Medicina clinica
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Real-world registries have been critical to building the scientific knowledge of rare diseases, including Pulmonary Arterial Hypertension (PAH). In the past 4 decades, a considerable number of registries on this condition have allowed to improve the pathology and its subgroupś definition, to advance in the understanding of its pathophysiology, to elaborate prognostic scales and to check the transferability of the results from clinical trials to clinical practice. ⋯ For that reason, Machine Learning (ML) offer a unique opportunity to manage all these data and, finally, to obtain tools that may help to get an earlier diagnose, to help to deduce the prognosis and, in the end, to advance in Personalized Medicine. Thus, we present a narrative revision with the aims of, in one hand, summing up the aspects in which data extraction is important in rare diseases -focusing on the knowledge gained from PAH real-world registries- and, on the other hand, describing some of the achievements and the potential use of the ML techniques on PAH.
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Chronic thrombo-embolic pulmonary hypertension (CTEPH) is a potentially curable form of pulmonary hypertension (PH) that develops in up to 3% of patients after pulmonary embolism (PE). In these patients, PE does not resolve, leading to organized fibrotic clots, with the development of precapillary PH as a result of the proximal obstruction of the pulmonary arteries. In addition, a distal microvasculopathy may also develop, contributing to the increase of pulmonary vascular resistance. ⋯ Balloon pulmonary angioplasty is an endovascular technique that targets more distal lesions, being potentially useful for patients with inoperable CTEPH or persistent/recurrent PH post-endarterectomy. Both types of patients may also benefit from pharmacological treatment for PH. These three therapies are the cornerstone of CTEPH treatment, which has evolved towards a multimodal approach.
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Anorexia nervosa and bulimia nervosa are eating disorders associated with life-threatening multisystemic medical complications. This narrative review aimed to present the medical complications most related to these disorders. ⋯ Thus, an early identification and therapeutic intervention of these disorders is considered crucial. Integral medical monitoring should be ensured to prevent potential serious complications from the early stages, with the involvement of physicians, psychologists, nutritionists, and other specialists in a multidisciplinary approach according to the patient's needs.
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Acute aortic syndrome embraces a group of heterogenous pathological entities involving the aortic wall with a common clinical profile. The current epidemiology, clinical presentation, diagnosis and treatment strategy are discussed in this review. Besides, the importance of multidisciplinary aortic teams, aortic centers and the implementation of an aortic code are emphasized.
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Review Case Reports
Autoimmune encephalitis related to LGI1 antibodies with negative MRI study: Description of two cases.
Leucine-rich glioma inactivated 1 (LGI1) antibody-related autoimmune encephalitis is easily misdiagnosed clinically because of its complex and diverse clinical manifestations. We present two cases of LGI1 antibody-related encephalitis with negative imaging findings and perform a literature review on this disease entity. ⋯ Based on our experience and the literature review, we recommend that LGI1 antibody-related encephalitis should be considered when faciobrachial dystonic seizures, acute and subacute-onset seizures, low serum sodium (possibly with low CSF chloride), and cognitive-psychiatric disorders are encountered, even in the absence of specific radiographic and altered CSF findings.