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RESUMO Objetivo investigar o efeito inibitório da via auditiva eferente na síndrome de Turner e relacionar com o perfil citogenético. Método estudo descritivo transversal com grupo de comparação. Amostra: Grupo estudo formado por 40 pacientes com síndrome de Turner (17,6 anos); e Grupo controle constituído por 54 indivíduos (18,9 anos), do sexo feminino sem síndrome. Os indivíduos selecionados foram submetidos à pesquisa do efeito inibitório da via auditiva eferente. Resultados A média do Efeito inibitório da via auditiva eferente no grupo estudo na orelha direita foi 0,4 dB e no grupo comparação foi de 1,9 dB, entretanto na orelha esquerda a média do efeito inibitório da via auditiva eferente foi 1,4 dB no grupo estudo e 0,8 dB no grupo comparação. O efeito inibitório da via auditiva eferente foi presente em 14 indivíduos com monossomia e em 15 com outras alterações citogenéticas. Conclusão No grupo estudo o valor do efeito inibitório da via auditiva eferente foi significantemente maior na orelha esquerda e significativamente menor que o grupo controle na direita. Não houve diferença significativa no efeito inibitório da via auditiva eferente entre os tipos de cariótipo.
ABSTRACT Purpose The goal of this study is to investigate the efferent auditory pathways inhibition in Turner's syndrome and to relate it to the cytogenetic profile. Methods This is a cross-sectional study with a comparison group. A sample with 94 participants divided into two groups: The study group was a sample of 40 patients diagnosed with Turner's syndrome (17.6 years of age). The control group was composed of 54 volunteers (18.9 years of age), female, without syndrome. The selected individuals were submitted to efferent auditory pathways inhibition research. Results The mean of the inhibitory effect of the efferent auditory pathway in the study group in the right ear was 0.4 dB and in the comparison group it was 1.9 dB, however in the left ear the mean of the inhibitory effect of the efferent auditory pathway was 1.4 dB in the study group and 0.8 dB in the comparison group. The inhibitory effect of the efferent auditory pathway was present in 14 individuals with monosomy and in 15 with other cytogenetic alterations. Conclusions In the study group, the efferent auditory pathways inhibition value was significantly higher in the left ear and significantly lower than the control group in the right ear. There was no significant difference in efferent auditory pathways inhibition of right ear and left ear between the karyotype types.
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Background: The previously reported circulating human antibodies against the Bovine Milk Fat Globule Membrane (BMFGM) were found to primarily target xanthine oxidase (XO) enzyme that produces uric acid and reactive oxygen species. It is suggested that XO could potentially be implicated in the pathogenesis of acute myocardial infarction. Methods: In this study, anti-BMFGM and anti-XO IgG, IgM and IgA antibodies were assayed in the sera of acute myocardial infarction patients and healthy control from the Jordanian population using the highly sensitive Enzymelinked immunosorbent assay (ELISA). Results: Serum high in antibodies against xanthine oxidase was used as a reference serum to standardize the assay. The levels of anti-BMFGM IgM antibodies were found to be higher in male controls than myocardial infarction male patients in contrast to female group, but no significant differences were observed in the levels of IgG and IgA antibodies. The levels of anti-xanthine oxidase IgM and IgG antibodies were significantly higher in myocardial infarction patients when compared with their corresponding controls. Conflicting results were obtained when different personnel measured the IgM antibody titres, likely due to infarction factors of IgM aggregation within the assay. Results from this study demonstrate significant differences in the levels of antiMFGM and anti-XO IgM antibodies between myocardial infarction patients and controls. Conclusion: Collectively, the data suggest that XO may be a risk factor in myocardial infarction patients and the presence of antibodies may act as a protective factor
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In the present study, Globularia alypum (GA) was extracted with solvent of varying polarity allowed its separation into four subtractions: crude extract (CrE) chloroform extract (ChE), ethyl acetate extract (AcE) and aqueous extracts (AqE). The results showed that AcE had the highest content of phenolic compounds. The inhibitory activity of the extracts on xanthine oxidase (XO) was evaluated, the results obtained showed that the inhibition is dose-dependent and the AcE had a very significant inhibitory effect (0.069 ± 0.003 mg/ml) followed by CrE and AqE (0.081 ± 0.000 et 0.088 ± 0.002 mg/ml, respectively). The CrE, ChE and AqE inhibit competitively XO, whereas AcE is a non-competitive inhibitor. Hyperuricemia was induced by intraperitoneally injection of potassium oxonate, the uric acid, urea and creatinine were measured in serum and liver supernatant. The ChE, AcE, and AqE extracts had reduced significantly the plasma and liver uric acid levels (decreased 44.76%, 43.03% and 31.31%, respectively). Comparing these results with those obtained in vitro, the ChE extract with the lowest inhibitory effect in vitro (IC50 = 0,123 mg / ml) was the most effective extract in vivo. In summary, there was a contradiction between inhibition in vitro and in vivo, this inconsistency or difference may be due to the difference in the bioavailability of flavonoids or natural substances and their extensive metabolism in mice.
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Objective To analyze the differences between the semi-quantitative RT-PCR and real time quantitative fluorescence RT-PCR assays for detecting XDH/XO mRNA expression in various organ tissues of rhesus monkey, and provide useful reference in methodology of experimental studies.Total RNA was extracted from the myocardium, kidney, testis, skin, and liver tissues, respectively, for detecting XDH/XO mRNA expression in rhesus monkey by semi-quantitative RT-PCR and real time quantitative fluorescence RT-PCR assays.The sensitivity and specificity of the two assays were compared with each other using the same primer sequences and reference genes.Results The expression of XDH/XO mRNA in different organ tissues were detected by both the two PCR assays.The sensitivity of quantitative fluorescence real-time RT-PCR for the XDH/XO mRNA expression in the liver tissue was 39 times higher than that by semi-quantitative RT-PCR.Conclusions Both the quantitative and semi-quantitative fluorescence RT-PCR assays can be used to detect the expression of XDH/XO mRNA in different organ tissues of rhesus monkey.The sensitivity of quantitative fluorescence real-time PCR assay is more sensitive than that of the semi-quantitative RT-PCR assay.
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Antecedentes: La leucemia linfoblástica aguda (LLA) es un padecimiento oncológico importante en la población pediátrica mexicana, cuya base genética pudiera modificar la efectividad de la quimioterapia del antifolato metotrexato (MTX) y el tiempo de sobrevida libre de enfermedad y la sobrevida total. Objetivo: Determinar la asociación de 10 polimorfismos genéticos de la vía del folato: en transportadores celulares (COL18A1, SLC19A1, ABCB1 y ABCC5) y las enzimas folilpoliglutamil sintetasa (FPGS) y xantina oxidasa (XO), con la sobrevida de los niños con leucemia linfoblástica aguda. Métodos: En el Centro Estatal de Cancerología de Durango- México, se estudiaron 39 niños con leucemia linfoblástica aguda tratados con MTX y 102 controles sin la enfermedad, a quienes mediante qPCR, se les determinaron 10 polimorfismos en la vía del folato. Durante 5 años de seguimiento se determinó la sobrevida libre de enfermedad y la sobrevida total, y su relación con su genotipo. Resultados: Cuatro polimorfismos no estuvieron en equilibrio de Hardy-Weinberg COL18A1 (rs2274808), ABCC5 (rs9838667 y rs3792585) y XO (rs17011368). Únicamente el rs17011368 de XO se asoció con riesgo de estar presente en los pacientes con leucemia linfoblástica aguda cuyo OR fue 9.771(IC95% 4.974-19.196, p=0,001). El FPGS (rs1544105) afectó la sobrevida libre de enfermedad y la sobrevida total (Log Rank p<0.05). Conclusiones: El polimorfismo (rs17011368) de la XO presentó riesgo para leucemia linfoblástica aguda; así mismo, se encontró una asociación importante entre los portadores del polimorfismo FPGS (rs1544105) que modificaría la sobrevidas de los pacientes tratados con MTX.
Background: Acute lymphoblastic leukemia (ALL) is a major cancer disease in Mexican pediatric population, were the genotype could affect the effectiveness of chemotherapy in which the methotrexate (MTX) is involved and consequently the time of disease free survival and overall survival. Objective: Determine the association of 10 genetic polymorphisms of the folate pathway: in cellular carriers (COL18A1, SLC19A1, ABCB1 and ABCC5) and in enzymes such as folylpolyglutamate synthetase (FPGS) and xanthine oxidase (XO), with survival of children with acute lymphoblastic leukemia. Methods: Thirtynine children with acute lymphoblastic leukemia from the State Cancer Center in Durango (Mexico) treated with MTX and 102 healthy controls, were qPCR analyzed for 10 polymorphisms in the folate pathway. During 5 years of follow up, the disease-free survival and overall survival rates were investigated in relation with their genotypes. Results: Four polymorphisms were not found in Hardy-Weinberg Equilibrium COL18A1 (rs2274808), ABCC5 (rs9838667 and rs3792585) and XO (rs170113685). Only XO (rs170113685) was associated with risk of being present in patients with ALL whose odds ratio was 9.771 (95% 4.974-19.196, p=0.001). The polymorphism rs1544105 for FPGS affected disease free survival and overall survival (Log Rank test p<0.05). Conclusion: Polymorphism (rs17011368) of XO showed risk association for acute lymphoblastic leukemia; likewise, an important association was found between carriers of the FPGS (rs1544105) and increased survival times of patients treated with methotrexate.
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Humans , Child , Precursor Cell Lymphoblastic Leukemia-Lymphoma , Polymorphism, Genetic , MethotrexateABSTRACT
Pandiaka angustifolia (Vahl) Hepper, a species belonging to Amaranthaceae’s family is used in traditional medicine of Burkina Faso for the treatment of several diseases. The aim of this study was to evaluate the phenolics and flavonoids content, the antioxidant capacity, the lipoxygenase and xanthine oxidase inhibition potentials of Pandiaka angustifolia hydroacetonic macerate and fractions. Assay revealed that the Dichloromethane Fraction (DCMF) possess the best inhibitory activity of lipoxygenase, a key enzyme involved in inflammatory process with 83.84±1.89% of inhibition, as regards Xanthine Oxidase (XO) inhibiting percentage, n-hexane fraction (n-HF) exhibited the highest percentage of inhibition with 76.22 ± 4.78% at a concentration of 100μg/ml. Phenolics and flavonoids content in fractions and hydroacetonic macerate evaluation showed that hydroacetonic macerate possess the highest rate in total phenolic and the Dichloromethane fraction (DCMF) the highest rate in flavonoids content. This study showed that the apolar fractions of P. angustifolia is a potential natural source for the treatment of oxidative stress and inflammatory related diseases.
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The present study was aimed at investigating the in vivo hypouricaemic activity of the various fractions of the hydromethanolic extract of the leaves of Erythrina stricta roxb (papilionacea) using oxonate-induced hyperuricaemic mice. The leaves of this species was used in traditional medicinal system for the treatment of gout, rheumatism, jaundice, bronchitis, fever, skin eruptions, wounds, etc. The pet-ether, chloroform, ethyl acetate and residual fractions at a dose of 200 mg/kg b.w. orally, were tested for their ability to reduce the serum urate level and inhibitory actions on the XO/XDH enzyme activities in the mouse liver and intestine. Potassium oxonate (280 mg/kg, i.p.), an uricase inhibitor was used to induce hyperuricaemia. Allopurinol (10 mg/kg, p.o.) was used as the positive control. The pet-ether, chloroform and ethyl acetate fractions when administered to hyperuricaemic mice produced a significant reduction in serum urate levels. In addition, these fractions elicited significant inhibitory actions on the XO/XDH enzyme activities in the mouse liver. The hypouricaemic activity may be due to the inhibition of XO/XDH enzymes. The effect of the fractions was less potent than allopurinol. The activity produced by the residual fraction was insignificant (P>0.05). Phytochemical screening of the leaves of Erythrina stricta revealed the presence of tannins, flavonoids, alkaloids and terpenoids. The presence of phytochemical constituents may be partly responsible for the beneficial effect of the fractions on hyperuricaemia and gout. These results suggest that the leaves of Erythrina stricta could be used as a potential source to treat gout and other inflammatory disorders.
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This study was performed to investigate effect of dried powders and ethanol extracts of garlic flesh and peel on antioxidative capacity in 16-month- old rats. Forty Sprague-Dawley male rats weighing 618.1 +/- 6.5 g were blocked into five groups according to body weight and raised for 3 months with experimental diets containing 5% (w/w) of dried powders of garlic flesh or peel, or ethanol extracts from equal amount of each dried powder. Total polyphenols, flavonoids, beta-carotene, vitamin C, vitamin E, and total antioxidant status (TAS) levels were determined in garlic preparations. Thiobarbituric acid reactive substances (TBARS) levels in plasma, liver and VLDL + LDL fraction, oxidative DNA damage (8-hydroxy-2'-deoxyguanosine, 8OHdG) in kidney, xanthine oxidase (XO) activities in plasma and liver, superoxide dismutase (SOD) activities in erythrocyte and liver, and carotenoid concentration, and total antioxidant status (TAS) in plasma were measured. Total polyphenols and flavonoids contents in garlic preparations were highest in peel ethanol extract. Vitamin C content was not different significantly among preparations, but peel powder contains slightly more vitamin C. The content of beta-carotene was highest in peel ethanol extract and vitmain E content was highest in flesh ethanol extract. The highest level of TAS was observed in peel ethanol extract. Plasma TBARS levels in all the experimental groups were found to be significantly lower than control group, and TBARS concentration in VLDL + LDL fraction was decreased in all the experimental groups in comparison to control group. Also levels of 8OHdG in kidney in experimental groups were lower than that of control group. Plasma and liver XO activities were decreased in all experimental groups, and erythrocyte and liver SOD activities were higher in experimental groups compared to control group. All experimental groups also showed higher plasma TAS levels than control group. Especially, garlic flesh powder group was significantly lower in plasma and liver XO activities, and significantly higher in erythrocyte and liver SOD activities than control group. Moreover, plasma TBARS level and kidney 8OHdG level were decreased in flesh powder group. In conclusion, garlic diets showed effect of improving antioxidative capacity in 16-month old rats, especially, garlic flesh powder was prominent in inhibiting XO activitiy, promoting SOD activity and decreasing kidney 8OHdG level among experimental groups.
Subject(s)
Animals , Humans , Infant , Male , Rats , Ascorbic Acid , beta Carotene , Body Weight , Diet , DNA Damage , Erythrocytes , Ethanol , Flavonoids , Garlic , Kidney , Liver , Plasma , Polyphenols , Powders , Rats, Sprague-Dawley , Superoxide Dismutase , Thiobarbituric Acid Reactive Substances , Vitamin E , Vitamins , Xanthine OxidaseABSTRACT
A 24-year Korean woman presented with bizarre pigmentary skin changes. Eruptive vellus hair cysts (EVHC) were observed in conjunction with Hypomelanosis of Ito (HI). Also, the karyotype of 45XO with typical clinical symptoms of Turner's syndrome was detected in this patient, which has been rarely reported in HI as a chromosomal defect. EVHC may manifest as a rare skin manifestation of Hl.
Subject(s)
Female , Humans , Hair , Hypopigmentation , Karyotype , Skin , Skin Manifestations , Turner SyndromeABSTRACT
PURPOSE: We investigated the clinical characteristics and relationship between chromosome and its phenotypic expression in patients with 45 XO/46XY mosaicism or 45 XO with SRY gene. MATERIALS AND METHODS: 11 patients with 45XO/46XY chromosomal abnormality and 4 patients with 45XO with SRY positive reaction admitted from 1990 to 1996 were evaluated. Patients were grouped according to chromosome and gonadal expression. Group A consisted of patients with 45XO/46XY chromosome and unilateral streak gonad, group B patients with 45XO chromosome, SRY positive reaction and unilateral streak gonad and group C patients with 45XO/46XY chromosome and bilateral streak gonads. RESULTS: Of the total 15 patients, the number of patients in group A, B, and C were 8, 4, and 3, respectively. SRY gene was positive in all group A and B patients but only one patient was positive in group C. Of the 8 patients in group A, 5 patients had a high XY mosaicism ratio compared to XO whereas an equal ratio was observed in the remaining 3 patients. Of the 4 male penotype patients only 1 patient had a high XY mosaicism ratio compared to XO while 3 patients displayed an equal ratio. There was no difference in associated anomaly and the degree of severity of ambiguity according to the mosaicism ratio in all patients. CONCLUSIONS: There was no definite correlation between the mosaicism ratio and phenotypic expression. Presence of SRY gene in 45XO patients may suggest MGD(mixed gonadal dysgenesis) and therefore, the evaluation SRY gene could be useful in the diagnosis of 45XO patients with ambiguous genitalia.
Subject(s)
Humans , Male , Chromosome Aberrations , Diagnosis , Disorders of Sex Development , Genes, sry , Gonadal Dysgenesis, Mixed , Gonads , MosaicismABSTRACT
Turner's syndrome results from complete or partial monosomy of the X chromosome and is characterized by hypogonadism or related other congenital anomalies in phenotypic females. In these patients, there are failure to develop normal secondary sex characteristics, amenorrhea, or short stature at puberty and the ovaries are reduced to atrophic fibrous strands devoid of ova and follicles(streak gonads). Individuals with this condition are particularly prone to the development of gonadoblastoma. For this reason, the gonads should be early removed and supplemental estrogen therapy given. We experienced a case of Turner's syndrome, 45, XO/46, XY karyotype in a 20-year-old phenotypic female complained an amenorrhea. On the exploratory laparotomy, the right gonadal mass is sevearly adhered to the adjacent organs and measures 8 x 5 x 5 cm in dimension and 75gm in weight and shows multiple foci of hemorrhage with necrosis. The left streak gonad measures 3.5 x 2 x 1.5 cm in dimension and shows multiple foci of calcification. Microscopically, the right gonadal mass reveals malignant mixed germ cell tumor, composed of endodermal sinus tumor, composed of endodermal sinus tumor with dysgerminoma and gonadoblastoma. The left streak gonad consists of mainly dense fibrous connective tissue and shows some foci of calcification associated with gonadoblastoma. On immunohistochemical and special stainings, the cytoplasm and hyalin droplets of the endodermal sinus tumor component reveal strong positivity to the a-fetoprotein and PAS. After removal of both gonads, the serum level of the a-fetoprotein is markedly down from 1742ng/ml to 2.6 ng/ml.