RESUMO
Objective:To analyze the clinical characteristics of adult-onset patients with familial neuronal intranuclear inclusion disease (NIID).Methods:The clinical data of 3 patients with familial NIID genetically diagnosed in Department of Neurology, Sixth Affiliated Hospital of Guangzhou Medical University in August 2021, January 2022, and August 2022 were collected. Their clinical manifestations, imaging features, pathological features, Notch2 N-terminal-like C ( NOTCH2NLC) gene mutation characteristics, treatment methods and prognoses were summarized retrospectively. Results:The age of these 3 patients was 73, 67, and 65 years, and the onset age was 68, 64, and 56 years, respectively. The clinical manifestations are highly heterogeneous. In patient 1, the nervous centralis, peripheral nerves and autonomic nerves were involved, appearing dementia, epilepsy, Parkinson's syndrome, muscle weakness and uremia; in patient 2, only the nervous centralis were involved, presenting symptoms of Parkinson's syndrome; in patient 3, peripheral nerves and autonomic nerves were involved, prominently presenting with repeated vomiting. Skull diffusion weighted imaging (DWI) showed asymmetric high signal at the dermo-medullary junction in 3 patients. Acidophilic inclusion bodies in some sudoriferous duct epithelial cells, and vascular endothelial nucleus were found in the skin biopsy of 2 patients. All 3 patients completed NOTCH2NL gene test, and all had GGC repeat amplification mutations with mutation frequency>134. These 3 patients were mainly treated symptomatically, and the disease was still progressed gradually. Conclusion:The clinical manifestations of familial NIID are highly heterogeneous; skull MRI characteristic changes and skin biopsy can help to diagnose NIID and NOTCH2NL gene detection can diagnose NIID.
RESUMO
Objective To investigate the clinicial significance of continuous glucose monitoring(CGM)of patients with severe traumatic brain injury(sTBI). Methods By glucose monitoring method,80 patients with sTBI〔Glasgow coma score(GCS)3-8〕in Department of Critical Care Medicine of Qingyuan People's Hospital in Guangdong Province from January 2012 to December 2012 were divided into two groups:41 patients in CGM group and 39 in regular glucose monitoring(RGM)group. The continuous glucose monitoring system(CGMS)was applied to monitor glucose level in the CGM group,and the finger blood was taken by portable blood glucose meter in the RGM group. The two groups were treated with insulin on the basis of glucose level,respectively. The relationships between the condition of glycemic excursions and the acute physiology and chronic health evaluationⅡ(APACHEⅡ)score or prognosis and between the incidence of hypoglycemia and prognosis were seen in the two groups. Results The close linear correlations between APACHEⅡ score and glycemic excursion in two groups,i.e. mean amplitude of glycemic excursions(MAGE)and coefficient of variation of glucose(GluCV),were documented(both P<0.05). The MAGE of the especially severe patients(GCS 3-5)was obviously higher than that of severe ones(GCS 6-8),and with the increase of APACHEⅡ score,the MAGE of patients was gradually elevated,the difference being statistically significant(both P<0.05). The incidence of hypoglycemia(7.32%vs. 23.08%)and fatality rate of 30 days(12.20%vs. 30.77%)in CGM group were lower than those of RGM group(both P<0.05). The MAGE and fatality rate of 30 days were positively correlated in CGM group(r=0.597,P=0.007),and the GLuCV and fatality rate of 30 days were positively correlated in RGM group(r=0.622,P=0.019). Conclusion CGM is beneficial to timely observe condition of glycemic excursions in sTBI patients and avoid occurrence of hypoglycemia or hyperglycemia,guiding the treatment of insulin and improving patients' prognosis.
RESUMO
AIM:To investigate the autophagy induced by sepsis and acute kidney injury , and the regulation of phosphoinositide 3-kinase (PI3K)/protein kinase B (Akt) signaling pathway in this process.METHODS: The rats were subjected to cecal ligation and puncture ( CLP) or sham operation .Histopathologic changes of the renal tissues were examined by HE staining .Blood urea nitrogen ( BUN) and serum creatinine ( SCr) were measured by chemical colorime-try.The protein expression of microtubule-associated protein light chain 3 I/II (LC3 I/II), beclin-1 and p-Akt at different time points after CLP was detected by Western blotting .In vitro, human proximal tubular epithelial cell line HK-2 were treated with LPS to induce autophagy .The protein expression of LC 3 I/II and p-Akt in the HK-2 cells after LPS treatment at different time points and different concentrations was detected by Western blotting .These molecules in HK-2 cells and apoptosis of HK-2 cells treated with LPS plus PI3K inhibitor or Akt inhibitor were also detected .RESULTS: Compared with sham group , the severe changes of renal histopathological injuries in CLP groups were observed , the levels of BUN and SCr in CLP groups were significantly increased .LC3 I/II, beclin-1 and phosphorylation of Akt gradually increased after CLP.After treatment with LPS, the expression of p-Akt (308) in the HK-2 cells gradually increased in a dose-and time-dependent fashion.The expression of beclin-1 and p-Akt (472) reached a peak at 8 h or 10 mg/L LPS treatment.Treat-ment with PI3K or Akt inhibitor down-regulated the expression of LC3 and promoted the apoptosis of HK-2 cells.CON-CLUSION:Autophagy in the kidney is induced by sepsis and acute kidney injury .PI3/Akt signaling pathway may be in-volved in this process .