BACKGROUND The gram-negative aerobic bacterium Moraxella osloensis is an opportunistic pathogen in brain tissues.CASE SUMMARY The gram-negative aerobic bacterium Moraxella osloensis was isolated from a patient’s brai...BACKGROUND The gram-negative aerobic bacterium Moraxella osloensis is an opportunistic pathogen in brain tissues.CASE SUMMARY The gram-negative aerobic bacterium Moraxella osloensis was isolated from a patient’s brain tissue during a stereotactic biopsy.CONCLUSION This is the first report of a brain tissue infection with Moraxella osloensis possibly causing brain gliomatosis.展开更多
BACKGROUND The early diagnosis of basal ganglia and thalamus germinomas is often difficult due to the absence of elevated tumor markers,and atypical clinical symptoms and neuroimaging features.CASE SUMMARY Four male c...BACKGROUND The early diagnosis of basal ganglia and thalamus germinomas is often difficult due to the absence of elevated tumor markers,and atypical clinical symptoms and neuroimaging features.CASE SUMMARY Four male children aged 8 to 15 years were diagnosed with germinomas in the basal ganglia and thalamus by stereotactic biopsy from 2017 to 2019.All patients developed hemiplegia except patient 4 who also had cognitive decline,speech disturbance,nocturnal enuresis,polydipsia,polyuria,precocious puberty and abnormalities of thermoregulation.All four cases were alpha-fetoprotein and beta-human chorionic gonadotrophin(p-HCG)negative except patient 3 who had slightly elevated p-HCG in cerebrospinal fluid(CSF).No malignant cells were detected in the patients'CSF.Brain magnetic resonance imaging findings were diverse in these patients with the exception of the unique and common characteristics of ipsilateral hemisphere atrophy,especially in the cerebral peduncle.All patients were diagnosed with germinomas of the basal ganglia and thalamus by stereotactic brain biopsy.CONCLUSION Stereotactic brain biopsy is necessary to confirm the diagnosis of ectopic germinomas.Serial neuroimaging studies can not only differentiate disease but also determine the biopsy site.展开更多
An emerging paradigm shift for disease diagnosis is to rely on molecular characterization beyond traditional clinical and symptom-based examinations. Although genetic alterations and transcription signature were first...An emerging paradigm shift for disease diagnosis is to rely on molecular characterization beyond traditional clinical and symptom-based examinations. Although genetic alterations and transcription signature were first introduced as potential biomarkers, clinical implementations of these markers are limited due to low reproducibility and accuracy. Instead, epigenetic changes are considered as an alternative approach to disease diagnosis. Complex epigenetic regulation is required for normal biological functions and it has been shown that distinctive epigenetic disruptions could contribute to disease pathogenesis. Disease-specific epigenetic changes, especially DNA methylation, have been observed,suggesting its potential as disease biomarkers for diagnosis. In addition to specificity, the feasibility of detecting disease-associated methylation marks in the biological specimens collcted noninvasively,such as blood samples, has driven the clinical studies to validate disease-specific DNA methylation changes as a diagnostic biomarker. Here, we highlight the advantages of DNA methylation signature for diagnosis in different diseases and discuss the statistical and technical challenges to be overcome before clinical implementation.展开更多
文摘BACKGROUND The gram-negative aerobic bacterium Moraxella osloensis is an opportunistic pathogen in brain tissues.CASE SUMMARY The gram-negative aerobic bacterium Moraxella osloensis was isolated from a patient’s brain tissue during a stereotactic biopsy.CONCLUSION This is the first report of a brain tissue infection with Moraxella osloensis possibly causing brain gliomatosis.
基金The Third Affiliated Hospital of Sun Yat-Sen University,Clinical Research Program,No.YHJH201907.
文摘BACKGROUND The early diagnosis of basal ganglia and thalamus germinomas is often difficult due to the absence of elevated tumor markers,and atypical clinical symptoms and neuroimaging features.CASE SUMMARY Four male children aged 8 to 15 years were diagnosed with germinomas in the basal ganglia and thalamus by stereotactic biopsy from 2017 to 2019.All patients developed hemiplegia except patient 4 who also had cognitive decline,speech disturbance,nocturnal enuresis,polydipsia,polyuria,precocious puberty and abnormalities of thermoregulation.All four cases were alpha-fetoprotein and beta-human chorionic gonadotrophin(p-HCG)negative except patient 3 who had slightly elevated p-HCG in cerebrospinal fluid(CSF).No malignant cells were detected in the patients'CSF.Brain magnetic resonance imaging findings were diverse in these patients with the exception of the unique and common characteristics of ipsilateral hemisphere atrophy,especially in the cerebral peduncle.All patients were diagnosed with germinomas of the basal ganglia and thalamus by stereotactic brain biopsy.CONCLUSION Stereotactic brain biopsy is necessary to confirm the diagnosis of ectopic germinomas.Serial neuroimaging studies can not only differentiate disease but also determine the biopsy site.
基金supported in part by NIH grants(NS051630, NS079625, MH102690 and NS097206 to P.J.)
文摘An emerging paradigm shift for disease diagnosis is to rely on molecular characterization beyond traditional clinical and symptom-based examinations. Although genetic alterations and transcription signature were first introduced as potential biomarkers, clinical implementations of these markers are limited due to low reproducibility and accuracy. Instead, epigenetic changes are considered as an alternative approach to disease diagnosis. Complex epigenetic regulation is required for normal biological functions and it has been shown that distinctive epigenetic disruptions could contribute to disease pathogenesis. Disease-specific epigenetic changes, especially DNA methylation, have been observed,suggesting its potential as disease biomarkers for diagnosis. In addition to specificity, the feasibility of detecting disease-associated methylation marks in the biological specimens collcted noninvasively,such as blood samples, has driven the clinical studies to validate disease-specific DNA methylation changes as a diagnostic biomarker. Here, we highlight the advantages of DNA methylation signature for diagnosis in different diseases and discuss the statistical and technical challenges to be overcome before clinical implementation.
