Cardiac Resynchronization Therapy ; Humans ; Sex Factors ; Treatment Outcome

Cardiac Resynchronization Therapy ; Heart Failure ; therapy ; Humans

A solution with different Cu supply levels was cultured to investigate gama-aminobutyric acid (GABA) accumulation in Elsholtzia splendens, a native Chinese Cu-tolerant and accumulating plant species. Increasing Cu from 0.25 to 500 micromol/L significantly enhanced levels of GABA and histidine (His), but considerably decreased levels of aspartate (Asp) and glutamate (Glu) in the leaves. The leaf Asp level negatively correlated with leaf Cu level, while leaf GABA level positively correlated with leaf Cu level. The leaf Glu level negatively correlated with leaf GABA level in Elsholtzia splendens. The depletion of leaf Glu may be related to the enhanced synthesis of leaf GABA under Cu stress.
Copper ; toxicity ; Dose-Response Relationship, Drug ; Drug Tolerance ; physiology ; Gene Expression Regulation ; drug effects ; Lamiaceae ; drug effects ; metabolism ; Plant Leaves ; drug effects ; metabolism ; gamma-Aminobutyric Acid ; metabolism

Objective To evaluate the metabolic characteristics of insulin secretion and insulin sensitivity in isolated postchallenge hyperglycemia(IPH) and to clarify the factors responsible for the development of IPH. Methods(Eight hundred) and fifty subjects were classified into the following three groups based on the results of a 75-g oral glucose tolerance test(OGTT): normal glucose tolerance(NGT),n=557;isolated impaired glucose tolerance(iIGT),n=146;and IPH,n=147.Insulin secretion(insulinogenic index) and insulin sensitivity(insulin sensitivity index) were identified in the three groups. Results From NGT to iIGT and IPH in these subjects,the insulinogenic index and insulin sensitivity index were gradually decreased(P

In order to identify Peucedani Radix, Peucedani Decursivi Radix and their adulterants, the internal transcribed spacer 2 (ITS2) regions of Peucedani Radix, Peucedani Decursivi Radix and their adulterants were amplified and bidirectionally sequenced based on the Principles for Molecular Identification of Traditional Chinese Materia Medica Using DNA Barcoding, which has been promulgated by Chinese Pharmacopoeia Commission. Sequences were analyzed and assembled by Codon Code Aligner V3. 7.1. The relevant data were analyzed by MEGA 5. 0. Species identification analyses were performed by using the nearest distance methods and neighbor-joining (NJ) methods. The result showed that the ITS2 sequence lengths of Peucedani Radix were 229-230 bp and the average intra-specific genetic distances were 0.005. The ITS2 sequence lengths of Peucedani Decursivi Radix were 227 bp and the sequences contained no variation site. The average inter-specific K2P genetic distance of Peucedani Radix, Peucedani Decursivi Radix and their adulterants species were 0.044 and 0.065 respectively. The minimum inter-specific divergence is larger than the maximum intra-specific divergence of Peucedani Decursivi Radix. The nearest distance methods and NJ trees results indicated that Peucedani Radix, Peucedani Decursivi Radix and their adulterants species could be identification clearly. The ITS2 regions can stably and accurately distinguish Peucedani Radix, Peucedani Decursivi Radix and their adulterants.
Apiaceae ; classification ; genetics ; DNA Barcoding, Taxonomic ; methods ; DNA, Ribosomal Spacer ; Drug Contamination

OBJECTIVETo establish an HPLC fingerprint to evaluate the quality of Polygalae Radix, root xylem, and those collected in different growth ages or harvest time.

METHODSeparation was performed at 30 °C on a Kromasil C18 column (4.6 mm x 250 mm, 5 μm); the mobile phases was acetonitrile and 0.05% H3PO4 water in the gradient elution; the flow rate was set at 1.0 mL · min(-1) and the detection wavelength at 314 nm; the quality discriminant analyses were accomplished by means of similarity analysis, cluster analysis, principal component analysis and neural network model.

RESULTIn 26 batches of Polygalae Radix, 24 batches fingerprint similarities were above 0.8. In 5 different growth or harvest time batches, 4 batches were above 0.8; in 8 batches root xylem samples, the similarities were all above 0.875. The similarity analysis was in accord with the quality discriminant analysis of cluster analysis, principal component analysis and neural network model.

CONCLUSIONFingerprint combined with chemical pattern recognition technique can effectively evaluate the quality of Polygalae Radix. The active substance species are all similar in cultivated, wild, different growth or harvest time Polygalae Radix and polygala root xylem, but the chromatography peak areas are different. The effective material contents are similar between wild and cultivated Polygalae Radix, but each chromatographic peak area of the root xylem is much smaller than that of Polygalae Radix. The chemical substance accumulation mainly depends on harvest month, but little growth time in Polygalae Radix.

Chromatography, High Pressure Liquid ; methods ; Drugs, Chinese Herbal ; chemistry ; Plant Roots ; chemistry ; classification ; Polygala ; chemistry ; classification ; Quality Control

An extended 5-generation family has been investigated in which 32 of the 111 family members were diagnosed as having retinitis pigmentosa (RP). The proband was a 58-year old male in whom night-blindness was first observed in early childhood, with almost loss of vision by 52 years of age. The symptoms observed in other family members included night-blindness, impaired vision and visual field loss. Dementia, digital abnormalities, deaf-mutism and mental retardation were variously diagnosed in a number of individuals with RP. The affected and unaffected family members were tested for mutations in a range of candidate genes. The 8 exons of three candidate genes have been analyzed by polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) and DNA sequencing techniques. A novel mutation was identified in the rhodopsin gene at codon 52 of exon 1 (TTC-TAC) that resulted in a substitution of Phe to Tyr.
DNA Mutational Analysis ; Family Health ; *Genes, Dominant/genetics ; Pedigree ; *Point Mutation ; Polymerase Chain Reaction ; Polymorphism, Single-Stranded Conformational ; Retinitis Pigmentosa/*genetics ; Sequence Analysis, DNA

In order to investigate the relationship between sex dysplasia and sex-determining region Y (SRY) gene, 8 patients with sexual abnormality were analyzed by cytogenetic and molecular genetic methods. Fluorescence in situ hybridization (FISH) using PY3.4, X alpha satellite, and SRY probes was performed in each case to analyze the sex chromosome translocation and gene translocation. SRY gene was amplified by polymerase chain reaction (PCR) and its mutation was detected by direct sequencing. The results showed that among 8 patients, 5 were positive for SRY and the remaining negative for SRY. In the patients positive for SRY genes, 3 presented testes and the left 2 streak ovaries. In the patients negative for SRY, only one case presented testes, while 2 ovaries. Direct sequencing demonstrated that all SRY genes were normal in the patients positive for SRY genes. FISH technique demonstrated that SRY genes translocated from Ypter to Xpter in 2 46,XX phenotypic males positive for SRY genes. It was concluded that SRY gene is strongly involved in male sex determination, while a sequence of other genes may be taken into account in sexual development.
Genes, sry/*genetics ; Gonadal Dysgenesis, 46,XX/genetics ; Gonadal Dysgenesis, 46,XY/genetics ; Sex Chromosome Disorders/*genetics ; Sex-Determining Region Y Protein/*genetics

Background Congenital fibrosis of extraocular muscles (CFEOM) affects patient' s appearance and quality of life,and no effective treatment for this disease is available.Imaging study is helpful for exploring the pathogenesis of CFEOM.Objective This study was to describe the characteristics of CFEOM associated with limb movement disorder using magnetic resonance imaging (MRI).Methods A family with CFEOM associated with limb movement disorder was investigated in Renmin Hospital of Wuhan University.Disease history was collected and the pedigree was investigated.Ophthalmologic examinations,including corrected visual acuity,refractive error,slitlamp examination,ophthalmoscopic examination,force of levator palpebrae superioris,ocular movement,eye position,forced duction test,and bell phenomenon examination,were performed.Ocular orbital and cranial MRI was performed in 4 CFEOM patients and 10 normal subjects to compare the structures of the extraocular muscles,motor nerve and cranium.Oral informed consent was obtained from each patient prior to any medical examination.Results A total of 1 1 members from 3 generations were investigated in this study,presenting with 4 cases of disease.The mode of inheritance of this family complied with the Mendelian autosomal dominant inheritance law.Clinical signs included disturbance of eye movement,deviation of eye position,ptosis,lack of Bell sign and positive reaction of passive pull test.In addition,unstable gait,improper body limb alignment,dysphasia and mental retardation were ohserved in 1 patient,which coincided with the diagnostic criteria of type 3 CFEOM.MRI results demonstrated that the levator palpebrae superioris,superior rectus and superior oblique muscle were clearly thinner,and the medial rectus,lateral rectus,inferior rectus muscle were thinning in the patients,showing significant differences in comparison with the normal controls(P＜O.05).The oculomotor and abducens nerves became thinner and even absent in the patients.Cranial MRI showed that Ⅲ-3 in the pedigree with callosum was shorter than that of the normal controls,suggesting that patient suffered from corpus callosum hypoplasia.Meanwhile,cranial MRI indicated the presence of cerebellar hypoplasia and the expansion of the fourth ventricle.Conclusions MRI demonstrates consistent abnormalities of the oculomotor nerves and abducens nerves in the affected individuals in this CFEOM 3 family,and some affected members exhibit two types of central nervous system abnormalities-corpus callosum and cerebellar hypoplasia.These findings suggest that CFEOM 3 is primarily a neuronal disease.

OBJECTIVETo investigate the roles of nitric oxide (NO) and eNOS in the pathogenesis of vasovagal syncope (VVS).

METHODSFourteen children with VVS (group A), 10 children with syncope other than vasovagal (group B) and 20 healthy volunteers (group C) were enrolled. Plasma NO levels in groups A and B were determined before and at the termination of the head-up tilt table test (HUT). The G894T polymorphism within the eNOS gene was determined in the three groups.

RESULTSPlasma NO levels in group A increased significantly when syncope attacked from 76.7+/-9.6 micromol/L (before HUT) to 90.0+/-11.4 micromol/L (P<0.05). After the syncope attack was improved, plasma NO level in group A was significantly reduced. There were no statistical differences in plasma NO levels before and after the HUT in group B. Determining the G894T polymorphism within the eNOS gene showed that group A was associated with a higher incidence of the GT gene type as compared to groups B and C (42.9% vs 10%; P<0.05).

CONCLUSIONSPlasma NO may be involved in the pathogenesis of VVS. The increased plasma NO level may be associated with the G894T polymorphism of the eNOS gene.

Child ; Humans ; Nitric Oxide ; blood ; physiology ; Nitric Oxide Synthase Type III ; genetics ; physiology ; Polymorphism, Genetic ; Syncope, Vasovagal ; etiology