Neuro endocrinology letters最新文献

Introduction: Myasthenia Gravis (MG) and Addison's Disease (AD) co-existing is very rare. The estimated prevalence of this co-occurrence is less than 1 in 100 000, underscoring its clinical significance. We present a female case with coexisting AD and MG. A 45-year-old female arrived at our clinic complaining of breathing difficulties for a month, a drooping left eyelid, and swallowing difficulties for 10 days. She has been treated with 5 mg/day prednisone for AD for three years. Long-term corticosteroid therapy may modulate immune responses and influence the timing of MG onset. Neurological evaluation revealed partial ptosis in the left eye and mild tetraparesis (4/5 strength).

Case report: Cortisol level was 0.8 µg/dL, and adrenocorticotropic hormone (ACTH) level was 987 ng/L, an adrenal crisis was excluded. The anti-acetylcholine receptor antibody (anti-AChR antibody) level was 8.37 nmol/L (> 0.4 nmol/L). Repetitive nerve stimulation, neostigmine, and Simpson tests were compatible with MG. Therefore, she was diagnosed with MG.

Conclusions: Acetylcholine antibodies in MG may indicate that other autoimmune diseases may be added to the clinic in these patients. Keeping in mind the presence of the underlying MG may be life-saving for those who do not react well to therapy or in the case of newly added findings in AD patients.

Background: This study aimed to investigate the relationship between serum total bilirubin (TBIL) and diabetes mellitus (DM) in a large health checkup population in China.

Methods: A cross-sectional study was conducted in 2011-2016 at the Physical Examination Center of the First Affiliated Hospital of Wannan Medical College, involving 302,515 subjects. Logistic regression and restricted cubic splines were used to determine the associations between TBIL and DM. The relationship between TBIL and fasting plasma glucose (FPG) was explored through the application of generalized linear models.

Results: Quartiles of TBIL were negatively associated with DM after multivariable adjustment, compared with Q1, the ORs of Q2, Q3 and Q4 for DM were 0.971 (95% CI: 0.923-1.022), 0.922 (95% CI: 0.876-0.971), and 0.880 (95% CI: 0.836-0.927), respectively (p < 0.001). The restricted cubic spline model showed a non-linear relationship between TBIL and DM (p < 0.001), with the ORs for DM increasing progressively, reaching a threshold at the TBIL level of 14.54 µmol/L. The relationship between TBIL and FPG was also non-linear, with a threshold at TBIL of 20.10 µmol/L. FPG decreased with TBIL when TBIL < 20.10 µmol/L and increased when TBIL ≥ 20.10 µmol/L (p < 0.001). After stratifying by gender and age, the results revealed similar patterns.

Conclusion: Our study identified that moderate to low levels of TBIL are significantly negatively correlated with DM. In contrast, high levels of TBIL are positively correlated with DM, with a threshold of 14.54 µmol/L. A non-linear relationship was also observed between TBIL and FPG, with a threshold of 20.10 µmol/L.

Clarifying the etiology of mental disorders should lead to significant therapeutic and preventive measure improvements. Mental disorders are caused by genetic, epigenetic, and environmental factors. A valid assessment of environmental etiological factors is complicated due to a lack in methodologies. We aim to demonstrate how to optimally assess the environmental etiological factors with a special focus on stress. We searched the PubMed database up to December 2024 for relevant state-of-the-art references. The most frequently used stress assessment method involves self-reporting questionnaires. Blood or salivary cortisol, heart rate, respiratory rate, plethysmography readings, and electrodermal activity are biological markers of acute stress. Other biological markers such as hair and nail cortisol levels, telomere length, mitochondrial DNA copy number, and epigenetic markers are indicative of a history of stress. A quantitative prospective assessment of environmental etiological factors including their frequency, severity, total exposure length, timing, and possible accumulation is still needed. In addition, protective environmental factors of mental disorders should not be neglected.

Purpose: This study assessed the efficacy of 3.0T magnetic resonance angiography (MRA) in individuals with primary hemifacial spasm (pHFS) by investigating the relationship between alterations in the morphology of the vertebrobasilar artery system and pHFS.

Methods: A comparison was made between pHFS patients and healthy controls with respect to vertebral artery diameter, displacement rate, and other relevant parameters to explore the potential role of morphologic abnormalities in the vertebrobasilar arteries in the pathogenesis of pHFS. Independent t-tests and Wilcoxon rank-sum tests were used with statistical significance set at a p < 0.05.

Results: A total of 100 pHFS patients and 150 healthy participants underwent 3.0T MRA scans for this analysis. The right vertebral artery (VA) diameter in the pHFS group was larger than the healthy control (HC) group (2.71 mm vs. 2.47 mm; p < 0.05) and the left VA deviation distance in the pHFS group was greater than the HC group (7.99 mm vs. 5.27 mm; p < 0.05). The basilar artery deviation distance in the pHFS group was greater than the HC group (7.41 mm vs. 4.78 mm; p < 0.05). The VA deviation rates in the pHFS group were significantly higher than the HC group (89% vs. 72% and 96% vs. 84.67%, respectively; p < 0.05). The VA scores on the symptomatic and non-symptomatic sides were significantly different (p < 0.05). VA migration increased with age (p = 0.034, r = 0.225).

Conclusion: The results imply a potential association between morphologic irregularities in the vertebrobasilar arteries and pHFS. Limitations of the study included substantial missing data for displacement measurements (64%-67%), age differences between groups, and selection bias from the surgical population.

Background: Autism Spectrum Disorder (ASD) is a neurodevelopmental condition that impairs communication. Increasing research indicates that maternal immune activation (MIA) is one of the most important environmental factors that increase the risk of autism spectrum disorder (ASD) in offspring. Maternal immune activation produces elevated cytokine levels that cross the placental barrier and disrupt fetal neurodevelopment, increasing ASD risk. However, the specific causal pathways and mediating mechanisms remain unclear, limiting our understanding.

Methods: This mediation Mendelian randomization study examined causal pathways linking immune cell traits (exposures) and inflammatory factors (mediators) to ASD risk.The research merged immune data (731 phenotypes + 48 cytokines) and ASD data from a cohort comprising 18,382 cases and 27,969 controls. Various MR approaches were used to reduce potential biases, along with thorough descriptions of statistical procedures and instrumental variable selection.

Results: The study's findings propose potential causal relationships among cytokines representing inflammatory factors, immune cells, and ASD through mediation Mendelian randomization. Reverse MR was then employed to investigate the possibility of reverse causality. CD8+ T cell %leukocyte (OR = 1.099, 95% CI: 1.039-1.163, p = 0.001), CCR2+ CD62L+ myeloid dendritic cells (OR = 0.933, p = 0.029), and CD45+ immature myeloid-derived suppressor cells (OR = 1.056, p = 0.001) showed evidence of causal association with ASD risk.Furthermore, reduced Artemin levels and elevated FLT3L and 2B4 levels were significantly linked to ASD risk, indicating that abnormalities in immunomodulatory factors may play a crucial role in the pathogenesis of ASD. Additionally, ASD occurrence may result in alterations in Natural Killer cell receptor 2B4 levels.

Conclusion: This mediation Mendelian randomization study provides evidence that immune dysfunction is associated with ASD pathophysiology through inflammatory mediators, requiring functional validation before clinical application.Cytokines act as mediators in the pathogenesis of ASD, providing a theoretical basis for understanding its immunoinflammatory pathogenesis and offering insight into treatment.

Theoretical background: The intersections of inclusion, resilience, and socialisation within artistically stimulating environments are increasingly recognised in the education of individuals with Intellectual and Developmental Disabilities (IDD) and Autism Spectrum Disorders (ASD). However, scholarly attention remains limited regarding pre-professional support systems that integrate artefiletic (reflective) educational principles with studio practice.

Objective: This paper explores how artistic engagement in the field of outsider art offers transformative opportunities for advancing human rights and fostering sociocultural participation.

Methodology: The study employs a qualitative longitudinal case study design (2016-2024), utilising participatory observation and unstructured interviews to track the development of a neurodivergent artist ("Ms. Petra") within a university-based inclusive studio in the Czech Republic.

Results: Findings demonstrate that long-term studio engagement enabled the participant to transition from a medical model of disability to a sociocultural one. Specifically, the artistic practice served as a non-verbal catalyst for emotional articulation, strengthened self-identity, and established a sustainable support network involving family and university facilitators.

Conclusion: The research confirms that resilience is a learned educational outcome fostered by safe, democratic studio environments. The proposed holistic studio model offers a transferable framework for supporting the lifelong learning and professionalisation of artists with dual exceptionality.

Background: Despite the therapeutic potential of repetitive transcranial magnetic stimulation (rTMS) for spinal cord injury (SCI), little is known about its specific effects on mitochondria. This study therefore aimed to elucidate the effects of rTMS on mitochondrial structural integrity following SCI.

Methods: Female wild-type C57BL/6J mice were randomly divided into four groups: normal group; spinal cord injury group; sham-rTMS group and rTMS group. Hindlimb motor function was evaluated using the Basso Mouse Scale (BMS). The mitochondrial integrity was assessed by transmission electron microscopy, and the expression of the outer membrane protein TOM20 was analyzed by Western blot and immunohistochemistry.

Results: Compared to the SCI group, rTMS group induced a coordinated recovery, characterized by significantly improved BMS scores, enhanced mitochondrial structural integrity, and increased levels of the mitochondrial membrane protein TOM20 (p < 0.05).

Conclusion: Our findings demonstrate that rTMS promotes motor recovery after SCI via the preservation of mitochondrial structure.

Objective: To analyze the clinical data of 14 patients with androgen-secreting ovarian sex cord-stromal tumors (OSCSTs), a rare cause of female hyperandrogenism (HA), aiming to enhance differential diagnosis and reduce misdiagnosis of these diseases.

Methods: Fourteen female patients with pathologically confirmed OSCSTs were retrospectively enrolled in this study.General clinical data were retrospectively collected from medical records, encompassingclinical manifestations, diagnostic and therapeutic interventions. A systematic literature review about the management of OSCSTs were performed.

Results: Among 14 female patients with OSCSTs, age ranged from 12 to 69 years (mean ± SD: 34.4 ± 20.1 years), with symptom duration prior to diagnosis spanning 1-6 years (2.3 ± 1.4 years). Adolescent and reproductive-aged patients (n = 10) universally exhibited oligomenorrhea/amenorrhea with virilization, while postmenopausal patients (n = 4) presented with virilization alone. Preoperative testosterone levels were markedly elevated in all these patients (range 3.90-119.6 nmol/L; normal: 0.2-2.6). Imaging evaluation revealed ovarian masses on ultrasound in 78.6% (11/14) of cases. After complete tumors resection, testosterone reduced significantly to 0-6.51 nmol/L within 48 hours with complete resolution of hyperandrogenism symptoms. Adjuvant chemotherapy was administered in two patients with moderately/poorly differentiated Sertoli-Leydig cell tumors (Ki67 >30%). At one-month follow-up, testosterone normalized (0.5-2.6 nmol/L) in all patients with concomitant resolution of menstrual irregularities and improvement in virilizing symptoms.

Conclusion: OSCSTs are rare but clinically significant causes of hyperandrogenism, characterized by symptoms of HA such as oligomenorrhea, acne, hirsutism, and clitoromegaly. It has always been misdiagnosed due to overlapping features with PCOS and adrenal disorders. Early identification and complete surgical resection are critical for biochemical remission and symptom resolution.

Objective: The association of Gamma-glutamyltransferase (GGT) with hypertension remains unclear due to previous studies. This study aims to investigate the relationship between GGT and hypertension in a large health checkup population from Wuhu, China.

Methods: A cross-sectional study was conducted at the First Affiliated Hospital of Wannan Medical College from 2011 to 2016. A total of 303,431 individuals who underwent physical examination and biochemical testing were enrolled in this study. Multivariable logistic regression model and restricted cubic spline models were employed to examine the relationship between GGT levels and hypertension.

Results: Compared to individuals with normal blood pressure, GGT levels were higher in the hypertensive group (23.15 [14.00-34.98] vs. 37.00 [21.00-51.00] U/L, p < 0.001), and the prevalence of elevated GGT was also higher (9.59% vs. 25.12%, p < 0.001). After adjusting for age, sex, smoking, drinking, BMI, triglycerides, total cholesterol, total protein, and albumin (Model 4), GGT quartiles were significantly associated with hypertension (p < 0.001). Compared with Q1, the odds ratios (ORs) for hypertension were 0.958 (95% CI: 0.926-0.991), 0.717 (95% CI: 0.691-0.743), and 2.421 (95% CI: 2.340-2.504), respectively. The restricted cubic spline model demonstrated a nonlinear association between GGT and hypertension (p < 0.001). The odds ratio (OR) for hypertension initially decreased and then increased as GGT levels rose. When GGT levels ranged from 15.03 U/L to 24.61 U/L, the OR for hypertension was less than 1.0. Similar trends were observed after grouping by gender.

Conclusions: This study found a positive association between GGT and hypertension at both low and high GGT levels, while a negative association was observed at moderate GGT levels.

Introduction: Pituitary adenomas are the primary cause of Cushing's disease (CD), yet they can produce negative MRI findings when coexisting with empty sella syndrome, complicating diagnosis. This case illustrates how advanced imaging and endocrine testing overcome this diagnostic challenge.

Case description: A 54-year-old woman was admitted to our hospital due to facial plethora, hyperglycemia and forearm pustules. The endocrine function test suggested CD at first. However, the initial enhanced MRI revealed an empty sella. Based on the positive results of bilateral inferior petrosal sinus sampling, we performed high-resolution dynamic enhanced MRI of pituitary gland. Finally, we discovered pituitary nodules on the background of empty sella. The patient accepted surgical treatment and the postoperative outcomes were favorable.

Conclusion: Empty sella does not exclude the diagnosis of CD. Standardized endocrine function tests and advanced imaging technology play decisive roles in the qualitative and etiological diagnosis of CD, and we also emphasize the importance of clinical thinking.