Integración del Asesoramiento Genético y Reproductivo con la Psicoterapia: Reflexiones a través de un caso

The main objective of this article is to invite clinical psychologists and psychotherapists to think over the emotional and psychosocial impact that rare genetic diseases have on the individual. Both those affected and their families often need an accompaniment that, beyond the informative act of genetic counseling, helps them overcome the traumatic aspects and grief associated to the disease through a deep psychotherapeutic process. From an integrative look, the process should also include information about the bio-psychosocial support resources, promoting the access of those affected to health resources and associative support. In short, it’s about helping the patient and/or their family to rebuild and re-tell their life in a more autonomous and healthy way.El objetivo de este artículo es invitar a reflexionar a los profesionales de la psicología clínica y la psicoterapia sobre el impacto emocional y psicológico que las enfermedades genéticas minoritarias tienen sobre el individuo, y la necesidad que suelen tener las personas afectadas y sus familiares de un acompañamiento que, más allá del acto del consejo genético, les ayude a través de un proceso psicoterapéutico más profundo a superar los aspectos traumáticos y el duelo asociados a la enfermedad, para poder reconstruir y re-narrar su vida de una manera más autónoma y sana

A nonviable preparation of Lactobacillus acidophilus is not a probiotic

SummaryThe Friedreich ataxia (FA) mutation has recently been identified as an unstable trinucleotide GAA repeat present 7–22 times in the normal population but amplified as many as > 1, 000 times in FA. Since it is an autosomal recessive disease, FA does not show typical features observed in other dynamic mutation disorders, such as genetic anticipation. We have analyzed the GAA repeat in 104 FA patients and 163 carrier relatives previously defined by linkage analysis. The GAA expansion was detected in all patients, most (94%) of them being ho-mozygous for the mutation. We have demonstrated that clinical variability in FA is related to the size of the expanded alleles: milder forms of the disease—late-onset FA and FA with retained reflexes—are associated with shorter expansions, especially with the smaller of the two expanded alleles. Absence of cardiomyopathy is also associated with shorter alleles. Dynamics of the GAA repeat has been investigated in 212 parent-offspring pairs. Meiotic instability showed a sex bias: paternally transmitted alleles tend to decrease in a linear way that depends on the paternal expansion size, whereas maternal alleles can either increase or decrease. A different pattern of intergenerational variation was also observed, depending on the genetic status of the sib: patients had shorter expansions than were seen in heterozygous carriers. This finding has been interpreted as a postzygotic event. Finally, we have observed that the size of the expansion remains constant in the population through carriers

Mapping of Friedreich's ataxia locus by identification of recombination events in patients homozygous by descent.

The Friedreich's ataxia locus (FRDA) maps on chromosome 9q13. Genetic data, obtained from a small number of recombination events, indicated that the FRDA locus might be located centromeric to the D9S15/D9S5 linkage group, the most probable order being cen-FRDA-D9S5-D9S111-D9S15-D9S110-qter. Recently, new centromeric markers have been reported. Analysis of these markers allowed us to localize the recombination breakpoint in some of the recombinant families. However, only one proximal recombination has been found with these markers. To increase the genetic information from FRDA families, we have analyzed the centromeric markers FR1, FR2, FR7, FR8, and FR5 in patients homozygous by descent. These were ascertained because parents were consanguineous or because they were homozygous for the entire haplotype D9S15 or D9S111-D9S5-D9S411E-D9S202. Haplotype divergence for, at least, two contiguous markers was observed in two patients homozygous for the core D9S111-FR2 haplotype and in one third-degree consanguineous family homozygous for haplotype D9S411E-FR5. Interpretation of divergence as the result of ancient meiotic crossovers allowed the definition of three new recombination events which place the FRDA locus within the interval defined by markers D9S411E and FR8. A consanguineous family with first-cousin parents showed homozygosity only at D9S202 and FR2. Further investigations are needed to discern whether two different mutations are segregating in the family or whether two recombinations, one distal and one proximal, have taken place.Journal ArticleResearch Support, Non-U.S. Gov'tinfo:eu-repo/semantics/publishe