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BACKGROUND: Estimation of atherosclerotic cardiovascular disease (ASCVD) risk is a key step in cardiovascular disease (CVD) prevention, but it requires entering additional risk factor information into a computer. We developed a simplified ASCVD risk score that can be automatically calculated by the clinical laboratory when a fasting standard lipid panel is reported. METHODS: Equations for an estimated ASCVD (eASCVD) risk score were developed for 4 race/sex groups (non-Hispanic White/Black, men/women), using the following variables: total cholesterol, high-density lipoprotein cholesterol, triglycerides, and age. The eASCVD score was derived using regression analysis to yield similar risk estimates as the standard ASCVD risk equations for non-diabetic individuals not on lipid-lowering therapy in the National Health and Nutrition Examination Survey (NHANES) (n = 6027). RESULTS: At a cutpoint of 7.5%/10-year, the eASCVD risk score had an overall sensitivity of 69.1% and a specificity of 97.5% for identifying statin-eligible patients with at least intermediate risk based on the standard risk score. By using the sum of other risk factors present (systolic blood pressure >130 mmHg, blood pressure medication use, and cigarette use), the overall sensitivity of the eASCVD score improved to 93.7%, with a specificity of 92.3%. Furthermore, it showed 90% concordance with the standard risk score in predicting cardiovascular events in the Atherosclerosis Risk in Communities (ARIC) study (n = 14 742). CONCLUSIONS: Because the automated eASCVD risk score can be computed for all patients with a fasting standard lipid panel, it could be used as an adjunctive tool for the primary prevention of ASCVD and as a decision aid for statin therapy.
Assuntos
Aterosclerose , Doenças Cardiovasculares , Inibidores de Hidroximetilglutaril-CoA Redutases , Aterosclerose/tratamento farmacológico , Aterosclerose/prevenção & controle , Doenças Cardiovasculares/tratamento farmacológico , Colesterol , Técnicas de Apoio para a Decisão , Feminino , Humanos , Inibidores de Hidroximetilglutaril-CoA Redutases/uso terapêutico , Lipoproteínas HDL , Masculino , Inquéritos Nutricionais , Medição de Risco , Fatores de Risco , TriglicerídeosRESUMO
A 69-year-old male presented for an annual medical examination, and his chest X-ray showed an abnormal shadow. He presented to our hospital, and was diagnosed with typical carcinoid tumor of the lung by bronchoscopy. We recommended surgery, however the patient did not agree to the operation. One year later, two masses were detected in the liver. Ultrasound guided biopsy revealed that they were metastases from the atypical carcinoid tumor of the lung. We recommended chemotherapy, but he refused. Six months later, he was admitted to our hospital for symptoms of flushing, fever, watery diarrhea, and palpitations. We diagnosed this combination of symptoms as carcinoid syndrome, and started the administration of a long acting release (LAR) octreotide. The patient's symptoms improved, but did not resolve completely. We then performed a hepatic artery embolization for the liver metastases, and the symptoms resolved. However, viable lesions of the liver metastases slowly grew and caused a carcinoid crisis. By increasing the dosage of octreotide up to a continuous intravenous infusion of 1500µg/day, as well as LAR 30mg/4weeks, the patient recovered from the crisis. Hepatic artery embolization was performed shortly afterward. Because it was difficult to control the carcinoid syndrome by hepatic artery embolization alone, he underwent a resection of the liver metastases. After the hepatic resection, he has had no recurrence of carcinoid syndrome while still being treated with octreotide LAR.
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Tumor Carcinoide , Neoplasias Hepáticas , Neoplasias Pulmonares , Idoso , Humanos , Masculino , Recidiva Local de Neoplasia , OctreotidaRESUMO
Background: Lamin A/C (LMNA) gene mutations cause a heterogeneous group of progeroid disorders, including Hutchinson-Gilford progeria syndrome, mandibuloacral dysplasia, and atypical progeroid syndrome (APS). Five of the 31 previously reported patients with APS harbored a recurrent de novo heterozygous LMNA p.T10I mutation. All five had generalized lipodystrophy, as well as similar metabolic and clinical features, suggesting a distinct progeroid syndrome. Methods: We report nine new patients and follow-up of two previously reported patients with the heterozygous LMNA p.T10I mutation and compare their clinical and metabolic features with other patients with APS. Results: Compared with other patients with APS, those with the heterozygous LMNA p.T10I mutation were younger in age but had increased prevalence of generalized lipodystrophy, diabetes mellitus, acanthosis nigricans, hypertriglyceridemia, and hepatomegaly, together with higher fasting serum insulin and triglyceride levels and lower serum leptin and high-density lipoprotein cholesterol levels. Prominent clinical features included mottled skin pigmentation, joint contractures, and cardiomyopathy resulting in cardiac transplants in three patients at ages 13, 33, and 47 years. Seven patients received metreleptin therapy for 0.5 to 16 years with all, except one noncompliant patient, showing marked improvement in metabolic complications. Conclusions: Patients with the heterozygous LMNA p.T10I mutation have distinct clinical features and significantly worse metabolic complications compared with other patients with APS as well as patients with Hutchinson-Gilford progeria syndrome. We propose that they be recognized as having generalized lipodystrophy-associated progeroid syndrome. Patients with generalized lipodystrophy-associated progeroid syndrome should undergo careful multisystem assessment at onset and yearly metabolic and cardiac evaluation, as hyperglycemia, hypertriglyceridemia, hepatic steatosis, and cardiomyopathy are the major contributors to morbidity and mortality.
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Lamina Tipo A/genética , Lipodistrofia Generalizada Congênita/genética , Mutação , Progéria/genética , Absorciometria de Fóton/métodos , Adolescente , Adulto , Antropometria/métodos , Criança , Feminino , Humanos , Lipodistrofia Generalizada Congênita/metabolismo , Lipodistrofia Generalizada Congênita/patologia , Imageamento por Ressonância Magnética/métodos , Masculino , Pessoa de Meia-Idade , Miocárdio/patologia , Fenótipo , Progéria/metabolismo , Progéria/patologiaRESUMO
Apolipoprotein C-II (apoC-II) is a small exchangeable apolipoprotein found on triglyceride-rich lipoproteins (TRL), such as chylomicrons (CM) and very low-density lipoproteins (VLDL), and on high-density lipoproteins (HDL), particularly during fasting. ApoC-II plays a critical role in TRL metabolism by acting as a cofactor of lipoprotein lipase (LPL), the main enzyme that hydrolyses plasma triglycerides (TG) on TRL. Here, we present an overview of the role of apoC-II in TG metabolism, emphasizing recent novel findings regarding its transcriptional regulation and biochemistry. We also review the 24 genetic mutations in the APOC2 gene reported to date that cause hypertriglyceridemia (HTG). Finally, we describe the clinical presentation of apoC-II deficiency and assess the current therapeutic approaches, as well as potential novel emerging therapies.
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Apolipoproteína C-II/genética , Apolipoproteína C-II/metabolismo , Triglicerídeos/metabolismo , Animais , Apolipoproteína C-II/deficiência , Quilomícrons/metabolismo , Regulação da Expressão Gênica , Humanos , Hidrólise , Mucosa Intestinal/metabolismo , Lipólise , Lipase Lipoproteica/metabolismo , Lipoproteínas/metabolismo , Lipoproteínas HDL/sangue , Lipoproteínas VLDL/metabolismo , Fígado/metabolismo , Macrófagos/metabolismo , Camundongos , Família Multigênica , Mutação , Ratos , Transcrição GênicaRESUMO
OBJECTIVES: This study aimed to build a prediction score of prognosis for patients with advanced hepatocellular carcinoma (HCC) after sorafenib treatment. METHODS: A total of 165 patients with advanced HCC who were treated with sorafenib were analyzed. Readily available baseline factors were used to establish a scoring system for the prediction of survival. RESULTS: The median survival time (MST) was 14.2 months. The independent prognostic factors were C-reactive protein (CRP) <1.0 mg/dL [hazard ratio (HR) =0.51], albumin >3.5 g/dL (HR =0.55), alpha-fetoprotein <200 ng/mL (HR =0.45), and a lack of major vascular invasion (HR =0.39). Each of these factors had a score of 1, and after classifying the patients into five groups, the total scores ranged from 0 to 4. Higher scores were linked to significantly longer survival (p<0.0001). Twenty-nine patients (17.6%) with a score of 4 had a MST as long as 36.5 months, whereas MST was as short as 2.4 and 3.7 months for seven (4.2%) and 22 (13.3%) patients with scores of 0 and 1, respectively. CONCLUSIONS: A novel prognostic scoring system, which includes the CRP level, has the ability to stratify the prognosis of patients with advanced stage HCC after treatment with sorafenib.
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AIM: For patients receiving endoscopic submucosal dissection (ESD), there is urgent need pertaining to the prevention of postoperative bleeding. We conducted a retrospective propensity score-matched study that evaluated whether pre-ESD gastric lavage prevents postoperative bleeding after ESD for gastric neoplasms. METHODS: From September 2002 to October 2015, the 760 consecutive patients receiving ESD for gastric neoplasm were enrolled and data regarding them were retrospectively analyzed. All patients received conventional preventive treatment against delayed bleeding after ESD, including the administration of proton pump inhibitor and preventive coagulation of visible vessels, at the end of the ESD procedure. RESULTS: Pre-ESD risk factors for postoperative bleeding included tumor size and no gastric lavage. Using multivariate analysis tumor size >2.0 cm (HR 2.90, 95% CI 1.65-5.10, p = 0.0002) and no gastric lavage (HR 3.20, 95% CI 1.13-9.11, p = 0.029) were found to be independent risk factors. Next, we evaluated the effect of gastric lavage on the prevention of post-ESD bleeding using a propensity score-matching method. A total of 284 subjects (142 per group) were selected. Adjusted odds ratio of gastric lavage for post-ESD bleeding was 0.25 (95% CI 0.071-0.886, p = 0.032). CONCLUSION: Pretreatment gastric lavage reduced postoperative bleeding in patients receiving ESD for gastric neoplasm.
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Lavagem Gástrica/métodos , Mucosa Gástrica/cirurgia , Gastroscopia/métodos , Hemorragia Pós-Operatória/prevenção & controle , Neoplasias Gástricas/cirurgia , Idoso , Idoso de 80 Anos ou mais , Dissecação/métodos , Feminino , Mucosa Gástrica/patologia , Humanos , Masculino , Razão de Chances , Estudos Retrospectivos , Fatores de Risco , Neoplasias Gástricas/patologiaRESUMO
Cystinosis, an autosomal recessive disorder of lysosomal cystine accumulation, results from mutations in the CTNS gene that encodes the lysosomal cystine transporter, cystinosin. Renal tubular Fanconi syndrome occurs in infancy, followed by rickets, growth retardation, photophobia, and renal failure, which requires renal transplantation at approximately 10 yr of age. Treatment with cysteamine decreases cellular cystine levels, retards renal deterioration, and allows for normal growth. Patients with a history of inadequate cystine depletion therapy may survive, after renal transplantation, into the third to fifth decades but will experience other, extrarenal complications of the disease. Routine chest and head computed tomography scans of 41 posttransplantation patients with cystinosis were reviewed for vascular calcification. The radiologic procedures had been performed to examine lung and brain parenchyma, so there was little ascertainment bias. Thirteen of the 41 patients had vascular calcification, including 11 with coronary artery calcification. One 25-yr-old man required three-vessel coronary artery bypass graft surgery. There were no significant differences between the 13 patients with calcification and the 28 without calcification in the following parameters: Time on dialysis, frequency of transplantation, hypertension, hypercholesterolemia, homozygosity for the 57-kb deletion in CTNS, serum creatinine, and calcium-phosphate product. However, the finding of vascular calcification correlated directly with duration of life without cysteamine therapy and inversely with duration of life under good cystine-depleting therapy. The accumulation of intracellular cystine itself maybe a risk factor for vascular calcifications, and older patients with cystinosis should be screened for this complication.
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Calcinose/diagnóstico por imagem , Calcinose/etiologia , Doença da Artéria Coronariana/diagnóstico por imagem , Doença da Artéria Coronariana/etiologia , Cistinose/etiologia , Transplante de Rim/efeitos adversos , Tomografia Computadorizada por Raios X , Adolescente , Adulto , Criança , Feminino , Humanos , Masculino , Pessoa de Meia-IdadeRESUMO
We report the excellent clinical outcomes of siblings with nephropathic cystinosis treated diligently with cysteamine starting at 20 months and 2 months of age. Now 15 and 8 years old, they have glomerular filtration rates of 78 and 105 mL/min/1.73m 2 , respectively. These cases illustrate the critical importance of early diagnosis and treatment.