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Objectivizing issues in the diagnosis of complex rare diseases: lessons learned from testing existing diagnosis support systems on ciliopathies
BackgroundThere are approximately 8,000 different rare diseases that affect roughly 400 million people worldwide. Many of them suffer from delayed...
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Axial Spondyloarthritis and Diagnostic Challenges: Over-diagnosis, Misdiagnosis, and Under-diagnosis
Purpose of ReviewThis article aims to review the challenges in axial spondyloarthritis diagnosis and identify the possible contributing factors.
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Histopathologic Diagnosis of Sinonasal Tumors: Challenges and the Importance of Establishing the Correct Diagnosis
Purpose of ReviewSinonasal tumors are a rare and diverse group of neoplasms, each with characteristic clinical behavior and therapeutic implications....
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The association of pre-cancer diagnosis cardiovascular risk factors with memory aging after a cancer diagnosis, overall and by race/ethnicity
PurposeCardiovascular risk factors (CVRFs) are associated with increased risk for cognitive impairment and decline in the general population, but...
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Michael’s missed genetic diagnosis
Michael, after whom the Michael Foundation is named, had been diagnosed with neonatal-onset refractory epilepsy that challenged numerous...
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Cerebral Palsy – Early Diagnosis and Intervention Trial: protocol for the prospective multicentre CP-EDIT study with focus on diagnosis, prognostic factors, and intervention
BackgroundEarly diagnosis of cerebral palsy (CP) is important to enable intervention at a time when neuroplasticity is at its highest. Current mean...
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Update on the diagnosis and treatment of neuromyelits optica spectrum disorders (NMOSD) – revised recommendations of the Neuromyelitis Optica Study Group (NEMOS). Part I: Diagnosis and differential diagnosis
The term ‘neuromyelitis optica spectrum disorders’ (NMOSD) is used as an umbrella term that refers to aquaporin-4 immunoglobulin G...
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Clinical evaluation of malignancy diagnosis of rare thyroid carcinomas by an artificial intelligent automatic diagnosis system
PurposeTo evaluate the application value of a generally trained artificial intelligence (AI) automatic diagnosis system in the malignancy diagnosis...
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Bardet-Biedl Syndrome: a case report of delayed diagnosis with variable presentation and role of genetic testing in definitive diagnosis
BackgroundBardet-Biedl syndrome (BBS) is a rare multisystemic autosomal recessive (AR) disorder, which falls under the spectrum of ciliopathic...
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Delayed diagnosis in Hirschsprung disease
IntroductionDiagnostic delay in Hirschsprung disease is uncommon. Different definitions have been proposed but that of a diagnosis achieved after...
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Essential thrombocytosis: diagnosis, differential diagnosis, complications and treatment considerations of relevance for a cardiologist
Essential thrombocytosis (ET) is a rare haematological malignancy, with an incidence rate of 1.5–2.5/100,000 per year. For many patients with ET the...
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Fast vs. Regular Track for Lung and Pancreatic Cancer Diagnosis—Time from Initial Finding to Final Diagnosis and Patient Survival
BackgroundHealth systems around the world have begun implementing unique tracks to expedite diagnosis and improve survival of patients with suspected...
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Review of diagnosis, differential diagnosis, and management of retroperitoneal lymphangioma
Lymphatic malformation (LM) is the currently preferred term for what was previously known as lymphangioma. Retroperitoneal LMs are extremely rare,...
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Bronchiectasis: An Evidence-Based Approach to Diagnosis
Purpose of ReviewThe purpose of this review is to understand the criteria for clinical and radiologic diagnosis of bronchiectasis and the algorithmic...
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Knowledge Graph Enhanced Transformers for Diagnosis Generation of Chinese Medicine
Chinese medicine (CM) diagnosis intellectualization is one of the hotspots in the research of CM modernization. The traditional CM intelligent...
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Sonographic diagnosis of spondylodiscitis in a young child
Sonographic diagnosis of spondylodiscitis is described in a 21-month-old girl who presented with altered gait. Spondylodiscitis, also referred to as...
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A universal diagnosis syntax
BackgroundDiagnoses are crucial assets of clinical work and provide the foundation for treatment and follow up. They should be informative and...
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Validating the accuracy of deep learning for the diagnosis of pneumonia on chest x-ray against a robust multimodal reference diagnosis: a post hoc analysis of two prospective studies
BackgroundArtificial intelligence (AI) seems promising in diagnosing pneumonia on chest x-rays (CXR), but deep learning (DL) algorithms have...
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Hybrid architecture based intelligent diagnosis assistant for GP
As the first point of contact for patients, General Practitioners (GPs) play a crucial role in the National Health Service (NHS). An accurate primary...
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Cholangiocarcinoma imaging: from diagnosis to response assessment
Cholangiocarcinoma (CCA), a highly aggressive primary liver cancer arising from the bile duct epithelium, represents a substantial proportion of...
