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Rheumatology International May 2024Axial spondyloarthritis (axSpA) is a chronic condition predominantly affecting the spine and sacroiliac joints. This article provides an in-depth overview of the current... (Review)
Review
Axial spondyloarthritis (axSpA) is a chronic condition predominantly affecting the spine and sacroiliac joints. This article provides an in-depth overview of the current approaches to diagnosing, monitoring, and managing axSpA, including insights into developing terminology and diagnostic difficulties. A substantial portion of the debate focuses on the challenging diagnostic procedure, noting the difficulty of detecting axSpA early, particularly before the appearance of radiologic structural changes. Despite normal laboratory parameters, more than half of axSpA patients experience symptoms. X-ray and magnetic resonance imaging (MRI) are essential for evaluating structural damage and inflammation. MRI can be beneficial when there is no visible structural damage on X-ray as it can help unravel bone marrow edema (BME) as a sign of ongoing inflammation. The management covers both non-pharmacological and pharmacological approaches. Lifestyle modifications, physical activity, and patient education are essential components of the management. Pharmacological therapy, including nonsteroidal anti-inflammatory drugs (NSAIDs) and biologic disease-modifying anti-rheumatic drugs (bDMARDs), are explored, emphasizing individualized treatment. To effectively manage axSpA, a comprehensive and well-coordinated approach is necessary, emphasizing the significance of a multidisciplinary team. Telehealth applications play a growing role in axSpA management, notably in reducing diagnostic delays and facilitating remote monitoring. In conclusion, this article underlines diagnostic complexities and emphasizes the changing strategy of axSpA treatment. The nuanced understanding offered here is designed to guide clinicians, researchers, and healthcare providers toward a more comprehensive approach to axSpA diagnosis and care.
PubMed: 38758383
DOI: 10.1007/s00296-024-05615-3 -
Indian Journal of Otolaryngology and... Sep 2023Kimura disease is a rare chronic inflammatory disorder of unknown cause, primarily seen in young Asian males. The disease is characterized by painless subcutaneous...
Kimura disease is a rare chronic inflammatory disorder of unknown cause, primarily seen in young Asian males. The disease is characterized by painless subcutaneous swelling, blood and tissue eosinophilia and raised IgE levels. Early diagnosis of Kimura's disease may spare the patient from unnecessary invasive diagnostic procedure. We describe a case of Kimura disease in a 17-year-old male presenting with left submandibular swelling.
PubMed: 37636697
DOI: 10.1007/s12070-022-03349-x -
Advanced Science (Weinheim,... Oct 2023Myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) is characterized by debilitating fatigue that profoundly impacts patients' lives. Diagnosis of ME/CFS remains...
Myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) is characterized by debilitating fatigue that profoundly impacts patients' lives. Diagnosis of ME/CFS remains challenging, with most patients relying on self-report, questionnaires, and subjective measures to receive a diagnosis, and many never receiving a clear diagnosis at all. In this study, a single-cell Raman platform and artificial intelligence are utilized to analyze blood cells from 98 human subjects, including 61 ME/CFS patients of varying disease severity and 37 healthy and disease controls. These results demonstrate that Raman profiles of blood cells can distinguish between healthy individuals, disease controls, and ME/CFS patients with high accuracy (91%), and can further differentiate between mild, moderate, and severe ME/CFS patients (84%). Additionally, specific Raman peaks that correlate with ME/CFS phenotypes and have the potential to provide insights into biological changes and support the development of new therapeutics are identified. This study presents a promising approach for aiding in the diagnosis and management of ME/CFS and can be extended to other unexplained chronic diseases such as long COVID and post-treatment Lyme disease syndrome, which share many of the same symptoms as ME/CFS.
Topics: Humans; Fatigue Syndrome, Chronic; Leukocytes, Mononuclear; Artificial Intelligence; Post-Acute COVID-19 Syndrome; Diagnostic Tests, Routine
PubMed: 37653608
DOI: 10.1002/advs.202302146 -
Journal of Visualized Experiments : JoVE Nov 2023Local anesthetic thoracoscopy (LAT) is a minimally invasive diagnostic procedure gaining recognition among chest physicians for managing undiagnosed pleural effusions....
Local anesthetic thoracoscopy (LAT) is a minimally invasive diagnostic procedure gaining recognition among chest physicians for managing undiagnosed pleural effusions. This single-port procedure is conducted with the patient under mild sedation and involves a contralateral decubitus position. It is performed in a sterile setting, typically a bronchoscopy suite or surgical theater, by a single operator with support from a procedure-focused nurse and a patient-focused nurse. The procedure begins with a thoracic ultrasound to determine the optimal entry point, usually in the IV-V intercostal space along the midaxillary line. Lidocaine/mepivacaine, with or without adrenaline, is used to anesthetize the skin, thoracic wall layers, and parietal pleura. A designated trocar and cannula are inserted through a 10 mm incision, reaching the pleural cavity with gentle rotation. The thoracoscope is introduced through the cannula for systematic inspection of the pleural cavity from the apex to the diaphragm. Biopsies (typically six to ten) of suspicious parietal pleura lesions are obtained for histopathological evaluation and, when necessary, microbiological analysis. Biopsies of the visceral pleura are generally avoided due to the risk of bleeding or air leaks. Talc poudrage may be performed before inserting a chest tube or indwelling pleural catheter through the cannula. The skin incision is sutured, and intrapleural air is removed using a three-compartment or digital chest drainage system. The chest tube is removed once there is no airflow, and the lung has satisfactorily re-expanded. Patients are usually discharged after 2-4 h of observation and followed up on an outpatient basis. Successful LAT relies on careful patient selection, preparation, and management, as well as operator education, to ensure safety and a high diagnostic yield.
Topics: Humans; Anesthetics, Local; Pleural Effusion; Thoracoscopy; Bronchoscopy; Exudates and Transudates
PubMed: 38009737
DOI: 10.3791/65734 -
Journal of Medical Imaging and... Dec 2023Imaging and image processing is the fundamental pillar of interventional oncology in which diagnostic, procedure planning, treatment and follow-up are sustained. Knowing... (Review)
Review
Imaging and image processing is the fundamental pillar of interventional oncology in which diagnostic, procedure planning, treatment and follow-up are sustained. Knowing all the possibilities that the different image modalities can offer is capital to select the most appropriate and accurate guidance for interventional procedures. Despite there is a wide variability in physicians preferences and availability of the different image modalities to guide interventional procedures, it is important to recognize the advantages and limitations for each of them. In this review, we aim to provide an overview of the most frequently used image guidance modalities for interventional procedures and its typical and future applications including angiography, computed tomography (CT) and spectral CT, magnetic resonance imaging, Ultrasound and the use of hybrid systems. Finally, we resume the possible role of artificial intelligence related to image in patient selection, treatment and follow-up.
Topics: Humans; Artificial Intelligence; Tomography, X-Ray Computed; Ultrasonography; Image Processing, Computer-Assisted; Medical Oncology
PubMed: 38062853
DOI: 10.1111/1754-9485.13610 -
Journal of Clinical Medicine Nov 2023In this comprehensive review, we delve into the significance of the ocular fundus examination in diagnosing and managing systemic infections at the bedside. While the... (Review)
Review
In this comprehensive review, we delve into the significance of the ocular fundus examination in diagnosing and managing systemic infections at the bedside. While the utilization of advanced ophthalmological diagnostic technologies can present challenges in bedside care, especially for hospitalized patients confined to their beds or during infection outbreaks, the ocular fundus examination often emerges as an essential, and sometimes the only practical, diagnostic tool. Recent discussions have highlighted that the role of an ocular fundus examination might not always be advocated as a routine diagnostic procedure. With this context, we introduce a decision tree tailored for assessing the ocular fundus in inpatients with systemic infections. We also present an overview of systemic infections that impact the eye and elucidate key signs detectable through a bedside ocular fundus examination. Targeted primarily at non-ophthalmology clinicians, this review seeks to offer a comprehensive insight into a multifaceted approach and the enhancement of patient clinical outcomes.
PubMed: 38068267
DOI: 10.3390/jcm12237216 -
International Journal of Dermatology Jan 2024Androgenetic alopecia (AGA) is the most prevalent type of hair loss in women and men. Recently, a European consensus group published guidelines for the diagnostic... (Review)
Review
Androgenetic alopecia (AGA) is the most prevalent type of hair loss in women and men. Recently, a European consensus group published guidelines for the diagnostic evaluation of AGA in men, women, and adolescents. This S1 guideline presents expert opinion-based recommendations for gender-dependent steps in the diagnostic procedure, which can easily be implemented in the daily clinical routine. For diagnosing AGA, detailed anamnesis and objective learning are not enough because there are several conditions mimicking this disease. Trichoscopy can be considered an important, non-invasive tool for diagnosing hair and scalp disorders that may have similar clinical signs to AGA.
Topics: Male; Adolescent; Humans; Female; Alopecia; Hair; Dermoscopy; Learning
PubMed: 37950461
DOI: 10.1111/ijd.16895 -
Genes Jul 2023Heterozygous carriers of pathogenic/likely pathogenic variants in autosomal recessive disorders seem to be asymptomatic. However, in recent years, an increasing number... (Review)
Review
Heterozygous carriers of pathogenic/likely pathogenic variants in autosomal recessive disorders seem to be asymptomatic. However, in recent years, an increasing number of case reports have suggested that mild and unspecific symptoms can occur in some heterozygotes, as symptomatic heterozygotes have been identified across different disease types, including neurological, neuromuscular, hematological, and pulmonary diseases. The symptoms are usually milder in heterozygotes than in biallelic variants and occur "later in life". The status of symptomatic heterozygotes as separate entities is often disputed, and alternative diagnoses are considered. Indeed, often only a thin line exists between dual, dominant, and recessive modes of inheritance and symptomatic heterozygosity. Interestingly, recent population studies have found global disease effects in heterozygous carriers of some genetic variants. What makes the few heterozygotes symptomatic, while the majority show no symptoms? The molecular basis of this phenomenon is still unknown. Possible explanations include undiscovered deep-splicing variants, genetic and environmental modifiers, digenic/oligogenic inheritance, skewed methylation patterns, and mutational burden. Symptomatic heterozygotes are rarely reported in the literature, mainly because most did not undergo the complete diagnostic procedure, so alternative diagnoses could not be conclusively excluded. However, despite the increasing accessibility to high-throughput technologies, there still seems to be a small group of patients with mild symptoms and just one variant of autosomes in biallelic diseases. Here, we present some examples, the current state of knowledge, and possible explanations for this phenomenon, and thus argue against the existing dominant/recessive classification.
Topics: Humans; Heterozygote; Inheritance Patterns; Knowledge; Multifactorial Inheritance; Protein Processing, Post-Translational
PubMed: 37628614
DOI: 10.3390/genes14081562 -
Laryngo- Rhino- Otologie May 2024The laryngotracheal junction is an anatomical region with special pathophysiological features. This review presents clinical pictures and malformations that manifest... (Review)
Review
The laryngotracheal junction is an anatomical region with special pathophysiological features. This review presents clinical pictures and malformations that manifest pre-dilectively at this localisation in children and adolescents as well as in adults. The diagnostic procedure is discussed. The possibilities of surgical reconstruction are presented depending on the pathology and age of the patient.
Topics: Humans; Trachea; Larynx; Adolescent; Child; Plastic Surgery Procedures; Adult; Laryngostenosis
PubMed: 38697146
DOI: 10.1055/a-2181-9576