Nature Reviews Disease Primers

Mocumbi, Ana; Humbert, Marc; Saxena, Anita; Jing, Zhi-Cheng; Sliwa, Karen; Thienemann, Friedrich; Archer, Stephen L.; Stewart, Simon

2024 Nature Reviews Disease Primers

doi: 10.1038/s41572-023-00486-7pmid: 38177157

Pulmonary hypertension encompasses a range of conditions directly or indirectly leading to elevated pressures within the pulmonary arteries. Five main groups of pulmonary hypertension are recognized, all defined by a mean pulmonary artery pressure of >20 mmHg: pulmonary arterial hypertension (rare), pulmonary hypertension associated with left-sided heart disease (very common), pulmonary hypertension associated with lung disease (common), pulmonary hypertension associated with pulmonary artery obstructions, usually related to thromboembolic disease (rare), and pulmonary hypertension with unclear and/or multifactorial mechanisms (rare). At least 1% of the world’s population is affected, with a greater burden more likely in low-income and middle-income countries. Across all its forms, pulmonary hypertension is associated with adverse vascular remodelling with obstruction, stiffening and vasoconstriction of the pulmonary vasculature. Without proactive management this leads to hypertrophy and ultimately failure of the right ventricle, the main cause of death. In older individuals, dyspnoea is the most common symptom. Stepwise investigation precedes definitive diagnosis with right heart catheterization. Medical and surgical treatments are approved for pulmonary arterial hypertension and chronic thromboembolic pulmonary hypertension. There are emerging treatments for other forms of pulmonary hypertension; but current therapy primarily targets the underlying cause. There are still major gaps in basic, clinical and translational knowledge; thus, further research, with a focus on vulnerable populations, is needed to better characterize, detect and effectively treat all forms of pulmonary hypertension.

Lin, Jonathan B.; Narayanan, Raja; Philippakis, Elise; Yonekawa, Yoshihiro; Apte, Rajendra S.

2024 Nature Reviews Disease Primers

doi: 10.1038/s41572-024-00501-5pmid: 38485969

Retinal detachment (RD) occurs when the neurosensory retina, the neurovascular tissue responsible for phototransduction, is separated from the underlying retinal pigment epithelium (RPE). Given the importance of the RPE for optimal retinal function, RD invariably leads to decreased vision. There are three main types of RD: rhegmatogenous, tractional and exudative (also termed serous) RD. In rhegmatogenous RD, one or more retinal breaks enable vitreous fluid to enter the subretinal space and separate the neurosensory retina from the RPE. In tractional RD, preretinal, intraretinal or subretinal membranes contract and exert tangential forces and elevate the retina from the underlying RPE. Finally, in exudative RD, an underlying inflammatory condition, vascular abnormality or the presence of a tumour causes exudative fluid to accumulate in the subretinal space, exceeding the osmotic pump function of the RPE. The surgical management of RD usually involves pars plana vitrectomy, scleral buckling or pneumatic retinopexy. The approach taken often depends on patient characteristics as well as on practitioner experience and clinical judgement. Advances in surgical technology and continued innovation have improved outcomes for many patients. However, even if retinal re-attachment is achieved, some patients still experience decreased vision or other visual symptoms, such as metamorphopsia, that diminish their quality of life. Continued research in the areas of neuroprotection and retinal biology as well as continued surgical innovation are necessary to enhance therapeutic options and outcomes for these patients.

van Lennep, Marinde; Singendonk, Maartje M. J.; Dall’Oglio, Luigi; Gottrand, Fréderic; Krishnan, Usha; Terheggen-Lagro, Suzanne W. J.; Omari, Taher I.; Benninga, Marc A.; van Wijk, Michiel P.

2024 Nature Reviews Disease Primers

doi: 10.1038/s41572-024-00513-1pmid: 38519551

2024 Nature Reviews Disease Primers

doi: 10.1038/s41572-024-00509-xpmid: 38485941

This PrimeView highlights the mechanisms that lead to retinal detachment, and summarizes the epidemiology, diagnosis and management of this disorder. It accompanies the Primer article on this topic by Lin et al.

MacKillop, James; Agabio, Roberta; Feldstein Ewing, Sarah W.; Heilig, Markus; Kelly, John F.; Leggio, Lorenzo; Lingford-Hughes, Anne; Palmer, Abraham A.; Parry, Charles D.; Ray, Lara; Rehm, Jürgen

2024 Nature Reviews Disease Primers

doi: 10.1038/s41572-024-00561-7pmid: 39304664

Faraone, Stephen V.; Bellgrove, Mark A.; Brikell, Isabell; Cortese, Samuele; Hartman, Catharina A.; Hollis, Chris; Newcorn, Jeffrey H.; Philipsen, Alexandra; Polanczyk, Guilherme V.; Rubia, Katya; Sibley, Margaret H.; Buitelaar, Jan K.

2024 Nature Reviews Disease Primers

doi: 10.1038/s41572-024-00495-0pmid: 38388701

Attention-deficit/hyperactivity disorder (ADHD; also known as hyperkinetic disorder) is a common neurodevelopmental condition that affects children and adults worldwide. ADHD has a predominantly genetic aetiology that involves common and rare genetic variants. Some environmental correlates of the disorder have been discovered but causation has been difficult to establish. The heterogeneity of the condition is evident in the diverse presentation of symptoms and levels of impairment, the numerous co-occurring mental and physical conditions, the various domains of neurocognitive impairment, and extensive minor structural and functional brain differences. The diagnosis of ADHD is reliable and valid when evaluated with standard diagnostic criteria. Curative treatments for ADHD do not exist but evidence-based treatments substantially reduce symptoms and/or functional impairment. Medications are effective for core symptoms and are usually well tolerated. Some non-pharmacological treatments are valuable, especially for improving adaptive functioning. Clinical and neurobiological research is ongoing and could lead to the creation of personalized diagnostic and therapeutic approaches for this disorder.

2024 Nature Reviews Disease Primers

doi: 10.1038/s41572-024-00512-2pmid: 38523194

This PrimeView highlights the epidemiology of multidrug-resistant tuberculosis, and summarizes the mechanisms, diagnosis and management of this disease. It accompanies the Primer article on this topic by Dheda et al.

2024 Nature Reviews Disease Primers

doi: 10.1038/s41572-024-00548-4pmid: 39143080

This PrimeView highlights the management of heart failure with preserved ejection fraction, and summarizes the epidemiology, mechanisms, diagnosis, and quality of life of this disorder. It accompanies the Primer article on this topic by Hamo et al.

Hamo, Carine E.; DeJong, Colette; Hartshorne-Evans, Nick; Lund, Lars H.; Shah, Sanjiv J.; Solomon, Scott; Lam, Carolyn S. P.

2024 Nature Reviews Disease Primers

doi: 10.1038/s41572-024-00540-ypmid: 39143132

Heart failure with preserved ejection fraction (HFpEF) accounts for nearly half of all heart failure cases and has a prevalence that is expected to rise with the growing ageing population. HFpEF is associated with significant morbidity and mortality. Specific HFpEF risk factors include age, diabetes, hypertension, obesity and atrial fibrillation. Haemodynamic contributions to HFpEF include changes in left ventricular structure, diastolic and systolic dysfunction, left atrial myopathy, pulmonary hypertension, right ventricular dysfunction, chronotropic incompetence, and vascular dysfunction. Inflammation, fibrosis, impaired nitric oxide signalling, sarcomere dysfunction, and mitochondrial and metabolic defects contribute to the cellular and molecular changes observed in HFpEF. HFpEF impacts multiple organ systems beyond the heart, including the skeletal muscle, peripheral vasculature, lungs, kidneys and brain. The diagnosis of HFpEF can be made in individuals with signs and symptoms of heart failure with abnormality in natriuretic peptide levels or evidence of cardiopulmonary congestion, facilitated by the use of HFpEF risk scores and additional imaging and testing with the exclusion of HFpEF mimics. Management includes initiation of guideline-directed medical therapy and management of comorbidities. Given the significant impact of HFpEF on quality of life, future research efforts should include a particular focus on how patients can live better with this disease.

Scheffer, Ingrid E.; Zuberi, Sameer; Mefford, Heather C.; Guerrini, Renzo; McTague, Amy

2024 Nature Reviews Disease Primers

doi: 10.1038/s41572-024-00558-2pmid: 39271712