BACKGROUNDCubital tunnel syndrome is a well-recognized clinical condition and is the second most common peripheral compression neuropathy. This study was designed to investigate the causes of cubital tunnel syndrome by surgical means and to assess the clinical value of the neurophysiological diagnosis of cubital tunnel syndrome.

METHODSTwenty-one patients (involving a total of 22 limbs from 16 men and 5 women, aged 22 to 63, with a mean age of 49 years) with clinical symptoms and signs indicating a problem with their ulnar nerve underwent motor conduction velocity examinations at different sites along the ulnar nerve and examinations of sensory conduction velocity in the hand, before undergoing anterior transposition of the ulnar nerve.

RESULTSElectromyographic abnormalities were seen in 21 of 22 limbs [motor nerve conduction velocity (MCV) range (15.9 - 47.5) m/s, mean 32.7 m/s] who underwent motor conduction velocity examinations across the elbow segment of the ulnar nerve. Reduced velocity was observed in 13 of 22 limbs [MCV (15.7 - 59.6) m/s, mean 40.4 m/s] undergoing MCV tests in the forearms. An absent or abnormal sensory nerve action potential following stimulation was detected in the little finger of 14 of 22 limbs. The factors responsible for ulnar compression based on observations made during surgery were as follows: 15 cases involved compression by arcuate ligaments, muscle tendons, or bone hyperplasia; 2 involved fibrous adhesion; 3 involved compression by the venous plexus or a concurrent thick vein; 2 involved compression by cysts.

CONCLUSIONSFactors inducing cubital tunnel syndrome include both common factors that have been reported and rare factors, involving the venous plexus, thick veins, and cysts. Tests of motor conduction velocity at different sites along the ulnar nerve should be helpful in diagnosis cubital tunnel syndrome, especially MCV tests indicating decreased velocity across the elbow segment of the ulnar nerve.

Adult ; Cubital Tunnel Syndrome ; etiology ; physiopathology ; surgery ; Electromyography ; Evoked Potentials, Motor ; Evoked Potentials, Somatosensory ; Female ; Humans ; Male ; Middle Aged

Objective To examine the effects of genistein ( GST ) on the discharges of neurons in CA1 area of hippocampal slices. Results (1) In response to the application of GST (10, 50, 100 μmol/L; n=48) into the perfusate for 2 min, the spontaneous discharge rates (SDR) of 46/48 ( 95.83 % ) neurons were significantly decreased in a dose-dependent manner. (2) In 9 neurons, the G protein-coupled inwardly rectifying K+ (GIRK) channels antagonist, tetraethylammonium ( TEA 1mmol/L ) completely blocked the inhibitory effect of GST (50 μmol/L). (3) Application of nitric oxide synthase ( NOS ) inhibitor NG-nitro-L-arginine methyl ester ( L-NAME, 50 μmol/L ) into the perfusate for 2 min significantly augmented the SDR of 9/10( 90.0% ) neurons , then GST ( 50 μmol/L ) applied into the perfusate reduced the increased SDR of all 9/9 ( 100% ) neurons. (4) Pretreatment with L-glutamate ( L-Glu, 0.2 mmol/L ) led to a marked increase in the SDR of all 11 ( 100% ) neurons in an epileptiform pattern. The increased discharges were also suppressed significantly after GST (50 μmol/L) was applied into the perfusate for 2 min. Conclusion GST can inhibit the electrical activity of CA1 neurons. The inhibitory effect may be related to the activation of GIRK which induce K+ outward current and then engender the cell membrane hyperpolarization, and to the increased production of NO increase,which indicated that GST play a protective role on the central neurons.

Asian Continental Ancestry Group ; Child ; Child, Preschool ; Humans ; Male ; Retinoschisis ; genetics ; pathology

OBJECTIVETo compare different expression profiles of all known chemokine receptors in human hepatocellular carcinoma (HCC) cell lines with different metastasis potentials.

METHODSEighteen pairs of chemokine receptor primers were designed using Premier software. Expression profiles of the 18 chemokine receptors on four HCC cell lines of lower to higher potentials of metastasis (SMMC-7721, MHCC97-L, MHCC97-H and HCCLM6) were analyzed by RT-PCR. Expression of CXCR4 was detected by RT-PCR.

RESULTSExpression profiles of chemokine receptors on four HCC cell lines with different metastatic potentials had significant differences (P < 0.01), in which CCR10, CXCR4 and CXCR6 expressions decreased gradually as the metastatic potential of the cell lines increased. The expressions of CCR3, CCR4, CCR10, CCR12 and XCR1 on HCCLM6 were significantly reduced compared with SMMC-7721 (P < 0.01), whereas the expressions of CXCR1 (P = 0.006) and CXCR5 (P = 0.003) exceeded that of SMMC-7721. Except for CXCR2, CXCR6 and XCR1, most of chemokine receptors on MHCC97-H were expressed differently compared with MHCC97-L (P < 0.05), in which expressions of CCR1 (P = 0.002), CCR2 (P = 0.004) and CCR5 (P = 0.046) exceeded MHCC97-L. CXCR4 was detected only on the positive controls and SMMC-7721 when the template of total RNA was reduced one-half in RT-PCR.

CONCLUSIONChemokine receptors are expressed very differently at mRNA level on HCC cell lines with different metastatic potentials. The different profiles of chemokine receptors in tumor microenvironment and the function of CXCR4 in HCC should be further studied. Our findings have important implications in understanding the relationship between chemokine receptors and the metastatic potential of HCC.

Carcinoma, Hepatocellular ; metabolism ; pathology ; Cell Line, Tumor ; Humans ; Liver Neoplasms ; metabolism ; pathology ; RNA, Messenger ; genetics ; Receptors, Chemokine ; metabolism

Adult ; Aged ; Hemospermia ; diagnostic imaging ; therapy ; Humans ; Male ; Middle Aged ; Punctures ; Rectum ; diagnostic imaging ; Seminal Vesicles ; Therapeutic Irrigation ; Ultrasonography

OBJECTIVETo study the central role of ginkgolide B (BN52021) in regulating cardiovascular function of nerve center by examining the effects of ginkgolide B on the electrical activity of rat paraventricular nucleus (PVN) neurons in hypothalamic slice preparation and to elucidate the mechanism involved.

METHODSExtracellular single-unit discharge recording technique.

RESULTS(1) In response to the application of ginkgolide B (0.1, 1, 10 micromol/L; n = 27) into the perfusate for 2 min, the spontaneous discharge rates (SDR) of 26 (26/27, 96.30%) neurons were significantly decreased in a dose-dependent manner. (2) Pretreatment with L-glutamate (L-Glu, 0.2 mmol/L) led to a marked increase in the SDR of all 8 (100%) neurons in an epileptiform pattern. The increased discharges were suppressed significantly after ginkgolide B (1 micromol/L) was applied into the perfusate for 2 min. (3) In 8 neurons, perfusion of the selective L-type calcium channel agonist, Bay K 8644 (0.1 micromol/L), induced a significant increase in the discharge rates of 8 (8/8, 100%) neurons, while ginkgolide B (1 micromol/L) applied into the perfusate, could inhibit the discharges of 8 (100%) neurons. (4) In 8 neurons, the broad potassium channels blocker, tetraethylammonium (TEA, 1 mmol/L) completely blocked the inhibitory effect of ginkgolide B (1 micromol/L).

CONCLUSIONThese results suggest that ginkgolide B can inhibit the electrical activity of paraventricular neurons. The inhibitory effect may be related to the blockade of L-type voltage-activated calcium channel and potentially concerned with delayed rectifier potassium channel (K(DR)).

3-Pyridinecarboxylic acid, 1,4-dihydro-2,6-dimethyl-5-nitro-4-(2-(trifluoromethyl)phenyl)-, Methyl ester ; pharmacology ; Action Potentials ; drug effects ; Analysis of Variance ; Animals ; Animals, Newborn ; Calcium Channel Agonists ; pharmacology ; Dose-Response Relationship, Drug ; Drug Interactions ; Fibrinolytic Agents ; pharmacology ; Ginkgolides ; pharmacology ; Glutamic Acid ; pharmacology ; In Vitro Techniques ; Lactones ; pharmacology ; Neural Inhibition ; drug effects ; Neurons ; drug effects ; Paraventricular Hypothalamic Nucleus ; cytology ; Potassium Channel Blockers ; pharmacology ; Rats ; Rats, Sprague-Dawley ; Tetraethylammonium ; pharmacology

OBJECTIVERett syndrome (RTT) is a severe childhood neurodevelopmental disorder mainly affecting females. The pathogenic gene is located at Xq28, which codes for the methyl-CpG-binding protein 2. MECP2 gene is affected by X chromosome inactivation (XCI). The different XCI patterns of females could affect the expression ratios of pathogenic gene, causing changes in clinical symptoms. In order to understand the XCI patterns in RTT patients and the relationship between XCI pattern, genotype and phenotype, the XCI patterns in patients with RTT and their mothers, the parental origin of the priority inactive X chromosome in RTT, and the relations of XCI patterns with genotype and phenotype in RTT cases were analyzed.

METHODSGenomic DNA was extracted from peripheral blood of 55 cases with RTT (52 with MECP2 mutations, 3 without mutations), 53 mothers of RTT cases and 48 normal female controls. DNA was digested with methylation sensitive restriction endonuclease Hpa II. Then the undigested and digested DNAs were amplified via PCR for the first exon of human androgen receptor (AR) gene. PCR products were analyzed by Genescan.

RESULTSThe heterozygotic rates of AR gene were 82%, 77% and 83% in RTT patients, mothers and controls, respectively. XCI distribution pattern of RTT was different from that of the mothers and control, P < 0.05. More mothers and controls than RTT patients were in the area of XCI 50:50 - 59:41. The differences between them were statistically significant (P < 0.05). No significant difference in XCI distribution patterns between mothers and the control groups was found (P > 0.05). Non-random XCI rates in the areas of XCI >or= 65:35 and >or= 80:20 were 53.35% and 17.8%, respectively, in RTT patients, compared with the mothers group (36.6%, 7.3%) and control group (35%, 10%), it was higher in RTT patients, but the difference was not statistically significant (P > 0.05). In 18 of 21 cases with XCI >or= 65:35, the priority inactive X chromosome was of paternal origin (85.7%). Variable XCI patterns were observed in the same gene mutation patients. The highly skewed XCI as well as the random XCI were found in patients with mild, severe and typical phenotype. The rate of highly skewed XCI in atypical patients was higher than that in typical RTT patients. The rate of highly skewed XCI in T158M was higher than the other type mutations. No highly skewed XCI was observed in cases with R133C mutation.

CONCLUSIONThe XCI distribution pattern of RTT patients was different from that of RTT mother and control groups. There was no significant difference in XCI distribution patterns between mothers and the control groups. It was not a main genetic pattern in RTT that mothers as the carriers to transmit the pathogenic gene to the patients. Non-random XCI was not the main XCI pattern in RTT patients. The priority inactive X chromosome was mainly of paternal origin. XCI could modify the clinical phenotype of RTT, but had limitations in explaining all the phenotypes manifested in RTT cases.

Adolescent ; Adult ; Child ; Child, Preschool ; Chromosomes, Human, X ; genetics ; Female ; Genetic Predisposition to Disease ; Genotype ; Heterozygote ; Humans ; Mothers ; Mutation ; Phenotype ; Receptors, Androgen ; genetics ; Rett Syndrome ; diagnosis ; genetics ; X Chromosome Inactivation ; genetics

BACKGROUNDDiabetic neuropathy is common in diabetes mellitus. The early stage of diabetic neuropathy is often symptomless and difficult to be treated. The aim of this study was to assess the correlation between the results of the sympathetic skin response (SSR) test and the development of diabetic neuropathy, and explore the use of SSR as an objective basis for the early diagnosis of diabetic neuropathy.

METHODSThe latencies and amplitudes of initiation and of the N and P waves were determined by SSR testing of the extremities of 80 diabetic patients and 30 healthy controls.

RESULTSThe latencies of initiation and of the N and P waves were significantly (P <0.001) longer in diabetic patients than in the controls, while there was no significant difference in the amplitudes (P >0.05). All but two patients (97.5%) demonstrated abnormal SSR in at least one limb.

CONCLUSIONSSSR can detect early dysfunction of the small sympathetic fibers in people affected by diabetes mellitus, and may be a useful electrophysiological test for the early diagnosis of diabetic neuropathy.

Adult ; Aged ; Diabetic Neuropathies ; diagnosis ; physiopathology ; Female ; Humans ; Male ; Middle Aged ; Reaction Time ; Skin ; innervation ; Sympathetic Nervous System ; physiology

OBJECTIVERett syndrome (RTT) is a neurodevelopmental disorder occurring almost exclusively in females as sporadic cases due to de novo mutations in the methyl-CpG-binding protein 2 gene (MECP2). Familial cases of RTT are rare and are due to X-chromosomal inheritance from a carrier mother. Recently, DNA mutations in the MECP2 have been detected in approximately 84.7% of patients with RTT in China. To explain the sex-limited expression of RTT, it has been suggested that de novo X-linked mutations occur exclusively in male germ cells resulting therefore only in affected daughters. To test this hypothesis, we have analyzed the parental origin of mutations and the XCI status in 15 sporadic cases with RTT due to MECP2 molecular defects.

METHODSAllele-specific PCR was performed to amplify a fragment including the position of the mutation. The allele-specific PCR products were sequenced to determine which haplotype contained the mutation. It was then possible to determine the parent of origin by genotyping the single nucleotide polymorphism (SNP) in the parents. The degree of XCI and its direction relative to the X chromosome parent of origin were measured in DNA prepared from peripheral blood leucocytes by analyzing CAG repeat polymorphism in the androgen receptor gene (AR).

RESULTSExcept for 2 cases who had a frameshift mutation; all the remaining 13 cases had a C-->T transition mutation. Paternal origin has been determined in all cases with the C-->T transition mutation. For the two frameshift mutations, paternal origin has been determined in one case and maternal origin in the other. The frequency of male germ-line transmission in mutations is 93.3%. Except for 2 cases who were homozygotic at the AR locus, of the remaining 13 cases, 8 cases had a random XCI pattern; the other five cases had a skewed XCI pattern and they favor expression of the maternal origin allele.

CONCLUSIONDe novo mutations in sporadic RTT occur almost exclusively on the paternally derived X chromosome and that this is most probably the cause for the high female: male ratio observed in sporadic cases with RTT. Random XCI was the main XCI pattern in sporadic RTT patients. The priority inactive X chromosome was mainly of paternal origin.

Chromosome Aberrations ; Chromosomes, Human, X ; Female ; Humans ; Male ; Methyl-CpG-Binding Protein 2 ; genetics ; Mutation ; Polymorphism, Single Nucleotide ; Rett Syndrome ; genetics ; X Chromosome Inactivation

OBJECTIVERett syndrome (RTT, MIM 312750) is a progressive neurodevelopmental disorder that affects females almost exclusively, caused by mutations in MECP2 gene on chromosome Xq28, with symptoms such as autism, severe mental deficiency, deceleration of head growth, ataxia, loss of purposeful hand function and characteristic stereotypic hand movements. Over 80% MECP2 mutations located in the exon 3 and exon 4 were confirmed by our work and large-scale studies. RTT is defined based on clinical presentation. It is difficult to diagnose in the early life without definite biochemical abnormality, but genetic test is helpful for this. The aim of this study was to investigate the feasibility and clinical significance of applying long range polymerase chain reaction (PCR) to RTT diagnosis and establish a simple, economic, efficient method of genetic diagnosis.

METHODGenomic DNA was extracted using standard procedures from the peripheral blood leukocytes of each patient. Long range polymerase chain reaction(PCR)and DNA direct sequencing were employed to analyze the exon 3 and 4 of MECP2 gene simultaneity in 40 patients with RTT. The PCR products were checked by using 1.5% agarose gel.

RESULTIn total, 18 different MECP2 mutations were identified in 33 of the 40 diagnosed sporadic female patients with RTT. Missense mutations were 16, followed by 14 nonsense mutations and 3 deletions. The 314 base pairs large deletion was identified. The p. T158M mutation (21%, 7/33) was the most common, followed in order of frequency by p. R255X (12%, 4/33), p. R168X and p. R106W (9%, 3/33) respectively, p. R270X and p. Y141X (6%, 2/33) respectively, p. R133C, p. D156H, p. P157L, p. P225R, p. Q244X, p. Q262X, p. R294X, p. R306C, P322L, c. 1005del G, c.1005-1318del 314 bp and c.1127-1179del 53 bp (3%, 1/33), respectively.

CONCLUSIONLong range PCR is a simple, economic, quick, precise method of genetic diagnosis and was able to find 83% MECP2 gene mutations in RTT patients in this study. It is helpful for RTT clinical diagnosis in early stage. On the other hand, it may detect recurrent mutations and large deletions at the same time.

Child ; Child, Preschool ; DNA ; analysis ; Exons ; genetics ; Female ; Humans ; Methyl-CpG-Binding Protein 2 ; genetics ; Mutation ; Polymerase Chain Reaction ; methods ; Rett Syndrome ; diagnosis ; genetics