[Gene screening and phenotype analysis in a pedigree with familial hypertrophic cardiomyopathy from Yunnan Province].

Objective: To identify the disease-causing mutations in a pedigree with familial hypertrophic cardiomyopathy (HCM) from Yunnan province, and analyze the relationship between the genotype and the phenotype. Methods: The blood samples and the clinical data of the HCM family members were collected.The coding exons and their flanking intronic regions of 28 previously reported genes related to HCM were screened in the proband by high-throughput sequencing. The mutations in proband were confirmed and detected in all family members as well as in 159 healthy controls by Sanger sequencing.The relationship between the genotype and the phenotype was analyzed in this pedigree. Results: Two missense mutations of Arg1045His and Ala26Val in ß myosin heavy chain gene(MYH7) were identified. Genetic screening showed that the mother and brother of the proband carried Arg1045His mutation.Both mutations were absent in other family members and in 159 healthy controls.Disease onset age was less than 50 years old in this pedigree, chest pain, exertional dyspnea and syncope were the major symptoms, and all accompanied by severe left ventricular hypertrophy and left ventricular outflow tract stenosis.The grandma of the proband suffered sudden cardiac death. The proband had the worst symptoms and the earliest disease onset in this pedigree. Conclusions: We find a pedigree with familial HCM from Yunnan province carrying MYH7 Arg1045His and Ala26Val mutations. The study suggests that Arg1045His mutation in MYH7 gene caused HCM is malignant with early onset, severe ventricular hypertrophy and poor prognosis. Arg1045His and Ala26Val double-mutant might have dosage effects and aggravate the clinical phenotype of the patient.

Molecular variation of Sporisorium scitamineum in Mainland China revealed by internal transcribed spacers.

Sugarcane smut caused by the fungus Sporisorium scitamineum is a worldwide disease and also one of the most prevalent diseases in sugarcane production in mainland China. To study molecular variation in S. scitamineum, 23 S. scitamineum isolates from the 6 primary sugar-cane production areas in mainland, China (Guangxi, Yunnan, Guangdong, Hainan, Fujian, and Jiangxi Provinces), were assessed using internal transcribed spacer (ITS) methods. The results of ITS sequence analysis showed that the organisms can be defined at the genus level, including Ustilago and Sporisorium, and can also differentiate between closely related species. This method was not suitable for phylogenetic relationship analysis of different S. scitamineum isolates and could not provide support regarding their race ascription at the molecular level. The results of the present study will be useful for studies examining the molecular diversity of S. scitamineum and for establishing a genetic foundation for their pathogenicity differentiation and new race detection. In addition, our results can provide useful information for the pathogen selection principle in sugarcane smut resistance breeding and variety distribution.

A novel radioresistant mechanism of galectin-1 mediated by H-Ras-dependent pathways in cervical cancer cells.

Galectin-1 is a lectin recognized by galactoside-containing glycoproteins, and is involved in cancer progression and metastasis. The role of galectin-1 in radiosensitivity has not previously been investigated. Therefore, this study tests whether galectin-1 is involved in the radiosensitivity mediated by the H-Ras signaling pathway using cervical carcinoma cell lines. A knockdown of galectin-1 expression in HeLa cells decreased clonogenic survival following irradiation. The clonogenic survival increased in both HeLa and C33A cells with galectin-1 overexpression. The overexpression or knockdown of galectin-1 did not alter radiosensitivity, whereas H-Ras was silenced in both cell lines. Whereas K-Ras was knocked down, galectin-1 restored the radiosensitivity in HeLa cells and C33A cells. The knockdown of galectin-1 increased the high-dose radiation-induced cell death of HeLa cells transfected by constitutively active H-Ras. The knockdown of galectin-1 inhibited the radiation-induced phosphorylation of Raf-1 and ERK in HeLa cells. Overexpression of galectin-1 enhanced the phosphorylation of Raf-1 and ERK in C33A cells following irradiation. Galectin-1 decreased the DNA damage detected using comet assay and γ-H2AX in both cells following irradiation. These findings suggest that galectin-1 mediates radioresistance through the H-Ras-dependent pathway involved in DNA damage repair.

Somatic LMCD1 mutations promoted cell migration and tumor metastasis in hepatocellular carcinoma.

Common genetic alteration in cancer genomes is implicated for embracing an aberrant cancer gene participated in tumor progression. In this study, we identified a somatic mutated LIM and cysteine-rich domains-1 (LMCD1) as a putative metastatic oncogene in human hepatocellular carcinoma (HCC) using integrated genomic approaches. In addition to revealing genomic amplification and gene upregulation, we identified recurrent E135K (3/48 cases) mutations in HCC tissues and K237R mutation in the PLC/PRF/5 HCC cell line. Expression of mutant LMCD1 E135K or K237R reduced the stress fiber assembly, increased cortical actin accumulation and induced lamellipodial extension. Consistently, these mutations enhanced cell migration and showed activation of the Rac1-signaling pathway. Inhibition of the LMCD1/Rac1 pathway by an LMCD1 short-hairpin RNA (shLMCD1) or the Rac1 inhibitor NSC23766 suppressed the mutation-mediated lamellipodial protrusion and cell migration. In PLC/PRF/5 cells with endogenous K237R mutation, cell migration was enhanced by estrogen-induced LMCD1 expression but reversed by shLMCD1 treatment. Moreover, overexpression of LMCD1 E135K mutation significantly promoted systemic lung metastasis in a murine tail vein injection model. Together, our results suggest that LMCD1 mutations are potential oncogenic events in HCC metastasis to promote cell migration through the Rac1-signaling pathway.

Enhanced fluorescence from CdTe quantum dots self-assembled on the surface of silver nanoparticles.

This paper presents an investigation on the fluorescent properties of semiconductor CdTe quantum dots (QDs) self-assembled on the surface of PVP (polyvinylpyrrolidone)-capped silver nanoparticles (NPs) by the ligand field effect. A significant 2.5-fold enhancement in the integrated fluorescence intensities, red shift of fluorescence peak, and obvious decrease of lifetime were observed in the CdTe QDs assembled on the Ag NPs in comparison with the pure CdTe QDs. The fluorescence enhancement factor and red shift were found to depend on the Ag NP concentration. The fluorescence enhancement was attributed to a highly localized electromagnetic field on the Ag NPs generated by the surface plasma and the change in the surface trap state of the CdTe QDs originating from plasma oscillations in the Ag NPs. It is first proposed that the surface passivation of CdTe QDs is also an important factor for metal-enhanced fluorescence. The surface defects of CdTe QDs can be modified by the Cd-O coordination interaction between the CdTe QDs and PVP molecules, which will cause the trap state density and luminescence lifetime to decrease. The surface passivation of CdTe QDs can also improve fluorescence quantum yield and lead to the red shift of the fluorescence peak. Compared with previous reports, the occurrence of the self-assembly of CdTe QDs on the surface of PVP-capped Ag NPs is fairly simple and easy. From a practical point of view, the combination of CdTe QDs with Ag NPs may lead to the fluorescence enhancement, which could be utilized in a variety of chemical and biological detection applications.

Transition from orbital liquid to Jahn-Teller insulator in orthorhombic perovskites RTiO3.

Following the same strategy used for RVO3, thermal conductivity measurements have been made on a series of single-crystal perovskites RTiO3 (R=La,Nd,...,Yb). Results reveal explicitly a transition from an orbital liquid to an orbitally ordered phase at a magnetic transition temperature, which is common for both the antiferromagnetic and ferromagnetic phases in the phase diagram of RTiO3. This spin/orbital transition is consistent with the mode softening at T_{N} in antiferromagnetic LaTiO3 and is supported by an anomalous critical behavior at T_{c} in ferromagnetic YTiO3.

Effect of solvent on absorption spectra of all-trans-beta-carotene under high pressure.

The absorption spectra of all-trans-beta-carotene in n-hexane and carbon disulfide (CS(2)) solutions are measured under high pressure at ambient temperature. The common redshift and broadening in the spectra are observed. Simulation of the absorption spectra was performed by using the time-domain formula of the stochastic model. The pressure dependence of the 0-0 band wavenumber is in agreement with the Bayliss theory at pressure higher than 0.2 GPa. The deviation of the linearity at lower pressure is ascribed to the reorientation of the solvent molecules. Both the redshift and broadening are stronger in CS(2) than that in n-hexane because of the more sensitive pressure dependence of dispersive interactions in CS(2) solution. The effect of pressure on the transition moment is explained with the aid of a simple model involving the relative dimension, location, and orientation of the solute and solvent molecules. The implication of these results for light-harvesting functions of carotenoids in photosynthesis is also discussed.

Upconversion luminescence of CdTe nanocrystals by use of near-infrared femtosecond laser excitation.

We study the steady-state and time-resolved luminescent properties of CdTe nanocrystals by one- and two-photon excitation with a femtosecond laser. We observe that 1208 nm excitation causes a shift of the emission peak of about 20 nm to the infrared compared with 400 nm laser excitation. It is found that upconversion luminescence is composed of a photoinduced trapping and a band edge excitonic state and produces the observation of biexponential decay kinetics. We conclude that the redshift of the emission peak is caused by the relative change in luminescence intensity between excitonic and trapping states.

Orbital fluctuations and orbital flipping in RVO3 perovskites.

The effect of the average R-site ionic radius IR and variance on the orbital and magnetic order in R3+-doped YVO3 was studied in Y1-xLaxVO3 and Y1-x(La0.2337Lu0.7663)xVO3 with fixed IR. The orbital flipping temperature T{CG} increases nonlinearly with increasing R-site variance, indicating that the V-O-V bond angle is not the primary driving force stabilizing the C-type orbitally ordered phase. The suppressed thermal conductivity in the G-type orbitally ordered phase signals some remaining orbital randomness that is enhanced by t{2} and et hybridization in {3}T{1g} site symmetry.

Specific heat of single-crystal PrMnO3.

The specific heat of single-crystal PrMnO3 was investigated from 2 to 200 K under different magnetic fields up to 8 T. A Schottky-like anomaly observed at low temperature was gradually shifted to higher temperatures by magnetic fields. The first four singlets of the Pr3+ 3H4 ground multiplet in PrMnO3 are given for the first time by fitting the specific heat of Pr3+ ions below 40 K under zero field. By analysing the field dependence of the first singlet of Pr3+ ions, the Pr-Mn exchange field is found to be negligible, which is consistent with the magnetic anisotropy of Pr3+ ions revealed in the magnetic measurement. At TN, the cooperative antiferromagnetic ordering of Mn3+ spins shows up as λ-shaped anomaly, which is lowered and broadened in magnetic fields. The magnetic entropy near TN is estimated by subtracting the contributions to specific heat from Pr3+ ions and lattice vibrations. It was found that the fraction of entropy above TN in the total entropy increases with the fields due to the enhancement of spin fluctuations by magnetic field.

Successful treatment of a persistent mole with myometrial invasion by direct injection of methotrexate.

For patients with persistent or invasive gestational trophoblastic disease (GTD), systemic injection of chemotherapy is the treatment of choice if fertility is to be preserved. To prevent serious adverse effects after systemic use and possibly achieve better effects, direct local injection of chemotherapy into the tumor site, especially when in the myometrium, seems a reasonable alternative. A patient with a persistent molar pregnancy with myometrial invasion is presented. A plateau of beta-hCG (human chorionic gonadotropin) level around 550 mIU/mL was noticed for three weeks though systemic methotrexate (MTX) injection and repeat suction curettage had been performed. During the same period, a well-defined invasive complex with multiple vesicles in the myometrium was documented using transvaginal ultrasound (TVUS). Sonar-guided injection to the tumor using 50 mg MTX was performed uneventfully. An obvious shrinkage of the mass and declining beta-hCG level were demonstrated after the procedure. The patient restored her menses after the operation and a fertility evaluation including serial beta-hCG levels and hysterosalpingography showed them to be within the reference ranges. The successful outcome of this case encouraged us to treat localized invasive GTD using direct injection of MTX with the guidance of TVUS. Since no identical cases were found in our review of the English literature, more cases and similar regimens are needed to establish the safety and efficacy of this procedure.

Preoperational diagnosis of a uterine lipoleiomyoma using ultrasound and computed tomography images: a case report.

A uterine lipoleiomyoma is a variant of uterine myomas, however, it is rarely found in patients and the diagnosis of uterine lipoleiomyoma has always been in retrospect. Uterine lipoleiomyomas are often diagnosed preoperatively as uterine myomas or ovarian mature teratomas. The key to distinguishing the tumors from lipoleiomyomas is to ascertain the primary site of development--uterus or adnexa. When a large uterine tumor is found in a postmenopausal woman, the possibility of malignancy should be considered. Now, however, advanced modern imaging systems can provide more precise diagnoses than before. The following case illustrates how a uterine lipoleiomyoma was highly suggestive preoperatively based on typical characteristics on ultrasound and computed tomography (CT). A homogeneous hyper-echoic mass confined to the uterus on ultrasound initiated the suspiction of the tumor. In addition, the uterine mass showed lower density than water on CT which further established the possibility of a fatty tumor of the uterus. The final pathological examination results confirmed the diagnosis of lipoleiomyoma.

Endothelial [Ca(2+)](i) signaling during transmigration of polymorphonuclear leukocytes.

Vascular endothelium plays an important role in regulating the transendothelial migration of polymorphonuclear leukocytes (PMNs). In this study, the intracellular calcium ion ([Ca(2+)](i)) signaling of endothelial cells (ECs) during PMN transmigration was examined at the single-cell level. Human umbilical vein ECs were cultured on a thin layer of collagen gel. The ECs were labeled with fura-2, immersed in formyl-Met-Leu-Phe, and subsequently perfused with fresh buffer to establish a gradient of chemoattractant across the EC monolayer. The entire process of PMN rolling on, adhering to, and transmigrating across the EC monolayer was recorded under both phase-contrast and fluorescence optics. The data showed the following: (1) At high concentration (approximately 3 x 10(6)/mL), both PMN suspension and its supernatant stimulated frequent EC [Ca(2+)](i) elevations across the monolayer; (2) when used at lower concentration (approximately 5 x 10(5)/mL) to avoid the interference of soluble factors, PMN transmigration, but not rolling or adhesion, was accompanied by EC [Ca(2+)](i) elevation; (3) the latter EC [Ca(2+)](i) elevation occurred simultaneously in ECs adjacent to the transmigration site, but not in those that were not in direct contact with the transmigrating PMNs; (4) this EC [Ca(2+)](i) elevation was an initial and required event for PMN transmigration; and (5) PMNs pretreated with 5,5'-dimethyl-1, 2-bis(2-aminophenoxy)ethane-N, N, N', N'-tetraacetic acid transmigrated with the accompanying EC [Ca(2+)](i) elevation, but they became elongated in the collagen gel. In conclusion, PMNs induce adjacent EC [Ca(2+)](i) signaling, which apparently mediates the "gating" step for their subsequent transmigration. (Blood. 2000;96:3816-3822)

Antibacterial activity of a chitooligosaccharide mixture prepared by cellulase digestion of shrimp chitosan and its application to milk preservation.

The antibacterial activity of a chitooligosaccharide mixture prepared by digestion of shrimp chitosan with cellulase at 50 degrees C for 14 h was evaluated. Sugars with 1 to 8 degrees of polymer (DP) were found in this chitooligosaccharide mixture, and the weight percentage of sugars with DP > or = 6 was 44.3%. Minimal lethal concentrations of this mixture against Aeromonas hydrophila, Escherichia coli, Listeria monocytogenes, Pseudomonas aeruginosa, Salmonella Typhimurium, Shigella dysenteriae, Staphylococcus aureus, Vibrio cholerae, and Vibrio parahaemolyticus in nutrient broth were 5 to 29 ppm, which were much lower than those of the chitosan reactant (50 to 1,000 ppm). The antibacterial activity of this mixture in the sterilized milk against E. coli O157, L. monocytogenes, Salmonella Typhimurium, and S. aureus was much stronger at 4 degrees C than at 37 degrees C. When raw milk was supplemented with either 0.24% or 0.48% (wt/vol) of this oligosaccharide mixture and stored at 4 degrees C for 12 days, its mesophilic and psychrotrophic counts were reduced by at least 3 log cycles, and there was very little change in pH. In addition, this mixture retarded the growth of Salmonella species and caused quicker reduction of Staphylococcus species in raw milk. Accordingly, the shelf life of raw milk at 4 degrees C was extended by at least 4 days.

Antibacterial activity of shrimp chitosan against Escherichia coli.

The effects of cell age, reaction temperature, pH value, and salts on the inhibitory activity of shrimp chitosan (98% deacetylated) against Escherichia coli were investigated. The age of a bacterial culture affected its susceptibility to chitosan, with cells in the late exponential phase being most sensitive to chitosan. Higher temperature (25 and 37 degrees C) and acidic pH increased the bactericidal effects of chitosan. Sodium ions (100 mM Na+) might complex with chitosan and accordingly reduce chitosan's activity against E. coli. Divalent cations at concentrations of 10 and 25 mM reduced the antibacterial activity of chitosan, in the order of Ba2+ > Ca2+ > Mg2+. Chitosan also caused leakage of glucose and lactate dehydrogenase from E. coli cells. These data support the hypothesis that the mechanism of chitosan antibacterial action involves a cross-linkage between the polycations of chitosan and the anions on the bacterial surface that changes the membrane permeability.

Disk-type multiplex holography.

A theory for making a disk-type multiplex hologram is derived. This theory relates the final image point, as seen by the observer, to a point on the original three-dimensional object through a set of equations. From these equations the distortion of the image and the wavelength as seen by each individual eye can be evaluated. Computer simulation shows the characteristics of this hologram. Some experimental results also confirm these characteristics. By reversing the process and specifying a desired image, we generated a set of distorted two-dimensional originals. The hologram fabricated with these distorted images can generate nearly distortion-free images.

Unusual presentation of heterotopic pregnancy: a case report.

The incidence of heterotopic pregnancy has been rising in recent years with the increased use of assisted reproductive techniques (ART). This report describes an unusual clinical presentation in a 24-year-old woman who had a combination of intrauterine triplets and a single intrafallopian pregnancy. Two fetuses located on the same side as the ectopic pregnancy demised after rupture of an ectopic pregnancy at seven weeks of gestation. After performing emergency exploratory laparotomy to manage the ruptured ectopic pregnancy, one intrauterine pregnancy continued smoothly, resulting in the delivery of a 3,550 g normal baby at 38 weeks of gestation. The possible cause of fetal demise may have been the ruptured ectopic pregnancy of the left tube, which compromised the blood supply to the same side of the gestational sacs, but the sac implanted on the right side was compensated by prominent collateral circulation, although that remains a hypothesis. To our knowledge, this is a novel report of such an occurrence.

Changes in extracellular serotonin in rat hypothalamus affect thermoregulatory function.

Experiments were carried out to determine the effects of altering the serotonin (5-HT) levels in the hypothalamus on thermoregulatory function in unanesthetized restrained rats. Local perfusion of the hypothalamus with dialysis solution containing 5-hydroxytryptophan (a 5-HT precursor), fluoxetine (a 5-HT reuptake inhibitor), or high potassium significantly increased both colonic temperature (Tco) and the extracellular concentrations of 5-HT in the hypothalamus. Reciprocally, both extracellular concentration of 5-HT in the hypothalamus and Tco were decreased with a dialysis solution containing tetrodotoxin (which blocks the voltage-dependent sodium channel), zero calcium concentration, or systemic administration of 8-hydroxy-2-(di-n-propylamino) tetralin (8-OH-DPAT,5-HT1A agonist). Intrahypothalamic administration of 8-OH-DPAT and (2,5-dimethoxy-4-iodophenyl)-2-aminopropane (a 5-HT2 agonist) produced hypothermic and hyperthermic effects, respectively. The results indicate that elevating the 5-HT levels in the hypothalamus activates postsynaptic 5-HT2 receptors and results in hyperthermic effects, whereas stimulation of presynaptic 5-HT1A receptors in the hypothalamus reduces the endogenous 5-HT release and results in hypothermic effects.

Palliative medicine and the hospice movement in Taiwan.

Taiwan is an island country, with a small area and a dense population. Cancer has been the leading cause of death for over 15 years, and the number of cancer deaths is increasing year by year. The hospice movement started in 1983, and the first hospice was set up in 1990. There are more than ten hospices at present. Three foundations and one other organization have joined in with the hospice movement. The capacity of the hospice service cannot meet the needs for care. Education together with training is becoming necessary. Research is highlighted with an indigenous model. The curriculum for palliative medicine has recently been confirmed for education in the future. The Government has been a great help in the development of palliative care, and more service needs are identified. The situation with the hospice movement in Taiwan is positive and promising.