Variant classification of hereditary cancer genes is affected by genomic underrepresentation of admixed populations.

Variant classification in genetic testing often culminates in "uncertain" calls, known as variants of uncertain significance (VUS), which remain a major clinical challenge. Among the established criteria for variant classification, population allele frequency (AF) is fundamental, yet under-representation of non-European groups hinders accurate interpretation. In this study, we evaluated the impact of population-specific AF on the reclassification of VUS and conflicting variants in hereditary cancer genes.

Neural crosstalk and symptom overlap: The correlation between urinary and intestinal symptoms in patients undergoing colonoscopy.

Purpose: Neural crosstalk in the pelvis involves intrinsic communication networks among pelvic structures that direct afferent inputs to converge on neurons, leading to viscerovisceral and somatovisceral reflexes. We aimed to explore the overlap between intestinal and urinary symptoms and their correlations in patients undergoing colonoscopy.

Materials And Methods: Cross-sectional study with 167 participants who underwent colonoscopy and were assessed using three self-administered questionnaires: the International Prostate Symptom Score (IPSS) for lower urinary tract symptoms, the International Consultation on Incontinence Questionnaire Overactive Bladder (ICIQ-OAB) for overactive bladder symptoms, and the Gastrointestinal Symptom Rating Scale (GSRS) for gastrointestinal (GI) symptoms.

Compound Heterozygous Variants in ZSWIM7 Gene Linked to Infertility and Its Role in Gonadal Development.

This study aims to elucidate the role of the ZSWIM7 gene in the etiology of infertility, focusing on its potential association with premature ovarian insufficiency and azoospermia. We investigated an 18-year-old female patient who presented with primary amenorrhea, hypoplasia of the uterus and ovaries, Tanner stage II breast and pubic hair development, severe scoliosis (surgically repaired), recurrent urinary infections, and hypothyroidism. Genetic analysis revealed two heterozygous variants: a loss-of-function frameshift mutation in ZSWIM7 and a chromosomal deletion encompassing the same gene-a combination not previously described in the literature.

The effect of COVID-19 vaccination on serum levels of anti-Müllerian hormone in women of reproductive age.

Objective: To evaluate the effects of COVID-19 vaccination (AstraZeneca® and CoronaVac®) on anti-Müllerian hormone (AMH) levels in threatened women.

Methods: Retrospective cohort study evaluating serum AMH before and up to three vaccination doses against COVID-19 between 2021 and 2022 at FMABC. Statistical analysis presented in Stata 14.

Morphology and spatial distribution of cortical bone canals: Evaluation of shape parameters, lacunarity, and fractal dimension in the human irradiated mandible.

This study aimed to assess the spatial distribution of cortical bone canals' network through the analysis of lacunarity (Lac), fractal dimension (FD), and canal morphological parameters in the mandible (IR group, n = 7) of human patients under radiotherapy in comparison with non-irradiated younger (yC group, n = 8) and older (oC group, n = 8) individuals. Patients who underwent mandibular surgery were selected to have bone fragments removed during surgery, and undecalcified histological slides were analyzed by phase-contrast microscopy by two operators. The following morphological parameters were assessed in the Haversian canal (Ca): area (Ca·Ar, μm), perimeter (Ca·Pm, μm), and circularity (Ca.

Salvage local treatment for recurrent prostate cancer after focal therapy: A systematic review and meta-analysis.

Objectives: To evaluate the role of salvage local treatment in managing recurrent PCa following FT, focusing on oncological and functional outcomes.

Methods: A systematic review and meta-analysis were performed following the PRISMA framework. A comprehensive literature search using the PubMed/MEDLINE and EMBASE databases was performed until July 2023.

Low and High-Normal Triplet Cytosine, Guanine Guanine Repeats Affect Ovarian Reserve and Fertility in Women Who Underwent Fertilization Treatment? Results from a Cross-Sectional Study.

Dynamic mutations in the 5' untranslated region of are associated with infertility. Premutation alleles interfere with prenatal development and increase infertility risks. The number of CGG repeats that causes the highest decrease in ovarian reserves remains unclear.

Outcomes of ablative therapy and radical treatment for prostate cancer: a systematic review and meta-analysis.

Purpose: To compare biochemical recurrence, sexual potency and urinary continence outcomes of ablative therapy and radical treatment (radical prostatectomy or radiotherapy with androgen deprivation therapy).

Material And Methods: A systematic review and meta-analysis followed the PRISMA guidelines were performed. We searched MEDLINE/PubMed.

Cornual Pregnancy: Results of a Single-Center Retrospective Experience and Systematic Review on Reproductive Outcomes.

: Cornual pregnancies (CPs) are rare forms of ectopic pregnancy. When abortion does not occur, it can be a life-threatening condition for the mother and can also impair future fertility. We present our experience in the diagnosis and management of CPs.

Does vaginal surgery for correction of pelvic organ prolapse improve urinary function? A prospective cohort study.

Introduction And Hypothesis: Pelvic organ prolapse (POP) is caused by an imbalance in the stability of the pelvic organs, resulting in loss of support. The most common types of POP, anterior and apical, are associated with lower urinary tract symptoms (LUTS) such as bladder outlet obstruction and detrusor overactivity (DO). Vaginal surgery may improve LUTS and overall urinary symptoms.

Implication of FSHB rs10835638 variant in endometriosis in Brazilian women.

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 case-control analysis was performed, aiming to investigate the possible relationship between this variant and the development and/or progression of endometriosis.

Effects of Low Luteinizing Hormone Serum Levels on Oocyte Retrieval, Fertilization Rate, and Embryo Quality during Controlled Ovarian Stimulation: Results from a Prospective Cohort Analysis.

Objectives: Luteinizing hormone (LH) plays a key role in normal follicular development and oocyte maturation in controlled ovarian stimulation. LH stimulates the proliferation and differentiation of theca cells for the secretion of androgens, synergistically increasing estrogen production. This study aimed to investigate the effects of low LH concentrations on oocyte retrieval, fertilization, and embryo development in patients undergoing in vitro fertilization/intracytoplasmic sperm injection.

Live birth after single euploid frozen embryo transfer in a 39-year-old woman with high-grade mosaic Turner syndrome.

Objective: To describe the reproductive and obstetric outcomes of an intracytoplasmic sperm injection cycle with preimplantation genetic testing for aneuploidy in an advanced reproductive-age woman with high-grade mosaic Turner syndrome.

Methods: Case report of a 39-year-old woman diagnosed with mosaic Turner Syndrome 45,X[90]/46,XX[10] karyotype who underwent fertilization treatment with blastocyst trophectoderm biopsy for preimplantation genetic testing using next-generation sequencing.

Result(s): Two of the four blastocysts biopsied were euploid.

Oral health-related quality of life in patients aged 8 to 19 years with cleft lip and palate: a systematic review and meta-analysis.

Background: Cleft lip and palate (CLP) is the most common facial birth defect worldwide and causes morphological, aesthetic, and functional problems with psychosocial implications for an individual's life and well-being. The present systematic review and meta-analysis assessed whether the treatment of CLP impacts the oral health-related quality of life (OHRQoL) in children and adolescents in comparison to healthy controls.

Methods: We searched MEDLINE/PubMed, EMBASE, and PsycINFO databases using terms related to CLP, and included articles until August 2023.

Involvement of SYCP2L and TDRD3 gene variants on ovarian reserve and reproductive outcomes: a cross-sectional study.

Objective: Single nucleotide variants have been implicated in the response to fertility treatment and a pharmacogenomic approach may help to customize therapy based on patient genome. We aimed to evaluate the effect, individual and combined, of SYCP2L (rs2153157:G>A) and TDRD3 (rs4886238:G>A) variants on ovarian reserve, response to controlled ovarian stimulation (COS) and reproductive outcomes of women undergoing in vitro fertilization (IVF) treatment.

Methods: This cross-sectional study included 149 normoovulatory women undergoing IVF.

Impact of COVID-19 pandemic on prostate cancer outcomes at an uro-oncology referral center.

Introduction: To evaluate the possible effects of the coronavirus disease 2019 (COVID-19) pandemic on the oncologic results of patients with prostate cancer regarding clinical staging, presence of adverse pathological outcomes, and perioperative complications.

Materials And Methods: This retrospective study included patients who underwent radical prostatectomy. The time between biopsy and surgery, staging tests, final histopathological evaluation after surgery, lymphadenectomy rate, postoperative complications, and prostatic specific antigen (PSA) levels (initial and 30 days after surgery) were analyzed and compared in a group of patients before and during the pandemic period.

Oxidative homeostasis in follicular fluid and reproductive outcomes - from bench to bedside.

Free radicals and oxidant molecules are part of our organism in a stable balance. However, when addressing female infertility, questions about their role in oocyte quality arise. This review outlines the major alterations of redox homeostasis in the follicular fluid through pathophysiological conditions in female reproduction and its potential effect on IVF outcome.

Mucormycosis causing oral and nasal osteonecrosis in a case of acute myeloid leukemia.

Aims: Mucormycosis is a rare and aggressive fungal infection with a high mortality rate because of its rapidly progressive and destructive nature. The oral cavity is often affected under opportunistic conditions. We report a 34-year-old woman diagnosed with acute myeloid leukemia complained of slight swelling on the right side of her face with toothache and gingival swelling.

Rectal leiomyosarcoma as the initial phenotypic manifestation of Li-Fraumeni-like syndrome: a case report and review of the literature.

Background: Leiomyosarcoma is a rare malignant tumor of smooth muscle origin and represents 10-20% of all soft tissue sarcomas. Primary colon and rectal sarcomas constitute < 0.1% of all large bowel malignancies.

Effect of thyroid function on assisted reproduction outcomes in euthyroid infertile women: A single center retrospective data analysis and a systematic review and meta-analysis.

Background: The influence of thyroid-stimulating hormone (TSH) on gestational outcomes have been studied and checked whether differing TSH levels are relevant on human reproduction outcomes. International guidelines recommend TSH values <2.5 mIU/L in women trying to conceive, since values above this level are related to a higher frequency of adverse reproductive outcomes.