A 55-year-old healthy man presented with redness and pain in both eyes and was diagnosed with bilateral scleritis. A year later impairment of ocular movement and cervical adenopathy appeared. Laboratory tests revealed signs of inflammation: increased erythrocyte sedimentation rate, lymphocytosis, lactate dehydrogenase, S-ACE converting enzyme and interleukin-2-antibody. An orbital MR-scan revealed inflammation of the extra-ocular muscles. PET-CT showed vascular changes consistent with vasculitis. Lymph node biopsy confirmed the diagnosis chronic lymphatic leukaemia (CLL). This is a rare case - presentation of bilateral scleritis in a patient with undiagnosed CLL, increased inflammatory markers and vasculitis - a possible ocular manifestation of a paraneoplastic syndrome.
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Chest
January 2025
Division of Respirology, Critical Care and Sleep Medicine, Department of Medicine, University of Saskatchewan, Saskatoon, SK, Canada.
Alpha-1-Antitrypsin (A1AT) deficiency is a common hereditary disorder associated with increased risk of developing chronic obstructive pulmonary disease (COPD). Many individuals with severe A1AT deficiency go undiagnosed, or are diagnosed late, and fail to benefit from disease-specific counseling and modifying care. Since the 2012 Canadian Thoracic Society (CTS) A1AT deficiency clinical practice guideline, new approaches to optimal diagnosis using modern genetic testing and studies of A1AT augmentation therapy have been published.
View Article and Find Full Text PDFCureus
December 2024
Department of Colorectal Surgery, Liverpool Hospital, Sydney, AUS.
Blunt abdominal trauma frequently results in visceral injury to either solid or hollow organs; however, injury to the gallbladder is rare. This is most likely due to the anatomical position of the gallbladder, which is well-insulated posterior to the liver and rib cage. Gallbladder injuries can be in the form of avulsion, contusion, or laceration.
View Article and Find Full Text PDFBMC Health Serv Res
January 2025
VA Center for Health Equity Research and Promotion, Pittsburgh, PA, USA.
Background: Because cirrhosis is often unrecognized, we aimed to develop a stepwise screening algorithm for cirrhosis in the Veterans Health Administration (VHA) and assess this approach's feasibility and acceptability.
Methods: VHA hepatology clinicians ("champions") were invited to participate in a pilot program from June 2020 to October 2022. The VHA Corporate Data Warehouse was queried to identify Veterans with possible undiagnosed cirrhosis using Fibrosis-4 (FIB-4) ≥ 3.
Orphanet J Rare Dis
January 2025
Laboratory of Neurogenetics and Molecular Medicine, Center for Genomic Sciences in Medicine, Institut de Recerca Sant Joan de Déu, Únicas SJD Center, Hospital Sant Joan de Déu, Barcelona, Spain.
Background: Rare diseases (RDs) are a heterogeneous group of complex and low-prevalence conditions in which the time to establish a definitive diagnosis is often too long. In addition, for most RDs, few to no treatments are available and it is often difficult to find a specialized care team.
Objectives: The project "acERca las enfermedades raras" (in English: "bringing RDs closer") is an initiative primary designed to generate a consensus by a multidisciplinary group of experts to detect the strengths and weaknesses in the public healthcare system concerning the comprehensive care of persons living with a RD (PLWRD) in the region of Catalonia, Spain, where a Network of Clinical Expert Units (Xarxa d'Unitats de Expertesa Clínica or XUEC) was created and is being implemented since 2015.
Australas J Ultrasound Med
February 2025
Division of Maternal Fetal Medicine, Department of Obstetrics and Gynecology Beth Israel Deaconess Medical Center Boston Massachusetts USA.
Introduction: Vasa previa is a complication of pregnancy, which affects approximately 1:1200 pregnancies, and when undiagnosed prenatally, it can be associated with significant perinatal mortality. This condition is thought to be a sporadic entity without known genetic or familial associations and thus considered to carry a negligible recurrence risk.
Key Findings: We present a case of a 42-year-old gravida 3 para 2 diagnosed on transvaginal ultrasound with a vasa previa at 34 weeks associated with vaginal bleeding, which required an urgent caesarean in a prior spontaneous pregnancy.
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