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Este estudo teve como objetivo avaliar o dimorfismo sexual em uma coleção de mandíbulas portuguesas através de uma metodologia métrica digital, utilizando análise estatística descritiva, inferencial e multivariada para identificar quais parâmetros são mais dimórficos e quais são os melhores preditores de sexo. Trinta e três mandíbulas (14 mulheres e 19 homens) e pertences pessoais foram fotograficamente registrados com código e sexo. Os dados foram coletados por tomografia e as medidas foram feitas pelo software Simplant Pro. Foram registrados a largura máxima e mínima do ramo mandibular, altura condilar, altura do processo coronoide, altura da sínfise mandibular, ângulo mandibular, distâncias bimentual, biantegonial, bigonial e bicondilar e comprimento máximo mandibular. A análise estatística foi realizada utilizando IBM® SPSS. Os resultados mostraram diferenças estatisticamente significativas para os seguintes parâmetros: altura do processo coronoide, altura do côndilo, comprimento máximo da mandíbula e largura mínima do ramo mandibular. Na análise estatística multivariada foi possível identificar a altura do processo coronoide como melhor preditor de sexo com precisão em 72,2% dos casos. Isto permite uma diferenciação mais fácil entre mandíbulas femininas e masculinas com uma precisão de 64,3% e 78,9%, respectivamente. Foi possível concluir que a altura do processo coronoide é o parâmetro mais dimórfico e o melhor preditor de sexo na amostra.

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This study aimed to assess sex dimorphism in a collection of Portuguese mandibles through a digital metric methodology by using descriptive, inferential, and multivariate statistical analysis to identify which parameters are the most dimorphic and which are the best sex predictors. Thirty-three mandibles (14 females and 19 males) and personal belongings were photographically registered with code and sex. Data was collected using tomography, and measurements were made using the Simplant Pro software. The maximum and minimum width of the mandibular ramus, condylar height, coronoid process height, mandibular symphysis height, mandibular angle, bi-mental, bi-antegonial, bi-gonial and bi-condylar distances, and maximal mandibular length were registered. Statistical analysis was performed using IBM® SPSS. The results showed statistically significant differences for the following parameters: coronoid process height, condyle height, the maximum length of the mandible, and the minimum width of the mandibular ramus. In the multivariate statistical analysis, it was possible to identify the coronoid process height as the best sex predictor accurately in 72.2% of cases. This allows for easier differentiation between female and male mandibles with an accuracy of 64.3% and 78.9%, respectively. It was possible to conclude that the coronoid process height is the most dimorphic parameter and the best sex predictor in the sample.

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Voice production can be influenced by interindividual variations related to genetic, physiological, behavioral, and several environmental factors. Here we examined the effect of zygosity on speaking fundamental frequency (F0) statistical descriptors. Our aims were: (1) to determine whether the genetic similarity between monozygotic (MZ) and dizygotic (DZ) twins affects F0 characteristics, and (2) to quantify the contribution of genetic factors to these characteristics. The study involved 79 same-sex twin pairs of Brazilian Portuguese speakers, comprising 65 MZ and 14 DZ twins, aged 18 to 66 years (31.7 ± 11.6 years), with 21 male and 58 female pairs. Participants were recorded while uttering a greeting phrase and the Brazilian Portuguese version of the 'Happy Birthday to You' song. Speech segments were analyzed using Praat free software, and F0 measures were automatically extracted in both Hertz and semitone scales. Statistical descriptors, including centrality, dispersion, and extreme values of F0 were examined, and the ACE model (i.e., total genetic effects, A; shared environmental influences, C; and nonshared environmental influences, E) was employed to estimate the additive effect;ts of monozygosity. As anticipated, we observed a zygosity effect on several F0 parameters, with more similarity between MZ twins compared to DZ twins. We discuss the genetic influences on F0 parameters and the absence of a monozygosity effect in two of them. Additionally, we briefly address potential biases associated with the selected measurement scale for statistical modeling. Finally, we explore the influence of genetic factors on F0 patterns, as well as environmental, life history and linguistic factors, particularly concerning F0 variation in speech.

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Metformin is classified as a biguanide and is used in the treatment of type 2 diabetes. It is used worldwide and has been investigated in drug repositioning. The present study aims to investigate whether there is sexual dimorphism in the orofacial antinociceptive effect of metformin and the participation of TRP channels. Acute nociceptive behavior was induced by administering cinnamaldehyde or capsaicin to the upper lip. Nociceptive behavior was assessed through orofacial rubbing, and the effects of pre-treatment with metformin (125 or 250 mg/Kg) or vehicle (control) were tested on the behavior. Nociceptive behavior was also induced by formalin injected into the temporomandibular joint. The chronic pain model involved infraorbital nerve transection (IONX) was evaluated using Von Frey electronic filaments. Trpv1 gene expression was analyzed in the nerve ganglion. Docking experiments were performed. Metformin, but not the vehicle, produced antinociception (p < 0.0001) in all acute nociceptive behaviors in both sexes, and these effects were attenuated by the TRPV1 antagonist capsazepine and the TRPA1 antagonist HC-030031. In IONX with better (**p < 0.01, ****p < 0.0001 vs. control) results in females. TRPV1 gene expression was observed in the metformin treated group (*p < 0.05 vs. control). Docking experiments revealed that metformin may interact with TRPV1 and TRPA1 channels. Metformin promotes orofacial antinociception in both sexes in acute pain and is more effective in chronic pain in females than in males, through the modulation of TRPV1 and TRPA1 channels. These preclinical findings suggest a potential repositioning of metformin as an analgesic agent in acute and chronic orofacial pain states.

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Astroblepus species, commonly known as Andean climbing catfish, exhibit a unique challenge in species delimitation, leading to ongoing taxonomic debates. Here we report data on Astroblepus mindoensis, a vulnerable species endemic to Ecuador, obtained by an integrative approach that includes cytogenetic analysis, molecular identification of the specimens, and recording of morphological and morphometric characters useful for species diagnosis. Thus, this study aimed to associate the karyotype data of the specimens analyzed with morphological and molecular characters, improving and expanding the existing taxonomic information, thus contributing to the systematics of the species. Our morphology results, unlike Regan's original description, which is brief and ambiguous, provide a more detailed morphometric and meristic description. Molecular phylogenetic reconstruction and genetic distance based on a fragment of the cytochrome c oxidase subunit I (COI) showed that our samples constitute a well-supported and monophyletic clade within the A. grixalvii species complex. The cytogenetic analysis identified distinct chromosomal markers, including a single cluster of major ribosomal genes (on chromosome pair 3) and of minor ribosomal genes (on chromosome pair 12) with their localization differing from those reported in other Astroblepus species analyzed. Additionally, the presence of a heteromorphic chromosome pair in males suggests the presence of an XX/XY sex-determination system that has not been identified in other congeneric species. Further investigation is necessary to determine if these chromosomes are associated with the accumulation of repeated sequences, as typically occurs with sex chromosomes, and to assess their presence in other species of the genus.

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Given the global burden of COVID-19 among healthcare workers (HCWs), it is expected that they face an elevated risk of developing post-COVID-19 syndrome. The objectives of this study were to evaluate the prevalence of post-COVID-19 syndrome and associated risk factors in HCWs followed for a median time of 18 months by conducting a retrospective cohort study. All HCWs with confirmed COVID-19 during the period from January 2021 to December 2022 were included in the study. HCWs were regularly assessed after COVID-19 diagnosis, so post-COVID-19 syndrome data could be collected. During the study period, 463 HCWs were included in the study, 227 (49.0%) of which experienced post-COVID-19 syndrome. The most common persistent symptoms were fatigue (n = 147 [32.5%]), memory disorders (n = 98 [21.5%]), dyspnea (n = 73 [16.0%]), anxiety/depression (n = 69 [15.0%]), and cough (n = 43 [9.4%]). Female sex and obesity were statistically associated with the development of post-COVID-19 syndrome. A high prevalence of post-COVID-19 syndrome in HCWs was found. Female sex and obesity appear to be risk factors associated with a higher prevalence of post-COVID-19 syndrome. Special attention should be given to these patients with risk factors during follow-up in the COVID-19 recovery period.

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Gonadal sex determination (GSD) is a complex but poorly understood process in the early stages of embryonic development. This process determines whether the bipotential gonadal primordium (BGP) will differentiate into testes or ovaries through the activation of genetic factors related to Sertoli or Granulosa cells, respectively. The study of this developmental process remains challenging due to experimental limitations and the complexity of the underlying genetic interactions. Boolean Networks (BNs) are binary networks that simulate genetic behavior and are commonly used for modeling gene regulatory networks (GRNs) due to their simplicity when dealing with a high number of gene interactions. Reported BNs usually use a synchronous (parallel) update scheme, which means that all the nodes (representing genes) update their values simultaneously. However, the use of this update scheme has been criticized because it cannot represent biological systems that are highly regulated at a temporal scale. Asynchronous and block-sequential updating schemes appear as an alternative to tackle this issue. In the first case, the updating scheme follows a random behavior while, in the second case, the set of network nodes is partitioned into blocks such that the nodes within a block are updated simultaneously, and the blocks are considered in a specific order sequence. To assess the impact of different updating approaches in a GRN associated to GSD we first made a node reduction without losing the main dynamics of the original network which are related to the formation of testes and ovaries. Then, we tested the effect of perturbations given by the inactivation of genes on the network attractors, specifically the SRY and WNT4 genes, since the former is only present in the Y chromosome and the latter is of importance in early embryo development. We found that both genes were crucial, but WNT4 alone showed a higher percentage of attractors towards a phenotype than the SRY alone. Finally, we found that using asynchronous and block-sequential updating schemes, the attraction basins - i.e., the set of configurations that reach an attractor - remain with similar percentages to those of the original network, which supports the robustness of the model.

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OBJECTIVES: Steroid 5α-reductase type 2 deficiency (5α-RD2) is an autosomal recessive disorder caused by mutations in the SRD5A2 gene. This condition is characterized by reduced enzymatic activity of the 5α-reductase type 2 enzyme. Individuals with mutations in the SRD5A2 gene may exhibit various symptoms of under-masculinization in 46, XY individuals. We conducted a comprehensive analysis of the SRD5A2 gene in a patient with disorder of sex development (DSD). CASE PRESENTATION: We describe a patient with a homozygous Gly183Ser variant in the SRD5A2 gene. Their sibling also carries this variant in homozygosity, while both parents have it in a heterozygous state. The patient presents with predominantly female traits and was raised as a girl. Although the siblings exhibit distinct phenotypic characteristics, both have assumed a male gender identity. CONCLUSIONS: This study reveals different phenotypes for the two siblings, highlighting the complexity of establishing a genotype-phenotype correlation in the SRD5A2 gene. It is noteworthy that the Gly183Ser variant seems to be more prevalent among individuals of African descent, aligning with our patient's ethnic background.

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BACKGROUND: Transcatheter aortic valve implantation (TAVI) is a well-established treatment for symptomatic patients with aortic stenosis. Yet, the impact of sex differences and public vs. private procedural setting on TAVI outcomes remain uncertain. METHODS: The RIBAC-NT (Brazilian Registry for Evaluation of Transcatheter Aortic Valve Replacement Outcomes) dataset included 3194 TAVI patients from 2009 to 2021. This retrospective analysis explored disparities in baseline characteristics, procedural and in-hospital outcomes stratifying patients by sex and procedural setting. Temporal trends were also investigated. RESULTS: We included 1551 (49 %) female and 1643 (51 %) male patients. Women were older (83 [78-87] vs. 81 [75-85] years; p < 0.01) but had a lower prevalence of diabetes mellitus (30.2 % vs. 36.3 %, p < 0.01) and coronary artery disease (39.0 % vs. 52.2 %, p < 0.01). However, women had a 3-fold higher higher risk of life-threatening bleeding (6.1 % vs. 2.4 %, p < 0.01). Women presented higher procedural and in-hospital mortality rates (4.4 % vs. 2.5 % and 7.7 % vs. 4.5 %, all p < 0.01, respectively). Although public hospitals presented ~2-fold higher procedural mortality rate compared with private settings (5.0 % vs. 2.7 %, p < 0.01), after multivariable analysis procedural setting was not independently associated with in-hospital mortality. CONCLUSIONS: Women had higher procedural and in-hospital mortality rates after TAVI as compared with men, while facing higher life-threatening bleeding and adverse events rates. Although public hospitals exhibited higher mortality rates than private centers, procedural setting was not independently associated with in-hospital mortality.

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BACKGROUND: Cardiovascular health (CVH) in young adulthood is associated with CVD in later life, yet CVH in young adults in the United States falls below ideal levels, with noticeable sex differences. Research on CVH in young adults in Puerto Rico is scarce. This study examined CVH and sex differences in CVH in a large cohort of young adults in Puerto Rico. METHODS AND RESULTS: Data from 2162 Puerto Rican young adults aged 18 to 29 residing in PR were obtained from the PR-OUTLOOK (Puerto Rico Young Adults' Stress, Contextual, Behavioral, and Cardiometabolic Risk) study (2020-2023). Participants were recruited through various media and community outreach. CVH scores, graded on a 0 (worst) to 100 (best) scale, were derived from survey responses, physical exams, and laboratory assays. Linear regression with the margins postestimation command was used to determine adjusted means (95% CIs) for CVH scores by sex, controlling for age, marital status, education, childhood material deprivation, subjective social status, health insurance, and depressive symptoms. CVH was less than ideal (score<80) in 72.6% of the cohort (70.5% of women, 75.9% of men, P<0.05). Men had a significantly lower adjusted mean overall CVH score than women (70.7 versus 73.0) and lower adjusted mean scores for nicotine exposure (78.3 versus 86.7), non-high-density lipoprotein cholesterol (80.6 versus 86.4), and blood pressure (79.5 versus 92.2). Women had a significantly lower adjusted mean physical activity score compared with men (50.4 versus 59.5). CONCLUSIONS: Less-than-ideal CVH is notable among young adults, with men having worse CVH than women. These identified sex differences warrant further investigation and the design of interventions to enhance and preserve CVH.

Assuntos

Doenças Cardiovasculares , Humanos , Feminino , Masculino , Porto Rico/epidemiologia , Adulto , Adulto Jovem , Doenças Cardiovasculares/epidemiologia , Adolescente , Fatores Sexuais , Nível de Saúde , Medição de Risco , Fatores de Risco , Fatores de Risco de Doenças Cardíacas , Fatores Etários

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Abstract Objective Child sexual violence is a multidimensional problem of many contemporary societies, affecting people of all sexes, social stratum and age groups. Offenses involving children and adolescents are more serious, given their total or partial dependence on parents and caregivers. Information on child sexual violence in Brazil is found in raw form and without detail. The objective was to compare the information with social and economic data in the state of Paraná. Methods The authors conducted a retrospective study of secondary data from the Notifiable Diseases Information System (SINAN) on cases of sexual violence involving victims aged 0 to 19 years. Results are presented according to notification characteristics. The authors applied exploratory spatial data analysis to assess spatial autocorrelations and investigated relationships by the ordinary least squares regression model. Results Between 2017 and 2021, there were 13,403 reports of child sexual violence in Paraná State, Brazil. Most victims (82.8%) were female and aged between 10 and 14 years. The majority of sexual violence cases (67.8%) occurred in the home environment. The highest rates on a population basis were observed in the North Central and Greater Curitiba regions, mainly in cities with higher population density and with higher rates of other types of violence. Conclusion The results provide data that can promote a broader understanding of the distribution of sexual violence and the state and associated variations. It is expected to improve the provision of care for victims of child sexual violence and assist in strategic planning to prevent future offenses.

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Background: There has been an increase in certain cancers among young adults (YA) aged 20-39, particularly in Latin America. This is the first study to examine cancer incidence and mortality in YA in Costa Rica, focusing on sex-specific patterns. Methods: Invasive cancer cases (excluding non-melanoma skin cancer) in YA from 2006 to 2015 were obtained from the Costa Rican National Registry of Tumors. Utilising SEER∗Stat software, age-standardized incidence rates (IRs) and incidence rate ratios (IRRs) were calculated. Trends and annual percent changes (APCs) in IRs were estimated using the Joinpoint regression analysis program. Cancer deaths from 2000 to 2021 were obtained from the Costa Rican National Institute of Statistics and Census. Age-standardised mortality rates were calculated using STATA®17. Findings: YA comprised 10.7% of all invasive cancer cases diagnosed from 2006 to 2015. The age-standardized incidence rate (ASIR) of invasive cancer in YA was 50.9/100,000 person-years. The ASIR was twofold higher for females compared to males (IRR = 2.03, 95% CI:1.94, 2.13). This difference increased with age, peaking in the 35-39-year age group (IRR = 2.84, 95% CI:2.62, 3.10). Thyroid, breast, and cervical cancer were the most common in females. Testicular cancer was the most common in males. Leading causes of cancer-related deaths included cervical and breast cancer in females and stomach and brain/nervous system cancer in males. Interpretation: The study highlights sex-specific patterns in cancer incidence and mortality among YA in Costa Rica to increase understanding and improve cancer outcomes in this age group. Funding: This study was funded by the Intramural Research Program of the National Cancer Institute.

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Objectives: To investigate sexual practices and HIV risk perception among MSM, identifying associated risk factors and determinants. Methods: A cross-sectional epidemiological study was conducted with 144 MSM in Teresina, Piauí, Brazil, using the snowball sampling technique. Participants were recruited via snowball sampling and underwent rapid HIV testing, in addition to completing questionnaires on sexual practices, risk perception, and illicit drug use. Results: The majority of participants showed an unsatisfactory perception of HIV risk. Factors associated with this perception include non-penetrative sex as an HIV preventive measure, which increased the chances of having an unsatisfactory risk perception by 1.45 times (P = .04), engaging with known HIV-positive individuals without knowledge of their viral load (ORa = 2.70; P = .043), and using illicit drugs before/during sex (ORa = 0.29; P = .048). Conclusions: The results indicate a high prevalence of risky sexual practices and an unsatisfactory HIV risk perception among the MSM studied.

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HIV Risk and Sexual Practices Among Men Who Have Sex with Men in BrazilThis study examines sexual practices and perceptions of HIV risk among men who have sex with men (MSM) in Teresina, Brazil. MSM are significantly more likely to contract HIV compared to the general population, with various factors influencing their risk. Despite this high vulnerability, many MSM do not perceive themselves to be at significant risk of HIV infection. Researchers surveyed 144 MSM to understand their sexual behaviors and how they perceive the risk of HIV. The study found that many MSM engage in risky sexual practices, such as not using condoms during oral sex, even though most use them during anal sex. Additionally, the study revealed that MSM often has a false sense of security when having sex with steady partners compared to casual partners. Key factors associated with a poor perception of HIV risk included low family income, engaging in non-penetrative sex as a preventive measure, having sexual relations with known HIV-positive individuals without knowing their viral load, and using illicit drugs during sexual activity. For instance, using illicit drugs, known as "chemsex," significantly increases risky behaviors, leading to a higher chance of HIV transmission. The study emphasizes the need for targeted health education and interventions for MSM. It suggests promoting regular condom use, better understanding of HIV transmission risks, and discouraging the use of drugs that impair judgment during sexual activities. Effective public health initiatives should be culturally sensitive and accessible to MSM of all income levels. By addressing these issues, health programs can better support MSM, reduce HIV transmission rates, and improve overall well-being.

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Infecções por HIV , Conhecimentos, Atitudes e Prática em Saúde , Homossexualidade Masculina , Assunção de Riscos , Comportamento Sexual , Humanos , Masculino , Brasil/epidemiologia , Infecções por HIV/epidemiologia , Infecções por HIV/psicologia , Adulto , Estudos Transversais , Homossexualidade Masculina/estatística & dados numéricos , Homossexualidade Masculina/psicologia , Comportamento Sexual/estatística & dados numéricos , Adulto Jovem , Fatores de Risco , Inquéritos e Questionários , Pessoa de Meia-Idade , Adolescente , Percepção , Sexo sem Proteção/estatística & dados numéricos , Sexo sem Proteção/psicologia

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Do all birds' sex chromosomes follow the same canonical one-way direction of evolution? We combined cytogenetic and genomic approaches to analyze the process of the W chromosomal differentiation in two selected Passeriform species, named the Pale-breasted Thrush Turdus leucomelas and the Rufous-bellied thrush T. rufiventris. We characterized the full catalog of satellite DNAs (satellitome) of T. leucomelas, and the 10 TleSatDNA classes obtained together with 16 microsatellite motifs were in situ mapped in both species. Additionally, using Comparative Genomic Hybridization (CGH) assays, we investigated their intragenomic variations. The W chromosomes of both species did not accumulate higher amounts of both heterochromatin and repetitive sequences. However, while T. leucomelas showed a heterochromatin-poor W chromosome with a very complex evolutionary history, T. rufiventris showed a small and partially heterochromatic W chromosome that represents a differentiated version of its original autosomal complement (Z chromosome). The combined approach of CGH and sequential satDNA mapping suggest the occurrence of a former W-autosomal translocation event in T. leucomelas, which had an impact on the W chromosome in terms of sequence gains and losses. At the same time, an autosome, which is present in both males and females in a polymorphic state, lost sequences and integrated previously W-specific ones. This putative W-autosomal translocation, however, did not result in the emergence of a multiple-sex chromosome system. Instead, the generation of a neo-W chromosome suggests an unexpected evolutionary trajectory that deviates from the standard canonical model of sex chromosome evolution.

Assuntos

DNA Satélite , Evolução Molecular , Heterocromatina , Cromossomos Sexuais , Animais , DNA Satélite/genética , Cromossomos Sexuais/genética , Feminino , Masculino , Heterocromatina/genética , Hibridização Genômica Comparativa , Repetições de Microssatélites/genética , Passeriformes/genética , Hibridização in Situ Fluorescente

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Introduction: Pelvis, long bones, and skull are good indicators of sexual dimorphism. In the skull, the supraorbital region is considered a highly sexually dimorphic part. Thus, the present study aimed to analyze the sexual dimorphism of Brazilian adult dry skulls using conventional and geometric morphometry. Materials and Methods: Conventional morphometry was performed on 179 skulls, through the analysis of six linear measurements. For geometric morphometry, 89 skulls (right side) were selected and seven landmarks were considered. Generalized procrustes analysis, principal component analysis, and linear discriminant analysis were then carried out. Results: All linear measurements presented differences between both sexes. Geometric morphometry showed that 77.05% of the sample variation could be explained by the first three principal components. Moreover, considering the centroid size, there was a difference in shape between the sexes. Geometric morphometry classified sex correctly in 77.32% of the skulls and conventional morphometry from 60.89% to 73.74%. Conclusions: According to the analyses, the supraorbital region presents significant sexual dimorphism in Brazilian adult dry skulls. Moreover, it can be analyzed efficiently by both conventional and geometric morphometry, although the latter seems to be slightly more accurate.

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Sex hormones play a pivotal role as endocrine hormones that exert profound effects on the biological characteristics and vascular function of vascular smooth muscle cells (VSMCs). By modulating intracellular signaling pathways, activating nuclear receptors, and regulating gene expression, sex hormones intricately influence the morphology, function, and physiological state of VSMCs, thereby impacting the biological properties of vascular contraction, relaxation, and growth. Increasing evidence suggests that abnormal phenotypic changes in VSMCs contribute to the initiation of vascular diseases, including atherosclerosis. Therefore, understanding the factors governing phenotypic alterations in VSMCs and elucidating the underlying mechanisms can provide crucial insights for refining interventions targeted at vascular diseases. Additionally, the varying levels of different types of sex hormones in the human body, influenced by sex and age, may also affect the phenotypic conversion of VSMCs. This review aims to explore the influence of sex hormones on the phenotypic switching of VSMCs and the development of associated vascular diseases in the human body.

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Hormônios Esteroides Gonadais , Músculo Liso Vascular , Miócitos de Músculo Liso , Humanos , Hormônios Esteroides Gonadais/fisiologia , Hormônios Esteroides Gonadais/farmacologia , Miócitos de Músculo Liso/fisiologia , Miócitos de Músculo Liso/efeitos dos fármacos , Miócitos de Músculo Liso/metabolismo , Animais , Fenótipo , Transdução de Sinais/fisiologia

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Multiple sex chromosomes usually arise from chromosomal rearrangements which involve ancestral sex chromosomes. There is a fundamental condition to be met for their long-term fixation: the meiosis must function, leading to the stability of the emerged system, mainly concerning the segregation of the sex multivalent. Here, we sought to analyze the degree of differentiation and meiotic pairing properties in the selected fish multiple sex chromosome system present in the wolf-fish Hoplias malabaricus (HMA). This species complex encompasses seven known karyotype forms (karyomorphs) where the karyomorph C (HMA-C) exhibits a nascent XY sex chromosomes from which the multiple X1X2Y system evolved in karyomorph HMA-D via a Y-autosome fusion. We combined genomic and cytogenetic approaches to analyze the satellite DNA (satDNA) content in the genome of HMA-D karyomorph and to investigate its potential contribution to X1X2Y sex chromosome differentiation. We revealed 56 satDNA monomers of which the majority was AT-rich and with repeat units longer than 100 bp. Seven out of 18 satDNA families chosen for chromosomal mapping by fluorescence in situ hybridization (FISH) formed detectable accumulation in at least one of the three sex chromosomes (X1, X2 and neo-Y). Nine satDNA monomers showed only two hybridization signals limited to HMA-D autosomes, and the two remaining ones provided no visible FISH signals. Out of seven satDNAs located on the HMA-D sex chromosomes, five mapped also to XY chromosomes of HMA-C. We showed that after the autosome-Y fusion event, the neo-Y chromosome has not substantially accumulated or eliminated satDNA sequences except for minor changes in the centromere-proximal region. Finally, based on the obtained FISHpatterns, we speculate on the possible contribution of satDNA to sex trivalent pairing and segregation.

Assuntos

Caraciformes , DNA Satélite , Hibridização in Situ Fluorescente , Cromossomos Sexuais , Animais , DNA Satélite/genética , Cromossomos Sexuais/genética , Masculino , Caraciformes/genética , Feminino , Evolução Molecular , Meiose/genética , Cariótipo , Cromossomo Y/genética

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Differences of sex development (DSDs) are a heterogeneous group of congenital conditions in which chromosomal, gonadal, or anatomical sex does not match. The broad spectrum of phenotypes associated with DSDs requires accurate diagnosis, which influences the care and quality of life of affected patients. The decreasing costs of next-generation sequencing (NGS) and international research collaborations in rare diseases have allowed the identification of new genes associated with DSDs. Recently, Hughes et al. in 2020 reported the association of loss-of-function (LoF) variants in PPP1R12A with morphological anomalies of the midline, including holoprosencephaly and urogenital malformations, also known as genitourinary and/or brain malformation syndrome (OMIM #618820). In this report, we describe a Mexican individual with hypertelorism, multiple skin hemangiomas, testicular atrophy, and sex reversal, in whom a c.1880delC frameshift variant in PPP1R12A was detected by exome sequencing. Segregation analysis confirmed it as a de novo variant through Sanger sequencing. The main objective of this report is to expand PPP1R12A-related urogenital and/or brain malformation syndrome.

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BACKGROUND: Maternal psychological distress during pregnancy can negatively impact fetal development, resulting in long-lasting consequences for the offspring. These effects show a sex bias. The mechanisms whereby prenatal stress induces functional and/or structural changes in the placental-fetal unit remain poorly understood. Maternal circulating small extracellular vesicles (sEVs) are good candidates to act as "stress signals" in mother-to-fetus communication. Using a repetitive restraint-based rat model of prenatal stress, we examined circulating maternal sEVs under stress conditions and tested whether they could target placental-fetal tissues. RESULTS: Our mild chronic maternal stress during pregnancy paradigm induced anhedonic-like behavior in pregnant dams and led to intrauterine growth restriction (IUGR), particularly in male fetuses and placentas. The concentration and cargo of maternal circulating sEVs changed under stress conditions. Specifically, there was a significant reduction in neuron-enriched proteins and a significant increase in astrocyte-enriched proteins in blood-borne sEVs from stressed dams. To study the effect of repetitive restraint stress on the biodistribution of maternal circulating sEVs in the fetoplacental unit, sEVs from pregnant dams exposed to stress or control protocol were labeled with DiR fluorescent die and injected into pregnant females previously exposed to control or stress protocol. Remarkably, maternal circulating sEVs target placental/fetal tissues and, under stress conditions, fetal tissues are more receptive to sEVs. CONCLUSION: Our results suggest that maternal circulating sEVs can act as novel mediators/modulators of mother-to-fetus stress communication. Further studies are needed to identify placental/fetal cellular targets of maternal sEVs and characterize their contribution to stress-induced sex-specific placental and fetal changes.

Assuntos

Vesículas Extracelulares , Placenta , Estresse Psicológico , Animais , Feminino , Gravidez , Vesículas Extracelulares/metabolismo , Vesículas Extracelulares/fisiologia , Placenta/metabolismo , Masculino , Feto , Ratos , Retardo do Crescimento Fetal/metabolismo , Ratos Sprague-Dawley , Modelos Animais de Doenças , Troca Materno-Fetal/fisiologia

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BACKGROUND: Few studies have been undertaken to detect the presence of cardiovascular risk factors (CRFs) in healthy populations (individuals auto-reported as healthy). These risk factors include high body mass index (BMI), high waist-to-hip ratio (WHR), high systolic and diastolic blood pressure (SBP, DBP), high uric acid and high Castelli's risk index (CRI); this last is the ratio of total cholesterol to HDL cholesterol (TC/HDL-c). In addition, the correlations between CRFs and the biomarker C-reactive protein (CRP) has not been explored in each sex. AIM: Therefore, this study aimed to determine sex differences in the abnormalities in blood and urine analyses, including CRFs and their correlation with CPR in a non-representative sample of healthy Mexican individuals. RESULTS: A total of 238 subjects were included, 123 (51.7%) of whom were women. The main blood alterations detected were high serum lipids, including high total cholesterol, LDL-cholesterol, triglycerides, and the CRI, which were higher in men than in women. The men's samples had a higher frequency of hypertensives and pre-hypertensives than the women's sample. The CRP showed positive significant correlations with the CRFs: BMI, WHR, SBP, DBP, uric acid, and the CRI, with a higher correlation for BMI and WHR, and most of these correlations were higher in women than in men. Additionally, all these factors showed a positive correlation among them. CONCLUSION: In conclusion, the main alterations observed in blood are related to cardiovascular risk and were reported with a higher frequency in men when compared with women. This finding can be related to the higher values of WHR in this sex; additionally, the inflammatory marker CRP was more correlated with the cardiometabolic risk factors in women than in men, which suggests a different relationship between inflammation and cardiometabolic risk factors in each sex.

RESUMO

BACKGROUND: Groin hernia repair (GHR) is a performed procedure worldwide, with approximately 20 million surgeries carried out each year. Despite being less common in females, there is a lack of research on how sex influences the outcomes of GHR. This systematic review and meta-analysis aim to assess how patient sex impacts results in GHR. METHODS: We performed a systematic review and meta-analysis according to Preferred Reporting Items for Systematic Review and Meta-Analyses guidelines. We searched for studies up to October 2023 in MEDLINE, EMBASE, and the Cochrane Central Register of Controlled Trials. The studies included focused on sex outcomes for both robotic and open GHR procedures. Data extraction and quality assessment were conducted using the Risk of Bias in Non-Randomized Studies - Of Interventions tool. Our statistical analysis was performed using the metafor package in RStudio. RESULTS: After screening a total of 3917 articles, we identified 29 studies that met our criteria, comprising a total of 1,236,694 patients. Among them, 98,641 (7.98%) patients were females. Our findings showed that females had higher rates of hernia recurrence (RR 1.28), chronic pain (RR 1.52), and surgical site infections (SSIs) (RR 1.46) compared to males. Females showed a lower tendency to undergo minimally invasive surgery (MIS) with a relative risk of 0.82 (95% CI 0.69-0.97; p = 0.02). CONCLUSION: Females tend to face higher rates of complications after GHR such as an elevated risk of chronic pain, recurrence, and surgical site infections (SSI). Moreover, they undergo fewer MIS options compared to males. These results underscore the importance of research to enhance outcomes for women undergoing GHR.