Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 9 de 9
Filtrar
Mais filtros










Base de dados
Intervalo de ano de publicação
1.
BMC Pediatr ; 22(1): 234, 2022 04 29.
Artigo em Inglês | MEDLINE | ID: mdl-35488223

RESUMO

BACKGROUND: To investigate hypothalamic-pituitary-thyroid function in children of different ages, nutritional phases, and genotypes that were diagnosed with Prader-Willi syndrome (PWS), as well as the effects of recombinant human growth hormone (rhGH) treatment on thyroid hormones in PWS patients. METHODS: One hundred and thirty PWS patients (87 boys and 43 girls) aged from newborn to 15 years (y) (median 1.25 y, mean, SD: 2.95 ± 3.45 y), were surveyed in this study. Serum thyroid hormone levels were examined at least once per3-6 months during the 2 years follow-up study. Central hypothyroidism (C-HT) was identified as low/normal thyroid-stimulating hormone (TSH) and low free thyroxine 4 (FT4). RESULTS: All study participants had normal neonatal TSH screening test results. The prevalence of C-HT is 36.2% (47/130). No C-HT cases were diagnosed in PWS either below 1 month (m) or above 12 y. The prevalence of C-TH would be increased with age before 3 y until reaching the peak, followed by a gradual decline over the years. The prevalence of C-HT varies significantly at different ages (Pearson's χ2 = 19.915; p < 0.01). However, there is no correlation between the C-HT prevalence and nutritional phases (Pearson's χ2 = 4.992; p = 0.288), genotypes (Pearson's χ2 = 0.292; p = 0.864), or rhGH therapy (Pearson's χ2 = 1.799; p = 0.180). CONCLUSIONS: This study suggests the prevalence of C-TH was increased with the age before 3 y, and reached the peak in the 1 to 3 y group, then gradually declined over the years. There is no correlation between C-HT prevalence and nutritional phases, genotypes, or rhGH treatment.


Assuntos
Hormônio do Crescimento Humano , Síndrome de Prader-Willi , Adolescente , Criança , Pré-Escolar , Feminino , Seguimentos , Hormônio do Crescimento Humano/uso terapêutico , Humanos , Lactente , Recém-Nascido , Masculino , Síndrome de Prader-Willi/diagnóstico , Síndrome de Prader-Willi/tratamento farmacológico , Estudos Retrospectivos , Glândula Tireoide , Tireotropina
2.
Calcif Tissue Int ; 110(2): 266-271, 2022 02.
Artigo em Inglês | MEDLINE | ID: mdl-34487203

RESUMO

X-linked hypophosphatemic rickets (XLH) is the most common form of hypophosphatemic rickets, which is caused by the deficiencies of PHEX gene with an X-linked dominant inheritance pattern. As at least several thousands of XLH patients have been diagnosed, only several males and fewer females with mosaicism of PHEX gene were found. Here we describe an XLH girl with two de novo mosaic variants within the same site of PHEX gene. To rapidly screen all of the causative genes of hypophosphatemic rickets and rule out other diseases, DNA samples were initially analyzed using whole exome sequencing (WES). Interestingly, two different pathogenic mosaic variants, a known c.1809G > A(p.W603*) variant and a novel c.1809G > T(p.W603C) variant within the same site of PHEX gene, were identified in the proband by WES. Subsequent Sanger sequencing confirmed the presence and de novo pattern of these two mosaic variants in the proband, which were absent in her healthy parents. This is the first case to report two different mosaic variants of PHEX gene in an XLH individual. This XLH girl has a de novo mosaic genotype of c.1809 = /G > T/G > A in PHEX gene. Our report adds an unusual mocaicism case for XLH and expands the mutational event and spectrum of PHEX gene. Our report also alerts clinicians and geneticists to be cautious about mocaicism and detection methods.


Assuntos
Raquitismo Hipofosfatêmico Familiar , Doenças Genéticas Ligadas ao Cromossomo X , Endopeptidase Neutra Reguladora de Fosfato PHEX , Raquitismo Hipofosfatêmico Familiar/genética , Feminino , Doenças Genéticas Ligadas ao Cromossomo X/genética , Genótipo , Humanos , Masculino , Mutação , Endopeptidase Neutra Reguladora de Fosfato PHEX/genética
4.
Pediatr Diabetes ; 19(2): 251-258, 2018 03.
Artigo em Inglês | MEDLINE | ID: mdl-28791793

RESUMO

BACKGROUND: Sulfonylurea therapy can improve glycemic control and ameliorate neurodevelopmental outcomes in patients suffering from neonatal diabetes mellitus (NDM) with KCNJ11 or ABCC8 mutations. As genetic testing results are often delayed, it remains controversial whether sulfonylurea treatment should be attempted immediately at diagnosis or doctors should await genetic confirmation. OBJECTIVE: This study aimed to investigate the effectiveness and safety of sulfonylurea therapy in Chinese NDM patients during infancy before genetic testing results were available. METHODS: The medical records of NDM patients with their follow-up details were reviewed and molecular genetic analysis was performed. Sulfonylurea transfer regimens were applied in patients diagnosed after May 2010, and glycemic status and side effects were evaluated in each patient. RESULTS: There were 23 NDM patients from 22 unrelated families, 10 had KCNJ11 mutations, 3 harbored ABCC8 mutations, 1 had INS mutations, 4 had chromosome 6q24 abnormalities, 1 had a deletion at chromosome 1p36.23p36.12, and 4 had no genetic abnormality identified. Sixteen NDM infants were treated with glyburide at an average age of 49 days (range 14-120 days) before genetic confirmation. A total of 11 of 16 (69%) were able to successfully switch to glyburide with a more stable glucose profile. The responsive glyburide dose was 0.51 ± 0.16 mg/kg/d (0.3-0.8 mg/kg/d), while the maintenance dose was 0.30 ± 0.07 mg/kg/d (0.2-0.4 mg/kg/d). No serious adverse events were reported. CONCLUSIONS: Molecular genetic diagnosis is recommended in all patients with NDM. However, if genetic testing results are delayed, sulfonylurea therapy should be considered before such results are received, even in infants with newly diagnosed NDM.


Assuntos
Diabetes Mellitus/tratamento farmacológico , Glibureto/uso terapêutico , Hipoglicemiantes/uso terapêutico , Doenças do Recém-Nascido/tratamento farmacológico , China , Deleção Cromossômica , Transtornos Cromossômicos/tratamento farmacológico , Transtornos Cromossômicos/genética , Cromossomos Humanos Par 1/genética , Estudos de Coortes , Análise Mutacional de DNA , Diabetes Mellitus/genética , Relação Dose-Resposta a Droga , Monitoramento de Medicamentos , Feminino , Seguimentos , Glibureto/administração & dosagem , Glibureto/efeitos adversos , Hospitais Pediátricos , Humanos , Hipoglicemiantes/administração & dosagem , Hipoglicemiantes/efeitos adversos , Lactente , Recém-Nascido , Doenças do Recém-Nascido/genética , Insulina/efeitos adversos , Insulina/química , Insulina/genética , Insulina/uso terapêutico , Masculino , Mutação , Canais de Potássio Corretores do Fluxo de Internalização/química , Canais de Potássio Corretores do Fluxo de Internalização/genética , Receptores de Sulfonilureias/química , Receptores de Sulfonilureias/genética
5.
Environ Sci Technol ; 42(2): 354-60, 2008 Jan 15.
Artigo em Inglês | MEDLINE | ID: mdl-18284130

RESUMO

A mathematical environmental transport model of roadside applied herbicides at the site scale (approximately 100 m) was stochastically applied using a Monte-Carlo technique to simulate the concentrations of 33 herbicides in stormwater runoff. Field surveys, laboratory sorption data, and literature data were used to generate probability distribution functions for model input parameters to allow extrapolation of the model to the regional scale. Predicted concentrations were compared to EPA acute toxicity end points for aquatic organisms to determine the frequency of potentiallytoxic outcomes. Results are presented for three geographical regions in California and two highway geometries. For a given herbicide, frequencies of potential toxicity (FPTs) varied by as much as 36% between region and highway type. Of 33 herbicides modeled, 16 exhibit average FPTs greater than 50% at the maximum herbicide application rate, while 20 exhibit average FPTs less than 50% at the minimum herbicide application rate. Based on these FPTs and current usage statistics, selected herbicides were determined to be more environmentally acceptable than others in terms of acute toxicity and other documented environmental effects. This analysis creates a decision support system that can be used to evaluate the relative water quality impacts of varied herbicide application practices.


Assuntos
Meio Ambiente , Herbicidas/análise , Modelos Teóricos , Poluentes Químicos da Água/análise , Simulação por Computador , Herbicidas/toxicidade , Método de Monte Carlo , Chuva , Movimentos da Água , Poluentes Químicos da Água/toxicidade , Poluição da Água/prevenção & controle
6.
Environ Toxicol Chem ; 24(9): 2336-40, 2005 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-16193763

RESUMO

Previous field monitoring at two highway sites found highway-applied herbicides in storm water runoff at maximum concentrations ranging from 10 microg/L for glyphosate and diuron to as high as 200 microg/L for oryzalin. To determine whether these herbicides at these concentrations can cause any toxicity to aquatic organisms, a standard toxicity study was conducted. Storm water was collected along Highway 37, Sonoma County, California, USA, and the herbicides isoxaben, oryzalin, diuron, clopyralid, and glyphosate were spiked into the storm water at the highest concentrations observed during the five previous field-monitoring campaigns. Three different toxicity studies were conducted and the results showed the following: No significant reduction in reproduction or increase in mortality relative to the control for an 8-d Ceriodaphnia (water flea) toxicity test; no significant increase in mortality or decrease in biomass compared to the control during a 7-d Pimephales (fish) toxicity test; and, in a 96-h Selenastrum (algae) toxicity test, both the 10-microg/L diuron treatment and the combined 50-microg/L isoxaben plus 200-microg/L oryzalin treatment produced significant (p < 0.05) reductions in algal growth compared to the controls, although the 30-microg/L clopyralid or 10-microg/L glyphosate treatments did not exhibit any toxic effects.


Assuntos
Monitoramento Ambiental/métodos , Herbicidas/toxicidade , Animais , Benzamidas/toxicidade , Daphnia , Dinitrobenzenos/toxicidade , Diurona/toxicidade , Condutividade Elétrica , Peixes , Glicina/análogos & derivados , Glicina/toxicidade , Herbicidas/química , Concentração de Íons de Hidrogênio , Fosfatos/química , Ácidos Picolínicos/toxicidade , Chuva , Sulfanilamidas/toxicidade , Temperatura , Testes de Toxicidade/métodos , Água , Movimentos da Água , Poluentes Químicos da Água , Glifosato
7.
Environ Sci Technol ; 38(12): 3263-71, 2004 Jun 15.
Artigo em Inglês | MEDLINE | ID: mdl-15260322

RESUMO

Herbicides are widely applied along highways to control roadside vegetation, and surface water is frequently nearby. To determine whether herbicide runoff along highways threatens water quality, a field study was conducted at two sites in northern California for three rainy seasons. The herbicides oryzalin, isoxaben, diuron, glyphosate, and clopyralid were selected for study to include compounds with significant variation in physical/chemical properties. Concentrations of herbicides in runoff were monitored for up to 11 storms following herbicide application, and 24 samples were collected per storm, providing unprecedented temporal detail. Flow-weighted event mean concentrations were calculated for each herbicide in each storm and ranged from below detection limits to 43.13 microg/L for oryzalin. The least soluble compounds, isoxaben and oryzalin, were detected in all storms monitored while the more soluble compounds, diuron and clopyralid, declined to levels below detection limits before monitoring was concluded. Very small amounts of glyphosate were mobilized, but its transformation product aminomethylphosphonic acid was detected at higher concentrations, in more storm events, and at greater depth in the soil profile. A first-order model successfully described the declining herbicide concentrations in spray zone soil and in surface runoff for all sites and herbicides. Fitted first-order coefficients were always higher for runoff than for soil, indicating that the herbicide that persists in the source zone becomes less available for runoff as the time since application increases. The percentage of the applied herbicide that was detected in surface runoff over a season ranged from 0.05% to 43.5%, and the most critical variables in controlling the variation were the solubility of the herbicide and the runoff volume. For a given herbicide and site, the most critical factors in determining seasonal herbicide loss to surface water were the timing and intensity of the first storm following application, affecting total seasonal runoff by up to 2 orders of magnitude. Minimizing runoff of herbicides along highways will thus require careful attention to the intrinsic mobility of the compound and the timing of its application.


Assuntos
Herbicidas/análise , Modelos Teóricos , Controle de Pragas , Chuva , Movimentos da Água , Monitoramento Ambiental , Estações do Ano , Solubilidade , Meios de Transporte
8.
Environ Sci Technol ; 38(12): 3272-8, 2004 Jun 15.
Artigo em Inglês | MEDLINE | ID: mdl-15260323

RESUMO

Controversy remains about the importance of nonlinear sorption isotherms, desorption rate limitations, and aging effects, collectively referred to as nonideal sorption processes, in controlling the fate and transport of organic contaminants. Herbicide runoff from highway soils represents a good test case for assessing the relative importance of nonideal sorption because runoff flow rates are often high, soil-water contacttimes are short, and significant time is available for contaminant aging after application. This study examines the sorption and desorption of five herbicides with a wide range of properties (isoxaben, oryzalin, diuron, clopyralid, and glyphosate) on soil samples from two roadsides in northern California and uses the results to examine field runoff data from multiple rainy seasons. Nonideal sorption processes do not appear to be significant in determining herbicide runoff at the field sites because (i) sorption isotherms were linear or slightly nonlinear for all compounds but glyphosate, (ii) field runoff concentration ratios between isoxaben and oryzalin were consistent with linear partitioning predictions, (iii) runoff leaving the site appeared to be in equilibrium with local soil concentrations, and (iv) desorption distribution coefficients for aged herbicides on soil samples collected from the field site did not differ substantially from those obtained in short-term laboratory adsorption experiments. Collectively, these findings indicate that linear equilibrium models are adequate for predicting the concentration of herbicides in runoff in these field settings and that more complicated nonideal models do not need to be invoked. Vegetated slopes effectively reduced the herbicide loads, with average removals of 35-80% occurring as runoff traversed a 3-m segment 1 m from the edge of the spray zone.


Assuntos
Herbicidas/análise , Herbicidas/química , Dinâmica não Linear , Controle de Pragas , Poluentes do Solo/análise , Adsorção , Chuva , Temperatura , Meios de Transporte , Movimentos da Água
9.
Acta Crystallogr C ; 58(Pt 10): o624-8, 2002 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-12359949

RESUMO

Syntheses and X-ray structural investigations have been carried out for (E)-(4-hydroxyphenyl)(4-nitrophenyl)diazene, C(12)H(9)N(3)O(3), (Ia), (E)-(4-methoxyphenyl)(4-nitrophenyl)diazene, C(13)H(11)N(3)O(3), (IIIa), and (E)-[4-(6-bromohexyloxy)phenyl](4-cyanophenyl)diazene, C(19)H(20)BrN(3)O, (IIIc). In all of these compounds, the molecules are almost planar and the azobenzene core has a trans geometry. Compound (Ia) contains four and compound (IIIc) contains two independent molecules in the asymmetric unit, both in space group P1 (No. 2). In compound (Ia), the independent molecules are almost identical, whereas in crystal (IIIc), the two independent molecules differ significantly due to different conformations of the alkyl tails. In the crystals of (Ia) and (IIIa), the molecules are arranged in almost planar sheets. In the crystal of (IIIc), the molecules are packed with a marked separation of the azobenzene cores and alkyl tails, which is common for the solid crystalline precursors of mesogens.

SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA
...