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The early postoperative period in infants following the correction of congenital heart defects is often accompanied by hemodynamic lability, systemic stress, and an acute-phase response, which may lead to transient organ...

Aim: Redox-oxidative dysregulation is implicated in the aetiology of several diseases, including schizophrenia, with a possible influence on clinical symptoms. This study investigated the influence of redox, lipid peroxi...

BackgroundCurrent prognostic models for cerebral venous sinus thrombosis (CVST) inadequately predict long-term cognitive and functional outcomes, focusing primarily on survival. We aimed to develop and validate a simple,...

Sepsis remains one of the most complex and lethal syndromes in pediatric critical care, driven by dysregulated and heterogeneous host responses to infection. Despite decades of biomarker research, few biomarkers have bee...

Category: Ankle, Basic Sciences/Biologics Keywords: Achilles Tendon Rupture, Achilles Tendon, Achilles Tendon Repair Introduction/Purpose: Peroneal tendon disease (PerTD) is a major cause of lateral ankle pain, including...

Abstract Background Outcomes after curative-intent sarcoma surgery vary substantially and are incompletely explained by tumor-centered factors alone. Although CT-based body composition metrics provide objective host-rela...

Abstract Background Bipolar disorder (BD) typically emerges during adolescence and is associated with substantial functional impairment, but objective physiological markers are scarce. The niacin skin flushing response (...

Introduction and aims: Skeletal Class II malocclusion is heterogeneous, and conventional two-dimensional cephalometry may not fully capture relevant three-dimensional (3D) craniofacial variation. This study aimed to iden...

ObjectiveTo identify sleep-disordered breathing phenotypes in older adults with depressive disorder and obstructive sleep apnea-hypopnea syndrome (OSAHS) and to evaluate their associations with systemic inflammation.Meth...

BackgroundTranscription factor forkhead box protein N1 (FOXN1) is the master transcription factor required for differentiation and maintenance of thymic epithelial cells (TECs) and is not only required for embryonic thym...

IntroductionRNU4ATAC-opathies are characterized by biallelic pathogenic variants and include three recognized phenotypes: autosomal recessive Roifman syndrome, microcephalic osteodysplastic primordial dwarfism (MOPD), an...

Abstract Background Down syndrome (DS), a prevalent chromosomal disorder, is generally characterized by distinctive facial features and congenital anomalies. Transient abnormal myelopoiesis (TAM) is a transient myeloprol...

We previously reported that inherited human retinoic acid-related orphan receptor gamma T (RORγT) deficiency underlies mycobacterial disease and chronic mucocutaneous candidiasis (CMC) in seven patients from three ances...

Inborn errors of immunity (IEI) are increasing in number, and prompt recognition and diagnosis remain a challenge for clinicians. Use of machine learning (ML) for clinical pattern recognition is promising but has been li...

IntroductionInborn errors of interferon response factors (IRFs) are a subset of monogenic inborn errors of immunity, occurring as a result of damaging variants in the IRF genes. Of these diseases, IRF4 deficiencies are a...

Abstract Background Lymphocytosis is relatively common in cats, but few studies describe lymphocyte populations or the clinical course associated with different immunophenotypic expansions. Hypothesis/Objectives We hypot...

Kai Chen,1,* Yiqing Nong,1,* Ying Liu,2 Ziming Ye3 1Department of Neurology, Guangxi Medical University Kaiyuan Langdong Hospital, Nanning, 530023, People’s Republic of China; 2Department of Rehabilitat...

Abstract BackgroundCardiovascular magnetic resonance (CMR) is widely used across various cardiac conditions and systematically assesses cardiac anatomical structures and functional dynamics. Machine learning ...

Abstract Background Human patients with Ehlers‐Danlos syndrome (EDS) are categorized into subtypes based on causative genetic variants and phenotypes. The classical form of EDS, primarily caused by variants in COL5A1 o...

BackgroundNFKB1 encodes the p105/p50 nuclear factor-kappa-B (NF-κB1) transcription factor. Heterozygous mutations in NFKB1 are associated with NFKB1-related disease, including granulomatous-lymphocytic interstitial lung...

BackgroundThe cytotoxic T lymphocyte-associated protein 4 (CTLA-4) is a well-known immune checkpoint inhibitor. Heterozygous germline mutations in CTLA4 in humans lead to immune deficiency, autoimmunity, auto-inflammatio...

Biallelic deficiencies of CD27 and its ligand CD70 underlie selective susceptibility to Epstein-Barr virus (EBV) infection and its acute and chronic complications, underscoring their nonredundant roles in anti-EBV immuni...

Abstract Although information on minor blood group antigen frequencies is limited in many low- and middle-income countries, extended red blood cell (RBC) phenotyping is crucial for reducing alloimmunization in patients u...

Abstract Purpose Triple-negative breast cancer (TNBC) displays an aggressive clinicopathological profile. Despite cytotoxic chemotherapy being the primary systemic therapy, complete responses are achieved in fewer than 3...