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This review synthesizes evidence on the characteristic clinical and histopathologic features of condyloma lata in secondary syphilis, emphasizing its reliable recognition to prevent misdiagnosis, especially at extragenital sites.
Centralized clinical and imaging evaluation via telemedicine significantly improves diagnostic accuracy in patients suspected of axial spondyloarthritis, reducing misdiagnoses and guiding more precise patient management.
Paramedic-suspected STEMI identified a heterogeneous, high-acuity population where 60% had confirmed STEMI; outcomes vary by final diagnosis, underscoring the need for rapid reperfusion with early diagnostic refinement.
This report describes two siblings with 46,XY DSD caused by novel biallelic CYB5A variants including a missense and a deep intronic mutation disrupting splicing, expanding knowledge of CYB5A-related disorders.
A 24-year-old obese male presents with incidental liver abnormalities; imaging reveals severe steatohepatitis with unusual features prompting detailed diagnostic evaluation and management strategies.
This article evaluates strategies for interpreting consecutive aldosterone-to-renin ratio tests in primary aldosteronism diagnosis, highlighting the diagnostic trade-offs and guiding clinical decision-making based on discordant or concordan
A 21-year-old woman with Müllerian agenesis underwent a standardized laparoscopic modified Davydov vaginoplasty, achieving an 11 cm neovagina with intact function and no complications at 6-month follow-up.
A case series delineating a novel EFEMP1 variant, p.Arg140Trp, associated with late-onset peripheral retinal degeneration distinct from classic DHRD/ML, highlighting rod dysfunction precedes structural changes.
A newly developed clinical likelihood score accurately distinguishes pulmonary arterial hypertension patients with venous or capillary involvement (PVOD/PCH), enabling earlier diagnosis, tailored therapy, and timely transplant referral.
Cushing’s syndrome in older adults requires a tailored diagnostic approach and individualized management that prioritizes functional status and quality of life over chronological age, accounting for atypical presentations and comorbidities.
We present a molecularly confirmed case of CHILD syndrome mimicking Hailey-Hailey disease without classical features, highlighting diagnostic pitfalls and benefits of targeted therapy.
This case series examines eight patients experiencing dysphonia after vagus nerve stimulator placement, highlighting variable and transient vocal fold motion changes during device cycling.
This study demonstrates that urinary aldosterone measurement by LC-MS/MS outperforms immunoassay in diagnosing primary aldosteronism, especially when urinary sodium is within an optimal range, offering improved sensitivity and specificity f
A 2-week-old neonate developed congenital tuberculosis despite an asymptomatic mother, illustrating diagnostic challenges and the need for heightened awareness of TB in pregnancy.
Nearly half of psychoactive medications newly prescribed after ICU stays in American adults lack documented diagnostic justification, persisting for up to two years post-hospitalization.
We report five pediatric MEN2B cases highlighting early extra-endocrine signs such as persistent constipation and alacrimia, enabling prompt genetic diagnosis and thyroidectomy before medullary thyroid carcinoma progression.
An international study found that electronic nose breath analysis can distinguish fibrotic interstitial lung disease subtypes with good accuracy, suggesting a promising noninvasive tool to support diagnosis.
This case report explores the immunomodulatory effects of teplizumab in two adolescents with APS-1-associated stage 2 T1D, highlighting potential for preservation of β-cell function.
Three cases of pentosan polysulfate maculopathy occurred after subcutaneous administration for arthritis at much lower cumulative doses than oral use, highlighting retinal toxicity risk and need for early detection.
This case series reviews clinical features, genetic variants, visual outcomes, and psychosocial impact in 28 patients with USH1C-associated Usher syndrome, highlighting slow retinal degeneration and significant social burden.
