Intracranial atherosclerotic stenosis (ICAS) is an important cause of ischemic stroke and transient ischemic attack. For patients with atherosclerotic stroke, it is recommended to use high-intensity statins, cholesterol absorption inhibitors and proprotein convertase subtilisin/kexin type 9 (PCSK9) inhibitors for lipid-lowering treatment. This article reviews the current roles of statins and PCSK9 inhibitors in lowering lipids, reducing ischemic events, reducing the degree of vascular stenosis and the effect on atherosclerotic plaque in patients with symptomatic ICAS.

OBJECTIVE: To report and analyze a case of Juvenile neuronal ceroid lipofuscinosis (NCL) due to compound heterozygous variants of PPT1 gene. METHODS: A child who was admitted to the Department of Neurology of West China Hospital of Sichuan University in April 2021 due to "intellectual decline and behavioral abnormalities for more than 5 years and movement disorder for more than 1 year" was selected as the study subject. Clinical data of the child was collected. Trio-whole exome sequencing was carried out for the child and his parents, and clinical follow-up was conducted. This study has been approved by the Medical Ethics Committee of West China Hospital of Sichuan University (Ethic No. 2024-2286). RESULTS: The patient, a 13-year-old male, showed progressive mental decline, behavioral abnormalities, and movement disorders from the age of 8. Electroencephalogram showed abnormal background activities, and magnetic resonance imaging showed brain atrophy. Trio-whole exome sequencing revealed that he had harbored a paternally derived heterozygous c.272(exon3)A>C variant and a maternally derived heterozygous c.176(exon2)A>G variant of the PPT1 gene. His presentation was in keeping with previously reported juvenile NCL due to variants of the PPT1 gene. CONCLUSION The c.272(exon3)A>C and c.176(exon2)A>G compound heterozygous variants of the PPT1 gene probably underlay the Juvenile NCL in this child. Discovery of the c.176(exon2)A>G variant has expanded the mutational spectrum of this disease.
Humans ; Neuronal Ceroid-Lipofuscinoses/genetics* ; Male ; Adolescent ; Heterozygote ; Thiolester Hydrolases/genetics* ; Membrane Proteins/genetics* ; Exome Sequencing ; Mutation

objective:To report and analyze a case of Juvenile neuronal ceroid lipofuscinosis (NCL) due to compound heterozygous variants of PPT1 gene. Methods:A child who was admitted to the Department of Neurology of West China Hospital of Sichuan University in April 2021 due to " intellectual decline and behavioral abnormalities for more than 5 years and movement disorder for more than 1 year" was selected as the study subject. Clinical data of the child was collected. Trio-whole exome sequencing was carried out for the child and his parents, and clinical follow-up was conducted. This study has been approved by the Medical Ethics Committee of West China Hospital of Sichuan University (Ethic No. 2024-2286).Results:The patient, a 13-year-old male, showed progressive mental decline, behavioral abnormalities, and movement disorders from the age of 8. Electroencephalogram showed abnormal background activities, and magnetic resonance imaging showed brain atrophy. Trio-whole exome sequencing revealed that he had harbored a paternally derived heterozygous c. 272(exon3)A>C variant and a maternally derived heterozygous c. 176(exon2)A>G variant of the PPT1 gene. His presentation was in keeping with previously reported juvenile NCL due to variants of the PPT1 gene. Conclusion:The c. 272(exon3)A>C and c. 176(exon2)A>G compound heterozygous variants of the PPT1 gene probably underlay the Juvenile NCL in this child. Discovery of the c. 176(exon2)A>G variant has expanded the mutational spectrum of this disease.

objective:To report and analyze a case of Juvenile neuronal ceroid lipofuscinosis (NCL) due to compound heterozygous variants of PPT1 gene. Methods:A child who was admitted to the Department of Neurology of West China Hospital of Sichuan University in April 2021 due to " intellectual decline and behavioral abnormalities for more than 5 years and movement disorder for more than 1 year" was selected as the study subject. Clinical data of the child was collected. Trio-whole exome sequencing was carried out for the child and his parents, and clinical follow-up was conducted. This study has been approved by the Medical Ethics Committee of West China Hospital of Sichuan University (Ethic No. 2024-2286).Results:The patient, a 13-year-old male, showed progressive mental decline, behavioral abnormalities, and movement disorders from the age of 8. Electroencephalogram showed abnormal background activities, and magnetic resonance imaging showed brain atrophy. Trio-whole exome sequencing revealed that he had harbored a paternally derived heterozygous c. 272(exon3)A>C variant and a maternally derived heterozygous c. 176(exon2)A>G variant of the PPT1 gene. His presentation was in keeping with previously reported juvenile NCL due to variants of the PPT1 gene. Conclusion:The c. 272(exon3)A>C and c. 176(exon2)A>G compound heterozygous variants of the PPT1 gene probably underlay the Juvenile NCL in this child. Discovery of the c. 176(exon2)A>G variant has expanded the mutational spectrum of this disease.

Objective:The investigation and research on the application status of Hepatic Venous Pressure Gradient (HVPG) is very important to understand the real situation and future development of this technology in China.Methods:This study comprehensively investigated the basic situation of HVPG technology in China, including hospital distribution, hospital level, annual number of cases, catheters used, average cost, indications and existing problems.Results:According to the survey, there were 70 hospitals in China carrying out HVPG technology in 2021, distributed in 28 provinces (autonomous regions and municipalities directly under the central Government). A total of 4 398 cases of HVPG were performed in all the surveyed hospitals in 2021, of which 2 291 cases (52.1%) were tested by HVPG alone. The average cost of HVPG detection was (5 617.2±2 079.4) yuan. 96.3% of the teams completed HVPG detection with balloon method, and most of the teams used thrombectomy balloon catheter (80.3%).Conclusion:Through this investigation, the status of domestic clinical application of HVPG has been clarified, and it has been confirmed that many domestic medical institutions have mastered this technology, but it still needs to continue to promote and popularize HVPG technology in the future.

Objective:To retrieve and analyze the relevant guidelines for the second and third stages of normal delivery, and summarize the evidence of high-quality guidelines so as to provide references for the formulation of clinical practice programs.Methods:We took Johns Hopkins evidence-based nursing practice model as theoretical guidance and set up an evidence-based team.We systematically searched major guideline publication websites, electronic resource databases, related academic groups and guideline networks at home and abroad, evaluated guidelines and summarized the best evidence, and the search time limit was up to June 1, 2019. The literature quality evaluation and evidence extraction were carried out independently by four researchers with evidence-based training.Results:This study included two guidelines, summarizing the 20 best evidences in 9 aspects of humanistic support, delivery companion, delivery position, fetal monitoring, delayed exertion, perineal protection, fundus compression, prevention of postpartum hemorrhage, and delayed umbilical cord clamping.Conclusions:Based on the existing evidence, it integrates the best evidence of nursing measures for the second and third stages of normal delivery. It is recommended that maternal and child institutions promote the transformation of the best evidence based on their actual conditions.

According 1o the genome sequences of α.β,e,ι toxins of Clostridium perfringens in GenBank,four pairs of primers targeting α,β,ε,ι toxin genes were designed.After the multiplex PCR reaction condition was optimized,the multiplex PCR for identification and toxintyping of C.perfringens strains was developed.The specificity test showed that the expected fragments of C.perfringens reference strains including A.B,C,D,E five toxin types were amplified successfully from genomic DNA of C.perfringens,respectively.However,a band could not be amplified from Clostidrium novyi and Clostridium septicum as negative control groups.The sensitivity test showed that the limit detection of multiplex PCR was 9.0,17.8,12.2,13.8,18.5 pg DNA of A,B,C,D,E five toxin types C.perfringens,respectively.Repetitive testing showed that the established method had a good repeatability.Nine type A strains of and 1 type C strains of C.Perfringens from 21 clinical samples of dead goat were detected by the multiplex PCR developed in this study.This study establishes the multiple PCR method which not only can detect C.perfringens rapidly but also can identify five toxin types of C.perfringens.

Objective The aim of the study is to evaluate clinical efficacy and safety of azatreonam or ceftazidime on treatment of lower respiratory tract infection .Methods Four English databases (MEDLINE、EMBASE、Pubmed、Cochrane li‐brary) and three Chinese databases (CNKI、VIP、WANFANG) were searched .Meta‐analysis was performed using Review Manager 5 .2 .Results The Meta‐analysis revealed azatreonam was superior to ceftazidime in total efficiency (RR=1 .15 ,95%CI is 1 .09‐1 .21) .No significant differences are seen between azatreonam and ceftazidime (RR=1 .03 ,95% CI is 0 .98‐1 .09) on the bacterial eradication rates or the incidence of adverse reactions (RR=0 .66 ,95% CI is 0 .39‐1 .12) .Conclusion Azatreonam is more effective than ceftazidime on the treatment of lower respiratory tract infection in the clinical practice .

BACKGROUND:Diffusion tensor imaging aad fiber tractography(DT-FT)is the only method to identify cerebral white matter fiber organization in vivo.OBJECTIVE:To observe the changes in brain areas with language function and the fiber stucture in patients with Broca aphasia.DESIGN,TIME AND SETTING:Comparative observation was performed at First Hospital of Kunming Medical College and Tiantan Hospital of Capital Medical University between November 2003 and February 2005.PARTICIPANTS:Thirty patients(9 females,21 males,aged 17-63 years)with Broca aphasia of different degree were selected.They were diagnosed by a set of Chinese aphasia examinations of Research Laboratory of Neuropsychology,First Hospital of Beijing Medical University,following by further classification according to the subitems.METHODS:3T super-high field magnetic resonance scanner was used for the data collection and processing of the entire brain.Brodmann areas 45,44,areas 22 and 39(Wernicke area),and the corresponding brain areas in the right hemisphere are selected as areas with language function.The primary commissure,commissural fibers(arcuate fasciculus,internal capsule,external capsule)that are closely correlated with language function were regarded as region of interest of fiber tracking.The neural fiber tracking was conducted.MAIN OUTCOME MEASUIURES:The tracking and distribution of neural fiber tracts,and its correlation with other brain areas,and changes under pathological conditions.All data were compared with normal brain.RESULTS:Thirty patients with Broca aphasia were included in final analysis.The mean fractional anisotropy of fiber tracts in left Brodmann areas 45 and 44 was significantly lower than that in normal Brodmann areas(t=-2.683 65,-5.300 55,P＜0.05).The inferior fiber tracts in Broca area showed interruption or displacement,loosely connected even separate from the frontal arcuate fasciculus.The fibers of precentral gyrus and medial frontal lobe were decreased.The separation of arcuate fasciculus from Broca area caused by the integrity disruption and displacement of fiber tracts of arcuate fasciculus was the main alteration of arcuate fasciculus in Broca aphasia.The number of fiber tracts of left arcuate fasciculus and the mean fractional anisotropy in Broca aphasia were significantly less than normal people(P＜0.05).CONCLUSION:The lesions of cerebral cortex and its fiber pathway in Broca area can result in Broca aphasia.