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1.
Artigo em Inglês | MEDLINE | ID: mdl-39362818

RESUMO

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.

2.
Patient Educ Couns ; 130: 108470, 2024 Oct 09.
Artigo em Inglês | MEDLINE | ID: mdl-39405587

RESUMO

OBJECTIVE: Explore the caregiver experience of communicating about differences of sex development (DSD) with their children. Evidence-based guidance regarding how, when, and what information is shared by caregivers is lacking and is needed to inform optimal information sharing strategies for this population. METHODS: Qualitative semi-structured interviews were conducted with 15 caregivers of children with DSD, recruited from 3 multidisciplinary DSD clinics. Interviews were transcribed and coded using thematic analysis. RESULTS: Four major themes were generated: (1) communicate openly and honestly, (2) information sharing starts at a young age and occurs over time, (3) caregivers and providers should empower children with DSD by sharing positive messages to promote self-confidence and actively engaging them in their medical care, and (4) caregivers should understand and acknowledge the connection between gender identity and DSD to create a supportive environment for children experiencing gender dysphoria. CONCLUSION: Transparent and developmentally-appropriate information sharing by caregivers with their children is essential for educating, empowering, and supporting children with DSD. Communicating with children about DSD can be a complex process for caregivers, and healthcare providers have a key role in supporting caregiver-child communication and increasing access to education and support resources.

3.
Sci Rep ; 14(1): 24215, 2024 10 16.
Artigo em Inglês | MEDLINE | ID: mdl-39414930

RESUMO

Although abdominal aortic aneurysms (AAA) are more common in men, women are at greater risk for AAA growth/rupture. Vascular deformation mapping (VDM) utilizes deformable image registration to qualify and quantify 3D-AAA growth using computed tomography angiograms (CTA). In this study we leveraged VDM to investigate sex differences in AAA growth patterns. Patients with infra-renal AAA and ≥ 2 CTA were identified. Males and females were matched for age, hypertension, and smoking history. Patient characteristics, maximum diameter (Dmax), and AAA volume were obtained. CTA images were segmented, and VDM was conducted to quantify 3D AAA growth rate per year (GR, cm/year). Statistical shape modeling was utilized to compute mean aneurysm shapes and 3D GR. Average GR was evaluated at specific regions of the aortic surface for males and females. Seventeen males and 17 females were matched. At the individual level, there were no sex differences in changes in Dmax or AAA volume. However, females had larger GR across the anterior and right lateral AAA (1.33 vs 0.89 and 1.56 vs 0.74 cm/year, respectively), despite no difference in posterior or left lateral AAA GR. Despite comparable changes in Dmax, AAA volume, and GR magnitude, women demonstrated a more eccentric, anterior-predominant, AAA growth pattern.


Assuntos
Aneurisma da Aorta Abdominal , Angiografia por Tomografia Computadorizada , Imageamento Tridimensional , Humanos , Aneurisma da Aorta Abdominal/diagnóstico por imagem , Aneurisma da Aorta Abdominal/patologia , Aneurisma da Aorta Abdominal/fisiopatologia , Masculino , Feminino , Idoso , Angiografia por Tomografia Computadorizada/métodos , Progressão da Doença , Caracteres Sexuais , Pessoa de Meia-Idade , Fatores Sexuais , Aorta Abdominal/diagnóstico por imagem , Aorta Abdominal/fisiopatologia , Aorta Abdominal/patologia , Idoso de 80 Anos ou mais
4.
Int J Cancer ; 2024 Oct 17.
Artigo em Inglês | MEDLINE | ID: mdl-39417611

RESUMO

This study investigated the role of Ninjurin1 (Ninj1), encoding a small transmembrane protein, in colitis-associated colon tumorigenesis in relation to sex hormones. Male and female wild-type (WT) and Ninj1 knockout (KO) mice were treated with azoxymethane (AOM) and dextran sulfate sodium (DSS), with or without testosterone propionate (TP). At week 2 (acute colitis stage), Ninj1 KO exhibited an alleviation in the colitis symptoms in both male and female mice. The M2 macrophage population increased and CD8+ T cell population decreased only in the female Ninj1 KO than in the female WT AOM/DSS group. In the female AOM/DSS group, TP treatment exacerbated colon shortening in the Ninj1 KO than in the WT. At week 13 (tumorigenesis stage), male Ninj1 KO mice had fewer tumors, but females showed similar tumors. In the WT AOM/DSS group, females had more M2 macrophages and fewer M1 macrophages than males, but this difference was absent in Ninj1 KO mice. In the Ninj1 KO versus WT group, the expression of pro-inflammatory mediators and Ho-1 and CD8+ T cell populations decreased in both female and male Ninj1 KO mice. In the WT group, M2 macrophage populations were increased by AOM/DSS treatment and decreased by TP treatment. However, neither treatment changed the cell populations in the Ninj1 KO group. These results suggest that Ninj1 is involved in colorectal cancer development in a testosterone-dependent manner, which was different in male and female. This highlights the importance of considering sex disparities in understanding Ninj1's role in cancer pathogenesis.

5.
Front Aging ; 5: 1365716, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-39372332

RESUMO

Frailty, a geriatric syndrome, is assessed using the frailty phenotype (FP) and frailty index (FI). While these approaches have been applied to aging mice, their effectiveness in prematurely aging mouse models such as PolgAD257A/D257A (PolgA) has not been completely explored. We demonstrated that frailty became evident in PolgA mice around 40 weeks, validated through body weight loss, reduced walking speed, decreased physical activity, and weaker grip strength. Moreover, we also identified sex differences in these mice with females exhibiting slightly more physical decline compared to males. Frailty prevalence in PolgA mice at 40 weeks parallels that observed in naturally aging mice at 27 months and aging humans at 65-70 years. These findings contribute to understanding frailty onset and sex-specific patterns in this prematurely aging mouse model, emphasizing the significance of the PolgA mouse model in investigating aging and related disorders.

6.
J Pain Res ; 17: 3005-3020, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-39308994

RESUMO

More than half of people with diabetes experience neuropathic pain. Previous research has shown that diabetes patients' neuropathic pain exhibits a circadian cycle, which is characterized by increased pain sensitivity at night. Additional clinical research has revealed that the standard opioid drugs are ineffective at relieving pain and do not change the circadian rhythm. This article describes diabetic neuropathic pain and circadian rhythms separately, with a comprehensive focus on circadian rhythms. It is hoped that this characteristic of diabetic neuropathic pain can be utilized in the future to obtain more effective treatments for it.

7.
Behav Sci (Basel) ; 14(9)2024 Sep 17.
Artigo em Inglês | MEDLINE | ID: mdl-39336047

RESUMO

Early psychosocial support for parents/legal guardians who have children with variations of sex characteristics (VSCs) is crucial in helping avoid potentially harmful medical procedures. Psychosocial support, including peer support, can help parents/legal guardians choose the best care path for their child, and it remains important throughout childhood. However, there is a lack of data on the provision of psychosocial support for families with a child who has VSCs. We sought knowledge about the timing and types of psychosocial support, and the level of implementation of psychosocial support amongst health and psychosocial care professionals and peer supporters. A survey was conducted using a purposive sample of healthcare professionals and members of peer support groups across Europe. A total of 301 responses were received and analysed using descriptive and inferential methods. The survey results showed that psychosocial support primarily addresses diagnostic procedures, medical treatment, and medical interventions. Whilst the majority of healthcare professionals aspired to have psychosocial support provided at the point where a diagnosis of VSCs was suspected, this was only reported as current practice by a minority of respondents. Overall, the survey indicates that there is a need for greater implementation of psychosocial support, and more collaboration between healthcare professionals and peer support groups in caring for children with VSCs and their families.

8.
Natl J Maxillofac Surg ; 15(2): 208-213, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-39234121

RESUMO

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.

10.
World J Mens Health ; 2024 Sep 13.
Artigo em Inglês | MEDLINE | ID: mdl-39344118

RESUMO

PURPOSE: Cardiovascular disease (CVD) is more prevalent in men than women, but the mechanisms responsible for this are not fully understood. We aimed to evaluate differences in trimethylamine (TMA), a microbial metabolite and its oxidized form, trimethylamine N-oxide (TMAO), which is thought to promote atherosclerosis, between men and women with coronary heart disease (CHD), using as a reference a non-CVD population. MATERIALS AND METHODS: This study was carried out within the framework of the CORDIOPREV study (NCT00924937; June 19, 2009), a clinical trial which included 827 men and 175 women with CHD, with a non-CVD population of 375 individuals (270 men and 105 women) as a reference group. Plasma TMA and TMAO were measured by HPLC-MS/MS. The carotid study was ultrasonically assessed bilaterally by the quantification of intima-media thickness of both common carotid arteries (IMT-CC). RESULTS: We found higher TMAO levels and TMAO/TMA ratio in CHD men than CHD women (p=0.034 and p=0.026, respectively). No TMA sex differences were found in CHD patients. The TMA and TMAO levels and TMAO/TMA ratio were lower, and no differences between sexes were found in the non-CVD population. TMAO levels in CHD patients were consistent with higher IMT-CC and more carotid plaques (p=0.032 and p=0.037, respectively) and lower cholesterol efflux in CHD men than CHD women (p<0.001). CONCLUSIONS: Our results suggest that CHD men have augmented TMAO levels compared with CHD women, presumably as a consequence of higher rate of TMA to TMAO oxidation, which could be associated with CVD, as these sex differences are not observed in a non-CVD population.

11.
J Genet Couns ; 2024 Sep 09.
Artigo em Inglês | MEDLINE | ID: mdl-39252447

RESUMO

Intersex, an umbrella term, describes individuals with sex characteristics that cannot be exclusively categorized into binary definitions of male or female. The intersex community faces a lack of social visibility perpetuated by a history of medical discrimination and pathologization shaped by "normalizing" genital surgeries without the child's consent. Despite efforts to reform clinical practice, there remains a paucity of research centering the needs of the intersex community and their families. This study explored parents' perspectives on how healthcare professionals (HCPs), such as genetics professionals, can provide patient-centered education and support when parents first learn of their child's intersex variation, with the aim of offering recommendations to HCPs to promote parental adjustment and protect intersex children's right to autonomy. Thirteen qualitative semi-structured interviews were conducted with 14 parents of intersex children. Through reflexive thematic analysis, under the framework of an agency-based approach to intersex health, thematic categories were inductively conceptualized, including barriers and facilitators to HCPs' sensitivity and to parental adjustment in the early disclosure environment. Barriers to HCPs' sensitivity were imposed by educational, religious, or medical institutions, along with sociocultural prejudices and pathologizing language. Barriers to parental adaptation included uncertainty regarding their child's future, sociocultural gender norms, and unsuitable information provision. Incorporating parental needs in the disclosure environment can facilitate familial acceptance, including normalization of variations of sex characteristics (VSCs), enhanced medical education, facilitation of patients' navigation, and prioritization of parents' social support needs.

12.
Hypertension ; 81(11): 2263-2274, 2024 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-39229711

RESUMO

BACKGROUND: The prevalence of hypertension and uncontrolled hypertension may differ by age and sex. METHODS: We included participants in the Atherosclerosis Risk in Communities study at seven study visits over 33 years (visit 1: 15 636 participants; mean age, 54 years; 55% women), estimating sex differences in prevalence of hypertension (systolic blood pressure ≥130 mm Hg; diastolic blood pressure ≥80 mm Hg; or self-reported antihypertension medication use) and uncontrolled hypertension (systolic blood pressure ≥140 mm Hg or diastolic blood pressure ≥90 mm Hg) using unadjusted and comorbidity-adjusted models. RESULTS: The prevalence of hypertension increased with age from 40% (ages, 43-46 years) to 93% (ages, 91-94 years). Within hypertensive individuals, the prevalence of uncontrolled hypertension was higher in men (33%) than women (23%) at ages 43 to 46 years but became higher in women than men starting at ages 61 to 64, with 56% of women and 40% men having uncontrolled hypertension at ages 91 to 94. This sex difference was not explained by differences in coronary heart disease, diabetes, body mass index, estimated glomerular filtration rate, number of antihypertension medications, classes of medications, or adherence to medications. In both sexes, uncontrolled hypertension was associated with a higher risk for chronic kidney disease progression (hazard ratio, 1.5 [1.2-1.9]; P=4.5×10-4), heart failure (hazard ratio, 1.6 [1.4-2.0]; P=8.1×10-7), stroke (hazard ratio, 2.1 [1.6-2.8]; P=1.8×10-8), and mortality (hazard ratio, 1.5 [1.3-1.6]; P=6.2×10-19). CONCLUSIONS: Sex differences in the prevalence of hypertension and uncontrolled hypertension vary by age, with the latter having implications for health throughout the life course.


Assuntos
Anti-Hipertensivos , Hipertensão , Humanos , Masculino , Feminino , Hipertensão/epidemiologia , Hipertensão/tratamento farmacológico , Hipertensão/fisiopatologia , Pessoa de Meia-Idade , Adulto , Anti-Hipertensivos/uso terapêutico , Fatores Sexuais , Prevalência , Idoso , Idoso de 80 Anos ou mais , Fatores Etários , Estados Unidos/epidemiologia , Pressão Sanguínea/fisiologia , Fatores de Risco
13.
Pulm Circ ; 14(3): e12436, 2024 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-39268397

RESUMO

Pulmonary arterial hypertension affects females more frequently than males, and there are known sex-related differences in the lungs. However, normal sex-related differences in pulmonary vascular structure remain incompletely described. We aimed to contrast computed tomography-derived pulmonary vascular volume and its distribution within the lungs of healthy adult females and males. From the CanCOLD Study, we retrospectively identified healthy never-smokers. We analyzed full-inspiration computed tomography images, using vessel and airway segmentation to generate pulmonary vessel volume, vessel counts, and airway counts. Vessels were classified by cross-sectional area >10, 5-10, and <5 mm2 into bins, with volume summed within each area bin and in total. We included 46 females and 36 males (62 ± 9 years old). Females had lower total lung volume, total airway counts, total vessel counts, and total vessel volume (117 ± 31 vs. 164 ± 28 mL) versus males (all p < 0.001). Females also had lower vessel volume >10 mm2 (14 ± 8 vs. 27 ± 9 mL), vessel volume 5-10 mm2 (35 ± 11 vs. 55 ± 10 mL), and vessel volume <5 mm2 (68 ± 18 vs. 82 ± 19 mL) (all p < 0.001). Normalized to total vessel volume, vessel volume >10 mm2 (11 ± 4 vs. 16 ± 4%, p < 0.001) and 5-10 mm2 (30 ± 6 vs. 34 ± 5%, p = 0.001) remained lower in females but vessel volume <5 mm2 relative to total volume was 18% higher (59 ± 8 vs. 50 ± 7%, p < 0.001). Among healthy older adults, pulmonary vessel volume is distributed into smaller vessels in females versus males.

14.
Circulation ; 150(15): 1161-1170, 2024 Oct 08.
Artigo em Inglês | MEDLINE | ID: mdl-39101218

RESUMO

BACKGROUND: Bradycardia is more common among well-trained athletes than in the general population, but the association with pacemaker implantations is less known. We investigated associations of endurance training with incidence of bradycardia and pacemaker implantations, including sex differences and long-term outcome, in a cohort of endurance trained individuals. METHODS: All Swedish skiers who completed >1 race in the cross-country skiing event Vasaloppet between 1989 and 2011 (n=209 108) and a sample of 532 290 nonskiers were followed until first event of bradycardia, pacemaker implantation, or death, depending on end point. The Swedish National Patient Register was used to obtain diagnoses. Cox regression was used to investigate associations of number of completed races and finishing time in Vasaloppet with incidence of bradycardia and pacemaker implantations. In addition, Cox regression was used to investigate associations of pacemaker implantations with death in skiers and nonskiers. RESULTS: Male skiers had a higher incidence of bradycardia (adjusted hazard ratio [aHR], 1.19 [95% CI, 1.05-1.34]) and pacemaker implantations (aHR, 1.17 [95% CI, 1.04-1.31]) compared with male nonskiers. Those who completed the most races and had the best performances exhibited the highest incidence. For female skiers in Vasaloppet, the incidence of bradycardia (aHR, 0.98 [95% CI, 0.75-1.30]) and pacemaker implantations (aHR, 0.98 [95% CI, 0.75-1.29]) was not different from that of female nonskiers. The indication for pacemaker differed between skiers and nonskiers, with sick sinus syndrome more common in the former and third-degree atrioventricular block in the latter. Skiers had lower overall mortality rates than nonskiers (aHR, 0.16 [95% CI, 0.15-0.17]). There were no differences in mortality rates by pacemaker status among skiers. CONCLUSIONS: In this study, male endurance skiers had a higher incidence of bradycardia and pacemaker implantations compared with nonskiers, a pattern not seen in women. Among male skiers, those who completed the most races and had the fastest finishing times had the highest incidence of bradycardia and pacemaker implantations. Within each group, mortality rates did not differ in relation to pacemaker status. These findings suggest that bradycardia associated with training leads to a higher risk for pacemaker implantation without a detrimental effect on mortality risk.


Assuntos
Bradicardia , Marca-Passo Artificial , Esqui , Humanos , Bradicardia/epidemiologia , Bradicardia/mortalidade , Bradicardia/terapia , Masculino , Feminino , Incidência , Suécia/epidemiologia , Adulto , Estudos de Coortes , Pessoa de Meia-Idade , Resistência Física , Fatores Sexuais , Adulto Jovem , Sistema de Registros
15.
Arterioscler Thromb Vasc Biol ; 44(10): 2169-2190, 2024 10.
Artigo em Inglês | MEDLINE | ID: mdl-39145392

RESUMO

Pulmonary hypertension is a rare, incurable, and progressive disease. Although there is increasing evidence that immune disorders, particularly those associated with connective tissue diseases, are a strong predisposing factor in the development of pulmonary arterial hypertension (PAH), there is currently a lack of knowledge about the detailed molecular mechanisms responsible for this phenomenon. Exploring this topic is crucial because patients with an immune disorder combined with PAH have a worse prognosis and higher mortality compared with patients with other PAH subtypes. Moreover, data recorded worldwide show that the prevalence of PAH in women is 2× to even 4× higher than in men, and the ratio of PAH associated with autoimmune diseases is even higher (9:1). Sexual dimorphism in the pathogenesis of cardiovascular disease was explained for many years by the action of female sex hormones. However, there are increasing reports of interactions between sex hormones and sex chromosomes, and differences in the pathogenesis of cardiovascular disease may be controlled not only by sex hormones but also by sex chromosome pathways that are not dependent on the gonads. This review discusses the role of estrogen and genetic factors including the role of genes located on the X chromosome, as well as the potential protective role of the Y chromosome in sexual dimorphism, which is prominent in the occurrence of PAH associated with autoimmune diseases. Moreover, an overview of animal models that could potentially play a role in further investigating the aforementioned link was also reviewed.


Assuntos
Doenças Autoimunes , Hipertensão Arterial Pulmonar , Humanos , Doenças Autoimunes/genética , Doenças Autoimunes/epidemiologia , Doenças Autoimunes/imunologia , Animais , Feminino , Masculino , Fatores Sexuais , Hipertensão Arterial Pulmonar/genética , Hipertensão Arterial Pulmonar/epidemiologia , Hipertensão Arterial Pulmonar/fisiopatologia , Caracteres Sexuais , Fatores de Risco , Predisposição Genética para Doença , Cromossomos Humanos X/genética , Hormônios Esteroides Gonadais/metabolismo , Artéria Pulmonar/fisiopatologia , Artéria Pulmonar/metabolismo , Cromossomos Humanos Y/genética , Disparidades nos Níveis de Saúde
16.
Hypertension ; 81(10): e113-e124, 2024 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-39087326

RESUMO

BACKGROUND: The impact of methylation gestational age (GAmAge; a biomarker of fetal maturity) at birth on childhood blood pressure (BP) trajectories is unknown. METHODS: This cohort study included 500 boys and 440 girls with data on cord blood DNA methylation and BP at 3 to 15 years of age. Systolic BP (SBP) and diastolic BP percentiles were calculated based on clinical guidelines. Time-series K-means clustering identified 4 distinct SBP and diastolic BP percentile trajectories: high-steady, high-decrease, normal-increase, and normal-steady. GAmAge was estimated using an existing pediatric epigenetic clock. Extrinsic age acceleration was calculated as residuals of associations between GAmAge and chronological gestational age. Intrinsic age acceleration was calculated using the same method adjusting for cord blood cell compositions. RESULTS: Extrinsic age acceleration and intrinsic age acceleration were inversely associated with repeated measures of BP percentiles. Significant inverse associations were observed between extrinsic age acceleration and SBP percentiles in boys (ß=-2.02; P=0.02) but not in girls (ß=-0.49; P=0.58). Both extrinsic age acceleration and intrinsic age acceleration were inversely associated with SBP percentiles in girls born preterm (<37 weeks; ßEAA=-2.95; ßIAA=-3.00; P<0.05). Compared with the normal-steady SBP trajectory, significant inverse associations were observed between intrinsic age acceleration and high-steady, high-decrease, and normal-increase SBP trajectories in boys (odds ratio, 0.73-0.81; P<0.03), and significant positive associations were observed for high-decrease and normal-increase SBP trajectories in girls (odds ratio, 1.26-1.38; P<0.01). Significant sex differences were observed (Psex-interaction<2×10-16). CONCLUSIONS: GAmAge acceleration at birth was inversely associated with child BP, and such association was more pronounced in boys than in girls. Our findings may shed new light on the developmental origins of high BP and sex differences in cardiovascular risk.


Assuntos
Pressão Sanguínea , Metilação de DNA , Epigênese Genética , Idade Gestacional , Humanos , Feminino , Masculino , Criança , Pressão Sanguínea/fisiologia , Pressão Sanguínea/genética , Pré-Escolar , Estudos Prospectivos , Recém-Nascido , Adolescente , Coorte de Nascimento , Sangue Fetal/metabolismo , Hipertensão/genética , Hipertensão/fisiopatologia , Hipertensão/epidemiologia
17.
Hypertension ; 81(10): 2091-2100, 2024 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-39109449

RESUMO

BACKGROUND: The strong relationship between blood pressure (BP) and age is well known. Limited evidence suggests that a steeper age-BP slope may be associated with an increased risk of adverse outcomes. The May Measurement Month campaign enables an investigation of geographic, socioeconomic, and sex differences in age-related BP gradients and their association with public-health outcomes. METHODS: Cross-sectional, annual global BP May Measurement Month screening data were analyzed. Average systolic BP and age-related BP slopes across different age groups were calculated to assess regional, socioeconomic, and sex-stratified variations. The association of BP slopes derived from adjusted linear regression models with country-level health metrics was investigated. RESULTS: Age-related systolic BP gradients differed distinctly across global geographic regions, income levels, and between sexes. The steepest age gradients of BP were observed in populations from Africa and Europe. Women had lower BP levels than men at younger ages (20s and 30s) but subsequently experienced more pronounced age-related BP gradients. Geographically divergent age-related BP gradients were significantly associated with major national public health indicators. Globally, steeper age-related BP slopes were associated with poor BP control, increased disability-adjusted life years, and death rates. A steeper population age-BP slope of 1 mm Hg per 10 years was associated with a decrease in life expectancy of 3.3 years in this population (95% CI, -5.1 to -1.4; P=0.0007). CONCLUSIONS: Age-related BP gradients vary considerably across global populations and are associated with variability in BP-related risks and adverse outcomes across regions. Effective public health strategies may require region-specific targeting of adverse BP gradients to improve health outcomes.


Assuntos
Pressão Sanguínea , Saúde Global , Hipertensão , Humanos , Masculino , Feminino , Adulto , Pessoa de Meia-Idade , Pressão Sanguínea/fisiologia , Estudos Transversais , Hipertensão/fisiopatologia , Hipertensão/epidemiologia , Idoso , Fatores Etários , Adulto Jovem , Determinação da Pressão Arterial/métodos , Determinação da Pressão Arterial/estatística & dados numéricos , Fatores Sexuais
18.
BMC Med Genomics ; 17(1): 195, 2024 Aug 05.
Artigo em Inglês | MEDLINE | ID: mdl-39103808

RESUMO

BACKGROUND: The Cut Homeobox 1 (CUX1) gene has been implicated in a number of developmental processes and has recently emerged as an important cause of developmental delay and impaired intellectual development. Individuals with variants in CUX1 have been described with a variety of co-morbidities including variations in sex development (VSD) although these features have not been closely documented. CASE PRESENTATION: The proband is a 14-year-old male who presented with congenital complex hypospadias, neurodevelopmental differences, and subtle dysmorphism. A family history of neurodevelopmental differences and VSD was noted. Microarray testing and whole exome sequencing found the 46,XY proband had a large heterozygous in-frame deletion of exons 4-10 of the CUX1 gene. CONCLUSIONS: Our review of the literature has revealed that variants in CUX1 are associated with a range of VSD and suggest this gene should be considered in cases where a VSD is noted at birth, especially if there is a familial history of VSD and/or neurodevelopmental differences. Further work is required to fully investigate the role and regulation of CUX1 in sex development.


Assuntos
Proteínas de Homeodomínio , Proteínas Repressoras , Humanos , Masculino , Proteínas de Homeodomínio/genética , Adolescente , Proteínas Repressoras/genética , Fatores de Transcrição/genética , Desenvolvimento Sexual/genética
19.
Head Face Med ; 20(1): 44, 2024 Aug 30.
Artigo em Inglês | MEDLINE | ID: mdl-39215305

RESUMO

BACKGROUND: Cranial, facial, nasal, and maxillary widths have been shown to be significantly affected by the individual's sex. The present study aims to use measurements of dental arch and maxillary skeletal base to determine sex, employing supervised machine learning. MATERIALS AND METHODS: Maxillary and mandibular tomographic examinations from 100 patients were analyzed to investigate the inter-premolar width, inter-molar width, maxillary width, inter-pterygoid width, nasal cavity width, nostril width, and maxillary length, obtained through Cone Beam Computed Tomography scans. The following machine learning algorithms were used to build the predictive models: Logistic Regression, Gradient Boosting Classifier, K-Nearest Neighbors (KNN), Support Vector Machine (SVM), Multi-Layer Perceptron Classifier (MLP), Decision Tree, and Random Forest Classifier. A 10-fold cross-validation approach was adopted to validate each model. Metrics such as area under the curve (AUC), accuracy, recall, precision, and F1 Score were calculated for each model, and Receiver Operating Characteristic (ROC) curves were constructed. RESULTS: Univariate analysis showed statistical significance (p < 0.10) for all skeletal and dental variables. Nostril width showed greater importance in two models, while Inter-molar width stood out among dental measurements. The models achieved accuracy values ranging from 0.75 to 0.85 on the test data. Logistic Regression, Random Forest, Decision Tree, and SVM models had the highest AUC values, with SVM showing the smallest disparity between cross-validation and test data for accuracy metrics. CONCLUSION: Transverse dental arch and maxillary skeletal base measurements exhibited strong predictive capability, achieving high accuracy with machine learning methods. Among the evaluated models, the SVM algorithm exhibited the best performance. This indicates potential usefulness in forensic sex determination.


Assuntos
Tomografia Computadorizada de Feixe Cônico , Arco Dental , Aprendizado de Máquina , Maxila , Humanos , Feminino , Masculino , Maxila/diagnóstico por imagem , Maxila/anatomia & histologia , Tomografia Computadorizada de Feixe Cônico/métodos , Adulto , Arco Dental/diagnóstico por imagem , Arco Dental/anatomia & histologia , Pessoa de Meia-Idade , Adulto Jovem , Determinação do Sexo pelo Esqueleto/métodos , Adolescente , Análise para Determinação do Sexo/métodos , Estudos Retrospectivos
20.
CNS Neurosci Ther ; 30(8): e14894, 2024 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-39107957

RESUMO

BACKGROUND: Subarachnoid hemorrhage (SAH) represents a severe stroke subtype. Our study aims to develop gender-specific prognostic prediction models derived from distinct prognostic factors observed among different-gender patients. METHODS: Inclusion comprised SAH-diagnosed patients from January 2014 to March 2016 in our institution. Collected data encompassed patients' demographics, admission severity, treatments, imaging findings, and complications. Three-month post-discharge prognoses were obtained via follow-ups. Analyses assessed gender-based differences in patient information. Key factors underwent subgroup analysis, followed by univariate and multivariate analyses to identify gender-specific prognostic factors and establish/validate gender-specific prognostic models. RESULTS: A total of 929 patients, with a median age of 57 (16) years, were analyzed; 372 (40%) were male, and 557 (60%) were female. Differences in age, smoking history, hypertension, aneurysm presence, and treatment interventions existed between genders (p < 0.01), yet no disparity in prognosis was noted. Subgroup analysis explored hypertension history, aneurysm presence, and treatment impact, revealing gender-specific variations in these factors' influence on the disease. Screening identified independent prognostic factors: age, SEBES score, admission GCS score, and complications for males; and age, admission GCS score, intraventricular hemorrhage, treatment interventions, symptomatic vasospasm, hydrocephalus, delayed cerebral ischemia, and seizures for females. Evaluation and validation of gender-specific models yielded an AUC of 0.916 (95% CI: 0.878-0.954) for males and 0.914 (95% CI: 0.885-0.944) for females in the ROC curve. Gender-specific prognostic models didn't significantly differ from the overall population-based model (model 3) but exhibited robust discriminative ability and clinical utility. CONCLUSION: Variations in baseline and treatment-related factors among genders contribute partly to gender-based prognosis differences. Independent prognostic factors vary by gender. Gender-specific prognostic models exhibit favorable prognostic performance.


Assuntos
Caracteres Sexuais , Hemorragia Subaracnóidea , Humanos , Hemorragia Subaracnóidea/diagnóstico , Masculino , Feminino , Pessoa de Meia-Idade , Prognóstico , Idoso , Adulto , Estudos Retrospectivos
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