Search Results (207)

Background/Objectives: Orbital reconstruction remains one of the most demanding procedures in maxillofacial surgery. It requires not only precise anatomical knowledge but also poses multiple intraoperative challenges. Limited surgical visibility—especially in transconjunctival or transcaruncular approaches—demands exceptional precision from the surgeon. At the same time, the complex anatomical structure of the orbit, its rich vascularization and innervation, and the risk of severe postoperative complications—such as diplopia, sensory deficits, impaired ocular mobility, or in the most serious cases, post-traumatic blindness due to nerve injury or orbital compartment syndrome—necessitate the highest level of surgical accuracy. In this context, patient-specific implants (PSIs), commonly fabricated from zirconium oxide or ultra-high-density polyethylene, have become invaluable. Within CAD-based reconstructive planning, especially for orbital implants, critical factors include the implant’s anatomical fit, passive stabilization on intact bony structures, and non-interference with orbital soft tissues. Above all, precise replication of the orbital dimensions is essential for optimal clinical outcomes. This study compares the morphological accuracy of orbital structures based on anthropometric measurements from 3D models generated from fan-beam computed tomography (FBCT) and cone-beam computed tomography (CBCT). Methods: A cohort group of 500 Caucasian patients aged 8 to 88 years was analyzed. 3D models of the orbits were generated from FBCT and CBCT scans. Anthropometric measurements were taken to evaluate the morphological accuracy of the orbital structures. The assessed parameters included orbital depth, orbital width, the distance from the infraorbital rim to the infraorbital foramen, the distance between the piriform aperture and the infraorbital foramen, and the distance from the zygomatico-orbital foramen to the infraorbital rim. Results: Statistically significant differences were observed between virtual models derived from FBCT and those based on CBCT in several key parameters. Discrepancies were particularly evident in measurements of orbital depth, orbital width, the distance from the infraorbital rim to the infraorbital foramen, the distance between the piriform aperture and the infraorbital foramen, and the distance from the zygomatico-orbital foramen to the infraorbital rim. Conclusions: The statistically significant discrepancies in selected orbital dimensions—particularly in regions of so-called thin bone—demonstrate that FBCT remains the gold standard in the planning and design of CAD/CAM patient-specific orbital implants. Despite its advantages, including greater accessibility and lower radiation dose, CBCT shows limited reliability in the context of orbital and infraorbital reconstruction planning. Full article

Background: Type 2 diabetes (T2D) is a global health epidemic with rising prevalence within Asian populations, particularly amongst individuals with high visceral adiposity and ectopic organ fat, the so-called Thin-Outside, Fat-Inside phenotype. Metabolomic and microbiome shifts may herald T2D onset, presenting potential biomarkers and mechanistic insight into metabolic dysregulation. However, multi-omics datasets across ethnicities remain limited. Methods: We performed cross-sectional multi-omics analyses on 171 adults (99 Asian Chinese, 72 European Caucasian) from the New Zealand-based TOFI_Asia cohort at 4-years follow-up. Paired plasma and faecal samples were analysed using untargeted metabolomic profiling (polar/lipid fractions) and shotgun metagenomic sequencing, respectively. Sparse multi-block partial least squares regression and discriminant analysis (DIABLO) unveiled signatures associated with ethnicity, glycaemic status, and sex. Results: Ethnicity-based DIABLO modelling achieved a balanced error rate of 0.22, correctly classifying 76.54% of test samples. Polar metabolites had the highest discriminatory power (AUC = 0.96), with trigonelline enriched in European Caucasians and carnitine in Asian Chinese. Lipid profiles highlighted ethnicity-specific signatures: Asian Chinese showed enrichment of polyunsaturated triglycerides (TG.16:0_18:2_22:6, TG.18:1_18:2_22:6) and ether-linked phospholipids, while European Caucasians exhibited higher levels of saturated species (TG.16:0_16:0_14:1, TG.15:0_15:0_17:1). The bacteria Bifidobacterium pseudocatenulatum, Erysipelatoclostridium ramosum, and Enterocloster bolteae characterised Asian Chinese participants, while Oscillibacter sp. and Clostridium innocuum characterised European Caucasians. Cross-omic correlations highlighted negative correlations of Phocaeicola vulgatus with amino acids (r = −0.84 to −0.76), while E. ramosum and C. innocuum positively correlated with long-chain triglycerides (r = 0.55–0.62). Conclusions: Ethnicity drove robust multi-omic differentiation, revealing distinctive metabolic and microbial profiles potentially underlying the differential T2D risk between Asian Chinese and European Caucasians. Full article

Basal cell carcinoma (BCC), the most common skin cancer, is primarily driven by Hedgehog (Hh) and TP53 pathway alterations. Although additional pathways were implicated, the mutational landscape in Asian populations, particularly Koreans, remains underexplored. We performed whole-exome sequencing of BCC tumor tissues from Korean patients and analyzed mutations in 11 established BCC driver genes (PTCH1, SMO, GLI1, TP53, CSMD1/2, NOTCH1/2, ITIH2, DPP10, and STEAP4). Mutational profiles were compared with Caucasian cohort profiles to identify ethnicity-specific variants. Ultraviolet (UV)-exposed and non-UV-exposed tumor sites were compared; genes unique to non-UV-exposed tumors were further analyzed with protein–protein interaction analysis. BCCs in Koreans exhibited distinct features, including fewer truncating and more intronic variants compared to Caucasians. Korean-specific mutations in SMO, PTCH1, TP53, and NOTCH2 overlapped with oncogenic gain-of-function/loss-of-function (GOF/LOF) variants annotated in OncoKB, with some occurring at hotspot sites. BCCs in non-exposed areas showed recurrent mutations in CSMD1, PTCH1, and NOTCH1, suggesting a UV-independent mechanism. Novel mutations in TAS1R2 and ADCY10 were exclusive to non-exposed BCCs, with protein–protein interaction analysis linking them to TP53 and NOTCH2. We found unique ethnic-specific and UV-independent mutational profiles of BCCs in Koreans. TAS1R2 and ADCY10 may contribute to tumorigenesis of BCC in non-exposed areas, supporting the need for population-specific precision oncology. Full article

Objectives: The primary objective of this study was to determine whether motor disorders are significantly more prevalent in children with Autism Spectrum Disorder (ASD) without co-occurring genetic or neurological conditions compared to neurotypical children. Another aim was to explore the applicability of the MABC-2 test for assessing motor skills in a Polish cohort of children with ASD. Additionally, this study sought to develop a basic framework for motor skill assessment in children with autism. Methods: This study included 166 Caucasian children, both sexes, aged 5–12 years, without intellectual disability (IQ ≥ 70), without concomitant genetic or neurological disorders, particularly epilepsy or cerebral palsy. The study group consisted of children with ASD (n = 71), and the control group consisted of neurotypical children (n = 95). The participants were assessed with the Movement Assessment Battery for Children–second edition (MABC-2), MABC-2 checklist and the Developmental Coordination Disorder Questionnaire (DCDQ), used as a reference point. Results: The children with ASD obtained significantly lower MABC-2 test results in all subtests in comparison with the control group. The children with suspected or diagnosed coordination disorders were characterized by a significantly greater number of co-occurring non-motor factors than the other participants of this study. MABC-2 test showed greater consistency with DCDQ than with the MABC-2 questionnaire. Conclusions: Children with ASD present a lower level of manual dexterity and balance and greater difficulties in performing tasks, including throwing and catching, in comparison with neurotypical children. The MABC-2 test with the MABC-2 checklist and DCDQ questionnaire constitute a complementary diagnostic tool. Full article

Background/Objective: The body roundness index (BRI) has emerged as a novel anthropometric parameter with potential utility in the assessment of obesity and its associated metabolic complications. This study aimed to identify the optimal BRI cut-off point for the diagnostic process of metabolic syndrome (MetS) in a cohort of postmenopausal women with obesity and to compare its predictive capacity with that of the homeostasis model assessment of insulin resistance (HOMA-IR). Methods: A cross-sectional analysis was conducted in 468 Caucasian postmenopausal women with obesity. Clinical and biochemical assessments included anthropometric measurements, blood pressure, fasting plasma glucose, insulin levels, the HOMA-IR, lipid profile, C-reactive protein, and adipokines. MetS was diagnosed according to the Adult Treatment Panel III (ATP III) criteria. Results: MetS was identified in 270 patients (57.5%). Stratification by the median BRI revealed that individuals in the higher-BRI group had a significantly increased odds of MetS (OR 2.65; 95% CI: 1.99–3.53; p = 0.03). A Receiver Operating Characteristic (ROC) curve analysis showed that the HOMA-IR had an area under the curve (AUC) of 0.72 (95% CI: 0.67–0.77; p = 0.01), with a cut-off value of 2.64 (sensitivity: 64.9%; specificity: 69.7%). In contrast, the BRI exhibited a higher AUC of 0.75 (95% CI: 0.71–0.80; p = 0.001), with an optimal cut-off of 8.15, demonstrating superior sensitivity (85.6%) and specificity (72.5%). Conclusions: The BRI is a promising and practical alternative anthropometric index for identifying MetS in Caucasian postmenopausal women with obesity. Its strong association with markers of adiposity and metabolic dysregulation underscores its potential value in clinical and epidemiological settings. Full article

Anterior cruciate ligament (ACL) injury (ACLI) is a prevalent sports injury. Genetic factors play a crucial role in determining the risk of ACLI. This systematic review aimed to identify the association between the COL5A1 rs13946 polymorphism and susceptibility to ACLI. Methods: Searches were performed in PubMed Central, Web of Science, EBSCOhost, Scopus, and CNKI. The Newcastle–Ottawa Scale (NOS) was used to assess potential bias, and data from the included studies were analyzed using RevMan 5.4. The odds ratio (OR) and 95% confidence intervals (95% CI) were calculated to determine the strength of the association between COL5A1 rs13946 and the risk of anterior cruciate ligament injury. A p value < 0.05 was considered statistically significant. Seven studies met the inclusion criteria for screening the association between COL5A1 rs13946 and ACL injury and were included in this meta-analysis. The meta-analysis revealed no significant heterogeneity across five genetic models. Statistically significant findings were observed in the recessive (OR = 1.29, 95% CI [1.06, 1.58], p = 0.01) and allele models (OR = 0.85, 95% CI [0.73, 1.00], p = 0.04). The TT genotype or T allele of rs13946 showed a distinct susceptibility to ACLI under the recessive model, particularly in Caucasians. This study supports the association between COL5A1 rs13946 and the risk of ACLI, particularly in Caucasians. More specifically, the C/- genotype of rs13946 provides protection against ACLI in Caucasians. Further research with larger sample sizes and well-balanced gender-specific cohorts is necessary to validate this association and strengthen our findings. Full article

Autoimmune thyroiditis (AIT), or Hashimoto’s thyroiditis, is one of the most prevalent autoimmune endocrine disorders. Its pathogenesis is complex and involves both environmental and genetic factors, yet it remains incompletely understood. Among the genetic contributors, thyroid-specific genes, including thyroid peroxidase (TPO) and thyroglobulin (Tg), have been implicated. The aim of this study was to investigate the potential association between the TPO gene single nucleotide polymorphism rs1126797, located in exon 11, and the risk of developing AIT in a Caucasian Polish population. To date, this SNP has not been studied in European cohorts, prompting us to explore its role following prior assessments in other ethnic groups. A total of 234 patients diagnosed with AIT and 132 healthy control subjects were enrolled. Genotyping of rs1126797 was performed using the TaqMan SNP Genotyping Assay. Allele and genotype frequencies were compared between groups, and associations with clinical parameters, including thyroid volume, were analyzed. No statistically significant differences in allele or genotype frequencies of rs1126797 were observed between AIT patients and healthy controls. However, a weak, significant trend was noted, suggesting a possible association between rs1126797 genotypes and thyroid volume in patients with AIT. Our findings do not support a significant role of the TPO rs1126797 polymorphism in conferring susceptibility to autoimmune thyroiditis in the studied Caucasian Polish population. However, the observed trend in thyroid volume among AIT patients with different rs1126797 genotypes warrants further investigation. Future studies involving larger and ethnically diverse cohorts are needed to validate these findings. Full article

The leading causes of pediatric arterial ischemic stroke (PAIS) are arteriopathies, which refer to pathologies of the arterial walls in the brain. Since traditional risk factors for cardiovascular diseases in children play a smaller role than in adults, it can be supposed that genetic factors may be of particular importance in this age group. Therefore, this study aimed to identify mutations affecting the formation of vascular wall pathologies, which can subsequently lead to ischemic stroke. The study used a database of 92 Caucasian children diagnosed with ischemic stroke. From this group, 25 children with arteriopathies were selected. The study had an exploratory and descriptive design, with the aim of characterizing rare genetic variants in a selected cohort, without attempting formal statistical association testing. The sequencing was performed using the Illumina NextSeq 550 platform. A panel of 161 genes known to be associated with stroke or arteriopathies was selected for further analysis. We identified 10 pathogenic or likely pathogenic mutations in 15 patients. Among these, three are likely monogenic causes of stroke (ELN, SCN5A, and VHL genes), two are considered risk factors (FV and ADAMTS13), two have conflicting interpretations (ACAD9 and ENG), and three are most likely benign (CBS, PMM2, and PKD1). The frequency of genetic variants underlying ischemic stroke or acting as risk factors for the disease in the studied group is significantly higher than the estimated frequency of monogenic forms of stroke in young adults and higher than in the general population. NGS testing is worth considering, especially in patients who exhibit certain symptoms that may suggest the presence of mutations. Full article

Background: Donor-derived cell-free DNA (dd-cfDNA) testing offers a non-invasive approach for monitoring allograft health in transplant recipients. However, its diagnostic performance and clinical utility remain insufficiently characterized across diverse populations. Objectives: This study assesses concordance between dd-cfDNA, donor-specific antibody (DSA) testing, and biopsy, while also comparing two commercial assays (AlloSure and Prospera) in kidney and pancreas transplant recipients. Methods: We retrospectively analyzed 271 transplant patient records from 2019 to 2024 at our institution, focusing on dd-cfDNA testing. Statistical analyses evaluated assay performance in relation to DSA and biopsy results. The impact of multi-organ transplantation (MOT) on dd-cfDNA levels was also assessed. Results: In our predominantly Caucasian cohort (61.5%) with a mean age of 53 years, increased levels of dd-cfDNA were significantly associated with DSA positivity, particularly within the Prospera group (p = 0.002), and were particularly higher in patients with HLA class II DSA. Both assays showed a limited correlation with biopsy-confirmed rejection. AlloSure had high specificity (80%) but low sensitivity (19%), whereas Prospera showed higher sensitivity (75%) with moderate specificity (60%). Dd-cfDNA levels were elevated in MOT recipients in a vendor-dependent manner. Conclusions: Our findings highlight the differing clinical strengths of dd-cfDNA assays: AlloSure demonstrates greater preference for ruling out rejection, whereas Prospera appears better suited for early detection. Dd-cfDNA interpretation in MOT recipients warrants cautious consideration. Overall, tailoring assay selection and optimizing diagnostic thresholds to clinical context may enhance transplant surveillance and patient management strategies. Full article

Background: Postpartum urinary retention (PPUR) typically resolves within the first three days following delivery. However, in rare instances, it may persist beyond 72 h and, in some cases, extend for several weeks. The current study aimed to evaluate long-term sequelae in women who endured PPUR following vaginal delivery. Methods: Between January 2013 and December 2019, 362 women who experienced PPUR following delivery at our institution were identified and subsequently invited to complete the UDI-6 questionnaire that serves to assess lower urinary tract symptoms. The questionnaires were filled out and returned by 242 women (66.8%). Results: Participants who had no urinary complaints (145/242; 60%) were assigned to Group 1. Of the 97 women allocated to Group 2 (97/242; 40%), 96 reported only mild urinary symptoms, while just 1 individual scored above the threshold of 33.3, suggesting elevated urinary distress. Risk factors known to be associated with PPUR were equally distributed among the two groups. A predominance of Caucasians was noted in Group 2 (p = 0.012). Voiding dysfunction (question 5 of UDI-6), taken separately, was proclaimed by 15 women from Group 2 (15/97 = 15.5%). When these were compared to the rest of the cohort (n = 227), an association with hypothyroidism was recognized (p = 0.036). Well-established risk factors for PPUR, such as nulliparity and epidural analgesia, were observed less frequently among women with persistent voiding dysfunction (p = 0.045 and p = 0.049, respectively), while postpartum uterine atony was more frequent (p = 0.047). Significant long-term effects after PPUR are uncommon. Conclusions: Hypothyroidism and postpartum uterine atony emerge as risk factors allied to long-term voiding dysfunction. Full article

Background/Objectives: To evaluate how immune responses compare among ethnic groups approximately 2 years after receiving a third dose of COVID-19 vaccine (BNT162b2, mRNA-1273, ChAdOx1or BBIBP-CorV), we tested T cell responses and Spike-specific RBD-antibody titer, and neutralized antibody titer levels utilizing Spectral Flow cytometry, ELISA, and SARS-CoV-2 pseudotyped-based neutralization assays, respectively. Methods: Forty-four individuals from January–December 2023 were identified within the cohort and were classified into different ethnic backgrounds; Black (N = 13), Asian (N = 14), Caucasian (N = 17). We recognize that the “Asian” group includes diverse subpopulations with distinct genetic and environmental backgrounds, which could not be further stratified due to sample-size limitations. Spike-specific AIM+, CD4+, and CD8+ T cell responses were assessed and evaluated against SARS-CoV-2 variants, including the ancestral Wuhan, Delta, and multiple Omicron subvariants (B1.1529, BA2.86, BA.4/5, and XBB.1). Alongside we tested the RBD-IgG and neutralizing antibody titers against the ancestral Wuhan. Spearman’s correlation analysis was utilized to determine corelative relationships among the AIM+ and CD4+ T cell responses, as well as the RBD-IgG and neutralizing antibody titers. Results: Our results show robust and comparable RBD-IgG and neutralizing antibody titers across all groups, with a significant positive correlation between these two measurements. Significant differences were observed in T-cell activation, with Asian participants exhibiting lower frequencies of Spike-specific CD4+ T cells against SARS-CoV-2 Omicron subvariants and higher frequencies of cytokine-producing CD4+ T cells (TNF-α, IFN-γ, and IL-2) as compared to the Caucasian group. Breakthrough infection status was not fully controlled and may influence these findings. Conclusion: Despite a small sample size and potential confounding by natural infections within our long-time-span sampling, our data suggest persistent cellular and humoral immunity 2 years after vaccination across ethnicities, with notable differences in T cell activation and cytokine profile. These preliminary observations highlight the need for larger, more detailed studies that consider intra-ethnic diversity and hybrid immunity to better understand ethnic differences in COVID-19 vaccine responses. Full article

Purpose: We investigated care disparities and associated factors along the segments of adult musculoskeletal tumor (MST) care prior to initiation of treatment. Patients and Methods: This cohort included newly diagnosed MST patients who were referred to Stanford Medical Center for establishing care from July 2020 to April 2024. We investigated the interval from the onset of symptoms to the first appointment with a primary care provider (PCP wait-time), and the interval from first PCP appointment to obtaining the first imaging study (imaging wait-time) and to obtaining biopsy results (biopsy wait-time). Sarcoma consult wait-time was defined as the interval between referral date and consult date. We performed a survey among sarcoma physicians and non-physician staff on the perception of wait-time. Results: Among 402 eligible patients, approximately 38.5% had PCP a wait-time longer than 5 weeks, with young adults and Hispanic patients having the highest rate of such long wait-times. Approximately 20.6% of patients had an imaging wait-time longer than 5 weeks, with young adults having the highest proportion of such long wait-times. In addition, Hispanic (p = 0.02), Black (p = 0.05) and Caucasian (p = 0.02) patients had significantly higher percentages of patients with an imaging wait-time of more than 5 weeks compared to Asians. Approximately 79.3% of patients had a biopsy wait-time longer than 5 weeks, with Black and Hispanic patients having the highest percent of such long wait-times. In addition, compared to public insurance, private insurance was associated with a higher proportion of patients with PCP wait-times, imaging wait-times, sarcoma consult wait-times and biopsy wait-times longer than 5 weeks. The survey responses overwhelmingly indicated that a wait-time of more than 5 weeks was not acceptable. Conclusions: Substantial disparities in MST care related to age group, ethnicity and insurance type existed in multiple segments of the care journey prior to the initiation of treatment. Our study provides insights for practice, research and policy considerations for narrowing sarcoma care disparities. Full article

Background & Objectives: Targeted-release budesonide (TRB) is the first approved agent aimed at targeting the early pathogenetic cascade in IgA nephropathy (IgAN). Materials and Methods: This prospective study included Caucasian IgAN patients diagnosed within the last 5 years, who had started a 10-month TRB treatment and were followed in the outpatient clinic. All participants had been on the maximal supportive care dose for at least the previous 6 months. Kidney function and proteinuria levels were recorded at the start of TRB treatment (T0) and at 3, 6, and 10 months (T3, T6, and T10, respectively), while urinary monocyte chemotactic protein-1 (MCP-1), matrix metalloproteinase-9 (MMP-9) and clusterin (CLU) levels were measured at T0 and T3. Results: In the cohort of all patients (mean age 53.24 ± 12.76 years, estimated glomerular filtration rate (eGFR 52.84 ± 25.93 mL/min/1.73 m², proteinuria 2.84 ± 1.26 g/24 h), significant correlations were observed at T0 between MMP-9 and MCP-1 (r = 0.74, p = 0.004), MMP-9 and uCLU (r = 0.77, p = 0.002), and MCP-1 and uCLU (r = 0.65, p = 0.01). At T3, a significant correlation between MMP-9 and urinary CLU (uCLU) persisted (r = 0.71, p = 0.03). Higher MCP-1 (r = −0.560, p = 0.046) and MMP-9 (r = −0.330, p = 0.012) levels at T0 were associated with reduced proteinuria. Conversely, increased clusterin at T3 (r = 0.599, p = 0.031) was associated with worsening proteinuria. Conclusions: The treatment response to TRB was heterogeneous, with recent diagnosis (RD) patients showing improved kidney function and proteinuria, while older diagnosis (OD) patients exhibited worsening biomarkers and declining kidney function. Therefore, early interventions are crucial in IgAN patients. Finally, the biomarkers studied can be used prognostically to monitor disease progression. Full article

The triglyceride–glucose (TyG) index was recently suggested as a surrogate marker of liver steatosis and insulin resistance. However, the TyG index cut-off value may be affected by age, sex, and race. Therefore, this study aimed to estimate the cut-off value for the TyG index discriminating insulin resistance based on the previously established cut-offs for HOMA-IR (Homeostatic Model Assessment for Insulin Resistance) and serum level of SHBG (sex hormone-binding globulin) in Caucasian women with polycystic ovary syndrome (PCOS). The medical records of 311 unselected Caucasian women diagnosed with PCOS were included. Finally, due to the exclusion of patients with diabetes and hypertension, a cohort of 264 (84.9%) women with PCOS were analyzed. The following data were retrieved from the medical history: age, body weight, waist circumference, height, serum levels of glucose, triglycerides, insulin, and SHBG. HOMA-IR was calculated with a standard formula. The TyG index was calculated according to the formula TyG = ln(triglycerides[mg/dL] × glucose [mg/dL]/2). The cut-off value for the TyG index was calculated using ROC analysis. The empirical optimal of the TyG index cut-off, corresponding to HOMA-IR ≥ 2.1, was >8.31 (AUC 0.77, accuracy 0.70, sensitivity 61.2%, specificity 75.3%, PPV—positive predictive value 59.4%, NPV—negative predictive value 76.7%). The corresponding TyG index cut-off values for a SHBG level < 41.5 nmol/L was >8.31 (AUC 0.67, accuracy 0.65, sensitivity 54.9%, specificity 73.9%, PPV 64.4%, NPV 65.6%). Our study suggests that the cut-off point for the TyG index in young Caucasian women with PCOS, which discriminates against insulin resistance, is 8.31 (based on both HOMA-IR and SHBG values). In addition, our data confirm the usefulness of the TyG index as an initial assessment of insulin resistance, which should be confirmed by assessing the HOMA-IR value or SHBG concentration. Full article

Background/Objectives: Background: Early-onset Alzheimer’s disease (EOAD) is primarily inherited in an autosomal dominant pattern, with mutations in the APP, PSEN1, and PSEN2 genes being central contributors. Diagnosing Alzheimer’s poses challenges due to the coexistence of various co-pathologies, and treatment options remain limited for most patients, apart from familial cases linked to specific genetic mutations. While significant research on Alzheimer’s genetics has been conducted in both Asian and Caucasian populations, the specific mutations and their clinical impacts in EOAD are still inadequately explored. This review aims to provide a detailed analysis of commonly reported genetic mutations and associated clinical features in EOAD patients from Asian and Western populations. Methods: Following the PRISMA-ScR guidelines, a systematic database search was conducted for studies published between 2016 and 2023. After screening 491 records, 36 studies from Asian cohorts and 40 from Western cohorts met the inclusion criteria. Results: The analysis revealed 127 unique mutations in the Asian population and 190 in the Western population. About 16.7% of Asian and 21.9% of Western studies covered both familial and sporadic AD, with consistent patterns across groups. Some mutations were shared between the populations and displayed similar clinical features, while others were population-specific. Conclusions: These findings underscore the considerable variability in EOAD mutations and phenotypes, emphasizing the importance of genetic testing in younger patients to enhance diagnostic accuracy and guide treatment strategies effectively. Full article