RESUMO
AIMS: Metabolomics have been used to evaluate the role of small molecules in human disease. However, the cost and complexity of the methodology and interpretation of findings have limited the transference of knowledge to clinical practice. Here, we apply a targeted metabolomics approach using samples blotted in filter paper to develop clinical-metabolomics models to detect kidney dysfunction in diabetic kidney disease (DKD). METHODS: We included healthy controls and subjects with type 2 diabetes (T2D) with and without DKD and investigated the association between metabolite concentrations in blood and urine with eGFR and albuminuria. We also evaluated performance of clinical, biochemical and metabolomic models to improve kidney dysfunction prediction in DKD. RESULTS: Using clinical-metabolomics models, we identified associations of decreased eGFR with body mass index (BMI), uric acid and C10:2 levels; albuminuria was associated to years of T2D duration, A1C, uric acid, creatinine, protein intake and serum C0, C10:2 and urinary C12:1 levels. DKD was associated with age, A1C, uric acid, BMI, serum C0, C10:2, C8:1 and urinary C12:1. Inclusion of metabolomics increased the predictive and informative capacity of models composed of clinical variables by decreasing Akaike's information criterion, and was replicated both in training and validation datasets. CONCLUSIONS: Targeted metabolomics using blotted samples in filter paper is a simple, low-cost approach to identify outcomes associated with DKD; the inclusion of metabolomics improves predictive capacity of clinical models to identify kidney dysfunction and DKD-related outcomes.
Assuntos
Nefropatias Diabéticas/sangue , Metabolômica/métodos , Técnicas de Diagnóstico Molecular/métodos , Idoso , Biomarcadores/sangue , Biomarcadores/urina , Diabetes Mellitus Tipo 2/complicações , Nefropatias Diabéticas/urina , Feminino , Humanos , Masculino , Metaboloma , Metabolômica/normas , Pessoa de Meia-Idade , Técnicas de Diagnóstico Molecular/normasRESUMO
BACKGROUND: visceral leishmaniasis is the most serious clinical picture of leishmaniasis or kala azar. In Mexico it is a rare disease, which is a reason why it is diagnosed late concluding with patient's death most of the time. We present a clinical case of an HIV-positive male patient who developed visceral leishmaniasis, with the objective of showing the pathophysiological characteristics as well as the diagnostic approach and treatment. CLINICAL CASE: a 45-year-old male, a water utility company worker, presented to the hospital as having chronic bloody diarrhea, abdominal distension, cramping pain, weight loss and fever. On physical examination, he was febrile, with pain localized to the right lower quadrant and hepatosplenomegaly. The ELISA test for HIV was positive and the ultrasound showed a cecal tumor. A tumor biopsy was performed and the pathology report described leishmaniasis. CONCLUSIONS: in patients with leishmaniasis and HIV the response to treatment is poor and the mortality rate is high due to lower immune response from the host. Current studies suggest treating these patients with HIV and leishmaniasis with pertinent drugs in combination with miltefosine and liposomal amphotericin B.
Introducción: la leishmaniasis visceral o kala azar es la presentación clínica más grave. En México, es una enfermedad rara por lo que su diagnóstico es tardío y generalmente culmina en la muerte del paciente. Se describe a un paciente VIH positivo que desarrolló leishmaniasis visceral. El objetivo es explicar sus características fisiopatológicas y de su tratamiento. Caso clínico: hombre de 45 años de edad, quien ingresó al hospital por cuadro crónico de diarrea sanguinolenta, distensión abdominal, dolor tipo cólico, pérdida de peso y fiebre. A la exploración física se identificó paciente febril con dolor en fosa iliaca derecha y hepatoesplenomegalia. La prueba ELISA para VIH resultó positiva y el ultrasonido hizo evidente una tumoración en ciego, por lo que se realizó biopsia. El informe histopatológico indicó que se trataba de leishmaniasis. Conclusiones: en los pacientes con leishmaniasis e infección por VIH existe pobre respuesta al tratamiento y la mortalidad es alta, causada por la menor respuesta inmune del huésped. En la literatura especializada se sugiere el tratamiento establecido para la infección por VIH combinado con miltefosine y anfotericina B liposomal para la leishmaniasis.
Assuntos
Soropositividade para HIV/complicações , Leishmaniose Visceral/complicações , Evolução Fatal , Humanos , Masculino , Pessoa de Meia-IdadeRESUMO
La esclerosis múltiple es la enfermedad autoinmune que afecta al sistema nervioso central más frecuente en sujetos de entre 20-50 años, y es la principal causa de discapacidad en este grupo. Su cuadro clínico suele ser de cuadros agudos neurológicos con remisiones posteriores y en algunos casos suelen ser progresivos hasta la muerte. El diagnóstico se basa en el cuadro clínico y se apoya en la evidencia de lesiones en resonancia magnética diseminadas en tiempo y espacio, los múltiples tratamientos en la actualidad no curan la enfermedad pero logran suprimir en gran numero la cantidad de brotes. Realizamos esta revisión con el objetivo de mostrar el espectro general de esta amplia enfermedad con la idea de que sea de ayuda a médicos y estudiantes que no estén familiarizados con esta patología que es cada vez más frecuente en nuestro país.
Multiple sclerosis is an autoimmune disease that affects the central nervous system, most common in young people aged 20-50 years. It is the leading cause of disability in this group. The clinical course is usually characterized by severe neurological afflictions followed by remissions and in some cases tend to be progressive to death. The diagnosis is based on clinical symptoms and is supported by the evidence of MRI lesions disseminated in time and space, multiple treatments are currently incapable of curing the disease but they are able to suppress outbreaks in great measure. This review was made with the mere objective to demonstrate the general spectrum of this wide illness with the idea that it is helpful to physicians and students who are not familiar with the disease that is becoming increasingly common in our country.
RESUMO
BACKGROUND: Moyamoya disease is a rare idiopathic non-atherosclerotic, non-inflammatory and non-amyloid cerebrovascular disease characterized by stenosis and progressive occlusion of the internal carotid artery and its branches. Upon panangiography, this abnormality is typically visualized as a cigarette smoke-like pattern due to formation of new collateral vessels. The highest incidence occurs in Asia, principally affecting women. This case report describes the characteristics of these patients and the way to diagnose and treat them. CLINICAL CASE: A 43-year-old man with a history of chronic headache, subarachnoid hemorrhage and tonic clonic seizures; because of his age he was programmed to the young patient study protocol and so he underwent some studies like angiography, angiographic resonance and transcranial Doppler, these exams revealed a bilateral stenosis of the internal carotid arteries and its branches. DISCUSSION: The prognosis of these patients is unfavorable when the disease begins in childhood. Since conservative treatment may not be long-term useful, surgery should be considered in patients with Moyamoya disease. The use of transcranial Doppler is recommended in patients with these clinical features as an initial diagnostic exam.