In vitro fertilization (IVF) in mammals: epigenetic and developmental alterations. Scientific and bioethical implications for IVF in humans.

The advent of in vitro fertilization (IVF) in animals and humans implies an extraordinary change in the environment where the beginning of a new organism takes place. In mammals fertilization occurs in the maternal oviduct, where there are unique conditions for guaranteeing the encounter of the gametes and the first stages of development of the embryo and thus its future. During this period a major epigenetic reprogramming takes place that is crucial for the normal fate of the embryo. This epigenetic reprogramming is very vulnerable to changes in environmental conditions such as the ones implied in IVF, including in vitro culture, nutrition, light, temperature, oxygen tension, embryo-maternal signaling, and the general absence of protection against foreign elements that could affect the stability of this process. The objective of this review is to update the impact of the various conditions inherent in the use of IVF on the epigenetic profile and outcomes of mammalian embryos, including superovulation, IVF technique, embryo culture and manipulation and absence of embryo-maternal signaling. It also covers the possible transgenerational inheritance of the epigenetic alterations associated with assisted reproductive technologies (ART), including its phenotypic consequences as is in the case of the large offspring syndrome (LOS). Finally, the important scientific and bioethical implications of the results found in animals are discussed in terms of the ART in humans.

In vitro fertilization (IVF) in mammals: epigenetic and developmental alterations: scientific and bioethical implications for IVF in humans

The advent of in vitro fertilization (IVF) in animals and humans implies an extraordinary change in the environment where the beginning of a new organism takes place. In mammals fertilization occurs in the maternal oviduct, where there are unique conditions for guaranteeing the encounter of the gametes and the first stages of development of the embryo and thus its future. During this period a major epigenetic reprogramming takes place that is crucial for the normal fate of the embryo. This epigenetic reprogramming is very vulnerable to changes in environmental conditions such as the ones implied in IVF, including in vitro culture, nutrition, light, temperature, oxygen tension, embryo-maternal signaling, and the general absence of protection against foreign elements that could affect the stability of this process. The objective of this review is to update the impact of the various conditions inherent in the use of IVF on the epigenetic profile and outcomes of mammalian embryos, including superovulation, IVF technique, embryo culture and manipulation and absence of embryo-maternal signaling. It also covers the possible transgenerational inheritance of the epigenetic alterations associated with assisted reproductive technologies (ART), including its phenotypic consequences as is in the case of the large offspring syndrome (LOS). Finally, the important scientific and bioethical implications of the results found in animals are discussed in terms of the ART in humans.

Antibodies to the amino-terminal domain of desmoglein 1 are retained during transition from pemphigus vulgaris to pemphigus foliaceus.

BACKGROUND: Pemphigus vulgaris (PV) and pemphigus foliaceus (PF) are two blistering skin diseases mediated by antibodies to desmoglein 3 (Dsg3) and/or Dsg1. Phenotypic transition from PV to PF is rarely reported. OBJECTIVES: To determine the immune response to extracellular (EC) domains of Dsgs during this transition. MATERIALS AND METHODS: We report two PV patients who subsequently developed a PF phenotype. To map the conformational epitopes in these cases, we examined the reactivity of the sera of two patients by immunoprecipitation-immunoblotting analysis, using five Dsg1/Dsg3 domain-swapped molecules on a backbone of Dsg2. RESULTS: Reactivity exclusively with the EC1 domain of Dsg1 was maintained in both PV and PF stages. No reactivity to Dsg3 in the PF stage was found in patient 1. Various changes in immunoreactivity to Dsg3 were found and the EC1 and EC2 domains of Dsg3 reacted weakly to serum taken at remission and PF stages in patient 2. CONCLUSIONS: Our findings suggest that amino-terminal pathogenic antibodies to the EC domain of Dsg1 were retained, while considerable epitope changes occurred in response to Dsg3 during the shift from PV to PF, with an absolute or significant decrease in pathogenic antibodies to the EC1 domain of Dsg3.

Fox Fordyce disease as a secondary effect of laser hair removal.

Fox Fordyce disease (FFD) has been recently described as an adverse effect of laser hair removal. It is an apocrine gland disorder characterized by pruritus and a folliculocentric papular eruption in apocrine sweat gland areas. Different etiologies have been proposed to be the cause of this entity. It has been suggested that a fisical factor could contribute to FFD phatogenesis. We report a new case of FFD after laser hair removal.

Partial unilateral lentiginosis treated with alexandrite Q-switched laser: case report and review of the literature.

Partial unilateral lentiginosis (PUL) is a rare pigmentary disorder characterized by multiple lentigines grouped within an area of normal skin, often in a segmental pattern and appearing at birth or in childhood. There is no established standard treatment for this condition. We present two cases of PUL succesfully treated with alexandrite Q-switched laser. In our cases, this laser proved to be a safe and effective treatment for cosmetically disfiguring lentigines. Special precautions are needed when treating dark-skinned patients because side effects are more likely. We propose that this modality be considered in the treatment of this rare disorder.

Three-dimensional histology for dermatofibrosarcoma protuberans: case series and surgical technique.

BACKGROUND: Dermatofibrosarcoma protuberans (DFSP) is a low-grade malignant skin tumor that may also infiltrate dermis and subcutaneous tissue. Although the mainstay of treatment has been wide local excision, during the last decade three-dimensional (3D) histology surgery has proven very effective for the treatment of this tumor. OBJECTIVE: We sought to evaluate the effectiveness of 3D histology surgery for the treatment of DFSP. METHODS: We retrospectively reviewed charts of patients with DFSP treated in our unit with 3D histology surgery between April 2000 and May 2011. Age at onset, gender, duration of tumor, previous treatment, lesion site, number of surgical stages, postsurgical defect size, closure technique, and follow-up were registered. RESULTS: A total of 29 patients were included. Mean patient age was 40.7 years. Fifteen lesions were located on the trunk, 11 on the extremities, and 3 in the head and neck region. Twelve patients had primary tumors and 17 were referred to us after incomplete excision. The average number of 3D histology surgical stages required for tumor clearance was 1.4. Mean postsurgical defect size was 26 cm(2). All lateral and deep borders excised were tumor-free. Mean follow-up period was 68 months (range 12-142 months) with a 0% recurrence rate. LIMITATIONS: This was a retrospective review. CONCLUSION: Three-dimensional histology surgery with paraffin sections is effective for the treatment of DFSP and feasible in an outpatient setting. The low recurrence rates obtained confirm the oncologic efficacy of the procedure. Furthermore, designing closure on the basis of focally affected margins improves functional and aesthetic outcomes without compromising oncological effectiveness.