Clinical feature difference between juvenile amyotrophic lateral sclerosis with SPTLC1 and FUS mutations / 中华医学杂志(英文版)

BACKGROUND@#Juvenile amyotrophic lateral sclerosis (JALS) is an uncommon form of amyotrophic lateral sclerosis whose age at onset (AAO) is defined as prior to 25 years. FUS mutations are the most common cause of JALS. SPTLC1 was recently identified as a disease-causative gene for JALS, which has rarely been reported in Asian populations. Little is known regarding the difference in clinical features between JALS patients carrying FUS and SPTLC1 mutations. This study aimed to screen mutations in JALS patients and to compare the clinical features between JALS patients with FUS and SPTLC1 mutations.@*METHODS@#Sixteen JALS patients were enrolled, including three newly recruited patients between July 2015 and August 2018 from the Second Affiliated Hospital, Zhejiang University School of Medicine. Mutations were screened by whole-exome sequencing. In addition, clinical features such as AAO, onset site and disease duration were extracted and compared between JALS patients carrying FUS and SPTLC1 mutations through a literature review.@*RESULTS@#A novel and de novo SPTLC1 mutation (c.58G>A, p.A20T) was identified in a sporadic patient. Among 16 JALS patients, 7/16 carried FUS mutations and 5/16 carried respective SPTLC1 , SETX , NEFH , DCTN1 , and TARDBP mutations. Compared with FUS mutation patients, those with SPTLC1 mutations had an earlier AAO (7.9 ± 4.6 years vs. 18.1 ± 3.9 years, P  < 0.01), much longer disease duration (512.0 [416.7-607.3] months vs. 33.4 [21.6-45.1] months, P  < 0.01), and no onset of bulbar.@*CONCLUSION@#Our findings expand the genetic and phenotypic spectrum of JALS and help to better understand the genotype-phenotype correlation of JALS.

The protective effect of lentinan regulating autophagy on HUVEC injury induced by high glucose and its mechanism / 中国药理学通报

Aim To study the effect of lentinan ( LNT) on the injury of human umbilical vein endothelial cells (HUVECs) induced by high concentration of glucose ( HG) and its mechanism so as to provide a new theo¬retical basis for the treatment of diabetic angiopathy.Methods After screening the optimal concentration of HG-induced HUVEC injury, different concentrations of LNT were given and then HUVEC cell viability, reac¬tive oxygen species ( ROS ) , superoxide dismutase (SOD) ,and malondialdehyde (MDA) levels were de¬tected.Autophagy level in HUVECs was determined by MDC staining.Beclin-1 level was detected by PCR.The expression of LC3, inducible nitric oxide synthase (iNOS) and the phosphorylation level of p38 MAPK were detected by Western blot.Results 120 mmol • L"1 HG could cause moderate HUVEC injury.LNT could improve the declining HUVEC viability induced by HG, alleviate the increasing ROS,upgrade the level of SOD level, downgrade the level of M DA, raise the autophagy level in HUVECs,and decrease the expres-sion of iNOS and p38 MAPK phosphorylated protein in HUVECs.Conclusions LNT can improve HG-in- duced HUVEC injury,and the mechanism is related to regulating ROS/p38 MAPK pathway to enhance auto¬phagy levels and improve intracellular oxidative stress.

Application of extracorporeal membrane oxygenation in the treatment of persistent pulmonary hypertension of the newborn / 中国当代儿科杂志

OBJECTIVES@#To study the clinical value of extracorporeal membrane oxygenation (ECMO) in the treatment of persistent pulmonary hypertension of the newborn (PPHN).@*METHODS@#A retrospective analysis was performed on the medical data of 11 neonates with PPHN who were treated with ECMO in the Neonatal Intensive Care Unit of Zhongshan People's Hospital from January 2015 to December 2021, involving the neonates' general information, clinical diagnosis, laboratory results, duration of ECMO treatment, complications during ECMO treatment, length of hospital stay, and outcome.@*RESULTS@#Of the 11 neonates, 10 (91%) had successful weaning from ECMO, and 8 (73%) survived. For the 11 neonates, the mean duration of ECMO treatment was (81±50) hours (range: 26 to 185 hours), the mean duration of ventilator use was (198±105) hours (range: 57 to 392 hours), and the mean length of hospital stay was (22±15) days (range: 2 to 49 days). The oxygenation index and blood lactate level were significantly improved after 24 hours of ECMO treatment among the 11 neonates (P<0.05). Ten neonates had significantly reduced pulmonary artery pressure after 24 hours of ECMO treatment (P<0.05). One neonate had a progressive increase in the pulmonary artery pressure during EMCO treatment, succumbing to death. This neonate was diagnosed with alveolar capillary dysplasia based on the histopathological findings of the lung tissue and whole-exome sequencing results. Among the 11 children, 5 had intracranial hemorrhage, 1 had disseminated intravascular coagulation, 1 had gastric hemorrhage, 2 had pulmonary hemorrhage, 1 had renal insufficiency, and 3 had bleeding at the puncture site during ECMO treatment.@*CONCLUSIONS@#ECMO is effective for the treatment of PPHN, however, the high incidence of complications of ECMO treatment suggests that it is important to carefully assess the indications and timing of ECMO treatment and improve the management of ECMO, which can improve the weaning rate and survival rate.

Simultaneous determination of five ginkgolic acids in ginkgo folium by HPLC / 中国药学杂志

OBJECTIVE: To develop an HPLC method for simultaneous determination of ginkgolic acids(C13:0, C15:1, C17:2, C15:0, C17:1) in Ginkgo Folium. METHODS: The HPLC analysis was carried out on Phenomenex Luna C18(4.6 mm × 250 mm, 5 μm) column with acetonitrile-0.1% phosphoric acid (90:10) as mobile phase eluted at the flow rate of 1.0 mL · min-1. The detective wavelength was set at 310 nm, and the column temperature was set at 30℃. RESULTS: The calibration curve was linear within the range of 1.47-29.40 μg · mL-1 for C13:0, 6.05 -121.00 μg · mL-1 for C15:1 and 8.00 - 160.00 μg · mL-1 for C17:1, respectively. The average recoveries for the three marker compounds are 98.6% - 100.1%. CONCLUSION: This method is simple, accurate, and practical for the quality control of Ginkgo Folium. There are some differences in the contents of the five marker compounds from different producing areas and different collection periods.

Chemical constituents from Incarvillea delavayi / 中草药

Objective: To investigate the chemical constituents from the whole plant of Incarvillea delavayi. Methods: The whole plant of I. delavayi was extracted by 90% ethanol. Various chromatography methods were employed to separate the chemical constituents, and the structures were identified by comprehensive spectroscopic analysis. Results: Fourteen compounds, including cyclohexanethanoids, monoterpene alkaloids, and triterpenoids, were obtained from the 90% ethanol extract of I. delavayi. Their structures were identified as 5-hydroxyethyl-6-hydroxyl-3-methyl benzofuran (1), cleroindicin B (2), 3,4,5-trimethoxyl benzoic acid ethyl ester (3), 3,4,5-trimethoxyl benzoic acid methyl ester (4), 6-hydroxyl dihydrobenzofuran (5), 2-(4'-ethoxyphenyl)-ethanol (6), tecomine (7), (+)-epidihydrotecomanine (8), 5-hydroxy skytanthine (9), δ-skytanthine (10), isoincarvilline (11), mairine B (12), coelobillardierine (13), and 3β-acetyl oleanolic acid (14). Conclusion: Compound 1 is identified as new compound and named as delavayol A, while compounds 3-6, 9-11, and 13 are isolated from the titled plant for the first time.

Clinical characteristics of 42 cases of spontaneous intracranial hypotension with cerebrospinal leakage / 浙江大学学报·医学版

<p><b>OBJECTIVE</b>To review the clinical characteristics of spontaneous intracranial hypotension (SIH) with cerebrospinal fluid (CSF) leakage.</p><p><b>METHODS</b>Clinical data of 42 SIH patients with cerebrospinal leakage, whose diagnosis met the criteria of the International Headache Classification, were retrospectively reviewed. The patients were divided into short (n=27) and long (n=15) course groups. The clinical data and imaging features were compared between two groups.</p><p><b>RESULTS</b>Thirty-nine patients (92.9%) had orthostatic headache. Compared with the short course group, the frequency of headache were significantly lower in patients with long disease duration (80% vs 100%, P =0.040); the ratio of high CSF opening pressure (>=60.0 mm H2O), the average CSF opening pressure, and the frequencies of subdural hematoma were higher in long course group than those in short course group [60.0% vs 20.8%, (64.7±42.1) vs (40.0±33.8)mm H2O, and 50.0% vs 11.6%; P=0.019, 0.038 and 0.018, respectively]. Forty-two patients underwent CT myelography;definite focal CSF leakage sites were found in all patients and multiple sites of CSF leakage in 38 patients.</p><p><b>CONCLUSION</b>All SIH do not necessarily show the typical clinical manifestations, and cranial MRI and CT myelography are helpful in the diagnosis. Because of higher risk of subdural hemorrhage, patients with long disease duration require active intervention.</p>

Expression of Six1 and Six4 in esophageal squamous cell carcinoma and their correlation with clinical prognosis / 中华病理学杂志

<p><b>OBJECTIVE</b>Six1 and Six4 are expressed in several tumors, and associated with tumor progress and poor prognosis. The aim of this study was to investigate the expression of Six1 and Six4 in esophageal squamous cell carcinoma (ESCC), and to evaluate their correlation with the clinicopathological factors and prognosis.</p><p><b>METHODS</b>Tissue microarray technology and immunohistochemical method (EnVision) were used to detect the expression of Six1 and Six4 in the tumor tissues and corresponding adjacent normal epithelium of esophagus from 292 ESCC patients.</p><p><b>RESULTS</b>Among the 292 ESCC patients, the positive rates of Six1 and Six4 protein expression in tumor tissues were 72.9% (213/292) and 56.2% (164/292), respectively, significantly higher than the expression rate of 33.2% (97/292) and 32.5% (95/292) in adjacent normal epithelium of esophagus (P < 0.05). Chi square test showed that the expression of Six1 protein was related to tumor size, depth of tumor invasion and patient survival status; higher Six4 protein expression level was related to poor differentiation and increased depth of invasion. Single factor Log-rank analysis revealed that gender, TNM stage, Six1 protein expression level were related to the overall survival of ESCC patients (P < 0.05), while the five-year survival rate was significantly higher in the Six1-negative group than the Six1-positive group [51.9% (41/79) vs. 43.7% (93/213)]. Multi-factor Cox proportional risk model analysis showed that TNM stage and positive expression of Six1 were independent prognostic factors for ESCC patients (P < 0.05).</p><p><b>CONCLUSIONS</b>Six1 and Six4 are highly expressed in ESCC. Their expression levels are closely related to the progress and prognosis of ESCC. Over-expression of Six1 is related to poor prognosis in ESCC patients. Thus, Six1 could be used as an important prognostic indicator for ESCC patients.</p>

The value of pro-adrenomedullin for predicting the severity and outcome of community-acquired pneumonia / 中国综合临床

Objective To investigate the value of pro-adrenomedullin (pro-ADM) levels for severity as-sessment of community-acquired pneumonia (CAP).Methods 214 CAP patients who were admitted to the emer-gency department were prospectively studied.The levels of plasma pro-ADM were determined using a new sandwich immunoassay.At the same time, procalcitonin, C-reactive protein, interleukin-6 levels, leukocyte count, clinical varia-bles and the pneumonia severity index (PSI) were measured.Results Pro-ADM levels,in contrast to procalcitonin,interleukin-6 levels, increased with increasing of the severity of CAP, which was classified according to the PSI score (P<0.05).In patients who died during follow-up, pro-ADM levels on admission were significantly higher than that in survivors [2.08 vs.4.94 μg/L,Z=-4.081 ,P<0.001].In a receiver operating characteristic (ROC) analysis for survival, the area under the ROC curve (AUC) for pro-ADM was 0.79, which was significantly higher than that for procalcitonin(0.72), C-reactive protein (0.58), interleukin-6 (0.64 ), and total leukocyte count (0.50) and sim-ilar to the AUC of the PSI (0.75).Conclusion Pro-ADM is a useful biomarker for the risk stratification of CAP patients.

Researching the character and stenosis of coronary calcified plaques by using 16-slice spiral CT / 中国医学科学院学报

<p><b>OBJECTIVE</b>To explore the characters of coronary calcified plaques by using 16-slice spiral CT and determine their stenosis degree according to the results of catheter coronary angiography.</p><p><b>METHODS</b>Twenty patients who had received 16-slice spiral CT coronary angiography and conventional coronary angiography (CAG) were found to be with calcified plaques. The characters of these plaques, including the diameter of calcified plaques and lumen diameter of the exact artery segment, were retrospectively analyzed. The stenosis degree of the corresponding segment was judged in accordance with the results of CAG.</p><p><b>RESULTS</b>Totally 84 calcified plaques were observed in 16-slice spiral CT images in these 20 patients. Among them there were 16 small nodules (diameter: < 0.15 cm), 56 purely calcified plaques (diameter: > or = 0. 15 cm), and 12 complex plaques with calcify component. There was no obvious stenosis in artery segments with little calcified nodules. The stenosis degree of most segments with purely calcified plaques (75%) was less than 50%. The stenosis degree had no significant correlation with the size of plaques (P > 0.05). However, the stenosis degree of complex plaques had much closer relationship with the characters of mixed plaques.</p><p><b>CONCLUSIONS</b>Most coronary segments with calcified plaques have slight stenosis. Their stenosis degree is not related with the size of plaques. The stenosis degree of complex plaques has a closer relationship with the characters of mixed plaques.</p>

Functional MRI of human brain in musicians and non-musicians / 浙江大学学报·医学版

<p><b>OBJECTIVE</b>To explore the differences in brain activation between musicians and non-musicians by use of functional MRI.</p><p><b>METHODS</b>Twelve right-handed musicians and twelve right-handed non-musicians were recruited in the study. During a listening task, they were scanned on the Sigma 1.5T scanner (GE) while they were passively listening to several segments of music of "the Butterfly Love" and the white noise with same physical energy.</p><p><b>RESULT</b>Both musicians and non-musicians demonstrated bilateral transverse gyrus weak activated while listening to the white noise. But when listening to music, they showed bilateral temporal areas strongly activated including superior temporal gyrus, transverse gyrus and some middle temporal areas. Moreover, musicians showed relative left dominance (10/12), whereas non-musicians demonstrated right dominance(11/12). Furthermore,besides bilateral temporal areas, more and stronger activated areas were found in musicians such as cuneus, precuneus,medial frontal and left middle occipital gyrus.</p><p><b>CONCLUSION</b>There are different neuro-patterns between musicians and non-musicians.</p>