RESUMEN
Antisense Noncoding RNA in the INK4 Locus (ANRIL) is the prime candidate gene at Chr9p21, the well-defined genetic risk locus associated with coronary artery disease (CAD). ANRIL and its transcript variants were investigated for the susceptibility to CAD in adipose tissues (AT) and peripheral blood mononuclear cells (PBMCs) of the study group and the impact of 9p21.3 locus mutations was further analysed. Expressions of ANRIL, circANRIL (hsa_circ_0008574), NR003529, EU741058 and DQ485454 were detected in epicardial AT (EAT) mediastinal AT (MAT), subcutaneous AT (SAT) and PBMCs of CAD patients undergoing coronary artery bypass grafting and non-CAD patients undergoing heart valve surgery. ANRIL expression was significantly upregulated, while the expression of circANRIL was significantly downregulated in CAD patients. Decreased circANRIL levels were significantly associated with the severity of CAD and correlated with aggressive clinical characteristics. rs10757278 and rs10811656 were significantly associated with ANRIL and circANRIL expressions in AT and PBMCs. The ROC-curve analysis suggested that circANRIL has high diagnostic accuracy (AUC: 0.9808, cut-off: 0.33, sensitivity: 1.0, specificity: 0.88). circANRIL has high diagnostic accuracy (AUC: 0.9808, cut-off: 0.33, sensitivity: 1.0, specificity: 0.88). We report the first data demonstrating the presence of ANRIL and its transcript variants expressions in the AT and PBMCs of CAD patients. circANRIL having a synergetic effect with ANRIL plays a protective role in CAD pathogenesis. Therefore, altered circANRIL expression may become a potential diagnostic transcriptional biomarker for early CAD diagnosis.
Asunto(s)
Enfermedad de la Arteria Coronaria , ARN Largo no Codificante , Humanos , Enfermedad de la Arteria Coronaria/genética , Leucocitos Mononucleares/patología , Biomarcadores , Factores de Riesgo , Puente de Arteria Coronaria , ARN Largo no Codificante/genéticaRESUMEN
BACKGROUND: The assessment of outcomes of interventions based on the patient's perspective using patient-reported outcome measures (PROMs) has been increasingly highlighted in clinical practice. However, health related quality of life (HRQoL), one of the common constructs measured by PROMs remain unknown among patients after heart valve replacement (HVR) in Tanzania. OBJECTIVES: To assess the HRQoL amongst patients operated on for rheumatic mitral stenosis at Jakaya Kikwete Cardiac Institute (JKCI). METHODS: A prospective study of patients operated on due to rheumatic mitral stenosis at JKCI from January 2020 to April 2021 was undertaken. The HRQoL was assessed by using the MacNew questionnaire, addressing three domains (physical, emotional, and social function); the score ranges from 0 to 7. We categorized HRQoL as low (mean score ≤ 4.9), moderate (5-6) and high (> 6). We analysed several sociodemographic and clinical variables for HRQoL. RESULTS: Out of 54 patients, there were 34 females and 20 males. Their mean (± SD) age was 37.98 (± 12.58) years. The reliability of translated Kiswahili version of MacNew was good. The mean (± SD) global scores were 3.47 ± 0.59, 4.88 ± 0.71 and 6.14 ± 0.50 preoperatively, at 3 months and 6 months respectively (p-values < 0.001 preoperatively vs. 3 months, preoperatively vs. 6 months and at 3 months vs. 6 months). The median of individual mean difference HRQoL score pre-operatively and at 6 months was 2.67. The preoperative and 6 months mean difference HRQoL scores were higher among patients with vs. without atrial fibrillation (2.95 ± 0.59 vs. 2.45 ± 0.53, p = 0.003) and those on anticoagulants (preoperatively) vs. not on anticoagulants (3.14 ± 0.58 vs. 2.57 ± 0.57, 0.009). The mean difference HRQoL scores were similar for sociodemographic and other clinical parameters, including those with stroke vs. without stroke. CONCLUSION: Six months after HVR the overall MacNew HRQoL scores improved markedly. This improvement in HRQoL was regardless of the presence of comorbidities (e.g. stroke and atrial fibrillation) which underscores the importance of considering valvular surgery if they fit the criteria. Clinicians and researchers in low-resource settings should collaborate to promote the utilization of PROMs in the routine care of patients.
Asunto(s)
Fibrilación Atrial , Estenosis de la Válvula Mitral , Accidente Cerebrovascular , Masculino , Femenino , Humanos , Adulto , Persona de Mediana Edad , Estenosis de la Válvula Mitral/cirugía , Calidad de Vida , Estudios Prospectivos , Reproducibilidad de los Resultados , Tanzanía , AnticoagulantesRESUMEN
BACKGROUND: Pulmonary artery aneurysms constitute <1% of aneurysms occurring in the thoracic cavity. Congenital cardiac defects are responsible for the majority (>50%) of cases, however, pulmonary artery aneurysm is a rare sequelae of pulmonary tuberculosis reported in about 5% of patients with chronic cavitary tuberculosis on autopsy. The natural history of this potentially fatal condition remains poorly understood and guidelines for optimal management are controversial. CASE PRESENTATION: A 24-year-old man, a nursing student of African descent, was referred to us from an up-country regional hospital with a 4-week history of recurrent episodes of breathlessness, awareness of heartbeats and coughing blood 3 weeks after completing a 6-month course of anti-tuberculosis drugs. A physical examination revealed conjuctival and palmar pallor but there were no stigmata of connective tissue disorders, systemic vasculitides or congenital heart disease. An examination of the cardiovascular system revealed accentuated second heart sound (S2) with early diastolic (grade 1/6) and holosystolic (grade 2/6) murmurs at the pulmonic and tricuspid areas respectively. Blood tests showed iron deficiency anemia, prolonged bleeding time, and mild hyponatremia. A chest radiograph revealed bilateral ovoid-shaped perihilar opacities while a computed tomography scan showed bilateral multiple pulmonary artery pseudoaneurysms with surrounding hematoma together with adjacent cystic changes, consolidations, and tree-in-bud appearance. Our patient refused to undergo surgery and died of aneurismal rupture after 9 days of hospitalization. CONCLUSIONS: The presence of intractable hemoptysis among patients with tuberculosis even after completion of anti-tuberculosis course should raise an index of suspicion for pulmonary artery aneurysm. Furthermore, despite of its rarity, early recognition and timely surgical intervention of pulmonary artery aneurysm is crucial to reducing morbidity and preventing the attributed mortality.
Asunto(s)
Aneurisma Roto/diagnóstico por imagen , Aneurisma Roto/etiología , Arteria Pulmonar/diagnóstico por imagen , Tuberculosis Pulmonar/complicaciones , Aneurisma Falso/diagnóstico por imagen , Resultado Fatal , Ruidos Cardíacos , Hemoptisis/etiología , Humanos , Masculino , Radiografía , Cavidad Torácica/diagnóstico por imagen , Tomografía Computarizada por Rayos X , Negativa del Paciente al Tratamiento , Adulto JovenRESUMEN
BACKGROUND: Metastatic cardiac tumors are far more common than primary tumors. Although the hematogenous spread of osteosarcoma is well known, the imaging findings of cardiovascular involvement by osteosarcoma are seldom reported and can be difficult to recognize. CASE PRESENTATION: A 21-year-old man of African descent presented to our center complaining of shortness of breath, awareness of heart beats, easy fatigability, swelling of lower limbs, and left-side chest discomfort for the past 6 months getting worse for the last 3 months prior to his third readmission. In 2004 he was admitted with the diagnosis of osteosarcoma of his left calcaneus bone confirmed by bone biopsy and treated at an oncology center with several cycles of radiotherapy and chemotherapy; he was declared cured after 5 years of annual clinical and radiological skeletal survey follow-ups. In the current admission, a physical examination revealed bilateral lower limb swelling, pansystolic murmur on the left side of his sternum at fourth intercostal space (tricuspid area) grade three, hepatomegaly with a liver span of 17 cm, and a positive fluid test and shifting dullness. CONCLUSIONS: This case report presents a 21-year-old man with relapsed osteosarcoma manifesting as metastatic lesions to his right ventricle encroaching on his interventricular septum, which was identified by transthoracic/transesophageal echocardiography computed tomography scan and cardiac magnetic resonance imaging.