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1.
Health Soc Work ; 47(1): 28-35, 2022 Jan 31.
Artigo em Inglês | MEDLINE | ID: mdl-34878136

RESUMO

Latinx children with cancer generally have poorer health outcomes than their non-Latinx White counterparts. The purpose of this study was to examine the experience of Latinx mothers whose children have been diagnosed with cancer at the onset of symptoms, the barriers surrounding the diagnostic process, and the resources families identify are needed post-diagnosis. The researchers conducted two focus groups (one in Spanish, one in English) with Latina mothers of children who have or experienced pediatric cancer in the United States. Two researchers conducted constant comparative analysis of the transcribed focus group audio recordings to identify themes. Themes included a sense of community support at the onset of symptoms, feelings of disbelief, helplessness, overload of information, and a need for advocacy in medical settings. Needs included more palatable and simplified information, financial assistance and resources, increased parental social support, accessible Spanish-speaking providers, and culturally informed care. Latina mothers indicated a range of challenges pertaining to childhood cancer diagnosis and treatment that may impact child and family outcomes. Implications for social work practitioners to reduce disparities and develop intervention programs for Latinx families of children with cancer are discussed.


Assuntos
Neoplasias , Criança , Família , Hispânico ou Latino , Humanos , Pais , Apoio Social , Estados Unidos
2.
Gac Med Mex ; 156(Supl 3): S37-S42, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-33373352

RESUMO

Preterm labor accounts for more than 85% of perinatal morbidity, frequently requiring intensive care and presenting complications that can have consequences throughout the individual's life. More than half of preterm delivery cases have unknown causes and therefore no clear preventable etiology. From observation in epidemiological studies that demonstrated longer pregnancies in populations with high consumption of marine oils, attempts have been made to define the benefit of omega-3 polyunsaturated fatty acids (n-3 PUFA) prevention in premature childbirth through randomized clinical trials, as well as its preventive value. This review discusses the relationship between prenatal supplementation of n-3 long chain PUFA during pregnancy and the incidence of preterm delivery.


El parto prematuro protagoniza más del 85% de la morbilidad perinatal, requiere con frecuencia cuidados intensivos y presenta complicaciones que pueden tener consecuencias a lo largo de la vida del individuo. Más de la mitad de los casos de parto pretérmino tienen causas desconocidas y por lo tanto ninguna etiología clara prevenible. Desde la observación en estudios epidemiológicos que demostraron embarazos más largos en poblaciones con alto consumo de aceites marinos se ha tratado de definir por medio de ensayos clínicos aleatorizados el beneficio de suplementos de ácidos grasos poliinsaturados omega-3 (AGPI n-3) prevenir el parto prematuro, así como su valor preventivo. Esta revisión discute la relación entre la suplementación prenatal de n-3 de cadena larga durante el embarazo y la incidencia de parto prematuro.


Assuntos
Ácidos Graxos Ômega-3 , Nascimento Prematuro , Adulto , Ácidos Graxos Ômega-3/uso terapêutico , Feminino , Humanos , Gravidez , Nascimento Prematuro/prevenção & controle
3.
Reprod Biol Endocrinol ; 16(1): 100, 2018 Oct 19.
Artigo em Inglês | MEDLINE | ID: mdl-30340493

RESUMO

BACKGROUND: FSHR SNPs may influence the ovarian sensitivity to endogenous and exogenous FSH stimulation. Given the paucity of data on the FSHR c.919A > G, c.2039A > G and - 29G > A SNPs in Hispanic population, we here analyzed their frequency distribution in Mexican mestizo women. METHODS: Samples from 224 Mexican mestizo women enrolled in an IVF program as well as a genotype database from 8182 Mexican mestizo subjects, were analyzed for FSHR SNPs at positions c.919, c.2039 and - 29G > A. Association between the genetic variants and reproductive outcomes was assessed. RESULTS: The c.919 and c.2039 SNPs were in strong linkage disequilibrium and their corresponding genotype frequencies in the IVF group were: AA 46.8%, AG 44.2%, and GG 8.9%, and AA 41.9%, AG 48.2% and GG 9.8%, respectively. For the -29G > A SNP, genotype frequencies were 27% (GG), 50% (GA) and 23% (AA). In normal oocyte donors with the c.2039 GG genotype, the number of oocytes recovered after ovarian stimulation (COS) were significantly (p < 0.01) lower than in those bearing other genotypes in this or the -29G > A SNP. Analysis of the large scale database revealed that both allelic and genotype frequencies for the three SNPs were very similar to those detected in the IVF cohort (p ≥ 0.38) and that female carriers of the c.2039 G allele tended to present lower number of pregnancies than women bearing the AA genotype; this trend was stronger when women with more Native American ancestry was separately analyzed (OR = 2.0, C.I. 95% 1.03-3.90, p = 0.04). There were no differences or trends in the number of pregnancies among the different genotypes of the -29G > A SNP. CONCLUSIONS: The frequency of the GG/GG combination genotype for the c.919 and c.2039 SNPs in Mexican hispanics is among the lowest reported. The GG genotype is associated with decreased number of oocytes recovered in response to COS as well as to lower pregnancy rates in Hispanic women from the general population. The absence of any effect of the -29AA genotype on the response to COS, indicates that there is no need to perform this particular genotype testing in Hispanic women with the purpose of providing an individually-tailored COS protocol.


Assuntos
Fertilização in vitro , Hispânico ou Latino/genética , Polimorfismo de Nucleotídeo Único , Receptores do FSH/genética , Adulto , Alelos , Estudos de Coortes , Feminino , Frequência do Gene , Genótipo , Humanos , Desequilíbrio de Ligação , México , Indução da Ovulação , Gravidez , Taxa de Gravidez , Adulto Jovem
4.
Diabetes ; 2024 Jun 13.
Artigo em Inglês | MEDLINE | ID: mdl-38869447

RESUMO

Macrophage (Mφ) plasticity is critical for normal wound repair; however, in type 2 diabetic wounds, Mφs persist in a low-grade inflammatory state that prevents the resolution of wound inflammation. Increased NLRP3 inflammasome activity has been shown in diabetic wound Mφs; however, the molecular mechanisms regulating NLRP3 expression and activity are unclear. Here, we identified that diabetic wound keratinocytes induce Nlrp3 gene expression in wound Mφs through IL-1 receptor-mediated signaling, resulting in enhanced inflammasome activation in the presence of PAMPs and DAMPs. We found that IL-1 alpha is increased in human and murine wound diabetic keratinocytes compared to non-diabetic controls and directly induces Mφ Nlrp3 expression through IL-1 receptor signaling. Mechanistically, we report that the histone demethylase, JMJD3, is increased in wound Mφs late post-injury and is induced by IL-1 alpha from diabetic wound keratinocytes, resulting in Nlrp3 transcriptional activation through an H3K27me3-mediated mechanism. Using genetically engineered mice deficient in JMJD3 in myeloid cells (Jmjd3fl/fllyz2cre+), we demonstrate that JMJD3 controls Mφ-mediated Nlrp3 expression during diabetic wound healing. Thus, our data suggest a role for keratinocyte-mediated IL-1 alpha/IL-1R signaling in driving enhanced NLRP3 inflammasome activity in wound Mφs. These data also highlight the importance of cell crosstalk in wound tissues and identify JMJD3 and the ILR signaling cascade as important upstream therapeutic targets for Mφ NLRP3 inflammasome hyperactivity in nonhealing diabetic wounds.

5.
J Paediatr Child Health ; 49(3): E213-6, 2013 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-23480052

RESUMO

AIM: The aim of this study is to determine the demographic, clinical and serological patterns of hepatitis B in children in Victoria over a 17-year period. METHODS: Retrospective analysis of medical records of all patients <18 years of age with positive hepatitis B surface antigen referred to the Gastroenterology, Immigrant Health and Infectious Diseases clinics between 1992 and 2009. RESULTS: Of the 164 children identified, 76% were born overseas, with vertical transmission the most likely source in 84%. Most were asymptomatic, with no signs of chronic liver disease. Forty children infected with hepatitis B virus (HBV) were born in Australia prior to universal vaccination. There was poor documentation of vaccination or response to vaccination in siblings at risk within families where at least one child was infected. An increasing number of referrals was noted from 2006 to 2009 compared with the preceding 4 years (P < 0.001). Of an expected 200 follow-up visits from new referrals, 78% were attended. CONCLUSION: These findings suggest that the number of children with HBV in our population is increasing and that models of health care designed to integrate primary with specialist care are required to minimise the overall health care burden of this chronic infection.


Assuntos
Vacinas contra Hepatite B/imunologia , Vírus da Hepatite B/isolamento & purificação , Hepatite B/epidemiologia , Adolescente , Austrália/epidemiologia , Criança , Pré-Escolar , Feminino , Hepatite B/prevenção & controle , Humanos , Masculino , Estudos Retrospectivos , Vitória/epidemiologia
6.
Bol Med Hosp Infant Mex ; 80(1): 63-68, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-36867566

RESUMO

BACKGROUND: Rhabdoid tumors are malignant neoplasms of low prevalence, aggressive behavior, and high mortality. They were initially described as renal tumors, although tumors with the same histopathological and immunohistochemical characteristics have been discovered in other locations, mainly in the central nervous system. Few cases of mediastinal location have been reported internationally. This work aimed to describe the case of a mediastinal rhabdoid tumor. CASE REPORT: We describe the case of an 8-month-old male patient admitted to the pediatric department with dysphonia and laryngeal stridor progressing to severe respiratory distress. Contrast-enhanced computed tomography of the thorax showed a large mass with homogeneous soft tissue density, and smooth and well-defined borders, with suspicion of malignant neoplasm. Due to the oncological emergency compressing the airway, empirical chemotherapy was initiated. Subsequently, the patient underwent incomplete tumor resection due to its invasive nature. The pathology report showed morphology compatible with a rhabdoid tumor, which immunohistochemical and genetic studies corroborated. Chemotherapy and radiotherapy to the mediastinum were administered. However, the patient died three months after the initial treatment due to the aggressive behavior of the tumor. CONCLUSIONS: Rhabdoid tumors are aggressive and malignant entities difficult to control and have poor survival. Early diagnosis and aggressive treatment are required, although the 5-year survival does not exceed 40%. It is necessary to analyze and report more similar cases to establish specific treatment guidelines.


INTRODUCCIÓN: Los tumores rabdoides son neoplasias malignas de baja prevalencia, con comportamiento agresivo y alta mortalidad. Inicialmente fueron descritos como renales, aunque posteriormente se han descrito tumores con las mismas características histopatológicas e inmunohistoquímicas en otros sitios, principalmente en el sistema nervioso central. Internacionalmente se han descrito pocos casos de localización mediastinal. El objetivo del presente trabajo fue describir el caso de un tumor rabdoide de localización mediastinal. CASO CLÍNICO: Se presenta el caso de un paciente de sexo masculino de 8 meses de edad que ingresó al servicio de pediatría con disfonía y estridor laríngeo que progresó a dificultad respiratoria severa. En la tomografía computarizada contrastada de tórax se observó una gran masa homogénea con densidad de tejidos blandos, de bordes lisos y bien definidos, por lo que se sospechó una neoplasia maligna. Debido a la urgencia oncológica compresiva de la vía aérea se inició con un esquema empírico de quimioterapia. Posteriormente se sometió a resección tumoral incompleta por carácter invasor. El reporte de patología mostró morfología compatible con un tumor rabdoide, el cual se corroboró con estudios de inmunohistoquímica y genética. Se administró un esquema de quimioterapia y radioterapia al mediastino. Sin embargo, el paciente falleció a los 3 meses del inicio de tratamiento debido al comportamiento agresivo del tumor. CONCLUSIONES: Los tumores rabdoides son entidades agresivas y malignas de difícil control y con pobre supervivencia. A pesar de que se requiere un diagnóstico precoz y un tratamiento agresivo, no se ha logrado la supervivencia a 5 años mayor al 40%. Es necesario analizar una mayor cantidad de casos para establecer guías específicas de tratamiento.


Assuntos
Mediastino , Tumor Rabdoide , Criança , Masculino , Humanos , Lactente , Hospitalização
7.
ACS ES T Water ; 2(11): 2034-2046, 2022 Nov 11.
Artigo em Inglês | MEDLINE | ID: mdl-37552746

RESUMO

Because of the increased population density, high-risk behavior of young students, and lower vaccination rates, university campuses are considered hot spots for COVID-19 transmission. This study monitored the SARS-CoV-2 RNA levels in the wastewater of a Canadian university campus for a year to provide actionable information to safely manage COVID-19 on campus. Wastewater samples were collected from the campus sewer and residence buildings to identify changes, peaks, and hotspots and search for associations with campus events, social gatherings, long weekends, and holidays. Furthermore, the impact of wastewater parameters (total solids, volatile solids, temperature, pH, turbidity, and UV absorbance) on SARS-CoV-2 detection was investigated, and the efficiency of ultrafiltration and centrifugation concentration methods were compared. RT-qPCR was used for detecting SARS-CoV-2 RNA. Wastewater signals largely correlated positively with the clinically confirmed COVID-19 cases on campus. Long weekends and holidays were often followed by increased viral signals, and the implementation of lockdowns quickly decreased the case numbers. In spite of online teaching and restricted access to campus, the university represented a microcosm of the city and mirrored the same trends. Results indicated that the centrifugation concentration method was more sensitive for wastewater with high solids content and that the ultrafiltration concentration method was more sensitive for wastewater with low solids content. Wastewater characteristics collected from the buildings and the campus sewer were different. Statistical analysis was performed to manifest the observations. Overall, wastewater surveillance provided actionable information and was also able to bring high-risk factors and events to the attention of decision-makers, enabling timely corrective measures.

8.
Front Psychol ; 13: 869715, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35693501

RESUMO

Although substantial evidence suggests receiving social support has positive implications for well-being, less is known about how providing support can confer benefits, particularly for Asian American and Latinx individuals who are more likely to come from interdependent cultures that emphasize family obligation. Asian American and Latinx college students (N = 48; M age = 21.44, SD = 2.61; 68.75% female) reported on anxiety before taking part in a modified laboratory task that elicited a physiological stress response as measured by total cortisol output. They were randomly assigned to write (a) a supportive note to a family member, (b) a supportive note to a close friend, or (c) about their day in a control condition after the mild lab stressor and reported on psychosocial well-being (i.e., post-task anxiety and self-esteem). Those who provided support to a family member experienced higher self-esteem compared to those in the control condition. However, there was variation in Asian American and Latinx participants' physiological stress response (i.e., total cortisol output). The findings suggest that providing support to close others, particularly family members, can be differentially meaningful for individuals from diverse backgrounds.

9.
J Biosci Bioeng ; 134(1): 21-28, 2022 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-35461767

RESUMO

Bacillus circulans E9 (now known as Niallia circulans) promotes plant growth-producing indole-3-acetic acid (IAA), showing potential for use as a biofertilizer. In this work, the use of a low-cost medium containing industrial substrates, soybean, pea flour, Solulys, Pharmamedia, yeast extract, and sodium chloride (NaCl), was evaluated as a substitute for microbiological Luria Broth (LB) medium for the growth of B. circulans E9 and the production of IAA. In Erlenmeyer flasks with pea fluor medium (PYM), the maximum production of IAA was 7.81 ± 0.16 µg mL-1, while in microbiological LB medium, it was 3.73 ± 0.15 µg mL-1. In addition, an oxygen transfer rate (OTR) of 1.04 kg O2 m-3 d-1 allowed the highest bacterial growth (19.3 ± 2.18 × 1010 CFU mL-1) and IAA production (10.7 µg mL-1). Consequently, the OTR value from the flask experiments was used to define the conditions for the operation of a 1 L stirred tank bioreactor. The growth and IAA production of B. circulans cultured in a bioreactor with PYM medium were higher (8 and 1.6 times, respectively) than those of bacteria cultured in Erlenmeyer flasks. IAA produced in a bioreactor by B. circulans was shown to induce the root system in Arabidopsis thaliana, similar to synthetic IAA. The results of this study demonstrate that PYM medium may be able to be used for the mass production of B. circulans E9 in bioreactors, increasing both bacterial growth and IAA production. This low-cost medium has the potential to be employed to grow other IAA-producing bacterial species.


Assuntos
Arabidopsis , Bacillus , Reatores Biológicos , Meios de Cultura , Ácidos Indolacéticos , Cloreto de Sódio
10.
PeerJ ; 10: e13675, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35782100

RESUMO

Stevia rebaudiana (Bertoni) Bertoni is a plant of economic interest in the food and pharmaceutical industries due its steviol glycosides (SG), which are rich in metabolites that are 300 times sweeter than sucrose. In addition, S. rebaudiana plants contain phenolic compounds and flavonoids with antioxidant activity. Endophytic bacteria promote the growth and development and modulate the metabolism of the host plant. However, little is known regarding the role of endophytic bacteria in the growth; synthesis of SG, flavonoids and phenolic compounds; and the relationship between trichome development and specialized metabolites in S. rebaudiana, which was the subject of this study. The 12 bacteria tested did not increase the growth of S. rebaudiana plants; however, the content of SG increased with inoculation with the bacteria Enterobacter hormaechei H2A3 and E. hormaechei H5A2. The SG content in leaves paralleled an increase in the density of glandular, short, and large trichome. The image analysis of S. rebaudiana leaves showed the presence of SG, phenolic compounds, and flavonoids principally in glandular and short trichomes. The increase in the transcript levels of the KO, KAH, UGT74G1, and UGT76G1 genes was related to the SG concentration in plants of S. rebaudiana inoculated with E. hormaechei H2A3 and E. hormaechei H5A2. In conclusion, inoculation with the stimulating endophytes E. hormaechei H2A3 and E. hormaechei H5A2 increased SG synthesis, flavonoid content and flavonoid accumulation in the trichomes of S. rebaudiana plants.


Assuntos
Stevia , Stevia/genética , Tricomas/genética , Expressão Gênica , Flavonoides/metabolismo
11.
Bol Med Hosp Infant Mex ; 78(4): 335-340, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34351888

RESUMO

INTRODUCCIÓN: La COVID-19 se ha convertido en una amenaza para la salud pública mundial. Sin embargo, las formas graves en niños son poco frecuentes. Se presenta el caso de un lactante con síndrome inflamatorio multisistémico relacionado con COVID-19. CASO CLÍNICO: Lactante de 8 meses que estuvo en contacto con adultos positivos para COVID-19. El lactante inició con una forma leve de la enfermedad que progresó con rapidez a una forma crítica de presentación inicialmente con estado epiléptico, y a su ingreso con evidencia de inflamación en laboratorios, afección sistémica grave con falla multiorgánica y prueba de reacción en cadena de la polimerasa para SARS-CoV-2 nasofaríngea positiva. El lactante falleció 7 días después de su ingreso. CONCLUSIONES: El espectro de presentación de la COVID-19 en niños menores de 1 año es variable y aún no se cuentan con criterios consensuados para el diagnóstico y el tratamiento. Todo lactante con enfermedad grave con compromiso multiorgánico al ingreso en tiempos de pandemia obliga a realizar una meticulosa historia clínica y considerar la infección por SARS-CoV-2 hasta su confirmación. BACKGROUND: COVID-19 has become a threat to global public health. However, severe forms of COVID-19 presentation in children are rare. We present the case of an infant with COVID 19-related multisystem inflammatory syndrome. CASE REPORT: We describe the case of an 8-month-old infant who had contact with COVID-19 positive adults. The infant began with mild symptoms of the disease but rapidly progressed to a critical form of presentation:initially with epileptic status, and upon admission with laboratory evidence of inflammation, severe systemic condition with multiple organ failure, and a positive nasopharyngeal SARS-CoV-2 PCR test. The infant died 7 days after admission. CONCLUSIONS: The spectrum of COVID-19 presentation in children under one year of age is variable, and there are still no established criteria for diagnosis and treatment. All infants presenting a severe disease with multiple organ involvement at admission in times of pandemic require a thorough medical history to consider SARS-CoV-2 infection until proven otherwise.


Assuntos
COVID-19 , Síndrome de Resposta Inflamatória Sistêmica , COVID-19/diagnóstico , COVID-19/terapia , Estado Terminal , Evolução Fatal , Humanos , Lactente , Masculino , Síndrome de Resposta Inflamatória Sistêmica/diagnóstico , Síndrome de Resposta Inflamatória Sistêmica/terapia
12.
PLoS One ; 16(3): e0248141, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-33667278

RESUMO

Several marine species have developed a magnetic perception that is essential for navigation and detection of prey and predators. One of these species is the transparent glass catfish that contains an ampullary organ dedicated to sense magnetic fields. Here we examine the behavior of the glass catfish in response to static magnetic fields which will provide valuable insight on function of this magnetic response. By utilizing state of the art animal tracking software and artificial intelligence approaches, we quantified the effects of magnetic fields on the swimming direction of glass catfish. The results demonstrate that glass catfish placed in a radial arm maze, consistently swim away from magnetic fields over 20 µT and show adaptability to changing magnetic field direction and location.


Assuntos
Peixes-Gato/fisiologia , Campos Magnéticos , Comportamento Predatório/fisiologia , Natação/fisiologia , Animais
13.
Chemosphere ; 279: 130512, 2021 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-33878690

RESUMO

This study has demonstrated, for the first time, a simple, fast and flexible microwave processing method for the simultaneous preparation of bio-products (bio-oil, bio-gas and biochar) using a methodology that avoids any form of catalyst or chemical activation. The dielectric properties of biomass and physicochemical characterisation such as TGA, elemental and proximate analysis, XRD, SEM/EDX and textural properties, showed that 8 kJ g-1 of microwave energy can produce superior biochars for applications in CO2 capture. The maximum CO2 uptake capacity for biochar produced was 2.5 mmol g-1 and 2.0 mmol g-1 at 0 and 25 °C and 1 bar, which and also exhibited high gas selectivity compared with N2, fast kinetics of adsorption (<10 min) and desirable reusability (>95%) after 20 cycles. GC-MS analysis of generated bio-oil products revealed that higher microwave energies (>8 kJ g-1) significantly enhanced the amount of bio-oil produced (39%) and specifically the formation of levoglucosan, furfural and phenolics compounds, and bio-gas analysis identified trace levels of H2 and CH4. The results from this study confirm a green, inexpensive and efficient approach for biomass valorisation which can easily be embedded within bio-refinery process, and also demonstrates the potential of biochars for post-combustion CO2 uptake.


Assuntos
Biocombustíveis , Dióxido de Carbono , Biomassa , Catálise , Carvão Vegetal , Temperatura Alta , Micro-Ondas
14.
PeerJ ; 8: e10173, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-33133783

RESUMO

In plants, phosphorus (P) uptake occurs via arbuscular mycorrhizal (AM) symbiosis and through plant roots. The phosphate concentration is known to affect colonization by AM fungi, and the effect depends on the plant species. Stevia rebaudiana plants are valuable sources of sweetener compounds called steviol glycosides (SGs), and the principal components of SGs are stevioside and rebaudioside A. However, a detailed analysis describing the effect of the phosphate concentration on the colonization of AM fungi in the roots and the relationship of these factors to the accumulation of SGs and photochemical performance has not been performed; such an analysis was the aim of this study. The results indicated that low phosphate concentrations (20 and 200 µM KH2PO4) induced a high percentage of colonization by Rhizophagus irregularis in the roots of S. rebaudiana, while high phosphate concentrations (500 and 1,000 µM KH2PO4) reduced colonization. The morphology of the colonization structure is a typical Arum-type mycorrhiza, and a mycorrhiza-specific phosphate transporter was identified. Colonization with low phosphate concentrations improved plant growth, chlorophyll and carotenoid concentration, and photochemical performance. The transcription of the genes that encode kaurene oxidase and glucosyltransferase (UGT74G1) was upregulated in colonized plants at 200 µM KH2PO4, which was consistent with the observed patterns of stevioside accumulation. In contrast, at 200 µM KH2PO4, the transcription of UGT76G1 and the accumulation of rebaudioside A were higher in noncolonized plants than in colonized plants. These results indicate that a low phosphate concentration improves mycorrhizal colonization and modulates the stevioside and rebaudioside A concentration by regulating the transcription of the genes that encode kaurene oxidase and glucosyltransferases, which are involved in stevioside and rebaudioside A synthesis in S. rebaudiana.

15.
Gastroenterol Hepatol ; 32(4): 274-8, 2009 Apr.
Artigo em Espanhol | MEDLINE | ID: mdl-19371968

RESUMO

BACKGROUND: Costa Rica is known to have a relatively high prevalence of Wilson's disease (WD). The present study describes the clinical presentation and demographic characteristics of patients diagnosed with WD at the Country's National Pediatric Hospital. METHODS: We performed a retrospective chart review of all patients diagnosed with WD from January 1992 to March 2006. RESULTS: Thirty-five patients were diagnosed with WD and 69% were male (n=24). Age at presentation was 10+/-2 years (range, 5-15). Clinical presentation included hepatic features in 69% (n=24), hematological features in 11% (n=4) and neurological features in 3% (n=1). Six patients (17%) were asymptomatic siblings. Six children (17%) died from fulminant hepatic failure. Liver biopsies were performed in 21 patients (60%), showing cirrhosis in five. Five patients underwent liver transplantation due to acute liver failure. CONCLUSIONS: WD should be suspected in children with chronically abnormal liver function tests. The clinical presentation of autochthonous patients was similar to that in children diagnosed in other countries.


Assuntos
Degeneração Hepatolenticular , Adolescente , Criança , Pré-Escolar , Costa Rica , Feminino , Degeneração Hepatolenticular/diagnóstico , Humanos , Masculino , Estudos Retrospectivos
16.
Australas J Dermatol ; 49(3): 167-8, 2008 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-18638227

RESUMO

A 38-year-old man presented with axillary freckling, multiple café au lait macules and neurofibromas on the scalp, trunk and extremities. In addition, he had a patch of white hair on the right parieto-occipital area overlying a scalp neurofibroma. He was diagnosed with poliosis circumscripta associated with neurofibromatosis 1.


Assuntos
Doenças do Cabelo/complicações , Hipopigmentação/complicações , Neurofibromatose 1/complicações , Adulto , Humanos , Masculino
17.
Rev. méd. (La Paz) ; 29(2): 11-20, 2023. Tab.
Artigo em Espanhol | LILACS | ID: biblio-1530239

RESUMO

OBJETIVO: Conocer la prevalencia al nacimiento de los defectos del tubo neural en recién nacidos del Hospital de la Mujer, La Paz, Bolivia, período comprendido entre el año 2008 - 2017. DISEÑO METODOLÓGICO: Observacional, descriptivo, de corte transversal, retrospectivo. LUGAR: Hospital de la Mujer, a 3650 m.s.n.m. La Paz, Bolivia. MÉTODOS: Se examinaron los expedientes clínicos de todos los recién nacidos del Hospital de la Mujer, en período ya establecido. Para la detección de anomalías congénitas, se utilizaron libros de registro de nacimientos. Se ingresaron los datos a una base Excel, se procedió al análisis de los mismos a través del uso de la estadística descriptiva. RESULTADOS: Se recurrió a registros de 58120 expedientes de recién nacidos, se presentaron 1269 casos con Anomalías Congénitas (2.2%) con una prevalencia al Nacimiento (PN) de 21.83/10.000 RN (22.57/10.000 RN vivos). De dichos 1269 casos, 69 (5.44%) correspondieron a Defectos del Tubo Neural (DTN), con una PN de 11.87/10.000 RN (12.27/10.000 RN vivos), 59.42% DTN asociados al sexo masculino. El tipo de DTN más frecuente evidenciado fue Mielomeningocele (52.17%), y los DTN mortinatos representan el 17.39%. CONCLUSIONS: La llamativa diferencia encontrada, (en relación a la predilección por el sexo masculino), podría sugerir la presencia de una carga genética cuantitativamente mayor (propia de la población estudiada) en la etiología de los DTN en nuestro medio, ya que cuando las condiciones multifactoriales como los DTN afectan al sexo menos frecuentemente descrito, se puede asumir un peso mayor de los factores genéticos en relación a factores ambientales, siguiendo conceptos de heredabilidad y la teoría del umbral para este modo de herencia, sin embargo, somos conscientes que se requiere un tamaño de muestra mayor para arribar a conclusiones más certeras, dichos factores se adicionan al subregistro y posibles sesgos de registro evidenciados durante la realización del estudio.


OBJECTIVE: To know the prevalence at birth of neural tube defects in newborns at Hospital de La Mujer, La Paz, Bolivia, 3650 m.a.s.l, period between 2008 - 2017. PLACE: Women's Hospital, La Paz, Bolivia. METHODS: Observational, descriptive, cross-sectional, retrospective. The clinical records of all newborns were examined, in an already established period. For the detection of congenital anomalies, birth registration books were used. The data were entered into an Excel database, and analyzed through the use of descriptive statistics. RESULTS: 58120 newborn records were examined, 1269 cases with Congenital Anomalies (2.2%) with a prevalence at Birth (PB) of 21.83/10.000 RN (22.57/10.000 RN alive) were presented. Of these 1269 cases, 69 (5,44%) corresponded to Neural Tube Defects (NTD), with a PB of 11.87/10,000 RN (12.27/10,000 RN alive), 59.42% DTN associated with the male sex. The most frequent type of NTD evidenced was Myelomeningocele (52.17%), and stillborn DTNs represented 17.39%. CONCLUSIONS: The distinctive difference found (predilection of NTD for the male sex), could suggest the presence of a quantitatively greater genetic load (typical of the population studied) in the etiology of NTDs in our environment, since when multifactorial conditions affect the less frequently described sex, a greater weight of genetic factors can be assumed compared to environmental factors, following concepts of heritability and the threshold theory for this mode of inheritance; however, we are aware that a larger sample size is needed to arrive at more accurate conclusions, these factors are added to the underreporting and possible recording biases evidenced during the study.

18.
Open Forum Infect Dis ; 5(11): ofy281, 2018 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-30488042

RESUMO

Leishmania panamensis is the most common species of Leishmania in Panama, and it is known to cause cutaneous leishmaniasis, disseminated cutaneous leishmaniasis, and mucocutaneous leishmaniasis; however, it not associated with diffuse cutaneous disease. In this study, we report the first case of diffuse cutaneous leishmaniasis caused by L panamensis.

19.
Plant Sci ; 272: 1-13, 2018 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-29807580

RESUMO

This work shows that autophagy plays a key role in the hydrotropic curvature of Arabidopsis thaliana roots. An analysis of GFP-ATG8a transgenic plants showed that autophagosomes accumulated in the root curvature 2 h after the transfer of seedlings to Normal Medium-Water Stress Medium (NM-WSM). Autophagy flux was required for root bending. Remarkably, several atg mutants did not show hydrotropic curvature in NM-WSM or the splitting-agar system. Hyper, an H2O2 sensor showed that H2O2 preferentially accumulated in the root curvature at a similar rate as the autophagosomes did during hydrotropic response. Peroxidase and ROBH activity inhibition affected, negatively or positively root curvature. This data suggested H2O2 balance was required for root bending. Malondialdehyde, a metabolite used as an indicator of oxidative stress, accumulated at the same rate during the development of the curvature in NM-WSM. These results suggest that autophagy is required for the hydrotropic response in NM-WSM. We discuss the possible regulatory role of H2O2 on autophagy during the hydrotropic response that might relieve oxidative stress provoked by water stress. NM-WSM is water stress system suitable for studying hydrotropic responses on a short-term basis.


Assuntos
Arabidopsis/crescimento & desenvolvimento , Autofagia/fisiologia , Raízes de Plantas/crescimento & desenvolvimento , Tropismo/fisiologia , Desidratação/fisiopatologia , Microscopia Confocal , Plântula/crescimento & desenvolvimento , Água/fisiologia
20.
Adv Protein Chem Struct Biol ; 113: 85-117, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-30149907

RESUMO

The steps followed in the knowledge discovery in databases (KDD) process are well documented and are widely used in different areas where exploration of data is used for decision making. In turn, while different workflows for developing quantitative structure-activity relationship (QSAR) models have been proposed, including combinatorial use of QSAR, there is now agreement on common requirements for building trustable predictive models. In this work, we analyze and confront the steps involved in KDD and QSAR and present how they comply with the OECD principles for the validation, for regulatory purposes, of QSAR models.


Assuntos
Bases de Dados Factuais , Descoberta de Drogas , Organização para a Cooperação e Desenvolvimento Econômico , Relação Quantitativa Estrutura-Atividade , Humanos
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