Your browser doesn't support javascript.
loading
Show: 20 | 50 | 100
Results 1 - 20 de 66
Filter
1.
Am J Forensic Med Pathol ; 44(4): 340-344, 2023 Dec 01.
Article in English | MEDLINE | ID: mdl-37499163

ABSTRACT

ABSTRACT: Acute pancreatitis (AP) is inflammation of the pancreas, which may be due to a wide variety of etiologies that share a final common pathway of premature activation of pancreatic enzymes and resultant autodigestion of pancreatic parenchyma. Acute pancreatitis is easy to diagnose clinically, with the presence of at least 2 of the 3 criteria (upper abdominal pain, serum amylase or lipase level greater than 3 times the upper limit of normal, or characteristic findings on imaging studies) of the revised Atlanta classification. However, postmortem imaging examinations of pancreatitis are extremely rare, and very few successful cases have been reported. Here, we present a case report of a single patient who underwent autopsy and postmortem imaging. Postmortem computed tomography (PMCT) and postmortem magnetic resonance imaging (PMMRI) showed peripancreatic inflammation and acute peripancreatic fluid collection in the left anterior pararenal space, which is consistent with the examination by autopsy. The advantages of PMMRI in AP have also been demonstrated. Our study also confirmed the advantage of PMCT angiography in the diagnosis of AP. To the best of our knowledge, this is the first report of PMCT and PMMRI combined with postmortem pathology in the diagnosis of AP.


Subject(s)
Pancreatitis , Humans , Pancreatitis/diagnostic imaging , Autopsy , Acute Disease , Tomography, X-Ray Computed , Magnetic Resonance Imaging , Magnetic Resonance Spectroscopy , Inflammation
2.
Eur Radiol ; 33(12): 8936-8947, 2023 Dec.
Article in English | MEDLINE | ID: mdl-37368104

ABSTRACT

OBJECTIVES: To evaluate the performance of a radiomics nomogram developed based on gadolinium-ethoxybenzyl-diethylenetriamine penta-acetic acid (Gd-EOB-DTPA) MRI for preoperative prediction of microvascular invasion (MVI) of hepatocellular carcinoma (HCC), and to identify patients who may benefit from the postoperative adjuvant transarterial chemoembolization (PA-TACE). METHODS: A total of 260 eligible patients were retrospectively enrolled from three hospitals (140, 65, and 55 in training, standardized external, and non-standardized external validation cohort). Radiomics features and image characteristics were extracted from Gd-EOB-DTPA MRI image before hepatectomy for each lesion. In the training cohort, a radiomics nomogram which incorporated the radiomics signature and radiological predictors was developed. The performance of the radiomics nomogram was assessed with respect to discrimination calibration, and clinical usefulness with external validation. A score (m-score) was constructed to stratify the patients and explored whether it could accurately predict patient who benefit from PA-TACE. RESULTS: A radiomics nomogram integrated with the radiomics signature, max-D(iameter) > 5.1 cm, peritumoral low intensity (PTLI), incomplete capsule, and irregular morphology had favorable discrimination in the training cohort (AUC = 0.982), the standardized external validation cohort (AUC = 0.969), and the non-standardized external validation cohort (AUC = 0.981). Decision curve analysis confirmed the clinical usefulness of the novel radiomics nomogram. The log-rank test revealed that PA-TACE significantly decreased the early recurrence in the high-risk group (p = 0.006) with no significant effect in the low-risk group (p = 0.270). CONCLUSIONS: The novel radiomics nomogram combining the radiomics signature and clinical radiological features achieved preoperative non-invasive MVI risk prediction and patient benefit assessment after PA-TACE, which may help clinicians implement more appropriate interventions. CLINICAL RELEVANCE STATEMENT: Our radiomics nomogram could represent a novel biomarker to identify patients who may benefit from the postoperative adjuvant transarterial chemoembolization, which may help clinicians to implement more appropriate interventions and perform individualized precision therapies. KEY POINTS: • The novel radiomics nomogram developed based on Gd-EOB-DTPA MRI achieved preoperative non-invasive MVI risk prediction. • An m-score based on the radiomics nomogram could stratify HCC patients and further identify individuals who may benefit from the PA-TACE. • The radiomics nomogram could help clinicians to implement more appropriate interventions and perform individualized precision therapies.


Subject(s)
Carcinoma, Hepatocellular , Chemoembolization, Therapeutic , Liver Neoplasms , Humans , Carcinoma, Hepatocellular/diagnostic imaging , Carcinoma, Hepatocellular/therapy , Carcinoma, Hepatocellular/pathology , Liver Neoplasms/diagnostic imaging , Liver Neoplasms/therapy , Liver Neoplasms/blood supply , Nomograms , Retrospective Studies
3.
Mol Neurobiol ; 60(1): 116-132, 2023 Jan.
Article in English | MEDLINE | ID: mdl-36224321

ABSTRACT

Developmental sevoflurane exposure leads to neuronal cell death, and subsequent learning and memory cognitive defects. The underlyi\ng mechanism remains to be elucidated. Gasdermin D (GSDMD)-mediated pyroptosis is a form of inflammatory cell death and participates in a variety of neurodegenerative diseases. Several studies illustrated that dysregulation of mTOR activity is involved in pyroptotic cell death. The current study was designed to interrogate the role of GSDMD-mediated pyroptosis and mTOR activity in developmental sevoflurane exposure. We found that inhibition of GSDMD pore formation with Disulfiram (DSF) or Necrosulfonamide (NSA) significantly attenuated sevoflurane neurotoxicity in vitro. In addition, treatment with DSF or NSA also mitigated damage-associated molecular patterns (DAMPs) release and subsequent plasma membrane rupture (PMR) induced by sevoflurane challenge. Further investigation showed that the overactivation of mTOR signaling is involved in sevoflurane induced pyroptosis both in vivo and in vitro. Intriguingly, we found that the DAMPs release and subsequent PMR triggered by developmental sevoflurane priming were compromised by knocking down the expression of mTORC1 component Raptor, but not mTORC2 component Rictor. Moreover, sevoflurane induced pyroptosis could also be restored by suppressing mTOR activity or knocking down the expressions of Ras-related small GTPases RagA or RagC. Finally, administration of DSF or NSA dramatically improved the spatial and emotional cognitive disorders without alternation of locomotor activity. Taken together, these results indicate that mTORC1-dependent and GSDMD-mediated pyroptosis contributes to the developmental sevoflurane neurotoxicity. Characterizing these processes may provide experimental evidence for the possible prevention of developmental sevoflurane neurotoxicity.


Subject(s)
Gasdermins , Mechanistic Target of Rapamycin Complex 1 , Neurotoxicity Syndromes , Phosphate-Binding Proteins , Pyroptosis , Humans , Intracellular Signaling Peptides and Proteins/metabolism , Mechanistic Target of Rapamycin Complex 1/metabolism , Neurotoxicity Syndromes/metabolism , Phosphate-Binding Proteins/metabolism , Sevoflurane , Gasdermins/metabolism
4.
Chinese Medical Journal ; (24): 1513-1522, 2023.
Article in English | WPRIM (Western Pacific) | ID: wpr-980939

ABSTRACT

Asthma is characterized by chronic airway inflammation and airway hyper-responsiveness. However, the differences in pathophysiology and phenotypic symptomology make a diagnosis of "asthma" too broad hindering individualized treatment. Four asthmatic inflammatory phenotypes have been identified based on inflammatory cell profiles in sputum: eosinophilic, neutrophilic, paucigranulocytic, and mixed-granulocytic. Paucigranulocytic asthma may be one of the most common phenotypes in stable asthmatic patients, yet it remains much less studied than the other inflammatory phenotypes. Understanding of paucigranulocytic asthma in terms of phenotypic discrimination, distribution, stability, surrogate biomarkers, underlying pathophysiology, clinical characteristics, and current therapies is fragmented, which impedes clinical management of patients. This review brings together existing knowledge and ongoing research about asthma phenotypes, with a focus on paucigranulocytic asthma, in order to present a comprehensive picture that may clarify specific inflammatory phenotypes and thus improve clinical diagnoses and disease management.


Subject(s)
Humans , Asthma/drug therapy , Inflammation/diagnosis , Respiratory System , Phenotype , Biomarkers , Sputum , Eosinophils , Neutrophils
5.
Article in Chinese | WPRIM (Western Pacific) | ID: wpr-989220

ABSTRACT

Objective:To investigate the correlation between triglyceride-glucose (TyG) index and high on-treatment platelet reactivity (HTPR) during clopidogrel treatment in patients with ischemic stroke.Methods:Patients with ischemic stroke who received maintenance dose of clopidogrel (75 mg/d) in the Department of Neurology, Guangdong Provincial Hospital of Chinese Medicine from January 2017 to March 2021 were retrospectively included. The highest quartile (Q4) of the TyG index was defined as insulin resistance. Platelet reactivity was assessed by thromboelastogram and clopidogrel HTPR was defined as the clot strength induced by adenosine diphosphate (MA ADP) >47 mm. Multivariate regression model was used to analyze the independent correlation between TyG index and platelet reactivity. Results:A total of 83 patients were included. The TyG index showed a linear correlation with MA ADP. The patients were divided into 4 groups according to the quartile of TyG index. The incidence of clopidogrel HTPR increased significantly with the increase of the quartile of the TyG index ( Ptrend=0.017). Multivariate analysis showed that there was a significant independent correlation between insulin resistance and clopidogrel HTPR (odds ratio 4.597, 95% confidence interval 1.285-16.446; P=0.019). Conclusions:In patients with ischemic stroke treated with clopidogrel, the incidence of clopidogrel HTPR gradually increases with the increase of the quartile of the TyG index. The insulin resistance assessed by the TyG index is independently associated with clopidogrel HTPR.

6.
Article in English | WPRIM (Western Pacific) | ID: wpr-982278

ABSTRACT

OBJECTIVE@#To investigate the factors related to renal impairment in patients with diabetic kidney disease (DKD) from the perspective of integrated Chinese and Western medicine.@*METHODS@#Totally 492 patients with DKD in 8 Chinese hospitals from October 2017 to July 2019 were included. According to Kidney Disease Improving Global Outcomes (KDIGO) staging guidelines, patients were divided into a chronic kidney disease (CKD) 1-3 group and a CKD 4-5 group. Clinical data were collected, and logistic regression was used to analyze the factors related to different CKD stages in DKD patients.@*RESULTS@#Demographically, male was a factor related to increased CKD staging in patients with DKD (OR=3.100, P=0.002). In clinical characteristics, course of diabetes >60 months (OR=3.562, P=0.010), anemia (OR=4.176, P<0.001), hyperuricemia (OR=3.352, P<0.001), massive albuminuria (OR=4.058, P=0.002), atherosclerosis (OR=2.153, P=0.007) and blood deficiency syndrome (OR=1.945, P=0.020) were factors related to increased CKD staging in patients with DKD.@*CONCLUSIONS@#Male, course of diabetes >60 months, anemia, hyperuricemia, massive proteinuria, atherosclerosis, and blood deficiency syndrome might indicate more severe degree of renal function damage in patients with DKD. (Registration No. NCT03865914).


Subject(s)
Humans , Male , Diabetes Mellitus, Type 2 , Diabetic Nephropathies , Hyperuricemia , Kidney , Proteinuria , Renal Insufficiency, Chronic/complications
7.
Article in Chinese | WPRIM (Western Pacific) | ID: wpr-955812

ABSTRACT

Objective:To investigate the value of transperineal ultrasound assessment of levator hiatal antero-posterior (LHap) diameter changes in the diagnosis of pelvic floor dysfunction.Methods:The clinical data of 246 patients with suspected pelvic floor dysfunction who received treatment in Yuyao People's Hospital of Zhejiang Province from October 2020 to June 2021 were retrospectively analyzed. All these patients underwent clinical examination and modified Oxford score (MOS) evaluation. They were divided into observation group (low pelvic floor muscle contractility) and control group (normal pelvic floor muscle contractility) according to MOS. All patients were subjected to ultrasound examination and LHap diameter measurement under three conditions (at rest, pelvic floor muscle contraction, and maximal Valsalva maneuver). The percentage of shortening of LHap diameter (PDC%) and the percentage of elongation of LHap diameter (PIV%) were calculated. The differences of PDC% and PIV% were compared between the observation and control groups. The receiver operating curve was used to evaluate the values of PDC% and PIV% in the diagnosis of pelvic floor dysfunction.Results:Age, body mass index, the proportion of parturient women among included patients, and the proportion of patients who underwent vaginal delivery were significantly higher in the observation group than those in the control group (all P < 0.001). LHap diameters measured when patients were at rest, pelvic floor muscle contraction, and maximal Valsalva maneuver as well as PIV% in the observation group were (45.23 ± 5.74) mm], (37.71 ± 8.44) mm, (51.03 ± 7.41) mm and (11.42 ± 4.79)%, respectively, which were significantly higher than those in the control group [(41.78 ± 4.56) mm, (29.15 ± 4.64) mm, (44.28 ± 4.87) mm, (6.05 ± 2.13)%, t = -4.62, -8.29, -7.26, -9.36, all P < 0.001]. PDC% in the observation group was significantly lower than that in the control group [(17.52 ± 5.58)% vs. (32.19 ± 4.27)%, t = 20.39, P < 0.001]. MOS was positively correlated with PDC% ( r = 0.56, P < 0.001) and it was negatively correlated with PIV% ( r = -0.49, P < 0.001). Taking PDC% < 35.36% as the cut-off value, the area under the receiver operating curve was 0.85, the sensitivity, specificity and accuracy values were 66.40%, 97.38%, and 73.90%, respectively. Taking PIV% > 5.18% as the cut-off value, the area under the curve was 0.70, and the sensitivity, specificity and accuracy values were 71.45%, 57.90% and 68.15%, respectively. When PDC% and PIV% were used together, the area under the curve was 0.73 and the sensitivity, specificity and accuracy values were 84.57%, 55.05% and 77.32%, respectively. Conclusion:Transperineal ultrasound assessment of LHap diameter changes are of certain value in the prediction of pelvic floor dysfunction and can provide objective and quantitative data support for clinicians to diagnose pelvic floor dysfunction. This study is highly innovative and scientific.

8.
Article in Chinese | WPRIM (Western Pacific) | ID: wpr-927411

ABSTRACT

OBJECTIVE@#To observe the therapeutic effect of scalp-nape acupuncture for pharyngeal dysphagia of stroke at recovery stage on the basis of neuromuscular electrical stimulation (NMES) and rehabilitation training.@*METHODS@#A total of 42 patients with pharyngeal dysphagia of stroke at recovery stage were randomized into an observation group and a control group, 21 cases in each group. Conventional medical symptomatic treatment was given in both groups. NMES and rehabilitation training were adopted in the control group, 30 min for each one. On the basis of the treatment in the control group, scalp-nape acupuncture was given in the observation group, scalp acupuncture was applied at lower 2/5 of anterior and posterior oblique lines of parietal and temporal, nape acupuncture was applied at Fengchi (GB 20), Yiming (EX-HN 14), Gongxue (Extra), Zhiqiang (Extra), Tunyan (Extra), etc. The treatment was given once a day, 5 days a week for 3 weeks in both groups. Before and after treatment, the videofluoroscopic dysphagia scale (VDS) score, the Kubota water swallowing test grade, the functional oral intake scale (FOIS) grade and the swallowing quality of life (SWAL-QOL) score were observed in both groups.@*RESULTS@#After treatment, the VDS scores were decreased and the SWAL-QOL scores were increased compared before treatment (P<0.05), the Kubota water swallowing test grade and FOIS grade were improved compared before treatment (P<0.05) in both groups. The changes of VDS score and SWAL-QOL score, Kubota water swallowing test grade and FOIS grade in the observation group were superior to those in the control group (P<0.05).@*CONCLUSION@#Based on NMES and rehabilitation training, scalp-nape acupuncture can enhance the therapeutic effect on pharyngeal dysphagia of stroke at recovery stage, and improve the patients' swallowing function and quality of life.


Subject(s)
Humans , Acupuncture Points , Acupuncture Therapy , Deglutition , Deglutition Disorders/therapy , Quality of Life , Scalp , Stroke/therapy , Stroke Rehabilitation , Treatment Outcome , Water
9.
Chinese Journal of Pathophysiology ; (12): 1438-1446, 2021.
Article in Chinese | WPRIM (Western Pacific) | ID: wpr-909026

ABSTRACT

AIM:To investigate the therapeutic effect of oxymatrine on non-small-cell lung cancer(NSCLC) A549 cells and a xenograft mouse model,and to explore the underlying molecular mechanisms. METHODS:The effect of oxymatrine on the A549 cell viability was assessed by CCK-8 assay. After the A549 cells were treated with Toll-like re?ceptor 4(TLR4)stimulator lipopolysaccharide(LPS)and oxymatrine(5,10 and 15 mmol/L),the mRNA and protein ex?pression levels of TLR4 and myeloid differentiation factor 88(MyD88)were analyzed by RT-qPCR and Western blot,re?spectively. The migration and invasion abilities of the cells were measured by Transwell assay,and the mRNA and protein expression levels of matrix metalloproteinases-2(MMP-2),MMP-9 and vascular endothelial growth factor(VEGF)were also determined. A xenograft model in nude mice was utilized to evaluate the effect of oxymatrine on tumor growth. RE?SULTS:Oxymatrine inhibited the viability of A549 cells,decreased LPS-induced expression of TLR4,MyD88,MMP-2, MMP-9 and VEGF in A549 cells,and suppressed LPS-increased migration and invasion abilities of A549 cells. In the xe?nograft model,oxymatrine both reduced tumor growth and inhibited TLR4 expression in the tumor. CONCLUSION:Oxy?matrine exerts anti-tumor properties in NSCLC in vitro and in vivo by down-regulating the TLR4/MyD88 signaling pathway, suggesting that oxymatrine can be a potential therapeutic agent for NSCLC.

10.
Chinese Journal of Neurology ; (12): 1067-1070, 2021.
Article in Chinese | WPRIM (Western Pacific) | ID: wpr-911837

ABSTRACT

Essential palatal tremor is relatively rare in clinical practice, which manifests involuntary and rhythmic contraction of soft-palate along with auditory click. The cause is unknown and there is no specific treatment at present. This article reports a female patient with essential palatine tremor, who presented with involuntarily beating of soft palate, disappeared during sleep, had sensory tricks, and gradually developed mental and psychological problems such as anxiety disorders. After treatment with integrated traditional Chinese and Western medicine, the symptoms improved. The clinical features of the case were analyzed, relevant literature was reviewed, and the possible etiology and characteristics of the disease were explored, so as to provide reference for clinical diagnosis and treatment.

11.
Journal of Experimental Hematology ; (6): 1637-1644, 2021.
Article in Chinese | WPRIM (Western Pacific) | ID: wpr-922308

ABSTRACT

OBJECTIVE@#To analyze the clinical characteristics, diagnosis and prognostic factors of bone marrow necrosis (BMN) patients, aim to avoid misdiagnosis, missed diagnosis or delayed treatment.@*METHODS@#The clinical data of 51 BMN patients treated in the Affiliated Hospital of Xuzhou Medical University from January 2010 to December 2017 were retrospectively analyzed. The types of primary disease, etiology, clinical manifestations, laboratory tests, radiological findings, treatment outcomes and prognostic factors were summrized, and the reasons for misdiagnosis were analyzed.@*RESULTS@#Among 51 BMN patients, the hematologic tumor was detected out in 32 patients; solid tumors caused- BMN was detected out in 14 patients, benign lesions for 5 patients. The time of interval from the appearance of symptoms to the confirmation of BMN was 7 days to 6 months, with a median of 35 days. Misdiagnosis and missed diagnosis occurred in 25.5% of the BMN patients. Anemia was found in all of the 51 BMN patients, fever accounted for 58.8%, systemic bone pain for 52.9%, bleeding for 29.4%, lymphadenectasis for 37.3%, and hepatosplenomegaly for 19.6%. Leukoerythroblastic anemia accounted for 84.3%, bicytopenia for 51.0%, pancytopenia for 25.5%, and monocytopenia for 23.5%. The serologic test revealed no specific results. The first bone marrow aspiration were 38 patients and multi-site puncture were 7 patients. The diagnostic coincidence rate of bone marrow smear was 88.2%. Among 51 BMN patients, 41 patients received bone marrow biopsy, and the diagnostic coincidence rate of bone marrow biopsy was 75.6%. The abnormal signals were found in multiple vertebral bodies by spinal/pelvic MRI scan in 13 BMN patients; PET-CT scan revealed a diffuse pattern of low FDG uptake in the bone marrow in 16 patients, with a local increase in FDG uptake accompanied by bone marrow involvement. For 46 patients with BMN combined with malignancies, among which 35 patients died (76.1%) and the median survival time was 25 days. Among the 32 patients with hematologic tumors, early death occurred in 12 patients, BMN disappeared in 11 out of 20 patients received active chemotherapy for the primary disease, 9 patients died within 1 week to 3 months. Fourteen patients combined with bone marrow metastatic carcinoma died within 2 weeks to 3 months. Focal necrosis disappeared in 4 out of 5 BMN patients secondary to non-malignant diseases after symptomatic supportive treatment and still alived. Multiple logistic regression was performed to analyze factors affecting the prognosis of BMN patients, the result showed that the prognosis of BMN was closely related to the factors of primary disease (benign and malignant). The reasons for misdiagnosis and missed diagnosis were as follows: hidden onset of the primary disease, nonspecific symptoms, insufficient understanding and alertness of the physicians regarding the primary clinical characteristics and hematological abnormalities, and failure to receive multiple sites bone marrow punctures or bone marrow biopsies.@*CONCLUSION@#BMN usually occurs concomitantly to hematologic tumors and bone marrow metastases from solid tumors. Its prognosis is closely related to the nature and severity of the primary disease and its own severity. In the clinic, BMN should be suspected in patients with severe bone pain, fever, hepatosplenomegaly, hemocytopenia, lymphadenectasis and leukoerythroblastic anemia. Bone marrow puncture at multiple positions and bone marrow biopsy can compensate for each other in the diagnosis of BMN. The combined use of the two methods can improve the diagnostic coincidence rate of BMN, and the positive rate of the etiological diagnosis of BMN.


Subject(s)
Humans , Bone Marrow , Diagnostic Errors , Necrosis , Positron Emission Tomography Computed Tomography , Prognosis , Retrospective Studies
12.
Article in Chinese | WPRIM (Western Pacific) | ID: wpr-863841

ABSTRACT

Objective:To investigate the characteristics of ischemic myocardial contracture after asphyxia-induced cardiac arrest (CA).Methods:Asphyxia and ventricular fibrillation (VF) induced cardiac arrest model was established. Thirty-one male Wistar rats were randomly(random number) assigned to the sham, asphyxia and VF groups. Electrocardiogram and blood pressure during CA stage were recorded. Arterial blood was drawn for blood gas analysis at 0 min after CA. The length and width of the heart were measured at 0,2,4,6 and 8 min after CA. The myocardial ATP contents were measured at 0 and 8 min after CA.Results:Compared with the VF group, the time of CA induction was longer in the asphyxia group[ (237±20 ) s vs (3±1) s, P<0.05]. At 0 min after CA, severe hypoxemia, carbon dioxide retention and acidosis had occurred in the asphyxia group, while these indexes in the VF group were basically normal. The length and width of the heart in the asphyxia group decreased gradually after CA, the myocardial contracture reached the limit around 6 min after CA, while the cardiac morphology of the VF group did not change significantly during the observation period of 8 min after CA. Myocardial ATP content in the asphyxia group decreased significantly at 0 min after CA ( P<0.05), while the difference between the VF group and the sham group was not statistically significant ( P>0.05). Conclusions:Myocardial contracture occurrs in the early stage of asphyxia CA, which may be related to ATP consumption in the asphyxia stage.

13.
Chinese Medical Journal ; (24): 178-184, 2020.
Article in English | WPRIM (Western Pacific) | ID: wpr-877896

ABSTRACT

BACKGROUND@#Homozygous or compound heterozygous mutations in high temperature requirement serine peptidase A1 (HTRA1) gene are responsible for cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL). Recently, increasing evidence has shown that heterozygous HTRA1 mutations are also associated with cerebral small vessel disease (CSVD) with an autosomal dominant pattern of inheritance. This study was aimed to analyze the genetic and clinical characteristics of HTRA1-related autosomal dominant CSVD.@*METHODS@#We presented three new Chinese cases of familial CSVD with heterozygous HTRA1 mutations and reviewed all clinical case reports and articles on HTRA1-related autosomal dominant CSVD included in PUBMED by the end of March 1, 2020. CARASIL probands with genetic diagnosis reported to date were also reviewed. The genetic and clinical characteristics of HTRA1-related autosomal dominant CSVD were summarized and analyzed by comparing with CARASIL.@*RESULTS@#Forty-four HTRA1-related autosomal dominant CSVD probands and 22 CARASIL probands were included. Compared with typical CARASIL, HTRA1-related autosomal dominant probands has a higher proportion of vascular risk factors (P < 0.001), a later onset age (P < 0.001), and a relatively slower clinical progression. Alopecia and spondylosis can be observed, but less than those in the typical CARASIL. Thirty-five heterozygous mutations in HTRA1 were reported, most of which were missense mutations. Amino acids located close to amino acids 250-300 were most frequently affected, followed by these located near 150∼200. While amino acids 250∼300 were also the most frequently affected region in CARASIL patients, fewer mutations precede the 200th amino acids were detected, especially in the Kazal-type serine protease domain.@*CONCLUSIONS@#HTRA1-related autosomal dominant CSVD is present as a mild phenotype of CARASIL. The trend of regional concentration of mutation sites may be related to the concentration of key sites in these regions which are responsible for pathogenesis of HTRA1-related autosomal dominant CSVD.


Subject(s)
Humans , Cerebral Infarction , Cerebral Small Vessel Diseases/genetics , Heterozygote , High-Temperature Requirement A Serine Peptidase 1/genetics , Leukoencephalopathies/genetics , Mutation/genetics
14.
Article in Chinese | WPRIM (Western Pacific) | ID: wpr-828910

ABSTRACT

OBJECTIVE@#To investigate the clinical and immunological characteristics, treatment and prognosis of common variable immune deficiency (CVID) in adult patients.@*METHODS@#We retrospectively analyzed the clinical data of 13 adult patients hospitalized in our hospital for CVID diagnosed according to the criteria in International Consensus Document (2016), and analyzed their clinical manifestations, laboratory test results, imaging findings, pathological examinations and treatments.@*RESULTS@#The mean age of onset was 24.46±16.82 years in these patients, who had a mean age of 32.54±14.86 years at diagnosis with a median diagnostic delay of 5 years (IQR: 2-15 years). The main manifestation of the patients was repeated infections, including repeated respiratory tract infection (10 cases; 76.9%) and repeated diarrhea (3 cases; 23.1%). Three (23.1%) of the patients had autoimmune disease and 10 (76.9%) had chronic pulmonary disease. IgG, IgA and IgM were decreased in all the patients. The proportion of CD4+T cells decreased in 10 patients (76.9%), CD8+T cells increased in 11 patients (84.6%), and CD4/ CD8 decreased in 10 patients (76.9%). Complement C3 decreased in 58.3% (7/12) and C4 decreased in 33.3% (4/12) of the patients. Twelve patients (92.3%) were treated with intravenous infusion of gamma globulin with symptomatic treatments. One patient died due to massive gastrointestinal hemorrhage, and the other patients showed improve ments after the treatments and were discharged.@*CONCLUSIONS@#The clinical manifestations of CVID are diverse, and recurrent respiratory tract infection is the most common manifestation. Decreased IgG often accompanied by lowered IgA and IgM levels is a common finding in laboratory tests. The treatment of CVID currently relies on gamma globulin with symptomatic treatments for the complications.


Subject(s)
Adolescent , Adult , Child , Humans , Middle Aged , Young Adult , Autoimmune Diseases , Common Variable Immunodeficiency , Delayed Diagnosis , Immunoglobulins, Intravenous , Retrospective Studies
15.
Article in English | WPRIM (Western Pacific) | ID: wpr-828464

ABSTRACT

Objective Linguistic problem is common in Huntington's disease (HD) patients. It has been studied before in native speakers of alphabetic languages, such as English. As a hieroglyphic language, Chinese differs from alphabetic languages in terms of phonology, morphology, semantics and syntax. We aimed to investigate the linguistic characteristics of manifest HD in native speakers of Mandarin. Meanwhile, we expected to explore the linguistic differences associated with cortical or subcortical pathology.Methods Five HD patients and five Alzheimer's disease (AD) patients matched in age, gender, disease course and educational level were enrolled. All the participants were Mandarin native speakers. All finished history inquiry, physical examination, basic test, genetic test and neuropsychological assessment. Language evaluation was performed by Aphasia Battery of Chinese.Results HD patients had a mean disease course of 5.4±2.97 (range, 2-10) years. They showed a linguistic disorder close to transcortical motor aphasia. They exhibited prominent phonological impairment, as well as slight semantic and syntactic abnormality. Tonic errors were found in speech. Character structural errors and substitutions were detected in writing. In comparison, AD patients showed a more severe linguistic impairment, characterized by global aphasia with more semantic errors. Conclusion Mandarin-speaking HD patients have a transcortical motor aphasia-like disturbance with prominent phonological impairment, whereas AD patients have a more severe global aphasia with salient semantic impairment.

17.
Article in Chinese | WPRIM (Western Pacific) | ID: wpr-743271

ABSTRACT

Objective To investigate the neuroprotective mechanism of sevoflurane in rats resuscitated from cardiac arrest (CA).Methods A ventricular fibrillation-induced CA model was established.Forty Wistar rats were randomly divided into the sham group,sevoflurane group and control group.Apoptosis-related proteins were measured by Western blot at 24 h after restoration of spontaneous circulation (ROSC).The status of mitochondrial permeability transition pore (MPTP) were measured using a spectrophotometer,and the mitochondrial membrane potential (MMP) were measured with JC-1 fluorescent probe.At 72 h after ROSC,the apoptotic index of neurons in hippocampal CA1 region was counted by TUNEL staining.Results The protein expression of Bax,Bak,cleaved-caspase 9,cleavedcaspase 3 and cytosolic cytochrome c were lower in the sevoflurane group (all P<0.05),the protein expression of Bcl-2 was higher in the sevoflurane group compared with the control group (P<0.05).The sevoflurane group had a less opening status of MPTP and a higher MMP compared with the control group (all P<0.05).The sevoflurane group had less apoptotic neurons compared with the control group (P<0.05).Conclusion By up-regulating the expression of Bcl-2,down-regulating Bax and Bak,sevoflurane could reduce the apoptosis of neurons and decrease the opening of MPTP,eventually reduce cerebral injuries.

18.
Article in Chinese | WPRIM (Western Pacific) | ID: wpr-743214

ABSTRACT

Objective To investigate the characteristics of myocardial injury and its underlying mechanism in rats resuscitated from cardiac arrest. Methods Forty-two male Wistar rats were randomly(random number) assigned into the post-resuscitation (PR) 4 h, PR 24 h, PR 48 h, and sham groups. Ventricular fibrillation was induced by transcutaneous electrical epicardium stimulation and untreated for 6 min, followed by cardiopulmonary resuscitation (CPR). Myocardial function, glucose metabolism, myocardial ultrastructure, the status of mitochondrial permeability transition pore (MPTP) and mitochondrial membrane potential (MMP) were evaluated at different time points. Results Myocardial dysfunction was found at 4 h after restoration of spontaneous circulation (ROSC). The ejection fraction and cardiac output were decreased (all P<0.01), the diastole left ventricular posterior wall became thicker (P<0.01), and the end-diastolic volume was reduced (P<0.05). However, cardiac function was recovered almost completely at 48 h after ROSC. The PR 4 h group had a higher SUVmax, a more obvious decreased absorbance, and a lower MMP than the sham group (all P<0.01), but no statistically significant differences were noted between the PR 48 h group and the sham group (P>0.05). At 4 h and 24 h after ROSC, the mitochondria was swollen and the mitochondrial crista was sparse, but the myocardial ultrastructure was complete. Conclusions Post resuscitation myocardial dysfunction occurs after ROSC and the myocardial dysfunction is completely reversible at 48 h after ROSC, which may be related to the reversibility of myocardial injury and the gradual recovery of mitochondrial structure and function.

19.
Article in Chinese | WPRIM (Western Pacific) | ID: wpr-851461

ABSTRACT

Iridoid glycosides are widely distributed in Chinese materia medica (CMM) with various biological activities such as anti-inflammation. They are also used as quality control constituents in some Chinese medicines. Iridoid glycosides are usually divided into nine-carbon skeleton iridoid glycoside type, ten-carbon skeleton iridoid glycoside type, and secoiridoid glycoside type. In this paper, 15 representative iridoid glycosides from three types which are received extensive attention (including geniposide, catalpol, gentiopicroside, etc) have been selected. Their anti-inflammatory effects and possible related mechanisms are summarized to find out the acting feature of different types. Through comparing the structures and function characteristics, it was concluded that the anti-inflammatory effects of iridoid glycosides were mostly related to NF-κB pathway and MAPK pathway. They have obvious inhibitory effects on TNF-α, IL-6, and IL-1β inflammatory factors, some of which could play a role by reducing the expression of iNOS and COX-2 in NLRP3, Nrf2/HO-1, PI3K, and other pathways. From the structure-activity relationship, the double bond on the cyclopentane, the C-11 substituent and the bond formation after ring opening in iridoid glycosides all have important effects on its anti-inflammatory activities.

20.
Article in Chinese | WPRIM (Western Pacific) | ID: wpr-816507

ABSTRACT

The recurrence and metastasis rate of hepatocellular carcinoma(HCC) is high after operation,and more than 50% of HCC patients will eventually receive systemic treatment. There is a lack of systemic treatment for advanced liver cancer,so that Sorafenib is the only first-line therapeutic drug in the past ten years. Recently,positive results have been obtained in the III phase clinical trials of lenvatinib,regorafenib,cabozantinib and Ramucirumab,and anticancer effect of the immunotherapy of liver cancer shows gratifying,but there are still some shortcomings,such as low objective response rate and lack of effective clinical biomarkers. The antitumor effect of immunotherapy-based combined therapy is more satisfactory than that of single drug without more serious side effects in I/II phase clinical trials,which means immunotherapy-based combined therapy should be the future treatment strategy.

SELECTION OF CITATIONS
SEARCH DETAIL
...