Publications by authors named "Koscinski I"

The COVID-19 pandemic, driven by SARS-CoV-2, led authorities to recommend halting assisted reproductive technology programs, focusing instead on fertility preservation, for cancer patients. The presence of SARS-CoV-2 in semen remains controversial. This multicentric prospective cohort study, conducted across 12 university medical centers, aimed to determine if SARS-CoV-2 is present in spermatozoa/seminal plasma in cancer patients by RT-PCR and to assess its impact on standard semen parameters.

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Article Synopsis
  • The study investigates the link between parental occupational exposure to solvents and the risk of testicular germ cell tumors (TGCT) in their sons, focusing on environmental risk factors during pregnancy.
  • The research involved a nationwide case-control study in France with 454 TGCT cases and 670 controls, assessing parental job exposure to various solvents through structured interviews and job-exposure matrices.
  • Findings indicated a slight increase in TGCT risk associated with paternal exposure to certain solvents, particularly trichloroethylene, and a higher risk for men born in the 1970s with maternal exposure to fuels, but overall no strong connection between solvent exposure and TGCT was established.
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Endometriosis is a chronic disease caused by ectopic endometrial tissue. Endometriotic implants induce inflammation, leading to chronic pain and impaired fertility. Characterized by their dependence on estradiol (via estrogen receptor β (ESRβ)) and their resistance to progesterone, endometriotic implants produce their own source of estradiol through active aromatase.

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Male factors are suspected in around half cases of infertility, of which up to 40% are diagnosed as idiopathic. In the context of a continuously increased resort to ART and increased decline of semen parameters, it is of greatest interest to evaluate an additional potential biomarker of sperm quality. According to PRISMA guidelines, this systematic review of the literature selected studies evaluating telomere length in sperm and/or in leukocytes as a potential male fertility biomarker.

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Background: The increase in paternal age and the percentage of births after assisted reproductive technologies (ART) may have consequences on offspring and society's position regarding access to ART must be questioned. Most countries recommend limiting ART to men under 60 years. What is the rationale for this threshold?

Objective: This systematic review assesses scientific arguments to establish links between paternal age, male fertility, and offspring health.

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Purpose: To provide ways to improve the clinical practice of fertility preservation (FP) for children, adolescents, and young adults (AYA) with cancer.

Design: A systematic research of online databases was undertaken in March 2020 following the PRISMA criteria, including Medline and Web of Science.

Results: Fifty-nine articles were included.

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Although the respiratory tract is the main target of SARS-CoV-2, other tissues and organs are permissive to the infection. In this report, we investigated this wide-spectrum tropism by studying the SARS-CoV-2 genetic intra-host variability in multiple tissues. The virological and histological investigation of multiple specimens from a post-mortem COVID-19 patient was performed.

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Background: Cryopreservation of ovarian tissue is a fertility-preservation option for women before gonadotoxic treatments. However, cryopreserved ovarian tissue transplantation must be performed with caution in women with malignancies that may metastasize to the ovaries. For this purpose, detecting minimal residual disease (MRD) in the ovarian cortex using sensitive methods is a crucial step.

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Women's fertility is characterized both quantitatively and qualitatively mainly by the pool of ovarian follicles. Monthly, gonadotropins cause an intense multiplication of granulosa cells surrounding the oocyte. This step of follicular development requires a high proliferation ability for these cells.

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Article Synopsis
  • Many transgender individuals have high reproductive desires, but fertility preservation and sperm donation options in France were limited until recently due to restrictive Bioethics Law.
  • A national survey conducted at 28 reproductive technology centers revealed that a significant number of these centers provide services for fertility preservation, with 71.4% treating transgender patients.
  • Results indicated that transgender women are more likely to seek and achieve fertility preservation compared to transgender men, and a notable percentage of centers offer sperm donation services for couples including transgender men.
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Background: The aim of these Association Française d'Urologie (AFU) and Société d'Andrologie de Langue Française (SALF) common recommendations are to provide practice guidelines for the French Urological and Andrological community regarding the evaluation of infertile men.

Material And Methods: Literature search in PubMed using the keywords "male infertility", "diagnosis", "management" and "evaluation" limited to clinical articles in English and French prior to 1/01/2020. To inform the level of evidence, the HAS grading system (2013) was applied.

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Purpose: Bardet-Biedl syndrome (BBS) is a ciliopathy with a wide spectrum of symptoms due to primary cilia dysfunction, including genitourinary developmental anomalies as well as impaired reproduction, particularly in males. Primary cilia are known to be required at the following steps of reproduction function: (i) genitourinary organogenesis, (ii) in fetal firing of hypothalamo-pituitary axe, (iii) sperm flagellum structure, and (iv) first zygotic mitosis conducted by proximal sperm centriole. BBS phenotype is not fully understood.

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In the context of a continuously increased delay of motherhood and of an increase of the incidence of premature ovarian failure, it is of the greatest interest to dispose of a predictive marker of the duration of the fertility window. Unfortunately, current available markers of women's fertility (hormonal rates or echography count of small follicles) have a poor predictive value of premature ovarian failure. In the last ten years, some studies have suggested that telomere length may be correlated with premature ovarian failure, but the results of these studies are contradictory.

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Introduction: Turner syndrome is one of the most frequent chromosomal abnormalities in women, with a prevalence estimated to be 1 of 2500 live birth. Pregnancy in women with Turner syndrome is known to be at high risk, whether it is spontaneous or after oocyte donation, because of miscarriages and potential cardio-vascular complications which can be life-threatening. All of these patients should therefore be screened with a comprehensive cardio-vascular assessment before pregnancy, and have a close follow-up during and after pregnancy.

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Background And Aim: Difficulties are encountered in embryology learning such as imagining embryo modifications in three-dimensions and time. We provided an experimentation to evaluate if short videos during magisterial lecture could increase the quality and the efficiency of embryology teaching.

Methods: The study was conducted amongst students in first year of medical studies in France.

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Many studies have examined the impact of cell/embryo culture media on the development of human embryo during IVF process, but few studies have followed up and compared the effects of these culture media on the developmental outcome of children conceived by IVF. As recurrent experimental evidence from animal studies suggests potential long-term effects of embryo culture media on the health outcome of IVF-conceived children, more studies are needed to clarify the role of the culture media and mechanisms underlying such effects. In human, however, the effects of culture media are difficult to pinpoint due to complications stem from both the influence of maternal nutrition during the gestational period and the parental genetic.

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The original version of this Article contained an error in the title, which was incorrectly given as 'APRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients'. This has now been corrected in both the PDF and HTML versions of the Article to read 'A PRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients'.

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To date, epimutations reported in man have been somatic and erased in germlines. Here, we identify a cause of the autosomal recessive cblC class of inborn errors of vitamin B metabolism that we name "epi-cblC". The subjects are compound heterozygotes for a genetic mutation and for a promoter epimutation, detected in blood, fibroblasts, and sperm, at the MMACHC locus; 5-azacytidine restores the expression of MMACHC in fibroblasts.

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Hereditary hemochromatosis is a genetic disease that progresses silently. This disease is often diagnosed late when complications appear. Hypogonadotropic hypogonadism (HH) is one of the classical complications of hemochromatosis.

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Introduction: Primary ciliary dyskinesia (PCD) is a rare congenital disorder involving permanent ubiquitous structural and/or functional ciliary abnormalities.

Methods: A single-center retrospective study included 56 cases of PCD (respiratory form) out of a cohort of 280 patients with suspected PCD. The main features of history-taking and clinical examination were analyzed, to formulate a pragmatic diagnostic procedure, easy to implement in clinical practice.

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Article Synopsis
  • Two novel single-cell multiplex PCR tests were developed for diagnosing FraX in biopsied embryos, featuring five new highly heterozygous markers and ensuring a high diagnosis success rate of 96% for couples undergoing PGD.
  • In clinical applications, the new tests demonstrated effectiveness by analyzing 32 embryos during eight PGD cycles, resulting in the birth of three healthy babies, while also minimizing the risk of misdiagnosing or losing viable embryos.
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Objective: To determine the feasibility of fertility preservation in adolescent males with cancer.

Design: Large multicenter retrospective study of male patients ≤20 years from 23 centers of a national network of sperm banks over a 34-year period.

Setting: Sperm banks.

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Oocyte donation is a remarkably effective method of treatment even in difficult cases, which encourages couples. However the data in literature express an increased risk of complications in pregnancies particularly for older women. Maternal-fetal outcome is fortunately usually favorable.

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