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CLINICAL IMPACT: Mechanical thrombectomy using a thromboaspiration catheter can be an effective alternative in the treatment of subacute pulmonary embolism.
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BACKGROUND: Systemic lupus erythematosus (SLE) significantly affects the lungs and heart, and pulmonary hypertension (PH) is a severe manifestation that leads to considerable morbidity and mortality. OBJECTIVES: We aimed to determine the prevalence and risk factors of probable SLE-PH, assess the main echocardiographic predictors and develop a potential screening strategy. METHODS: A prospective single-centre study was conducted on 201 patients with SLE who underwent transthoracic echocardiography. Patients meeting PH criteria were referred for right heart catheterisation (RHC). RESULTS: Among patients, 88.56% were women, 85.57% were of Spanish origin and 43.78% had structural heart disease. Out of these, 16 (7.96%) had intermediate or high probability criteria for PH according to European Society of Cardiology (ESC) 2022. Six RHCs confirmed PH with a prevalence of 2.99% for SLE-PH and 1.99% for SLE-pulmonary arterial hypertension (PAH). KEY RISK FACTORS: Key risk factors included age, cardiorespiratory symptoms, serositis, anti-Ro, cardiac biomarkers and altered pulmonary function tests (PFTs). PH was linked to a higher Systemic Lupus International Collaborative Clinics/American College of Rheumatology Damage Index (SDI) (mean SDI 4.75 vs 2.05, p<0.001) and increased mortality risk in a 2-year follow-up (12.50% vs 1.08%, p=0.002). CONCLUSION: In our cohort, 7.96% of patients with SLE had an intermediate or high PH probability. By RHC, six patients (2.99%) met the ESC/European Respiratory Society criteria for PH and four (1.99%) for PAH. The main risk factors were older age, cardiorespiratory symptoms, serositis, anti-Ro, cardiac biomarkers and altered PFTs. PH was a severe SLE complication, suggesting the need for earlier diagnosis through data-driven screening to reduce associated morbidity and mortality.
Subject(s)
Hypertension, Pulmonary , Lupus Erythematosus, Systemic , Serositis , Humans , Female , Male , Hypertension, Pulmonary/diagnosis , Hypertension, Pulmonary/epidemiology , Hypertension, Pulmonary/etiology , Prevalence , Prospective Studies , Echocardiography , Lupus Erythematosus, Systemic/complications , Lupus Erythematosus, Systemic/epidemiology , BiomarkersABSTRACT
BACKGROUND: The diagnosis of cystic fibrosis (CF) is established when characteristic clinical signs are coupled with biallelic CFTR pathogenic variants. No previously reported non-canonical splice site variants have to be considered as variants of uncertain significance unless their effect on splicing has been validated. METHODS: Two variants identified by next-generation sequencing were evaluated. We assayed their effects on splicing employing RNA analysis and real-time expression quantification from RNA obtained from the nasal epithelial cells of a patient with clinically suspected CF and of two patients with milder phenotypes (CFTR-related disorders). RESULTS: The variant c.164+2dup causes skipping of exon 2 (p.(Ser18_Glu54del)) and exon 2 plus 3 (p.(Ser18Argfs*16)) in CFTR mRNA. Exon 2 expression in the patient heterozygous for c.164+2dup was decreased to 7 % of the exon 2 expression in the controls. The synonymous variant c.1584G>A causes a partial skipping of exon 11. The exon 11 expression in the two patients heterozygous for this variant was 22 % and 42 % of that of the controls, respectively. CONCLUSION: We conclude that variant c.164+2dup affects mRNA processing and can be considered a CF-causing variant. The results of the functional assay also showed that the p.(Glu528=) variant, usually categorized as a neutral variant based on epidemiological data, partially affects mRNA processing in our patients. This finding would allow us to reclassify the variant as a CFTR-related variant with incomplete penetrance. RNA obtained from nasal epithelial cells is an easy and accurate tool for CFTR functional studies in patients with unclassified splice variants.
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El aumento de la supervivencia que se ha logrado con el tratamiento antirretroviral de gran actividad ha permitido a los clínicos y a los investigadores analizar nuevos problemas que surgen a largo plazo en los pacientes con infección por el virus de la inmunodeficiencia humana (VIH). Así como otras complicaciones de origen cardiovascular han sido ampliamente descritas, una de las entidades más complejas y temidas, dado que ensombrece el pronóstico y la calidad de vida de estos enfermos, es la hipertensión arterial pulmonar, cuya patogenia es aún hoy poco conocida. En este artículo se revisan los aspectos más novedosos en relación a la etiopatogenia, la clínica, el diagnóstico y el tratamiento de esta enfermedad(AU)
The increase in survival that has been achieved with the new treatments in the era of highly active antiretroviral therapy, has enabled clinicians and researchers to analyze issues that emerge in the long term in patients with HIV infection. Although the majority of cardiovascular complications have been widely described, the pathogenesis of pulmonary arterial hypertension is still poorly understood, and is one of the more complex and feared complications as it worsens the prognosis and quality of life of these patients This article reviews newer aspects related to the aetiology, symptoms, diagnosis and treatment of this disease (AU)
Subject(s)
Humans , Hypertension, Pulmonary/epidemiology , HIV Infections/complications , Early Diagnosis , Risk Factors , Anti-Retroviral Agents/therapeutic use , AIDS-Related Opportunistic Infections/complicationsABSTRACT
The increase in survival that has been achieved with the new treatments in the era of highly active antiretroviral therapy, has enabled clinicians and researchers to analyze issues that emerge in the long term in patients with HIV infection. Although the majority of cardiovascular complications have been widely described, the pathogenesis of pulmonary arterial hypertension is still poorly understood, and is one of the more complex and feared complications as it worsens the prognosis and quality of life of these patients This article reviews newer aspects related to the aetiology, symptoms, diagnosis and treatment of this disease.
Subject(s)
HIV Infections/complications , Hypertension, Pulmonary/etiology , Algorithms , Humans , Hypertension, Pulmonary/diagnosis , Hypertension, Pulmonary/drug therapyABSTRACT
Changes in nutritional status, such as weight loss and malnutrition, are a very common complication in patients with chronic obstructive pulmonary disease (COPD). These changes primarily affect the patients' quality of life and functional capacity and they are also independent prognostic indicators of both morbidity and mortality. Malnutrition in these patients is due to multiple factors including increases in resting energy expenditure, decreased food intake, the effects of certain drugs, and, perhaps most importantly, a high systemic inflammatory response. The present review covers the most important facets of the prevalence, etiology, pathogenesis, and consequences of malnutrition in COPD and considers which parameters for nutritional assessment are the most satisfactory for use in routine clinical practice. The strategy used to ensure correct nutritional status in these patients is also discussed.
Subject(s)
Nutritional Status , Pulmonary Disease, Chronic Obstructive , Humans , Malnutrition/etiology , Pulmonary Disease, Chronic Obstructive/complications , Pulmonary Disease, Chronic Obstructive/diet therapy , Pulmonary Disease, Chronic Obstructive/etiologyABSTRACT
Las alteraciones nutricionales, entendidas como pérdida de peso o desnutrición, son una complicación muy frecuente en los pacientes con enfermedad pulmonar obstructiva crónica (EPOC) y afectan principalmente a su capacidad funcional y calidad de vida, además de constituir un indicador pronóstico de morbilidad y mortalidad independientes. Los factores que contribuyen a la desnutrición son múltiples; entre ellos cabe mencionar el aumento del gasto energético en reposo, el descenso de la ingesta, el efecto de determinados fármacos y, quizá el más importante, una elevada respuesta inflamatoria sistémica. En este artículo se pretende revisar los aspectos más importantes sobre la prevalencia, etiopatogenia y efectos de la desnutrición en la EPOC, además de discutir los parámetros de valoración nutricional más adecuados en la práctica clínica diaria y la estrategia para que estos pacientes mantengan un correcto estado nutricional
Changes in nutritional status, such as weight loss and malnutrition, are a very common complication in patients with chronic obstructive pulmonary disease (COPD). These changes primarily affect the patients' quality of life and functional capacity and they are also independent prognostic indicators of both morbidity and mortality. Malnutrition in these patients is due to multiple factors including increases in resting energy expenditure, decreased food intake, the effects of certain drugs, and, perhaps most importantly, a high systemic inflammatory response. The present review covers the most important facets of the prevalence, etiology, pathogenesis, and consequences of malnutrition in COPD and considers which parameters for nutritional assessment are the most satisfactory for use in routine clinical practice. The strategy used to ensure correct nutritional status in these patients is also discussed
