Neuro endocrinology letters最新文献

Background: We investigate the clinical and genetic characteristics of hemorrhagic cerebrovascular disease in order to provide a new theoretical basis for the prevention and treatment of hereditary cerebrovascular disease.

Method: Three hereditary cerebral hemorrhage cases were analyzed retrospectively. The patients' families were surveyed, the clinical characteristics summarized, and gene polymorphisms investigated.

Results: Among the three cases, two patients had familial cerebral cavernous hemangiomas, and genetic testing revealed a heterozygous mutation in the CCM1 gene, with a deletion of base (T) in exon 15 (c.1542delT). The last patient had hereditary cerebral hemorrhage with amyloidosis, Finnish type, and the proband, his mother, and his daughter were found to have a heterozygous G duplicate mutation at position 100 in exon 1 of the GSN gene (c.100dupG).

Conclusions: Future screening for genetic mutations associated with a high-risk of hereditary cerebral hemorrhage can help identify individuals at risk for this condition and thereby reduce the occurrence and progression of the disease. Such screening will further enhance the precision in preventing and treating cerebrovascular diseases.

Objectives: The etiology and pathologic mechanism underlying Alzheimer's disease (AD) are not clear. This study determined the effects of tau on amyloid-beta peptide(Aβ)-induced synaptic damages in a Drosophila model of AD.

Methods: Galactose-regulated upstream promoter element 4(Gal4) and an upstream active sequence system was used to establish four kinds of Aβ transgenic Drosophila models of AD. Behavioral evaluation and immunohistochemical localization were performed in Aβ transgenic Drosophila models. Tau mutants were introduced into arctic mutant Aβ1-42 (arctic mutant Aβ [Aβarc]) Drosophila. The P{Gal4}A307 Drosophila strain was used as a control group; 12 strains were obtained to determine the effects of tau with or without Aβarc. Electrophysiologic records of the tau mutant groups were created.

Results: The flight and crawling ability of Aβ transgenic Drosophila were gradually weakened compared to the control group, and the life span was significantly shorter than the control group. Aβ was specifically expressed in the Drosophila giant fiber pathway and further accumulated in neuronal cell bodies based on immunohistochemistry. The percentage of the excitatory junctional potential (EJP) response in transgenic Drosophila expressing Aβarc was significantly decreased, which was approximately 40% lower than the control group. The tau deletion mutation alleviated the synaptic transmission disorder caused by Aβ and improved the viability of Drosophila.

Conclusion: The tau deletion mutation significantly improved the synaptic damage caused by Aβ, and tau protein played an indispensable role in the synaptic dysfunction caused by Aβ, suggesting that Aβ and tau have close interactions in the pathogenesis of AD.

Objective: To investigate the effects of estrogen on the threshold and temperature of orofacial pain and explore the influence on the function of glutamate and GABA neurons in the orofacial pain temperature perception pathway by observing the expression of vesicular glutamate transporter 2 (Vglut2) and vesicular GABA transporter 1 (Vgat1).

Methods: A total of 24 adult female Sprague-Dawley rats were divided into three groups: sham operation (SHAM), ovariectomized (OVX) and ovariectomized plus estrogen intervention (OVX+E) (n = 8 per group). The threshold of mechanical pain of the orofacial region was assessed with von Frey filaments, and the temperature of the rat orofacial region was monitored by infrared thermography. Changes in the expression of Vglut2 and Vgat1 in glutamatergic and GABAergic neurons in the trigeminal ganglion (TG), spinal trigeminal nucleus (Sp5C), lateral parabrachial nucleus (LPB) and ventral posteromedial nucleus of the thalamus (VPM) were assessed by immunostaining and Western blotting.

Results: Under low-estrogen conditions, the mechanical pain threshold of the orofacial region of rats decreased significantly, and the temperature of the orofacial region increased significantly. The expression of Vglut2 and Vgat1 in the TG and Sp5C showed a downward trend, and the decline in Vgat1 was greater than that in Vglut2. Conversely, both proteins were upregulated in the LPB and VPM, and the magnitude of the changes in Vglut2 was greater than that in Vgat1. Estrogen therapy reversed these changes.

Conclusion: Under low-estrogen conditions, the proportion of glutamate and GABA neurons in the orofacial pain and temperature sensation pathway changes, which leads to the imbalance of neurotransmission function and the enhancement of excitatory transmission of these two kinds of neurons and finally leads to a decrease in the orofacial pain threshold and an increase in temperature.

Objective: Patients with hypoparathyroidism always present with recurrent tetany caused by hypocalcemia. These patients are usually misdiagnosed with epilepsy and incorrectly treated with anti-epileptic drugs. This research analyzed clinical data about 22 patients with hypoparathyroidism misdiagnosed as epilepsy and summarized the clinical experience for reducing misdiagnosis and incorrect therapy about hypoparathyroidism.

Method: Totally 160 patients with hypoparathyroidism, administrated to the First Medical Center of Chinese PLA General Hospital from January 1st, 2008, to July 1st, 2021, were enrolled in this report. Clinical data about 22 patients initially misdiagnosed with epilepsy were analyzed.

Results: Of the 160 cases with hypoparathyroidism, 22 patients (12 males and 10 females) were misdiagnosed with epilepsy in local hospitals. The misdiagnosis rate was 13.75% and the median duration of misdiagnosis was 8.0 (2.0, 14.8) years. The clinical manifestations of the 22 patients misdiagnosed as epilepsy included tetany 81.8% (18/22), disturbance of consciousness 27.3% (6/22), limb numbness 13.6% (3/22), limb weakness 27.3% (6/22), mental and behavioral abnormality 9.1% (2/22), and memory impairment 13.6% (3/22), etc. Electroencephalogram (EEG) was performed in 9 cases, which presented as slow wave and spike-slow complex wave in 3 cases, slowing down of θ and δ band background in 2 cases and normal EEG in 4 cases. Out of the 15 cases that underwent head computed tomography (CT) scan, in which 13 cases had intracranial calcification. Anti-epileptic drugs were used to treat 22 patients, of which 17 patients were treated with two kinds of drugs. With calcium and calcitriol supplement in all these 22 patients, the anti-epileptic drugs were gradually reduced and withdrawn in 17 cases. In the other 5 cases with secondary epilepsy, the type of anti-epileptic drugs was reduced to one and the clinical condition improved obviously.

Conclusion: The clinical manifestations of hypoparathyroidism are complex and usually be misdiagnosed as primary epilepsy. Detection of serum calcium, phosphorus and parathyroid hormone is very important to avoid misdiagnosis and incorrect therapy about hypoparathyroidism.

Objective: To explore the heart function by echocardiography during induction of General anesthesia with or without hypertension.

Design: Thirty-seven subjects were enrolled to this study. According to blood pressure, patients were allocated to normal group (n=18) and hypertension group (n=19). The Hitachi HI VISION PREIRUS color echocardiography system was used to trace heart function before and after General anesthesia.

Setting: Affiliated Hospital of a University.

Results: Before and after General anesthesia in the normal group, the E peak and Aa peak were reduced, and the difference was statistically significant (P <0.05). The other indexes were not statistically significant. E peak, A peak, Ea peak, and Aa peak were reduced, and the difference was statistically significant (P <0.05) before and after General anesthesia in the hypertension group. The left atrial function, left atrial duct function, and left atrial pump function reduced after General anesthesia in hypertension group, and the differences were statistically significant (P <0.05). And there was no significant difference in the Tei index which reflected whole cardiac function after General anesthesia.

The main findings: In the hypertension group, the left atrial function was influenced during the induction of General anesthesia compared with normal group.

Conclusions: The effect of General anesthesia on the atrium is greater than that of the ventricle.

Objectives: In sporadic pituitary adenomas, the role of Ubiquitin-specific protease 8 (USP8) is not clearly defined. Mutations in USP8 gene are known to influence formation of the corticotroph adenomas. However, it has not been clarified whether changes in expression of USP8 have an impact on other pituitary adenomas or not. In this study we addressed the changes in USP8 gene expression levels in pituitary adenomas (PA) relative to non-adenomatous brain tissue.

Material and methods: USP8 gene expression analysis was performed on a total of 43 tissue samples from human pituitary adenomas and on 16 tissue samples from non-pituitary brain tissues (control group). Adenomatous tissues and control tissues were assessed for quantification of RNA expression of USP8.The levels of USP8 gene expression were determined relative to those in control group.

Results: Overall, the USP8 gene expression levels in PA were 3.7 times higher than the control brain tissues (CBT) (p=0.002). However, after stratification, only the USP8 in the secretory PA were higher than CBT(p=0.002).

Conclusions: Present findings support that USP8 gene expression levels may contribute to pitutary tumorigenesis and hormonogenesis..

Objectives: Neuroendocrine neoplasms (NENs) are an extremely heterogeneous medical entity, representing a diagnostic and therapeutic challenge. Chronic inflammation, as is the case with other malignancies, plays a crucial role in NEN carcinogenesis.

Design: The complete blood count (CBC) is a reliable tool for monitoring patients with cancer. Quantifying the absolute count of neutrophils (N), lymphocytes (L), platelets (P), and the ratios that derive from these parameters (neutrophil-to-lymphocyte ratio - NLR, platelet-to-lymphocyte ratio - PLR, and inflammatory systemic index - SII calculated as N×P/L) proved their prognostic and predictive value in numerous malignancies.

Materials and methods: We aimed to investigate the utility of these hematological parameters in 31 patients with NENs of various locations. Our study included the comparative analysis of pre-treatment hematological markers in NEN patients versus 21 age and gender matched healthy individuals. Additionally, for 26 out of the 31 patients included we analyzed and compared the inflammatory markers before and after treatment initiation.

Results: The results revealed a statistically significant higher median value of N, NLR, PLR and SII in the NENs group in comparison with the values obtained in the control group and higher values of N, NLR and SII in the pretreatment group. Furthermore, we observed a higher mean value of the post-treatment P in the pancreatic NENs as opposed to the values obtained for other tumor locations.

Conclusions: The current study emphasizes the importance of the evaluation of CBC in the NENs setting thus adding value to prognostic models that can be useful for risk stratification and medical decision-making.

Objective: The aim of this research was to investigate the prevention, diagnosis, and treatment of patients after COVID-19 with the possibility of using artificial intelligence and virtual reality in combination with traditional approaches to patient rehabilitation.

Materials and methods: Statistical methods were used to evaluate the situation of COVID-19 worldwide and in Slovakia until March 2022. We investigated the rehabilitation options of breathing exercises, upper and lower limb rehabilitation, and cognitive tasks in patients with post-COVID syndrome who met the criteria for a combined rehabilitation program using virtual reality. Using artificial intelligence, we can predict in advance the evolution of the pandemic according to the records of infected patients and the evolution of the pandemic in the world, taking into account nearby territories. In the treatment of post-COVID syndrome, parameters have been identified that can be measured to objectively assess the improvement of the patient's condition and to continue personalizing individual rehabilitation scenarios.

Results: In the patients who underwent the combined rehabilitation method, we observed progress in their ability to improve breathing, limb motor skills and also cognitive function of the patients. We identified different categories of parameters that can be evaluated by artificial intelligence methods, and we evaluated different scenarios using the exterior of nature and the interior of the room of the rehabilitation method of virtual reality, as well as the key elements of the "WOW" effect creating emotional changes in the patient for their motivation.

Conclusion: We showed that artificial intelligence and virtual reality methods have the potential to accelerate rehabilitation and increase motivation in patients with post-COVID syndrome.

Objectives: This study aimed to investigate the role of estrogen in the differential diagnosis of depression and schizophrenia and its relationship with the curative effects, adverse events.

Methods: From 2017 to 2019, patients with depression or schizophrenia treated with modern electroconvulsive therapy (MECT) were studied retrospectively. Their serum estrogen levels, Hamilton Depression Scale, and Brief Psychiatric Rating Scale scores were collected. Differences in the estrogen levels between patients with depression and schizophrenia before and after treatment and the correlation of the estrogen level with curative effect and adverse events was evaluated. In total, 67 patients with depression and 61 with schizophrenia were included.

Results: There were no significant differences in the baseline characteristics, except the estrogen level (p < 0.001). Serum estrogen levels increased in both groups after MECT (117 vs. 141 pmol/L, p < 0.001; 42 vs. 46 pmol/L, respectively; p < 0.001), and higher estrogen levels were positively correlated with better outcomes (p < 0.001).

Conclusion: Post-MECT estrogen levels were not associated with the incidence rate of adverse events of MECT. Estrogen plays a promising role in distinguishing depression and schizophrenia and evaluating the therapeutic efficacy of MECT.

We present a case of silent rupture of the renal artery aneurysm in a pregnant woman brought to the maternity hospital in shock. Renal artery aneurysms (RAA) are rare and account for 0.01-0.5% of all aneurysms with an incidence of approximately 0.09%. Rupture of the renal artery aneurysm is a rare and severe complication associated with extremely high morbidity and mortality in both mother and fetus. Thanks to the improvement and effectiveness of medical care in the 21st century, fetal mortality decreased by 70-80%, and 60-70 % for the mother. The essence of a successful management of this serious, life-threatening condition is a close cooperation between obstetricians, midwives, anesthesiologists, general surgeons, and vascular surgeons.