Nature Reviews Disease Primers最新文献

Groin hernias are among the most common indications for surgery worldwide, affecting both men and women, with a significantly higher prevalence in men. These hernias occur when intra-abdominal contents protrude through a weakened area in the groin region, most commonly as inguinal or femoral hernias. The pathogenesis of groin hernias is a complex interplay of genetic predisposition, connective tissue abnormalities and mechanical strain. While watchful waiting is an option for some asymptomatic patients, surgical repair remains the definitive treatment, with both open and minimally invasive techniques available. Tension-free mesh repair has significantly reduced the overall recurrence rates and is now the standard approach in adults in most clinics. However, tissue-based repairs are still preferred in select populations such as children, teenagers and those in resource-limited settings. Advances in laparoscopic and robotic-assisted techniques offer benefits such as reduced postoperative pain and faster recovery. Despite surgical advancements, complications, such as chronic postoperative pain and recurrence, continue to pose challenges. Future research aims to refine surgical techniques, look at mesh-related complications, develop bioengineered meshes and explore the genetic basis of hernia formation.

Plaque psoriasis is a chronic, immune-mediated inflammatory skin disease that has considerable effects on patients' physical, psychological and social well-being. It is strongly influenced by genetic predisposition, with HLA-C*06:02 showing the strongest association, particularly in those with early-onset disease. Additional susceptibility loci, including IL23A, IL12B and IL17RA, are linked to dysregulation of the IL-23-T helper 17 axis, which contributes to chronic inflammation and keratinocyte hyperproliferation. Plaque psoriasis is frequently associated with psoriatic arthritis and other comorbidities, such as cardiovascular disease, metabolic syndrome and psychiatric disorders, all of which contribute to increased morbidity and mortality. Management strategies are tailored to disease severity and the presence of comorbidities. For mild disease, topical therapies remain the first-line treatment, including corticosteroids, vitamin D analogues and topical calcineurin inhibitors. New non-steroidal agents, such as topical PDE4 and aryl hydrocarbon receptor agonists, offer additional options. In moderate-to-severe disease, oral systemic therapies, such as methotrexate, ciclosporin, acitretin, apremilast and deucravacitinib, provide a range of immunomodulatory effects. Biologic therapies targeting TNF, IL-17, IL-23 and IL-12/23 have demonstrated high efficacy in improving both cutaneous and systemic inflammation. Current research on systemic therapies is focused on the development of additional inhibitors of the Tyk2 pathway and inhibitors to IL-23 receptor, IL-17, and TNF. Early screening for psoriatic arthritis, proactive cardiovascular risk reduction and multidisciplinary care are crucial to optimizing long-term outcomes. Ongoing research continues to advance precision medicine approaches, with the goal of enhancing treatment durability and improving quality of life for individuals living with psoriasis.

Bacterial vaginosis (BV) is a vaginal microbiome disorder that is associated with preterm birth and spontaneous abortion, increased risk of HIV infection and sexually transmitted infections, and has negative effects on quality of life. BV affects one in four women globally, with the highest burden in resource-limited settings. Marked alterations in vaginal microbiome composition, in pro-inflammatory cytokines and chemokines, and in the proteome and metabolome characterize BV and contribute to adverse sequelae. Despite its prevalence, the exact aetiologic agent of BV is unknown and its pathophysiology is poorly understood. These knowledge gaps impede diagnostic and management approaches, with recommended treatment strategies resulting in recurrence that exceeds 50% over 3-6 months. New data on the sexual transmission of BV, including evidence that male-partner treatment improves cure, have improved our understanding of its aetiology and pathogenesis, and provide opportunities for developing optimal diagnostic, treatment and prevention strategies. Other factors probably also contribute to the low efficacy of current treatments, including biofilm and/or antimicrobial resistance, and failure to recolonize a favourable vaginal microbiome after treatment. The complex pathophysiology of BV highlights that individualized and multifaceted management approaches will be required to manage the refractory and adverse sequelae of BV.

Placenta accreta spectrum is an increasingly common placental-related disorder diagnosed at birth when the placenta cannot be fully detached manually from the uterine wall, often requiring a surgical removal. Following a worldwide increase in caesarean delivery rates, more than 90% of cases are now found in patients with a history of caesarean delivery and an anterior low-lying placenta or a placenta previa. Accreta placentation is not a consequence of an inherently more aggressive cancer-like trophoblast but of a loss of the normal physiological cell signalling and physical regulatory mechanisms in the scar tissue, with higher-than-normal maternal blood velocity entering the intervillous space of the placenta, distortion of the corresponding lobules and a loss of the physiological site of detachment from the uterine wall. If unsuspected at the time of delivery, attempts to manually remove accreta tissue are often associated with major and sometimes uncontrollable bleeding. Patients with a high probability of placenta accreta spectrum at birth can be generally identified by prenatal ultrasonography, permitting management by a multidisciplinary team. Owing to the high risk of intraoperative and postpartum haemorrhage and damage to other pelvic organs, placenta previa accreta presents a management challenge, particularly in healthcare systems with limited resources. Involving the pregnant patient and their family in preparation for delivery reduces psychological morbidity associated with complex obstetric surgery. Standardized reporting protocols are essential to develop new management strategies. Further research is required to characterize the complex cellular changes at the uteroplacental interface in placenta accreta spectrum.

Brugada syndrome (BrS) is a cardiac channelopathy associated with an elevated risk of arrhythmias and sudden cardiac death compared with the general population. Since its initial description in 1992 by Pedro and Josep Brugada, there has been tremendous progress in our understanding and management of BrS. The condition is characterized by 'coved' ST segment elevations in the anterior precordial electrocardiogram leads, which occasionally requires additional pharmacological provocation for diagnosis. Substantial geographical variation in the prevalence, genetic characteristics and clinical behaviour of BrS exists. Improvements in the understanding of the genetic and molecular mechanisms of the condition have been made over the past 30 years, opening avenues for the discovery of diagnostic and management opportunities. In this Primer, we discuss the evolving epidemiology of BrS, the emerging genetic understanding of the condition, as well as its diagnosis and management. We summarize the major societal guideline recommendations pertaining to BrS and highlight the potential for technological advancements, such as digital health and machine learning, to improve patient care.