Search Results (557)

Background/Objectives: Congenital laryngomalacia (LM) is the most common cause of stridor in infants, presenting with a clinical spectrum that ranges from benign, self-limiting symptoms to severe airway obstruction. This study aimed to objectively characterize the type and severity of sleep-disordered breathing in infants with LM using polysomnography (PSG) and to correlate findings with LM subtypes, clinical presentation, and type of surgical intervention. Methods: A cohort of 42 infants diagnosed with LM (Type I: n = 14, Type II: n = 18, Type III: n = 10) underwent overnight PSG before surgical treatment. The Apnea–Hypopnea Index (AHI), Oxygen Desaturation Index (ODI), minimum and mean SpO₂, and heart rate were recorded. Clinical features (stridor, feeding difficulties, respiratory effort) and type of surgery (supraglottoplasty [S] or supraglottoplasty with epiglottopexy [S + E]) were analyzed across LM subtypes. Results: Baseline AHI was significantly higher in LM Type III (25.41 ± 6.95 events/h) compared with Type II (12.50 ± 5.05) and Type I (2.84 ± 1.96; p < 0.001). After surgery, AHI decreased to 1.76 ± 1.56 in Type III and 0.97 ± 0.70 in Type II. ODI showed a similar trend (Type III: 9.87 ± 5.99 before vs. 0.78 ± 0.69 after surgery; p < 0.001). Minimum SpO₂ increased from 69.50 ± 7.76% to 93.60 ± 1.82% in Type III (p < 0.001). Feeding difficulties were observed in 100% of Type III patients, compared with 83.3% of Type II and 42.9% of Type I patients. The distribution of apnea type differed significantly across groups (p < 0.001), with mixed obstructive–central apnea predominating in Type III. Conclusions: Polysomnography is an effective and objective tool for assessing LM severity and guiding surgical qualification. Increasing LM severity is associated with more pronounced PSG abnormalities, greater clinical burden, and a higher likelihood of requiring advanced surgical correction. Full article

Background/Objectives: Influenza A viruses—including highly pathogenic H5N1—remain a global threat due to rapid evolution, zoonoses, and pandemic potential. Strain-specific vaccines targeting variable antigens often yield limited, short-lived immunity. The HA receptor-binding domain (RBD), a functionally constrained and immunologically relevant region, is a promising target for broad and subtype-focused vaccines. We aimed to design multiepitope constructs targeting conserved HA-RBD and adjacent domains to elicit robust, durable, cross-protective responses. Methods: Extensive sequence analyses (>20,000 H5N1 and >190,000 influenza A sequences) were used to derive consensus sequences. Three HA-based candidates were developed: (i) EpitoCore-HA-VX, a multi-epitope construct containing CTL, HTL, and B-cell epitopes from the H5N1 HA-RBD; (ii) StructiRBD-HA-VX, incorporating a conformationally preserved RBD segment; and (iii) FusiCon-HA-VX, targeting the conserved HA fusion peptide shared across subtypes. Two external HA comparators—a 400-aa HA fragment and the literature-reported HA-13–263-Fd-His—were analyzed under the same pipeline. The workflow predicted epitopes; evaluated antigenicity, allergenicity, toxicity, conservation, and HLA coverage; generated AlphaFold models; performed TLR2/TLR4 docking with pyDockWEB; and carried out interface analysis with PDBsum; and C-ImmSim simulations. Results: Models suggested stable, energetically favorable TLR2/TLR4 interfaces supported by substantial binding surfaces and complementary electrostatic/desolvation profiles. Distinct docking patterns indicated receptor-binding flexibility. Immune simulations predicted strong humoral responses with modeled memory formation and, for the H5N1-focused designs, cytotoxic T-cell activity. All candidates and comparators were predicted to be antigenic, non-allergenic, and non-toxic, with combined HLA coverage approaching global breadth. Conclusions: This study compares three design strategies within a harmonized framework—epitope collation, structure-preserved RBD, and fusion-peptide targeting—while benchmarking against two HA comparators. EpitoCore-HA-VX and StructiRBD-HA-VX showed promise against diverse H5N1 isolates, whereas FusiCon-HA-VX supported cross-subtype coverage. As these findings are model-based, they should be interpreted qualitatively; nonetheless, the integrated, structure-guided approach provides an adaptable path for advancing targeted H5N1 and broader influenza A vaccine concepts. Full article

H1N1 influenza, also known as swine flu, is a subtype of the influenza A virus that can infect humans, pigs, and birds. Sensitivity analysis and optimal control studies play a crucial role in understanding the dynamics of H1N1 influenza. In this study, we have derived a mathematical model incorporating both symptomatic and asymptomatic infections, as well as vaccination, to assess the impact of key parameters on disease transmission. Also, we have assumed a density-dependent infection transmission in the modeling process of H1N1 dynamics. We determine the basic reproduction number using the next-generation matrix method and found that the disease-free equilibrium is stable when the basic reproduction number $R_0<1$ and the endemic equilibrium exists and is stable globally when $R_0>1$. By performing sensitivity analysis, the most influential factors affecting infection spread are identified, aiding in targeted intervention strategies. Optimal control techniques are then applied to determine the best approaches to minimize infections while considering resource constraints. The findings provide valuable insights for public health policies, offering effective strategies for mitigating H1N1 outbreaks and enhancing disease management efforts using optimal vaccination. Full article

Whole-genome sequence (WGS) analysis was used in this study to characterize Shiga toxin-producing Escherichia coli (STEC) isolates in free-ranging red deer from the central Italian Alps. Fecal samples from 92 hunted red deer collected between September and December 2022 were analyzed for the presence of STEC. Single E. coli colonies positive by PCR for stx genes were analyzed by WGS. STEC were isolated from eleven (12%) samples, showing eight stx2b, one stx2a, two stx1c, and one stx1a subtypes. Different serotypes and sequence types were identified (n = 8 each). Three isolates of O27:H30 serotype and ST753 showed no correlation in the cgMLST analysis (AD range 44–98). All strains harbored additional virulence factors. The only isolate harboring stx2a also possessed the eae gene and belonged to serotype O26:H11. Some isolates displayed shuffled virulence features of more than one E. coli pathotype. The high genetic diversity of strains circulating in the red deer population living in the central Italian Alps, including the STEC O26:H11 strain associated with STEC from severe disease in humans, confirms red deer as STEC reservoirs and highlights the need for monitoring the presence of these pathogens in wild ruminants. Full article

Background: Older adults who are hospitalized in internal medicine wards often present with a challenging interplay of multimorbidity and geriatric syndromes. The timely identification of clinical and geriatric predictors of in-hospital mortality is crucial for guiding individualized care pathways and ensure appropriate resource allocation. In this study, we investigate the prognostic impact of frailty, delirium—including its motor subtypes—and global comorbidity burden on in-hospital mortality in patients aged 70 years and older. Methods: We conducted a retrospective observational study including 556 consecutive patients aged ≥ 70 years who were admitted to the Internal Medicine Unit of the University Hospital of Parma from January 2019 to July 2019. Demographic, clinical, and geriatric data were collected within 48 h of admission, including Clinical Frailty Scale (CFS), Cumulative Illness Rating Scale (CIRS), and delirium diagnosis with the 4AT tool. Multivariate Cox and logistic regression analyses were performed, including sex-stratified models. Results: The median age was 85 years (IQR 80–89), 58% were female, and in-hospital mortality was 11% (n = 61). Non-survivors had higher rates of severe frailty (CFS ≥ 7: 39% vs. 16%, p < 0.001), prevalent delirium (20% vs. 4%, p < 0.001), hypokinetic delirium (20% vs. 5%, p < 0.001), liver disease (23% vs. 11%, p = 0.008), cancer (44% vs. 24%, p < 0.001), and dementia (43% vs. 29%, p = 0.026) and a higher CIRS severity index (≥3:55% vs. 31%, p < 0.001). In Cox regression, independent predictors of death were prevalent delirium (HR 4.66, 95% CI 2.42–8.96), CFS ≥ 7 (HR 2.26, 95% CI 1.32–3.87), CIRS-LIVER ≥ 2 (HR 2.05, 95% CI 1.18–3.56), and cancer (HR 1.83, 95% CI 1.07–3.14). Sex-stratified models showed that in males, prevalent delirium (HR 10.23) and cancer (HR 2.49) predicted mortality, whereas in females, hypokinetic delirium (HR 3.67) and CIRS-LIVER ≥ 2 (HR 2.75) were the strongest predictors. Logistic regression confirmed these associations and additionally identified anemia and CFS ≥ 7 in males and CIRS severity index ≥ 3 in females as significant risk factors. Conclusions: In elderly patients who are admitted to internal medicine wards, prevalent and hypokinetic delirium, severe frailty, and high comorbidity burden, particularly liver disease and cancer, are strong independent predictors of in-hospital mortality, with distinct sex-specific patterns. Early multidimensional geriatric assessment may improve risk stratification and guide targeted interventions. Full article

Background/Objective: Neuronal intranuclear inclusion disease (NIID) is characterized by widespread deposition of eosinophilic intranuclear inclusions in multiple systems throughout the body. The aim of this study was to investigate the clinical and phenotypic features of NIID, with a focus on the potential association between the morphological features of fibrils formed by polyG (polyglycine) proteins and cognitive dysfunction in patients with NIID. Methods: This study involved a retrospective collection of clinical data from 15 patients with NIID harboring GGC repeat expansions in the NOTCH2NLC (Notch 2 N-Terminal Like C) gene (including symptoms, signs, biochemical markers, cranial MRI, MMSE, and MoCA cognitive scores). All patients underwent skin biopsy, with one additional autopsy of brain tissue. Some skin samples were stained with hematoxylin and eosin (H&E) and immunohistochemistry (IHC) staining with anti-p62 antibody. The remaining skin samples and brain tissue samples obtained from autopsies were analyzed using anti-p62 antibody immunofluorescence (IF) staining and transmission electron microscopy (TEM). The number of GGC repeats was quantified using repeat primer PCR (RP-PCR). Based on ultrastructural characteristics (morphology and diameter), inclusion fibers were classified into two subtypes, and differences in the severity of cognitive impairment between subtypes were compared. Results: The majority of patients in this cohort with NIID were female (73.3%), with an average age of onset of 61.06 ± 7.67 years. The core clinical manifestations were cognitive decline (93.3%) and autonomic dysfunction (93.3%). Cranial MRI revealed characteristic DWI “ribbon sign” in 93.3% of patients, accompanied by lateral ventricle enlargement (93.3%), cerebellar atrophy (86.6%), and high T2-FLAIR signal in the corpus callosum (93.3%). All patients were found to have pathogenic GGC amplification in the NOTCH2NLC gene (median 115, range 88–210). Skin/brain tissue pathology confirmed p62-positive nuclear inclusions, and transmission electron microscopy revealed two fiber subtypes for the first time: type A (Long, thin filamentous, 202.38 ± 42.35 nm) and type B (short rod-shaped, 73.08 ± 11.56 nm). Group analysis indicated that the diameter of fibers was significantly larger in the cognitive impairment group (p < 0.05), and the type B fiber group had lower cognitive levels (p < 0.05) and larger diameters (p < 0.05), suggesting a strong association between type B fibers and severe cognitive impairment and poor prognosis. Conclusions: The presence of two different forms of fibrils, type A and type B, in the inclusion bodies of NIID patients, and the poorer cognitive level of NIID patients in the type B group than that of type A suggest that type B fibrils can be used as a novel pathological marker of severe cognitive impairment and poor prognosis in NIID. Full article

Background: Fragility fractures of the pelvis (FFP) are an increasing challenge in aging societies. Among these, FFP type 4B (“H-shaped” sacral fractures) represent the most unstable subtype, characterized by bilateral sacral ala fractures with transverse dissociation. Optimal fixation strategies remain debated, as spinopelvic fixation provides maximal stability but is invasive, while iliosacral screws often fail in osteoporotic bone. Trans-sacral bar (TSB) fixation has been proposed as a less invasive alternative, though evidence for its use in FFP 4B remains limited. Methods: We conducted a retrospective single-center study of 31 elderly patients (mean age 77.9 years; 87.1% female) with CT-confirmed FFP type 4B fractures treated between 2015 and 2022 using navigation-guided TSB constructs. Surgical configurations included hybrid fixation (TSB + bilateral iliosacral screws, n = 25) and dual-bar fixation (n = 6). Outcomes included perioperative complications, implant survival, radiographic healing, pain, and mobility at 3 and 12 months. Opportunistic CT-derived Hounsfield units (HU) were used to assess bone quality. Results: All patients had severe osteoporosis (mean HU 75.8 ± 30.1). Mean operative time was 71 min, and mean hospitalization was 9.1 days. No intraoperative or postoperative complications occurred, and no implant loosening, migration, or revision surgeries were required. At 3 months, mean pain score was 1.9, further decreasing to 1.1 at 12 months; 60.9% of patients reported complete pain resolution. Mobility improved in most cases, with 80.6% discharged with a walker or crutches. Radiographic follow-up confirmed stable healing in all patients. Conclusions: Navigation-guided TSB-based fixation provided stable osteosynthesis with excellent implant survival, significant pain relief, and early mobilization in elderly patients with FFP type 4B fractures. Hybrid and dual-bar constructs both achieved reliable outcomes. TSB fixation thus represents a safe and effective alternative to spinopelvic fixation in this fragile population. Larger multicenter prospective studies are warranted to confirm these findings and refine fixation strategies. Full article

Avian influenza (AI) is a highly infectious disease affecting birds. Some strains of AI virus (AIV) have zoonotic potential, posing a threat to humans. The H4N6 subtype is a low-pathogenic virus and causes mild infection in poultry. However, it has raised increasing concern due to its capability to infect pigs and its high potential for reassortment when co-infected with other strains. This study investigated the antiviral properties of turkey-derived Ligilactobacillus salivarius UMNPBX2 (L. salivarius UMNPBX2) cell-free extract (CFE) using both cell culture and in ovo methods. We assessed the growth kinetics of the H4N6 virus and the cytotoxicity of L. salivarius UMNPBX2 CFE in Madin–Darby Canine Kidney (MDCK) cells. The results revealed that the CFE from the 10⁹ CFU/mL L. salivarius UMNPBX2 overnight culture had strong antiviral activities (p < 0.05). The CFE obtained from 10⁷ to 10⁵ CFU/mL of overnight culture also significantly reduced viral replication (p < 0.05), demonstrating dose-dependent inhibition of viral replication. Additionally, CFEs did not increase pro-inflammatory cytokine gene expression of IL-1β and IL-6 but rather tended to decrease it (IL-6). The embryo survivability experiments revealed a significant dose-dependent increase in survival rate (p < 0.05). The findings of this study highlight the antiviral properties of L. salivarius UMNPBX2 CFE, which contain potential postbiotics against the H4N6 virus, warranting in vivo studies. Full article

Background: Prior work established that about a third of ASD-derived LCLs show excessive mitochondrial respiration and stress vulnerability—features divergent from both controls and classical mitochondrial disease. This study explores how mRNA and microRNA (miRNA) expression profiles distinguish subtypes of autism spectrum disorder (ASD) defined by mitochondrial function. Methods: Lymphoblastoid cell lines (LCLs) from boys with ASD were classified into two groups: those with abnormal (AD-A) and normal (AD-N) mitochondrial function. RNA-seq compared mRNA and miRNA expression differences. Results: 24 mRNA differentially expressed genes (DEGs) (14 downregulated, 10 upregulated in AD-N vs. AD-A) were identified, implicating processes such as mRNA processing, immune response, cancer biology, and crucially, mitochondrial and nuclear activities. Notably, genes such as DEPTOR (an mTOR modulator) were upregulated in AD-A, highlighting dysregulation in the mTOR pathway—a central regulator of cellular metabolism, protein synthesis, autophagy, and mitochondrial function. miRNA analysis revealed 18 differentially expressed miRNAs (DEMs) upregulated and one downregulated in AD-N compared to AD-A. Several miRNAs (including hsa-miR-1273h-3p, hsa-miR-197-3p, and hsa-miR-199a-5p) targeted both the differentially expressed genes and pathways previously linked to ASD, such as mTOR, Calmodulin Kinase II, and mitochondrial regulation. Enrichment analyses indicated involvement regulation of cell growth and division, gene expression, immune regulation and cellular stress as well as mTOR signaling. Conclusions: These molecular signatures support the idea that mitochondrial dysfunction in ASD is tied to specific disruptions in the mTOR and PI3K/AKT signaling axes, influencing cell growth, autophagy, oxidative stress handling, and neuronal metabolism. The findings highlight a miRNA-mRNA regulatory network that may underpin mitochondrial dysfunction and ASD heterogeneity, suggesting avenues for subtype-specific biomarkers and targeted therapies that address energy metabolism and cellular stress in ASD. Full article

This comprehensive review examines the multifaceted interactions between influenza viruses and the ocular system, integrating viral pathogenesis, clinical manifestations, and vaccine-related considerations. Influenza A subtypes (H7, H1N1, H5N1) and influenza B viruses induce a spectrum of ocular complications, from mild conjunctivitis—predominantly associated with H7 avian strains—to sight-threatening disorders like uveal effusion syndrome, acute macular neuroretinopathy, and optic neuritis. Experimental evidence confirms viral replication in human corneal and retinal cells, with H7N7 demonstrating unique tropism for ocular tissues via NF-κB-mediated inflammatory pathways. Clinical cases highlight direct viral invasion and immune-mediated mechanisms, such as Vogt–Koyanagi–Harada disease exacerbation and retinal vasculitis. Rarely, influenza vaccination has been linked to oculorespiratory syndrome, uveitis, and demyelinating events, though large-scale epidemiological studies (e.g., WHO safety reports) confirm vaccines’ favorable risk–benefit profile, distinguishing true adverse events from temporal associations. This synthesis emphasizes the need for ophthalmologists to prioritize surveillance during influenza seasons, integrating diagnostic tools like conjunctival RT-PCR and optical coherence tomography. Future research should focus on defining viral receptor-binding mechanisms in ocular tissues and developing targeted therapies for severe retinopathies, while reinforcing vaccination as a cornerstone of public health despite rare ocular risks. Full article

Background: Breast cancer is a complex, multifactorial malignancy characterized by the uncontrolled proliferation of epithelial cells, with certain subtypes exhibiting resistance to conventional therapies. Plant-derived essential oils have been proposed as potential anticancer agents due to their bioactive compounds. Recent studies have demonstrated that Decatropis bicolor essential oil exhibits activity against breast cancer, attributed to diverse secondary metabolites such as δ-cadinene. Aberrant expression of adhesion and invasion proteins, including MMPs, CD44, N-cadherin, and ZEB-2, are key signs of breast cancer progression and metastasis; they represent relevant molecular targets. Objectives: To investigate the interaction of δ-cadinene with these proteins using in silico approaches and in vitro evaluations. Methods: In silico analyses were conducted to assess the interaction and stability of δ-cadinene with target proteins. In vitro assays, including cytotoxicity, morphological analysis, and cell invasion assays, were performed using MDA-MB-231 and MCF10-A cell lines. Results: Interaction analysis suggest that δ-cadinene interacts with key catalytic residues in MMP-2, sharing features with Quercetin. Blind docking revealed a second high-affinity site in the Fibronectin type II domain. Molecular dynamics simulations confirmed the stability of these complexes. In vitro studies showed that δ-cadinene significantly reduced MDA-MB-231 cell viability in a concentration-dependent manner, without affecting MCF10-A cells, and significantly inhibited invasion and MMP-2 activity after 24 h. Conclusions: δ-cadinene exhibits selective cytotoxic and anti-invasive activity in MDA-MB-231 cells, likely through dual inhibition of the catalytic and adhesion domains of MMP-2. These findings support δ-cadinene as a potential candidate for future therapeutic development in metastatic breast cancer. Full article

In recent years, the four main swine influenza A virus (IAV-S) subtypes circulating in swine in the EU have been H1avN1, H1huN2, H1N1pdm09, and H3N2. The latter emerged in 1984 from a reassortment event between a human seasonal H3N2 and H1avN1, and is currently detected at low prevalence in swine in Italy. Here, we describe nine H3N2 IAV-S isolates belonging to three novel genotypes, first detected in Italy in 2021, likely resulting from reassortment events between swine and human IAVs. The first genotype was characterized by a hemagglutinin (H3 HA) of human seasonal origin, a neuraminidase (N2 NA) derived from H1huN2 strains circulating in Italian swine, and an avian-like internal gene cassette (IGC). The second genotype differed in its IGC constellation: PB2, PB1, PA and NP segments were of pandemic origin (pdm09), while NS and M segments derived from the Eurasian avian-like lineage. The third genotype combined a human-derived H3, a Gent/84-derived N2, and a pdm09-origin IGC, except for an avian-like NS. This study aimed to characterize the genetic features of these novel H3huN2 and assess their epidemiological relevance, with implications for surveillance and control, improving preparedness and mitigating the risks posed by zoonotic influenza viruses. Full article

Influenza A virus pandemics pose a persistent global health threat, and emerging antiviral resistance underscores the critical importance of developing novel broad-spectrum therapeutic agents. Building on licorice’s (Glycyrrhiza spp.) historical use in traditional Chinese medicine for respiratory infections—as documented in the Chinese Guidelines for Diagnosis and Treatment of Influenza—and its demonstrated anti-SARS-CoV-2 activity, we identified licoflavone B as a potent anti-influenza agent, bridging ethnopharmacological knowledge with mechanistic validation. In this study, we identified licoflavone B, a natural flavonoid derived from licorice (Glycyrrhiza spp.), as a potent inhibitor of diverse influenza viruses, including multiple influenza A subtypes and type B virus. Mechanistic studies revealed that licoflavone B selectively targets the viral RNA-dependent RNA polymerase (RdRp), effectively suppressing viral replication. The compound exhibits a favorable selectivity index (SI = 14.9–29.9), indicating a promising therapeutic window. Molecular docking simulations identified potential binding interactions between licoflavone B and regions of the RdRp complex, which were further validated by dose-dependent inhibition of viral nucleoprotein (NP) and polymerase subunit PB2 expression in Western blot and immunofluorescence assays. In addition, licoflavone B maintained broad-spectrum antiviral activity against multiple influenza strains, including H1N1 (A/Puerto Rico/8/34), H3N2 (A/Darwin/9/2021), and a clinical influenza B isolate (B/Beijing/ZYY-B18/2018). These findings position licoflavone B as a promising lead compound for developing next-generation, broad-spectrum antiviral therapies against influenza and potentially other viruses. Full article

Background/Objectives: The development of a vaccine against highly pathogenic avian influenza viruses subtype A/H5 is an urgent task due to concerns about its pandemic potential. Methods: In this study, we have developed an experimental mRNA vaccine, mRNA-H5, encoding a modified hemagglutinin trimer of influenza virus A/turkey/Stavropol/320-01/2020 (H5N8). BALB/c mice were immunized with the mRNA-H5 vaccine using lipid nanoparticles (LNPs) and needle-free jet injection (JI). Subsequently, the immune response to vaccine was assessed using ELISA, microneutralization assay, and ICS methods, and a challenge study was conducted. Results: mRNA-H5 was shown to effectively stimulate specific humoral and T-cell immune responses. Moreover, mRNA-H5 delivered by LNPs and JI provided 100% protection of immunized mice against lethal challenge with homologous and heterologous strains of avian influenza virus (A/Astrakhan/3212/2020 (H5N8) and A/chicken/Magadan/14-7V/2022 (H5N1), respectively). Conclusions: The present results indicate that JI can be considered as an alternative to LNPs for mRNA delivery, and according to the literature, JI is safer than delivery using LNP. mRNA-H5 has potential as a vaccine against infection with highly pathogenic avian influenza A/H5 viruses with pandemic potential. Full article

PR/SET domain 2 (PRDM2)/RIZ is a member of the histone/protein methyltransferases (PRDMs) superfamily. Discovered to have the ability to bind retinoblastoma in the mid-1990s, PRDM2 was assumed to play a role in neuronal development. Like other family members characterized by a conserved N-terminal PR structural domain and a classical C2H2 zinc-finger array at the C-terminus, PRDM2 encodes two major protein types, the RIZ1 and RIZ2 isoforms. The two subtypes differ in the presence or absence of the PR domain: the RIZ1 subtype has the PR domain, whereas the RIZ2 subtype lacks it. The PR domain exhibits varying conservation levels across species and shares structural and functional similarities with the catalytic SET domain, defining histone methyltransferases. Functioning as an SET domain, the PR domain possesses protein-binding interfaces and acts as a lysine methyltransferase. The variable number of classic C2H2 zinc fingers at the C-terminus may mediate protein–protein, protein–RNA, or protein–DNA interactions. An imbalance in the RIZ1/RIZ2 mechanism may be an essential cause of malignant tumors, where PR-positive isoforms are usually lost or downregulated. Conversely, PR-negative isoforms are always present at higher levels in cancer cells. RIZ1 isoforms are also important targets for estradiol interaction with hormone receptors. PRDM2 can regulate gene transcription and expression combined with transcription factors and plays a role in the development of several systemic diseases through mRNA expression deletion, code-shift mutation, chromosomal deletion, and missense mutation occurrence. Thus, PRDM2 is a key indicator for disease diagnosis, but it lacks systematic summaries to serve as a reference for study. Therefore, this paper describes the structure and biological function of PRDM2 from the perspective of its role in various systemic diseases. It also organizes and categorizes its latest research progress to provide a systematic theoretical basis for a more in-depth investigation of the molecular mechanism of PRDM2’s involvement in disease progression and clinical practice. Full article