Publications by authors named "Charles Muller"

Sperm cryopreservation is important for many individuals across the globe. Recent studies show that vitrification is a valuable approach for maintaining sperm quality after freeze-thawing processes and requires sub-microliter to microliter volumes. A major challenge for the adoption of vitrification in fertility laboratories is the ability to pipette small volumes of sample.

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Cancer prevention in hereditary gastrointestinal predisposition syndromes relies primarily on intensive screening (e.g., colonoscopy) or prophylactic surgery (e.

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Transgender and gender diverse (TGD) populations with hereditary cancer syndromes face unique obstacles to identifying and obtaining appropriate cancer surveillance and risk-reducing procedures. There is a lack of care provider knowledge about TGD health management. Lynch syndrome (LS) is one of the most common hereditary cancer syndromes, affecting an estimated 1 in 279 individuals.

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Here, we report on a rare case of a live birth following assisted oocyte activation of failed fertilized oocytes. A 34-year-old nulliparous woman presenting at a university-based assisted reproductive technology center with multi-factor infertility underwent an IVF cycle using intracytoplasmic sperm injection (ICSI) of frozen/thawed testicular sperm aspiration (TESA) sample and preimplantation genetic testing for aneuploidy (PGT-A). All oocytes displayed failed fertilization at assessment 18 h post-ICSI.

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Article Synopsis
  • Biomedical science is improving in transparency and reproducibility, which is crucial for research involving semen analysis.
  • Two key documents have been released: the WHO Laboratory Manual and the International Standard ISO 23162:2021, both focusing on semen examination protocols.
  • It is recommended that authors adhere to these guidelines when publishing their studies, ideally using a provided checklist for proper compliance.
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Introduction: Germline variants in CDH1 are associated with elevated risks of diffuse gastric cancer and lobular breast cancer. It is uncertain whether there is an increased risk of colorectal neoplasia.

Methods: This was a retrospective analysis of colonoscopy outcomes in patients with germline CDH1 pathogenic/likely pathogenic variants.

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 The majority of patients with 10 or more cumulative colorectal adenomas have uninformative genetic testing and meet criteria for colonic adenomatous polyposis of unknown etiology (CPUE). The yield of upper gastrointestinal screening in patients with CPUE after multi-gene panel testing is unknown and our objective was to characterize this.  A multicenter, retrospective analysis of screening upper endoscopies in adults with CPUE after multi-gene panel testing was performed.

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The incidence and mortality of colorectal cancer (CRC) have declined over the past several decades, largely due to improvement and uptake in screening, particularly with colonoscopy. The US Multi-Society Task Force on CRC published guidelines for surveillance after polypectomy in 2012, which were updated in 2020 with some important changes, and this review will provide an updated overview of evidence and outcomes of surveillance after polypectomy. Notable modifications to surveillance guidelines include increasing interval time between colonoscopies from 5 to 7 to 10 years for 1 to 2 low-risk adenomas (<10 mm) and from 3 years to 3 to 5 years when 3 to 4 low-risk adenomas are identified.

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Objective: To examine the association between cultivable vaginal Lactobacillus and fecundability in Kenyan women attempting nonmedically assisted conception.

Design: Prospective preconception cohort.

Setting: Nairobi and Mombasa, Kenya.

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Male germ cell (GC) production is a metabolically driven and apoptosis-prone process. Here, we show that the glucose-sensing transcription factor (TF) MAX-Like protein X (MLX) and its binding partner MondoA are both required for male fertility in the mouse, as well as survival of human tumor cells derived from the male germ line. Loss of Mlx results in altered metabolism as well as activation of multiple stress pathways and GC apoptosis in the testes.

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Purpose: Strict clinical criteria used by Medicare for germline testing for Lynch syndrome (LS) could lead to missed diagnoses of hereditary cancer syndromes given variable individual and family phenotypes. The aim of this study was to compare rates and spectrum of pathogenic or likely pathogenic (P/LP) variants in LS and other hereditary cancer genes on the basis of meeting Medicare LS testing criteria.

Methods: Retrospective review of Medicare beneficiaries who had multigene panel testing with an indication of personal or family history of colorectal cancer (CRC) was performed.

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Aims: To assess if marijuana consumption - prevalent among men of reproductive age and becoming widespread due to decriminalization - is associated with changes in semen parameters. Marijuana's active metabolite, tetrahydrocannabinol, can alter signaling pathways within spermatozoa, affecting spermatogenesis and fertility.

Methods: We prospectively evaluated semen analyses (SA) from men presenting for infertility evaluation at one institution from July 2017 to April 2018.

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Background & Aims: Serrated polyposis syndrome (SPS) is characterized by development of numerous serrated lesions throughout the colorectum and increased risk of colorectal cancer (CRC). However, SPS has been an underrecognized CRC predisposition syndrome, and the true risk of CRC in SPS, both overall and in surveillance, is not known. The aim of this systematic review and meta-analysis is to describe the risk of CRC in patients with SPS.

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The incidence and mortality of early-onset colorectal cancer (CRC) are increasing in the United States (US) and worldwide. In the US, there are notable disparities in early-onset CRC burden by race/ethnicity and geography. African Americans, Hispanic/Latinos, and populations residing in specific regions of the Southern U.

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Albumin, a vital protein in cell culture systems, is derived from whole blood or blood products. The culture of human gametes and developing embryos for assisted reproduction (ART) uses albumin of human origin. Human serum albumin (HSA) is derived from expired blood obtained from blood banks.

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Study Question: Is bacterial vaginosis (BV) associated with fecundability?

Summary Answer: Women with BV may be at increased risk for sub-fecundity.

What Is Known Already: While BV has been associated with poor IVF outcomes, the association between vaginal microbiota disruption and non-medically assisted conception has not been thoroughly explored.

Study Design, Size, Duration: Kenyan women with fertility intent were enrolled in prospective cohort that included monthly preconception visits with vaginal fluid specimen collection and pregnancy testing.

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Histone variants expand chromatin functions in eukaryote genomes. H2A.B genes are testis-expressed short histone H2A variants that arose in placental mammals.

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Background: Non-alcoholic fatty liver disease (NAFLD) has a heterogeneous distribution across racial and ethnic groups, with a disproportionate burden among Hispanics. Although there are currently no approved therapies for treatment of NAFLD, several therapies have been investigated in clinical trials.

Aim: To analyze the inclusion of racial and ethnic minority groups in clinical trials for NAFLD.

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Open microfluidic cell culture systems are powerful tools for interrogating biological mechanisms. We have previously presented a microscale cell culture system, based on spontaneous capillary flow of biocompatible hydrogels, that is integrated into a standard cell culture well plate, with flexible cell compartment geometries and easy pipet access. Here, we present two new injection molded open microfluidic devices that also easily insert into standard cell culture well plates and standard culture workflows, allowing seamless adoption by biomedical researchers.

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Purpose Of Review: Identification of Lynch syndrome is important from an individual patient and public health standpoint. As paradigms for Lynch syndrome diagnosis have shifted in recent years, this review will discuss rationale and limitations for current strategies as well as provide an overview of future directions in the field.

Recent Findings: In recent years, the use of clinical criteria and risk scores for identification of Lynch syndrome has been augmented by universal testing of all newly diagnosed colorectal cancers with molecular methods to screen for mismatch repair deficiency with high sensitivity and specificity.

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The incidence of colorectal cancer (CRC) and cancer-related mortality has increased in patients <55 years old. Consensus on optimal intervals for post-CRC surveillance colonoscopy in young patients is lacking. The primary endpoint of this study was comparison of rates of metachronous advanced neoplasia (AN) in patients diagnosed with CRC at <50 and 50-75 years.

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Once unimaginable, fertility management is now a nationally established part of cancer care in institutions, from academic centers to community hospitals to private practices. Over the last two decades, advances in medicine and reproductive science have made it possible for men, women and children to be connected with an oncofertility specialist or offered fertility preservation soon after a cancer diagnosis. The Oncofertility Consortium's National Physicians Cooperative is a large-scale effort to engage physicians across disciplines - oncology, urology, obstetrics and gynecology, reproductive endocrinology, and behavioral health - in clinical and research activities to enable significant progress in providing fertility preservation options to children and adults.

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