RESUMO
The efficacy and safety of direct oral anticoagulants (DOAC) in patients with embolic stroke of undetermined source (ESUS) remains unclear. We systematically searched PubMed, Embase, and Cochrane Library for randomized controlled trials (RCT) comparing DOACs versus aspirin in patients with ESUS. Risk ratios (RR) and 95% confidence intervals (CI) were computed for binary endpoints. Four RCTs comprising 13,970 patients were included. Compared with aspirin, DOACs showed no significant reduction of recurrent stroke (RR 0.95; 95% CI 0.84-1.09; p = 0.50; I2 = 0%), ischemic stroke or systemic embolism (RR 0.97; 95% CI 0.80-1.17; p = 0.72; I2 = 0%), ischemic stroke (RR 0.92; 95% CI 0.79-1.06; p = 0.23; I2 = 0%), and all-cause mortality (RR 1.11; 95% CI 0.87-1.42; p = 0.39; I2 = 0%). DOACs increased the risk of clinically relevant non-major bleeding (CRNB) (RR 1.52; 95% CI 1.20-1.93; p < 0.01; I2 = 7%) compared with aspirin, while no significant difference was observed in major bleeding between groups (RR 1.57; 95% CI 0.87-2.83; p = 0.14; I2 = 63%). In a subanalysis of patients with non-major risk factors for cardioembolism, there is no difference in recurrent stroke (RR 0.98; 95% CI 0.67-1.42; p = 0.90; I2 = 0%), all-cause mortality (RR 1.24; 95% CI 0.58-2.66; p = 0.57; I2 = 0%), and major bleeding (RR 1.00, 95% CI 0.32-3.08; p = 1.00; I2 = 0%) between groups. In patients with ESUS, DOACs did not reduce the risk of recurrent stroke, ischemic stroke or systemic embolism, or all-cause mortality. Although there was a significant increase in clinically relevant non-major bleeding, major bleeding was similar between DOACs and aspirin.
Assuntos
Anticoagulantes , Aspirina , AVC Embólico , Humanos , AVC Embólico/etiologia , Aspirina/efeitos adversos , Aspirina/administração & dosagem , Aspirina/uso terapêutico , Anticoagulantes/efeitos adversos , Anticoagulantes/uso terapêutico , Anticoagulantes/administração & dosagem , Administração Oral , Ensaios Clínicos Controlados Aleatórios como Assunto , Hemorragia/induzido quimicamente , RecidivaRESUMO
Carotid web (CW) is considered a variant of intimal fibromuscular dysplasia. CW represents between 9.4% and 37% of ischemic strokes that were initially misclassified as "cryptogenic." However, in Latin America, there is a lack of detection. We present 5 cases of ischemic stroke due to CW and discuss the usefulness of multiplanar reformatting (MPR) imaging in computed tomography angiography. The identification of CW with the use of tridimensional (3D) reconstructions and maximum intensity projection was 20%, the rest was misdiagnosed as atherosclerotic plaque. With the MPR, the identification of typical CW findings was improved, such as a thin septum, a shelf-like image, and a mountain shadow-like image. However, one must be alert to changes in the 3D disposition of the carotid bifurcation, as they may mask the typical CW findings. A good practice is to align the internal carotid artery exactly posterior to the external carotid artery in the sagittal plane.
Assuntos
Humanos , Feminino , Pessoa de Meia-Idade , Artérias Carótidas , Trombose das Artérias CarótidasRESUMO
Introduction: Organizing pneumonia is a rare clinico-pathological syndrome. This crypto-genic or secondary condition is of unknown origin, and may be infectious, or associated with autoimmune diseases, cancer, drugs, or radiation. Case description: The case is presented of a 52-year-old patient who was diagnosed with organizing pneumonia secondary to anti-synthetase syndrome. Discussion: It is intended to make known that not all pulmonary consolidative clinical pictures correspond to infectious processes. In this case, an organizing pneumonia secondary to anti-synthetase syndrome is documented. Despite being a disorder that is classified as an idiopathic inflammatory myopathy, it manifests as an interstitial lung disease with predominantly respiratory symptoms.
Introducción: La neumonía organizativa es un síndrome clínico-patológico poco frecuente, dentro del cual se desconoce la etiología de la denominada neumonía criptogénica o secundaria, que puede ser infecciosa o asociada con enfermedades autoinmunes, cáncer, fármacos o radiación. Descripción del caso: Se presenta el caso de una paciente de 52 arios a quien se le diagnostica neumonía organizativa secundaria a síndrome antisintetasa. Discusión: Se busca dar a conocer que no todos los cuadros clínicos de consolidación pulmonar corresponden a procesos infecciosos. En este caso se documentó una neumonía organizativa secundaria a síndrome antisintetasa, la cual a pesar de ser una patología que se cataloga como una miopatía inflamatoria idiopática, se manifestó como una enfermedad pulmonar intersticial con síntomas predominantemente respiratorios.
Assuntos
Humanos , Pessoa de Meia-Idade , Doenças Respiratórias , Broncopatias , Pneumonia em Organização CriptogênicaRESUMO
Resumen La neumonía en organización es un tipo de enfermedad pulmonar intersticial difusa que puede ser idiopática (criptogénica) o secundaria a numerosas etiologías, y se asocia con hallazgos clínicos y de laboratorio inespecíficos. Su diagnóstico y tratamiento exigen un equipo interdisciplinario, en el que las imágenes desempeñan un papel indispensable. Se presenta una serie de nueve casos, haciendo énfasis en las características clínicas y profundizando en los diversos patrones imagenológicos identificados. También se aporta una revisión de las variantes recientemente descritas.
Abstract Organizing pneumonia is a type of diffuse interstitial lung disease that can be idiopathic (cryptogenic) or secondary to numerous etiologies, and is an entity associated with nonspecific clinical and laboratory findings. Its diagnosis and treatment require an interdisciplinary team in which images play an indispensable role. The presentation of a series of nine cases is made, emphasizing the clinical characteristics and delving into the various identified imaging patterns. A review of the recently described variants is also provided.
RESUMO
Abstract BACKGROUND: Prevention of recurrence of stroke depends on recognition of the underlying mechanism of ischemia. OBJECTIVE: To screen patients who were hospitalized with diagnosis of acute ischemic stroke in terms of atrial fibrillation (AF) with repeated Holter electrocardiography recordings. DESIGN AND SETTING: Prospective study conducted at Konya Education and Research Hospital, Turkey. METHODS: Patients with a diagnosis of acute ischemic stroke, without atrial fibrillation on electrocardiography (ECG), were evaluated. Their age, gender, histories of previous ischemic attack, occurrences of paroxysmal atrial fibrillation (PAF) and other risks were assessed during the first week after acute ischemic stroke and one month thereafter. ECG recordings were obtained from 130 patients through 24-hour ambulatory Holter. Patients without PAF attack during the first Holter were re-evaluated. RESULTS: PAF was detected through the first Holter in 33 (25.4%) out of 130 acute ischemic stroke patients. A second Holter was planned for 97 patients: 53 (54.6%) of them could not attend due to COVID-19 pandemic; while 44 (45.3%) patients had the second Holter and, among these, 4 (9.1%) had PAF. The only parameter associated with PAF was older age. Four (10.8%) of the 37 patients with PAF had also symptomatic carotid stenosis. CONCLUSIONS: Detecting the presence of PAF by screening patients with no AF in the ECG through Holter ECG examinations is valuable in terms of changing the course of the treatment. It should be kept in mind that the possibility of accompanying PAF cannot be ruled out in the presence of other factors that pose a risk of stroke.
Assuntos
Humanos , Fibrilação Atrial/complicações , Fibrilação Atrial/epidemiologia , Acidente Vascular Cerebral/complicações , AVC Isquêmico , COVID-19 , Estudos Prospectivos , Fatores de Risco , Eletrocardiografia Ambulatorial/efeitos adversos , PandemiasRESUMO
Objective: To systematically review and compare the overall (OS) and disease-free (DFS) survival after hepatic resections for hepatocellular carcinoma (HCC) of patients with nonalcoholic fatty liver disease (NAFLD) versus other risk factors. Background: Different clinical and tumor characteristics are associated with HCC in the setting of NAFLD in comparison to other risk factors. It is still unclear whether these differences impact patient survival after radical hepatectomies. Methods: Randomized controlled trials and observational studies published in the English literature between July 1980 and June 2020 were searched using multiple databases. Patients' baseline characteristics and the hazard ratios (HRs) of the OS and DFS were extracted and meta-analyses were performed. Results: Fifteen retrospective cohort studies with a total of 7226 patients were included. Among them, 1412 patients (19.5%) had NAFLD and 5814 (80.4%) had other risk factors (eg, viral hepatitis B or C, alcoholic cirrhosis, or cryptogenic cirrhosis). Summary statistics showed that patients with NAFLD had better DFS (HR = 0.81; 95% CI: 0.70-0.94; P = 0.006) and OS (HR = 0.78; 95% CI: 0.67-0.90; P = 0.001) than the control group. Subgroups analyses also indicated that the OS favored NAFLD patients versus patients with viral hepatitis B or C (HR = 0.80; 95% CI: 0.67-0.96; P = 0.017) or alcoholic and cryptogenic cirrhosis (HR = 0.68; 95% CI: 0.47-1.0; P = 0.05). Conclusion: After hepatic resections for HCC, NAFLD patients have better DFS and OS than patients with other risk factors. Subgroup analysis and meta-regression suggested that the survival advantage of NAFLD patients was more pronounced in studies published after 2015 and from Asian centers.
RESUMO
OBJECTIVE: This study evaluated the risk of subclinical atrial fibrillation (AF) in patients with central retinal artery occlusion (CRAO) compared to those with cryptogenic stroke using implantable loop recorders (ILR). METHODS: We conducted a retrospective analysis of 273 consecutive patients who had ILRs inserted at our institution for either cryptogenic stroke (n = 227) or CRAO (n = 46). Our primary endpoint was a time to event analysis for the new diagnosis of AF by ILR. Univariable and multivariable Cox proportional hazard models were used to determine the predictors of time-to-AF. RESULTS: A total of 64 patients were found to have newly diagnosed AF by remote monitoring of the ILR. AF was detected in 57 of 227 (25%) cryptogenic stroke patients by the end of a maximum 5.1 years follow-up and in seven of 46 (15%) CRAO patients by the end of a maximum 3.6 years follow-up (P = .215, log-rank test). The Kaplan-Meier estimates for freedom from AF was 59.4% for CRAO and 66.6% for cryptogenic stroke (P = NS, log-rank test). Baseline variables predicting AF included older patients, higher CHADS2 VASC score, longer PR interval on initial EKG evaluation, and mitral annular calcification on transthoracic echocardiogram. CONCLUSIONS: Patients with CRAO are at risk for subclinical AF, similar to those with cryptogenic stroke. Long-term monitoring to detect AF may lead to changes in pharmacotherapy to reduce the risk for subsequent stroke.
Assuntos
Fibrilação Atrial/etiologia , Eletrocardiografia Ambulatorial/instrumentação , Oclusão da Artéria Retiniana/complicações , Acidente Vascular Cerebral/etiologia , Acidente Vascular Cerebral/fisiopatologia , Idoso , Fibrilação Atrial/fisiopatologia , Ecocardiografia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Fatores de RiscoRESUMO
Lysosomal acid lipase deficiency is a genetic disease with a low prevalence and high morbidity and mortality in children and adults. It is characterized by an alteration of lipid metabolism, which generates cholesterol and triglyceride esters deposits in the body. Its clinical presentation depends on enzymatic activity. This condition should be suspected in patients with lipid or liver alterations after ruling out other diagnoses. Currently, there is the option of using a recombinant enzyme, which can improve lipid and liver parameters, as well as disease progression. Establishing a timely diagnosis in order to initiate specific treatment early is imperative for the prevention of morbidity and mortality. The purpose of this work is to perform a review of the literature about lysosomal acid lipase deficiency and to guide about its pathophysiology, clinical manifestations, diagnosis and treatment.
El déficit de lipasa ácida lisosomal es una enfermedad genética poco prevalente, con alta morbimortalidad en niños y adultos. Se caracteriza por alteración del metabolismo lipídico que genera depósitos de ésteres de colesterol y triglicéridos en el organismo. La presentación clínica depende de la actividad enzimática. Se debe sospechar en pacientes con alteraciones lipídicas o alteraciones hepáticas después de descartar otros diagnósticos. Actualmente existe la opción de utilizar enzima recombinante, la cual puede mejorar los parámetros lipídicos y hepáticos, así como detener la progresión de la enfermedad. Es imperioso realizar el diagnóstico oportuno para iniciar de forma temprana el tratamiento específico, con el fin de prevenir la morbimortalidad. Se llevó a cabo revisión de la literatura en torno del déficit de lipasa ácida lisosomal, para orientar acerca de su fisiopatología, manifestaciones clínicas, diagnóstico y tratamiento.
Assuntos
Metabolismo dos Lipídeos , Doença de Wolman/epidemiologia , Adulto , Criança , Progressão da Doença , Humanos , Prevalência , Doença de Wolman/diagnóstico , Doença de Wolman/fisiopatologia , Doença de WolmanRESUMO
Resumen El déficit de lipasa ácida lisosomal es una enfermedad genética poco prevalente, con alta morbimortalidad en niños y adultos. Se caracteriza por alteración del metabolismo lipídico que genera depósitos de ésteres de colesterol y triglicéridos en el organismo. La presentación clínica depende de la actividad enzimática. Se debe sospechar en pacientes con alteraciones lipídicas o alteraciones hepáticas después de descartar otros diagnósticos. Actualmente existe la opción de utilizar enzima recombinante, la cual puede mejorar los parámetros lipídicos y hepáticos, así como detener la progresión de la enfermedad. Es imperioso realizar el diagnóstico oportuno para iniciar de forma temprana el tratamiento específico, con el fin de prevenir la morbimortalidad. Se llevó a cabo revisión de la literatura en torno del déficit de lipasa ácida lisosomal, para orientar acerca de su fisiopatología, manifestaciones clínicas, diagnóstico y tratamiento.
Abstract Lysosomal acid lipase deficiency is a genetic disease with a low prevalence and high morbidity and mortality in children and adults. It is characterized by an alteration of lipid metabolism, which generates cholesterol and triglyceride esters deposits in the body. Its clinical presentation depends on enzymatic activity. This condition should be suspected in patients with lipid or liver alterations after ruling out other diagnoses. Currently, there is the option of using a recombinant enzyme, which can improve lipid and liver parameters, as well as disease progression. Establishing a timely diagnosis in order to initiate specific treatment early is imperative for the prevention of morbidity and mortality. The purpose of this work is to perform a review of the literature about lysosomal acid lipase deficiency and to guide about its pathophysiology, clinical manifestations, diagnosis and treatment.
Assuntos
Humanos , Criança , Adulto , Doença de Wolman/epidemiologia , Metabolismo dos Lipídeos , Doença de Wolman/diagnóstico , Doença de Wolman/fisiopatologia , Prevalência , Progressão da DoençaRESUMO
We report a 64 years old female admitted with fever, cough, dyspnea and lung opacities in the chest X ray. A chest tomography scan (CTS) showed multiple-bilateral ring-shaped opacities and the reversed halo sign (RHS). The patient did not improve with antimicrobial therapy (AT). Infection and rheumatologic causes were excluded, therefore Cryptogenic organizing pneumonia (COP) was suspected with compatible percutaneous biopsy. Systemic steroids were started with a good clinical response. The patient was discharged four weeks after admission in good general conditions and practically no lungs opacities.
Assuntos
Humanos , Feminino , Pessoa de Meia-Idade , Pneumonia em Organização Criptogênica/patologia , Pneumonia em Organização Criptogênica/diagnóstico por imagem , Biópsia , Prednisona/uso terapêutico , Radiografia Torácica , Tomografia Computadorizada por Raios X , Pneumonia em Organização Criptogênica/tratamento farmacológico , Glucocorticoides/uso terapêutico , Pulmão/patologia , Pulmão/diagnóstico por imagemRESUMO
Growing coastal urbanization together with the intensification of maritime traffic are major processes explaining the increasing rate of biological introductions in marine environments. To investigate the link between international maritime traffic and the establishment of non-indigenous species (NIS) in coastal areas, biofouling communities in three international and three nearby local ports along 100 km of coastline in south-central Chile were compared using settlement panels and rapid assessment surveys. A larger number of NIS was observed in international ports, as expected in these 'invasion hubs'. However, despite a few environmental differences between international and local ports, the two port categories did not display significant differences regarding NIS establishment and contribution to community structure over the studied period (1.5 years). In international ports, the free space could be a limiting factor for NIS establishment. The results also suggest that local ports should be considered in NIS surveillance programs in Chile.
Assuntos
Incrustação Biológica/estatística & dados numéricos , Espécies Introduzidas/estatística & dados numéricos , Animais , Chile , NaviosRESUMO
INTRODUCTION AND AIM: Multiple prognostic scores are available for acute liver failure (ALF). Our objective was to compare the dynamicity of model for end stage liver disease (MELD), MELD-sodium, acute liver failure early dynamic model (ALFED), chronic liver failure (CLIF)-consortium ACLF score and King's College Hospital Criteria (KCH) for predicting outcome in ALF. MATERIALS AND METHODS: All consecutive patients with ALF at a tertiary care centre in India were included. MELD, MELD-Na, ALFED, CLIF-C ACLF scores and KCH criteria were calculated at admission and day 3 of admission. Area under receiver operator characteristic curves (AUROC) were compared with DeLong method. The sensitivity, specificity, positive predictive value (PPV), negative predictive value (NPV), likelihood ratio (LR) and diagnostic accuracy (DA) were reported. RESULTS: Of the 115 patients included in the study, 73 (63.5%) died. The discrimination of mortality with baseline values of prognostic scores (MELD, MELD-Na, ALFED, CLIF-C ACLF and KCH) was modest (AUROC: 0.65-0.77). The AUROC increased on day 3 for all scores, except KCH criteria. On day 3 of admission, ALFED score had the highest AUROC 0.95, followed by CLIF-C ACLF 0.88, MELD 0.81, MELD-Na 0.77 and KCH 0.52. The AUROC for ALFED was significantly higher than MELD, MELD-Na and KCH (P < 0.001 for all) and CLIF-C ACLF (P = 0.05). ALFED score ≥ 4 on day 3 had the best sensitivity (87.1%), specificity (89.5%), PPV (93.8%), NPV (79.1%), LR positive (8.3) and DA (87.9%) for predicting mortality. CONCLUSIONS: Dynamic assessment of prognostic scores better predicts outcome. ALFED model performs better than MELD, MELD, MELD-Na, CLIF-C ACLF scores and KCH criteria for predicting outcome in viral hepatitis- related ALF.
Assuntos
Técnicas de Apoio para a Decisão , Hepatite B/diagnóstico , Hepatite E/diagnóstico , Falência Hepática Aguda/diagnóstico , Adulto , Progressão da Doença , Feminino , Hepatite B/mortalidade , Hepatite B/terapia , Hepatite B/virologia , Hepatite E/mortalidade , Hepatite E/terapia , Hepatite E/virologia , Mortalidade Hospitalar , Humanos , Índia , Falência Hepática Aguda/mortalidade , Falência Hepática Aguda/terapia , Falência Hepática Aguda/virologia , Masculino , Admissão do Paciente , Valor Preditivo dos Testes , Prognóstico , Estudos Prospectivos , Reprodutibilidade dos Testes , Medição de Risco , Fatores de Risco , Fatores de Tempo , Adulto JovemRESUMO
PURPOSE: The objective of this study was to identify and describe the comorbidities, clinical features, and prognostic implications of cancer patients with cerebrovascular disease. MATERIALS AND METHODS: All patients with cerebrovascular disease (CVD) seen in the neuro-oncology unit at a cancer referral center from April 2010 to November 2016 were included; demographic, oncologic diagnosis, risk factors, and prognostic considerations were presented as well. RESULTS: We report on 256 patients with CVD and cancer, of whom 66% were women. The mean age at the time CVD occurred was 56 years. The most frequently associated malignancies were gynecologic (including breast cancer), hematologic, head and neck, and urologic. The men had more smoking and alcohol consumption history, hemorrhagic CVD, and urologic and hematologic malignancies. The women, besides gynecologic cancer, had more ischemic CVD. Thrombotic CVD, followed by embolic and hemorrhagic CVDs, was more frequent. A comorbid condition besides cancer was found in 71% of the patients. The most frequent clinical presentation was focal motor weakness, altered mental status, and aphasia. The 10-year mortality was 59%; higher rates were found in men, in those with hemorrhagic CVD, in tobacco users, and in those with altered mental status. CONCLUSIONS: Cancer is a well-known risk factor for stroke, which has been associated with a higher frequency in cancer. We found that ischemic stroke due to thrombosis and cardioembolism was more common, and gender, comorbidities, clinical presentation, and type of CVD, but not cancer type, were elements associated with prognosis.
Assuntos
Embolia Intracraniana/epidemiologia , Trombose Intracraniana/epidemiologia , Neoplasias/epidemiologia , Acidente Vascular Cerebral/epidemiologia , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Afasia/epidemiologia , Afasia/psicologia , Comorbidade , Bases de Dados Factuais , Feminino , Nível de Saúde , Humanos , Embolia Intracraniana/diagnóstico , Embolia Intracraniana/fisiopatologia , Embolia Intracraniana/psicologia , Trombose Intracraniana/diagnóstico , Trombose Intracraniana/fisiopatologia , Trombose Intracraniana/psicologia , Masculino , Saúde Mental , México/epidemiologia , Pessoa de Meia-Idade , Atividade Motora , Debilidade Muscular/epidemiologia , Debilidade Muscular/fisiopatologia , Neoplasias/diagnóstico , Prognóstico , Fatores de Risco , Fatores Sexuais , Acidente Vascular Cerebral/diagnóstico , Acidente Vascular Cerebral/fisiopatologia , Acidente Vascular Cerebral/psicologia , Fatores de Tempo , Adulto JovemRESUMO
Resumen Introducción: En pacientes con ictus isquémico criptogénico se ha descrito una alta prevalencia de alteraciones del septum auricular relacionadas con un riesgo aumentado de presentar recurrencia. Objetivo: Presentar la historia clínica de un paciente joven con antecedente de diabetes mellitus e ictus isquémico en el que no se demuestran alteraciones arteriales. A partir de la realización de un estudio de Doppler trasncraneal con test de burbujas se diagnostica un foramen oval permeable. Conclusión: En el paciente que describimos, la realización de un estudio de DTC como parte de la evaluación inicial ayudó a precisar la etiología. La demostración de un foramen ovale permeable tiene implicaciones en la prevención secundaria del ictus.
Abstract Introduction: A high prevalence of atrial septal defects is reported in patients with cryptogenic ischemic stroke, also related to an increase of the risk of recurrence. Objective: To report case of a young patient with a history of diabetes mellitus and ischemic stroke without arterial changes proven. A transcraneal Doppler study with a bubble test helped to diagnose a patent foramen ovale. Conclusion: As part of the initial evaluation of this patient, a TCD study has helped to clarify the stroke etiology. The demonstration of a patent foramen ovale has implications for the secondary prevention of stroke.
RESUMO
The association of cerebral ischemic attack with patent foramen ovale has not been extensively studied, and frequently the site of origin of embolism is not detected despite routine studies. We present the case of a young patient with ischemic stroke and permeable oval foramen in the context of May Thurner syndrome. The May Thurner syndrome is an entity scarcely studied in the medical literature and it has also been infrequently related to ischemic vascular cerebral accident, but in patients with permeable oval foramen without evidence of the emboligen source, it is interesting to rule it out as a cause of paradoxical embolism.
Assuntos
Forame Oval Patente/complicações , Síndrome de May-Thurner/complicações , Acidente Vascular Cerebral/complicações , Adulto , Forame Oval Patente/diagnóstico por imagem , Humanos , Angiografia por Ressonância Magnética , Masculino , Síndrome de May-Thurner/diagnóstico por imagem , Acidente Vascular Cerebral/diagnóstico por imagemRESUMO
Sitosterolemia is an autosomal recessive metabolic disease caused by mutations in ABCG5 or ABCG8 genes which encode for the (ATP)-binding cassette (ABC) transporters that are responsible for the trafficking of xenosterols. Liver involvement is not a recognized manifestation of this disease, and cirrhosis has been reported only once in the medical literature. We describe a fatal case of a 21-year old South Asian male who presented with decompensated cirrhosis, and biochemical abnormalities consistent with sitosterolemia. Genetic testing showed a homozygous pathogenic mutation in ABCG5, confirming the diagnosis. Sitosterolemia is a rare, but likely under-recognized condition, and a high degree of suspicion is imperative to make the diagnosis. We propose that sitosterolemia should be included in the differential diagnosis for patients with cryptogenic cirrhosis, especially as there are effective oral therapies to treat this condition. Newly diagnosed sitosterolemia patients should undergo a thorough hepatology evaluation and follow-up to evaluate for the presence, development, and progression of any hepatic involvement.
Assuntos
Hipercolesterolemia/complicações , Enteropatias/complicações , Erros Inatos do Metabolismo Lipídico/complicações , Cirrose Hepática/etiologia , Fitosteróis/efeitos adversos , Membro 5 da Subfamília G de Transportadores de Cassetes de Ligação de ATP/genética , Anemia Hemolítica/etiologia , Anticolesterolemiantes/uso terapêutico , Biópsia , Angiografia Coronária , Doença da Artéria Coronariana/etiologia , Análise Mutacional de DNA , Dieta com Restrição de Gorduras , Ezetimiba/uso terapêutico , Evolução Fatal , Predisposição Genética para Doença , Hereditariedade , Homozigoto , Humanos , Hipercolesterolemia/diagnóstico , Hipercolesterolemia/genética , Hipercolesterolemia/terapia , Enteropatias/diagnóstico , Enteropatias/genética , Enteropatias/terapia , Erros Inatos do Metabolismo Lipídico/diagnóstico , Erros Inatos do Metabolismo Lipídico/genética , Erros Inatos do Metabolismo Lipídico/terapia , Lipoproteínas/genética , Cirrose Hepática/diagnóstico , Masculino , Microscopia Eletrônica , Mutação , Linhagem , Fenótipo , Fitosteróis/genética , Fatores de Risco , Resultado do Tratamento , Xantomatose/etiologia , Adulto JovemRESUMO
La asociación de accidente cerebral isquémico con foramen oval permeable, no ha sido extensamente estudiada, y frecuentemente el sitio de origen de la embolia no se detecta a pesar de los estudios de rutina. Se presenta el caso de un paciente joven con accidente cerebral vascular isquémico y foramen oval permeable en el contexto de síndrome de May Thurner. El síndrome de May Thurner es una entidad poco estudiada en la literatura médica y además se lo ha relacionado poco con accidente cerebral vascular isquémico, pero en pacientes con foramen oval permeable sin evidencia de la fuente embolígena, es interesante descartarlo como causa de embolia paradojal.
The association of cerebral ischemic attack with patent foramen ovale has not been extensively studied, and frequently the site of origin of embolism is not detected despite routine studies. We present the case of a young patient with ischemic stroke and permeable oval foramen in the context of May Thurner syndrome. The May Thurner syndrome is an entity scarcely studied in the medical literature and it has also been infrequently related to ischemic vascular cerebral accident, but in patients with permeable oval foramen without evidence of the emboligen source, it is interesting to rule it out as a cause of paradoxical embolism.
Assuntos
Humanos , Masculino , Adulto , Acidente Vascular Cerebral/complicações , Forame Oval Patente/complicações , Síndrome de May-Thurner/complicações , Angiografia por Ressonância Magnética , Acidente Vascular Cerebral/diagnóstico por imagem , Forame Oval Patente/diagnóstico por imagem , Síndrome de May-Thurner/diagnóstico por imagemRESUMO
RESUMEN La enfermedad de Fabry es una enfermedad genética con herencia ligada al cromosoma X recesiva, en la que se encuentra afectada la actividad de la enzima lisosomal a-galactosidasa A (GLA), con acumulación de diferentes metabolitos como la globotriaosilceramida (GL 3) y la globotriaosilceramida deacilada (liso GL 3), responsables de la disfunción multiorgánica y de las diversas manifestaciones fenotípicas, comprometiendo principalmente: sistema nervioso, piel tracto gastrointestinal, corazón y riñón. La manifestación neurológica más temprana es el dolor neuropático, sin embargo se pueden encontrar síntomas gastrointestinales, en piel y ojo, mientras que el daño renal y cardiaco se presentan como manifestaciones tardías al igual que el ataque cerebrovascular (ACV) que se presenta en la adultez. A continuación presentamos dos casos clínicos de pacientes con ACV criptogénico con mutaciones hetero-cigotas en el gen de la a-galactosidasa A
SUMMARY Fabry's disease is a recessive X linked genetic disorder in which lysosomal enzyme alpha-galactosidase A activity is affected, with accumulation of different kind of metabolites such as globotriaosylceramide and the deacylated globotriaosylceramide which are responsible for the multi-organ dysfunction that is seen in this disease, and also of the several phenotypic manifestations, mainly in nervous system, skin, gastrointestinal tract, heart and kidney. Earlier neurological manifestation is neuropathic pain could finding also gastrointestinal tract, skin and eye complaints while Cardiac and renal damage present later like as cerebrovascular disease which presents in adulthood. Two clinical cases of young patients with cryptogenic stroke with heterozygous mutations for Fabry's disease are presenting below.
Assuntos
Cromossomo X , Doença de Fabry , alfa-GalactosidaseRESUMO
Sabellids and serpulids are two well represented families in the polychaete fauna of the Tropical Eastern Pacific, with 31 and 34 species respectively; however, most records come from the Gulf of California or the western coast of Baja California Peninsula. Only a few records are from localities in the large expanse of the central and southern Mexican Pacific. Thus, sabellids and serpulids were collected from several shallow water habitats along the coast of Mexican Pacific, such as coastal lagoons, coral reefs, rocky shores and from man-made structures as marinas, piers and ships of several harbors; additionally, specimens from national collections were revised. More than 8,400 specimens of sabellids and serpulids from the states of Baja California, Baja California Sur, Sonora, Sinaloa, Michoacán, Guerrero, Oaxaca and Chiapas, and some specimens from Panamá and Perú were examined. In the present work we record new localities of four sabellids and 24 serpulids. One sabellid, Branchiomma bairdi, is an exotic/invasive species in Oaxaca, Sinaloa and Baja California Sur, while four species of serpulids are exotic and/or cryptogenic species: Ficopomatus uschakovi, Hydroides dirampha, H. elegans and H. sanctaecrucis. Additionally, the geographical range has been extended for five species: the sabellids Pseudobranchiomma punctata from Oahu, Hawaii to La Paz Bay, and Parasabella pallida from California to Puerto Escondido, Baja California Sur; and for three serpulids, Hydroides inermis from the Galápagos Islands to Agua Blanca, Oaxaca, H. gairacensis from Panamá to Puerto Ángel, Oaxaca, and H. panamensis from Panamá to Huatulco, Oaxaca and Faro de Bucerías, Michoacán. Hydroides cf. amri, previously recorded as H. brachyacantha from Oahu, Hawaii, is more similar to H. amri from Australia. The number of sabellids recorded for the Tropical Eastern Pacific increased to 33, the serpulid species to 35.