Background: Hemorrhagic Hereditary Telangiectasia (HHT), or Rendu-Osler-Weber syndrome, is a rare genetic disorder characterized by mucocutaneous telangiectasias and visceral arteriovenous malformations.
Aim And Methods: We describe the case of a 64-year old woman in which radiology was useful to interpret an apparently unexplained constellation of symptoms.
Results: Brain MRI showing ischemic stroke, pulmonary angiography demonstrating arteriovenous malformations, and capsule endoscopy detecting telangiectasias in the jejunum, along with a clinical history of recurrent epistaxis, allowed us to diagnose HHT.
Conclusions: HHT is rare and difficult to diagnose. Radiology can aid the clinical suspicion. www.actabiomedica.it.
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http://dx.doi.org/10.23750/abm.v93iS1.13076 | DOI Listing |
Clin Oral Investig
January 2025
Stomatology Hospital, School of Stomatology, Zhejiang University School of Medicine, Clinical Research Center for Oral Diseases of Zhejiang Province, Key Laboratory of Oral Biomedical Research of Zhejiang Province, Cancer Center of Zhejiang University, Hangzhou, 310006, China.
Objectives: To evaluate recent advances in the automatic multimodal registration of cone-beam computed tomography (CBCT) and intraoral scans (IOS) and their clinical significance in dentistry.
Methods: A comprehensive literature search was conducted in October 2024 across the PubMed, Web of Science, and IEEE Xplore databases, including studies that were published in the past decade. The inclusion criteria were as follows: English-language studies, randomized and nonrandomized controlled trials, cohort studies, case-control studies, cross-sectional studies, and retrospective studies.
Curr Cardiol Rep
January 2025
Division of Cardiology, Department of Medicine, Beth Israel Deaconess Medical Center, Boston, MA, USA.
Purpose Of Review: To provide a contemporary update on the American Society of Echocardiography's ImageGuideEcho Registry and present a case study of an individual institution's experience with enrollment.
Recent Findings: Technical innovation in clinical echocardiography has expanded the impact of echocardiography in cardiovascular care and provides new opportunities to leverage clinical data to inform quality improvement initiatives and research. The ImageGuideEcho Registry is the first echocardiography-specific imaging registry in the United States and provides a data infrastructure for quality improvement and multicenter research.
Mol Genet Genomic Med
February 2025
Department of Orthopeadic Surgery, Sun Yat-Sen Memorial Hospital, Sun Yat-Sen University, Guangzhou, People's Republic of China.
Background: Krabbe disease (KD; globoid cell leucodystrophy) is a rare autosomal recessive lipid storage disorder that affects the white matter of the peripheral and central nervous. Late-onset KD is less frequently diagnosed and often presents with milder symptoms, making accurate diagnosis challenging, especially when distinguishing it from peripheral neuropathy. In this report, we present two cases of late-onset KD in a Chinese family.
View Article and Find Full Text PDFJ Interprof Care
January 2025
Speech-Language Pathology and Audiology, Towson University, Towson, MD, USA.
Collaboration between occupational therapists and speech-language pathologists is crucial in stroke rehabilitation to effectively manage the complex challenges patients often experience after stroke. This article describes a two-hour, case-based interprofessional education (IPE) stroke workshop that required 67 graduate occupation therapy (OT) and speech-language pathology (SLP) students to collaboratively solve a case study related to stroke. Students used a survey to self-assess their interprofessional collaborative practice before and after participating in the workshop and completed a reflection journal.
View Article and Find Full Text PDFAlzheimer Dis Assoc Disord
January 2025
Department of Psychiatry, University of Michigan, Ann Arbor, MI.
Objectives: Many individuals with dementia with Lewy bodies (DLB) die of disease-related complications, but predicting the end of life can be challenging. We identified a phenotype associated with approaching end of life.
Methods: We present 4 exemplar cases where individuals with DLB experienced refractory psychosis before death.
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