Publications by authors named "S Santos-Ribeiro"
A comprehensive study of common and rare genetic variants in spermatogenesis-related loci identifies new risk factors for idiopathic severe spermatogenic failure.
Hum Reprod Open
November 2024
Study Question: Can genome-wide genotyping data be analysed using a hypothesis-driven approach to enhance the understanding of the genetic basis of severe spermatogenic failure (SPGF) in male infertility?
Summary Answer: Our findings revealed a significant association between SPGF and the gene and identified three novel genes (, , and ) along with 32 potentially pathogenic rare variants in 30 genes that contribute to this condition.
What Is Known Already: SPGF is a major cause of male infertility, often with an unknown aetiology. SPGF can be due to either multifactorial causes, including both common genetic variants in multiple genes and environmental factors, or highly damaging rare variants.
Recommendations from the 2024 Australian evidence-based guideline for unexplained infertility: ADAPTE process from the ESHRE evidence-based guideline on unexplained infertility.
Med J Aust
October 2024
Article Synopsis
- The 2024 Australian evidence-based guideline offers recommendations for diagnosing and treating unexplained infertility in couples, tailored specifically for the Australian healthcare context and approved by national health authorities.
- The guideline contains 40 evidence-based recommendations, addressing areas such as defining infertility, diagnosing various factors contributing to infertility, and treatment options, with a focus on improving patient care.
- Key updates include a refined definition of unexplained infertility and a more comprehensive assessment process, integrating considerations of evidence quality, safety, and practicality for implementing these guidelines in Australia.
Obsessive-compulsive disorder (OCD) is a prevalent condition with multifactorial etiology involving genetic and environmental factors. The present study aims to summarize the correlates of stressful life events (SLEs) in OCD by reviewing studies comparing OCD associated or not with SLEs before its onset. To do so, a systematic review was performed by searching PubMed, Web of Science, Scopus, and PsycINFO databases for studies published between the database's inception and November 27, 2023.
View Article and Find Full Text PDFPurpose: This study aims to evaluate whether the clinical outcomes of cycles with frozen embryo transfer (FET) in hormonal replacement treatment supplemented with dydrogesterone (DYD) following detection of low circulating levels of progesterone (P4) were comparable to the results of cycles with otherwise normal serum P4 values.
Methods: Extended analyses of a retrospective cohort that included FET cycles performed between July 2019 and March 2022 after a cycle of artificial endometrial preparation using valerate-estradiol and micronized vaginal P4 (400 mg twice daily). Whenever the serum P4 value was considered low on the morning of the planned transfer, 10 mg of DYD three times a day was added as a supplement.
Article Synopsis
- This study investigates whether ovulation should be triggered with rHCG in a modified natural cycle (mNC) once a follicle reaches 17 mm in diameter or if a more flexible approach is feasible.
- It included 3087 frozen blastocyst transfers and assessed various pregnancy outcomes, showing no significant differences in rates of pregnancy or miscarriage based on the size of the follicle at triggering.
- The results suggest that rHCG can be administered flexibly when certain endometrial conditions are met, potentially allowing for easier scheduling of fertility treatments.*