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1.
Acta Pharmaceutica Sinica ; (12): 574-580, 2024.
Article in Chinese | WPRIM | ID: wpr-1016626

ABSTRACT

Parkinson's disease (PD) is a chronic neurodegenerative disease. At present, levodopa and other drugs are mainly used for dopamine supplementation therapy. However, the absorption of levodopa in the gastrointestinal tract is unstable and its half-life is short, and long-term use of levodopa will lead to the end-of-dose deterioration, dyskinesia, the "ON-OFF" phenomenon and other symptoms. Therefore, new preparations need to be developed to improve drug efficacy, reduce side effects or improve compliance of patients. Based on the above clinical needs, this review briefly introduced the preparation modification strategies for the treatment of PD through case analysis, in order to provide references for the research and development of related preparations.

2.
Acta Anatomica Sinica ; (6): 17-24, 2024.
Article in Chinese | WPRIM | ID: wpr-1015146

ABSTRACT

Objective The volume and cortical thickness of gray matter in patients with multiple sclerosis (MS) and neuromyelitis optica (NMO) were compared and analyzed by voxel⁃based morphometry (VBM) and surface⁃based morphometry (SBM), and the differences in the structural changes of gray matter in the two diseases were discussed. Methods A total of 21 MS patients, 16 NMO patients and 19 healthy controls were scanned by routine MRI sequence. The data were processed and analyzed by VBM and SBM method based on the statistical parameter tool SPM12 of Matlab2014a platform and the small tool CAT12 under SPM12. Results Compared with the normal control group (NC), after Gaussian random field (GRF) correction, the gray matter volume in MS group was significantly reduced in left superior occipital, left cuneus, left calcarine, left precuneus, left postcentral, left central paracentral lobule, right cuneus, left middle frontal, left superior frontal and left superior medial frontal (P<0. 05). After family wise error (FWE) correction, the thickness of left paracentral, left superiorfrontal and left precuneus cortex in MS group was significantly reduced (P<0. 05). Compared with the NC group, after GRF correction, the gray matter volume in the left postcentral, left precentral, left inferior parietal, right precentral and right middle frontal in NMO group was significantly increased (P<0. 05). In NMO group, the volume of gray matter in left middle occipital, left superior occipital, left inferior temporal, right middle occipital, left superior frontal orbital, right middle cingulum, left anterior cingulum, right angular and left precuneus were significantly decreased (P<0. 05). Brain regions showed no significant differences in cortical thickness between NMO groups after FWE correction. Compared with the NMO group, after GRF correction, the gray matter volume in the right fusiform and right middle frontal in MS group was increased significantly(P<0. 05). In MS group, the gray matter volume of left thalamus, left pallidum, left precentral, left middle frontal, left middle temporal, right pallidum, left inferior parietal and right superior parietal were significantly decreased (P<0. 05). After FWE correction, the thickness of left inferiorparietal, left superiorparietal, left supramarginal, left paracentral, left superiorfrontal and left precuneus cortex in MS group decreased significantly (P<0. 05). Conclusion The atrophy of brain gray matter structure in MS patients mainly involves the left parietal region, while NMO patients are not sensitive to the change of brain gray matter structure. The significant difference in brain gray matter volume between MS patients and NMO patients is mainly located in the deep cerebral nucleus mass.

3.
Chinese Journal of Rehabilitation Theory and Practice ; (12): 74-80, 2024.
Article in Chinese | WPRIM | ID: wpr-1013287

ABSTRACT

ObjectiveTo investigate the effect of modified Baduanjin exercise, as an rehabilitation exercise, on cardiopulmonary function, motor function and activities of daily living in patients with stroke. MethodsFrom January to September, 2023, 42 stroke patients in the Nanjing Qixia District Hospital were randomly divided into control group (n = 21) and experimental group (n = 21). The control group received routine rehabilitation, and the experimental group received modified Baduanjin exercise in addition, for four weeks. They were assessed with peak oxygen uptake (VO2peak), anaerobic threshold (AT), peak oxygen pulse (VO2peak/HR), forced vital capacity (FVC), forced expiratory volume in the first second (FEV1), peak expiratory flow (PEF), Fugl-Meyer Assessment-upper extremities (FMA-UE), Berg Balance Scale (BBS) and modified Barthel Index (MBI) before and after intervention. ResultsVO2peak, AT, and the scores of FMA-UE, BBS and MBI improved in the control group after intervention (|t| > 2.256, |Z| > 2.936, P < 0.05); while VO2peak, AT, VO2peak/HR, FVC, FEV1, PEF, and the scores of FMA-UE, BBS and MBI improved in the experimental group (|t| > 4.390, |Z| > 3.451, P < 0.001); and all the indexes were better in the experimental group than in the control group (|t| > 4.136,|Z| > 2.751,P < 0.01), except the scores of BBS and MBI. ConclusionModified Baduanjin exercise can improve the cardiopulmonary function and upper limb motor function for stroke patients.

4.
Journal of Pharmaceutical Practice ; (6): 131-134, 2024.
Article in Chinese | WPRIM | ID: wpr-1012794

ABSTRACT

Objective To analyze the postoperative therapeutic effect of prokinetic agents in patients after tricuspid valve replacement (TVR) under cardiopulmonary bypass. Methods Patients received TVR under cardiopulmonary bypass (during June 2010 to December 2021) in the department of Cardiovascular Surgery of the First Affiliated Hospital of Naval Medical University were selected as the subjects of our study. The data of basic characteristics, first postoperative defecation time and postoperative recovery condition were collected and retrospectively analyzed in the patients taking prokinetic agents within three days after surgery (prevention group) and patients not taking prokinetic agents within three days after surgery (control group). Results A total of 184 patients were selected, including 101 in the prevention group and 83 in the control group. The first defecation time of patients in the prevention group was significantly earlier than that in the control group (P<0.05). The incidences of abdominal distension and pulmonary infection in the prevention group were significantly lower than that in the control group. The length of time in ICU, postoperative mechanical ventilation and nasogastric tube decompression in the prevention group were significantly shorter than that in the control group (P<0.05). Conclusion Taking prokinetic agents within three days after TVR under cardiopulmonary bypass could effectively improve the prognosis of patients.

5.
Journal of Sun Yat-sen University(Medical Sciences) ; (6): 152-160, 2024.
Article in Chinese | WPRIM | ID: wpr-1007287

ABSTRACT

ObjectiveTo investigate the clinical efficacy of lumbar core muscle stability training combined with kinesiology taping technique in the rehabilitation treatment of lumbar disc herniation (LDH). MethodsA total of 99 LDH patients treated in Ningbo Yinzhou No. 2 Hospital from January 2018 to January 2020 were selected and divided into control group (n=49) and observation group (n=50). Kinesiology taping technique was applied to patients in the control group and patients in the observation group were treated with lumbar core muscle stability training combined with kinesiology taping technique, then we compared the therapeutic effect, lumbar function and pain degree, surface electromyography of lumbar extensor muscles, lumbar range of motion, LDH recurrence and skin allergies before and after the treatment between the two groups. ResultsAfter 4 weeks of treatment, compared with those in the control group, in the observation group, the visual analogue scale (VAS) and Oswestry disability index (ODI) scores were significantly lower (P<0.05); the Japanese Orthopaedic Association (JOA) score, mean power frequency of lumbar extensor muscles, integral electromyography value and lumbar function score were significantly higher (P<0.05). During the treatment, there was no significant difference in the incidence of complications between two groups (P>0.05). After 4 weeks of treatment, the observation group had a significantly lower LDH recurrence rate than the control group (P<0.05). ConclusionLumbar core muscle stability training combined with kinesiology taping technique achieves a significantly better therapeutic effect than kinesiology taping technique in the rehabilitation treatment of LDH and can effectively relieve muscle fatigue, help alleviate lumbar spine pain and improve the function of lumbar spine.

6.
Journal of Sun Yat-sen University(Medical Sciences) ; (6): 136-145, 2024.
Article in Chinese | WPRIM | ID: wpr-1007285

ABSTRACT

ObjectiveTo investigate the association between estimated glucose disposal rate (eGDR) and the severity of coronary heart disease. MethodsWe conducted a hospital-based cross-sectional study that included 1258 patients (mean age: 62(53-68) years) who underwent coronary angiography for suspected coronary artery disease (53.9% were male). Insulin resistance level (IR) was calculated according to eGDR formula: eGDR = 21.158 - (0.09 × WC) - (3.407 × hypertension) - (0.551 × HbA1c) [hypertension (yes = 1 / no = 0), HbA1c = HbA1c (%)]. Subjects were grouped according to the eGDR quantile. CAD severity was determined by the number of narrowed vessels: no-obstructive CAD group (all coronary stenosis were<50%, n=704), Single-vessel CAD group (only one involved major coronary artery stenosis≥50%, n=205), Multi-vessel CAD group (two or more involved major coronary arteries stenosis≥50%, n=349); Multivariate logistic regression model was used to analyze the association between eGDR and CAD severity. The linear relationship between eGDR and CAD in the whole range of eGDR was analyzed using restricted cubic spline. Subgroup analyses were used to assess the association between eGDR and CAD severity in different diabetic states. Receiver operating characteristic (ROC) curve analysis were used to evaluate the value of eGDR in improving CAD recognition. ResultsA decrease in the eGDR index was significantly associated with an increased risk of CAD severity (OR: 2.79; 95%CI: 1.72~4.55; P<0.001). In multivariate logistic regression models, individuals with the lowest quantile of eGDR (T1) were 2.79 times more likely to develop multi-vessel CAD than those with the highest quantile of eGDR (T3) (OR: 2.79; 95%CI: 1.72~4.55; P<0.001). Multivariate restricted cubic spline analysis showed that eGDR was negatively associated with CAD and multi-vessel CAD (P-nonlinear>0.05). In non-diabetic patients, compared with the reference group (T3), the T1 group had a significantly increased risk of CAD (OR: 1.42; 95% CI: 1.00~2.01; P<0.05) and multi-vessel CAD (OR: 1.86; 95%CI: 1.21~2.86; P<0.05). No statistical association was found between eGDR and CAD in diabetic patients. In ROC curve analysis, when eGDR was added to traditional model for CAD, significant improvements were observed in the model's recognition of CAD and multi-vessel CAD. ConclusionOur study shows eGDR levels are inversely associated with CAD and CAD severity. eGDR, as a non-insulin measure to assess IR, could be a valuable indicator of CAD severity for population.

7.
Chinese Journal of Geriatrics ; (12): 633-638, 2023.
Article in Chinese | WPRIM | ID: wpr-993866

ABSTRACT

Hospitalization is associated with disability.The physical activity of the elderly during hospitalization is significantly lower than that during non-hospitalization.Low-level physical activity not only affects the rehabilitation of the disease during hospitalization, forming hospital-related disability, but also increases the readmission rate and long-term care needs, seriously affecting older adults' quality of life.This article reviews the influencing factors and intervention measures of physical activity in hospitalized elderly patients, aiming to provide a reference for clinical practice.

8.
Journal of Chinese Physician ; (12): 196-201, 2023.
Article in Chinese | WPRIM | ID: wpr-992282

ABSTRACT

Objective:To explore the protective effect of AGK2, a selective inhibitor of sirtuin 2 (SIRT2), on the mitochondria of L02 hepatocytes induced by thioacetamide (TAA) and its related mechanism.Methods:Human-derived hepatocyte line L02 cells were cultured in vitro. Different concentrations of SIRT2 inhibitor AGK2 were used as intervention drugs. Cell counting kit-8 (CCK8) was used to detect the effects of different concentrations of AGK2 on the activity of L02 cells, and the appropriate concentration was selected as the AGK2 intervention group. The normal group was not given any drug intervention. The model group was given 90 mmol/L TAA for modeling. Low, medium and high dose AGK2 groups were added with 1, 2 and 4 μmol/L AGK2, respectively 2 h before modeling. CCK8 was used to detect cell activity in each group. Morphological changes of cells were observed under inverted light microscope. The relative protein expression levels of isocitrate dehydrogenase (IDH1), malate dehydrogenase (MDH1), SIRT2 and fission protein 1 homologue (FIS1) were detected by Western blot. The expression of SIRT2 in cells of each group was observed by confocal laser scanning microscope. The mitochondrial membrane potential of cells in each group was observed under a fluorescence microscope. Results:When AGK2 concentration was 1, 2 and 4 μmol/L, the survival rate of cells were 98.05%, 95.76% and 91.65%, respectively, with no statistical significance compared with normal group (all P>0.05). When AGK2 concentration was 8, 16, 32, 64, 128 μmol/L, the cell survival rate was significantly decreased compared with normal group (all P<0.05). Compared with the model group, the L02 cells in low, medium and high AGK2 groups had better activity and adherence, and the floating cells were significantly reduced. The higher the concentration of AGK2, the better the cell activity and adherence, and the less floating cells. Compared with the model group, the red fluorescence of L02 cells in AGK2 group was enhanced, while the green fluorescence was weakened. The higher the AGK2 concentration was, the stronger the red fluorescence was, and the weaker the green fluorescence was. Compared with the model group, the fluorescence of SIRT2 in L02 cells of low, medium and high AGK2 groups was weakened, and the higher the concentration of AGK2, the weaker the fluorescence of SIRT2. The protein expressions of IDH1 and MDH1 in L02 cells of low, medium and high AGK2 groups were significantly higher than those of model group (all P<0.05), and were positively correlated with the concentration of AGK2 ( r=0.818, P<0.05; r=0.960, P<0.05); the protein expressions of SIRT2 and FIS1 were significantly lower than those of the model group (all P<0.05), and were negatively correlated with the concentration of AGK2 ( r=-0.992, P<0.05; r=-0.998, P<0.05). Conclusions:AGK2 can reduce the mitochondrial membrane potential stimulated by TAA in L02 cells, increase the protein expression of IDH1 and MDH1, and inhibit the protein expression of SIRT2 and FIS1 in L02 cells in a dose-dependent manner.

9.
Chinese Journal of Medical Education Research ; (12): 1222-1225, 2023.
Article in Chinese | WPRIM | ID: wpr-991506

ABSTRACT

Objective:To understand the effect of standardized residency training for residents with different identity types, and put forward targeted optimization and improvement measures to achieve the homogenization of training effect.Methods:Combined with literature review and expert consultation results, a self-designed questionnaire was conducted for 324 residents who completed their courses in 2019 and 2020. The effective recovery rate of the questionnaire was 87.65%. By comparing the passing rate of first-time medical admission and completion examination of different identity types, and the training standards of six core competencies, the training effect conclusion was drawn. T-test and Fisher exact probability test were also made by SPSS 21.0. Results:The passing rates of first-time doctors and completion examinations were higher in professional masters and units than in the general population, with the highest passing rates reaching 100% (10/10) and 97.3% (72/74) respectively. There was no statistical difference between the passing rates of residents with different identity types. The overall standard of the six core competencies of the integrated professional masters was better than that of the society and unit personnel. There were statistical differences between the groups in the training standards of the four abilities of the residents with different identity types in professional literacy ( P=0.048), patient management ( P=0.030), communication and cooperation ( P=0.026) and learning promotion ( P=0.003). There was no significant difference in professional ability ( P=0.131) and teaching ability ( P=0.061). Conclusion:There is no difference in the passing rate of residents with different identity types in a military hospital, which achieves the goal of homogenization training to a certain extent. However, there are obvious differences in the standards of the six core competencies, and further optimization measures need to be explored.

10.
Chinese Pediatric Emergency Medicine ; (12): 549-552, 2023.
Article in Chinese | WPRIM | ID: wpr-990559

ABSTRACT

Epilepsy is a common chronic neurological disease, and its comorbidity has attracted more attention.The proportion of epileptic children with mental disorders is also increasing year by year.Among them, children with epilepsy have more depression and anxiety disorders.Repeated seizures can easily cause depression and anxiety, and depression and anxiety can also induce epilepsy, thus the two affect each other.The assessment, screening, diagnosis and intervention of comorbid depression and anxiety in children with epilepsy have become an important part of clinical practice.This review summarized the relationship between epilepsy and depression and anxiety disorders in children, and its research progress on pathogenesis, clinical diagnosis, evaluation and treatment.

11.
International Journal of Traditional Chinese Medicine ; (6): 772-776, 2023.
Article in Chinese | WPRIM | ID: wpr-989704

ABSTRACT

Objective:To explore the prescription and medication law of Traditional Chinese Medicine (TCM) compounds in the treatment of vascular dementia (VD) based on patent database.Methods:TCM compounds with patents about VD were retrieved from Chinese patent announcement website of the State Intellectual Property Office and CNKI. The retrieval time was from the establishment to the databases to 31 st, March 2022. The frequency, clusteringand association analysis were carried out with the help of TCM inheritance auxiliary platform (V2.5). The medication law was analyzed. Results:154 TCM compound patents for the treatment of vascular dementia were screened, involving 227 kinds of Chinese materia medica. Among them, Acori Tatarinowii Rhizoma (44 times, 28.57%) was used more frequently, and the common medicinal pair was Salviea Miltiorrhizae Radix et Rhizoma- Acori Tatarinowii Rhizoma (17 times, 11.03%). The medicinal property was mainly warm, the taste was mainly sweet, and the meridian was mainly liver meridian. Those with high confidence based on association rules were " Corni Fructus -Acori Tatarinowii Rhizoma" (0.90), " Corni Fructus -Rehmannize Radix et Praeparata" (0.90). Based on the complex network, it was concluded that the core drugs were 14 groups such as " Rehmannize Radix et Praeparata- Cistanches Herba- Corni Fructus". The new prescriptions extracted by entropy cluster analysis included 7 groups such as " Rehmannize Radix et Praeparata, Cistanches Herba, Corni Fructus and Asparagi Radix". Conclusion:The treatment of VD by TCM compounds with national patents is mainly based on tonifying deficiency, promoting blood circulation and removing blood stasis, eliminating phlegm and dampness, expelling wind and dredging collaterals, opening orifices and resuscitation, which can provide reference for clinical practice and new drug research and development.

12.
Acta Anatomica Sinica ; (6): 75-81, 2023.
Article in Chinese | WPRIM | ID: wpr-1015253

ABSTRACT

Objective To investigate the spontaneous neural activity in the brain of patients with Alzheimer' s disease (AD) used 3 indicators of resting state-functional magnetic resonance (rs-fMRI) amplitude of low frequency fluctuation (ALFF), fractional amplitude of low frequency fluctuation (fALFF) and percentage amplitude fluctuation (PerAF). Methods Totally 36 clinically diagnosed AD patients and 40 healthy volunteers were scanned by fMRI in resting state respectively. ALFF, fALFF and PerAF were used to calculate and compare the changes of brain regions between the two groups. Results Compared with the normal control group, mALFF value in AD group increased significantly in bilateral caudate nucleus, medial frontal gyrus, superior frontal gyrus, gyrus rectus, anterior cingulate gyrus, olfactive cortex, left middle frontal gyrus and inferior frontal gyrus (P<0. 05). mALFF values decreased significantly in the right middle temporal gyrus, inferior temporal gyrus, inferior occipital gyrus, middle occipital gyrus, bilateral calcarine, cuneus, lingual gyrus, superior occipital gyrus, vermis, precuneus and other regions (P<0. 05). In AD group, mfALFF value of right inferior temporal gyrus, anterior cerebellar lobe, fusiform gyrus, left superior frontal gyrus, medial frontal gyrus, middle frontal gyrus, inferior frontal gyrus, gyrus rectus and anterior cingulate gyrus increased significantly (P<0. 05); mfALFF values decreased significantly in bilateral lingual gyrus, left calcarine, cuneus, superior occipital gyrus, middle occipital gyrus and vermis (P<0. 05). In AD group, mPerAF value increased significantly in bilateral gyrus rectus, anterior cingulate gyrus, medial frontal gyrus, left superior frontal gyrus, caudate nucleus, middle frontal gyrus, inferior frontal gyrus, olfactive cortex and insula (P<0. 05); mPerAF values decreased significantly in bilateral calcarine, cuneus, superior occipital gyrus, lingual gyrus, precuneus, left fusiform gyrus, inferior occipital gyrus, right superior parietal lobule, angular gyrus, middle temporal gyrus, inferior temporal gyrus and middle occipital gyrus (P < 0. 05). Conclusion The default mode network (DMN) and visual network of AD patients are characterized by abnormal brain activity, with the most significant neural activity in the prefrontal cortex and visual cortex.

13.
Chinese Pharmacological Bulletin ; (12): 1270-1275, 2023.
Article in Chinese | WPRIM | ID: wpr-1013761

ABSTRACT

Aim To investigate the inhibition effect of 2-dodecyl-6-methoxycyclohexa-2, 5-diene-l, 4-dione ( DMDD) on renal tubular epithelial cell HK-2 endo¬plasmic reticulum stress and inflammatory responses induced by high glucose. Methods HK-2 cells were cultured in vitro and divided into normal group, high glucose group, endoplasmic reticulum stress inhibitor 4-PBA group (5 mmoL • L ) , DMDD high, medium and low dose groups (8,4,2 μmol • L

14.
Chinese Pharmacological Bulletin ; (12): 1824-1828, 2023.
Article in Chinese | WPRIM | ID: wpr-1013683

ABSTRACT

Hypertension is a risk factor for a variety of cardiovascular diseases, which is an important public health problem in the world today. MiRNAs are a class of highly conserved non-coding small RNAs. In recent years, studies have found that miRNAs are involved in the occurrence and development of hypertension through a variety of ways, causing damage to the important target organs of hypertension, such as heart, brain and kidney. This article reviews the research progress of miRNA in hypertension in recent years, in order to clarify its role in the process of hypertension and target organ damage, and provide ideas for exploring new therapeutic targets of hypertension.

15.
Chinese Journal of Pediatrics ; (12): 1124-1128, 2023.
Article in Chinese | WPRIM | ID: wpr-1013234

ABSTRACT

Objective: To summarize the clinical characteristics of epileptic seizure associated with neurofibromatosis type 1 (NF1). Methods: From January 2017 to July 2023 at Children's Hospital Capital Institute of Pediatrics, medical records of patients with both NF1 and epileptic seizure were reviewed in this case series study. The clinical characteristics, treatment and prognosis were analyzed retrospectively. Results: A total of 15 patients(12 boys and 3 girls) were collected. Café-au-lait macules were observed in all 15 patients. There were 6 patients with neurodevelopmental disorders and the main manifestations were intellectual disability or developmental delay. The age at the first epileptic seizure was 2.5 (1.2, 5.5) years. There were various seizure types, including generalized tonic-clonic seizures in 8 patients, focal motor seizures in 6 patients, epileptic spasm in 4 patients, tonic seizures in 1 patient, absence in 1 patient, generalized myoclonic seizure in 1 patient and focal to bilateral tonic-clonic seizure in 1 patient. Among 14 patients whose brain magnetic resonance imaging results were available, there were abnormal signals in corpus callosum, basal ganglia, thalamus or cerebellum in 6 patients, dilated ventricles of different degrees in 3 patients, blurred gray and white matter boundary in 2 patients, agenesis of corpus callosum in 1 patient and no obvious abnormalities in the other patients. Among 13 epilepsy patients, 8 were seizure-free with 1 or 2 antiseizure medications(ASM), 1 with drug resistant epilepsy was seizure-free after left temporal lobectomy, and the other 4 patients who have received 2 to 9 ASM had persistent seizures. One patient with complex febrile convulsion achieved seizure freedom after oral administration of diazepam on demand. One patient had only 1 unprovoked epileptic seizure and did not have another seizure without taking any ASM. Conclusions: The first epileptic seizure in NF1 patients usually occurs in infancy and early childhood, with the main seizure type of generalized tonic-clonic seizure and focal motor seizure. Some patients have intellectual disability or developmental delay. Most epilepsy patients achieve seizure freedom with ASM.


Subject(s)
Male , Female , Humans , Child, Preschool , Child , Neurofibromatosis 1/diagnosis , Retrospective Studies , Intellectual Disability , Electroencephalography , Epilepsy/etiology , Seizures/etiology
16.
Chinese Journal of Pediatrics ; (12): 726-730, 2023.
Article in Chinese | WPRIM | ID: wpr-1013162

ABSTRACT

Objective: To discuss the clinical and genetic features of intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures (IDDBCS). Methods: The clinical and genetic records of a patient who was diagnosed with IDDBCS caused by PHF21A gene variation at Children's Hospital Capital Institute of Pediatrics in 2021 were collected retrospectively. Using " PHF21A gene" as the keyword, relevant articles were searched at CNKI, Wanfang Data and PubMed from establishment of databases to February 2023. Clinical and genetic features of IDDBCS were summarized in the combination of this case. Results: An 8 months of age boy showed overgrowth (height, weight and head circumference were all higher than the 97th percentile of children of the same age and sex) and language and motor developmental delay after birth, and gradually showed autism-like symptoms like stereotyped behavior and poor eye contact. At 8 months of age, he began to show epileptic seizures, which were in the form of a series of spastic seizures with no reaction to adrenocorticotropic hormone but a good response to vigabatrin. Physical examination showed special craniofacial appearances including a prominent high forehead, sparse eyebrows, broad nasal bridge, and downturned mouth with a tent-shaped upper lip. The patient also manifested hypotonia. Whole exome sequencing showed a de novo heterogeneous variant, PHF21A (NM_001101802.1): c.54+1G>A, and IDDBCS was diagnosed. A total of 6 articles (all English articles) were collected, involving this case and other 14 patients of IDDBCS caused by PHF21A gene variation. Clinical manifestations were intellectual disability or developmental delay (15 patients), craniofacial anomalies (15 patients), behavioral abnormalities (12 patients), seizures (9 patients), and overgrowth (8 patients). The main pathogenic variations were frameshift variations (8 patients). Conclusions: IDDBCS should be considered when patients show nervous developmental abnormalities, craniofacial anomalies, seizures and overgrowth. PHF21A gene variation detection helps to make a definite diagnosis.


Subject(s)
Male , Humans , Child , Intellectual Disability/genetics , Developmental Disabilities/genetics , Retrospective Studies , Seizures/genetics , Craniofacial Abnormalities/genetics , Histone Deacetylases/genetics
17.
Journal of Sun Yat-sen University(Medical Sciences) ; (6): 271-276, 2023.
Article in Chinese | WPRIM | ID: wpr-965842

ABSTRACT

ObjectiveCentral nervous system (CNS) infiltration commonly occurs in children with acute lymphoblastic leukemia (ALL). Early subclinical CNS infiltration in pediatric ALL is hard to detect with conventional methods. This study aimed to investigate the changes of brain structure volume parameters based on Synthetic MRI (SyMRI) in pediatric ALL without clinically diagnosed CNS infiltration. MethodsThirty-six ALL and twenty-nine typically developing (TD) children were prospectively collected and all underwent SyMRI. The Synthetic MR software was used to obtain brain volumetric parameters including total white matter volume (WMV), gray matter volume (GMV), cerebrospinal fluid (CSF) volume, etc. and their within-group differences were assessed by analysis of covariance. The Spearman correlation analysis was used to examine the correlation between biological characteristics and statistically significant brain volume parameters. ResultsALL children showed increased CSF volume (PFDR-corrected = 0.009) and decreased GMV (PFDR-corrected = 0.027) when compared to TD children. We also found a moderately negative association between GMV/intracranial volume and risk classification in pediatric ALL (rs = -0.380, P = 0.022). ConclusionsPediatric ALL without clinically diagnosed CNS infiltration presented with accumulation of CSF and reduction of gray matter. The brain volumetric changes in subclinical CNS infiltration of pediatric ALL provides a new attempt for exploring the underlying mechanism and early detection of CNS infiltration in pediatric ALL.

18.
Chinese Journal of Biologicals ; (12): 124-127, 2023.
Article in Chinese | WPRIM | ID: wpr-965590

ABSTRACT

@#Abstract:Pyroptosis is a new programmed cell death mode,which plays a dual role in the pathogenesis of hepatocellular carcinoma(HCC). On the one hand,inflammasomes causing pyroptosis and inflammatory mediators released during cell pyroptosis promote the occurrence and development of HCC;On the other hand,pyroptosis can inhibit the proliferation, metastasis and invasion of HCC cells. With the deepening of research,the role of pyroptosis in HCC has become increasingly prominent. This paper reviews the potential effects of pyroptosis on the progression of HCC and its role in anticancer therapy. Keywords:Pyroptosis;Inflammasome;Hepatocellular carcinoma(HCC);Gasdermin D(GSDMD)

19.
Chinese Journal of Blood Transfusion ; (12): 211-214, 2023.
Article in Chinese | WPRIM | ID: wpr-1005123

ABSTRACT

【Objective】 To compare the difference in the detection rate of microorganisms in cord blood between BACTEC FX and BacT/ALERT 3D automated blood culture systems, and to compare the influence of incubation time and different types of culture sample on the detection rate of microorganisms in cord blood. 【Methods】 Cord blood samples prepared from April to August 2020 in Sichuan Cord Blood Bank(n=4 358) were selected, and 20 mL of plasma was used as culture samples for microbial detection. In addition, cord blood samples prepared in the same months of 2021(n=4 057) were selected, and 19 mL of plasma plus 1 mL of final product was used as culture samples for microbial detection. The total sample size was 8 415, of which 4 849 samples(2 458 in plasma group and 2 391 in plasma plus final product group) were assigned to the BACTEC FX system, and 3 566 samples(1 900 in the plasma group and 1 666 in the plasma plus final product group) to the BacT/ALERT 3D system. All samples were cultured for 7 days, and culture data were recorded on day 5 and day 7. Positive results were confirmed by Gram staining. 【Results】 The positive rate detected by the BACTEC FX system was higher than that of the BacT/ALERT 3D system(4.08% vs 2.69%), with statistically significant difference(P0.05) detected by the BacT/ALERT 3D system. With quality control strains, there were significant differences in TTP between these two systems for Staphylococcus aureus, Escherichia coli, Pseudomonas aeruginosa, Clostridium sporogenes, and Bacillus subtilis(P0.05). 【Conclusion】 This study suggests that the selection of BACTEC FX blood culture system with incubation time of not less than 7 days and plasma plus final product as culture samples may improve the detection rate of microorganisms in cord blood.

20.
Chinese Journal of Experimental Traditional Medical Formulae ; (24): 36-46, 2023.
Article in Chinese | WPRIM | ID: wpr-997655

ABSTRACT

ObjectiveTo investigate the mechanism of Yiqi Huoxue Tongluo prescription (YHTP) in the treatment of diabetic neuropathic pain (DNP). MethodNinety SPF-grade SD male rats were randomized into blank, model, low- (2.25 g·kg-1), medium- (4.5 g·kg-1), and high-dose (9 g·kg-1) YHTP, and mecobalamin (0.175 mg·kg-1) groups. Except those in the blank group, the rats in the remaining 5 groups were fed with a high-fat and high-glucose diet and subjected to intraperitoneal injection of low-dose (35 mg·kg-1) streptozotocin (STZ) to establish the model of DNP. The sciatic nerve conduction velocity in DNP rats was measured by the neurophysiological method, and the levels of interleukin-6 (IL-6), IL-1β, and tumor necrosis factor-α (TNF-α) were measured by enzyme-linked immunosorbent assay (ELISA). Real-time fluorescence quantitative polymerase chain reaction (Real-time PCR) was employed to measure the mRNA levels of glial fibrillary acidic protein (GFAP) and extracellular signal-regulated kinase (ERK) in the spinal cord. Western blot was employed to measure the protein levels of GFAP and phosphorylated ERK (p-ERK), and immunofluorescence staining to measure the fluorescence intensity of GFAP and p-ERK in the spinal cord. In the cell experiments, 100 mmol·L-1 high glucose was used to induce the activation of astrocytes (CTX-TNA2) for the modeling of nerve cell injury. The cells were randomized into the normal, model, drug-containing serum (10% YQHT), inhibitor [10 mol·L-1 corynoxeine (COR)], drug-containing serum + inhibitor (10% YHTP + 10 mol·L-1 COR) groups. The levels of pro-inflammatory factors (TNF-α and IL-1β) and the anti-inflammatory factor IL-10 in CTX-TNA2 cells were determined by ELISA, and the protein levels of GFAP and p-ERK in CTX-TNA2 cells by Western blot. ResultThe animal experiments showed that compared with the blank group, the model group presented reduced mechanical withdrawal threshold (MWT), thermal work limit (TWL), and nerve conduction velocity, elevated levels of fasting blood glucose, IL-1β, TNF-α, and IL-6, and up-regulated protein levels of GFAP and p-ERK, and mRNA levels of ERK1, ERK2, GFAP (P<0.01). Compared with model group, YHTP increased the MWT, TWL, and sciatic nerve conduction velocity (P<0.01), lowered the levels of IL-1β, TNF-α, and IL-6 (P<0.01), and down-regulated the protein levels of GFAP and p-ERK, and mRNA levels of ERK1, ERK2, GFAP in the spinal cord (P<0.05, P<0.01). The cell experiments showed that compared with the blank group, the model group had decreased survival rate, elevated levels of pro-inflammatory factors, and up-regulated protein levels of ERK and GFAP (P<0.01). Compared with the model group, the YHTP-containing serum lowered the levels of IL-1β and TNF-α (P<0.05, P<0.01), elevated the level of IL-10 (P<0.01), and down-regulated the protein levels of ERK and GFAP (P<0.01). ConclusionYHTP may inhibit the activation of astrocytes by inhibiting the ERK signaling pathway to reduce inflammation and thus relieve DNP.

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