Two novel mutations of connexin genes in Chinese families with autosomal dominant congenital nuclear cataract.
Explore the source record for details and available documents.
Base Sequence↗
Biomedical subjects
J Zheng
Publications and source records attributed to J Zheng.
Cardiac magnetic resonance imaging abnormalities in systemic lupus erythematosus: a preliminary report.
The purpose of this prospective, pilot study was to determine whether differences in myocardial T2 relaxivity can be identified among active systemic lupus erythematosus (SLE) patients with clinically suspected SLE myocarditis, other active SLE patients, inactive SLE patients and age and gender matched controls. Eleven consecutive female patients (six with active SLE and five with inactive SLE), and five age, gender and race matched healthy controls underwent imaging with echocardiography and cardiac magnetic resonance imaging (MRI). Echocardiographic measurements included left ventricular end diastolic (LVEDV) and end systolic volumes (LVESV), and mass (LVM) (all indexed to body mass); ejection fraction and cardiac output. The cardiac MRI measurement was the T2 relaxation time (an index of soft tissue signal, with higher levels suggestive of increased tissue water content). Patients with active SLE had significantly higher LVEDV and LVM than inactive SLE patients and healthy controls, and significantly larger LVESV than healthy controls. Myocardial T2 relaxation times were significantly higher in patients with active SLE compared to those with inactive SLE and to healthy controls, and remained higher even after excluding the two active SLE patients who had clinical myocarditis. The four active SLE patients who underwent repeat cardiac imaging studies after clinical improvement showed normalization of these myocardial abnormalities. The conclusion was that active SLE patients demonstrate abnormalities in myocardial structure manifested by high myocardial T2 relaxation times that normalized after clinical improvement in disease activity. These findings suggest that T2 relaxation values are a sensitive indicator of myocardial disease in patients with SLE and that myocardial T2 relaxation abnormality frequently occur in patients with active SLE, even in the absence of myocardial involvement by clinical criteria.
Adult↗
Trigemino-cervical response in patients with amyotrophic lateral sclerosis.
PURPOSE: The trigemino-cervical response (TCR) was investigated in the patients with amyotrophic lateral sclerosis (ALS) to evaluate its effect for disclosing the bulbar involvement in this disorder. METHODS: We studied 100 normal subjects and 45 patients with ALS. In all normal subjects, stimulation of the infraorbital nerve on one side produced bilateral short latency waves, which consisted of a positive/negative wave described with the mean peak latency (P20/N30). The mean square root of the ratio between the amplitude of P20/N30 and the mean rectified surface EMG activity preceding the stimulus was described by A value. RESULTS: The latency of P20 in controls was 18.5 +/- 1.4 ms, N30 was 28.8 +/- 2.8 ms, and the A value was 1.6 +/- 0.5, respectively. In ALS patients, twelve showed absent, seventeen were delayed in the latencies, six were above normal asymmetry on two sides, and ten showed normal. The latency of P20 in ALS patients was 22.9 +/- 9.4 ms, N30 was 33.7 +/- 11.2 ms, and the A value was 1.5 +/- 0.8, respectively. The parameters of the latencies of TCR between ALS patients and the normal controls were statistically different (P < 0.05). CONCLUSIONS: TCR can be reliably measured in all normal subjects and help in disclosing lower brainstem lesions in ALS patients, even without bulbar symptoms.
Adolescent↗
Perfluorinated compounds in coastal waters of Hong Kong, South China, and Korea.
Perfluorinated compounds (PFCs), such as perfluorooctanesulfonate (PFOS) and related compounds, have recently been identified in the environment. PFOS, the terminal degradation product of many of the PFCs, has been found globally in many wildlife species, as well as open ocean waters, even in remote regions far from sources. In this study, a solid-phase extraction procedure coupled with high-performance liquid chromatography interfaced to high-resolution mass spectrometry was used to isolate, identify, and quantify small concentrations of PFCs in seawater. These techniques were applied to investigate the local sources of PFCs in several industrialized areas of Asia and provide information on how the PFCs are circulated by coastal currents. Ranges of concentrations of PFOS in coastal seawaters of Hong Kong, the Pearl River Delta, including the South China Sea, and Korea were 0.09-3.1, 0.02-12, and 0.04-730 pg/mL, respectively, while those of perfluorooctanoic acid (PFOA) were 0.73-5.5, 0.24-16, and 0.24-320 pg/mL, respectively. Potential sources of PFCs include major industrialized areas along the Pearl River Delta of southern China and major cities of Korea, which are several of the fastest growing industrial and economic regions in the world. Detectable concentrations of PFOS and PFOA in waters of southern China were similar to those in the coastal marine environment of Japan and certain regions in Korea. Concentrations of PFCs in several locations in Korean waters were 10-100-fold greater than those in the other locations on which we report here. The spatial and seasonal variations in PFC concentrations in surface seawaters in the Pearl River Delta and South China Sea indicate the strong influence of the Pearl River discharge on the magnitude and extent of PFC contamination in southern China. All of the concentrations of PFOS were less than those that would be expected to cause adverse effects to aquatic organisms or their predators except for one location in Korea adjacent to an industrialized area. Hazard quotients were from <0.001 to 0.002 for aquatic animals and ranged from <0.001 to 17 for predatory birds.
Alkanesulfonic Acids↗
High-energy electrons produced in subpicosecond laser-plasma interactions from subrelativistic laser intensities to relativistic intensities.
The characteristics of the forward hot electrons produced by subpicosecond laser-plasma interactions are studied for different laser polarizations at laser intensities from subrelativistic to relativistic. The peak of the hot electron beam produced by p-polarized laser beam shifts to the laser propagation direction from the target normal direction as the laser intensity reaches the relativistic. For s-polarized laser pulse, hot electrons are mainly directed to the laser axis direction. The temperature and the maximum energy of hot electrons are much higher than that expected by the empirical scaling law. The energy spectra of the hot electrons evolve to be a single-temperature structure at relativistic laser intensities from the two-temperature structure at subrelativistic intensities. For relativistic laser intensities, the forward hot electrons are less dependent on the laser polarization under the laser conditions. The existing of a preplasma formed by the laser amplified spontaneous emission pedestal plays an important role in the interaction. One-dimensional particle-in-cell simulations reproduce the most characteristics observed in the experiment.
Journal Article↗
Identification and molecular characterization of a novel y-type Glu-Dt 1 glutenin gene of Aegilops tauschii.
A novel y-type high-molecular-weight glutenin subunit possessing a slightly faster mobility than that of subunit 1Dy12 in SDS-PAGE, designated 1Dy12.1(t) in Aegilops tauschi, was identified by one- and two-dimensional gel and capillary electrophoresis. Its coding gene at the Glu-D(t) 1 locus was amplified with allele-specific-PCR primers, and the amplified products were cloned and sequenced. The complete nucleotide sequence of 2,807 bp containing an open reading frame of 1,950 bp and 857 bp of upstream sequence was obtained. A perfectly conserved enhancer sequence and the -300 element were present at positions of 209-246 bp and 424-447 bp upstream of the ATG start codon, respectively. The deduced mature protein of 1 Dy12.1(t) subunit comprised 648 amino acid residues and had a Mr of 67,518 Da, which is slightly smaller than the 1Dy12 (68,695 Da) but larger than the 1Dy10 (67,495 Da) subunits of bread wheat, respectively, and corresponds well with their relative mobilities when separated by acid-PAGE. The deduced amino acid sequence indicated that the 1Dy12.1(t) subunit displayed a greater similarity to the 1Dy10 subunit, with only seven amino acid substitutions, suggesting that this novel gene could have positive effect on bread-making quality. A phenetic tree produced by nucleotide sequences showed that the x- and y-type subunit genes were respectively clustered together and that the Glu-D(t) 1y12.1 gene of Ae. tauschii is closely related to other y-type subunit genes from the B and D genomes of hexaploid bread wheat.
Agriculture↗
Spontaneous basilar membrane oscillation and otoacoustic emission at 15 kHz in a guinea pig.
A spontaneous otoacoustic emission (SOAE) measured in the ear canal of a guinea pig was found to have a counterpart in spontaneous mechanical vibration of the basilar membrane (BM). A spontaneous 15-kHz BM velocity signal was measured from the 18-kHz tonotopic location and had a level close to that evoked by a 14-kHz, 15-dB SPL tone given to the ear. Lower-frequency pure-tone acoustic excitation was found to reduce the spontaneous BM oscillation (SBMO) while higher-frequency sound could entrain the SBMO. Octave-band noise centered near the emission frequency showed an increased narrow-band response in that frequency range. Applied pulses of current enhanced or suppressed the oscillation, depending on polarity of the current. The compound action potential (CAP) audiogram demonstrated a frequency-specific loss at 8 and 12 kHz in this animal. We conclude that a relatively high-frequency spontaneous oscillation of 15 kHz originated near the 15-kHz tonotopic place and appeared at the measured BM location as a mechanical oscillation. The oscillation gave rise to a SOAE in the ear canal. Electric current can modulate level and frequency of the otoacoustic emission in a pattern similar to that for the observed mechanical oscillation of the BM.
Acoustic Stimulation↗
Global pollution monitoring of butyltin compounds using skipjack tuna as a bioindicator.
Butyltin compounds (BTs) including mono- (MBT), di- (DBT), tri-butyltin (TBT) and total tin (sigmaSn), were determined in the liver of skipjack tuna (Katsuwonus pelamis) collected from Asian offshore waters (off-Japan, the Japan Sea, off-Taiwan, the East China Sea, the South China Sea, off-Philippines, off-Indonesia, the Bay of Bengal), off-Seychelles, off-Brazil and open seas (the North Pacific). BTs were detected in all the skipjack tuna collected, suggesting widespread contamination of BTs even in offshore waters and open seas on a global scale. Considering specific accumulation, Sex-, body length- differences and migration of skipjack tuna did not seem to affect BT concentrations, indicating rapid reflection of the pollution levels in seawater where and when they were collected. Skipjack tuna is a suitable bioindicator for monitoring the global distribution of BTs in offshore waters and open seas. High concentrations of BTs were observed in skipjack tuna from offshore waters around Japan, a highly developed and industrialized region (up to 400 ng/g wet weight). Moreover skipjack tuna collected from offshore waters around Asian developing countries also revealed the levels comparable to those in Japan (up to 270 ng/g wet weight) which may be due to the recent improvement in economic status in Asian developing countries. High percentages (almost 90%) of BTs in total tin (sigmaSn: sum of inorganic tin+organic tin) were found in the liver of skipjack tuna from offshore waters around Asian developing countries. This finding suggests that the anthropogenic BTs represent the major source of Sn accumulation in skipjack tuna from these regions.
Animals↗
A successful maintenance approach in inflammatory acne with adapalene gel 0.1% after an initial treatment in combination with clindamycin topical solution 1% or after monotherapy with clindamycin topical solution 1%.
BACKGROUND METHODS: A total of 300 acne subjects entered this multicentre, randomized, investigator-blinded study comparing the efficacy and safety of adapalene gel 0.1% plus clindamycin topical solution 1% versus clindamycin topical solution 1% alone. In the second part of the study (weeks 12-24), completed by 241 subjects, the efficacy and safety of adapalene gel 0.1% alone as a maintenance therapy was investigated. RESULTS: A statistically significant greater reduction was observed from week 4 until week 12 in total lesion counts and from week 8 on for inflammatory and non-inflammatory lesion counts during the initial treatment for combination therapy compared with monotherapy. Results at week 24 for the reduction in all lesion counts during the maintenance phase were statistically significant in favour of adapalene (41.6%) compared with an increase for all lesion counts in the control group (92.1%). Adapalene alone or in combination with clindamycin topical solution was well tolerated. Few adverse events occurred, all of them during the initial treatment phase. Most of these local events were mild or moderate. CONCLUSION: The present study confirmed the importance of a maintenance therapy after a successful initial treatment and underlined the benefit of a combination therapy with a topical retinoid such as adapalene and a topical antibiotic in the treatment of inflammatory acne.
Acne Vulgaris↗
Functional characterization of HUVEC-CS: Ca2+ signaling, ERK 1/2 activation, mitogenesis and vasodilator production.
While many endothelial cell lines exist, few are of human origin with characteristics close to the parent endothelial cell. We derived a subline (HUVEC-CS) of immortalized human umbilical vein endothelial cells (HUVEC-C) that proliferate in standard growth media and exhibit positive acetylated low-density lipoprotein (AcLDL) uptake, express eNOS, CD31 and ve-cadherin, and spontaneously form capillary-like structures when grown on Matrigel. HUVEC-CS also maintain endothelial cell characteristics at the level of mitogenesis, kinase activation and vasodilator production. Like primary HUVEC cells, HUVEC-CS express many of the key proteins necessary for vasodilator production, including epithelial nitric oxide synthase (eNOS), HSP 90, cav-1 and -2, cPLA2, and COX-1 and -2. Prostaglandin I synthase (PGIS) was not detectable by Western blot analysis, consistent with primary HUVEC in which PGI2 production is minimal. Receptors were detected for angiotensin II (AII), bradykinin, ATP and growth factors. ATP induced a dose- and time-dependent rise in the intracellular free Ca2+ concentration ([Ca2+]i). Initially, ATP stimulates P2Y receptors rather than P2X receptors, as demonstrated by the inability of ATP to initiate a Ca2+ response subsequent to emptying of the internal Ca2+ stores by thapsigargin. AII, bradykinin, epidermal growth factor (EGF) and vascular endothelial growth factor (VEGF) also caused a rise in [Ca2+]i in a subset of the cells. ATP, basic fibroblastic growth factor (bFGF), EGF and VEGF induced mitogenesis and caused a rise in ERK 2 activation within 10 min. L-Arginine to L-citrulline conversion assays showed that ATP, EGF and VEGF induced a significant rise in eNOS activity, and this correlates with an ability to induce Ca2+ mobilization and ERK 2 activation. In conclusion, HUVEC-CS are indeed endothelial cells and appear to be functionally very similar to primary HUVEC. These cells will prove a valuable tool for future studies in both basic and therapeutic sciences.
Adenosine Triphosphate↗
Sodium channel inhibition by anandamide and synthetic cannabimimetics in brain.
Anandamide is a prominent member of the endocannabinoids, a group of diffusible lipid molecules which influences neuronal excitability. In this context, endocannabinoids are known to modulate certain presynaptic Ca(2+) and K(+) channels, either through cannabinoid (CB1) receptor stimulation and second messenger pathway activation or by direct action. We investigated the susceptibility of voltage-sensitive sodium channels to anandamide and other cannibimimetics using both biochemical and electrophysiological approaches. Here we report that anandamide, AM 404 and WIN 55,212-2 inhibit veratridine-dependent depolarization of synaptoneurosomes (IC(50)s, respectively 21.8, 9.3 and 21.1 microM) and veratridine-dependent release of L-glutamic acid and GABA from purified synaptosomes [IC(50)s: 5.1 microM (L-glu) and 16.5 microM (GABA) for anandamide; 1.6 microM (L-glu) and 3.3 microM (GABA) for AM 404, and 12.2 (L-glu) and 14.4 microM (GABA) for WIN 55,212-2]. The binding of [3H]batrachotoxinin A 20-alpha-benzoate to voltage-sensitive sodium channels was also inhibited by low to mid micromolar concentrations of anandamide, AM 404 and WIN 55,212-2. In addition, anandamide (10 microM), AM 404 (10 microM) and WIN 55,212-2 (1 microM) were found to markedly block TTX-sensitive sustained repetitive firing in cortical neurones without altering primary spikes, consistent with a state-dependent mechanism. None of the inhibitory effects we demonstrate on voltage-sensitive sodium channels are attenuated by the potent CB1 antagonist AM 251 (1-2 microM). Anandamide's action is reversible and its effects are enhanced by fatty acid amidohydrolase inhibition. We propose that voltage-sensitive sodium channels may participate in a novel signaling pathway involving anandamide. This mechanism has potential to depress synaptic transmission in brain by damping neuronal capacity to support action potentials and reducing evoked release of both excitatory and inhibitory transmitters.
Analysis of Variance↗
Response to elevated CO2 of Indian mustard and sunflower growing on copper contaminated soil.
Explore the source record for details and available documents.
Air Pollutants↗
Global pollution monitoring of PCBs and organochlorine pesticides using skipjack tuna as a bioindicator.
Concentrations of organochlorines (OCs) representing persistent organic pollutants (POPs), such as polychlorinated biphenyls (PCBs), dichlorodiphenyl trichloroethane and its metabolites (DDTs), chlordane compounds (CHLs), hexachlorocyclohexane isomers (HCHs), and hexachlorobenzene (HCB), were determined in the liver of skipjack tuna (Katsuwonus pelamis) collected from the offshore waters of various regions in the world (offshore waters around Japan, Taiwan, Philippines, Indonesia, Seychelles, and Brazil, and the Japan Sea, the East China Sea, the South China Sea, the Bay of Bengal, and the North Pacific Ocean). OCs were detected in livers of all of the skipjack tuna collected from the locations surveyed, supporting the thesis that there is widespread contamination of persistent OCs in the marine environment. Within a location, no significant relationship between growth-stage (body length and weight) and OC concentrations (lipid weight basis) was observed, and the OC residue levels were rather uniform among the individuals. Interestingly, the distribution of OC concentrations in skipjack tuna was similar to those in surface seawaters from which they were taken. These results suggest that OC concentrations in skipjack tuna could reflect the pollution levels in seawater from which they are collected and that this species is a suitable bioindicator for monitoring the global distribution of OCs in offshore waters and the open ocean. Concentrations of PCBs and CHLs in skipjack tuna were higher in offshore waters around Japan (up to 1100 and 250 ng/g lipid wt, respectively), suggesting the presence of sources of PCBs and CHLs in Japan. High concentrations of DDTs and HCHs were observed in samples from the Japan Sea, the East China Sea, the South China Sea, and the Bay of Bengal (up to 1300 and 22 ng/g lipid wt, respectively). This result suggests recent use of technical DDT and HCH for agricultural and/or public health purposes in Russia, China, India, and some other developing Asian countries. Relatively high concentrations of PCBs, CHLs, HCHs, and HCB were also observed in samples collected from some locations in the middle of the Pacific Ocean, indicating the expansion of OC contamination on a global scale. Considering these facts, continuous studies monitoring these compounds in offshore waters and the open seas, using skipjack tuna as a bioindicator, are needed to further understand the future trend of contamination.
Animals↗
[Extreme evolutionary conservation of CaSox4 gene in alligator Alligator sinensis].
The SOX genes form a gene family related by homology to the high-mobility-group (HMG) box region of the testis-determining gene, SRY. Using degenerate primer PCR, we have cloned and sequenced the HMG-box motif of CaSox4 gene from genomic DNA of the Chinese alligator, Alligator sinensis, a species closely related to American alligator, Alligator mississippiensis. Sequence comparison showed that CaSox4 gene shared 97% homology at the nucleotide level and complete identity at the amino acid level, respectively, with AES4 gene of Alligator mississippiensis. It indicates that the Sox4 gene has been extremely conserved during evolution. The result obtained in the present study strongly suggests that the Sox4 gene did not diverge during the differentiation of two closely related alligators, which are thought to have originated from a common ancestor and have existed largely unchanged for 200-250 Myr.
Alligators and Crocodiles↗
Antisense epidermal growth factor receptor RNA transfection in human glioblastoma cells down-regulates telomerase activity and telomere length.
Epidermal growth factor receptor is overexpressed and/or amplified in up to 50% of glioblastomas, suggesting an important role of this gene in glial tumorigenesis and progression. In the present study we demonstrated that epidermal growth factor receptor is involved in regulation of telomerase activity in glioblastoma. Antisense-epidermal growth factor receptor approach was used to inhibit epidermal growth factor receptor expression of glioblastoma U87MG cells. Telomerase activity in antisense-epidermal growth factor receptor cells decreased by up to 54 folds compared with control cells. Moreover, the telomere lengths of antisense-epidermal growth factor receptor cells were shortened. In addition, the tumorigenicity of antisense-epidermal growth factor receptor cells was significantly inhibited. Taken together, there were strong correlations between tumorigenicity and epidermal growth factor receptor expression levels, and between tumorigenicity and telomerase activity. These results provide evidence that epidermal growth factor receptor plays an important role in the regulation of telomerase activity of glioma cells. Our findings provide new insights into both the biological functions of epidermal growth factor receptor and the regulation of telomerase activity. The inhibition of telomerase activity triggered by antisense-epidermal growth factor receptor treatment may reflect yet another mechanism of antisense-epidermal growth factor receptor approach in tumour suppression.
Animals↗
Dosimetric characteristics with spatial fractionation using electron grid therapy.
Recently, promising clinical results have been shown in the delivery of palliative treatments using megavoltage photon grid therapy. However, the use of megavoltage photon grid therapy is limited in the treatment of bulky superficial lesions where critical radiosensitive anatomical structures are present beyond tumor volumes. As a result, spatially fractionated electron grid therapy was investigated in this project. Dose distributions of 1.4-cm-thick cerrobend grid blocks were experimentally determined for electron beams ranging from 6 to 20 MeV. These blocks were designed and fabricated at out institution to fit into a 20 x 20-cm(2) electron cone of a commercially available linear accelerator. Beam profiles and percentage depth dose (PDD) curves were measured in Solid Water phantom material using radiographic film, LiF TLD, and ionometric techniques. Open-field PDD curves were compared with those of single holes grid with diameters of 1.5, 2.0, 2.5, 3.0, and 3.5 cm to find the optimum diameter. A 2.5-cm hole diameter was found to be the optimal size for all electron energies between 6 and 20 MeV. The results indicate peak-to-valley ratios decrease with depth and the largest ratio is found at Dmax. Also, the TLD measurements show that the dose under the blocked regions of the grid ranged from 9.7% to 39% of the dose beneath the grid holes, depending on the measurement location and beam energy.
Dose Fractionation, Radiation↗
Fractalkine (CX3CL1) and brain inflammation: Implications for HIV-1-associated dementia.
Leukocyte migration and activation play an important role in immune surveillance and the pathogenesis of a variety of neurodegenerative disorders, including human immunodeficiency virus (HIV)-1-associated dementia (HAD). A novel chemokine named fractalkine (FKN, CX3CL1), which exists in both membrane-anchored and soluble isoforms, has been proposed to participate in the generation and progression of inflammatory brain disorders. Upon binding to the CX3C receptor one (CX3CR1), FKN induces adhesion, chemoattraction, and activation of leukocytes, including brain macrophages and microglia (MP). Constitutively expressed in the central nervous system (CNS), mainly by neurons, FKN is up-regulated and released in response to proinflammatory stimuli. Importantly, FKN is up-regulated in the brain tissue and cerebrospinal fluid (CSF) of HAD patients. Together, these observations suggest that FKN and its receptor have a unique role in regulating the neuroinflammatory events underlying disease. This review will examine how FKN contributes to the recruitment and activation of CX3CR1-expressing MP, which are critical events in the neuropathogenesis of HAD.
AIDS Dementia Complex↗
[The human alpha(2A)-AR gene and the genotype of site -1296 and the susceptibility to motion sickness].
The gene sequences of alpha(2A)-adrenergic receptor(alpha(2A)-AR) in 39 Chinese and 1 Englishman showed 13 differences of g or c insertion or deletion in its regulation region, coding region and 3' untranslated region, compared with that reported in GenBank. The gene sequences from all the samples respectively were identical except for 2 single nucleotide polymorphisms, including the sequence of sense and antisense strand sequenced. It was found that: (1) the frequency of gg genotype in Chinese and Japanese, who are high susceptible to motion sickness, were 5.8 and 7.8 fold higher than that in Englishmen; (2) g allele frequencies in Chinese and Japanese were higher than latter ( P 0.01 ); (3) gg genotype frequency in population susceptible to motion sickness was 1.6 fold higher than that in population unsusceptible to motion sickness, and g allele frequency was higher than latter ( P 0.01 ). All the populations were in Hardy-Weinberg equilibrium. The results suggested that gg genotype and g allele at site -1296 in alpha(2A)-AR gene could associate with the susceptibility to motion sickness.
Asian People↗