Copy number variation analysis implicates novel pathways in patients with oculo-auriculo-vertebral-spectrum and congenital heart defects.

Oculo-auriculo-vertebral spectrum (OAVS) is a developmental disorder of craniofacial morphogenesis. Its etiology is unclear, but assumed to be complex and heterogeneous, with contribution of both genetic and environmental factors. We assessed the occurrence of copy number variants (CNVs) in a cohort of 19 unrelated OAVS individuals with congenital heart defect.

Genetic Testing and Clinical Management Practices for Variants in Non-BRCA1/2 Breast (and Breast/Ovarian) Cancer Susceptibility Genes: An International Survey by the Evidence-Based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) Clinical Working Group.

Purpose: To describe a snapshot of international genetic testing practices, specifically regarding the use of multigene panels, for hereditary breast/ovarian cancers. We conducted a survey through the Evidence-Based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) consortium, covering questions about 16 non-/ genes.

Methods: Data were collected via in-person and paper/electronic surveys.

Immunohistochemical Expression of Progesterone Receptors in Nonmeningothelial Central Nervous System Tumors.

Introduction: Immunostaining of progesterone receptors (PRs) has been described as a prognostic factor related to recurrences in meningiomas. However, its expression in other primary intracranial tumors has been poorly studied. In this paper, we compare the pattern of expression of the receptor in meningiomas with that of nonmeningothelial intracranial tumors to evaluate its value in the diagnosis of the former.

Short-time critical dynamics of damage spreading in the two-dimensional Ising model.

The short-time critical dynamics of propagation of damage in the Ising ferromagnet in two dimensions is studied by means of Monte Carlo simulations. Starting with equilibrium configurations at T=∞ and magnetization M=0 , an initial damage is created by flipping a small amount of spins in one of the two replicas studied. In this way, the initial damage is proportional to the initial magnetization M0 in one of the configurations upon quenching the system at T C, the Onsager critical temperature of the ferromagnetic-paramagnetic transition.

[Gastric dysplasia: its incidence in precancerous conditions, advanced cancer and early cancer].

Dysplasia cancer sequence has not been determined in gastric cancer yet. Dysplastic changes are not frequent. Gastric cancer generally develops in areas of chronic atrophic gastritis.