ABSTRACT
Patients with mutations in the polymerase gamma gene (POLG) may present with progressive ataxia and in such situations neuroimaging findings may suggest the diagnosis. Herein we report a patient with a POLG gene W748S homozygous mutation and characteristic lesions in the thalamus, cerebellum and inferior olivary nucleus seen on magnetic resonance imaging.
Subject(s)
Brain Diseases/pathology , Brain/pathology , DNA-Directed DNA Polymerase/genetics , Adult , DNA Polymerase gamma , Diagnosis, Differential , Female , Genetic Predisposition to Disease/genetics , Humans , Mitochondrial Diseases/genetics , Mitochondrial Diseases/pathology , Mutation/genetics , Polymorphism, Single Nucleotide/geneticsABSTRACT
BACKGROUND: Given the acknowledged problems in sepsis diagnosis, we use a novel way with the application of the latent class analysis (LCA) to determine the operative characteristics of C-reactive protein (CRP), D-dimer (DD) and Procalcitonin (PCT) as diagnostic tests for sepsis in patients admitted to hospital care with a presumptive infection. METHODS: Cross-sectional study to determine the diagnostic accuracy of three biological markers against the gold standard of clinical definition of sepsis provided by an expert committee, and also against the likelihood of sepsis according to LCA. Patients were recruited in the emergency room within 24 hours of hospitalization and were follow-up daily until discharge. RESULTS: Among 765 patients, the expert committee classified 505 patients (66%) with sepsis, 112 (15%) with infection but without sepsis and 148 (19%) without infection. The best cut-offs points for CRP, DD, and PCT were 7.8 mg/dl, 1616 ng/ml and 0.3 ng/ml, respectively; but, neither sensitivity nor specificity reach 70% for any biomarker. The LCA analysis with the same three tests identified a "cluster" of 187 patients with several characteristics suggesting a more severe condition as well as better microbiological confirmation. Assuming this subset of patients as the new prevalence of sepsis, the ROC curve analysis identified new cut-off points for the tests and suggesting a better discriminatory ability for PCT with a value of 2 ng/ml. CONCLUSIONS: Under a "classical" definition of sepsis three typical biomarkers (CRP, PCT and DD) are not capable enough to differentiate septic from non-septic patients in the ER. However, a higher level of PCT discriminates a selected group of patients with severe sepsis.
ABSTRACT
La respuesta que desarrolla un hospedero frente a una infección puede llevar a un espectro de manifestaciones que incluye desde la sepsis hasta la disfunción orgánica múltiple y la muerte. Dada la complejidad del fenómeno fisiopatológico, las manifestaciones clínicas son muy variadas y, en ocasiones, tan sutiles que para detectarlas se requiere un alto índice de sospecha por parte del médico tratante. El juicio clínico se debe complementar con los exámenes de laboratorio pertinentes para lograr el diagnóstico oportuno, lo que permite iniciar las medidas de tratamiento adecuadas: la optimización hemodinámica temprana, la terapia antimicrobiana y las medidas de soporte.
Host response against infection may produce a wide spectrum of clinical manifestations, from sepsis toorgan dysfunction and death. Since the underlying process is complex, clinical findings are varied and may be so subtle that a high level of diagnostic suspicion is required. Clinical judgment should becomplemented with appropriate laboratory tests so that the correct treatment, including haemodynamicoptimization, antimicrobial therapy and general supportive measures, can be started early.