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Cell Death & Disease Jun 2024Klinefelter syndrome (47,XXY) causes infertility with a testicular histology comprising two types of Sertoli cell-only tubules, representing mature and immature-like...
Klinefelter syndrome (47,XXY) causes infertility with a testicular histology comprising two types of Sertoli cell-only tubules, representing mature and immature-like Sertoli cells, and occasionally focal spermatogenesis. Here, we show that the immature-like Sertoli cells highly expressed XIST and had two X-chromosomes, while the mature Sertoli cells lacked XIST expression and had only one X-chromosome. Sertoli cells supporting focal spermatogenesis also lacked XIST expression and the additional X-chromosome, while the spermatogonia expressed XIST despite having only one X-chromosome. XIST was expressed in Sertoli cells until puberty, where a gradual loss was observed. Our results suggest that a micro-mosaic loss of the additional X-chromosome is needed for Sertoli cells to mature and to allow focal spermatogenesis.
Topics: Klinefelter Syndrome; Male; Sertoli Cells; Spermatogenesis; Animals; Humans; Mice; RNA, Long Noncoding; Chromosomes, Human, X; X Chromosome
PubMed: 38839795
DOI: 10.1038/s41419-024-06792-6 -
CoDAS 2024To validate the content of the Speech-Language Pathology Concordance Test called FonoTCS.
PURPOSE
To validate the content of the Speech-Language Pathology Concordance Test called FonoTCS.
METHODS
This is a content validation study of the instrument. Five speech-language pathologists, all with doctoral degrees and teaching experience, averaging 24.8 years of professional practice, participated in the development of FonoTCS and reached a consensus during the process. Thirty questions and 120 items were created, covering seven areas of speech-language pathology expertise across three domains. For content validation, FonoTCS was electronically sent to 15 evaluators to respond to a questionnaire with five questions, rated on a five-point scale, regarding the criteria of clarity, ethics, and relevance of the questions. The Corrected Content Validity Coefficient was calculated for all statements to analyze the responses. Questions with agreement percentages equal to or less than 80% were revised.
RESULTS
Thirteen evaluators, all female, with an average age of 39.07 years, including eight with master's degrees and five with doctoral degrees, and an average clinical practice experience of 15.38 years, participated in the analysis. The average Corrected Content Validity Coefficient values for the clarity criterion were 0.93 and 0.95, for the relevance criterion 0.98 and 0.92, and for the ethics criterion 0.99. Two questions received scores of 0.78 and 0.80, both related to the audiology area in the assessment/diagnosis domain, specifically question 2 regarding the relevance criterion. These questions were reviewed and restructured by the judges.
CONCLUSION
FonoTCS is a valid instrument from a content perspective.
Topics: Humans; Speech-Language Pathology; Female; Surveys and Questionnaires; Reproducibility of Results; Adult; Clinical Reasoning; Clinical Competence
PubMed: 38836832
DOI: 10.1590/2317-1782/20242023276pt -
CoDAS 2024To propose an instrument for assessing speech recognition in the presence of competing noise. To define its application strategy for use in clinical practice. To obtain...
PURPOSE
To propose an instrument for assessing speech recognition in the presence of competing noise. To define its application strategy for use in clinical practice. To obtain evidence of criterion validity and present reference values.
METHODS
The study was conducted in three stages: Organization of the material comprising the Word-with-Noise Test (Stage 1); Definition of the instrument's application strategy (Stage 2); Investigation of criterion validity and definition of reference values for the test (Stage 3) through the evaluation of 50 normal-hearing adult subjects and 12 subjects with hearing loss.
RESULTS
The Word-with-Noise Test consists of lists of monosyllabic and disyllabic words and speech spectrum noise (Stage 1). The application strategy for the test was defined as the determination of the Speech Recognition Threshold with a fixed noise level at 55 dBHL (Stage 2). Regarding criterion validity, the instrument demonstrated adequate ability to distinguish between normal-hearing subjects and subjects with hearing loss (Stage 3). Reference values for the test were established as cut-off points expressed in terms of signal-to-noise ratio: 1.47 dB for the monosyllabic stimulus and -2.02 dB for the disyllabic stimulus. Conclusion: The Word-with-Noise Test proved to be quick to administer and interpret, making it a useful tool in audiological clinical practice. Furthermore, it showed satisfactory evidence of criterion validity, with established reference values.
Topics: Humans; Reference Values; Adult; Female; Male; Noise; Young Adult; Reproducibility of Results; Middle Aged; Speech Perception; Signal-To-Noise Ratio; Auditory Threshold; Case-Control Studies; Hearing Loss; Speech Reception Threshold Test; Aged; Adolescent
PubMed: 38836822
DOI: 10.1590/2317-1782/20242023091pt -
Brazilian Journal of Biology = Revista... 2024The elemental status of cattle is one of the important factors, which determine its growth, fertility, fetal development, meat and dairy production, etc. Therefore, the...
The elemental status of cattle is one of the important factors, which determine its growth, fertility, fetal development, meat and dairy production, etc. Therefore, the study of content of different elements in cattle organs and tissues and its correlation with cattle characteristics and diet is urgent task. It is also important to develop intravital and low-invasive methods to analyze element content in cattle to regulate its diet during lifetime. In the present work, we have studied the content and distribution of manganese in Hereford cattle from an ecologically clean zone of Western Siberia (Russia). 252 samples were taken from 31 bulls aged 15-18 months. They were collected from various livestock farms in the region and analyzed using atomic absorption spectrophotometry (organs and muscle tissue) and inductively coupled plasma atomic emission spectrometry (hair). The median values of manganese concentration obtained in natural moisture for hair, heart, kidneys, liver, lungs, muscles, spleen, testes, and brain were 25, 0.37, 1.0, 2.6, 0.4, 0.2, 0.4, 0.5, and 0.5 ppm. Accordingly, the concentration of manganese differs significantly in the organs and tissues of animals (H = 188.6, df = 8, p <0.0001). Statistically significant associations of manganese were revealed in pairs: liver-testis, hair-testis, spleen-testis, and heart-brain. The classification of organs and tissues of animals according to the level of content and variability of manganese is carried out. The concentration of manganese in the body is not uniform, most of all it is deposited in the hair and excretory organs of the liver and kidneys. In other organs and muscle tissues, the distribution of manganese is more even and is in the range of 0.2-0.5 ppm. The resulting ranges can be used as a guideline for Hereford cattle bred in Western Siberia.
Topics: Animals; Manganese; Cattle; Male; Spectrophotometry, Atomic; Siberia; Hair; Tissue Distribution
PubMed: 38836803
DOI: 10.1590/1519-6984.282174 -
Frontiers in Cell and Developmental... 2024Since the advent of gene-targeting technology in embryonic stem cells, mice have become a primary model organism for investigating human gene function due to the...
Since the advent of gene-targeting technology in embryonic stem cells, mice have become a primary model organism for investigating human gene function due to the striking genomic similarities between the two species. With the introduction of the CRISPR/Cas9 system for genome editing in mice, the pace of loss-of-function analysis has accelerated significantly. This has led to the identification of numerous genes that play crucial roles in male reproductive processes, including meiosis, chromatin condensation, flagellum formation in the testis, sperm maturation in the epididymis, and fertilization in the oviduct. Despite the advancements, the functions of many genes, particularly those enriched in male reproductive tissues, remain largely unknown. In our study, we focused on 15 genes and generated 13 gene-deficient mice [, triple (, , and ), , , , , , , , , , , and ] to elucidate their roles in male fertility. Surprisingly, all 13 gene-deficient mice exhibited normal fertility in natural breeding experiments, indicating that these genes are not essential for male fertility. These findings have important implications as they may help prevent other research laboratories from duplicating efforts to generate knockout mice for genes that do not demonstrate an apparent phenotype related to male fertility. By shedding light on the dispensability of these genes, our study contributes to a more efficient allocation of research resources in the exploration of male reproductive biology.
PubMed: 38835510
DOI: 10.3389/fcell.2024.1411162 -
Scientific Data Jun 2024Obesity is accompanied by multiple known health risks and increased morbidity, and obese men display reduced reproductive health. However, the impact of obesity on the...
Obesity is accompanied by multiple known health risks and increased morbidity, and obese men display reduced reproductive health. However, the impact of obesity on the testes at the molecular levels remain inadequately explored. This is partially attributed to the lack of monitoring tools for tracking alterations within cell clusters in testes associated with obesity. Here, we utilized single-cell RNA sequencing to analyze over 70,000 cells from testes of obese and lean mice, and to study changes related to obesity in non-spermatogenic cells and spermatogenesis. The Testicular Library encompasses all non-spermatogenic cells and spermatogenic cells spanning from spermatogonia to spermatozoa, which will significantly aid in characterizing alterations in cellular niches and the testicular microenvironment during high-fat diet (HFD)-induced obesity. This comprehensive dataset is indispensable for studying how HFD disrupts cell-cell communication networks within the testis and impacts alterations in the testicular microenvironment that regulate spermatogenesis. Being the inaugural dataset of single-cell RNA-seq in the testes of diet-induced obese (DIO) mice, this holds the potential to offer innovative insights and directions in the realm of single-cell transcriptomics concerning male reproductive injury associated with HFD.
Topics: Animals; Male; Diet, High-Fat; Mice; Testis; Obesity; Single-Cell Analysis; Transcriptome; Spermatogenesis
PubMed: 38834587
DOI: 10.1038/s41597-024-03435-5 -
International Journal of Surgery Case... May 2024Polyorchidism, or supernumerary testis, is a rare urogenital congenital disorder. Because of its rarity, there is no approved standard treatment protocol for preserving...
INTRODUCTION AND IMPORTANCE
Polyorchidism, or supernumerary testis, is a rare urogenital congenital disorder. Because of its rarity, there is no approved standard treatment protocol for preserving or removing the extra testicle, yet orchiopexy is frequently performed as a preferred treatment in most medical facilities.
CASE PRESENTATION
We present a 23-year-old single male with a bilaterally empty scrotum. He was unaware of his condition and had not seen a doctor before being admitted to our surgical unit. During his younger sibling's circumcision by a local circumcisionist (a medical staff member, idealy a nurse, whose duty is to perform circumcision, preferably at home), he saw something different (his emptey scrotum) and came to us with his problem. Laboratory findings revealed severe oligospermia, and tumor markers (Alpha fetoprotein, beta-human chorionic gonadotropin, and lactate dehydrogenase) were negative for malignancy. The patient underwent bilateral herniorrhaphy and orchiopexy of all six testicles (three in each inguinal canal) and had an uneventful recovery.
CLINICAL DISCUSSION
As polyorchidism is not a common problem, its management remains a contentious issue due to the lack of evidence-based consensus. However, with the introduction of new imaging modalities and on-table frozen section biopsy, the decision to continue with orchiopexy or orchiectomy can be easily justified; however, conservative treatment is preferable in cases of no coexisting anomalies, particularly cryptorchidism.
CONCLUSION
Polyorchidism could run unnoticed for years, especially if there is no direct and consistent access to a medical facility. In cases where polyorchidism is detected accidentally by imaging or during surgical exploration, the treatment must be justified accordingly.
PubMed: 38833904
DOI: 10.1016/j.ijscr.2024.109837 -
Poultry Science May 2024In avian species, male fertility significantly impacts reproductive success. This study investigates the relationship between proctodeal gland size in male Japanese...
In avian species, male fertility significantly impacts reproductive success. This study investigates the relationship between proctodeal gland size in male Japanese quails and sperm function, as well as female fertility duration. Six hundred adult Japanese quails were selected and housed in individual cages. Males (n = 300) were divided into 6 groups (50/group) based on the size of their proctodeal glands. Females (n = 300) were randomly assigned to corresponding groups. After acclimatization, sperm kinematics and the frequency and weight of foam discharge were evaluated. Males were paired with females for 24 h, and eggs were collected for 20 d postcopulation. Eggs were incubated to assess fertility duration. Fresh eggs (n = 20/group/d) were used to assess sperm penetration into the perivitelline membrane on the 2nd, 9th, and 16th d postinsemination. Plasma testosterone levels and the testes' relative weight were determined. The results indicated a significant increase (p < 0.0001) in sperm concentration, total and progressive motility, and nearly all sperm kinematic parameters such as VSL, VCL, VAP, LIN, WOB, and STR values as the size of the proctodeal gland increased. Quails copulated with males having a small and average proctodeal gland area (<400 mm) laid fertile eggs for a shorter period and had significantly fewer sperm penetration holes than those mated with males having a larger proctodeal gland area (>400 mm). The proctodeal gland size was positively correlated with testicular weight, plasma testosterone concentrations, and sperm kinetic variables. The results indicate that the size of the proctodeal gland in males can be used to predict sperm function and the duration of fertility in Japanese quail.
PubMed: 38833741
DOI: 10.1016/j.psj.2024.103809 -
Diagnostic Pathology Jun 2024Primary testicular lymphoma (PTL) is relatively rare. The contralateral testis is a common site of PTL relapse; therefore, once complete remission is achieved, radiation...
BACKGROUND
Primary testicular lymphoma (PTL) is relatively rare. The contralateral testis is a common site of PTL relapse; therefore, once complete remission is achieved, radiation therapy (RT) is administered to the contralateral testis to prevent relapse.
CASE PRESENTATION
A 76-year-old man was diagnosed with PTL and received RT as described above. However, despite achieving and maintaining complete remission, a mass diagnosed as diffuse large B-cell lymphoma by tissue biopsy developed in the glans penis 6.5 years after prophylactic RT. We investigated whether the glans penile lymphoma was PTL relapse or a new malignancy by genomic analysis using next-generation sequencing of DNA extracted from two histopathological specimens.
CONCLUSIONS
We found the same variant allele fraction in four somatic genes (MYD88, IL7R, BLNK, and FLT3) at similar frequencies, indicating that the glans penile lymphoma had the same origin as the PTL. To the best of our knowledge, this is the first case report of PTL relapse in the glans penis.
Topics: Humans; Male; Aged; High-Throughput Nucleotide Sequencing; Testicular Neoplasms; Lymphoma, Large B-Cell, Diffuse; Penile Neoplasms; Neoplasm Recurrence, Local
PubMed: 38831436
DOI: 10.1186/s13000-024-01498-x