Diagnosis最新文献

Introduction: Neurodegenerative diseases such as multiple Sclerosis (MS), Alzheimer's disease (AD), and Parkinson's disease (PD) share overlapping clinical and pathological features, complicating early diagnosis and management. Demyelination, a key pathological hallmark, underscores the importance of accurately assessing white matter (WM) integrity.

Content: Myelin water imaging (MWI), an advanced non-invasive MRI technique, quantifies the myelin water fraction (MWF) and offers high specificity for detecting myelin abnormalities. This systematic review explores the feasibility and diagnostic utility of MWI across MS, AD, and PD by analyzing 21 high-quality studies from major databases, following PRISMA guidelines.

Summary: MWI consistently revealed reduced MWF in MS patients across various WM regions, lesion types, and disease stages, including responsiveness to early treatment. In AD, MWF decline correlated with disease progression and apolipoprotein E4 (APOE4) genotype, supporting its potential in early diagnosis. Findings in PD were inconsistent, reflecting secondary or minimal myelin involvement in its pathology.

Outlook: MWI shows strong promise as a non-invasive imaging biomarker, particularly in MS and AD. Standardization of acquisition protocols, integration with multimodal imaging, and further longitudinal studies are essential to establish its clinical utility and support broader implementation in neurodegenerative disease diagnostics.

Objectives: Hereditary transthyretin amyloidosis with polyneuropathy (ATTRv-PN) is a rare, progressive neurodegenerative disorder caused by mutations in the transthyretin (TTR) gene. The disease leads to systemic amyloid deposition, primarily affecting the nervous system and, in some cases, the heart. Early diagnosis and monitoring are critical for effective management, yet reliable biomarkers remain limited. This study aimed to investigate the role of serum glial fibrillary acidic protein (GFAP) and neurofilament light chain (NfL) as biomarkers in ATTRv-PN.

Methods: A retrospective observational study was conducted at the University Hospital Paolo Giaccone, enrolling ATTRv-PN patients, asymptomatic TTR mutation carriers, and healthy blood donors. Serum GFAP and NfL levels were measured using a fully automated immunoassay (Lumipulse G1200).

Results: A total of 119 participants were included: ATTRv-PN (n=23), carriers (n=27), and healthy controls (n=69). GFAP levels were significantly elevated in ATTRv-PN patients compared to carriers and healthy controls (p<0.001), with the highest levels observed in individuals with the V122I mutation. The median NfL levels were also significantly elevated in ATTRv-PN patients (30.74 pg/mL) compared to carriers (11.59 pg/mL) and healthy controls (12.86 pg/mL) (p<0.001). Additionally, a significant negative correlation was observed between NfL levels and clinical severity scores, indicating its association with disease severity.

Conclusions: These findings support the usefulness of serum NfL as a prognostic tool in ATTRv-PN and highlight the potential involvement of astrocyte activation in disease pathology. Further longitudinal studies are needed to validate these biomarkers for clinical application.

Objectives: In the prognostic evaluation of syncopal patients, previous episodes have a somewhat ambivalent role, as they are usually associated to reflex syncope, with a benign prognosis, but according to some authors when frequent require further investigations even in case of a negative ED workup.

Methods: Retrospective observational study in a cohort of 378 ED syncopal patients to investigated the presence of previous episodes and their prognostic significance, in predicting cardiac syncope, syncope associated to underlying acute diseases and syncope severe due to consequential risk.

Results: We found previous syncopal episodes in over half of patients (57.4 %); mostly few (up to two episodes in total in 63.8 %), with a trends over time very rare or occasional, in a small minority complicated by major injuries. As regards the prognostic role of syncopal recurrences, we found: 1. no association between their total number in life with any outcome considered; 2. a close association between presence of acute principal diseases and absence of previous episodes; 3. a close association between severe syncope due to consequential risk and a frequent or recurrent time course of previous spells and previous episodes worsened by major injuries.

Conclusions: Previous episodes, although frequent, don't correlate with adverse outcomes so don't help to identify high risk patients. Conversely, a first syncopal episode, especially in elderly patients, requires careful evaluation to rule out any underlying acute condition. Additionally, attention should be also paid to patients with previous episodes clustered in the last period or complicated by severe injuries, as they negatively impact quality of life.

Illness scripts are mental networks of information about medical diseases and are used by clinicians to efficiently make diagnostic and treatment decisions. The traditional components of an illness script include the epidemiologic risk factors, pathophysiology, and clinical findings of a disease [Feltovich PJ, Barrows HS. Issues of generality in medical problem solving. In: Schmidt HG, De Volder ML, editors. Tutorials in problem-based learning. Assen/Maastricht: Van Gorcum; 1984:128-42 pp]. Here, we coin the term illness script builder templates (ISBTs), which are educational tools to help learners develop their illness scripts. While the actual concept of ISBTs is not new, we aim to explicitly distinguish these discrete learning tools from illness scripts themselves, which are mental frameworks. ISBTs have significant pedagogic value. They are being more widely adopted in clinical curricula in medical school, as they have been well-received by students and educationally effective. ISBTs allow the integration of new knowledge to be intuitive, as they take advantage of our predilection toward story-based learning. Limitations to ISBTs also exist, especially when considering their optimal length and structure as well as complexity for different levels of learners. We additionally explore the specific strengths and limitations of ISBTs and propose strategies to maximize their use in education and clinical practice.

Objectives: The MR imaging lesion burden described as "innumerable" is rare, and can present a diagnostic challenge. Brain MR imaging with this descriptive term has not been systematically studied. We determine risk factors and MR imaging sequences helpful in a diagnostic algorithm for innumerable brain MR lesions.

Methods: Twelve thousand four hundred ninety-five brain MR imaging studies done at our institution from July 1, 2013 to June 30, 2016 were surveyed for the term "innumerable". Inclusion criteria included 50 or more parenchymal lesions. Patients were classified into active and chronic groups, based on MR characteristics and clinical features.

Results: One hundred and twenty three reports contained the term "innumerable". Thirty-one met inclusion criteria and 19 showed active, and 12 chronic brain process. The active group included 9 metastasis, 6 infarction, 2 microbleeds, and one each, foreign body granulomatous reaction and fungal abscesses. The MR feature accompanied or heralded onset of illness in eight patients. Malignancy was a risk factor in nine patients with metastasis and in 2 with infarct from cancer-associated hypercoagulation. Other risk factors included immunosuppression, endocarditis, long bone fracture and aortic dissection.

Conclusions: MR defined active innumerable brain lesions occurred in 0.25 % of studies. Fifteen of 19 in the active group were due to metastasis or infarction, defined by T1-weighted gadolinium enhancement and restricted-diffusion respectively. A diagnostic algorithm based on MR imaging features and risk factors can guide critical decision for brain biopsy.

Objectives: During the SARS-CoV-2 pandemic, new patient evaluations in pediatric rheumatology were performed using telehealth. Given the pediatric rheumatology workforce shortage, telehealth may be a way to efficiently triage referrals. The objective was to assess the utility of telehealth visits as a diagnostic tool to accurately assess the need for in-person evaluation.

Methods: This was a retrospective cohort study of patients evaluated by telehealth for a new patient visit from March 1 to June 30, 2020 at a tertiary center. Electronic health record documentation from subsequent rheumatology, specialty, and primary care encounters over the subsequent 4 years were reviewed. The primary outcome was diagnostic concordance, defined as consistency in the documented diagnostic reasoning, between the initial telehealth video visit and in-person follow-up visits.

Results: During the study period, there were 111 telehealth visits, 80 (72 %) of which had follow-up data. 55/80 had in-person rheumatology evaluations. Only 9 % patients had discordant diagnoses, all of whom had initial concern for inflammatory arthritis during the telehealth visit but a diagnosis of a non-inflammatory condition after in-person evaluation. Nine patients with a significant rheumatic disease were identified via telehealth. There were no unplanned ED visits or hospital admissions following telehealth visits. 33 % of patients were found to not warrant rheumatologic follow-up after the telehealth visit.

Conclusions: For pediatric rheumatology new patient evaluations, diagnostic accuracy via telehealth evaluation was high. Providers triaged patients with chronic rheumatologic conditions for in-person evaluations and were able to accurately identify benign conditions that did not require in-person follow-up.

Understanding the pathologic basis of diseases and their clinical correlates has been growing in parallel to the relevant advances in science and medicine. However, most reformed medical school curricula have mainly addressed the overall content integration with a less emphasis on explicitly structuring the integration of pathophysiology or other relevant basic sciences in clinical skills (CS) courses. Clinicopathologic Correlations (CPCOR), when effectively designed in CS courses, link the clinical findings to their related basic science fundamental changes. Regular highlighting of relevant CPCORs in CS courses enhances student acquisition of clinical reasoning skills and at the same time triggers their translational scientific curiosity. The six-step CPCOR process, detailed in the manuscript, starts with developing session learning objectives that guide CPCOR content development relevant to the weekly CS case. A typical CPCOR session includes pre-encounter and post-encounter small group activities in which students formulate broad and narrow differential diagnosis respectively. Throughout the session, students discuss risk factors, etiopathogenesis, and history and physical examination findings for the identified differential diagnoses. These small group activities are enhanced by a large group session delivered by a Pathologist-Clinician team that leads student centered CPCOR discussions relevant to the weekly CS case. In addition to the enhanced clinical reasoning skills, the implemented CPCOR process augmented the curricular emphasis of lifelong learning skills while reinforcing the importance of the pathologic basis of the clinical findings. Our streamlined CPCOR process can easily be adapted into other medical school curricula to meet relevant needs of integration and clinical reasoning enhancements.