Adv Clin Exp Med [JOURNAL]
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200 papers
Diagnostic challenges in progressive familial intrahepatic cholestasis type 3 (PFIC3) misdiagnosed as Wilson's disease: A systematic review.
Gadour E, Miutescu B, Alqahtani MS … +4 more , Vuletici D, Elsayed G, Domilescu I, Facciorusso A
Adv Clin Exp Med · 2026 Jan · PMID 41566726 · Publisher ↗
Progressive familial intrahepatic cholestasis type 3 (PFIC3) is a rare liver disorder caused by biallelic mutations in the ABCB4 gene, leading to multidrug resistance protein 3 (MDR3) deficiency. PFIC3 often presents wit...
Progressive familial intrahepatic cholestasis type 3 (PFIC3) is a rare liver disorder caused by biallelic mutations in the ABCB4 gene, leading to multidrug resistance protein 3 (MDR3) deficiency. PFIC3 often presents with clinical and biochemical features that overlap with Wilson's disease (WD), including hepatic copper accumulation and elevated urinary copper excretion. These similarities contribute to frequent misdiagnosis, resulting in inappropriate chelation therapy and delayed appropriate management. This systematic review examines reported cases of PFIC3 initially misdiagnosed as WD to highlight diagnostic challenges and assess patient outcomes. A comprehensive search across PubMed, ScienceDirect and Google Scholar identified 11 eligible studies involving 16 patients. Most cases were first treated as WD, receiving chelation therapy without clinical improvement. Diagnosis was later revised to PFIC3 following negative ATP7B mutation testing and identification of ABCB4 variants, often via whole-genome sequencing. Upon switching to ursodeoxycholic acid (UDCA), most patients experienced clinical stabilization. The findings underscore the need for heightened awareness of PFIC3 as a differential diagnosis in atypical WD cases, especially when ceruloplasmin is normal and Kayser-Fleischer (KF) rings are absent. Early genetic testing is essential to avoid mismanagement. Further observational studies are warranted to estimate misdiagnosis frequency and guide diagnostic protocols.
INNODIA screening for early-stage type 1 diabetes: Insights from Polish first-degree relatives of T1D patients (2015-2023, EU115797).
Małachowska M, Kosiorowski K, Pokrywka P … +7 more , Skała-Zamorowska E, Rusak E, Kamińska H, Seget SJ, Pyziak-Skupień A, Deja G, Jarosz-Chobot P
Adv Clin Exp Med · 2026 Apr · PMID 41528838 · Publisher ↗
BACKGROUND: Early identification of individuals at increased risk for type 1 diabetes (T1D) is essential to prevent diabetic ketoacidosis (DKA) at onset and to facilitate the development of disease-modifying therapies. T...
BACKGROUND: Early identification of individuals at increased risk for type 1 diabetes (T1D) is essential to prevent diabetic ketoacidosis (DKA) at onset and to facilitate the development of disease-modifying therapies. The INNODIA EU115797 project (2015-2023) conducted a Europe-wide screening of individuals with recent-onset T1D (<6 weeks) and their first-degree relatives (aged 1-45 years). OBJECTIVES: To evaluate the risk of T1D development among first-degree relatives of individuals with T1D, based on data from the Polish INNODIA center at the Medical University of Silesia in Katowice, Poland. MATERIAL AND METHODS: Data on the incidence of autoantibodies were obtained from the INNODIA project platform. The analysis included first-degree relatives of individuals with T1D, aged 1-45 years, who met the inclusion criteria and were recruited at the Polish center. Samples were collected at the Medical University of Silesia in accordance with the INNODIA protocol. Participants were stratified based on the number of autoantibodies detected (1 or ≥2). The analysis considered age, sex, prevalence of specific autoantibodies (GAD65, IAA, IA-2A, ZnT8), and familial relationship. RESULTS: Among 817 screened individuals, 65 (7.96%) tested positive for autoantibodies (AA): 48 (5.88%) had 1AA and 17 (2.08%) had ≥2AA. The highest prevalence was observed in the 10-23-year age group (27.7%, 18/65). In this subgroup, 11.04% (18/163) were autoantibody-positive, whereas prevalence in other age groups (1-9, 24-36, 37-40, and 41-45 years) ranged from 5.98% to 8.97%. GAD65 (5.51%) and IAA (3.43%) were the most frequent autoantibodies. Individuals with 1AA were predominantly parents (32/48; 66.7%), while ≥2AA were more common among siblings (13/17; 72.2%). During follow-up, 2 participants progressed to stage 3 T1D. CONCLUSIONS: In the Polish cohort of the INNODIA study, autoantibodies were detected in 7.96% of first-degree relatives of individuals with T1D. Early screening is crucial for accurate risk stratification, guiding the development of therapeutic interventions and reducing the risk of severe complications at disease onset.
Laser therapy in peri-implantitis management: A scoping review of efficacy and current evidence.
Faot F, Júnior AB, Akira A … +9 more , Nammour S, Silva LJD, Morel LL, Vargas-Júnior FA, Grzech-Leśniak K, Marques ACPS, Bueno DF, Souza JGS, Shibli JA
Adv Clin Exp Med · 2026 Mar · PMID 41528837 · Publisher ↗
Peri-implantitis poses a persistent challenge in implant dentistry, driving interest in laser therapy as a potential treatment option. Despite encouraging outcomes, clinical applications of laser therapy differ significa...
Peri-implantitis poses a persistent challenge in implant dentistry, driving interest in laser therapy as a potential treatment option. Despite encouraging outcomes, clinical applications of laser therapy differ significantly in terms of wavelength, power setting and session frequency, hindering the development of standardized protocols. This scoping review aimed to map and synthesize current clinical evidence on the efficacy of laser therapy in peri-implantitis management, identify knowledge gaps and provide a foundation for future clinical recommendations. Following the Preferred Reporting Items for Systematic reviews and Meta-Analyses extension for Scoping Reviews (PRISMA-ScR) and Joanna Briggs Institute (JBI) guidelines, a comprehensive search was conducted across 5 databases (Scopus, PubMed, Cochrane Library, Embase, and Web of Science) between May and July 2024, covering studies published from 2000 to 2024, with no language restrictions. Two independent reviewers extracted data with high inter-rater agreement (κ = 0.97). A total of 98 clinical studies were included: 56 randomized controlled trials (RCTs), 38 cohort studies and 4 retrospective studies. Diode lasers were the most frequently studied (n = 50), followed by Er:YAG, aPDT, Nd:YAG, and Er,Cr:YSGG lasers. Exposure times ranged from 10 s to 700 s, most commonly around 60 s. Key clinical outcomes included probing depth (PD) reduction, bleeding on probing (BoP) and plaque index (PI), with additional outcomes related to bone loss, clinical attachment level (CAL), gingival recession (REC), cytokine levels, microbial analysis, suppuration, and gingival index (GI). Overall, laser therapy was associated with reduced inflammation, accelerated epithelialization, improved bone parameters, fewer complications, and better patient-reported outcomes. While laser therapy shows considerable promise in the treatment of peri-implantitis, further robust and standardized clinical research is essential to confirm its efficacy, optimize treatment parameters and inform evidence-based clinical guidelines.
Magnetic resonance-based quantification of post-renal biopsy perirenal hematomas volumes.
Białek P, Dobek A, Szychowska K … +5 more , Banasik W, Falenta K, Kobierecki M, Kurnatowska I, Stefańczyk L
Adv Clin Exp Med · 2026 Mar · PMID 41528836 · Publisher ↗
BACKGROUND: Percutaneous renal biopsy (PRB) is the gold standard for diagnosing nephropathies but, despite being generally safe, it carries the risk of hemorrhagic complications, particularly perirenal hematomas (PHs). U...
BACKGROUND: Percutaneous renal biopsy (PRB) is the gold standard for diagnosing nephropathies but, despite being generally safe, it carries the risk of hemorrhagic complications, particularly perirenal hematomas (PHs). Ultrasound, although commonly used, tends to underestimate hematoma volumes, whereas computed tomography (CT) accurately measures volumes but poses radiation concerns and often requires contrast media. Magnetic resonance imaging (MRI), free of these risks, offers high tissue resolution but remains underutilized for PH evaluation post-PRB. OBJECTIVES: To evaluate the utility of MRI-based segmentation techniques for accurately quantifying PH volumes after PRB, as a complementary imaging modality to ultrasound and CT. MATERIAL AND METHODS: We retrospectively analyzed MRI data from 85 patients who underwent PRB between July 2020 and May 2024. MRI-derived PH volumes were measured using manual segmentation. Clinical data were extracted from patient records, and the results were compared with data from a previous CT-based study. RESULTS: Perirenal hematoma was detected in 63 patients (74.1%) with a median volume of 26.2 mL (interquartile range (IQR): 7.2-59.3 mL), slightly smaller than CT-derived volumes (median: 38 mL, IQR: 18-85 mL). Using Spearman's rank correlation coefficient (rs), we found that serum creatinine (Cr; rs = 0.299, p = 0.039) and systolic blood pressure (SBP; rs = 0.333, p = 0.017) correlated positively with PH volume, while hemoglobin levels showed a negative correlation (rs = -0.322, p = 0.021). Hemodialysis was associated with larger PHs (odds ratio (OR) = 4.59, 95% confidence interval (95% CI): 1.20-17.58, p = 0.026); however, this finding is based on a model with modest predictive performance and requires further validation. CONCLUSIONS: Although its routine use may be limited, MRI could serve as a complementary tool for the detailed evaluation of PHs, offering a radiation-free and contrast media-free alternative to CT in clinical scenarios where immediate decision-making is not critical.
Hypophosphatasia in children: From low alkaline phosphatase activity to diagnosis, genetic testing, and treatment options. A narrative review.
Lipiński P, Rusecka J, Żuber ZM … +1 more , Śmigiel RS
Adv Clin Exp Med · 2026 Mar · PMID 41528835 · Publisher ↗
Hypophosphatasia (HPP) is an inherited metabolic disorder caused by loss-of-function mutations in the ALPL gene encoding a tissue-nonspecific alkaline phosphatase (TNSALP). It has been classified based on age at first di...
Hypophosphatasia (HPP) is an inherited metabolic disorder caused by loss-of-function mutations in the ALPL gene encoding a tissue-nonspecific alkaline phosphatase (TNSALP). It has been classified based on age at first disease manifestation, including lethal perinatal, benign perinatal, infantile, juvenile, adult, and odontohypophosphatasia. Diagnosis is based on clinical presentation, alkaline phosphatase (ALP) assay and genetic testing. The main diagnostic clue is the low (for age and sex) ALP activity. In any patient with suspected HPP or skeletal/bone deformities/dysplasia, it is recommended to evaluate phospho-calcium metabolism, which is useful in differential diagnosis. Genetic diagnosis of HPP requires identification of a disease-causing variant(s) (pathogenic). In Europe, the most frequent ALPL variants are c.571G>A, c.407G>A and c.1250A>G, while the most frequently detected variants in the world are c.1250A>G, c.571G>A and c.1133A>T. Asfotase alfa, a recombinant human TNSALP enzyme replacement therapy, is now available for the treatment of HPP. The article provides an up-to-date overview of clinical, biochemical and molecular features of HPP. Treatment strategy in HPP was also described.
Clinical implications of differences in the pharmacokinetic and pharmacodynamic profiles of ceftriaxone and cefotaxime: A narrative review.
Szymański M, Skiba MM, Piasecka M
Adv Clin Exp Med · 2026 Mar · PMID 41528834 · Publisher ↗
Third-generation cephalosporins have been widely used in clinical practice for many years. Among them, cefotaxime and ceftriaxone are the most commonly administered agents. Despite their nearly identical spectra of antib...
Third-generation cephalosporins have been widely used in clinical practice for many years. Among them, cefotaxime and ceftriaxone are the most commonly administered agents. Despite their nearly identical spectra of antibacterial activity, these antibiotics differ substantially in their pharmacokinetic and pharmacodynamic profiles. Such dissimilarities may influence the course and outcome of antimicrobial therapy. Furthermore, several additional factors can affect the antimicrobial efficacy of these agents. Cefotaxime and ceftriaxone exhibit markedly different degrees of albumin binding - approx. 25-40% and 95%, respectively. Hypoalbuminemia increases the proportion of the free, pharmacologically active fraction of the drug in the bloodstream; however, it may also lead to prolonged exposure to sub-MIC concentrations. This situation not only reduces the likelihood of therapeutic success but also increases the risk of selecting resistant bacterial strains. Although cefotaxime and ceftriaxone share a similar antibacterial spectrum, antibiotic selection should always be individualized according to the patient's clinical status and treatment context. A direct comparison of their clinical efficacy undoubtedly warrants further investigation, as suggested by the clear differences in their pharmacokinetic profiles.
Cognitive impairment in liver transplant candidates: The role of blood ammonia level and three-point evaluation of brain MRI.
Grusiecka-Stańczyk M, Janik MK, Olejnik P … +3 more , Golenia A, Małyszko J, Raszeja-Wyszomirska J
Adv Clin Exp Med · 2026 Feb · PMID 41528833 · Publisher ↗
BACKGROUND: Cognitive impairment (CI) is common in patients with alcohol-use disorder (AUD)-related liver cirrhosis, especially those awaiting liver transplantation (LT). There are conflicting results in terms of the rol...
BACKGROUND: Cognitive impairment (CI) is common in patients with alcohol-use disorder (AUD)-related liver cirrhosis, especially those awaiting liver transplantation (LT). There are conflicting results in terms of the role of hepatic encephalopathy (HE) in CI development and persistence. OBJECTIVES: This study investigated the impact of hyperammonemia on CI and evaluated the role of routine magnetic resonance imaging (MRI) in detecting CI among patients with AUD-related cirrhosis listed for LT at a single center. MATERIAL AND METHODS: Fifty-two adults (36 males, 69%) with AUD-related liver cirrhosis (mean age: 51 ±11 years; mean Model for End-Stage Liver Disease (MELD) score 16 ±6) were evaluated. Cognitive function was assessed using the Addenbrooke's Cognitive Examination III (ACE-III), with scores below 82 indicating probable dementia. Magnetic resonance imaging evaluations focused on cortical-subcortical atrophy, vascular-origin changes, and chronic HE. RESULTS: Magnetic resonance imaging revealed HE-related changes in 38 patients (73%), vascular-origin changes in 32 patients (62%), and cortical-subcortical atrophy in 15 patients (29%). Cognitive impairment was present in 46 patients (88%), with 30 (58%) suspected of having dementia. Patients with MRI evidence of HE scored lower in the ACE III language subdomain (p = 0.032) and tended toward a higher Child-Pugh classification (p = 0.083). No significant differences were found in ACE-III results or clinical data between patients with and without vascular-origin changes or cortical-subcortical atrophy. Additionally, no correlations were observed between radiological findings, ammonia levels, ACE-III scores, and liver-related mortality. CONCLUSIONS: These findings reveal a high prevalence of CI and significant MRI abnormalities in AUD patients awaiting LT. Further studies are needed to clarify the role of routine MRI in detecting cognitive deficits.
Simple, low-cost in vitro protocol for differentiating mesenchymal stem cells into cardiomyocyte-like cells.
Noviantari A, Rofaani E, Antarianto RD … +1 more , Djer MM
Adv Clin Exp Med · 2026 Feb · PMID 41524719 · Publisher ↗
Congenital heart disease (CHD) remains the foremost cause of mortality in children under 20 years of age. Given their ease of harvest, robust proliferative capacity and multilineage differentiation potential, stem cells...
Congenital heart disease (CHD) remains the foremost cause of mortality in children under 20 years of age. Given their ease of harvest, robust proliferative capacity and multilineage differentiation potential, stem cells (SCs) have emerged as a promising therapeutic alternative. In particular, mesenchymal stem cells (MSCs) derived from Wharton's jelly in the umbilical cord, i.e., an abundant byproduct of childbirth, especially in lowand middle-income settings, can be induced toward a cardiomyocyte lineage, making them an attractive cell source for cardiac regeneration. Although MSCs can be directed toward a cardiomyocyte lineage using growth factors or chemical cues, most in vitro-differentiated cells remain developmentally immature, with only a small fraction achieving the structural, functional and metabolic maturity required for therapeutic use. In resource-limited laboratories, the primary challenge is to develop a simple, cost-effective protocol that reliably differentiates MSCs into structurally, functionally and metabolically mature cardiomyocytes. This review presents a streamlined, cost-effective in vitro differentiation protocol for umbilical-cord MSCs into cardiomyocytes, designed for laboratories with minimal resources, involving 3 sequential stages. First, induce cardiac mesoderm commitment by treating umbilical cord-derived MSCs (UC-MSCs) with 5-azacytidine (5-Aza) or bone morphogenetic protein (BMP). Next, specify cardiac progenitor cells by adding a Wnt-pathway inhibitor (e.g., IWP-2). Finally, drive cardiomyocyte maturation by supplementing the culture with insulin-like growth factors (IGFs). In laboratories lacking complex bioreactors, seeding the cells onto a simple biocompatible scaffold, such as a collagen or fibrin hydrogel, can further boost differentiation efficiency and promote tissue-like organization.
Long-term safety and efficacy of loose combined cutting seton therapy for high anal fistula: Evidence from a prospective cohort study.
Congcong Z, Yicheng C, Xin L … +4 more , Yuying S, Ningyuan L, Lihua Z, Wenxiao H
Adv Clin Exp Med · 2026 Feb · PMID 41524718 · Publisher ↗
BACKGROUND: The healing rate after treatment in patients with high anal fistula (HAF) remains low. In individuals with HAF, the loose combined cutting seton (LCCS) technique has shown promising effectiveness, demonstrati...
BACKGROUND: The healing rate after treatment in patients with high anal fistula (HAF) remains low. In individuals with HAF, the loose combined cutting seton (LCCS) technique has shown promising effectiveness, demonstrating a high cure rate, low incidence of incontinence and reduced pain levels. OBJECTIVES: To assess the long-term efficacy and safety of LCCS technique in patients with HAF. MATERIAL AND METHODS: The LCCS procedure was conducted in patients with HAF between December 2020 and February 2022. All participants were followed up for 12 months. The primary outcome was fistula healing, while secondary outcomes included fistula recurrence, visual analogue scale (VAS) pain score, severity of fecal incontinence, and quality of life. RESULTS: A total of 132 patients with HAF were included in the final analysis, with a mean follow-up duration of 17.0 ±3.8 months. At the 12-month follow-up, 130 patients (98.5%) achieved fistula healing. Among them, 103 patients who received primary HAF treatment at our center fully recovered, while 27 of 29 patients previously treated unsuccessfully at other hospitals achieved healing within 12 months, corresponding to a 93.1% success rate. Ninety patients (68.2%) reported no fecal incontinence at follow-up (Wexner Continence Grading Scale (WCGS) score = 0), and 42 patients had a WCGS score of 1. The LCCS procedure was associated with a persistently low risk of postoperative perianal discomfort, with 127 patients (96.2%) scoring 0 and only 5 (3.8%) scoring 1 on the VAS. CONCLUSIONS: The LCCS technique is a safe and effective treatment for patients with HAF.
Screening of metabolic markers related to molecular typing of breast cancer based on 1H NMR metabonomics.
Xu M, Huang W, Huang X … +4 more , Shu H, Ke W, Zhang Y, Yang Y
Adv Clin Exp Med · 2026 Feb · PMID 41524717 · Publisher ↗
BACKGROUND: Breast cancer (BC) is a heterogeneous disease classified into 4 molecular subtypes, each with distinct molecular characteristics that influence treatment strategies, clinical outcomes and prognosis. These sub...
BACKGROUND: Breast cancer (BC) is a heterogeneous disease classified into 4 molecular subtypes, each with distinct molecular characteristics that influence treatment strategies, clinical outcomes and prognosis. These subtypes are associated with specific changes in cellular metabolism, which may play a crucial role in tumor development and progression. OBJECTIVES: To identify distinctive serum metabolic biomarkers for each molecular BC subtype and to evaluate their associations with estrogen receptor (ER) and human epidermal growth factor 2 (HER2) receptor status, thereby refining molecular classification and informing personalized treatment strategies. MATERIAL AND METHODS: The study utilized the proton nuclear magnetic resonance (1H NMR) metabolomics method to collect serum metabolic profiles from BC patients. Pattern recognition analysis was employed to analyze the metabolic data. Metabolic markers specific to each molecular subtype were selected, and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway enrichment analysis was employed to explore serum metabolic pathway heterogeneity. RESULTS: Distinct metabolic markers were identified for each molecular subtype, demonstrating strong discriminatory power. Additionally, we identified specific serum metabolites whose levels correlate with ER and HER2 expression profiles. The KEGG pathway analysis revealed significant heterogeneity in serum metabolic pathways across different subtypes. CONCLUSIONS: This study demonstrates pronounced metabolic differences across BC subtypes that mirror their distinct molecular profiles and may underlie variations in therapeutic response. These metabolomic insights hold promise for refining tumor classification, improving diagnostic accuracy and guiding more personalized treatment strategies.
Comparative prognostic evaluation of SOFA and PSS scores in pediatric septic shock: A retrospective study.
Du C, Li X
Adv Clin Exp Med · 2026 Feb · PMID 41524716 · Publisher ↗
BACKGROUND: Septic shock in pediatric intensive care units (PICUs) requires accurate prognostic tools. The Sequential Organ Failure Assessment (SOFA) and the Phoenix Sepsis Score (PSS) are both widely used, yet their com...
BACKGROUND: Septic shock in pediatric intensive care units (PICUs) requires accurate prognostic tools. The Sequential Organ Failure Assessment (SOFA) and the Phoenix Sepsis Score (PSS) are both widely used, yet their comparative effectiveness has not been fully established. OBJECTIVES: To evaluate the prognostic sensitivity of the SOFA and PSS scores in predicting mortality among pediatric patients with septic shock, and to compare their performance across different patient subgroups. MATERIAL AND METHODS: This retrospective study included 110 pediatric patients with septic shock admitted to the PICU of Shanxi Children's Hospital between 2020 and 2024. SOFA and PSS scores were recorded at admission, along with demographic, clinical, and outcome data. Patients with congenital organ abnormalities or severe inherited metabolic disorders were excluded. Predictive accuracy was assessed using correlation analyses and receiver operating characteristic (ROC) curve analysis. RESULTS: Both SOFA and PSS scores showed moderate correlations with mortality (SOFA: r = 0.57; PSS: r = 0.56), with SOFA demonstrating slightly higher overall predictive accuracy. PSS exhibited greater sensitivity in severe cases. Neurological and respiratory dysfunctions were the strongest predictors of mortality, whereas coagulation parameters had minimal prognostic value. Age-specific analysis revealed that SOFA was more accurate in patients aged 1-3 years and >7 years, while PSS outperformed SOFA in children aged 3-6 years. CONCLUSIONS: Both SOFA and PSS scores are effective tools for predicting mortality in pediatric septic shock. SOFA demonstrated superior overall performance, whereas PSS showed advantages in specific age ranges and disease categories. Using the two scoring systems in combination may support more informed clinical decision-making.
Racial differences in ceramides, cardiovascular health and cardiovascular risk: A preliminary analysis.
Lalika M, Vasile VC, Johnson MP … +5 more , Hayes SN, Jones C, Cooper LA, Patten CA, Brewer LC
Adv Clin Exp Med · 2026 May · PMID 41499066 · Publisher ↗
BACKGROUND: Plasma ceramides are recognized biomarkers of cardiovascular risk; however, racial and ethnic differences in their levels, as well as their association with cardiovascular health (CVH) among African-American...
BACKGROUND: Plasma ceramides are recognized biomarkers of cardiovascular risk; however, racial and ethnic differences in their levels, as well as their association with cardiovascular health (CVH) among African-American populations, remain insufficiently studied. OBJECTIVES: This study aimed to assess the association between ceramide scores and CVH, as well as atherosclerotic cardiovascular disease (ASCVD) risk, among African-American adults, and to compare ceramide scores between African-American and White adults. MATERIAL AND METHODS: We conducted a secondary analysis of 2 U.S. studies including African-American and White adults. Collected data encompassed demographics, behavioral factors (e.g., diet) and clinical measures (e.g., plasma ceramide levels). Atherosclerotic cardiovascular disease risk was assessed using the American College of Cardiology/American Heart Association (ACC/AHA) 10-year pooled cohort equations, while CVH was evaluated using the American Heart Association (AHA) Life's Essential 8 (LE8) scoring system. RESULTS: Fifty-eight African-American adults (mean age: 54.6 years; 67.2% women) and 1,103 White adults (mean age: 64.5 years; 52.1% women) were included. Compared with White participants, African-Americans had significantly higher prevalence of obesity, hypertension, diabetes, and hyperlipidemia, but similar ASCVD risk (12.8% vs 12.6%; p = 0.65). No significant associations were observed between ceramide scores and either LE8 or ASCVD risk in African-Americans. Ceramide levels differed by race/ethnicity, with African-Americans showing lower concentrations of 18:0 (0.08 vs 0.10 μmol/L) and 24:1 (0.91 vs 1.17 μmol/L) species compared with White adults (both p < 0.001). CONCLUSION: No association was observed between ceramide scores and CVH or ASCVD risk in African-American adults. Despite having a less favorable cardiometabolic profile, African-Americans exhibited lower ceramide levels than White adults. These findings suggest that ceramide scores may not accurately reflect cardiovascular risk in African-American populations.
Expression and correlation of SMAD2/3 and Th1/Th2/Th17 cytokines in embryonic tissues of idiopathic recurrent miscarriage.
Xue H, Guo M, Gao J … +6 more , Guo R, Cao G, Li X, Sun X, Lu H, Wu J
Adv Clin Exp Med · 2026 Jan · PMID 41499065 · Publisher ↗
BACKGROUND: Recurrent miscarriage (RM), the loss of 2 or more consecutive pregnancies before 28 weeks' gestation, has become increasingly common in recent years, imposing significant physical and psychological burdens on...
BACKGROUND: Recurrent miscarriage (RM), the loss of 2 or more consecutive pregnancies before 28 weeks' gestation, has become increasingly common in recent years, imposing significant physical and psychological burdens on affected women. Despite comprehensive evaluation, approx. 40-50% of RM cases remain unexplained and are therefore classified as idiopathic. OBJECTIVES: This study aimed to investigate the expression of SMAD2 and SMAD3 and characterize Th1, Th2 and Th17 cytokine profiles in placental villous tissues from women with idiopathic RM. MATERIAL AND METHODS: Forty-nine women with idiopathic RM in early pregnancy and 41 gestational age-matched women with normal pregnancies (NP) were recruited at Shanxi Maternal and Child Health Hospital (Taiyuan, China) . Following informed consent, placental villous tissues were obtained via ultrasound-guided vacuum aspiration, rinsed in saline and stored at -80°C. Total RNA was extracted from each sample, and SMAD2 and SMAD3 mRNA levels were quantified using real-time quantitative PCR (qPCR) using the 2-ΔΔCq method. Parallelly, tissue homogenates were assayed with enzyme-linked immunosorbent assay (ELISA) for Th1 cytokines (interleukin (IL)-2, intereron gamma (IFN-γ), tumor necrosis factor alpha (TNF-α)), Th2 cytokine (IL-10), and Th17 cytokines (IL-6, IL-17). Spearman's rank correlation was used to evaluate associations between SMAD2/3 expression and cytokine concentrations. All statistical analyses were performed in IBM SPSS v. 27.0, with two-tailed p < 0.05 denoting significance. RESULTS: The qPCR analysis demonstrated that SMAD2 mRNA levels in villous tissues were significantly higher in the RM group than in NP controls (p < 0.05). Consistent with this, ELISA revealed a marked increase in IL-6 concentration (p < 0.05) alongside significant reductions in IL-2, IL-10, TNF-α, and IFN-γ levels in RM samples vs NP (all p < 0.05). Spearman correlation analysis showed that SMAD2 expression was inversely correlated with IFN-γ (ρ < 0, p < 0.05), while SMAD3 expression was negatively associated with both IL-2 and IFN-γ levels (ρ < 0, p < 0.05). CONCLUSIONS: SMAD2/3 can affect the expression of Th1 and Th17 cytokines, which may in turn affect normal embryonic development.
Cornelia de Lange syndrome: What should a dermatologist know?
Shahada O, Kurdi A, Alrohaily L … +4 more , Alahmadi O, Tashkandi A, Aloufi T, Alloqmani W
Adv Clin Exp Med · 2026 Jan · PMID 41499064 · Publisher ↗
Cornelia de Lange syndrome (CdLS) is a complex genetic disorder affecting multiple body systems. It is characterized by distinctive facial features, skeletal anomalies, neurological and developmental impairments, physiol...
Cornelia de Lange syndrome (CdLS) is a complex genetic disorder affecting multiple body systems. It is characterized by distinctive facial features, skeletal anomalies, neurological and developmental impairments, physiological cutaneous manifestations such as hirsutism and synophrys, and numerous other signs and symptoms. Among affected individuals, the clinical presentation of CdLS varies widely, ranging from relatively mild to severe forms. Additionally, CdLS increases the frequency of certain dermatoses, including cutaneous bacterial infections and idiopathic thrombocytopenic purpura. Six genes have been identified in association with CdLS: NIPBL (Nipped-B-like protein), RAD21 (double-strand break repair protein rad21 homolog), SMC1A and SMC3 (structural maintenance of chromosomes 1A and 3), BRD4 (bromodomain-containing protein 4), and HDAC8 (histone deacetylase 8). Cornelia de Lange syndrome is estimated to occur in 1 out of every 10,000-30,000 live births, making it a rare condition and posing diagnostic challenges due to its low incidence. The present review aims to raise awareness of CdLS among dermatologists by providing a brief overview of the syndrome and summarizing the current literature on its dermatological manifestations.
Bioinformatics-driven discovery of shared biomarkers linking depression and cognitive impairment.
Chen W, Li B
Adv Clin Exp Med · 2026 Jan · PMID 41499063 · Publisher ↗
BACKGROUND: Major depressive disorder (MDD) is frequently comorbid with mild cognitive impairment (MCI), yet its molecular basis remains unclear. OBJECTIVES: This study aimed to identify shared differentially expressed g...
BACKGROUND: Major depressive disorder (MDD) is frequently comorbid with mild cognitive impairment (MCI), yet its molecular basis remains unclear. OBJECTIVES: This study aimed to identify shared differentially expressed genes (DEGs) and biological pathways that may underlie the comorbidity between MDD and MCI. Using integrative bioinformatics approaches applied to transcriptomic datasets, we sought to uncover molecular biomarkers that could inform early diagnosis and provide novel targets for mechanism-based therapeutic strategies. MATERIAL AND METHODS: Transcriptomic datasets from MDD (GSE58430) and MCI (GSE140831) patients were analyzed to identify DEGs. Functional enrichment analyses were performed using the Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) databases. Protein-protein interaction (PPI) networks were constructed to identify core genes. RESULTS: A total of 301 DEGs were shared between MDD and MCI. Gene Ontology and KEGG enrichment analyses revealed key biological processes involved in neuroinflammation, oxidative stress, synaptic dysfunction, and apoptotic signaling. The PPI network analysis identified nine hub genes with high connectivity: HSP90AB1, CDC42, NFKB1, CD8A, CALM3, PARP1, CD44, H2BC21, and MYH9. CONCLUSIONS: These findings reveal shared molecular biomarkers and pathways linking MDD and MCI, providing insights into their comorbidity. The identified core genes, particularly PARP1 and CDC42, may serve as novel targets for early diagnosis and mechanism-based therapeutic strategies in psychiatry and neurodegenerative disorders.
Pharyngeal airway changes after functional orthodontic treatment: A retrospective case-control study on a pediatric population.
Paluch Z, Warnecki R, Rogalska M … +4 more , Szlęzak M, Miśkiewicz-Orczyk K, Domka W, Misiołek M
Adv Clin Exp Med · 2026 Jan · PMID 41499062 · Publisher ↗
BACKGROUND: Initiating orthodontic treatment before the pubertal peak results in more pronounced long-term craniofacial changes in the maxilla and adjacent structures. Dental malocclusion correction through maxillary exp...
BACKGROUND: Initiating orthodontic treatment before the pubertal peak results in more pronounced long-term craniofacial changes in the maxilla and adjacent structures. Dental malocclusion correction through maxillary expansion has been shown to significantly increase the patency and decrease the airflow resistance in several airway compartments, ranging from the nares to the epiglottis plane. OBJECTIVES: We aimed to assess the impact of treatment with a removable functional orthodontic appliance on the dimensions of selected sections of the upper respiratory tract in pediatric patients, with the goal of identifying the nasopharyngeal and oropharyngeal regions most susceptible to lateral maxillary and mandibular expansion. MATERIAL AND METHODS: We retrospectively reviewed the medical records and lateral cephalometric radiographs (LCRs) of all consecutive pediatric patients with deciduous or mixed dentition treated with a functional appliance between 2014 and 2019 at a private orthodontic practice in Racibórz, Poland. To assess the impact of the study group and gender on the dependent variables, a Multivariate Analysis of Covariance (MANCOVA) was performed. The variable T1 (age at treatment initiation) was included as a covariate in the model to control for its potential effect on the outcomes. RESULTS: The treatment group comprised 55 patients, while 24 subjects served as the control group. In contrast to the nasopharyngeal variables, the average annual increase in the oropharyngeal linear measurements was significantly greater in the treatment group. For the gender factor, after applying the Benjamini-Hochberg correction, no statistically significant differences were observed in any of the assessed variables. In contrast, after correction, the covariate T1 was statistically significant for the following variables: CVM1 and CVM2 (skeletal age before treatment initiation and after treatment completion, respectively), and T2 (chronological age after treatment completion). CONCLUSIONS: Although treatment with a removable functional appliance does not significantly impact the nasopharyngeal airspace, it significantly increases oropharyngeal dimensions, which may help reduce the future risk associated with abnormal breathing patterns in treated patients.
Association of 41 circulating inflammatory factors, C-reactive protein, and procalcitonin with sepsis risk and 28-day mortality: A bidirectional Mendelian randomization and mediation analysis.
Peng J, Li L, Wang G … +5 more , Wei J, Lei B, Tan J, Liu L, Xie S
Adv Clin Exp Med · 2026 Jan · PMID 41489866 · Publisher ↗
BACKGROUND: The precise causal relationship between circulating inflammatory factors and sepsis has not yet been fully elucidated. OBJECTIVES: To identify biomarkers that enable earlier and more accurate diagnosis of sep...
BACKGROUND: The precise causal relationship between circulating inflammatory factors and sepsis has not yet been fully elucidated. OBJECTIVES: To identify biomarkers that enable earlier and more accurate diagnosis of sepsis. MATERIAL AND METHODS: The causal relationships between 41 circulating inflammatory factors, C-reactive protein (CRP), and procalcitonin (PCT) with sepsis and 28-day sepsis-related mortality were evaluated using two-sample bidirectional Mendelian randomization (MR) analyses. RESULTS: This study revealed negative causal associations between genetically predicted circulating inflammatory factors-interleukin-6 (IL-6) (odds ratio [OR] = 0.923; 95% confidence interval [CI], 0.854-0.998; p = 0.044), RANTES (OR = 0.926; 95% CI, 0.862-0.994; p = 0.033), and macrophage inflammatory protein-1β (MIP1β) (OR = 0.957; 95% CI, 0.919-0.996; p = 0.032) - and the risk of sepsis. Furthermore, positive causal relationships were observed between CRP and sepsis (OR = 1.140; 95% CI: 1.055-1.232; p = 0.001), as well as between CRP and 28-day sepsis-related mortality (OR = 1.241; 95% CI: 1.034-1.489; p = 0.020). Platelet-derived growth factor-BB (PDGF-BB) levels were also elevated in sepsis (OR = 1.136; 95% CI: 1.003-1.286; p = 0.044). Mediation analysis indicated that CRP mediated the effects of IL-6 and RANTES on sepsis, accounting for 25.87% (OR = 0.980; 95% CI: 0.961-0.998) and 2.04% (OR = 1.002; 95% CI: 0.991-1.012) of the total effect, respectively. The robustness of these associations was confirmed through leave-one-out sensitivity analysis and funnel plots. CONCLUSIONS: This study enhances our understanding of the mechanisms underlying sepsis and its associated mortality, and underscores the therapeutic potential of targeting inflammatory factors in its management.
Effects of a cystic artery-first Calot's triangle laparoscopic approach versus conventional laparoscopic cholecystectomy on therapeutic efficacy and complications in acute cholecystitis.
Wu Q, Fang Y, Wang L … +2 more , Wu H, Yang LZ
Adv Clin Exp Med · 2026 Jan · PMID 41489865 · Publisher ↗
BACKGROUND: Acute cholecystitis (AC) is a common biliary disorder, most often caused by gallstones obstructing the cystic duct and leading to gallbladder inflammation. OBJECTIVES: This study aimed to compare the therapeu...
BACKGROUND: Acute cholecystitis (AC) is a common biliary disorder, most often caused by gallstones obstructing the cystic duct and leading to gallbladder inflammation. OBJECTIVES: This study aimed to compare the therapeutic efficacy and complication rates of laparoscopic cholecystectomy (LC) performed using the Calot's triangle approach vs traditional LC techniques in the treatment of AC. MATERIAL AND METHODS: A retrospective analysis was conducted on 120 patients diagnosed with AC, with 60 patients undergoing LC using the Calot's triangle approach (study group) and 60 patients treated with traditional LC techniques (control group). Surgical parameters, including operation time, intraoperative hemorrhage, postoperative recovery times, and 30-day postoperative complications were recorded. Intraoperative adhesion formation was evaluated through direct visualization and graded based on severity. Postoperative pain was assessed using the visual analogue scale (VAS). RESULTS: There was no statistically significant difference in the baseline characteristics between the 2 groups, confirming their comparability. The study group (Calot's triangle approach) demonstrated significantly shorter average operation time, postoperative exhaust time, and diet recovery time compared to the control group. Additionally, patients in the study group had significantly lower intraoperative bleeding, lower VAS pain scores at 24 h and 72 h postoperatively, and a lower overall complication rate compared to the control group (p < 0.05). CONCLUSIONS: The LC Calot's triangle approach demonstrated shorter operation times and lower rates of certain complications compared with traditional LC techniques. However, the absence of statistically significant differences in some key outcomes highlights the need for further research to fully evaluate its clinical advantages and long-term benefits.
ERα inhibits the progression of hepatocellular carcinoma by regulating the circRNA/miRNA/SMADs network.
Liu C, Wu Z, Zhang B … +1 more , Chen Z
Adv Clin Exp Med · 2026 Jan · PMID 41489864 · Publisher ↗
BACKGROUND: Hepatocellular carcinoma (HCC) shows significant differences in incidence and mortality between genders. OBJECTIVES: This study investigates the mechanisms by which estrogen receptors (ER), specifically ERα,...
BACKGROUND: Hepatocellular carcinoma (HCC) shows significant differences in incidence and mortality between genders. OBJECTIVES: This study investigates the mechanisms by which estrogen receptors (ER), specifically ERα, influence HCC outcomes. MATERIAL AND METHODS: Bioinformatics approaches were used to study estrogen and its related pathways in relation to HCC. Estrogen receptor expression levels, along with downstream circular RNAs (circRNAs) and microRNAs (miRNAs), were measured in MHCC97H cells via quantitative reverse transcription polymerase chain reaction (RT-qPCR). Western blot was used to assess estrogen receptor 1 (ESR1) and SMAD family member 7 (SMAD7) protein expression. Cell proliferation, migration and cell cycle status of MHCC97H cells were measured using Cell Counting Kit-8 (CCK-8), Transwell assays and flow cytometry for cell cycle analysis. RESULTS: Bioinformatics analysis revealed that ERα acts as a transcription factor (TF) for 9 circRNAs with differential expression in HCC. We constructed the ERα/circRNA/miRNA/SMADs network based on the downstream targets of circRNAs, which were associated with the SMADs family. Survival studies revealed that ESR1 is correlated with favorable patient survival in liver cancer. In MHCC97H cells, qRT-PCR findings showed low expression of ESR1, hsa_circ_0004913 and SMAD7, but significant expression of hsa-miR-96-5p. Overexpression of ESR1 significantly increased the expression of hsa_circ_0004913 and SMAD7 while suppressing hsa-miR-96-5p. Western blot analysis confirmed these findings. Furthermore, ESR1 overexpression reduced MHCC97H cell proliferation and migration while inhibiting growth through G1 phase arrest. ESR1 acts as a TF that binds to the promoter of hsa_circ_0004913, as demonstrated using chromatin Immunoprecipitation followed by chromatin immunoprecipitation-quantitative real-time PCR (ChIP-qPCR). A dual-luciferase reporter experiment confirmed that hsa_circ_0004913 targets and regulates hsa-miR-96-5p. CONCLUSIONS: ERα can function as aTF, modulating the expression of various circRNAs with differential expression in HCC. Through this regulation, it modulates the circRNA/miRNA/SMADs network, thereby inhibiting the progression of HCC.
Noninvasive ventilation for COPD management: A systematic review & meta-analysis.
Yang J, Chen L, Zhao L … +4 more , Liu C, Gu X, Qi W, Wang L
Adv Clin Exp Med · 2026 Jan · PMID 41489863 · Publisher ↗
BACKGROUND: Noninvasive ventilation (NIV) is an important treatment modality in the management of chronic obstructive pulmonary disease (COPD) by reducing respiratory distress, improving gas exchange and reducing exacerb...
BACKGROUND: Noninvasive ventilation (NIV) is an important treatment modality in the management of chronic obstructive pulmonary disease (COPD) by reducing respiratory distress, improving gas exchange and reducing exacerbations without the need for intubation and invasive airways. OBJECTIVES: To synthesize data from randomized controlled trials (RCTs) and perform a meta-analysis to understand the beneficial effects of NIV across different COPD stages. MATERIAL AND METHODS: A systematic literature review was performed using MEDLINE (PubMed) and Cochrane Register of Controlled Trials (CENTRAL) al databases for RCTs that involved the administration of NIV vs usual treatment (oxygen supplementation, pharmacological agents, nasal cannulation) in patients with stable COPD, acute exacerbations of COPD (AECOPD), and post-exacerbation COPD (PECOPD). Mortality, exacerbation and intubation rates, and arterial blood gases (PaCO2 and PaO2 levels) were assessed in both groups. RevMan software was used to assess the risk of bias and calculate the pooled odds ratio (OR), mean differences (MDs) and subgroup analyses with a random-effects model. RESULTS: A total of 51 RCTs were included in the meta-analysis with information from 3,775 patients. Meta-analysis of the data showed that there was a significant decrease in mortality outcomes (p < 0.001), intubation frequency (p < 0.001) and PaCO2 levels (p < 0.001) but no significant improvement in exacerbation frequency (p = 0.12) and PaO2 levels (p = 0.69). Subgroup analyses demonstrated no significant difference between COPD stage on mortality outcomes (p = 0.32), PaCO2 level (p = 0.12) and PaO2 level (p = 0.64). There was a significant decrease in intubation rate in AECOPD patients receiving NIV and a statistically nonsignificant difference in exacerbation frequency in stable COPD patients using NIV. CONCLUSION: The findings of this meta-analysis indicate a substantial overall enhancement in the frequency of exacerbations and intubations, mortality outcomes, and arterial gas levels among patients in various stages of COPD. Consequently, it is imperative to identify patients with COPD that are most likely to benefit from the use of NIV.
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