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Diseases, Volume 13, Issue 7

July 2025 - 41 articles

Cover Story: Although Fanconi anemia (FA) is traditionally considered a pediatric disease characterized by short stature and an array of congenital abnormalities that prompt diagnostic consideration, the availability of next-generation sequencing is resulting in an increasing number of patients first being diagnosed as adults, many of whom lack classic physical stigmata. Similarly, while bone marrow failure is the most common presentation in children, adult patients may also present with myelodysplasia or AML. Clues to the underlying diagnosis of FA include abnormalities in chromosomes 1 and 3, marked toxicity after chemotherapy or even squamous cell cancers in the head and neck or anogenital region in young patients. Transplant is the only curative treatment but there is a lack of literature on the approach to the adult patient. View this paper
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Articles (41)

  • Systematic Review
  • Open Access
1,142 Views
15 Pages

21 July 2025

Background: The management of end-stage renal disease (ESRD) is undergoing a paradigm shift, with increasing emphasis on kidney transplantation as a preferred treatment modality for elderly patients (≥65 years), who constitute a substantial portio...

  • Case Report
  • Open Access
1,309 Views
8 Pages

An Unusual Case of Anuric Acute Kidney Injury Secondary to the Use of Low-Dose Acetazolamide as Preventive Management for Acute Mountain Sickness

  • Marco Dominguez Davalos,
  • Raúl Valenzuela Córdova,
  • Celia Rodríguez Tudero,
  • Elena Jiménez Mayor,
  • Carlos Bedia Castillo,
  • José C. De La Flor,
  • Roger Leon Montesinos,
  • Cristian León Rabanal,
  • Michael Cieza Terrones and
  • Javier A. Neyra

21 July 2025

Background/Objectives: Acetazolamide is widely used for acute mountain sickness (AMS) prophylaxis. Whilst generally safe, acute kidney injury (AKI) is a rare but serious adverse event. We present a case of anuric AKI following minimal exposure to ace...

  • Review
  • Open Access
2,920 Views
15 Pages

Therapeutic Implications of Menin Inhibitors in the Treatment of Acute Leukemia: A Critical Review

  • Martina Canichella,
  • Cristina Papayannidis,
  • Carla Mazzone and
  • Paolo de Fabritiis

19 July 2025

Menin inhibitors are a class of targeted agents that exemplify how a deeper understanding of leukemia pathogenesis can unify seemingly distinct genetic acute leukemia subgroups under a common therapeutic strategy. In particular, acute leukemia with N...

  • Case Report
  • Open Access
717 Views
8 Pages

Endovascular Treatment of a Symptomatic Vertebral Artery Aneurysm in a Puerperal Patient with Neurofibromatosis Type 1—A Case Report and Review of the Literature

  • Nikola Mirkovic,
  • Marko Prokic,
  • Nikola Prodanovic,
  • Tamara Nikolic Turnic,
  • Nikola Andric,
  • Tijana Prodanovic,
  • Neda Arsenijevic,
  • Ivan Simic,
  • Dragan Knezevic and
  • Aleksandar Matic

18 July 2025

Introduction: Primary extracranial vertebral artery aneurysms are sporadic in the general population. They are uncommon in individuals with neurofibromatosis type 1. During pregnancy or in the puerperium, the risk of aneurysm rupture in individuals w...

  • Review
  • Open Access
1,442 Views
13 Pages

Efficacy of Dupilumab in a Young Woman with Refractory Cutaneous Lichen Planus: A Case-Based Review

  • Cristina Guerriero,
  • Luisa Boeti,
  • Francesco Mastellone,
  • Giulia Coscarella,
  • Gennaro Marco Falco,
  • Gerardo Palmisano,
  • Helena Pelanda,
  • Ketty Peris and
  • Donato Rigante

18 July 2025

Background: Cutaneous lichen planus (CLP) is a chronic inflammatory T cell-mediated disease driven by a mixed Th1 and Th2 lymphocyte population, for which many of the currently available treatments have poor efficacy. Aim: The aim of this study was t...

  • Case Report
  • Open Access
1 Citations
1,282 Views
8 Pages

Atypical Rapid Onset of Olmesartan-Induced Enteropathy with Recurrence After Rechallenging

  • Lila Bekkai,
  • Aymen Ibn Majah,
  • Laurine Verset,
  • Lucas Jacobs,
  • Charline Danneel,
  • Okyay Elkilic,
  • Frédéric Collart,
  • Joëlle Nortier and
  • Maxime Taghavi

18 July 2025

Background: Olmesartan-induced enteropathy is a rare complication of a widely used angiotensin II receptor blocker. Patients usually present with chronic diarrhea and weight loss. Histologically, villous atrophy and intraepithelial lymphocyte infiltr...

  • Article
  • Open Access
809 Views
9 Pages

18 July 2025

Background: Cataract is the leading cause of severe, non-traumatic vision loss worldwide, leading to multiple adverse outcomes in mental health, including depression, anxiety, and cognitive decline; however, the relationship to psychotic symptoms rem...

  • Article
  • Open Access
1,150 Views
14 Pages

Establishing the First Genetic Variant Registry for Breast and Ovarian Cancer in Colombia: Insights and Implications

  • Robert de Deugd,
  • Julián Camilo Riano,
  • Esther de Vries,
  • Andrés F. Cardona,
  • July Rodriguez,
  • Ana Fidalgo-Zapata,
  • Yesid Sanchez,
  • Santiago Sanchez,
  • Justo Olaya and
  • Daniel de Leon
  • + 6 authors

18 July 2025

Background: Genetic insights from diverse populations are key to advancing cancer detection, treatment, and prevention. Unlike other Latin American countries, Colombia lacks a centralized registry for germline and somatic mutations in breast and ovar...

  • Review
  • Open Access
2,705 Views
25 Pages

15 July 2025

Background: Cardiovascular disease (CVD) is very widespread in countries with a Western-style diet, representing one of the major causes of morbidity. Genetic factors, obesity, diabetes, dyslipidemia, smoking, and ageing are risk factors for CVD outc...

  • Brief Report
  • Open Access
806 Views
11 Pages

Myxoid Liposarcoma of the Thigh in Early Puerperium—Rare Case Report and Narrative Review

  • Tomasz Machałowski,
  • Piotr Gutowski,
  • Edyta Zagrodnik,
  • Aleksandra Godlewska,
  • Katarzyna Śmieja,
  • Oliwia Kawałek,
  • Anna Grzymała-Figura,
  • Sylwester Michał Ciećwież,
  • Katarzyna Gross-Kępińska and
  • Małgorzata Szczuko
  • + 1 author

14 July 2025

Background: Liposarcoma (LPS) is a rare malignant tumor, but it is also one of the most common adult soft-tissue sarcomas. Myxoid liposarcoma (MLPS) accounts for 30% of all LPS cases. Diagnosis during pregnancy and the puerperium is very rarely repor...

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Diseases - ISSN 2079-9721