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

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

By MedXY|Sep 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.

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

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

By MedXY|Sep 11, 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.

Cushing’s Syndrome in the Elderly: Diagnostic and Therapeutic Nuances in an Aging Population
Diabetes & EndocrinologyCushing's SyndromeHypercortisolism

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

By MedXY|Sep 8, 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.

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

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

By MedXY|Sep 3, 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.

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

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

By MedXY|Aug 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.

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

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

By MedXY|Aug 29, 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 f

Congenital Tuberculosis in a 2-Week-Old Neonate With an Asymptomatic Mother
Infectious Diseasestuberculosisneonatal infectious disease

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

By MedXY|Aug 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.

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

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

By MedXY|Aug 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.

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

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|Aug 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.

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

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

By MedXY|Jun 2, 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.

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

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

By MedXY|Dec 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.

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

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

By MedXY|Dec 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.

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

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

By MedXY|Nov 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.

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

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

By MedXY|Nov 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.

Understanding ‘Favism’: Diagnosis, Treatment, and Living with G6PD Deficiency
Hematology-OncologydiagnosisHemolytic Anemia

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

By MedXY|Nov 1, 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, treatmen

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

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

By MedXY|Oct 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.

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

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

By MedXY|Oct 25, 2025

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

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

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

By MedXY|Oct 23, 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.

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

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

By MedXY|Oct 5, 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.

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

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

By MedXY|Oct 6, 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.

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