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1.
Int J Sports Med ; 2024 Jul 03.
Artículo en Inglés | MEDLINE | ID: mdl-38959953

RESUMEN

This study aimed to investigate the applicability of the Lactate Threshold (LT) to predict maximal oxygen uptake (˙VO2max) and demarcate the boundary between the moderate- to heavy-intensity domain (HRm-h) in old age in comparison to the most utilized methods. A cross-sectional validation study was conducted. Participants aged 61 to 77 performed a familiarization procedure, an incremental maximal exercise treadmill test (CPX) for ˙VO2max determination, the Six-minute Walk Test (6MWT), and a discontinuous incremental field test for LT determination. Lower (P<0.01) internal effort was required for LT testing (76±8%HRmax) compared to 6MWT (92±9%HRmax). The application of the 6MWT reference equations overestimated ˙VO2max by 10-23%. LTs better estimated the ˙VO2max (r ≈0.90, SEE: ≈3.0] compared to the 6MWT (r=0.68, SEE=5.5). HRm-h determined by the CPX differed (20%; P=0.001) from that obtained by LT. HRm-h stratification indicated participants fall into the very light to the vigorous intensity domains. LT testing is more submaximal than the 6MWT, and is a valuable tool to estimate the ˙VO2max in older male adults. Implementation of LT testing in physical activity programs might help improving the quality of aerobic exercise training in older men.

2.
Eur J Appl Physiol ; 2024 Jun 07.
Artículo en Inglés | MEDLINE | ID: mdl-38849689

RESUMEN

PURPOSE: To evaluate the agreement between the two Gas Exchange Thresholds (GETs = GET1 and GET2), identified by the conventional V-Slope method, and two Respiratory Frequency Thresholds (fRTs = fRT1 and fRT2) obtained from a novel, low-cost, and simple method of breakpoint determination. METHODS: Fifty middle-aged males (age: 50-58 years; V ˙ o2peak: 37.5 ± 8.6 mL·Kg-1·min-1), either healthy or with chronic illnesses, underwent an incremental cycle exercise test to determine maximal oxygen uptake ( V ˙ o2max/ V ˙ o2peak), GETs and fRTs. RESULTS: There were no statistical differences [P > 0.05; ES: 0.17 to 0.32, small] between absolute and relative (56-60% V ˙ o2peak) oxygen uptake ( V ˙ o2) values at GET1 with those obtained at fRT1, nor between V ˙ o2 values at GET2 with those at fRT2 (76-78% V ˙ o2peak). Heart rate (HR) at fRT1, and V ˙ o2 and HR at fRT2 showed very large correlations (r = 0.75-0.82; P < 0.001) and acceptable precision (SEE < 7-9%) in determination of their corresponding values at GET1 and GET2. The precision in the estimation of V ˙ o2 at GET1 from fRT1 was moderate (SEE = 15%), while those of power output at GET1 (SEE = 23%) and GET2 (SEE = 12%) from their corresponding fRTs values were very poor to moderate. CONCLUSION: HR at fRT1 and V ˙ o2 and HR at fRT2, determined using a new objective and portable approach, may potentially serve as viable predictors of their respective GETs. This method may offer a simplified, cost-effective, and field-based approach for determining exercise threshold intensities during graded exercise.

3.
J Biomech ; 172: 112202, 2024 Jun 19.
Artículo en Inglés | MEDLINE | ID: mdl-38945010

RESUMEN

Differences in running gait between treadmill and overground running has been subject of study, while consistency of group differences between running surfaces has not been previously analysed. This study examined both the differences between running surfaces and the consistency of sex-based differences between surfaces in some spatiotemporal and kinematic variables measured by an inertial measurement unit fastened over the lumbar spine. Thirty-two (sixteen females) endurance runners firstly performed overground and then treadmill (1 % inclination) runs at speeds between 9-21 km∙h-1. Males showed lower flight time (FT) [moderate effect size (ES)] during treadmill running compared to overground, while females showed greater stride frequency (SF) (moderate ES), lower stride length (SL) (moderate ES), FT (moderate ES), and vertical (VT) trunk displacement (moderate ES), as well as greater medio-lateral (ML) trunk displacement (moderate ES). No differences in CT between surfaces were found (trivial to small). Furthermore, all the sex-differences were consistent between treadmill and overground running: Males showed lower SF (large and moderate ES, respectively), greater SL (large and moderate ES) and CT (moderate and large ES), lower FT (large ES), greater VT displacement (moderate to large ES), and lower ML displacement (moderate ES) than females. These results may be of interest to carefully transfer the running gait analyses between surfaces depending on sex.

4.
Artículo en Inglés, Español | MEDLINE | ID: mdl-38754732

RESUMEN

INTRODUCTION AND OBJECTIVES: A Consensus document on the management of patients with neurogenic detrusor overactivity (NDO) was published in 2018. The present document aims to update its recommendations regarding treatment considering the new evidence available, and to contribute to the standardization of the management of this disorder. METHODS: The methodology used was based on a systematic review and the Nominal Group Technique. The clinical coordinator (CC) and the Consensus update group (CUG) defined the questions to be updated and carried out a systematic review to identify the new available evidence. After being evaluated by the expert panel, the relevant recommendations were updated and agreed in a consensus meeting. RESULTS: A total of 3210 publications were identified and 26 publications that met the inclusion criteria were included. The CUG updated 18 recommendations on the therapeutic approach to NDO. Unanimous consensus was reached on all of them. CONCLUSIONS: Previous recommendations need to be revised due to the availability of new drugs, the increasing evidence on the use of botulinum toxin or neuromodulation procedures, and new surgical options.

5.
Artículo en Inglés, Español | MEDLINE | ID: mdl-38740263

RESUMEN

The standard treatment for metastatic hormone-sensitive prostate cancer (mHSPC) is now a combination of androgen deprivation therapy plus an androgen receptor-targeted therapy (abiraterone, apalutamide, enzalutamide or darolutamide), with or without chemotherapy (docetaxel). The selection of suitable patients for each therapeutic approach has become a determining factor to ensure efficacy and minimize side effects. This article combines recent clinical evidence with the accumulated experience of experts in medical oncology, radiation oncology and urology, to provide a comprehensive view and therapeutic recommendations for mHSPC.

7.
Front Sports Act Living ; 6: 1357353, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38600906

RESUMEN

Introduction: Inertial measurement units (IMUs) are utilized to measure trunk acceleration variables related to both running performances and rehabilitation purposes. This study examined both the reliability and sex-based differences of these variables during an incremental treadmill running test. Methods: Eighteen endurance runners performed a test-retest on different days, and 30 runners (15 females) were recruited to analyze sex-based differences. Mediolateral (ML) and vertical (VT) trunk displacement and root mean square (RMS) accelerations were analyzed at 9, 15, and 21 km·h-1. Results: No significant differences were found between test-retests [effect size (ES)<0.50)]. Higher intraclass correlation coefficients (ICCs) were found in the trunk displacement (0.85-0.96) compared to the RMS-based variables (0.71-0.94). Male runners showed greater VT displacement (ES = 0.90-1.0), while female runners displayed greater ML displacement, RMS ML and anteroposterior (AP), and resultant euclidean scalar (RES) (ES = 0.83-1.9). Discussion: The IMU was found reliable for the analysis of the studied trunk acceleration-based variables. This is the first study that reports different results concerning acceleration (RMS) and trunk displacement variables for a same axis in the analysis of sex-based differences.

8.
Artículo en Inglés | MEDLINE | ID: mdl-38483166

RESUMEN

Silk fibroin (SF) microparticles were administered in the diet of gilthead seabream with or without experimental skin wounds to study the effects on cellular immunity and liver. A commercially available diet was enriched with varying amount of SF: 0, 50 and 100 mg kg-1 (representing the control, SF50 and SF100 diets respectively). The animals were fed for 30 days and half of them were sampled. Similar experimental wounds were then performed on the rest of fish, and they continued to be fed the same diet. At 7 days post-wounding, samples were taken from the wounded fish. Cellular immunity was studied on head kidney leucocytes (phagocytosis, respiratory and peroxidase content) and liver status (histological study and gene expression) were studied. Our results showed that experimental wounds affect both cellular immunity (by decreasing leucocyte respiratory burst and peroxidase activity) and altered liver histology (by inducing vascularisation and congestion of blood vessels). In addition, it influences the expression of genes that serve as markers of oxidative stress, endoplasmic reticulum stress and apoptosis. The highest dose of SF (SF100) increased the phagocytic capacity of leucocytes the most, as well as the expression of genes related to blood vessel formation in the liver. Furthermore, increased expression of antioxidant genes (cat and gsr) and decreased expression of genes related to reticulum endoplasmic stress (grp94 and grp170) and apoptosis (nos and jnk) were detected in these fish fed with SF100 and wounded. In conclusion, fed fish with SF100 had many beneficial effects as cellular immunostimulant and hepatoprotection in wounded fish. Its use could be of great interest for stress management in farmed fish conditions.

9.
Rev. chil. infectol ; 41(1)feb. 2024.
Artículo en Español | LILACS-Express | LILACS | ID: biblio-1559668

RESUMEN

Las enfermedades causadas por amebas de vida libre son infecciones oportunistas que pueden tener un curso fatal. Pueden producir afecciones diseminadas graves con compromiso del sistema nervioso central, como la encefalitis amebiana granulomatosa. Esta infección es cada vez más frecuente en América Latina, aunque se reconocen tardíamente debido a la similitud con otras patologías o porque es inusual incluirla en el diagnóstico diferencial. Comunicamos un caso fatal de una encefalitis amebiana granulomatosa por Balamuthia mandrillaris en una niña de 10 años. Destacamos la gravedad de la afectación cerebral y la falta de esquemas antimicrobianos validados para su tratamiento. Hoy en el mundo esta infección es considerada una enfermedad emergente, influenciada por el cambio climático, lo que llama a estar atentos a su presencia.


Diseases caused by free-living amoebae are opportunistic infections that can have a fatal course. They can cause very serious disseminated conditions with involvement of the central nervous system such as granulomatous amoebic encephalitis. This infection has become more common in Latin America, although its recognition is late due to the similarity with other pathological conditions or because it is unusual to include it in the differential diagnosis. We report a fatal case of granulomatous amoebic encephalitis due to Balamuthia mandrillaris in a 10-year-old girl. We highlight the severity of the brain involvement and the lack of validated schemes for its treatment. Today in the world this infection is considered an emerging disease, influenced by climate change, which calls for being attentive to its presence.

10.
Data Brief ; 53: 110186, 2024 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-38406253

RESUMEN

A dataset about three topics is provided, as a follow-up to the article "Mexico's forest diversity: common tree species and proposed forest-vegetation provinces" by Ricker et al. [1]. Firstly, 6927 site locations are provided for 22,532 trees of 1452 species. Secondly, measurements of basic wood-densities are reported for 779 tree species, obtained from 5256 trunk-core samples from Mexico's national forest inventory, and ranging from 0.05 to 0.93 g/cm3. Third, the data and maps of the forest-vegetation provinces from [1] were updated with the new cartography of Mexico's vegetation and land use (base year 2018). The maps are available now in an adjusted presentation as a shapefile-set for ArcGIS, as well as map-package and image files.

11.
Heliyon ; 10(1): e23494, 2024 Jan 15.
Artículo en Inglés | MEDLINE | ID: mdl-38205282

RESUMEN

STEAM (Science, Technology, Engineering, Arts and Mathematics) professions play a crucial role in transforming 21st-century society, as they contribute to developing new technologies that support the achievement of the Sustainable Development Goals (SDGs). Aligning engineering education with sustainable development requires raising awareness among students, fostering commitment among future generations of engineers, and promoting technical vocations. In this paper, an educational experience designed with these objectives is presented, in which more than 130 students from five undergraduate degrees in engineering and architecture at the Higher Polytechnic School of Zamora (HPSZ) of the University of Salamanca actively participated. To carry out the project, an online course was designed to train all participating students on general aspects of the 2030 Agenda, and research works were proposed in the ten involved degree subjects. The assessment of students' prior knowledge and learning regarding the 2030 Agenda was conducted through an objective multiple-choice pre-test and post-test. Additionally, their satisfaction with this educational experience was assessed through a questionnaire. The results revealed a considerable improvement in the students' knowledge of the general contents of sustainable development, especially after participating in classroom debate sessions. The initial objective test showed a low average score, indicating the lack of knowledge about the 2030 Agenda and the SDGs among engineering students. However, the final objective test revealed a significant improvement of 3 points out of 10. Regarding the research works, out of a total of 91 students, 53 papers addressing complex issues related to sustainable development and current engineering solutions were presented. This approach facilitated collaborative learning and the celebration of World Engineering Day at the HPSZ. The results of the satisfaction survey demonstrated that the experience was positive for both students and faculty Furthermore, its media impact was essential for increasing engineering vocations' visibility and social recognition.

13.
Hipertens Riesgo Vasc ; 41(1): 5-16, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-37517951

RESUMEN

BACKGROUND: Cardiovascular disease (CVD) is one of the principal causes of death in antineutrophil cytoplasmic antibody-(ANCA)-associated vasculitis (AAV). OBJECTIVES: To evaluate the mortality and it's causes and CVD and its vascular risk factors (VRFs) in AAV patients in Andalusia. METHODS: A multicenter cohort of 220 AAV patients followed-up from 1979 until June 2020 was studied in Andalussia, south of Spain. The information, including socio-demographic and clinical data was recorded retrospectively through chart review. Data was analysed using Chi2, ANOVA and Cox proportional hazards regresion as uni and multivariate test with a 95% confidence interval (CI). RESULTS: During a mean ± standard deviation follow-up of 96.79 ± 75.83 months, 51 patients died and 30 presented at least one CVE. Independent prognostic factors of mortality were age (HR 1.083, p=0.001) and baseline creatinine (HR 4.41, p=0.01). Independent prognostic factors of CVE were age [hazard ratio (HR) 1.042, p=0.005] and the presence of hypertension (HTN) six months after diagnosis (HR 4.641, p=0.01). HTN, diabetes and renal failure, all of these important VRFs, are more prevalent in AAV patients than it is described in matched general population. CONCLUSIONS: Age and baseline renal function, but not CVEs, are predictors of mortality and age and early HTN are independent predictors for having a CVE. CVD screening in AAV patients is demanded.


Asunto(s)
Vasculitis Asociada a Anticuerpos Citoplasmáticos Antineutrófilos , Enfermedades Cardiovasculares , Hipertensión , Humanos , Vasculitis Asociada a Anticuerpos Citoplasmáticos Antineutrófilos/complicaciones , Vasculitis Asociada a Anticuerpos Citoplasmáticos Antineutrófilos/diagnóstico , Vasculitis Asociada a Anticuerpos Citoplasmáticos Antineutrófilos/epidemiología , Anticuerpos Anticitoplasma de Neutrófilos , Enfermedades Cardiovasculares/epidemiología , Enfermedades Cardiovasculares/etiología , Factores de Riesgo de Enfermedad Cardiaca , Hipertensión/complicaciones , Hipertensión/epidemiología , Riñón , Estudios Retrospectivos , Factores de Riesgo , España/epidemiología
15.
Eur J Ophthalmol ; 34(2): 541-548, 2024 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-37671421

RESUMEN

PURPOSE: To study the incidence of macular edema (ME), ocular hypertension (OHT), emulsification and migration to the anterior chamber (AC) of silicone oil (SO) in patients after complex retina surgery, stratified by SO type. METHODS: Retrospective, cohort study. Patients who underwent retina surgery with SO injection and extraction in our center were included. We compared the complication rates of ME, OHT, emulsification and migration to the AS according to SO type (1300cSt, 5700cSt and heavy SO). Data on age, sex, emulsification time, duration of the tamponade, previous retina surgeries and diagnosis were also gathered and included in a multivariate analysis. RESULTS: We included 163 patients (mean age of 64.8 years; mean duration of the tamponade: 11 months). Rates of emulsification, ME, OHT and SO migration to the AC were similar in all groups (p = 0.998, 0.668, 0.915 and 0.360). ME was the most frequent complication (33.3-47.8%), which resolved after SO extraction in 77.6% of cases. The majority of cases with OHT persisted (61.7%). Emulsification was related to younger age (OR 0.94) and longer duration of the tamponade (OR 1.04). The odds of SO migration to the AC increased with emulsification (OR 2.78), recurrent retinal detachment (OR 0.99) and aphakia (OR 4.05). CONCLUSIONS: We propose SO extraction as the preferred treatment for ME during SO tamponade. SO extraction should be performed sooner in younger patients to avoid emulsification. In selected patients, we suggest a longer duration of the tamponade up to 11 months with a reasonable safety profile, regardless of the SO type.


Asunto(s)
Glaucoma , Edema Macular , Desprendimiento de Retina , Humanos , Persona de Mediana Edad , Estudios de Cohortes , Estudios Retrospectivos , Aceites de Silicona/efectos adversos , Vitrectomía/efectos adversos , Desprendimiento de Retina/epidemiología , Desprendimiento de Retina/cirugía , Desprendimiento de Retina/etiología , Edema Macular/epidemiología , Edema Macular/etiología , Glaucoma/cirugía
16.
Development ; 151(2)2024 Jan 15.
Artículo en Inglés | MEDLINE | ID: mdl-38112206

RESUMEN

Placental development involves coordinated expansion and differentiation of trophoblast cell lineages possessing specialized functions. Among the differentiated trophoblast cell lineages are invasive trophoblast cells, which exit the placenta and invade the uterus, where they restructure the uterine parenchyma and facilitate remodeling of uterine spiral arteries. The rat exhibits deep intrauterine trophoblast cell invasion, a feature shared with human placentation, and is also amenable to gene manipulation using genome-editing techniques. In this investigation, we generated a conditional rat model targeting the invasive trophoblast cell lineage. Prolactin family 7, subfamily b, member 1 (Prl7b1) is uniquely and abundantly expressed in the rat invasive trophoblast cell lineage. Disruption of Prl7b1 did not adversely affect placental development. We demonstrated that the Prl7b1 locus could be effectively used to drive the expression of Cre recombinase in invasive trophoblast cells. Our rat model represents a new tool for investigating candidate genes contributing to the regulation of invasive trophoblast cells and their roles in trophoblast-guided uterine spiral artery remodeling.


Asunto(s)
Placenta , Placentación , Embarazo , Ratas , Femenino , Animales , Humanos , Placenta/metabolismo , Placentación/genética , Trofoblastos , Útero , Linaje de la Célula/genética , Modelos Animales
17.
FASEB J ; 38(1): e23376, 2024 01.
Artículo en Inglés | MEDLINE | ID: mdl-38112167

RESUMEN

Male germ cell development is dependent on the orchestrated regulation of gene networks. TATA-box binding protein associated factors (TAFs) facilitate interactions of TATA-binding protein with the TATA element, which is known to coordinate gene transcription during organogenesis. TAF7 like (Taf7l) is situated on the X chromosome and has been implicated in testis development. We examined the biology of TAF7L in testis development using the rat. Taf7l was prominently expressed in preleptotene to leptotene spermatocytes. To study the impact of TAF7L on the testis we generated a global loss-of-function rat model using CRISPR/Cas9 genome editing. Exon 3 of the Taf7l gene was targeted. A founder was generated possessing a 110 bp deletion within the Taf7l locus, which resulted in a frameshift and the premature appearance of a stop codon. The mutation was effectively transmitted through the germline. Deficits in TAF7L did not adversely affect pregnancy or postnatal survival. However, the Taf7l disruption resulted in male infertility due to compromised testis development and failed sperm production. Mutant germ cells suffer meiotic arrest at late zygotene/early pachynema stages, with defects in sex body formation. This testis phenotype was more pronounced than previously described for the subfertile Taf7l null mouse. We conclude that TAF7L is essential for male germ cell development in the rat.


Asunto(s)
Semen , Espermatogénesis , Factores Asociados con la Proteína de Unión a TATA , Factor de Transcripción TFIID , Animales , Femenino , Masculino , Embarazo , Ratas , Diferenciación Celular , Meiosis , Semen/metabolismo , Espermatocitos/metabolismo , Espermatogénesis/fisiología , Espermatozoides/metabolismo , Factores Asociados con la Proteína de Unión a TATA/genética , Factores Asociados con la Proteína de Unión a TATA/metabolismo , Testículo/metabolismo , Factor de Transcripción TFIID/genética , Factor de Transcripción TFIID/metabolismo
18.
Chaos ; 33(12)2023 Dec 01.
Artículo en Inglés | MEDLINE | ID: mdl-38085231

RESUMEN

In the last few decades, there has been much interest in studying piecewise differential systems. This is mainly due to the fact that these differential systems allow us to modelize many natural phenomena. In order to describe the dynamics of a differential system, we need to control its periodic orbits and, especially, its limit cycles. In particular, providing an upper bound for the maximum number of limit cycles that such differential systems can exhibit would be desirable, that is solving the extended 16th Hilbert problem. In general, this is an unsolved problem. In this paper, we give an upper bound for the maximum number of limit cycles that a class of continuous piecewise differential systems formed by an arbitrary linear center and an arbitrary quadratic center separated by a non-regular line can exhibit. So for this class of continuous piecewise differential systems, we have solved the extended 16th Hilbert problem, and the upper bound found is seven. The question whether this upper bound is sharp remains open.

19.
Actas urol. esp ; 47(10): 668-674, Dic. 2023. tab, graf
Artículo en Inglés, Español | IBECS | ID: ibc-228318

RESUMEN

Objetivo El objetivo de este trabajo es conocer experiencia inicial con la terapia térmica con vapor de agua (TTVA) para hiperplasia benigna de próstata (HBP) en los hospitales universitarios españoles, así como describir las diferencias en cuanto a técnica y seguimiento observadas entre los centros. Materiales y métodos Este estudio multicéntrico observacional retrospectivo recogió características basales, datos quirúrgicos, posoperatorios y seguimiento a los uno, tres, seis, 12 y 24 meses, incluyendo cuestionarios validados, variaciones flujométricas, complicaciones y la necesidad de tratamiento farmacológico y quirúrgico tras el procedimiento. También se analizaron los posibles desencadenantes de retención aguda de orina (RAO) en el posoperatorio. Resultados Se incluyeron un total de 105 pacientes. No se observaron diferencias entre los grupos con y sin RAO con respecto a tiempo de sondaje (cinco y 4,3 días respectivamente, p = 0,178), ni volumen prostático (47,9 y 41,4 g, respectivamente, p = 0,147). La mejoría media a los tres, seis, 12 y 24 meses en cuanto de flujo máximo fue de 5,3, 5,2, 4,2 y 3,8 mL/s, respectivamente. En cuanto a la eyaculación, se observa una mejoría en la misma a partir de los tres meses de seguimiento que se mantiene en el tiempo. Conclusiones El tratamiento mínimamente invasivo de HBP con TTVA presenta buenos resultados funcionales a 24 meses de seguimiento, sin afectación significativa de la función sexual y con una baja incidencia de complicaciones. Existen pequeñas variaciones principalmente en cuanto al posoperatorio inmediato entre los hospitales participantes en el estudio. (AU)


Aim The aim of this work is to evaluate the initial experience with water vapor thermal therapy (WVTT) for benign prostatic hyperplasia (BPH) in Spanish university hospitals, as well as to describe the differences in technique and follow-up between centers. Materials and Methods This retrospective observational multicenter study collected baseline characteristics, surgical, postoperative and follow-up data at 1, 3, 6, 12 and 24 months, including validated questionnaires, flowmetric variations, complications, and the need for pharmacological or surgical treatment following the procedure. Possible triggers for postoperative acute urinary retention (AUR) were also analyzed. Results A total of 105 patients were included. No differences were observed between the groups with and without AUR with respect to catheterization time (5 and 4.3 days respectively, p = 0.178), or prostate volume (47.9 gr and 41.4 gr respectively, p = 0.147). The mean improvement at 3, 6, 12 and 24 months in terms of peak flow was 5.3, 5.2, 4.2 and 3.8 ml/s, respectively. As for ejaculation, an improvement was observed after 3 months of follow-up and was maintained over time. Conclusions Minimally invasive treatment for BPH with WVTT shows good functional outcomes at 24 months follow-up, without significant impairment of sexual function and a low incidence of complications. There are minor inter-hospital variations, mainly in the immediate postoperative period. (AU)


Asunto(s)
Humanos , Masculino , Femenino , Hiperplasia Prostática/rehabilitación , Hiperplasia Prostática/terapia , Estudios Multicéntricos como Asunto , Estudios Retrospectivos , Hiperplasia Prostática/tratamiento farmacológico , Hiperplasia Prostática/cirugía
20.
bioRxiv ; 2023 Oct 10.
Artículo en Inglés | MEDLINE | ID: mdl-37873461

RESUMEN

Male germ cell development is dependent on the orchestrated regulation of gene networks. TATA-box binding protein associated factors (TAFs) facilitate interactions of TATA-binding protein with the TATA element, which is known to coordinate gene transcription during organogenesis. TAF7 like (Taf7l) is situated on the X chromosome and has been implicated in testis development. We examined the biology of TAF7L in testis development using the rat. Taf7l was prominently expressed in preleptotene to leptotene spermatocytes. To study the impact of TAF7L on the testis we generated a global loss-of-function rat model using CRISPR/Cas9 genome editing. Exon 3 of the Taf7l gene was targeted. A founder was generated possessing a 110 bp deletion within the Taf7l locus, which resulted in a frameshift and the premature appearance of a stop codon. The mutation was effectively transmitted through the germline. Deficits in TAF7L did not adversely affect pregnancy or postnatal survival. However, the Taf7l disruption resulted in male infertility due to compromised testis development and failed sperm production. Mutant germ cells suffer meiotic arrest at the zygotene stage, with defects in sex body formation and meiotic sex chromosome inactivation. This testis phenotype was more pronounced than previously described for the subfertile Taf7l null mouse. We conclude that TAF7L is essential for male germ cell development in the rat.

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