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  • Article
  • Open Access

Toward Graph-Based Decoding of Tumor Evolution: Spatial Inference of Copy Number Variations

  • Yujia Zhang,
  • Yitao Yang,
  • Yan Kong,
  • Bingxu Zhong,
  • Kenta Nakai and
  • Hui Lu
Diagnostics2025, 15(24), 3169;https://doi.org/10.3390/diagnostics15243169 
(registering DOI)

12 December 2025

Background/Objectives: Constructing a comprehensive spatiotemporal map of tumor heterogeneity is essential for understanding tumor evolution, with copy number variation (CNV) being a significant feature. Existing studies often rely on tools originall...

  • Case Report
  • Open Access

First Symptomatic Pediatric Case of Hb Rothschild (HBB: c.112T>C, p.Trp38Arg): Low-Oxygen-Affinity Hemoglobin Presenting with Persistent Pseudohypoxemia

  • Ekaterina Nuzhnaya,
  • Andrey Marakhonov,
  • Artem Ivanov,
  • Yulia Lashkova,
  • Ivan Kuznetsov,
  • Tatiana Kulichenko,
  • Ksenya Zabudskaya,
  • Oxana Ryzhkova,
  • Nikolay Zernov and
  • Natalia Semenova

12 December 2025

Background: Hemoglobin Rothschild (Hb Rothschild), NM_000518.5(HBB):c.112T>C, is an ultra-rare low-oxygen-affinity hemoglobin variant that persistently causes reduced peripheral oxygen saturation on pulse oximetry despite normal arterial oxygenati...

  • Article
  • Open Access

Analytical Validation of a Serum Biomarker Signature for Detection of Early-Stage Pancreatic Ductal Adenocarcinoma

  • Robyn Pescatore,
  • Naphtali Milliken,
  • Thomas King,
  • Dillon Josey,
  • Norma A. Palma and
  • Lisa Ford

12 December 2025

Background/Objectives: Early detection of pancreatic ductal adenocarcinoma (PDAC) can improve patient survival and biomarkers to facilitate this are greatly needed. We recently reported a serum biomarker signature comprising tissue inhibitor of metal...

  • Interesting Images
  • Open Access

Vestibulocochlear Neuritis as a Paradoxical Reaction in an Immunocompetent Patient with Tuberculous Meningitis

  • Sekai Tsujimoto,
  • Koji Hayashi,
  • Mamiko Sato,
  • Yuka Nakaya,
  • Toyoaki Miura and
  • Yasutaka Kobayashi

12 December 2025

A 30-year-old previously healthy man presented with fever and headache. HIV tests yielded negative results. Cerebrospinal fluid (CSF) analysis revealed pleocytosis (619/µL), elevated protein (210.3 mg/dL) and adenosine deaminase levels, and dec...

  • Article
  • Open Access

12 December 2025

Background: Dysphagia from aging, neurodegeneration, structural anomalies, or cognitive decline harms quality of life. The videofluoroscopic swallowing study (VFSS) is the diagnostic gold standard but manual interpretation is labor-intensive and cost...

  • Article
  • Open Access

A Specific Haplotype of the MMP2 Gene Promoter May Increase the Risk of Developing Cerebral Palsy

  • Ana Djuranovic Uklein,
  • Natasa Cerovac,
  • Dijana Perovic,
  • Nela Maksimovic,
  • Biljana Jekic,
  • Milka Grk,
  • Marija Dusanovic Pjevic,
  • Milica Rasic,
  • Natasa Stojanovski and
  • Milica Pesic
  • + 2 authors

12 December 2025

Background/Objectives: Hypoxic–ischemic encephalopathy (HIE) is a common neurological outcome of perinatal asphyxia, with cerebral palsy (CP) being the most severe lasting effect. Perinatal brain injury activates the immune system and induces t...

  • Case Report
  • Open Access

Forensic Autopsy in a Long-Term Survivor of Abusive Head Trauma: An Unusual Case Report

  • Jessika Camatti,
  • Maria Paola Bonasoni,
  • Rossana Cecchi,
  • Anna Laura Santunione,
  • Giancarlo Gargano,
  • Giorgio Gualandri and
  • Erjon Radheshi

12 December 2025

Background and Clinical Significance: Abusive head trauma (AHT), formerly known as Shaken Baby Syndrome (SBS), is a major cause of morbidity and mortality in infants and young children. While the forensic aspects of acute AHT are well described, auto...

  • Case Report
  • Open Access

Tumefactive Demyelinating Lesion Mimicking Low-Grade Astrocytoma with a T2/FLAIR Mismatch Sign: A Case Report and Review of the Literature

  • Maria Karhu,
  • Roberts Tumeļkāns,
  • Dace Dzirkale,
  • Kaspars Auslands,
  • Can Özütemiz,
  • Alīna Flintere Flinte and
  • Arturs Balodis

12 December 2025

Background and Clinical Significance: Tumefactive demyelinating lesions (TDLs) are large demyelinating lesions that mimic intracranial tumors, posing a diagnostic challenge in both clinical presentation and conventional imaging. Distinguishing TDLs f...

  • Article
  • Open Access

12 December 2025

Background: Timely identification of individuals at elevated risk for gastric cancer (GC) within routine care could enable earlier endoscopy and referral. We posit that cancers within the gastrointestinal/hepatopancreatobiliary spectrum share signals...

  • Interesting Images
  • Open Access

Rare Case of Squamous Cell Carcinoma Arising from an Intraosseous Epidermal Cyst: A Diagnostic Challenge

  • Jiro Ichikawa,
  • Kojiro Onohara,
  • Tomohiro Inoue,
  • Masanori Wako,
  • Tetsuhiro Hagino,
  • Kouhei Mitsui,
  • Tomonori Kawasaki and
  • Hirotaka Haro

12 December 2025

We report a rare case of squamous cell carcinoma (SCC) arising from an intraosseous epidermal cyst (EC) in the distal phalanx of the left thumb. A 76-year-old male presented with progressive thumb pain experienced over the previous six months. Radiog...

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Diagnostics - ISSN 2075-4418