Embryo Selection for a Carrier of an Early-Onset Alzheimer's Disease-Associated Mutation in the PSEN1 Gene.

Alzheimer's disease (AD) is the most common neurodegenerative dementia. It manifests as early-onset or late-onset AD. Early-onset AD represents about 5.5% of the total cases and occurs in patients under age 65. The EOAD progresses more aggressively and has a shorter life expectancy due to a greater pathogenic load. We present two asymptomatic siblings, a 30-year-old male and a 34- year-old female, who are heterozygous carriers of a pathogenic variant c.428T>C (Ile143Thr) in the presenilin 1 (PSEN1) gene. During genetic counseling, assisted reproduction techniques (ART) coupled with embryo biopsy and a preimplantation genetic test for monogenic disorders (PGT-M) were recommended to provide reproductive care for the patients and their partners. ART and preimplantation genetic testing (PGT) have made it possible to have chromosomally normal and genetically unaffected offspring, allowing patients with genetic diseases to become parents.

Effect of a low glycemic diet in patients with polycystic ovary syndrome and anovulation - a randomized controlled trial.

OBJECTIVE: To determine whether a low glycemic index diet is better than a normal glycemic index diet in producing ovulatory cycles in women with polycystic ovary syndrome (PCOS) and anovulation. MATERIALS AND METHODS: A randomized controlled clinical trial involving 37 women with PCOS and anovulation. The authors randomly assigned low glycemic index diets (n = 19) and normal glycemic index (n = 18) diets, and analyzed the number of ovulatory cycles for three months. RESULTS: In patients who consumed a low glycemic index diet, 24.6% (14/57) of the cycles were ovulatory. In those who consumed a normal glycemic index diet, only 7.4% (4/54) of the cycles were ovulatory (p = 0.014). CONCLUSIONS: The difference observed in the number of ovulatory cycles could be related to a decrease in the serum levels of circulating androgens, secondary to an improvement in insulin resistance.

Normal "high" thyroid stimulating hormone (TSH) levels and pregnancy rates in patients undergoing IVF with donor eggs.

OBJECTIVE: To determine if a relationship exists between pregnancy rates obtained in patients undergoing in vitro fertilization (lVF) with donor eggs and levels of thyroid stimulating hormone greater than 2.5 mlU/L but still within a range considered normal. STUDY DESIGN: Retrospective comparative cohort study. With prior approval of the Ethics Committee, 233 patients undergoing IVF with donor eggs, in a two-year period, were included. Patients were grouped depending on the thyroid stimulating hormone (TSH) level. Pregnancy rates were compared. Statistical analysis was made with the Chi-square test. RESULTS: Pregnancy rates, depending on the TSH level, were 56.6% in patients with TSH levels below 2.49 mU/L vs. 21.6%, in patients with levels above 2.5 mU/L. This difference was statistically significant (p < 0.001). CONCLUSIONS: Mild abnormalities of thyroid function may adversely affect the pregnancy rates in patients un- dergoing in vitro fertilization with donor eggs. A possible alteration in endometrial function may be associated.