Articles: phenotype.
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Chinese medical journal · Nov 2024
Chest computed tomography-based artificial intelligence-aided latent class analysis for diagnosis of severe pneumonia.
There is little literature describing the artificial intelligence (AI)-aided diagnosis of severe pneumonia (SP) subphenotypes and the association of the subphenotypes with the ventilatory treatment efficacy. The aim of our study is to illustrate whether clinical and biological heterogeneity, such as ventilation and gas-exchange, exists among patients with SP using chest computed tomography (CT)-based AI-aided latent class analysis (LCA). ⋯ A two-class LCA model based on AI quantification results of chest CT in the SP population particularly revealed clinical heterogeneity of lung function. Identifying the degree of match between ventilation and gas-exchange may help guide decisions about assisted ventilation.
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Chinese medical journal · Nov 2024
ReviewRNF213 in moyamoya disease: Genotype-phenotype association and the underlying mechanism.
Moyamoya disease (MMD) is a cerebrovascular disorder characterized by a steno-occlusive internal carotid artery and compensatory vascular network formation. Although the precise pathogenic mechanism remains elusive, genetic association studies have identified RNF213 as the principal susceptibility gene for MMD, with the single nucleotide polymorphism p. R4810K recognized as the founder variant predominantly in the Asian populations. ⋯ This heterogeneity, in conjunction with the observed low disease penetrance of RNF213 mutations, suggests that the presence of these mutations may not be sufficient to cause MMD, underscoring the potential influence of other genetic or environmental factors. Although the current research might not have fully identified these additional contributors, experimental evidence points toward the involvement of RNF213 in angiogenesis, lipid metabolism, and the immune response. Future research is required to unveil the molecular mechanisms and identify the factors that synergize with RNF213 in the pathogenesis of MMD.
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Eur. J. Intern. Med. · Nov 2024
ReviewPulmonary hypertension associated to left heart disease: Phenotypes and treatment.
Pulmonary hypertension associated to left heart disease (PH-LHD) refers to a clinical and haemodynamic condition of pulmonary hypertension associated with a heterogeneous group of diseases affecting any of the compartments that form the left ventricle and left atrium. PH-LHD is the most common cause of PH, accounting for 65-80 % of diagnoses. Based on the haemodynamic phase of the disease, PH-LDH is classified into three subgroups: postcapillary PH, isolated postcapillary PH and combined pre-postcapillary PH (CpcPH). ⋯ In this manuscript we provide a state of the art of the available clinical trials investigating the safety and efficacy of PAH-specific drugs, as well as drugs active in patients with heart failure and PH-LHD. We also discuss the different phenotypes of PH-LHD, as well as molecular targets and signaling pathways potentially involved in the pathophysiology of the disease. Finally we will mention some new emerging therapies that can be used to treat this form of PH.
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Multicenter Study
Primary Ciliary Dyskinesia in Adult Bronchiectasis: Data from the German Bronchiectasis Registry PROGNOSIS.
Primary ciliary dyskinesia (PCD) is a rare genetic disorder caused by the malfunction of motile cilia and a specific etiology of adult bronchiectasis of unknown prevalence. A better understanding of the clinical phenotype of adults with PCD is needed to identify individuals for referral to diagnostic testing. ⋯ gov.
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Mayo Clinic proceedings · Nov 2024
Prevalence, Penetrance, and Phenotypic Manifestation of Cardiomyopathy-Associated Genetic Variants in the General Population: Insights from a Mayo Clinic Biobank Study.
To determine the prevalence, penetrance, and disease expression of cardiomyopathy-related genetic variants in an unselected, richly phenotyped Mayo Clinic population in the setting of preemptive sequencing, with return of incidental findings following the American College of Medical Genetics and Genomics recommendations. ⋯ Cardiomyopathy-associated LP/P variants are present in a small subset of a quaternary medical center population, and disease penetrance in G+ individuals is high in the form of cardiac structural abnormalities and heart failure.