely used for the implementation of DNA chip technologies. For this reason and due to the extensive use of this organism for basic and applied studies, yeast DNA chips are being used by many laboratories for expression or genomic analyses. While membrane arrays (macroarrays) offer several advantages, for many laboratories they are not affordable.

DNA chips for yeast biotechnology. The case of wine yeasts.

The yeast Saccharomyces cerevisiae is one of the most popular model organisms. It was the first eukaryote whose genome was sequenced. Since then many functional analysis projects have tried to find the function of many genes and to understand its metabolism in a holistic way.

Insecticidal activity of strains of Bacillus thuringiensis on larvae and adults of Bactrocera oleae Gmelin (Dipt. Tephritidae).

The olive fly, Bactrocera oleae, is the key pest on olives in the Mediterranean area. The pest can destroy, in some cases, up to 70% of the olive production. Its control relies mainly on chemical treatments, sometimes applied by aircraft over vast areas, with their subsequent ecological and toxicological side effects.

Structural analysis of Drosophila subobscura gypsy elements (gypsyDs).

The study of gypsy elements in Drosophila subobscura (gypsyDs) indicated that they are transcriptionally active and mobile. From the comparative analysis of a complete gypsyDs element with the canonical gypsy sequence from D. melanogaster (gypsyDm) it can be deduced that while the whole structure is maintained, the gypsyDs ORF3 encodes a non-functional Env protein.

Molecular structure of a gypsy element of Drosophila subobscura (gypsyDs) constituting a degenerate form of insect retroviruses.

We have determined the nucleotide sequence of a 7.5 kb full-size gypsy element from Drosophila subobscura strain H-271. Comparative analyses were carried out on the sequence and molecular structure of gypsy elements of D.

[A four year study of therapeutical observation of patients with hypertension].

We attempt to quantify compliance with hypotension medication regimens in 620 patients with hypertension at the Centros de Salud (community health centers) of Novelda and Elche (in the province of Alicante) and to assess the impact of a mixed-strategy health education program. The method used to evaluate compliance is the self-communicated interview as indicated by Haynes-Sackett. The intervention consisted of individualized instruction, family support, educational leaflets, and written instructions.

[Indicators of follow-up activities undertaken by an arterial hypertension unit over a 5 year period].

Objective: To assess the efficacy and effectiveness of an AHT programme by means of indicators which analyse the coverage, results and attendance.

Setting: AHT unit at the Health Centre in Novelda, Alicante.

Design: A quasi-experimental design of internal comparison with temporal series.

Gypsy homologous sequences in Drosophila subobscura (gypsyDS).

Characterization of sequences homologous to the Drosophila melanogaster gypsy transposable element was carried out in Drosophila subobscura (gypsyDS). They were found to be widely distributed among natural populations of this species. From Southern blot and in situ analyses, these sequences appear to be mobile in this species.

Distribution of gypsy sequences in Drosophila species of the obscura subgroup.

Eight Drosophila species of the obscura subgroup were screened for sequences homologous to the gypsy retrotransposon of D. melanogaster. Molecular characterization of gypsy sequences was first approached through digesting genomic DNAs from these obscura species with appropriate restriction enzymes and subjecting them to Southern blot analysis.