Familial hypobetalipoproteinemia (FHBL), caused by apolipoprotein B (APOB) variants, disrupts APOB-containing lipoprotein synthesis, leading to reduced serum total cholesterol, low-density lipoprotein cholesterol, and APOB. Heterozygous carriers are often asymptomatic, while homozygotes exhibit severe manifestations like malabsorption, vitamin deficiencies, and hepatic steatosis. In recent years, FHBL has attracted increasing attention due to its association with liver disease and its role as a unique monogenic model of steatotic liver disease independent of cardiometabolic risk factors. Mechanistically, lipid overload, endoplasmic reticulum stress, oxidative damage, and impaired autophagy may drive hepatocellular injury and fibrosis. Challenges include insufficient diagnosis, sparse epidemiological data, and unclear disease progression. Enhanced genetic testing, mechanistic research, and longitudinal studies are critical to improving diagnosis, risk assessment, and therapies for FHBL-associated liver disease.

Cortisol, the body’s primary glucocorticoid, is central to maintaining homeostasis through its regulation of metabolism, immunity, cardiovascular tone, and neurobehavioral functions. However, chronic dysregulation of the hypothalamic–pituitary–adrenal axis, whether from persistent psychological stress, lifestyle imbalance, or circadian disruption, contributes to diverse metabolic, psychiatric, and inflammatory disorders. This comprehensive review aims to explore cortisol physiology, mechanisms of dysregulation, and emerging strategies for restoring hormonal balance through integrative management. Conventional approaches such as pharmacotherapy and surgical interventions remain essential for severe endocrine disorders like Cushing’s syndrome and Addison’s disease; however, they inadequately address chronic, stress-related dysfunction. Nutritional modulation, sleep optimization, moderate physical activity, and mind-body therapies, including yoga, meditation, and mindfulness-based stress reduction, demonstrate measurable reductions in cortisol and inflammatory cytokines. Adaptogenic botanicals such as Withania somnifera, Ocimum tenuiflorum, Rhodiola rosea, and Panax ginseng exhibit robust evidence for normalizing cortisol and enhancing resilience through hypothalamic–pituitary–adrenal axis modulation. Complementary modalities such as acupuncture, naturopathy, and homeopathy show potential in improving autonomic and neuroendocrine balance. By synthesizing biomedical, nutritional, psychological, and traditional perspectives, this review proposes an integrated model of cortisol management that harmonizes physiology and behavior. Such multidimensional frameworks offer promising, evidence-based pathways for mitigating stress-related diseases and promoting holistic well-being.

Metabolic dysfunction-associated fatty liver disease (MAFLD) poses a significant challenge in modern medicine due to its high prevalence. The pathogenesis of MAFLD involves a complex dysmetabolic process consistent with the “multiple-hit” hypothesis. This process includes excessive triglyceride (TC) accumulation within hepatocytes, lipotoxicity, insulin resistance (IR), chronic low-grade inflammation, and increased oxidative stress. The role of leptin in the liver has been extensively studied, demonstrating both direct effects on hepatic cells and indirect actions mediated through the central nervous system (CNS). In MAFLD, leptin modulates several physiological processes: it improves glucose metabolism by enhancing insulin sensitivity and lowering glucose levels; regulates lipid metabolism by promoting β-oxidation and TC export while inhibiting lipogenesis; and contributes to fibrogenesis by upregulating transforming growth factor-β (TGF-β) expression and activating hepatic stellate cells (HSCs) and the immune response. This review explores the structure of leptin, its primary physiological functions, its potential role in MAFLD pathogenesis, and its promise as a novel therapeutic target.

While metabolic dysfunction-associated steatotic liver disease (MASLD) is associated with obesity, the cause of its rapidly rising prevalence is not well understood. In this study, we aimed to examine the association between arsenic exposure and MASLD in humans.

Urinary inorganic arsenic data from the National Health and Nutrition Examination Survey, 2011–2020, were used. These were combined with death certificate data from the National Death Index of the National Center for Health Statistics to ascertain mortality rates. Weighted linear regression and chi-squared analysis were performed.

The analysis included 6,386 participants after exclusions. The mean urinary arsenic level was 5.92 µg/L in participants with MASLD versus 5.59 µg/L in those without. Alanine aminotransferase levels exhibited a statistically significant increasing trend across both continuous arsenic levels and arsenic quintiles. A statistically significant upward trend was observed for the income-to-poverty ratio and body mass index but not for education status. MASLD prevalence was highest among the white population, while an increasing trend was observed in the Hispanic population over the years (p < 0.001). The proportion of Mexican Americans increased to 12.6% in the MASLD group versus 8.09% in the non-MASLD cohort (p < 0.001). There was a statistically significant increase in the odds of MASLD across arsenic exposure levels, with individuals in the highest quintile having a 32% greater likelihood compared to those in the lowest quintile (p-trend = 0.002). The odds further increased to 55% in the highest quintile (odds ratio 1.55, 95% confidence interval: 1.19–2.03; p-trend < 0.001). MASLD was more prevalent in females than males (57.9% vs. 47.6%; p < 0.001), and the mean age increased from 46.9 years to 49.9 years (p = 0.016).

Our findings reveal a positive association between urinary arsenic exposure and MASLD, with increasing trends particularly observed among Hispanics and those with higher income-to-poverty ratios and body mass index.

Actively identifying the risk factors and predictive indicators associated with portal vein thrombosis (PVT) in liver cirrhosis (LC) can enable early diagnosis and treatment, which is of great significance for prolonging the survival of patients with LC. Hemodynamic disturbances, advanced LC, vascular endothelial injury, and mutations in thrombophilic genetic factors are established risk factors for PVT-LC. Venous dilatation and decreased blood flow velocity contribute to hemodynamic disturbances. The severity of LC can be assessed by the degree of portal hypertension, liver metabolic function biomarkers, and validated liver scoring systems. Iatrogenic interventions, endotoxemia, and metabolic syndrome may induce vascular endothelial injury and hypercoagulability, the latter of which can be quantified via coagulation-anticoagulation-fibrinolysis biomarkers. Mutations in thrombophilic genetic factors, such as Factor V Leiden, MTHFR C667T, and JAK2 V617F, disrupt coagulation-anticoagulation homeostasis and predispose patients to PVT-LC. This review specifically focuses on comprehensively delineating established risk factors and predictive indicators for PVT-LC, thereby providing a theoretical foundation for the construction of clinically applicable PVT predictive models to guide early interventions and improve the prognosis. Future research should further validate the associations between recently proposed risk factors and PVT-LC, while simultaneously establishing cutoff values for indicators with robust predictive value to construct a clinically applicable PVT prediction framework.

Temporal lobe epilepsy (TLE) is the most common focal epilepsy, with many patients developing drug-resistant epilepsy. Surgical interventions, including stereoelectroencephalography (SEEG)-guided temporal lobe resection (TLR) and SEEG-guided responsive neurostimulation (RNS), are key treatment options. This systematic review compares the efficacy and safety of these interventions in drug-resistant TLE.

A systematic review was conducted following the PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-Analyses) 2020 guidelines. A comprehensive search of multiple databases was performed (January 23–February 14, 2025). Eligible studies included adult patients with drug-resistant TLE undergoing SEEG-guided TLR or RNS (where SEEG was used pre-implant for localization). Primary outcomes assessed included seizure freedom, seizure reduction, adverse events, and quality of life (QoL) improvements. Quality assessments were performed using appropriate tools for randomized and observational studies.

Fifteen studies met the inclusion criteria, with sample sizes ranging from 10 to 440 participants. SEEG-guided TLR achieved an average seizure freedom rate of 58.5% (range: 32–85%) and a mean seizure reduction of 75% (range: 60–90%). SEEG-guided RNS resulted in an average seizure freedom rate of 12.85% and seizure reduction of 63.2%, with variability across studies. QoL improvements were reported in 80–82% of patients. Adverse events were infrequent but varied between interventions.

This review highlights the effectiveness of SEEG-guided TLR and RNS in managing drug-resistant TLE. While both interventions reduce seizure burden and improve QoL, seizure freedom rates are higher with resection. However, gaps remain in understanding long-term cognitive outcomes and demographic influences on treatment response. Future research should address these factors to refine patient selection and optimize epilepsy care.

The association between chronic inflammation and cancer has reshaped our understanding of tumorigenesis and cancer therapy. Inflammatory responses can both promote and suppress cancer, depending on the context and timing. Key molecular players, such as nuclear factor kappa-light-chain-enhancer of activated B cells, interleukin-6, signal transducer and activator of transcription 3, and a variety of immune cell types, including tumor-associated macrophages, myeloid-derived suppressor cells, and regulatory T cells, orchestrate an environment conducive to tumor survival, angiogenesis, metastasis, and immune evasion. In recent years, immunotherapy, particularly immune checkpoint inhibitors, has revolutionized cancer treatment. However, its success varies across tumor types and patients, underscoring the need to understand the tumor microenvironment and inflammatory context. This review examines the mechanistic underpinnings of inflammation-driven cancer, discusses translational research efforts targeting inflammatory pathways, and explores clinical applications, including the integration of immunotherapy with anti-inflammatory agents and biomarkers for personalized treatment. Future directions in the field include the application of artificial intelligence, microbiome research, single-cell technologies, and gene editing tools to further tailor therapies and overcome resistance mechanisms.

Colorectal cancer (CRC), like all other cancers, results from genetic and epigenetic alterations of the genome. The mechanisms leading to epigenetic alterations include DNA methylation, histone modifications, and small non-coding RNAs. As shown in many studies, some histone modifications such as acetylation, methylation, and phosphorylation are reported to be altered in CRC. Since these epigenetic alterations are reversible, they can be targeted as a strategy for CRC treatment. Numerous studies demonstrate the effects of molecules (both natural and synthetic) as inhibitors of enzymes responsible for histone acetylation, methylation, and phosphorylation in CRC cell lines. Some of these molecules have reached clinical trial stages. Vorinostat and belinostat, as histone deacetylase inhibitors; pinometostat and ribavirin, as histone methyltransferase inhibitors; and staurosporine and barasertib, which target histone phosphorylation, are among the promising epigenetic modifiers targeting histone alterations. Some of these modifiers can be used alone or in combination with other anticancer drugs or radiotherapy to increase efficacy. This review aims to identify molecules that target enzymes responsible for altering acetylation, methylation, and phosphorylation of histones in CRC.

Bone marrow metastasis (BMM) from non-hematolymphoid malignancies with resultant cytopenia(s) can mimic primary hematolymphoid disorders. This study aimed to investigate the clinical and pathological characteristics of BMM from non-hematopoietic tumors.

We conducted a retrospective cohort study of patients diagnosed with BMM by non-hematolymphoid malignancies at our institution over the past 10 years. Demographic and clinical characteristics, histopathological findings of bone marrow, types of metastatic tumors, and prognosis were analyzed.

A total of 54 cases were included. The four most common malignancies with BMM, regardless of gender, were prostatic adenocarcinoma (29.6%), breast carcinoma (25.9%), colorectal adenocarcinoma (5.5%), and lung carcinoma (5.5%). The main clinical and laboratory manifestations were anemia (90.7%), reticulocytosis (80.5%), thrombocytopenia (73.9%), bone pain (55.5%), disseminated intravascular coagulation (39.6%), leukoerythroblastosis (35.3%), and leukopenia (24%). The vast majority (96.3%) of metastatic tumors were identified by morphology alone; however, in approximately 2.7% of cases, immunohistochemistry was required due to subtle morphologic features. In 29.6% (16/54) of patients, BMM was identified prior to or concurrently with other metastatic sites. The median time interval between the initial diagnosis of non-hematolymphoid malignancies and BMM was 29 months. Although patients who received anti-tumor treatment after BMM diagnosis demonstrated longer overall survival (P < 0.01), no significant differences were observed between those treated with immunotherapy versus chemotherapy and/or radiotherapy (P = 0.145).

Prostate and breast carcinomas are the most common malignancies associated with BMM, with anemia, reticulocytosis, and thrombocytopenia being the most frequent clinical manifestations. While our data show that receipt of anti-neoplastic treatments, regardless of regimen, was associated with improved overall survival after BMM, no significant survival differences were observed when prostate and breast carcinomas were compared with other types of BMM.

Systemic light chain (AL) amyloidosis is a rare and potentially fatal disease characterized by the abnormal deposition of homogeneous, amorphous amyloid proteins in tissues and organs. This deposition leads to varying degrees of structural and functional abnormalities, ultimately causing organ dysfunction and failure. The disease often involves multiple systems and organs, including the heart, kidneys, gastrointestinal tract, liver, and nervous system, with cardiac and renal involvement being the most common. Due to its rarity, multisystem involvement, and rapid progression, a comprehensive summary of the diagnosis and treatment of AL amyloidosis is crucial for guiding clinical practice and advancing research in this field. This article reviews the progress in diagnosis and discusses future treatment of AL amyloidosis, aiming to provide expanded options for clinical practice.