Articles: diagnosis.
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The lancet oncology · Aug 2022
Randomized Controlled Trial Multicenter StudyOptical coherence tomography versus punch biopsy for diagnosis of basal cell carcinoma: a multicentre, randomised, non-inferiority trial.
Punch biopsy is the gold standard for diagnosis and subtyping of basal cell carcinoma. The aim of this study was to assess whether use of optical coherence tomography (OCT), a non-invasive imaging tool, might avoid the need for biopsy. ⋯ The Netherlands Organization for Health Research and Development and Maurits en Anna de Kock Stichting.
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Multicenter Study
The Boston criteria version 2.0 for cerebral amyloid angiopathy: a multicentre, retrospective, MRI-neuropathology diagnostic accuracy study.
Cerebral amyloid angiopathy (CAA) is an age-related small vessel disease, characterised pathologically by progressive deposition of amyloid β in the cerebrovascular wall. The Boston criteria are used worldwide for the in-vivo diagnosis of CAA but have not been updated since 2010, before the emergence of additional MRI markers. We report an international collaborative study aiming to update and externally validate the Boston diagnostic criteria across the full spectrum of clinical CAA presentations. ⋯ US National Institutes of Health (R01 AG26484).
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Multicenter Study Observational Study
The Interdisciplinary Diagnosis of Rare Diseases-Results of the Translate-NAMSE Project.
Patients with rare diseases often undergo a diagnostic odyssey that can last many years until the diagnosis is definitively established. To improve the diagnosis and treatment of these patients, the German National Task Force for Patients With Rare Diseases (Nationales Aktionsbündnis für Menschen mit Seltenen Erkrankungen, NAMSE) has recommended the creation of Rare Disease Centers (RDCs). ⋯ A diagnostic evaluation with the aid of interdisciplinary case conferences and the opportunity for exome analysis can be of benefit to people with rare diseases who have not received a definitive diagnosis in a standard care setting. Further improvement of the diagnosis rate can come from whole-genome analysis and from the introduction of an international registry.
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Multicenter Study
Referral indications for malignant hyperthermia susceptibility diagnostics in patients without adverse anesthetic events in the era of next-generation sequencing.
The introduction of next-generation sequencing into the diagnosis of neuromuscular disorders has resulted in an increased number of newly identified RYR1 variants. The hypothesis was that there is an increased referral of patients to malignant hyperthermia units without a personal/family history of adverse anesthetic events suspected to be malignant hyperthermia. This retrospective multicenter cohort study evaluates patient referral indications and outcomes for those without a history of an adverse anesthetic event. ⋯ The proportion of patients referred to malignant hyperthermia units without a personal/family history of an adverse anesthetic event has increased, with 39.2% (47 of 120) diagnosed as malignant hyperthermia-susceptible.
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Ligamentous Lisfranc instability is commonly missed on unilateral radiographs. However, measurement protocols for bilateral weightbearing radiographs have not been standardized. The primary aim of this study was to investigate the optimal cut-off values for diagnosing Lisfranc instability by evaluating the side-to-side differences of preoperative bilateral weightbearing radiographs among patients with surgically-confirmed ligamentous Lisfranc instability. A secondary aim was to investigate whether the midfoot measurements for detecting Lisfranc injury could also be used in patients with a pre-existing bilateral Hallux Valgus (HV) deformity by evaluating whether the Lisfranc measurements could be affected by a foot deformity as HV. ⋯ Level III, retrospective comparative study.