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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)

  • Article
  • Open Access
1 Citations
2,137 Views
20 Pages

The Association of VDR, CYP2R1, and GC Gene Polymorphisms, Dietary Intake, and BMI in Regulating Vitamin D Status

  • Carmina Mariana Stroia,
  • Annamaria Pallag,
  • Maria Vrânceanu,
  • David de Lorenzo,
  • Keith Anthony Grimaldi,
  • Csaba Robert Pallag,
  • Kinga Vindis,
  • Diana Bei,
  • Cristina Burlou-Nagy (Fati) and
  • Timea Claudia Ghitea

14 July 2025

Vitamin D plays a crucial role in bone health and immune function, with serum 25(OH)D levels influenced by genetic, dietary, and metabolic factors. Background/Objectives: This study investigated the impact of VDR rs731236, CYP2R1 rs10741657, and GC r...

  • Article
  • Open Access
1 Citations
733 Views
14 Pages

From Blood to Outcome: Inflammatory Biomarkers in Rectal Cancer Surgery at a Romanian Tertiary Hospital

  • Georgiana Viorica Moise,
  • Catalin Vladut Ionut Feier,
  • Vasile Gaborean,
  • Alaviana Monique Faur,
  • Vladut Iosif Rus and
  • Calin Muntean

13 July 2025

Background: Systemic inflammatory markers have emerged as accessible and reproducible tools for oncologic risk stratification, yet their prognostic value in rectal cancer remains incompletely defined, particularly in acute surgical settings. This stu...

  • Article
  • Open Access
517 Views
16 Pages

12 July 2025

Background/Objectives: We aimed to determine how baseline TSH levels relate to clinical outcomes over a three-year follow-up in euthyroid patients with T2DR. Methods: This single-center retrospective cohort study included 363 euthyroid T2DR patients...

  • Article
  • Open Access
1 Citations
927 Views
16 Pages

Role of Renin–Angiotensin System and Macrophages in Breast Cancer Microenvironment

  • Abir Abdullah Alamro,
  • Moudhi Abdullah Almutlaq,
  • Amani Ahmed Alghamdi,
  • Atekah Hazzaa Alshammari,
  • Eman Alshehri and
  • Saba Abdi

10 July 2025

Background/Objectives: The renin–angiotensin system (RAS) is well-established as a moderator of cardiovascular equilibrium and blood pressure. Nevertheless, growing evidence indicates that angiotensin II (Ang II), the principal RAS effector pep...

  • Systematic Review
  • Open Access
1,227 Views
19 Pages

Optimizing Stereotactic Intracranial Neoplasm Treatment: A Systematic Review of PET Integration with Gamma Knife Radiosurgery

  • Robert C. Subtirelu,
  • Eric M. Teichner,
  • Milo Writer,
  • Kevin Bryan,
  • Shiv Patil,
  • Talha Khan,
  • Lancelot Herpin,
  • Raj N. Patel,
  • Emily Christner and
  • Chitra Parikh
  • + 3 authors

10 July 2025

Objective: Traditional imaging modalities for the planning of Gamma Knife radiosurgery (GKRS) are non-specific and do not accurately delineate intracranial neoplasms. This study aimed to evaluate the utility of positron emission tomography (PET) for...

  • Review
  • Open Access
797 Views
15 Pages

The incidence of pancreatic ductal adenocarcinoma (PDAC) is continuing to rise globally, while overall survival continues to be poor. Margin-negative (R0) surgical resection is essential to improve patient outcomes. With increasing understanding of t...

  • Article
  • Open Access
1,002 Views
15 Pages

Background: Uric acid has been proposed as a diabetogenic factor while its effect on pancreatic β cell function remains elusive. This study aimed to explore the impact of uric acid levels on β cell function and delineate its underlying mole...

  • Systematic Review
  • Open Access
1 Citations
1,232 Views
14 Pages

Analgesic and Neuroprotective Roles of Dexmedetomidine in Spine Surgery: A Systematic Review

  • Spyridoula Roberta Afrati,
  • Ioanna Lianou,
  • Angelos Kaspiris,
  • Vasileios Marougklianis,
  • Anastasia Kotanidou and
  • Spiros G. Pneumaticos

Objectives: The incidence of postoperative pain in patients that undergo spinal interventions is significantly increased, affecting their functional outcomes and quality of life. Dexmedetomidine (DEX) belongs to the category of centrally acting nonop...

  • Article
  • Open Access
783 Views
11 Pages

Impact of Race on Admission, Clinical Outcomes, and Disposition in Cholangiocarcinoma: Insights from the National Inpatient Database

  • Tijin A. Mathew,
  • Teresa M. Varghese,
  • Nithya Krishnakumaran,
  • George M. Varghese,
  • Khwaja S. Haq,
  • Akshita Khosla,
  • Rojymon Jacob and
  • Gina Vaccaro

Background: Cholangiocarcinoma, malignancies arising from the intrahepatic and extrahepatic bile ducts, has increased in incidence in the United States over the past few decades. The reported incidence of cholangiocarcinomas is high, particularly in...

  • Article
  • Open Access
1,871 Views
15 Pages

Persistent Changes in Hormones and Growth Factors Involved in Ageing in Patients That Recovered from Severe COVID-19

  • Alice Cuchi-Cabral,
  • André C. Palma,
  • Guilherme A. Nogueira,
  • Henrique Ceretta Oliveira,
  • Suzimar F. Benato Fusco,
  • Maria L. Moretti,
  • Licio A. Velloso and
  • Eliana P. Araujo

Background: The coronavirus disease-19 pandemic affected millions of people and its long-term impact on the health of survivors is under evaluation. Objectives: In this study, we hypothesized that severe coronavirus disease-19 could promote long-term...

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Diseases - ISSN 2079-9721