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Objective:Migraine and tremor share some genetic mutation sites,and clinical studies have also confirmed their correlation.This study aims to explore the clinical and electrophysiological characteristics of migraine patients with concomitant tremor,and to analyze the relevant influential factors of tremor occurrence. Methods:We retrospectively analyzed the clinical data of 217 migraine patients who visited the Third Affiliated Hospital of Qiqihar Medical University from June 2022 to October 2023.The Clinical Rating Scale for Tremor(CRST),Numerical Rating Scale(NRS),Generalized Anxiety Disorder-7(GAD-7),and Patient Health Questionnaire-9(PHQ-9)were respectively used to assess the tremor symptoms,degree of headache,anxiety,and depression of patients.All patients underwent routine head MR scanning and electromyography examination,and were divided into a migraine with tremor group and a migraine without tremor group based on the electromyogram examination. Results:The migraine with tremor group and the migraine without tremor group were included 52 patients(23.96%)and 165 patients(76.04%),respectively.Compared with the migraine without tremor group,the migraine with tremor group had a longer course and duration of headache,higher frequency of headache attacks,higher NRS score,GAD-7 score,and PHQ-9 score,and fewer weekly physical exercises.The differences were statistically significant(all P<0.05).There were no statistically significant differences in the presence or absence of prodromal headache and white matter hyperintensities(WMHs)between the 2 groups(both P>0.05).The evaluation results of the CRST showed that out of 217 migraine patients,39 patients(17.97%)were accompanied by tremors.The electromyographic results showed that all 52 migraine patients with tremors had upper limb tremors,including 28 migraine patients with postural tremors and 24 migraine patients with static tremors.Compared with the migraine patients with static tremors,the migraine patients with postural tremors had lower average frequency,peak frequency,and headache onset frequency(all P<0.05).Multiple linear regression analysis showed that frequency of physical exercise,duration of illness,frequency of headache attacks,NRS score,GAD-7 score,and PHQ-9 score were risk factors for migraine patients with concomitant tremors(all P<0.05). Conclusion:Patients with migraine mainly experience upper limb postural tremors.Reduced physical exercise,long course of disease,long duration of headache,frequent headache attacks,severe headache,anxiety,and depression are risk factors for migraine patients with concomitant tremors.
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OBJECTIVES@#To observe the effects of electroacupuncture (EA) at "Neiguan" (PC 6) and "Zusanli"(ST 36) on the gastric emptying rate, the level of serotonin (5-HT) and the protein expression of motilin (MTL), ghrelin, substance P (SP) and vasoactive intestinal peptide (VIP) in the antral tissue of the rats with functional dyspepsia (FD) and explore the effect mechanism of EA in treatment of FD.@*METHODS@#A total of 21 SPF male SD rat pups were randomly divided into a normal group, a model group and an EA group, with 7 rats in each group. In the model group and the EA group, FD model was prepared by the gavage with 0.1% sucrose iodoacetamide solution combined with the modified small platform method. After the successful modeling, EA was applied to "Neiguan" (PC 6) and "Zusanli"(ST 36) in the rats of the EA group, with disperse-dense wave, 20 Hz/100 Hz in frequency, stimulated for 30 min, once daily, for 7 days consecutively. Before and after intervention, the general condition of the rats was observed in each group. After the completion of intervention, the gastric emptying rate was measured, the morphological changes of gastric antral tissue were observed using HE staining, the level of 5-HT was detected with ELISA method, and the protein expression of MTL, ghrelin, SP, and VIP was determined with Western blot method in the antral tissue of rats.@*RESULTS@#In the normal group, the rats were in a good mental state, with lustrous fur, flexible movement and the increase of food intake and body mass. In the model group, the rats were poor in mental state, lack of lustre in fur, preference for the body curled up, reduced activity and response; and a part of rats had loose stool, obviously enlarged gastric body and gastric food retention. In the EA group, the general condition of rats, e.g. the mental state, food intake and activity, were improved, the gastric body got smaller obviously and the gastric food retention was reduced when compared with the model group. The antral structure was intact, the glands were rich and no injury of the gastric mucosa was found, e.g. inflammatory reaction and edema in the rats of each group. Compared with the normal group, the gastric emptying rate was decreased (P<0.01), 5-HT level was increased (P<0.01), the protein expression of MTL and ghrelin was reduced (P<0.01) and that of VIP was elevated (P<0.01) in the rats of the model group. The gastric emptying rate was increased (P<0.01), 5-HT level was decreased (P<0.01), and the protein expression of MTL and ghrelin was elevated (P<0.05, P<0.01) in the rats of the EA group when compared with those in the model group.@*CONCLUSIONS@#Electroacupuncture at "Neiguan" (PC 6) and "Zusanli"(ST 36) may effectively relieve gastric dysfunction, strengthen gastric motility and promote gastric emptying so as to alleviate the symptoms of dyspepsia in FD rats, and its mechanism may be related to the regulation of gastrointestinal hormones in the antral tissue.
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Rats , Mâle , Animaux , Électroacupuncture , Dyspepsie/thérapie , Rat Sprague-Dawley , Ghréline , Hormones gastrointestinales , Sérotonine , Peptide vasoactif intestinal , Points d'acupunctureRésumé
With the acceleration of the aging society, neurodegenerative diseases, such as Alzheimer's disease (AD) and Parkinson's disease (PD), have become a rapidly growing global health crisis. Recent studies have indicated that microglia-neuron interactions are critical for maintaining homeostasis of the central nervous system. Genome-Wide Association Studies and brain imaging studies have suggested that microglia are activated in early stage of neurodegenerative diseases. Microglia are specialized phagocytes in the brain. The discovery of a new phagocytic pathway, trogocytosis, suggests that there is a close interaction between microglia and surviving neurons. In this review, we summarize the important roles of microglia in neurodegenerative diseases, and further analyze the functions and molecular mechanisms of microglia phagocytosis and trogocytosis.
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Humains , Maladie d'Alzheimer , Étude d'association pangénomique , Microglie/métabolisme , Maladies neurodégénératives , Phagocytose/physiologieRésumé
Objective@#Testicular germ cell tumors (TGCT) are the most common cancer among men aged 15 to 39 years. Previous studies have considered factors related to TGCT survival rate and race/ethnicity, but histological type of the diagnosed cancer has not yet been thoroughly assessed.@*Methods@#The data came from 42,854 eligible patients from 1992 to 2015 in the Surveillance Epidemiology and End Results 18. Frequencies and column percent by seminoma and nonseminoma subtypes were determined for each covariates. We used Cox proportional hazard regression to assess the impact of multiple factors on post-diagnostic mortality of TGCT.@*Results@#Black males were diagnosed at a later stage, more commonly with local or distant metastases. The incidence of TGCT in black non-seminoma tumors increased most significantly. The difference in survival rates between different ethnic and histological subtypes, overall survival (OS) in patients with non-seminoma was significantly worse than in patients with seminoma. The most important quantitative predictor of death was the stage at the time of diagnosis, and older diagnostic age is also important factor affecting mortality.@*Conclusion@#Histological type of testicular germ cell tumor is an important factor in determining the prognosis of testicular cancer in males of different ethnic groups.
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Adulte , Humains , Mâle , Disparités de l'état de santé , Tumeurs embryonnaires et germinales/anatomopathologie , Pronostic , Facteurs de risque , Programme SEER/statistiques et données numériques , Séminome/anatomopathologie , Taux de survie/tendances , Tumeurs du testicule/anatomopathologie , États-Unis/ethnologieRésumé
BACKGROUND@#Resting-state functional magnetic resonance imaging (rs-fMRI) is a promising method for the study of brain function. Typically, rs-fMRI is performed on anesthetized animals. Although different functional connectivity (FC) in various anesthetics on whole brain have been studied, few studies have focused on different FC in the aged brain. Here, we measured FC under three commonly used anesthesia methods and analyzed data to determine if the FC in whole brain analysis were similar among groups.@*METHODS@#Twenty-four male aged Wistar rats were randomly divided into three groups (n = 8 in each group). Anesthesia was performed under either isoflurane (ISO), combined ISO + dexmedetomidine (DEX) or α-chloralose (AC) according to the groups. Data of rs-fMRI was analyzed by FC in a voxel-wise way. Differences in the FC maps between the groups were analyzed by one-way analysis of variance and post hoc two-sample t tests.@*RESULTS@#Compared with ISO + DEX anesthesia, ISO anesthesia caused increased FC in posterior brain and decreased FC in the middle brain of the aged rat. AC anesthesia caused global suppression as no increase in FC was observed.@*CONCLUSION@#ISO could be used as a substitute for ISO + DEX in rat default mode network studies if the left temporal association cortex is not considered important.
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Animaux , Mâle , Rats , Anesthésie , Encéphale/imagerie diagnostique , Cartographie cérébrale , Isoflurane , Imagerie par résonance magnétique , Rat WistarRésumé
Objective To investigate the effect of early-stage training combined with the ultrashort wave therapy on the functional recovery of rats after a spinal cord injury, and to observe the expression of aquaporin pro-tein-4 ( AQP-4) and glial fibrillary acidic protein ( GFAP ) . Methods Fifty female Sprague-Dawley rats had spinal cord injury ( SCI) induced using the modified Allen's method. After successful modeling, 40 were randomly divided into a sham operation group, a control group, an ultrashort wave group, a treadmill group and a combined group, each of 8. Motor function in their hind limbs was evaluated 4 weeks after the operation using BBB scoring. GFAP and AQP-4 immunohistochemical staining were used to determine the integral optical density ( IOD) of the protein expres-sion. Results The average BBB score of the sham operation group was 21, while the other four groups averages were all less than 1 on the 1st day after the operation. They gradually increased with time, and by 4 weeks the increa-ses were significant. Compared with the control group at the same time point, the average BBB scores of the treadmill and the combined groups were significantly higher. Compared with the ultrashort wave group, the average BBB score of the treadmill group was higher after 4 weeks, and the combined group's average was significantly higher at 2, 3 and 4 weeks after the operation. Four weeks after the SCI modeling, the average AQP-4 IOD and GFAP IOD levels of the ultrashort wave group, the treadmill group and the combined group were lower than that of the control group, while the average AQP-4 and GFAP IOD levels of the combined group were significantly lower than those of the ultrashort wave group. Compared with the treadmill group, the combined group had a significantly lower average GFAP level. Conclusions Both treadmill training and ultrashort wave treatment promote motor function recovery after a spinal cord injury. The mechanism may be related to downregulation of AQP-4 and GFAP expression at the injured site. Combining the two treatments gives better effects.
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Objective To discuss the correlation between gastrointestinal symptoms concomitant with chronic migraine and sleep disorders,anxiety and depression.Methods Self-rating Anxiety Scale (SAS),Self-rating Depression Scale (SDS),Pittsburgh Sleep Quality Index (PSQI) and Gastrointestinal Symptom Rating Scale (GSRS) were adopted to conduct comparative analysis on gastrointestinal symptoms,anxiety,depression,sleep disorders,and related risk factors in 151 chronic migraine patients who conformed to International Headache Society International Classification of Headache Diseases-Ⅱ diagnostic code and 151 healthy controls in the Third Affiliated Hospital of Qiqihar Medical University from January 2015 to December 2017.Results PSQI scores (8.46±2.54 vs 4.53±1.95,t=2.913,P<0.05),SAS scores (53.24± 11.66 vs 39.58±8.63,t=3.112,P<0.05),SDS scores (51.09±8.80 vs 36.11±5.74,t=3.520,P<0.05),and GSRS scores (4.53 (3.74,5.32) vs 1.29 (0.73,1.31),Z=30.804,P<0.05) were all higher in migraine patients than that in healthy controls,and the differences were all statistically significant.In chronic migraine patients,139 (92.05%) had one gastrointestinal symptom at least,and the overall incidence of each gastrointestinal symptom was abdominal distension (60 cases,39.74%),exhaust increase (51 cases,33.77%),and endless defecation (43 cases,28.48%),etc.,in turn.Multiple regression analysis showed that headache degree,frequency,PSQI scores,SAS scores,and SDS scores were the main risk factors of gastrointestinal symptoms concomitant with chronic migraine.GSRS scores of chronic migraine patients presented positive correlation with PSQI scores (r=0.65,P=0.000),SAS scores (r=0.42,P=0.000),and SDS scores (r=0.48,P=0.000),respectively.Conclusion Chronic migraine patients are easy to be accompanied with gastrointestinal symptoms,and headache degree and frequency,sleep disorders,depression and anxiety are the main risk factors of concomitant gastrointestinal symptoms.
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Objective@#To investigate the effect of early-stage training combined with the ultrashort wave therapy on the functional recovery of rats after a spinal cord injury, and to observe the expression of aquaporin protein-4 (AQP-4) and glial fibrillary acidic protein (GFAP).@*Methods@#Fifty female Sprague-Dawley rats had spinal cord injury (SCI) induced using the modified Allen′s method. After successful modeling, 40 were randomly divided into a sham operation group, a control group, an ultrashort wave group, a treadmill group and a combined group, each of 8. Motor function in their hind limbs was evaluated 4 weeks after the operation using BBB scoring. GFAP and AQP-4 immunohistochemical staining were used to determine the integral optical density (IOD) of the protein expression.@*Results@#The average BBB score of the sham operation group was 21, while the other four groups averages were all less than 1 on the 1st day after the operation. They gradually increased with time, and by 4 weeks the increases were significant. Compared with the control group at the same time point, the average BBB scores of the treadmill and the combined groups were significantly higher. Compared with the ultrashort wave group, the average BBB score of the treadmill group was higher after 4 weeks, and the combined group′s average was significantly higher at 2, 3 and 4 weeks after the operation. Four weeks after the SCI modeling, the average AQP-4 IOD and GFAP IOD levels of the ultrashort wave group, the treadmill group and the combined group were lower than that of the control group, while the average AQP-4 and GFAP IOD levels of the combined group were significantly lower than those of the ultrashort wave group. Compared with the treadmill group, the combined group had a significantly lower average GFAP level.@*Conclusions@#Both treadmill training and ultrashort wave treatment promote motor function recovery after a spinal cord injury. The mechanism may be related to downregulation of AQP-4 and GFAP expression at the injured site. Combining the two treatments gives better effects.
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The present study aimed to investigate the protective mechanism of N-acetylcysteine (NAC) against gastric ischemia /reperfusion (GI/R) injury in rats. After intravenous injection (IV) of NAC (150 mg/kg) into femoral vein, the rats were subjected to 30 min of ischemia induced by clamping the celiac artery followed by 60 min of reperfusion. After the gastric mucosal damage index (GMDI) had been calculated, gastric mucosal cell in situ apoptosis was detected by TUNEL method. The protein expression of p-ERK, p-JNK and NF-kappaB, and mRNA expression of TNF-alpha and Caspase-3 in gastric mucosa were evaluated by using Western-blot or RT-PCR, respectively. The results showed that NAC not only attenuated the GI-R injury, but also decreased gastric mucosal cellular apoptosis. Furthermore, NAC increased the protein expression of p-ERK, while inhibited protein expression of p-JNK, NF-kappaB in gastric mucosa. NAC also decreased the expression of TNF-alpha mRNA and Caspase-3 mRNA in gastric mucosa. Capsazepine (CPZ) (400 mg/kg, IV) reversed the protective effect of NAC against GI/R injury in rats. These results suggest that NAC can protect rats against GI/R injury. This protective effect is possibly mediated by the up-regulation of p-ERK and down-regulation of p-JNK and NF-kappaB. In addition, vanilloid receptor subtype 1 may be involved in the protective mechanism of NAC against GI/R injury.
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Animaux , Mâle , Rats , Acétylcystéine , Pharmacologie , Apoptose , Muqueuse gastrique , Anatomopathologie , Agents protecteurs , Pharmacologie , Rat Sprague-Dawley , Lésion d'ischémie-reperfusion , EstomacRésumé
In the present study, rat model of gastric ischemia-reperfusion (GI-R) injury was established by clamping the celiac artery for 30 min followed by 1 h of reperfusion. Subsequently, the regulatory effect of electrical stimulation of cerebellar fastigial nucleus (FN) on GI-R injury and its neural mechanisms were investigated in Sprague-Dawley rats. The results are as follows. Electrical stimulation of the cerebellar FN not only obviously attenuated the GI-R injury in an intensity-dependent manner, but also decreased the apoptosis rate of gastric mucosal cells. Chemical lesion of FN eliminated the protective effect of electrical stimulation of FN on GI-R injury. Electrical stimulation of cerebellar FN decreased both the frequency and amplitude of the discharges of greater splanchnic nerve, but it could not change the discharge of greater splanchnic nerve following the lesion of the lateral hypothalamic area (LHA). After bilateral section of the greater splanchnic nerves, electrical stimulation of the FN also attenuated the GI-R injury. Chemical lesion of the LHA reversed the protective effect of electrical stimulation of FN on GI-R injury. Electrical stimulation of FN increased the activity of superoxide dismutase (SOD), but decreased the content of malondialdehyde (MDA) in gastric mucosa under GI-R. These results indicate that the cerebellar FN may regulate GI-R injury. Therefore, the cerebellar FN is an important brain site protecting the stomach against GI-R. The LHA and greater splanchnic nerves participate in the regulatory effects of cerebellar FN stimulation on GI-R injury. In addition, antioxidation may also be involved in the protection mechanism of cerebellar FN stimulation.
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Animaux , Rats , Apoptose , Noyaux du cervelet , Physiologie , Stimulation électrique , Muqueuse gastrique , Biologie cellulaire , Métabolisme , Aire hypothalamique latérale , Malonaldéhyde , Métabolisme , Rat Sprague-Dawley , Lésion d'ischémie-reperfusion , Superoxide dismutase , MétabolismeRésumé
<p><b>OBJECTIVE</b>To identify the mutations of iduronate-2-sulfatase (IDS) gene, and to establish a basis of prenatal gene diagnosis of Hunter syndrome.</p><p><b>METHODS</b>Urine glycosaminoglycan (GAG) assay was used to preliminary diagnosis of mucopolysaccharidosis. PCR-denaturing high-performance liquidchromatograptly (PCR-DHPLC) analysis was performed to detect the mutation in exons 9, 3, 8 of the IDS gene. DNA sequencing was applied to analyze the mutation detected by PCR-DHPLC.</p><p><b>RESULTS</b>Abnormal peaks were found by PCR-DHPLC. A new frame-mutation (1569+TT) in exon 9 of IDS gene was identified by DNA sequencing. Two "T"q inserted in position 1569 base pair (1569+TT) caused a substitution of codon 482 (TTA, leucine) to 482 (TTT, phenylalanine). The "TT" insertion results in the decrease of amino acids from 550 to 482. The patient is a hemizygote and his mother is a heterozygote.</p><p><b>CONCLUSION</b>A new frame-shift mutation of IDS gene is found to report. The mutation (1569+TT) results in 68 amino acids lost. Probably it causes the enzyme activity seriously dropped down and being pathologically the basis of disease.</p>
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Enfant d'âge préscolaire , Humains , Mâle , Chromatographie en phase liquide à haute performance , Analyse de mutations d'ADN , Iduronate 2-sulfatase , Génétique , Données de séquences moléculaires , Mucopolysaccharidoses , Génétique , Mucopolysaccharidose de type II , Génétique , MutationRésumé
<p><b>OBJECTIVE</b>Mutations of the iduronate-2-sulfatase (IDS) gene is the ultimate cause of Hunter syndrome. Clarification of the nature of mutations will create a necessary premise for prenatal gene diagnosis. A mucopolysaccharidosis (MPS) type II patient and his parents from an ethnic minority in Yunnan province were studied to identify their possible mutation in IDS gene to establish the basis for prenatal gene diagnosis.</p><p><b>METHODS</b>The patient was a boy, 6 years and 10 months old. Urine glycosaminoglycans (GAGs) assay was used for preliminary diagnosis of the patient and his parents with the disease. The three related persons' DNA was extracted and the concentration and purity of the DNA were measured after the urine test results confirmed the diagnosis. Polymerase chain reaction-denaturing high performance liquid chromatography (PCR-DHPLC) analysis was performed to detect the position of the mutation around the hot spots of mutation in exon 9, 3, 8 of the IDS gene. DNA bidirectional direct sequencing was applied to analyze the mutation detected by PCR-DHPLC.</p><p><b>RESULTS</b>The results of GAGs test showed that in the child with MPS, dermatan sulfate (DS) was positive (+++), heparan sulfate (HS) (+++), chondroitin sulfate (CS) and keratan sulfate (KS) were negative (-); while in his parents none of DS, HS, CS and KS was positive. Abnormal peaks in exon 9 of IDS gene shown by PCR-DHPLC were found in the patient. His mother had heterozygotic peaks. A new frame-mutation (1343-TT) in exon 9 of IDS gene of this patient was confirmed by DNA sequencing. The position where mutation occurred was inside codon 407 (TTT), that means two "T" deleted at position 1343 base pair (1343-TT) in cDNA of the IDS gene, caused a new frame-mutation. It caused elongation of the amino acid chain to a terminal codon TGA at position 429. Thus the peptide chain was shortened from 550 to 428 amino acids. The patient is a hemizygote of the mutation and his mother is a heterozygote.</p><p><b>CONCLUSION</b>A new frame-mutation (1343-TT) on the IDS gene was identified in this study. The patient is a hemizygote and his mother is a heterozygote. The mutation (1343-TT) resulted in loss of 122 amino acids, which probably caused seriously decreased enzyme activity of IDS, and the authors speculate that this mutation may be the pathological basis of the disease. So, if the mother becomes pregnant again, a prenatal gene diagnostic test for the same mutation should be performed. Furthermore, PCR-DHPLC followed by DNA sequencing are effective methods for diagnosis, including prenatal diagnosis of MPS II.</p>
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Enfant , Humains , Mâle , Séquence d'acides aminés , Asiatiques , Séquence nucléotidique , Chine , Chromatographie en phase liquide à haute performance , Génotype , Iduronate 2-sulfatase , Génétique , Données de séquences moléculaires , Mucopolysaccharidose de type II , Diagnostic , Génétique , Mutation , RT-PCRRésumé
<p><b>OBJECTIVE</b>Of denaturing high performance liquid chromatography (DHPLC), a technique platform was developed for screening G6PD deficient variants.</p><p><b>METHODS</b>When applied to screen and identify the G6PD deficient variants from 124 patients who come from 11 nations in China, the DHPLC was compared with amplification refractory mutation system (ARMS) or DNA sequence technique and assessed carefully in its accuracy, sensitivity, efficiency and the cost of experiment.</p><p><b>RESULTS</b>The G6PD-deficient variants, such as 1388 G-->A (36/124 cases), 1376 G-->T(35), 95 A-->G (14), 1024 C-->T (3), 392 G-->T (4), 871 G-->A /1311 C-->T /IVS XI +93 t-->c (9), 871 G-->A (1), 1311 C-->T/IVS XI +93 t-->c (4), 1376 G-->T /1388 G-->A (1) and so on, were characterized as sharp peaks by DHPLC and verified by DNA sequence. Further, the standard chromatograms were put into database for 8 kinds of common G6PD deficient variants in Chinese populations. And also DHPLC found 3 G6PD variants (1388 G-->A) from 103 negative controls. With taking 8.8 minutes and costing 1 dollar for each sample, DHPLC successfully detected and identified 34 heterozygous females from patients with G6PD deficiency. However, ARMS checked 83 positive controls but got 12 false G6PD mutants, of which 5 were false positive, 7 false negative. Above results show that DHPLC sounds like to be more convenience, sensitive and accurate than ARMS and DNA sequence techniques for checking G6PD mutants.</p><p><b>CONCLUSION</b>DHPLC is of great advantage to screen the G6PD deficient variants with accuracy, convenience, automation and less cost, and significantly to identify the female heterozygote and clinical type IV individuals with G6PD deficiency.</p>
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Femelle , Humains , Mâle , Chromatographie en phase liquide à haute performance , Méthodes , Analyse de mutations d'ADN , Glucose 6-phosphate dehydrogenase , Génétique , Déficit en glucose-6-phosphate-déshydrogénase , Diagnostic , Génétique , Mutation , Reproductibilité des résultatsRésumé
<p><b>OBJECTIVE</b>To make technical standard of acupuncture manipulation for acupuncture treatment of heroin withdrawal syndrome.</p><p><b>METHODS</b>Two hundred and twenty cases of heroin withdrawal syndrome were randomly divided into an acupuncture group of 111 cases and a control group of 109 cases. They were respectively treated with acupuncture and oral administration of lofexidine hydrochloride, and their therapeutic effects were observed.</p><p><b>RESULTS</b>The heroin dependence (acute stage) were effectively withdrawn in the two groups. The treatment group in change of total scores for withdrawal symptoms before and after treatment, the total scores for withdrawal symptoms at the 4th and 5th days, treatment of insomnia and the score for self-Hamilton Anxiety Scale and the score after at the 4th day was superior to the control group (P < 0.05, P < 0.01, P < 0.001).</p><p><b>CONCLUSION</b>Acupuncture has a satisfactory, rapid, safe and reliable clinical therapeutic effect.</p>
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Humains , Thérapie par acupuncture , Anxiété , Héroïne , Dépendance à l'héroïne , Syndrome de sevrageRésumé
<p><b>OBJECTIVE</b>Studying on G6PD polymorphism from Hakka population in Guangdong province.</p><p><b>METHODS</b>Identifying the variants of G6PD gene and determining the frequencies respectively with the use of amplified refractory mutation system(ARMS), polymerase chain reaction-single strand conformation polymorphism(PCR-SSCP) and ABI 3100 DNA sequencing technologies.</p><p><b>RESULTS</b>Mutations of G6PD gene in cDNA 1388 (G-->A), 1376 (G-->T), 95 (A-->G), 392 (G-->T), 1024 (C-->T), 1311 (C-->T) have been found.</p><p><b>CONCLUSION</b>G6PD cDNA 1388 (G-->A), 1376 (G-->T), 95(A--> G), 392 (G-->T), 1024 (C-->T) and 1311 (C-->T) accompanied with intron 11 (93 T-->C) are the common mutations in Chinese population. cDNA 1388 (G-->A), cDNA 1376 (G-->T) are the most popular G6PD gene variants in Hakka population. In this study, no new type of G6PD gene mutation was found in the Hakkas of Guangdong.</p>
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Humains , Asiatiques , Génétique , Chine , Analyse de mutations d'ADN , Glucose 6-phosphate dehydrogenase , Génétique , Déficit en glucose-6-phosphate-déshydrogénase , Ethnologie , Génétique , Introns , Réaction de polymérisation en chaîne , Polymorphisme de nucléotide simple , Analyse de séquence d'ADNRésumé
<p><b>OBJECTIVE</b>To investigate the relationship between complex 1311 mutation of C-->T in exon 11 and 93 T-->C in intron 11 of G6PD gene and the G6PD deficiency.</p><p><b>METHODS</b>Using NBT paper strip method to screen and quantitative NBT method to confirm G6PD deficiency. PCR-SSCP technique was used to find the abnormal exon 11 and the amplification refractory mutation system (ARMS) to identify 1311 mutation, and DNA sequencing to identify the complex mutation at 1311 in exon 11 and 93 in intron 11.</p><p><b>RESULTS</b>Abnormal band in exon 11 was found in 12 cases. DNA sequencing showed that they were 1311 mutation together with 93 mutation.</p><p><b>CONCLUSION</b>This complex mutation may be the cause of reduced activity of G6PD enzyme.</p>
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Humains , Séquence nucléotidique , Analyse de mutations d'ADN , Exons , Génétique , Dépistage génétique , Glucose 6-phosphate dehydrogenase , Génétique , Déficit en glucose-6-phosphate-déshydrogénase , Diagnostic , Génétique , Introns , Génétique , Données de séquences moléculaires , Mutation ponctuelle , Réaction de polymérisation en chaîne , Polymorphisme de nucléotide simple , Polymorphisme de conformation simple brinRésumé
There is a high prevalence of thalassemia in the South of China. To explore the genotype of alpha-thalassemia as well as the distribution of alpha globin gene mutation in the South of China, 356 patients with heterozygote alpha(+) thalassemia, heterozygote alpha(0) or homozygote alpha(+) thalassemia and 78 patients with HbH were analyzed. The gene diagnosis methods including Gap-PCR, nested-PCR, PCR-RE, PCR-SSCP, 4P-ASPCR and DNA sequence analysis were used. The results showed that among 356 patients, 295 patients with --SEA/alphaalpha (82.87%), 1 patient with alphaalpha/alpha-alpha(3.7) (0.28%), 3 patients with alphaalpha/alpha-alpha(4.2) (0.84%), 3 patients with alphaalpha/alpha(CS)alpha (0.84%), 1 patient with alphaalpha/alphaalpha(QS) (0.28%) and 2 patients with alphaalpha/alpha(Westmead) alpha (0.56%) were found. The homozygote with -alpha(4.2) or -alpha(3.7) was not found. In 78 patients with HbH, 29 patients with --SEA/alphaalpha(-3.7) (37.2%), 20 patients with --SEA/alphaalpha(-4.2) (25.6%), 19 patients with --SEA/alphaalpha(CS) (24.3%), 2 patients with --SEA/alphaalpha(QS) (2.6%) were detected, and other remaiming 8 patients were needed to be defined. Among the non-defined 8 patients, the synonymous mutation with C-->G transversion (GCC-GCG) at codon 65 in the exon 2 of alpha 2-globin gene was detected in 2 unrelated HbH patients came from Guangxi province. Whether it correlated with the phenotype of HbH disease or it is only a single nucleotide polymorphism site (SNPs), should be confirmed in the future. In addition, a set of gene diagnosis methods based on PCR to screen deletion and non-deletion genotypes of alpha-thalassemia in Chinese was improved. A new method, 4P-ASPCR, to detect Hb CS and Hb QS was also developed. The method was verified to be more accurate, time-saving and economic. In conclusion, the genotypes of alpha-thalassemia in Chinese are very complicated, the genotypes of alpha-thalassemia in Chinese need to be further studied, the results of this research probably have practical significance for the gene diagnosis or antenatal diagnosis of alpha-thalassemia in the South of China.