OBJECTIVE: Mitochondrial deoxyribonucleic acid (mtDNA) 8344 A>G (m.8344A>G) mutation is the common mutation associated with mitochondrial myoclonus epilepsy with ragged-red fibers (MERRF) syndrome. Herein we report a rare case with mitochondrial encephalopathy, lactic acidosis and stroke-like episodes/MERRF/Leigh (MELAS/MERRF/Leigh) overlap syndrome caused by m.8344A>G mutation. METHODS: The clinical and imaging data of the patient were collected and an open muscle biopsy was carried out. We further employed molecular genetic analyses to detect mtDNA mutation in the proband and his mother. And then a clinical and neuroimaging follow-up was performed. RESULTS: This patient was a 25-year-old male, who developed exercise intolerance since the age of 6. At age 10, he suffered from acute episodes of hemianopia, and cranial magnetic resonance imaging (MRI) showed occipital stroke-like lesions and cranial magnetic resonance spectroscopy (MRS) revealed a lactate peak corresponding to the lesion. After that the patient presented slowly progressive psychomotor decline. He had myoclonic seizures and cerebellar ataxia since the age of 12. At age 21, he was admitted to our hospital because of confusion and cranial MRI revealed symmetrical lesions in bilateral posterior putamen, thalami and midbrain. Then repeated MRI showed progression of original lesions and new frontal multiple stroke-like lesions. Symptomatic and rehabilitation treatment relieved his condition. Follow-up cranial MRI at age 24 showed the lesions in basal ganglia and thalami diminished, and the midbrain lesions even completely vanished. Muscle pathology indicated the presence of numerous scattered ragged-red fibers (RRF), suggestive of a mitochondrial disorder. Polymerase chain reaction-restricted fragment length polymorphism (PCR-RFLP) detected the m.8344A>G mutation of the MT-TK gene encoding mitochondrial transfer RNA for lysine in the patient's blood. Next generation sequencing (NGS) of the whole mitochondrial genome identified that the proportion of m.8344A>G was 90%, and no other mtDNA mutation was detected. Sanger sequencing further identified this mutation both in the proband and his mother's blood, although the mutation load was much lower in his mother's blood with approximately 10% heteroplasmy. CONCLUSION The present study is the first to describe a patient with m.8344A>G mutation in association with the MELAS/MERRF/Leigh overlap syndrome, which expands the phenotypic spectrum of the m.8344A>G mutation.
Acidosis, Lactic ; Adult ; Child ; DNA, Mitochondrial/genetics* ; Humans ; Male ; Mitochondrial Encephalomyopathies ; Mutation ; Stroke ; Young Adult

Objective To observe the changes of soluble L-selectin(sL-selectin) concentrations in children with viral encephalitis(VE) and probe its significance in pathogenesy and clinic.Methods Selecting 30 children with VE,including 14 mild case and 16 severe case.Collecting their venous blood and cerebrospinal fluid(CSF) in acute and recovery stage.Using double antibody sandwich enzyme-linked immunosorbent assay(ELISA) method to measure sL-selectin concentrations of serum and CSF and comparing with control group,respectively.Results SL-selectin concentrations from serum and CSF in the acute stage were significantly higher than those of control group(all P0.05).Conclusions L-selectin may participate in the pathologic course in VE.The concentrations of sL-selectin from serum and CSF are related with the patients′ condition and it has important reference value in judging patients′ condition,assessing their prognose and guiding clinical treatment.

Objective To evaluate the effect of different nebulization inhalation methods on blood oxygen degree of saturation(SaO2) in infants with asthma.Methods Sixty-two infants with asthma were randomly assigned into 3 groups: air-high-frequency flow stonized inhalation group(n=22),oxygen-high-frequency flow stonized inhalationthe group(n=20) and ultrason jet nebulization group(n=18).Three groups all were gived budesonide suspl.SaO2 was monitored during nubulization.Results There were significant differences of SaO2 levels between oxygen-high-frequency flow stonized inhalationthe group and air-high-frequency flow stonized inhalationthe group,ultrason jet ne-bulization group after 10 min and during inhalation(Pa

Although previous reports showed drug-eluting stent (DES) could effectively inhibit neointima formation, in-stent restenosis (ISR) remains an important obstacle. The purpose of this study was to investigate different effects of paclitaxel on proliferation and cell cycle regulators between vascular smooth muscle cells (VSMCs) and vascular endothelial cells (VECs) of rats in vitro. The cultured VSMCs and VECs of rats from the same tissues were examined by using immunohistochemistry, flow cytometry and Western blotting in control and paclitaxel-treated groups. The results showed paclitaxel could effectively inhibit proliferation of VSMCs and VECs. However, as compared with VECs, proliferation of VSMCs in paclitaxel-treated group decreased less rapidly. The percentage of cells in G0-G1 and G2-M phases was reduced, and that in S phase increased after treatment for 72 h. The expression of cyclin D1 and B1, p27 and PCNA in VSMCs of paclitaxel-treated group was up-regulated, but that of p21 down-regulated as compared with VECs. It is concluded that there are significant differences in the expression of cell cycle regulators and proliferation rate between paclitaxel-treated VSMCs and paclitaxel-treated VECs, suggesting that the G1-S checkpoint regulated by paclitaxel may play a critical role in the development of complications of DES, which provides new strategies for treatments of ISR.

RhoA, a small GTPase, is involved in a wide array of cellular functions in the central nervous system, such as cell motility, cytoskeleton rearrangement, transcriptional regulation, phagocytosis and cell growth. It is not known how spinal cord injury (SCI) affects the expression of RhoA in different nerve cells. In the present study, we investigated the changes of RhoA expression in remote areas of the injury at the 3rd, 7th and 30th day after SCI, which was established by T10 contusion method. Moreover, we examine its expression profile in neurons, astrocytes and microglia. RhoA was found to be weakly expressed in these nerve cells in normal spinal cord. Western blotting showed that, after SCI, the total RhoA expression was up-regulated, and the RhoA expression was increased and peaked at the 7th day. Double immunostaining revealed specific and temporal expression patterns of RhoA in different nerve cells. The expression of RhoA in neurons started to increase at day 3, peaked at day 7 and then decreased slightly at day 30. Expression of RhoA in astrocytes increased moderately after SCI and peaked at day 7. There was no obvious change in RhoA expression in microglia after SCI in remote areas. This study demonstrated that, after SCI, RhoA expression exhibited different patterns with different nerve cells of spinal cord. RhoA expression patterns also changed with time after SCI, and among different nerve cells in the injured spinal cord. These findings can help us better understand the roles of RhoA in SCI.

The purpose of the study is to find the allergic reaction types and characteristics of Chinese medicine injection ( CMI). The authors monitored patients who used Shuxuetong injection, Dengzhan Xixin injection, Shenqi Fuzheng injection, Shenmai injection, Ciwujia injection, Shuxuening injection, Tanreqing injection, Reduning injection, a total of 150,000 cases were monitored. They used a nested case-control design to group the patients and obtained the serum samples from 14 allergic patients and 55 matched patients. They used enzyme-linked immunosorbent assay (ELISA) to detect serum C3, C4, IgE, IgG, MCT-P, and judge the allergic reaction types: Shuxuetong injection hypersensitivity (1 case), can not determine (1 case); Dengzhan Xixin injection hypersensitivity (1 case), hypersensitivity & anaphylactoid reaction (1 case), can not determine (1 case); Shenqi Fuzheng injection hypersensitivity (3 cases), can not determine (1 case); Shenmai injection anaphylactoid reaction (1 case); Ciwujia injection can not determine (1 case), Shuxuening injection can not determine (1 case), Tanreqing injection can not determine (1 case), Reduning injection can not determine (1 case). The results showed that the main type of allergic reaction of CMI was hypersensitivity, the type of allergic reaction was closely related to the varieties of CMI, the hypersensitivity and anaphylactoid reaction might occur in one patient at the same time which used Dengzhan Xixin injection.
Drug Hypersensitivity ; etiology ; Drugs, Chinese Herbal ; adverse effects ; Humans ; Immune System ; drug effects ; Injections

From the hospital information system (HIS) of 20 national grade III-A general hospitals, 2 960 cases of herpes zoster as the research object, analyzes the relations between the general information, syndrome of traditional Chinese medicine (TCM), western medicine combined diseases, the relationship between the solar term and the incidence of herpes zoster, and the combined use of Chinese and western medicine. Among the patients with 46-65 year old has the highest percentage of diseased; admission to general outpatient clinic is the most; the most common medical payment is medicare; combined disease such as hypertension, diabetes and coronary heart disease is more common; early treatment effect of herpes zoster is better than the sequelae; summer and autumn solar term patients is hospitalized more, TCM syndrome is damp heat of liver fire; about drugs, western medicine is the most commonly used vitamin B1 and mecobalamin, traditional Chinese medicine is the most frequently used Danhong injection, combination therapy with promoting blood circulation drugs and neurotrophic drugs. Thus, herpes zoster, more common in elderly patients, with no obvious relationship between solar term, should be early diagnosis and early treatment, often with combination of Chinese traditional and western medicine treatment.
Adolescent ; Adult ; Aged ; Aged, 80 and over ; Drugs, Chinese Herbal ; therapeutic use ; Female ; Herpes Zoster ; diagnosis ; drug therapy ; epidemiology ; Humans ; Male ; Medicine, Chinese Traditional ; methods ; Middle Aged ; Thiamine ; therapeutic use ; Vitamin B 12 ; analogs & derivatives ; therapeutic use ; Young Adult

The chemical structures of P1 A was identified by complete acid hydrolysis, partial acid hydrolysis, periodate oxidation-Smith degradation, methylation analysis, IR and NMR. The results showed that P1 A had a backbone consisting rhamnose, mannose, glucose and galactose. The side chain possessed arabinose and xylose. 1-->, 1-->6 and non-reducing terminal linkages existed in polysaccharide P1A, but there are doubling amount of 1-->2 and 1-->4 linkages. Oxidable linkage of P1 A accounted for 45%, and inoxidable linkage of P1A accounted for 55%. Mannose, glucose and galactose were mainly linked by 1-->2 linkage. Rhamnose, arabinose and xylose were mainly linked by 1-->2 and 1-->4 linkages. PlA contained beta-Glc(1,6)-,beta-Gal(1,3)-,beta-Man(1,4)-beta-Rha,-Glc(1,4)-, Glc(1)-,-Gal(1,4)- and Man(1)-.
Acanthaceae ; chemistry ; Drugs, Chinese Herbal ; chemistry ; Magnetic Resonance Spectroscopy ; Molecular Structure ; Molecular Weight ; Polysaccharides ; chemistry

Objective To evaluate the effect of PTH gene polymorphisms on bone mineral density (BMD) at multiple skeletal sites in normal females.Methods PTH gene phenotype was determined by PCR-RFLP of restriction enzyme Bst BⅠin 596 females aged (46.3?13.7) years (20-80 years),and PCR products with or without enzymolytic site were considered as genotype B or genotype b respectively.BMDs of the anteropesterior spine (AP) and supine lateral spine (Lat) of lumbar vertebrae (L_1-L_4),femoral neck (FN),total hip (T-hip), Ward's triangle (Ward),Trochanter (Troch),forearm [radius+ulna ultradistal (RUUD) and total area of radius + ulna (RUT) ] were measured by DEXA (QDR4500A).Results (1) Hardy-Weinberg equilibrium was evident for PTH polymorphisms.The frequencies of genotype were BB 0.784,Bb 0.208,bb 0.008 and frequencies of alleles B,b were 0.888 and 0.112 respectively in 596 normal females.Frequencies of BB,Bb,bb genotypes were 0.781,0.210,and 0.009 respectively in 347 postmenopausal women and their frequencies of alleles B,b were 0.886,0.114.No significant difference was found between post- and premenopausal women in genotype frequen- cy.(2) Comparing their BMDs of AP,Lat,FN,T-hip,Ward,Troch,RUUD and RUT,there was no significant difference between BB and Bb genotypes of pre- and postmenopansal women groups.(3) Logistic regression analysis failed to show any statistical difference between normal and osteoporosis women with regard to PTH phenotype.Conclusion PTH gene polymorphism has little effect on BMD in normal females.

OBJECTIVETo investigate the changes of blood corpuscles of patients with severe acute respiratory syndrome (SARS) in Beijing.

METHODSTotally 43 patients (21 male and 22 female, 19-74 years old age range) diagnosed as of probable SARS were included in this study. Their corpuscles in the peripheral blood were tested every two days, and the results were analyzed.

RESULTSPatients with SARS were more likely to develop leukocytopenia, lymphopenia and thrombocytopenia in the early period of disease than those in control group. The situation, especially lymphopenia and thrombocytopenia, could not be reversed in patients who died. Persistent low counts of lymphocytes and platelets at presentation might be associated with adverse outcomes.

CONCLUSIONLow counts of leukocytes, lymphocytes and platelets were common among patients in the early stage of SARS. Persistent Lymphopenia and thrombocytopenia may be associated with the prognosis.

Adult ; Aged ; Early Diagnosis ; Female ; Humans ; Leukocyte Count ; Leukocytes ; cytology ; Male ; Middle Aged ; Prognosis ; Severe Acute Respiratory Syndrome ; diagnosis