diagnosis – Medxy AI

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.

Infectious Diseases Neurology news

Emergence of a Novel Mammarenavirus Closely Related to Lassa Virus in a Patient with Meningoencephalitis in Chad

By MedXY 11/13/2025

A 37-year-old man developed meningoencephalitis caused by a novel mammarenavirus genetically related to Lassa virus after travel to Chad, highlighting emergence of a new pathogen with distinct clinical features.

Hematology-Oncology news Pediatrics

Understanding ‘Favism’: Diagnosis, Treatment, and Living with G6PD Deficiency

By MedXY 11/01/2025

Favism, a hereditary enzyme deficiency causing red blood cell breakdown upon exposure to certain triggers like fava beans, is preventable with proper diagnosis and management. This article explores its clinical features, diagnosis, treatment, and lifestyle adaptations.

news

Revolutionizing Endometriosis Diagnosis: Validation of a Saliva-Based microRNA Signature

By MedXY 10/30/2025

A prospective multicenter study validates the high accuracy of a saliva microRNA signature for noninvasive endometriosis diagnosis, demonstrating superior performance to imaging modalities and promising clinical utility.

Dermatology news Pediatrics

Oral Manifestations of Lamellar Ichthyosis: A Case Report of Two Siblings

By MedXY 10/25/2025

Two brothers with lamellar ichthyosis presented with enamel defects and dental caries; dental rehabilitation with preventive measures was completed alongside dermatologic care.

Dentistry Plastic Surgery Rehabilitation Medicine

Minimally Invasive Ceramic Laminate Veneers for Maxillary Anterior Esthetic Rehabilitation: A 12+ Years Follow-Up

By MedXY 10/24/2025

This case report details a long-term successful esthetic rehabilitation using thin feldspathic ceramic laminate veneers to close diastemas and improve tooth morphology, with a follow-up exceeding 12 years.

Neurology news Ophthalmology

Vogt-Koyanagi-Harada Syndrome Presenting with Ophthalmic and Neurological Symptoms: A Case Report

By MedXY 10/05/2025

A 38-year-old male with bilateral blurred vision and neurological symptoms was diagnosed with Vogt-Koyanagi-Harada syndrome and managed successfully with corticosteroids and immunosuppressants.

Gastroenterology news Specialties

Primary Sclerosing Cholangitis in a 45-Year-Old Male: A Case Report

By MedXY 10/02/2025

A 45-year-old male presents with cholestatic liver enzyme elevation and pruritus, diagnosed with primary sclerosing cholangitis confirmed by imaging and liver biopsy. Clinical management and prognosis are discussed.