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1.
Zhonghua Xue Ye Xue Za Zhi ; 45(1): 82-85, 2024 Jan 14.
Artículo en Chino | MEDLINE | ID: mdl-38527843

RESUMEN

Gaucher Disease (GD) is an autosomal recessive lysosomal storage disorder characterized by high heterogeneity. This study aimed to further understand the correlation between clinical phenotypes and genotypes in GD patients through a retrospective analysis of 20 cases in Shanxi Bethune Hospital, including their clinical manifestations, laboratory tests, enzyme studies, and genetic results. Among the 20 GD patients, 16 were classified as Type Ⅰ GD with a median age of diagnosis of 24 years, and 4 were classified as Type Ⅲ GD with a median age of diagnosis of 19 years. All patients exhibited splenomegaly and thrombocytopenia, with 16 patients showing skeletal imaging changes, and 5 of them presenting with bone pain symptoms. Genetic analysis revealed 15 distinct mutations, predominantly missense mutations, with L483P being the most prevalent (35.7%), followed by V414L, L303I, and F252I. Mutation sites were predominantly located in exon 7. Noteworthy findings included the first report of the S310G mutation by our research group and the first occurrence of the K196R mutation in the Chinese population. Additionally, the N227S mutation was implicated in a potential association with neuropathy. Despite advancements, Uncertainties still exist in the correlation between clinical phenotypes and genotypes in GD patients.


Asunto(s)
Enfermedad de Gaucher , Humanos , Adulto Joven , Adulto , Enfermedad de Gaucher/genética , Estudios Retrospectivos , Fenotipo , Genotipo , Mutación
2.
Zhonghua Yu Fang Yi Xue Za Zhi ; 57(7): 1011-1017, 2023 Jul 06.
Artículo en Chino | MEDLINE | ID: mdl-37482738

RESUMEN

Objective: To establish reference values for carotid intima-media thickness (CIMT) of adult dwellers in Shenzhen City. Methods: The study was conducted based on the Shenzhen heart failure epidemiological survey from 2021 to 2022. In this survey, residents aged 18 years and above in Shenzhen were selected by using a multi-stage stratified random sampling method. General information, cardiovascular disease (CVD) related behavior and carotid ultrasound examination and etc. were collected from the participants. People with CVD factors, a history of atherosclerotic cardiovascular disease, carotid plaque or having no carotid ultrasound examination results were excluded. The parameter regression model based on fractional polynomial was used to establish the reference values of CIMT by age and sex. Results: A total of 2 163 healthy individuals were enrolled in the final analysis, including 576 males (26.6%) and 1 587 females (73.4%). The fractional polynomial regression of the CIMT mean and standard deviation was obtained. For men, the regression was meanCIMT=0.324 7+0.006 9×age and SDCIMT=0.076 9+0.001 2×age. For women, the regression was meanCIMT=0.354 9+0.005 4×age and SDCIMT=0.041 6+0.002 0×age. Conclusion: The age and sex reference values for CIMT of adult people in Shenzhen established in this study could provide the latest reference standards for early screening of subclinical CVD.


Asunto(s)
Enfermedades Cardiovasculares , Enfermedades de las Arterias Carótidas , Masculino , Humanos , Adulto , Femenino , Grosor Intima-Media Carotídeo , Valores de Referencia , Arterias Carótidas/diagnóstico por imagen , Ultrasonografía de las Arterias Carótidas , Factores de Riesgo
3.
Eur Rev Med Pharmacol Sci ; 22(24): 8909-8917, 2018 12.
Artículo en Inglés | MEDLINE | ID: mdl-30575934

RESUMEN

OBJECTIVE: To evaluate the effects of miR-29a on the high glucose (HG)-induced apoptosis and the correlation between miR-29a and heme oxygenase-1 (HO-1) and the underlying molecular mechanism. MATERIALS AND METHODS: The cell apoptosis was analyzed by the flow cytometry, and the cells autophagy was evaluated using the transmission electron microscopy. Luciferase reporter assay was carried out to detect the correlation between miR-29a and HO-1. Besides, reverse transcription-PCR and Western blot were applied to detect the mRNA and protein levels. RESULTS: The expression of miR-29a was significantly decreased in the HG-treated podocytes. Besides, miR-29a overexpression could promote cellular autophagy and significantly reduce HG-induced podocytes apoptosis. Moreover, HO-1 was a direct target of miR-29a and the pre-autophagy and the anti-apoptotic effects of miR-29a on HG-treated podocytes could be significantly reversed by the HO-1 siRNA administration. CONCLUSIONS: MiR-29a functionally promoted podocytes autophagy and inhibited apoptosis through the HO-1dependent pathway in the HG condition.


Asunto(s)
Apoptosis/efectos de los fármacos , Autofagia/efectos de los fármacos , Glucosa/toxicidad , Hemo-Oxigenasa 1/metabolismo , Proteínas de la Membrana/metabolismo , MicroARNs/metabolismo , Podocitos/efectos de los fármacos , Regiones no Traducidas 3' , Animales , Beclina-1/metabolismo , Sitios de Unión , Células HEK293 , Hemo-Oxigenasa 1/genética , Humanos , Proteínas de la Membrana/genética , Ratones , MicroARNs/genética , Proteínas Asociadas a Microtúbulos/metabolismo , Podocitos/enzimología , Podocitos/ultraestructura , Transducción de Señal
4.
Int J Cosmet Sci ; 37(3): 321-8, 2015 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-25639473

RESUMEN

OBJECTIVES: Salidroside, the predominant component of a Chinese herbal medicine, Rhodiola rosea L., becomes an attractive bio-agent due to its multifunction. Although it is well proposed that this herbal medicine may have photoprotective effect according to the folk hearsay, the direct supportive experimental evidences linking the drug with skin ageing have rarely been reported so far. The study was conducted to investigate the photoprotective role of salidrosdie and its related mechanisms in vitro. METHODS: First, a premature senescence model induced by UVB irradiation (250 mJ cm(-2)) in human dermal fibroblasts (HDFs) was established, and senescent phenotypes were evaluated by cell morphology, cell proliferation, senescence-associated beta-galactosidase (SA-ß-gal) activity and cell cycle distribution. Then the photoprotective effect of salidroside was investigated. Cells were pre-treated with various doses of salidroside (1, 5 and 10 µM) followed by the sublethal dosage of UVB exposure and then were harvested for various detections, including senescence-associated phenotypes and molecules, alteration of oxidative stress, matrix metalloproteinase-1 (MMP-1) secretion and inflammatory response. RESULTS: Pre-treatment of salidroside dose dependently reversed the senescent state of HDFs induced by UVB as evidenced by elevated cell viability, decreased SA-ß-gal activity and relieving of G1/G0 cell cycle arrest. UVB-induced increased protein expression of cyclin-dependent kinase (CDK) inhibitors p21(WAF) (1) and p16(INK) (4) was also repressed by salidrosdie treatment in a dose-dependent manner. Meanwhile, the increment of malondialdehyde (MDA) level in UVB-irradiated HDFs was inhibited upon salidroside treatment. Additionally, salidroside significantly attenuated UVB-induced synthesis of MMP-1 as well as the production of IL-6 and TNF-α in HDFs. CONCLUSION: Our data provided the evidences for the protective role of salidroside against UVB-induced premature senescence in HDFs probably via its anti-oxidative property and inhibition on production of MMP-1 and pro-inflammatory cytokines, which indicated its potential utilization as an active ingredient in the preparation of photoprotective formulation.


Asunto(s)
Senescencia Celular/efectos de los fármacos , Glucósidos/farmacología , Fenoles/farmacología , Piel/efectos de los fármacos , Piel/efectos de la radiación , Rayos Ultravioleta , Células Cultivadas , Humanos , Mediadores de Inflamación/metabolismo , Metaloproteinasa 1 de la Matriz/metabolismo , Estrés Oxidativo , Piel/citología , Piel/metabolismo
5.
Space Med Med Eng (Beijing) ; 14(1): 60-2, 2001 Feb.
Artículo en Chino | MEDLINE | ID: mdl-11712560

RESUMEN

OBJECTIVE: To observe the effects of simulated weightlessness on the immunogenic activities in mice. METHOD: T cell subpopulations and the activity of IL-2 and IL-6 were observed in mice after exposure to head-down (-30 degrees) tail suspension for 3 d and 7 d. RESULT: The activity of IL-2 and IL-6 in mice showed no change after simulated weightlessness for 3 d compared with the control group. But after simulated weightlessness for 7 d, CD3+ and CD4+ were markedly reduced (both P< 0.01) and CD8+ and CD4+/CD8+ also tended to decrease; the activity of IL-2 was significantly decreased, while the activity of IL-6 tended to increase. CONCLUSION: Simulated weightlessness for 7 d had significant effects on T cell subpopulations and the activity of certain cytokines in mice.


Asunto(s)
Interleucina-2/metabolismo , Interleucina-6/metabolismo , Subgrupos de Linfocitos T/fisiología , Simulación de Ingravidez , Animales , Complejo CD3 , Antígenos CD4 , Relación CD4-CD8 , Antígenos CD8 , Suspensión Trasera , Ratones , Subgrupos de Linfocitos T/inmunología , Subgrupos de Linfocitos T/metabolismo
6.
Space Med Med Eng (Beijing) ; 14(4): 291-4, 2001 Aug.
Artículo en Chino | MEDLINE | ID: mdl-11681345

RESUMEN

OBJECTIVE: To investigate the effect of simulated weightlessness on apoptosis of thymus cells in mice. METHOD: Tail-suspended mice were used as an animal model of simulated weightlessness; chromosome breakage was measured by PI staining, and changes of cell membrane were determined by Annexin-V analysis. RESULT: As compared with the control, there was no obvious chromosome breakage; the total number of apoptotic cells and number of early apoptotic cells increased in 1 d suspended group; the number of early apoptotic cells increased significantly and the total number of apoptotic cells increased very significantly in 2d suspended groups. CONCLUSION: These results suggested that simulated weightlessness could promote apoptosis of thymus cells.


Asunto(s)
Apoptosis/fisiología , Suspensión Trasera , Timo/citología , Simulación de Ingravidez , Animales , Anexina A5/análisis , Membrana Celular/fisiología , Rotura Cromosómica , Ratones
7.
Space Med Med Eng (Beijing) ; 14(3): 215-7, 2001 Jun.
Artículo en Chino | MEDLINE | ID: mdl-11892738

RESUMEN

Objective. To observe the protective effects of two kinds of Chinese herb-compounds (Dan-huang-ci compound and Shen-chuan-shu compound) on cellular immunology in tail-suspended rats. Method. The rats were divided into: 1) normal control group; 2) tail-suspended group; 3) tail-suspended + Dan-huang-ci compound; and 4) tail-suspended + Shen-chuan-shu compound. Ability of lymphocyte proliferation and production of IL-2 in rats in the four groups were compared after 21 d. Result. The immunological function of tail-suspended control group decreased significantly as compared with normal control group. Shen-chuan-shu compound could improve immunological function of tail-suspended rats obviously. Conclusion. Shen-chuan-shu compound could enhance cellular immunological function in rats under simulated weightlessness.


Asunto(s)
Medicamentos Herbarios Chinos/farmacología , Inmunidad Celular/efectos de los fármacos , Interleucina-2/metabolismo , Linfocitos/efectos de los fármacos , Simulación de Ingravidez , Animales , Suspensión Trasera , Inmunidad Celular/fisiología , Activación de Linfocitos/efectos de los fármacos , Activación de Linfocitos/fisiología , Linfocitos/fisiología , Ratas , Bazo/citología , Bazo/fisiología
8.
Talanta ; 53(5): 1031-6, 2001 Jan 26.
Artículo en Inglés | MEDLINE | ID: mdl-18968194

RESUMEN

The electrochemistry of L-tyrosine was studied by cyclic voltammetry at a glassy carbon electrode. Although L-tyrosine itself showed very poor electrochemical response, the response could be greatly enhanced by using 4-hydroxy-2,2,6,6-tetramethylpiperidinyl-1-oxy (HO-TEMPO) as a mediator that enables a sensitive determination of the substrate. An electrocatalytic EC' mechanism with the oxoammonium ion of HO-TEMPO as the active oxidant is proposed. The catalytic rate constant was determined to be 2.0 x 10(4) M(-1) s(-1) by using chronoamperometry.

10.
Space Med Med Eng (Beijing) ; 12(1): 14-7, 1999 Feb.
Artículo en Chino | MEDLINE | ID: mdl-11765771

RESUMEN

OBJECTIVE: To observe the effect of -6 degrees head-down bed-rest on proliferation of lymphocyte and production of certain cytokines. METHODS: 6 healthy young men served as the subjects. Peripheral blood lymphocyte was assayed 1d prior to and on the 3rd day and 6th day of bed rest. RESULTS: The production of IFN-alpha on the 3rd day was markedly decreased (P < 0.05), but killing activity of NK was significantly enhanced (P < 0.05), production of IFN-gamma and expression of IL-2 receptor were all slightly reduced. Both production of IFN-alpha and killing activity of NK resumed to the control level on the 6th day, production of IFN-r and CD25 were significantly lowered (P < 0.05) on the 6th day, a lymphocyte proliferation and production of IL-2 were gradually decreased with time, but production of IL-6 was gradually increased. CONCLUSION: -6 degrees head-down bed-rested has certain effect on cellular immune function in man.


Asunto(s)
Citocinas/inmunología , Inmunidad Celular , Células Asesinas Naturales/inmunología , Linfocitos T/inmunología , Simulación de Ingravidez , Adulto , Reposo en Cama , Inclinación de Cabeza , Humanos , Interferón-alfa/inmunología , Interleucina-2/inmunología , Interleucina-6/inmunología , Masculino , Factores de Tiempo
11.
Talanta ; 50(5): 1027-33, 1999 Dec 06.
Artículo en Inglés | MEDLINE | ID: mdl-18967797

RESUMEN

The electrochemistry of dopamine (3-hydroxytyramine) was studied by cyclic voltammetry at a glassy carbon electrode in the presence of cetyltrimethylammonium bromide (CTAB) and sodium dodecyl sulfate (SDS) micelles at different pH. The anodic peak potential (E(pa)) and peak current (I(pa)) were found to be remarkably dependent on the charge and the concentration of the surfactant. The E(pa) and I(pa) change abruptly around the critical micellar concentration (CMC) of the surfactants and reach a plateau above the CMC. The E(pa) at the plateau shifts to more positive values in the cationic CTAB micellar solution, e.g. from 180 mV vs SCE in aqueous solution at pH 6.8 to 410 mV in CTAB micelle, whilst it shifts to less positive values in the anionic SDS micellar solution, e.g. 150 mV at pH 6.8. Therefore, the overlapped anodic peaks of dopamine and ascorbic acid in the mixture of the two compounds in aqueous solutions can be separated in CTAB micelles since the micelle shifts the E(pa) of ascorbic acid to less positive values. The two peaks are separated by ca. 400 mV at pH 6.8 in CTAB micelle, hence dopamine can be determined in the presence of 100 times excess of ascorbic acid. In SDS micelle and in the presence of ascorbic acid, the I(pa) of dopamine is greatly enhanced due to the catalytic oxidation of the latter that enables quantitative determination of both compounds.

12.
Space Med Med Eng (Beijing) ; 12(6): 423-5, 1999 Dec.
Artículo en Chino | MEDLINE | ID: mdl-12434808

RESUMEN

Objective. To investigate the effect of simulated weightlessness on proliferation of spleen lymphocyte, production of interleukin-2 and expression of c-fos proto-oncogene in mice. Method. Mice were tail-suspended for 7 or 14 days to simulate the effect of weightlessness; proliferation of lymphocyte was measured by MTT method, production of IL-2 was determined by biological activity and expression of c-fos proto-oncogene was determined by dot blotting. Result. As compared with the control, the proliferation of spleen lymphocyte and the production of IL-2 were significantly decreased in 14 d suspended group, but the expression of c-fos proto-oncogene [correction of oncogen] was increased in both 7 d and 14 d suspended groups. Conclusion. This result suggested that simulated weightlessness could interfere with the genes regulating the lymphocyte.


Asunto(s)
Expresión Génica , Genes fos/genética , Interleucina-2/metabolismo , Linfocitos/fisiología , Bazo/citología , Simulación de Ingravidez , Animales , Suspensión Trasera , Ratones , Proto-Oncogenes
13.
Perspect Dev Neurobiol ; 5(2-3): 305-22, 1998.
Artículo en Inglés | MEDLINE | ID: mdl-9777645

RESUMEN

GABA is formed primarily from decarboxylation of glutamate by a family of cytosolic and membrane-bound GAD enzymes. In the adult, GAD-derived GABA sustains the vitality of the central nervous system (CNS), since blockage of GAD rapidly leads to convulsions and death. In plants, cytosolic GAD synthesizes GABA in response to hormones and environmental stress. Since decarboxylation involves protonation, secretion of GABA serves to buffer cytosolic pH in plant cells. Families of GAD and GABAA receptor/Cl- channel transcripts and encoded proteins emerge early and seemingly everywhere during CNS development, with their abundance closely paralleling neurogenesis and peaking before birth. Micromolar GABA acts at receptor/Cl-channels to depolarize progenitor cells in the cortical neuroepithelium; it also elevates their cytosolic Ca2+ (Cac2+) levels. In some way, these effects decrease proliferation. GABA directs the migration of postmitotic neuroblasts at femtomolar concentrations and stimulates their random motility at micromolar concentrations via Ca2+ signaling mechanisms. Activation of GABAA receptors by micromolar GABA may limit motility via membrane depolarization and elevated Cac2+. These results indicate that in vitro GABA can affect embryogenesis of the CNS through effects on cell proliferation and migration. As neurons differentiate postnatally, Cl(-)-dependent depolarization disappears together with GABAergic Cac2+ signals. Physiologically occurring GABAergic signals at Cl-channels exist in tonic and transient forms. Since the former are found on progenitor cells while both are present in postmitotic neurons, mechanisms to generate transients differentiate in the latter. Surprisingly, tonic and transient forms of GABAergic signaling at Cl-channels are rapidly and smoothly interconvertible and seem to be derived from online GABA synthesis in a surface-accessible compartment of the membrane.


Asunto(s)
Sistema Nervioso Central/citología , Sistema Nervioso Central/crecimiento & desarrollo , Neuronas/fisiología , Transducción de Señal/fisiología , Ácido gamma-Aminobutírico/fisiología , Animales , Sistema Nervioso Central/fisiología , Humanos , Neuronas/citología , Transducción de Señal/efectos de los fármacos , Ácido gamma-Aminobutírico/metabolismo
14.
J Infect Dis ; 174(5): 1101-5, 1996 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-8896516

RESUMEN

Human herpesvirus (HHV) type 8 has been detected in both classical and AIDS-related Kaposi's sarcoma, body-cavity lymphomas, and other types of tumors. HHV-8 has also been detected in DNA from peripheral blood mononuclear cells (PBMC) of some Kaposi's sarcoma patients and more readily in B cell fractions derived from panned cell subpopulations. Two patients were followed using several methods; in situ hybridization, solution-based polymerase chain reaction (PCR), and in situ PCR. HHV-8 was intermittently detected in plasma, and detection correlated with detection in PBMC. In situ PCR demonstrated HHV-8 sequences in both peripheral blood B lymphocytes and, to a lesser extent, T lymphocytes. HHV-8 may undergo periods of viremia while at other times it is undetectable and infects circulating B cells and some T cells.


Asunto(s)
Linfocitos B/virología , ADN Viral/sangre , Herpesvirus Humano 8/aislamiento & purificación , Sarcoma de Kaposi/virología , Linfocitos T/virología , Adulto , Herpesvirus Humano 8/genética , Humanos , Masculino , Persona de Mediana Edad , Reacción en Cadena de la Polimerasa , Viremia/virología
16.
Chin Med J (Engl) ; 106(11): 809-13, 1993 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-8143491

RESUMEN

Cerebral spinal fluid (CSF) pulse waveform basing on 899 records was classified. Eleven types of CSF pulse waveform were further classified according to the harmonic wave relation and the configuration of the pulse waveform. The characteristic features of various types of CSF pulse waveform were considered to reflect certain intracranial pathophysiological conditions including cerebral compliance, cerebral vasomotor reactivity and intracranial elastance.


Asunto(s)
Lesiones Encefálicas/fisiopatología , Líquido Cefalorraquídeo/fisiología , Trastornos Cerebrovasculares/fisiopatología , Presión Intracraneal , Humanos , Monitoreo Fisiológico , Sistema Vasomotor
18.
Chin Med J (Engl) ; 104(7): 557-61, 1991 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-1879218

RESUMEN

Synthetic corticotropin-releasing factor (CRF) was administered pre-operatively to five patients who underwent craniotomy for brain tumors, acute subdural and intracerebral hematomas. After craniotomy, an intraventricular catheter is placed in the ventricle, on the normal side of brain. This is for intracranial pressure monitoring. The data obtained were pooled and compared with the saline group (n = 6). The CRF group was found to have statistically significant difference (P less than 0.01). This preliminary study showed that CRF decreases postoperative edema.


Asunto(s)
Edema Encefálico/tratamiento farmacológico , Hormona Liberadora de Corticotropina/uso terapéutico , Complicaciones Posoperatorias/tratamiento farmacológico , Adulto , Anciano , Anciano de 80 o más Años , Astrocitoma/cirugía , Neoplasias Encefálicas/cirugía , Femenino , Hematoma Subdural/cirugía , Humanos , Masculino , Persona de Mediana Edad
20.
Aviat Space Environ Med ; 61(8): 729-31, 1990 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-2400377

RESUMEN

Experiments were carried out on mice and the subjects irradiated for cancer therapy to evaluate the protective efficacy of a Chinese medicinal herb-compound (CMHC). The lethality and the degree of leucopenia caused by radiation in mice medicated with CMHC were significantly less in comparison with control mice (p less than 0.01 and p less than 0.001, respectively). CMHC significantly improved the WBC and the thrombocytes in irradiated workers (p less than 0.01 and p less than 0.001, respectively). The WBC count of 40 patients under radiotherapy while treated with CMHC recovered from 3450 +/- 77/c.mm to 5425 +/- 264/c.mm (p less than 0.001); whereas, in the control group, without any medication, the WBC count dropped significantly (p less than 0.001). Our results revealed the applicabilities of CMHC in protection against radiation damage in spaceflight and in other fields.


Asunto(s)
Asparagina/uso terapéutico , Medicamentos Herbarios Chinos/uso terapéutico , Hemostáticos/uso terapéutico , Leucopenia/tratamiento farmacológico , Fenilpropionatos , Radioterapia/efectos adversos , Sitoesteroles/uso terapéutico , Animales , Asparagina/administración & dosificación , Medicamentos Herbarios Chinos/administración & dosificación , Glucósidos , Humanos , Incidencia , Leucopenia/epidemiología , Leucopenia/etiología , Ratones , Neoplasias/radioterapia , Traumatismos Experimentales por Radiación/tratamiento farmacológico , Sitoesteroles/administración & dosificación
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