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Articles published on Differential Diagnosis

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  • New
  • Research Article
  • 10.1007/s00415-026-13720-5
The epidemiology and clinical presentation of acute vestibular syndromes: a systematic review of the literature.
  • Mar 2, 2026
  • Journal of neurology
  • Flavio A Coban + 1 more

Acute vertigo and dizziness are among the most frequent complaints presenting to the emergency department (ED). If acute-onset and persistent vertigo/dizziness (lasting > 24h) are accompanied by motion intolerance, gait imbalance, nausea/vomitus, and (usually also) nystagmus, this refers to the acute vestibular syndrome (AVS). We aimed at collecting epidemiologic data about the frequency of AVS etiologies for improving the diagnostic workup. We conducted a Prospero-registered systematic literature search (MEDLINE, Embase - in June 2024) retrieving information on AVS's clinical presentation, differential diagnosis, and stroke frequency. Two independent reviewers screened abstracts and full texts. Studies were rated with QUADAS-2 for risk of bias. Due to heterogeneity, we refrained from meta-analysis. We identified 6731 unique articles and 45 manuscripts (reporting on > 5 Mio. dizzy patients) that were included. 3.45% of all ED visits were related to dizziness/vertigo. One tenth (i.e., 0.3%) met the diagnostic criteria for an AVS. Only about 74% of AVS patients received peripheral or central vestibular diagnoses, while 26% were non-specific. Stroke was the second most common cause (21% in our dedicated review) after acute unilateral vestibulopathy (38%). Selected studies assessing infarction location showed posterior-inferior cerebellar artery (36%) involvement most commonly. Stroke cases were seen at similar rates in patients with or without nystagmus (22 vs. 25%). Representing 10% of all dizzy patients, AVS in the ED is frequent. With a stroke fraction among all AVS cases of approximately 21%, profound clinical training to differentiate peripheral from central causes reliably should be prioritized.

  • New
  • Research Article
  • 10.1097/pec.0000000000003589
Physician-Reported Diagnostic Uncertainty Among Children Discharged From the Pediatric Emergency Department With Acute Respiratory Illness.
  • Mar 2, 2026
  • Pediatric emergency care
  • Alexandra T Geanacopoulos + 7 more

Diagnostic uncertainty is an important, yet understudied, driver of patient safety within pediatric emergency medicine. Understanding how uncertainty is experienced and communicated may reveal opportunities to optimize patient safety. This study aims to determine the frequency of physician-reported uncertainty at emergency department (ED) discharge for pediatric acute respiratory illness and to describe strategies and challenges in communicating uncertainty to caregivers. This was a cross-sectional study of children (<18y) discharged with acute respiratory illness from a tertiary care pediatric ED (April to May 2025). For each patient, the discharging attending physician completed a survey assessing diagnostic uncertainty (6-point Likert scale, dichotomized for analysis), and whether and how this was communicated to caregivers. Physicians indicated their general overall comfort communicating uncertainty. Wilson CIs were calculated around the prevalence of visits with uncertainty. Among 220 patients with acute respiratory illness, 68 (31%, 95% 25 to 37%) were discharged with diagnostic uncertainty. Uncertainty was communicated to 61 caregivers (90%) in the following ways: using terms such as "maybe," "probably," or "likely" (74%), provision of return precautions (59%), discussion of the differential diagnosis (56%), and discussion of diagnoses excluded (27%). Many (45% of 60 physicians surveyed) reported communication challenges, citing perceived caregiver expectations, anxiety, and risk communication concerns. Diagnostic uncertainty occurred in nearly one-third of ED discharges for pediatric acute respiratory illness. Communication approaches varied, and several challenges were noted. Future research engaging clinicians and families is needed to address these challenges and develop optimal methods of family-centered communication of uncertainty.

  • New
  • Research Article
  • 10.1007/s00108-026-02064-x
Update on hypertrophic cardiomyopathy
  • Mar 2, 2026
  • Innere Medizin (Heidelberg, Germany)
  • Andreas J Rieth + 1 more

In Europe, the term 'hypertrophic cardiomyopathy' (HCM) encompasses both primary, genetic forms and secondary, acquired forms. If echocardiography confirms wall thickening of the left ventricle without aclear connection to pathological stress conditions, atargeted differential diagnosis should be performed. Cardiac magnetic resonance imaging plays akey role in definitive diagnosis. Genetic testing should also be considered for many forms of HCM, especially for the common primary HCM. Stratification with regard to arrhythmia risk is mandatory for all patients with primary HCM. Symptomatic treatment is available, particularly in cases of relevant obstruction of the left ventricular outflow tract, in the form of catheter ablation or pharmacotherapy with myosin inhibitors. Transthyretin amyloid cardiomyopathy, the most common secondary form, can be treated specifically after exclusion of amyloid light-chain amyloidosis.

  • New
  • Research Article
  • 10.1111/phpp.70082
The Utilization of Optical Coherence Tomography in the Assessment of Melasma Activity and Differential Diagnosis.
  • Mar 1, 2026
  • Photodermatology, photoimmunology & photomedicine
  • Xiao Ma + 2 more

Melasma represents a prevalent facial hyperpigmentation disorder that predominantly affects Asian females. This study aims to assess the applicability of Optical Coherence Tomography (OCT) in the cases of melasma, Hori's nevus, and freckles and to summarize the features of OCT images. This single-center, evaluator-blinded, observational study was carried out at the Department of Dermatology, Peking Union Medical College Hospital from October 2024 to June 2025. All participants underwent noninvasive dermoscopy, reflectance confocal microscopy, and OCT examinations of lesional and perilesional areas. 47 patients with melasma, 6 patients with Hori's nevus, and 13 patients with freckles were included. 18 patients with melasma (38.3%) were categorized into the active stage, whereas 29 patients with melasma (61.7%) were classified into the stable stage. A disruption of the basement membrane zone exceeding 50% and blood vessel dilation were more frequently observed in the active stage (p < 0.05). In the context of differential diagnosis, a disruption of the basement membrane zone exceeding 50% can be regarded as a differentiating factor among melasma, Hori's nevus, and freckles (p < 0.05). OCT can unveil the characteristic features of different melasma stages and offer crucial information for melasma staging and differential diagnosis.

  • New
  • Research Article
  • 10.1002/brb3.71291
The Relationship Between Immune Semaphorins and Myasthenia Gravis.
  • Mar 1, 2026
  • Brain and behavior
  • Dilcan Kotan + 2 more

Myasthenia gravis (MG) is an autoimmune disease involving several immune mechanisms. Recently, semaphorins have emerged as potential diagnostic and prognostic biomarkers in autoimmune neurological and non-neurological diseases. This study investigated the role of immune semaphorins, namely semaphorins 3A, 3F, 4A, 4D, and 7A, in the diagnosis and prognosis of MG and their potential as biomarkers. Serum levels of semaphorin 3A, 3F, 4A, 4D, and 7A were compared between 41 patients with MG and 39 healthy controls. Patients were grouped according to the Myasthenia Gravis Activities of Daily Living scale, and differences in semaphorin levels between groups were analyzed. Semaphorin 4A levels were significantly lower, whereas semaphorin 7A levels were higher in patients with MG than in controls. However, no significant correlation was found between the disease stage and semaphorin levels. Our findings suggest that the levels of semaphorin 4A and 7A may not only support the diagnosis of MG and aid in differential diagnosis but also shed light on the development of future therapeutic protocols targeting semaphorin proteins and receptors in other autoimmune and inflammatory diseases.

  • New
  • Research Article
  • 10.1016/j.legalmed.2026.102797
Modular tools for the analysis of pulmonary histological images: A pilot study on the differential thanatological diagnosis between born alive and stillbirth.
  • Mar 1, 2026
  • Legal medicine (Tokyo, Japan)
  • Nappi Mariarita + 6 more

Modular tools for the analysis of pulmonary histological images: A pilot study on the differential thanatological diagnosis between born alive and stillbirth.

  • New
  • Research Article
  • Cite Count Icon 1
  • 10.1016/j.ijmedinf.2025.106172
Evaluating the performance of Large language models in rheumatology for connective tissue Diseases: DeepSeek-R1, ChatGPT-4.0, Copilot, and Gemini-2.0.
  • Mar 1, 2026
  • International journal of medical informatics
  • Gang Wang + 8 more

Evaluating the performance of Large language models in rheumatology for connective tissue Diseases: DeepSeek-R1, ChatGPT-4.0, Copilot, and Gemini-2.0.

  • New
  • Research Article
  • Cite Count Icon 1
  • 10.1177/03009858251367395
Aliarcobacter butzleri colitis in rhesus macaques (Macaca mulatta).
  • Mar 1, 2026
  • Veterinary pathology
  • Adam K Myers + 7 more

Aliarcobacter butzleri is a Campylobacter-like bacteria associated with watery diarrhea in humans and is infrequently reported in nonhuman primate (NHP) populations. While clinical and microscopic features in humans are indistinguishable from Campylobacter spp. infection, descriptions of A. butzleri-associated colitis in NHP are lacking. Here, we describe the clinical and pathological features of diarrhea and colitis associated with A. butzleri in rhesus macaques using a retrospective approach. Over a 3-year period, A. butzleri was isolated from 10 macaques with diarrhea. Five of the 10 were submitted for necropsy and had features of chronic enterocolitis, consistent with existing literature. However, 40% (2/5) of the cases were characterized by ulcerative colitis, which has not previously been described as a feature of A. butzleri colitis. A. butzleri should be considered a differential diagnosis in cases of diarrhea and enterocolitis in captive rhesus macaques.

  • New
  • Research Article
  • 10.1016/j.ijpp.2026.01.008
Cribra orbitalia and cribra cranii in perspective: Rethinking etiology through life course and ONE Paleopathology approaches.
  • Mar 1, 2026
  • International journal of paleopathology
  • Ricardo A M P Gomes + 1 more

Cribra orbitalia and cribra cranii in perspective: Rethinking etiology through life course and ONE Paleopathology approaches.

  • New
  • Research Article
  • 10.1542/pir.2025-006932
Eosinophilic Fasciitis in Pediatric Patients: A Rare but Distinct Autoimmune Fibrosing Disorder.
  • Mar 1, 2026
  • Pediatrics in review
  • Jeremy R Ellis + 1 more

Eosinophilic fasciitis (EF), or Shulman syndrome, first described in 1974, is a rare fibrosing disorder characterized by painful, symmetric swelling and progressive woody induration of skin and subcutaneous tissues. Although the pathogenesis remains unclear, EF is considered immune-mediated, often triggered by physical exertion, infections, or medications. Pediatric EF, a particularly uncommon subset, can exhibit distinct clinical features, including pronounced extracutaneous manifestations, unpredictable disease progression, and variable therapeutic responses. Clinical presentations range from rapidly advancing fibrosis leading to joint contractures to fluctuating inflammatory episodes. Diagnosis is challenging because of the absence of universal criteria, although peripheral eosinophilia, elevated inflammatory markers, and imaging findings support clinical suspicion. Definitive diagnosis depends on deep skin and fascial biopsy, revealing eosinophil-rich lymphoplasmacytic infiltrates and fibrosis. Management primarily relies on systemic corticosteroids, supplemented by steroid-sparing immunosuppressive medications in refractory cases. Early diagnosis and treatment are critical because untreated EF can cause irreversible fibrosis and significant functional impairment. The disease's rarity, heterogeneous presentations, and unclear etiology further complicate clinical management. Recent insights suggest EF may involve intricate interactions among environmental triggers, immune dysregulation, and fibrotic remodeling. This review aims to provide an updated overview of pediatric EF, highlighting current knowledge on clinical manifestations, diagnosis, differential diagnosis, therapeutic approaches, and outcomes, supported by an illustrative case, with emphasis on areas needing further research.

  • New
  • Research Article
  • 10.1002/dc.70065
Cytohistologic Diagnosis of Rosette-Forming Epithelioid Osteosarcoma.
  • Mar 1, 2026
  • Diagnostic cytopathology
  • Brant G Wang

Rosette-forming epithelioid osteosarcoma is an extremely rare type of osteosarcoma. This report describes a man in his early 50s with a destructive right iliac bone/acetabulum mass showing osseous destruction and extensive soft tissue involvement. Cytohistologic examination revealed osteosarcoma with epithelioid neoplastic cells arranged in rosettes. The neoplastic cells were immunoreactive for SATB2, TTF1, and CDX2. The osteoid was better appreciated in the H&E-stained materials. The cytohistological features, immunohistochemical profile, and differential diagnoses are discussed. Attention to details regarding the identification of osteoid in both cytology and histology materials is emphasized.

  • New
  • Research Article
  • 10.1016/j.ijpp.2025.11.003
A possible case of hypertrophic osteopathy in osteological remains representing cattle hide processing from a Roman villa in England.
  • Mar 1, 2026
  • International journal of paleopathology
  • Fay Worley + 3 more

A possible case of hypertrophic osteopathy in osteological remains representing cattle hide processing from a Roman villa in England.

  • New
  • Research Article
  • 10.1148/rg.250115
Endobronchial Lesions in Children: Radiologic, Bronchoscopic, and Pathologic Correlation.
  • Mar 1, 2026
  • Radiographics : a review publication of the Radiological Society of North America, Inc
  • Ankita Chauhan + 9 more

Endobronchial lesions in children are uncommon and have various causes and symptoms can be vague and nonspecific, thus making early and accurate diagnosis challenging. Infants may only present with segmental hyperinflation, persistent lobar consolidation, or respiratory distress. Children with endobronchial obstruction usually present with wheezing, persistent cough, recurrent fever, and hemoptysis. Obstructive symptoms are seen when the mass occludes more than one-half of the endobronchial lumen. Unilateral lobar consolidation on chest radiographs is frequently diagnosed as pneumonia, although it could be secondary to a clinically occult endobronchial lesion. Foreign body aspiration may occur at any age but should be excluded if a child younger than 4 years presents with choking, a cough, or dyspnea. The radiolucent nature of many foreign bodies, including organic material and plastics, increases the complexity of diagnosis. Endobronchial tumors become more common in older children but are most often benign. Although they are less common than they are in adults, primary malignant salivary gland tumors and carcinoid tumors do occur in children, although most are benign or low grade with a good prognosis. Endobronchial abnormalities should be considered in the differential diagnosis in children with respiratory symptoms refractory to standard medical treatment. Bronchoscopy plays a vital role in assessing endobronchial lesions with direct visualization and biopsy. Tissue diagnosis assists in determining the optimal treatment plan. Benign and malignant endobronchial pathologic processes in children are reviewed and the multidisciplinary approach to these often challenging diagnoses is discussed. ©RSNA, 2026 Supplemental material is available for this article.

  • New
  • Research Article
  • 10.1148/rg.250079
Silicosis Epidemic among Engineered Stone Countertop Workers: Pictorial Review.
  • Mar 1, 2026
  • Radiographics : a review publication of the Radiological Society of North America, Inc
  • Sundus Lateef + 7 more

Silicosis, the most common form of pneumoconiosis, results from the inhalation of respirable crystalline silica dust, which is defined as silicon dioxide particles small enough to penetrate lung tissue (<5 μm). Once considered a historical occupational disease primarily affecting miners, silicosis is reemerging among workers who process engineered stone countertops because of the higher silica content of engineered stone compared with natural stone materials (often termed engineered stone pneumoconiosis). The authors discuss imaging features of engineered stone silicosis based on a cohort of patients employed as engineered stone countertop workers in Southern California, one of the largest cohorts in the United States. Historically, silicosis has been described as predominantly chronic silicosis with upper lung-predominant small solid nodules with or without fibrosis, occasional accelerated silicosis, and rarely, acute silicosis. In the engineered stone worker patient cohort described in this article, accelerated silicosis and atypical imaging features at presentation (such as diffuse centrilobular-predominant nodules, superimposed ground-glass opacities, lower lung or cavitary large opacities, and concomitant infections) were more common than expected, which contributed to the initial underdiagnosis and misdiagnosis of silicosis. Furthermore, many patients demonstrated relevant extrapulmonary disease, such as cardiovascular and autoimmune disease. The radiologist plays a pivotal role in recognizing silicosis and including it in their differential diagnosis at patient presentation. Early diagnosis is crucial to prevent further exposure, since silicosis is currently considered incurable. The authors highlight the imaging findings of silicosis to raise awareness among radiologists about this emerging occupational lung disease. ©RSNA, 2026.

  • New
  • Research Article
  • 10.1016/j.path.2025.09.001
Primary Cutaneous Carcinomas with Neuroendocrine Differentiation.
  • Mar 1, 2026
  • Surgical pathology clinics
  • Thibault Kervarrec + 2 more

Primary Cutaneous Carcinomas with Neuroendocrine Differentiation.

  • New
  • Research Article
  • 10.1177/10406387251392592
Nutritional myopathy associated with selenium and copper deficiency in beef cattle in Argentina.
  • Mar 1, 2026
  • Journal of veterinary diagnostic investigation : official publication of the American Association of Veterinary Laboratory Diagnosticians, Inc
  • Damián J Castro + 4 more

Nutritional myopathy (NM) is a sporadic disease of growing cattle, mostly associated with selenium (Se) deficiency, and characterized by necrosis of striated muscle. There is scant literature about NM in adult cattle. We describe 2 clusters of gastrocnemius and serratus ventralis NM associated with Se and copper (Cu) deficiency in adult beef cattle in Argentina. Cluster 1 included bilateral dropped hocks in 5 cows. Grossly, the gastrocnemius muscles of both hindlimbs had symmetrical hemorrhagic foci surrounded by pale-yellow areas. Cluster 2 included bilateral dorsal scapular displacement in a cow and a heifer. The animals of cluster 2 had diffusely elongated and pale-white serratus ventralis muscles. Microscopically, the affected muscles of all of the animals in the 2 clusters had polyphasic degeneration and necrosis. We observed below-normal blood glutathione peroxidase activity and plasma Cu concentrations in affected and unaffected animals of both clusters. Liver and kidney Se concentrations were normal, likely because the animals had been supplemented with this mineral soon before death. Liver Cu was below the normal range in all autopsied animals. Cu deficiency could favor oxidative damage produced by Se deficiency and interfere with collagen synthesis in the epimysium, predisposing the animal to muscle injuries. Although NM is more frequent in growing cattle, it should also be considered among the differential diagnoses for lameness in adult cattle.

  • New
  • Research Article
  • 10.1097/cnd.0000000000000553
Pre-Plexal Extension of Parsonage-Turner Syndrome With Nerve Root Involvement on Needle Electromyography.
  • Mar 1, 2026
  • Journal of clinical neuromuscular disease
  • Cecilia V Mitchell + 6 more

Parsonage-Turner syndrome (PTS) is an inflammatory, immune-mediated neurogenic condition characterized by acute-onset, severe unilateral shoulder/upper arm pain followed by patchy weakness and atrophy. Often described as an idiopathic brachial plexitis, most cases of PTS involve the brachial plexus or its terminal branches, and root-level or paraspinal muscle involvement is rare. Among the differential diagnoses for proximal neuropathic root involvement, cervical radiculopathy by mechanical compression of the exiting nerve roots and diabetic cervical radiculoplexus neuropathy by way of immune-mediated microvasculitis, ischemic injury, and subsequent ischemic axonal damage should be considered. The latter also shares similar symptomatology to PTS with progression with subacute, painful, asymmetric involvement of the upper limb followed by atrophy and weakness of the limb. Here, we present a case of PTS with notable findings of cervical paraspinal muscle involvement on needle electromyography, highlighting a rare proximal, pre-plexal extension of this idiopathic inflammatory immune process.

  • New
  • Research Article
  • 10.1016/j.jpba.2025.117258
A quantitative, broad-panel LC-MS/MS method for the analysis of intact steroid conjugates: A novel approach to steroid profiling for biomarker research in corticoid-dependent diseases.
  • Mar 1, 2026
  • Journal of pharmaceutical and biomedical analysis
  • Eleanor North + 6 more

A quantitative, broad-panel LC-MS/MS method for the analysis of intact steroid conjugates: A novel approach to steroid profiling for biomarker research in corticoid-dependent diseases.

  • New
  • Research Article
  • 10.1016/j.survophthal.2025.09.012
Angioid streaks-related choroidal neovascularization: Clinical features, multimodal imaging-based differential diagnosis, and optimized treatment strategies.
  • Mar 1, 2026
  • Survey of ophthalmology
  • Antonio La Rosa + 6 more

Angioid streaks-related choroidal neovascularization: Clinical features, multimodal imaging-based differential diagnosis, and optimized treatment strategies.

  • New
  • Research Article
  • 10.7860/jcdr/2026/84188.22578
Lumbar Spine Pseudogout Mimicking Disc Prolapse and Radiculopathy: A Rare Case Report
  • Mar 1, 2026
  • JOURNAL OF CLINICAL AND DIAGNOSTIC RESEARCH
  • Aishwarya Manish Bhaskare + 4 more

Calcium Pyrophosphate Dihydrate (CPPD) deposition disease, also known as pseudogout, is a crystal-induced arthropathy that primarily affects larger, weight-bearing joints such as the knees, hips, and shoulders. CPPD can present with a wide spectrum of clinical manifestations, ranging from asymptomatic chondrocalcinosis to acute inflammatory arthritis. CPPD in the spine is rare and can lead to calcification of the ligamentum flavum, potentially causing spinal cord compression, myelopathy, and significant neurological impairment. The absence of chondrocalcinosis on imaging does not rule out the diagnosis of spinal CPPD. On microscopy, CPPD is characterised by rhomboid-shaped, positively birefringent crystals, in contrast to the needle-shaped, negatively birefringent crystals observed in gout. The present case report of a 78-year-old female highlights a rare and isolated clinical presentation of CPPD causing lumbar spine myelopathy, which was discovered incidentally on histopathology after spinal decompression and discectomy surgery. Although imaging modalities may raise suspicion for CPPD by revealing chondrocalcinosis, they often lack the specificity to differentiate it from other degenerative or inflammatory conditions. Histopathological analysis and polarised microscopic examination remain the cornerstones in diagnosing CPPD, even in atypical clinical presentations or ambiguous imaging findings. This underscores the importance of including pseudogout in the differential diagnosis of lumbar myelopathy, particularly in elderly patients, to provide early, targeted treatment and prevent severe irreversible neurological deficits.

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