Caio Parente Barbosa

Approximately 20% of infertility cases have a genetic origin. Preimplantation genetic testing (PGT) is an early prenatal diagnostic tool to prevent genetic disorders through embryo selection. Given its complexity, PGT requires a multidisciplinary approach, including psychosocial support, as infertility impacts mental health and overall well-being. Patients undergoing PGT often face prior miscarriages or IVF failures, elevating negative emotions and reducing quality of life. To compare affect levels, need for parenthood, and quality of life in IVF patients with and without PGT indications. This observational cross-sectional study included 375 patients divided into ‘PGT’ (n = 73) and ‘non-PGT’ ( n = 302) groups. Participants completed the Positive and Negative Affect Schedule (PANAS), Need for Parenthood scale, and Fertility Quality of Life tool (FERTIQOL). Group comparisons were conducted. The groups did not differ in terms of gender, type and cause of infertility, and psychotropic medication use. The PGT group reported higher negative emotions, lower quality of life compared to the non-PGT group. Both groups showed high levels of need for parenthood. Patients indicated for PGT require greater support and monitoring, experiencing a significant emotional impact from the outset of treatment.

INTRODUCTION Premature ovarian insufficiency (POI) is a clinical syndrome characterized by oligo/amenorrhea observed in women before the age of 40 years, lasting at least 4 months, with elevated follicle-stimulating hormone (FSH) levels.() Its diagnosis is confirmed by two serum measurements conducted at least 1 month apart that show high FSH levels (>25IU/L) and low estradiol levels.() The condition is caused by varying factors, including genetic, immunological, or metabolic factors; iatrogenic intervention; and environmental toxins. The reason is idiopathic in 90%

O curso de Medicina apresenta alta concorrência e custos elevados, sobretudo em instituições privadas. Compreender as motivações que orientam a escolha desse curso pode auxiliar instituições na prevenção de frustrações e no cuidado com a saúde física e mental dos estudantes. Este estudo teve como objetivo avaliar a percepção da influência financeira na decisão de ingressar em Medicina. Trata-se de um estudo transversal realizado em 2022, com aplicação de questionários eletrônicos de valoração forçada e questões abertas a alunos de uma faculdade particular. Foram analisadas quatro categorias de motivação: conquista pessoal, financeira ou custo-benefício, influência e afinidade. Variáveis qualitativas foram apresentadas por frequência absoluta e relativa, sendo comparadas pelo teste Exato de Fisher. A análise de discurso seguiu Bardin, com validação por Lynn. Utilizou-se ainda a matriz SWOT (Strengths, Weaknesses, Opportunities, Threats) para organizar criticamente os achados e refletir sobre seus pontos fortes, fragilidades e implicações institucionais. Entre os 42 estudantes entrevistados, a maioria apontou vocação e altruísmo como principais motivações. Contudo, 13 (31%) mencionaram espontaneamente a influência financeira, enquanto 31 (73,8%) a confirmaram quando questionados diretamente. Entre estes, 26 (83,9%) destacaram estabilidade financeira e conforto, cinco (16,1%) ressaltaram não ser decisiva, mas relevante, e três (9,7%) relacionaram ao status social. Conclui-se que a influência financeira é um fator predominante na escolha pela Medicina, embora muitas vezes subestimado em respostas espontâneas. Quando abordada de forma específica, sua confirmação aumenta em 43%, revelando impacto expressivo no processo decisório.

Introduction: intimate partner violence is highly prevalent in Brazil. Among the serious consequences for women’s health, pregnancy resulting from this circumstance stands out. Objective: To compare pregnancy and abortion characteristics among women with sexual violence committed by an intimate partner and an unknown aggressor. Methods: cross-sectional study with women aged ≥14 years with pregnancies resulting from sexual violence and legal abortion request attended at the Pérola Byington Hospital, São Paulo, Brazil, between 1994 and 2018. They compared 1,881 cases in which the sexual offender was a stranger with 192 cases committed by the intimate partner. The variables considered sociodemographic data of the pregnant woman, sexual violence, legal procedures and abortion, analyzed in SPSS 20.0 software. Study approved by the Research Ethics Committee of the São Francisco de Barreiras University Center, No. 3,668,297. Results: pregnant women who were assaulted by an intimate partner had a higher mean age (27.4±6.8 years), reported less work (p=0.032) and were not in a union (p=0.010). Cases involving an intimate partner had a higher frequency of physical violence (p<0.001) in the private space (p<0.001), with less search for the pregnant woman by the police (p=0.013) and medico-legal examination (p=0.034). Abortion was similar in both groups, but dropout from the procedure was higher in cases with an intimate partner (p=0.001). Conclusion: when pregnant with sexual violence perpetrated by an intimate partner, women have different trajectories from those raped by strangers to resort to legal abortion. The lesser disclosure to the police of the crime and the greater withdrawal of legal abortion may suggest an intimidating role of the aggressor intimate partner.

Highlights ■ The MCM8 gene is involved in homologous recombination, acting in the ovarian follicles during meiosis II. ■ To the best of our knowledge, this is the first study to report the presence of this variant in a Brazilian woman. ■ The rs138761187 variant had a low incidence; further studies with a larger sample size or focusing on variants at other gene positions may provide insight into the genetic causes of premature ovarian insufficiency. ABSTRACT Introduction: The MCM8 gene

Background: A women’s chances of getting pregnant decreases in cases of infertility, which may have several clinical etiologies. The prevalence of infertility is estimated as 10–15% worldwide. One of the causes of infertility is endometriosis, defined as the presence of an endometrial gland and/or stroma outside the uterus, inducing a chronic inflammatory reaction. Thus, infertility and endometriosis are diagnoses that significantly affect women’s mental health. This study accessed and compared the levels of depression, anxiety, and quality of life in infertile women with and without endometriosis. Methods: was an observational and cross-sectional study which included 201 infertile women, 81 of whom were also diagnosed with endometriosis. The STROBE Guidelines was used. The data were collected using validated scales: Hamilton D Questionnaire, Beck Depression Inventory, and Fertility Quality of Life Questionnaire; The data were collected at the Ideia Fertil Institute (Santo Andre, Brazil), between February 28 and June 8, 2019. Results: the infertile women with endometriosis reported higher presence of depressive symptoms and a lower quality of life compared to women with infertility only. Similar presence of anxiety symptoms was observed regardless of being diagnosed with endometriosis. Women with infertility and endometriosis presented lower levels in quality-of-life domains when compared to women with infertility only - Mind and Body (58.33 × 79.17, p < 0.001), Relational (75 × 81.25, p = 0.009), Social (66.67 × 77.08, p = 0.001), Emotional (50.62 × 67.43, p < 0.001). Conclusion: the findings indicate the need for increased psychosocial support care for women suffering from infertility and endometriosis to assist them in maintaining and managing their own mental health and achieving their reproductive goals.

Background: Huntington’s disease is a rare, neurodegenerative, autosomal dominant disorder with adult onset caused by an expansion of 36 or more CAG trinucleotide repeats in the HTT gene. In Brazil and in some other countries, carriers of HTT’s expanded allele of submitted to in vitro fertilization procedure can investigate embryos genetically to identify the ones that have inherited the expanded allele and the ones that inherited only the normal size alleles. In some instances, an individual has a positive familial history for the disease and do not want to know his/her personal carrier status but is willing to conceive children without the disease. Objective: to demonstrate the reproductive possibilities available to patients with Huntington disease through a case report and literature review. Methods: Here, we discussed the application and viability of the genetic screening techniques, based on a non-disclosure case of Preimplantation Genetic Testing (PGT). Results: a couple submitted to a non-disclosure test for Huntington disease was submitted to IVF, embryo biopsy and genetic analysis of the samples due to a familial history of the condition. Chromosome and mutation specific tests were applied, and one embryo was selected for uterine transfer. The couple was not informed why the other embryos were discharged. Conclusion: Although many ethical and practical aspects are involved in this decision, a non-disclosure PGT can be offered as an option for these couples, besides sperm, egg or embryo adoption, or child adoption.

Highlights First study to investigate the rs10835638 variant in Brazilian women with endometriosis. The homozygous TT genotype was very rare among Brazilian women. G۪۪enotype frequencies did not differ between endometriosis and Control Groups. The T allele was more common in minimal/mild endometriosis subgroups than in the Control Group. ABSTRACT Objective: The follicle-stimulating hormone subunit beta gene rs10835638 variant (c.-211G>T) may have detrimental effects on fertility and protective effects against endometriosis. A casecontrol analysis was performed, aiming to investigate the possible

Objective: To assess whether there is an association between the level of progesterone on the day of administration of human chorionic gonadotropin and clinical and laboratory characteristics, in addition to the results of in vitro fertilization of patients with a good prognosis. Methods: A cross-sectional study comprising 103 women who underwent intracytoplasmic sperm injection treatment, between November 2009 and May 2015, aged ≤35 years, with no comorbidities, with fresh embryo transfer. Data were collected from patient medical records. Results:

Background: Homocysteine levels can be impacted by enzymes variations. Aim: To correlate MTHFR, MTR and MTRR variants with homocysteine levels in the blood and follicular fluid and assisted reprodu... Plain language summary What was the aim of the study? To correlate genetic variants to homocysteine levels in the blood and oocyte surrounding fluid, and the results of assisted reproduction techni... Tweetable abstract Study of 152 assisted reproduction patients found decreased follicular homocysteine levels in patients with endometriosis and a tendency to better clinical pregnancy results. A g... Graphical abstract