diagnosis – Medxy AI

An Adolescent With Neurosyphilis

By MedXY 10/22/2026

A 17-year-old boy presented with focal seizures and myoclonus, ultimately diagnosed with neurosyphilis following comprehensive evaluation including STI screening and CSF analysis.

news Radiology Rheumatology

Centralized Expert Review Enhances Diagnostic Accuracy in Axial Spondyloarthritis: Insights from a Multicenter Telemedicine Study

By MedXY 10/18/2026

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.

Cardiology Emergency Medicine news

Outcomes and Diagnostic Spectrum of Paramedic-Suspected STEMI: Insights from a Statewide Registry

By MedXY 10/14/2026

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.

Diabetes & Endocrinology news Pediatrics

Biallelic CYB5A Disruptions in 46, XY Disorders of Sex Development: Novel Missense and Deep Intronic Variants in Two Vietnamese Siblings

By MedXY 10/11/2026

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.

Gastroenterology news

An Unexpected Cause of Severe Steatohepatitis in a Young Male

By MedXY 10/05/2026

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.

Diabetes & Endocrinology Internal Medicine news

Optimizing Interpretation of Serial Aldosterone-to-Renin Ratio Measurements in Primary Aldosteronism Diagnosis

By MedXY 09/27/2026

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 concordant results.

news OB/GYN & Women’s Health

Laparoscopic Modified Davydov’s Technique for Vaginoplasty: Operative Steps and Technical Pearls

By MedXY 09/23/2026

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.

news Ophthalmology

Widening the Spectrum of Disease Expression due to Heterozygous Variants in EFEMP1

By MedXY 09/13/2026

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.

Cardiology news Respiratory

Early Identification of PVOD/PCH in Pulmonary Arterial Hypertension: Introducing a Novel Clinical Likelihood Score

By MedXY 09/10/2026

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.

Diabetes & Endocrinology Internal Medicine news

Cushing’s Syndrome in the Elderly: Diagnostic and Therapeutic Nuances in an Aging Population

By MedXY 09/08/2026

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.

Dermatology news

A patient with CHILD syndrome mimicking Hailey-Hailey disease: A diagnostic challenge

By MedXY 09/03/2026

We present a molecularly confirmed case of CHILD syndrome mimicking Hailey-Hailey disease without classical features, highlighting diagnostic pitfalls and benefits of targeted therapy.

Neurology news Otorhinolaryngology

Variable Effects of Vagus Nerve Stimulator Cycling on Vocal Fold Motion: A Videographic Case Series

By MedXY 08/31/2026

This case series examines eight patients experiencing dysphonia after vagus nerve stimulator placement, highlighting variable and transient vocal fold motion changes during device cycling.

Diabetes & Endocrinology news Pathology & Lab Medicine/Bệnh học

Enhanced Diagnosis of Primary Aldosteronism: Comparing LC-MS/MS and Immunoassay for Urinary Aldosterone Measurement

By MedXY 08/30/2026

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 for clinical use.

Infectious Diseases news Pediatrics

Congenital Tuberculosis in a 2-Week-Old Neonate With an Asymptomatic Mother

By MedXY 08/20/2026

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.

Critical Care news Psychiatry

Psychoactive Medication Prescribing After Critical Illness in American Adults Not Justified by a Documented Supporting Diagnosis

By MedXY 08/15/2026

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.

Diabetes & Endocrinology news Pediatrics

Extra-Endocrine Features in Infancy as Early Clues to Multiple Endocrine Neoplasia Type 2B: A Case Series from Bambino Gesù Children’s Hospital

By MedXY 08/14/2026

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.

news Respiratory

International Validation of Electronic Nose Technology as a Diagnostic Tool for Fibrotic Interstitial Lung Diseases

By MedXY 06/02/2026

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.

Allergy & Immunology news

Use of Teplizumab to Modulate Stage 2 Type 1 Diabetes in Two Individuals With Autoimmune Polyendocrine Syndrome 1

By MedXY 12/30/2025

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.

news Ophthalmology Rheumatology

Pentosan Polysulfate Maculopathy Following Subcutaneous Injections for Arthritis: A Case Series

By MedXY 12/26/2025

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.

news Ophthalmology Otorhinolaryngology

Clinical Findings and Molecular Genetics of USH1C-Associated Usher Syndrome: A Retrospective Case Series

By MedXY 11/27/2025

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.