Neuro endocrinology letters最新文献

Background: Leigh syndrome (LS) is one of the most common mitochondrial disorders in the pediatric population, primarily affecting infants and children. It presents with diverse clinical manifestations and is often misdiagnosed or underdiagnosed in clinical practice.

Case presentation: In the present investigation, a retrospective analysis was conducted on a pediatric case manifesting symptoms akin to Takotsubo cardiomyopathy (TTC) characterized by an acute onset. The clinical manifestations and radiographic imaging data of the pediatric patient were analyzed. In addition, genetic screening on the patient and her family members was conducted. Based on these findings, the patient was conclusively diagnosed with LS. Subsequently, the relevant literature was reviewed, and the clinical characteristics of this disease were summarized.

Conclusion: There were no prior reports of LS concomitant with TTC. TTC is a severe complication of LS. Early detection and comprehensive treatment are crucial for the successful recovery of patients with TTC. The case examined in this study provides valuable insights into the successful treatment of LS concomitant with TTC.

Background: Reaction time is an important indicator of psychomotor performance and central nervous system efficiency. Obesity has been associated with various metabolic and cardiovascular complications; however, its relationship with basic psychomotor functions such as visual reaction time remains inadequately explored, particularly among young adults.

Aim: To evaluate the correlation between body mass index (BMI) and visual reaction time (VRT) in young adults.

Materials and methods: This prospective cross-sectional analytical study was conducted among 385 apparently healthy adults aged 18-35 years. Body mass index was calculated using standard anthropometric measurements, and participants were categorised into BMI groups based on WHO criteria. Visual reaction time was assessed using an audio-visual reaction time apparatus. Normality was assessed using the Shapiro-Wilk test, and Spearman's rank correlation was used for statistical analysis.

Results: A statistically significant positive correlation between BMI and visual reaction time was observed among obese participants (ρ = 0.314, p < 0.001). Obese individuals exhibited a median visual reaction time of 268 ms compared to 232 ms in normal-weight participants - a 36 ms (15.5%) prolongation.

Conclusion: Higher BMI was associated with prolonged visual reaction time among obese young adults, suggesting early changes in psychomotor performance related to obesity. Visual reaction time may serve as a simple, non-invasive tool to detect subtle neurofunctional changes associated with increased adiposity.

Background: Research confirms that inflammatory responses play a significant role in the pathogenesis of type 2 diabetes mellitus (T2DM). However, existing studies primarily rely on single or traditional inflammatory markers. The diagnostic value of emerging composite inflammatory markers, such as the platelet-lymphocyte ratio (PLR), lymphocyte-monocyte ratio (LMR), and others, remains unclear in Chinese populations aged ≥40 years. This study aims to investigate the association between these novel inflammatory markers and T2DM in this age group. This study aims to investigate the association between these novel inflammatory markers and T2DM in Chinese adults aged 40 years and older.

Methods: Data were obtained from the Health Examination Center of the First Affiliated Hospital of Wannan Medical College in Wuhu City, China. Nine inflammatory markers were derived from complete blood counts. Multivariate logistic regression models were employed to assess the association between inflammatory markers and T2DM. Subgroup analyses were conducted to validate the robustness of the findings.

Results: Among 194,348 participants (31,951 with T2DM, 162,397 controls), individuals with T2DM exhibited significantly elevated levels of MHR, NLR, SII, SIRI, AISI, and TyG (p < 0.001 for all), while PLR and PNR exhibited inverse associations (p < 0.001). In fully adjusted models, the highest tertile versus lowest tertile showed ORs of 7.20 (95% CI: 6.92-7.50) for TyG, 1.71 (1.64-1.79) for AISI, and 0.62 (0.60-0.65) for PNR. LMR showed no linear trend after full adjustment (p for trend = 0.301). Medication data were incomplete, precluding assessment of whether anti-inflammatory drug use (statins, aspirin) influenced these associations. Subgroup analyses revealed effect modification by age, sex, BMI, and hypertension for PLR, PNR, and TyG indices (p for interaction < 0.05).

Conclusions: Elevated inflammatory markers in patients with T2DM are associated with prevalent diabetes in this cross-sectional analysis. The temporal relationship between inflammation and T2DM development cannot be determined from this study design. These readily available inflammatory markers may hold value for diabetes risk assessment.

Objective: Cerebral salt-wasting syndrome (CSWS) is an underdiagnosed cause of hyponatremia following intracranial injuries. This case highlights the diagnostic challenges of CSWS in elderly patients, particularly when typical volume depletion signs are absent.

Case: We report an 80-year-old male with multiple comorbidities who developed CSWS following motor vehicle accident-related subarachnoid hemorrhage. The patient was confused, with a Glasgow Coma Scale (GCS) score ranging from eight to ten. Serum sodium declined significantly from 145 to 117 mmol/L approximately 20 days. The patient remained euvolemic with normal urine output and did not respond to fluid restriction. Elevated 24-hour urine sodium (563 mEq), and brain natriuretic peptide (154 pg/mL) confirmed CSWS. The patient initially responded to treatment; however, on the seventh day after discharge, he presented to the emergency department with a seizure. The patient died with a serum sodium level of 109 mmol/L.

Conclusions: CSWS can present without volume depletion signs. Differentiation from SIADH is pivotal, as the therapeutic approaches vary considerably. In this group of patients with intracranial trauma, the prognosis may be worse due to the risk of recurrent severe hyponatremia. Despite treatment, fatal recurrence highlights the need for intensive outpatient follow-up and frequent sodium monitoring.

Objectives: To characterize the spatiotemporal brain activation patterns evoked by five culturally validated emotion categories-Calm, Afraid, Delighted, Depressed, and Excited-in an Indian sample, and to demonstrate the advantages of a nonparametric Bayesian general linear model (GLM) for naturalistic fMRI data.

Materials & methods: Functional MRI data were obtained from 40 healthy, right handed Indian adults (mean age 28.3 ± 9.14 years; 31 males, 9 females) via OpenNeuro (ds005700). Participants viewed 30 s film clips from the Affective Film Dataset from India, interleaved with white noise baselines. Data were preprocessed in SPM12, and regional time series were extracted from 90 cortical/subcortical AAL ROIs using MarsBaR 0.45. We applied the NPBayes fMRI toolbox to fit a spatiotemporal Bayesian GLM with a hierarchical Dirichlet process prior for subject clustering, and spatial basis-function regularization. Posterior inference used Variational Bayes, and activation was declared via posterior probability of inclusion (PPI) thresholded to control a 5% Bayesian false discovery rate.

Results: All emotion conditions engaged early and higher order visual cortices. Calm elicited focal lingual-cuneus activation; Afraid recruited middle/inferior temporal regions; Delighted and Excited amplified visual responses-with Excited also activating parietal attention networks; Depressed combined visual engagement with posterior cingulate/precuneus. The Bayesian framework revealed latent subject subgroups and provided threshold free, reproducible activation maps.

Conclusion: Nonparametric Bayesian general linear model analysis of culturally relevant film stimuli yields nuanced insights into emotion-brain dynamics, controls Type I error without arbitrary thresholds, and uncovers interindividual heterogeneity, offering a robust tool for affective neuroimaging.

Background: This article aims to examine the clinical and familial characteristics of HNF4α-MODY pa-tients who presented with diabetic ketoacidosis (DKA) or diabetic ketosis (DK). Furthermore, it seeks to explore potential pathogenic mechanisms of the HNF4α mutation and to enhance understanding of ketosis susceptibility in this population.

Methods: We collected detailed medical histories and family histories of two diabetes patients. Whole-exome high-throughput sequencing was performed to identify potential genetic muta-tions. The pathogenicity of the mutations was predicted with PolyPhen-2 and Mutation Taster software. PyMOL software was utilized to analyze the impact of the mutations on the protein structure of HNF4α.

Results: Both probands exhibited a decline in pancreatic islet function following disease onset, leading to ineffective sulfonylurea treatment and the development of DKA or DK. Whole-exome se-quencing revealed distinct heterozygous HNF4α mutations in each family. Proband 1, along with her father and elder daughter, carry the c.1331C>T (p. P444L) mutation. Proband 2 and her father harbored the c.929G>C (p. G310A) mutation. Protein structure predictions indi-cates that the c.1331C>T (p. P444L) mutation induces structural changes in the HNF4α pro-tein. Additionally, the c.929G>C (p. G310A) mutation is identified to disrupt hydrogen bonding interactions between the amino acid at position 310 and its surrounding residues.

Conclusion: The G310A variant likely disrupts homodimer stability, impairing islet function, similar to neighboring pathogenic mutations. On the other hand, the P444L variant is considered likely pathogenic, with its variable expressivity within the family being characteristic of MODY. This study demonstrates that some HNF4α-MODY patients may present with DKA or DK, highlighting the condition's clinical heterogeneity.

Background: Fibrosis is a pan-organ wound-healing program, yet stromal mechanisms that are liver-selective and connect liver fibrosis to hepatocellular carcinoma (HCC) remain incompletely defined.

Methods: We assembled public single-cell RNA-seq datasets from fibrotic heart, kidney, liver, and lung with matched controls and applied a unified Seurat integration workflow, differential expression and pathway enrichment, Slingshot pseudotime, and CellChat ligand-receptor inference. We used cross-organ subtraction of shared pan-fibrotic signatures to nominate liver-enriched fibroblast (FB) genes and pathways, intersected these candidates with HCC single-cell datasets and FB trajectories to prioritize fibrosis-aligned, tumor-progression genes, and compared intercellular communication across organs focusing on hepatocyte-FB pairs.

Results: Integration recovered robust FB clusters in each organ without dominant batch effects, supported by canonical FB markers (PDGFRA, LAMB1). Liver FB programs showed endocrine-metabolic rewiring (e.g., insulin/glucagon/FOXO signaling) alongside suppression of xenobiotic/GPCR modules. In HCC, FB subclustering resolved healthy and pathogenic FB states, and Slingshot captured a continuous healthy-to-pathogenic activation axis. Differential expression identified 126 liver-specific upregulated and 239 downregulated DEGs; overlap with HCC pseudotime highlighted SULF2/TIMP3 (fibrosis , progression ) and TNFAIP8 (fibrosis , progression ). Cross-organ CellChat comparisons further prioritized HGF-MET and AGT-AGTR1B as liver-selective axes relative to heart, kidney, and lung, with stellate-to-hepatocyte (HGF-MET) and hepatocyte-to-stellate (AGT-AGTR1B) ligand-receptor expression correlations observed in liver fibrosis and replicated in independent HCC datasets.

Conclusions: Cross-organ single-cell integration prioritizes liver-selective stromal circuitry and nominates hepatocyte-FB axes (HGF-MET, AGT-AGTR1B) as plausible links between fibrogenic remodeling and a pro-tumorigenic niche, yielding testable hypotheses at the interface of regeneration, RAS biology, and tumor initiation.

Objectives: This study aimed to evaluate the outcomes, histopathology and recurrence of pituitary neuroendocrine tumours following Endoscopic Endonasal Transsphenoidal Surgery (EETS) in a single institution, over a period of ten years.

Methods: A retrospective, cross-sectional study evaluated our experience and outcomes of EETS in 152 patients between 2013 and 2024. We analysed patient demographics and histopathology, as well as surgical complications. Outcomes such as tumour recurrence and improvement of visual field defects were recorded.

Results: There were 64 males (42.1%) and 88 female patients (57.9%). Presentations included visual field disturbance, incidentaloma, acromegaly, headaches and Cushing's disease. 133 (87.5%) were macroadenomas and 14 (9.2%) microadenomas. Cavernous sinus invasion was observed in 35 patients (23.0%). Histologically, 72 (47.4%) gonadotroph tumours, 25 (16.4%) somatotroph tumours, 12 (7.9%) non-staining PitNETs/Null cell tumours, 12 (7.9%) corticotroph tumours, 11 (7.2%) plurihormonal tumours, 4 (2.6%) silent corticotroph tumours, 3 (2.0%) cysts, 1 (0.7%) prolactinoma, 1 (0.7%) thyrotroph tumour, and 11 (7.2%) were miscellaneous. Recurrence occurred in 29 (19.1%) patients, out of which 18 (11.8%) required further surgery. 51 (33.6%) patients experienced complications, such as cerebrospinal fluid (CSF) leak in 15 (9.9%) patients. A greater proportion of patients demonstrated normal visual fields postoperatively. Postoperative complications were similar to those reported in literature. Of note, recurrent tumours tended to have a low Ki-67 index of 0-3%.

Conclusion: Our findings are in line with those reported in literature, including histopathology of tumour subtypes and surgical complication rates. Visual field defects significantly improved following EETS. We note that predictors of postoperative recurrence cannot rely on the Ki-67 index alone; radiological, biochemical, and other histopathological markers need to be considered.

Background: The estimated pulse wave velocity (ePWV) calculated using chronological age and blood pressure has been used as a valuable measure of vascular aging. This study aimed to investigate the relationship between early ePWV and all-cause mortality in critically ill patients with hemorrhagic stroke.

Methods: This study included hemorrhagic stroke patients from the Medical Information Mart for Intensive Care IV (MIMIC-IV) database. Participants were categorized into four quartiles based on the ePWV values. The primary outcome was 30-day mortality, and the secondary outcomes were 90-day and 1-year mortality. Cox proportional risk models and restricted cubic spline analyses were conducted to assess the hazard ratio (HR) and 95% confidence interval (CI) for the association between ePWV and outcomes. Receiver operating characteristic (ROC) curves were used to evaluate the predictive value of ePWV.

Results: For 30-day mortality, after adjusting for all confounders, the association remained significant with ePWV considered as a continuous variable (HR, 95% CI: 1.21 [1.16, 1.26]; p < 0.001). The HR with 95% CI for the second, third, and fourth quartile groups were 1.40 (1.07, 1.83), 1.82 (1.37, 2.42), and 3.15 (2.30, 4.32), respectively, compared to the first quartile group. Also, ePWV was found to have a linear relationship with 30-day mortality. Similar findings were found for 90-day mortality and 1-year mortality. When ePWV was incorporated into conventional disease severity scoring systems, the predictive performance of these systems was significantly improved.

Conclusions: This study revealed that higher levels of early ePWV are significantly associated with increased all-cause mortality in critically ill patients with hemorrhagic stroke. ePWV may be a promising prognostic marker for critically ill patients with hemorrhagic stroke.

Objectives: Intra-arterial tirofiban has emerged as a potential alternative for those patients with acute ischemic stroke (AIS). This study evaluated the effectiveness and safety of intra-arterial tirofiban in AIS patients without large- or medium-vessel occlusions.

Material and methods: Sixty patients with AIS who were within 24 hours of symptom onset and did not have significant blockages in large or medium blood vessels were assigned to treatment and control groups via a non-randomized, patient-preference allocation protocol: the control group (n = 30) received intravenous tirofiban and dual antiplatelet therapy, and the treatment group (n = 30) received intra-arterial tirofiban via catheterization, followed by the same medication regimen. The neurological function, functional outcomes, and safety evaluations were measured at 90 days.

Results: Both groups experienced a substantial decrease in NIHSS scores post-treatment (p < 0.05). The treatment group had significantly lower NIHSS scores at 24 hours, 72 hours, and 14 days compared to the control group (p < 0.05). The treatment group had a treatment efficacy rate of 91.1% at 14 days, while the control group had a rate of 80.0% (p < 0.05). At 90 days, both groups showed significant improvements in mRS and BI scores (p < 0.05), with the treatment group having a lower median mRS score and a higher median BI score compared to the control group (p < 0.05). There were no statistically significant differences in the incidence of adverse events between the two groups (p > 0.05).

Conclusion: Intra-arterial tirofiban administration benefits AIS patients without large- or medium-vessel occlusions, improving neurological function, reducing disability, and enhancing functional independence.