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1.
PLoS One ; 18(4): e0283987, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37071612

RESUMO

This article focuses on the rationale, design and methods of an effectiveness-implementation hybrid type I randomized trial of eHealth Familias Unidas Mental Health, a family-based, online delivered intervention for Hispanic families to prevent/reduce depressive and anxious symptoms, suicide ideation/behaviors, and drug use in Hispanic youth. Utilizing a rollout design with 18 pediatric primary care clinics and 468 families, this study addresses intervention effectiveness, implementation research questions, and intervention sustainment, to begin bridging the gap between research and practice in eliminating mental health and drug use disparities among Hispanic youth. Further, we will examine whether intervention effects are partially mediated by improved family communication and reduced externalizing behaviors, including drug use, and moderated by parental depression. Finally, we will explore whether the intervention's impact on mental health and drug use, as well as sustainment of the intervention in clinics, varies by quality of implementation at clinic and clinician levels. Trail registration: ClinicalTrials.gov Identifier: NCT05426057, First posted June 21, 2022.


Assuntos
Hispânico ou Latino , Serviços de Saúde Mental , Telemedicina , Adolescente , Criança , Humanos , Hispânico ou Latino/psicologia , Saúde Mental , Relações Pais-Filho , Atenção Primária à Saúde , Transtornos Relacionados ao Uso de Substâncias/prevenção & controle , Ensaios Clínicos Controlados Aleatórios como Assunto , Ideação Suicida , Depressão/prevenção & controle , Ansiedade/prevenção & controle
2.
Artigo em Inglês | MEDLINE | ID: mdl-36612796

RESUMO

The global nutrition transition has increased the prevalence of childhood dental caries. Greater understanding is needed of the impact of social determinants­including maternal education­on child oral health. This is a cross-sectional analysis of a convenience sample of families of 458 indigenous Ecuadorian children aged 6 months through 6 years from 2011−2013. Data was collected by mother interviews and child dental and anthropometric examinations. Multivariate logistic and Zero-Inflated-Poisson regression analyses assessed associations between years of maternal education and maternal-child oral health practices and child oral health outcomes. Each additional year of maternal education was significantly (p < 0.05) associated with some healthier practices including greater likelihood of mothers and children drinking milk daily (OR 1.20; 95% CI 1.08, 1.34); and less healthy practices including greater likelihood of bottle-feeding children with sugary liquids (OR 1.14; 95% CI 1.06, 1.22) and to older age, giving children sweets daily, calming children with a bottle or sweets, and less likelihood of helping brush their children's teeth (OR 0.93; 95% CI 0.88, 0.98). Each year of maternal education had a small but statistically non-significant influence on increasing the odds of children being among those who are cavity-free (OR 1.03; 95% CI 0.92, 1.16). Interventions to improve health outcomes should focus not just on maternal education but also address social and commercial determinants of health through nutrition and oral health education, as well as policies to reduce sugar and ensure universal access to oral health care.


Assuntos
Cárie Dentária , Saúde Bucal , Feminino , Humanos , Equador/epidemiologia , Estudos Transversais , Cárie Dentária/epidemiologia , Povos Indígenas
3.
San Salvador; s.n; 2020. 37 p. tab.
Tese em Espanhol | LILACS, BISSAL | ID: biblio-1151028

RESUMO

Las enfermedades valvulares cardíacas constituyen condiciones de gran impacto en la calidad de vida de las personas que las padecen y que influyen también de una u otra forma en el desarrollo de un país, pues muchas se manifiestan en edades en que la persona es económicamente activa y el inicio y exacerbaciones de los síntomas traducen incapacidades laborales frecuentes, hospitalizaciones y más aún si se le brinda intervención quirúrgica. Debido a que por falta de conocimiento o el desarrollo paulatino de las manifestaciones clínicas de las mismas, son detectadas en etapas avanzadas, cuando las opciones de tratamiento son escasas, paliativas o las opciones quirúrgicas son de riesgo más que beneficio y considerando que la cardiopatía reumática es una causa importante y prevenible de morbilidad y mortalidad en todas las regiones, sobre todo en países en vías de desarrollo presentando una alta frecuencia en nuestra región y la causa de más de 300 000 muertes cada año, especialmente entre grupos vulnerables y marginados por lo que es comprensible también la importancia en la prevención, detección y tratamiento oportuno y adecuado de ciertas enfermedades respiratorias agudas, como la faringoamigdalitis bacteriana. Estas afecciones, detectadas principalmente por síntomas como disnea y lipotimias, confirmadas por estudio de ecocardiografía, y que constituyen las indicaciones más frecuentes de una intervención quirúrgica, las cual se ha desarrollado de mejor manera en los últimos años, realizadas en nuestro país en el centro de tercer nivel del sistema de salud, el Hospital Nacional Rosales


Assuntos
Valvas Cardíacas , Medicina Interna
4.
Artigo em Espanhol | LILACS-Express | LILACS | ID: biblio-1508367

RESUMO

Introducción: La COVID-19 es una enfermedad infecciosa de alta transmisibilidad. Objetivo: Caracterizar la casuística pediátrica que posibilite disponer de conocimientos para el enfrentamiento a la pandemia en Cuba. Métodos: Estudio descriptivo, observacional y transversal en pacientes con COVID-19, ingresados en el Hospital Pediátrico San Miguel del Padrón: abril-junio de 2020. Se analizó: edad, sexo, estado nutricional, enfermedad previa, área de residencia, sintomatología al ingreso, resultados de complementarios, y condición al egreso. Resultados: Se identificaron 36 niños con COVID-19. La proporción según sexo no mostró diferencias. Hubo predominio del grupo de edad entre 10-14 años, piel mestiza y presentación asintomática en 72,2 %. Las comorbilidades más observadas fueron el asma bronquial leve y la anemia ligera. Prevalecieron los residentes del Este de la capital, sobre todo, en la semana estadística 21 y 25. En el grupo de enfermos sintomáticos predominaron las manifestaciones respiratorias y la fiebre. Los complementarios revelaron linfocitosis (63,9 %), anemia (13,9 %) e infiltrados pulmonares (8,3 %). El 100 % de los pacientes tuvo evolución favorable y PCR negativo tras concluir tratamiento. Conclusiones: La COVID-19 tuvo mayor incidencia en niños de 10 años o más. No hubo variaciones en cuanto al sexo. Predominó el color de piel mestizo. Los pacientes tuvieron espectro clínico variable, y evolución de PCR condicionada por la presencia de factores de riesgo individual y social. La recuperación clínica y la regresión de alteraciones hematológicas y radiológicas se logró en todos los pacientes entre 2-3 semanas.


Introduction: COVID-19 is an infectious disease with high transmissibility. Objective: To characterize the pediatrics casuistry that allows having the relevant knowledge to fight COVID-19 pandemic in Cuba. Methods: Descriptive, observational and cross-sectional study in patients with COVID-19 admitted in San Miguel del Padrón municipality's Pediatric Hospital from April to June, 2020. There were analyzed as variables: age, sex, nutritional state, previous diseases, living area, sintomatology in the moment of admission, results of complementary tests, and state in the moment of discharge. Results: 36 children were identified with COVID-19. Proportion according to sex had no differences. There was a predominance of the group age among 10 to 14 years, mixed race patients and the asymptomatic forms in 72,2% of them. The most frequent comorbidities were slight bronchial asthma and slight anemia. There was predominance of patients living in the Eastern area of the capital, mainly in the statistic weeks #21 and #25. In the group of symptomatic patients prevailed the respiratory manifestations and the fever. The complementary tests showed lymphocytes (63,9%), anemia (13,9) and pulmonary infiltrates (8,3%). 100% of the patients had favorable evolution and negative PCR after finishing the treatment. Conclusions: COVID-19 had a higher incidence in 10 or more year's children. There were not variations regarding sex. Mixed race patients predominated. Patients had a variable clinical spectrum, and an evolution of the PCR conditioned by the presence of individual and social risk factors. Clinical recovery and regression of hematologic and radiologic alterations was achieved in all the patients among 2 to 3 weeks.

5.
Rev. Hosp. El Cruce ; (25): 44-48, Dic 2019.
Artigo em Espanhol | LILACS, BINACIS | ID: biblio-1047126

RESUMO

El score de riesgo KAsH fue diseñado como alternativa para predecir mortalidad intrahospitalaria en pacientes con IAMCEST en una población europea, y cuenta con variables sencillas que se pueden obtener en la cabecera de los pacientes. OBJETIVO:Validar el score KAsH en nuestro medio y compararlo con otros scores. METODOLOGÍA: La validación se realizó en una base de datos hospitalaria del conurbano bonaerense que cuenta con un registro consecutivo y en forma prospectiva de pacientes con IAMCEST desde mayo de 2009 a julio de 2018 (n=977). Se descartaron los casos con información incompleta. Para cada paciente se calculó un puntaje según la fórmula KAsH y se agruparon en 4 categorías. La discriminación del modelo se evaluó con curva ROC y se calculó el área bajo la curva (AUC) con su respectivo intervalo de confianza. El score KAsH se comparó con los modelos GRACE, TIMI y ProACS mediante el test de DeLong. RESULTADOS: Se incluyeron 884 casos con información completa. La mortalidad intrahospitalaria fue 5.2% y por subgrupos fue la siguiente: 1=0.91%, 2=5.1%, 3=18.8%, 4=53.3%. El AUC fue de 0.86 (IC 95% 0,80-0.93). El análisis de comparaciones múltiples de AUC evaluado con el test de DeLong no evidenció diferencias estadísticamente significativas (p=0.18). CONCLUSIONES: El score KAsH presentó buena discriminación y calibración para pronóstico de mortalidad intrahospitalaria en nuestro medio. Dado que requiere pocas variables de sencilla adquisición, la aplicación del score KAsH puede constituir una alternativa atractiva a los scores tradicionales.


The KAsH risk score was designed as an alternative to predict in-hospital mortality in patients with IAMCEST in a European population, and has variables that can be obtained at the bedside. OBJECTIVE: To validate the KAsH score in our environment and compare it with other scores. METHODS: The validation was carried out in a hospital database of the Buenos Aires suburbs that has a consecutive and prospective registry of patients with IAMCEST from May 2009 to July 2018 (n = 977). Cases with incomplete information were ruled out. For each patient, a score was calculated according to the KAsH formula and grouped into 4 categories. The discrimination of the model was evaluated with the ROC curve and the area under the curve (AUC) was calculated with its respective confidence interval. The KAsH score was compared with the GRACE, TIMI and ProACS models using the DeLong test. RESULTS: 884 cases with complete information were included. In-hospital mortality was 5.2% and by subgroups it was as follows: 1 = 0.91%, 2 = 5.1%, 3 = 18.8%, 4 = 53.3%. The AUC was 0.86 (95% CI 0.80-0.93). The analysis of multiple comparisons of AUC evaluated with the DeLong test showed no statistically significant differences (p = 0.18). CONCLUSIONS: The KAsH score presented good discrimination and calibration for in-hospital mortality prognosis in our environment. Since it requires few variables of simple acquisition, the application of the KAsH score can be an attractive alternative to traditional scores.


Assuntos
Prognóstico , Mortalidade , Estudo de Validação , Infarto do Miocárdio
6.
Multimed (Granma) ; 23(2): 339-346, mar.-abr. 2019.
Artigo em Espanhol | LILACS-Express | LILACS | ID: biblio-1091278

RESUMO

RESUMEN Se presentó un paciente negro, masculino, de 15 años de edad, con obesidad desde los 5 años, acantosis nigricans severa en cuello axilas, manos, muslos, estrías anacaradas en brazos y abdomen. Ligera ptosis palpebral bilateral, dificultad visual ligera. Poliuria y polidipsia. Desproporción de la brazada en relación con la talla. Hipogenitalismo, para el diagnóstico de esta afección se aplicó el método clínico, las técnicas de imágenes evidenciaron una gran masa selar que comprometía el hipotálamo y la hipófisis. Se realizaron los estudios hormonales demostrándose un hipopituitarismo total, el diagnóstico definitivo se realizó mediante la biopsia estereotaxica donde se diagnostica hipofisitis linfocitaria.


ABSTRACT A black male patient, 15 years of age, with obesity from the age of 5 year, severe acanthosis nigricans in neck, armpits, hands, thigs, stretch marks in arms and abdomen. Slight bilateral palpebral ptosis, slight visual difficulty. Polyuria and polydipsia. Disproportion of the stroke in relation to the size. Hypogenitalism, for the diagnosis of this condition. The clinical method was applied, the imaging techniques showed a large sellar mass that compromised the hypothalamus and pituitary gland. The hormonal studies were performed demostrating a total hypopituitarism, the definitive diagnosis was carried out by stereotactic biopsy where lymphocyte hypophysitis was diagnosed.

7.
MULTIMED ; 23(2)2019.
Artigo em Espanhol | CUMED | ID: cum-75482

RESUMO

Se presentó un paciente negro, masculino, de 15 años de edad, con obesidad desde los 5 años, acantosis nigricans severa en cuello, axilas, manos, muslos, estrías anacaradas en brazos y abdomen. Ligera ptosis palpebral bilateral, dificultad visual ligera. Poliuria y polidipsia. Desproporción de la brazada en relación con la talla. Hipogenitalismo, para el diagnóstico de esta afección se aplicó el método clínico, las técnicas de imágenes evidenciaron una gran masa selar que comprometía el hipotálamo y la hipófisis. Se realizaron los estudios hormonales demostrándose un hipopituitarismo total, el diagnóstico definitivo se realizó mediante la biopsia estereotaxica donde se diagnóstica hipofisitis linfocitaria(AU)


A black male patient, 15 years of age, with obesity from the age of 5 year, severe acanthosis nigricans in neck,armpits, hands, thigs, stretch marks inarms and abdomen. Slight bilateral palpebral ptosis, slight visual difficulty. Polyuria and polydipsia. Disproportion of the stroke in relation to the size. Hypogenitalism, for the diagnosis of this condition. The clinical method was applied, the imaging techniques showed a large sellar mass that compromisedthe hypothalamus and pituitary gland. The hormonal studies were performed demostrating a total hypopituitarism, the definitive diagnosis was carried out by stereotactic biopsy where lymphocyte hypophysitis was diagnosed(EU)


Assuntos
Humanos , Masculino , Adolescente , Hipofisite Autoimune/patologia , Hipofisite Autoimune/diagnóstico por imagem , Biópsia Guiada por Imagem
8.
Neurosci Lett ; 685: 124-130, 2018 10 15.
Artigo em Inglês | MEDLINE | ID: mdl-30130553

RESUMO

Hypothalamic paraventricular nucleus (PVN) projections to the spinal dorsal horn (SDH) are related to antinociception. Several neuropeptides from this nucleus could be released to the spinal cord after nociceptive stimuli. Indeed, it has been shown that enkephalins, oxytocin and vasopressin could be released at this level. Although the antinociceptive effects of these neuropeptides are well studied, little is known about the potential interaction between these molecules. In this study, we provide anatomical evidence of the interaction between oxytocin (OT), vasopressin (AVP), dynorphin (DYN) and enkephalin (ENK) along the PVN projections to the spinal dorsal horn at L3 level. A retrograde tracer (True Blue®) microinjected at L3 in the SDH and immunofluorescence with antibodies against OT, AVP, DYN and ENK were used. The experiments showed different levels of peptide immunoreactivity distribution along the rostro-caudal area of the PVN. A high percentage of co-localizations between two of the peptides (OT-AVP, OT-DYN, AVP-ENK, DYN-ENK) were present along the PVN. The following co-localizations occupied 4.76-9.62% of the total PVN area. PVN projections to the SDH at L3 level showed similar results. Our results show that different antinociceptive peptides may be interacting with each other to evoke PVN antinociceptive effects as part of the endogenous system of nociceptive modulation.


Assuntos
Encefalinas/farmacologia , Ocitocina/farmacologia , Núcleo Hipotalâmico Paraventricular/efeitos dos fármacos , Medula Espinal/efeitos dos fármacos , Vasopressinas/farmacologia , Animais , Dinorfinas/farmacologia , Encefalinas/metabolismo , Masculino , Neurônios/efeitos dos fármacos , Neurônios/metabolismo , Nociceptividade/efeitos dos fármacos , Núcleo Hipotalâmico Paraventricular/metabolismo , Ratos Wistar , Medula Espinal/metabolismo , Corno Dorsal da Medula Espinal/efeitos dos fármacos , Corno Dorsal da Medula Espinal/metabolismo
10.
Molecules ; 23(2)2018 Feb 13.
Artigo em Inglês | MEDLINE | ID: mdl-29438313

RESUMO

The use of thermo-reversible Lewis Pair (LP) interactions in the formation of transient polymer networks is still greatly underexplored. In this work, we describe the synthesis and characterization of polydimethylsiloxane/polystyrene (PDMS/PS) blends that form dynamic Lewis acid-Lewis base adducts resulting in reversible crosslinks. Linear PS containing 10 mol % of di-2-thienylboryl pendant groups randomly distributed was obtained in a two-step one-pot functionalization reaction from silyl-functionalized PS, while ditelechelic PDMS with pyridyl groups at the chain-termini was directly obtained via thiol-ene "click" chemistry from commercially available vinyl-terminated PDMS. The resulting soft gels, formed after mixing solutions containing the PDMS and PS polymers, behave at room temperature as elastomeric solid-like materials with very high viscosity (47,300 Pa·s). We applied rheological measurements to study the thermal and time dependence of the viscoelastic moduli, and also assessed the reprocessability and self-healing behavior of the dry gel.


Assuntos
Compostos de Boro/química , Ácidos de Lewis/química , Bases de Lewis/química , Poliestirenos/química , Siloxanas/química , Química Click , Elasticidade , Géis , Reologia , Temperatura , Viscosidade
11.
MULTIMED ; 22(1)2018.
Artigo em Espanhol | CUMED | ID: cum-74575

RESUMO

Introducción: el síndrome de Klinefelter es una forma de hipogonadismo masculino, caracterizado por la presencia de un cromosoma X extra, testículos pequeños, disgenesia de los túbulos seminíferos, niveles elevados degonadotropina, bajo nivel sérico de testosterona, caracteres sexuales secundarios subdesarrollados e infertilidad masculina. Caso clínico: se presentó un paciente blanco, masculino, de 17 años de edad sin dismorfia facial, aspecto eunocoide, hipogenitalismo ligero, anomalías esqueléticas y retraso mental leve. Para el diagnóstico de esta afección se aplicó el método clínico a través de la técnica comparativa o de patrón. Se realizó estudio cromosómico en sangre periférica, que confirmó el diagnóstico del síndrome en el cariotipo 47, XXY. Conclusiones: resulta de gran importancia tener en cuenta las manifestaciones clínicas antes mencionadas para establecer el diagnóstico precoz de este síndrome, ofrecer asesoramiento genético oportuno a los padres, así como rehabilitar física, psíquica y socialmente a estos pacientes(AU)


Introduction: Klinefelter syndrome is a form of male hypogonadism, characterized by the presence of an extra X chromosome, small testes, dysgenesis of seminiferous tubules, high levels of gonadotropin, low serum testosterone level, underdeveloped secondary sexual characters and male infertility. Clinical case: a white male patient, 17 years of age without facial dysmorphism, eunocoid appearance, slight hypogenitalism, skeletal anomalies and mild mental retardation. For the diagnosis of this condition, the clinical method was applied through the comparative or pattern technique. Chromosomal study was performed in peripheral blood, confirming the diagnosis of syndrome at karyotype 47, XXY. Conclusions: it is of great importance to take into account the aforementioned clinical manifestations in order to establish early diagnosis of this syndrome, offer timely genetic counseling to parents, and rehabilitate these patients physically, psychically and socially(EU)


Assuntos
Humanos , Masculino , Adolescente , Síndrome de Klinefelter/diagnóstico , Infertilidade Masculina , Hipogonadismo , Cariótipo Anormal , Cromossomo X , Gonadotropinas , Testículo
12.
Rev. inf. cient ; 97(4): i:835-f:841, 2018. ilus
Artigo em Espanhol | LILACS, CUMED | ID: biblio-1005654

RESUMO

Se presentó el caso de un neonato en el Hospital Regional Suddie, de Guyana, con tumoración de cuello, diagnosticado como higroma quístico, malformación no frecuente y cuyo diagnóstico se realiza al principio del embarazo por ecografía prenatal con evaluación de la región de la nuca del feto. La ampliación excesiva o aumento de la translucencia nucal puede estar relacionado con un higroma quístico. Las malformaciones congénitas son defectos estructurales presentes al nacimiento ocasionadas por un trastorno prenatal durante la morfogénesis. La ecografía prenatal realizada en el primer y segundo trimestre del embarazo por personal capacitado es un medio diagnóstico económico y no invasivo que permite el diagnóstico precoz y tomar conducta temprano en países de pocos recursos(AU)


The case of a neonate in Regional Hospital Suddie of Guyana with neck tumor, was presented and diagnosed as cystic lymphangioma, rare malformation and whose diagnosis is made early in pregnancy by prenatal ultrasound evaluation of the region of the neck of the fetus. Excessive expansion or increased translucency in the hindhead may be related to a cystic lymphangioma. Congenital malformations are structural defects present at birth caused by a prenatal disorder during morphogenesis. Prenatal ultrasound performed in the first and second trimester of pregnancy by trained personnel is an average economic diagnosis and non-invasive allowing early diagnosis and taking behavior early in resource-poor countries(AU)


O caso de um neonato em Hospital Regional Suddie na Guiana foi apresentado com um tumor no pescoço, diagnosticado como higroma cístico, malformação freqüente e cujo diagnóstico é feito no início da gestação por ultrassonografia pré-natal com avaliação da região da nuca do feto. O aumento excessivo ou aumento da translucência nucal pode estar relacionado a um higroma cístico. Malformações congênitas são defeitos estruturais presentes no nascimento causados por um distúrbio pré-natal durante a morfogênese. A ultrassonografia pré-natal realizada no primeiro e segundo trimestres da gravidez por pessoal treinado é um meio de diagnóstico barato e não invasivo que permite o diagnóstico precoce e a conduta precoce em países com poucos recursos(AU)


Assuntos
Recém-Nascido , Recém-Nascido , Linfangioma Cístico/diagnóstico , Guiana
13.
Rev Inf Cient ; 97(4)2018. ilus
Artigo em Espanhol | CUMED | ID: cum-74006

RESUMO

Se presentó el caso de un neonato en el Hospital Regional Suddie, de Guyana, con tumoración de cuello, diagnosticado como higroma quístico, malformación no frecuente y cuyo diagnóstico se realiza al principio del embarazo por ecografía prenatal con evaluación de la región de la nuca del feto. La ampliación excesiva o aumento de la translucencia nucal puede estar relacionado con un higroma quístico. Las malformaciones congénitas son defectos estructurales presentes al nacimiento ocasionadas por un trastorno prenatal durante la morfogénesis. La ecografía prenatal realizada en el primer y segundo trimestre del embarazo por personal capacitado es un medio diagnóstico económico y no invasivo que permite el diagnóstico precoz y tomar conducta temprano en países de pocos recursos(AU)


The case of a neonate in Regional Hospital Suddie of Guyana with neck tumor, was presented and diagnosed as cystic lymphangioma, rare malformation and whose diagnosis is made early in pregnancy by prenatal ultrasound evaluation of the region of the neck of the fetus. Excessive expansion or increased translucency in the hindhead may be related to a cystic lymphangioma. Congenital malformations are structural defects present at birth caused by a prenatal disorder during morphogenesis. Prenatal ultrasound performed in the first and second trimester of pregnancy by trained personnel is an average economic diagnosis and non-invasive allowing early diagnosis and taking behavior early in resource-poor countries(AU)


O caso de um neonato em Hospital Regional Suddie na Guiana foi apresentado com um tumor no pescoço, diagnosticado como higroma cístico, malformação freqüente e cujo diagnóstico é feito no início da gestação por ultrassonografia pré-natal com avaliação da região da nuca do feto. O aumento excessivo ou aumento da translucência nucal pode estar relacionado a um higroma cístico. Malformações congênitas são defeitos estruturais presentes no nascimento causados por um distúrbio pré-natal durante a morfogênese. A ultrassonografia pré-natal realizada no primeiro e segundo trimestres da gravidez por pessoal treinado é um meio de diagnóstico barato e não invasivo que permite o diagnóstico precoce e a conduta precoce em países com poucos recursos(AU)


Assuntos
Humanos , Recém-Nascido , Linfangioma Cístico/diagnóstico , Guiana
14.
Mol Cell Endocrinol ; 404: 102-12, 2015 Mar 15.
Artigo em Inglês | MEDLINE | ID: mdl-25633667

RESUMO

Several patients were identified with dyshormonogenesis caused by mutations in the thyroglobulin (TG) gene. These defects are inherited in an autosomal recessive manner and affected individuals are either homozygous or compound heterozygous for the mutations. The aim of the present study was to identify new TG mutations in a patient of Vietnamese origin affected by congenital hypothyroidism, goiter and low levels of serum TG. DNA sequencing identified the presence of compound heterozygous mutations in the TG gene: the maternal mutation consists of a novel c.745+1G>A (g.IVS6 + 1G>A), whereas the hypothetical paternal mutation consists of a novel c.7036+2T>A (g.IVS40 + 2T>A). The father was not available for segregation analysis. Ex-vivo splicing assays and subsequent RT-PCR analyses were performed on mRNA isolated from the eukaryotic-cells transfected with normal and mutant expression vectors. Minigene analysis of the c.745+1G>A mutant showed that the exon 6 is skipped during pre-mRNA splicing or partially included by use of a cryptic 5' splice site located to 55 nucleotides upstream of the authentic exon 6/intron 6 junction site. The functional analysis of c.7036+2T>A mutation showed a complete skipping of exon 40. The theoretical consequences of splice site mutations, predicted with the bioinformatics tool NNSplice, Fsplice, SPL, SPLM and MaxEntScan programs were investigated and evaluated in relation with the experimental evidence. These analyses predicted that both mutant alleles would result in the abolition of the authentic splice donor sites. The c.745+1G>A mutation originates two putative truncated proteins of 200 and 1142 amino acids, whereas c.7036+2T>A mutation results in a putative truncated protein of 2277 amino acids. In conclusion, we show that the c.745+1G>A mutation promotes the activation of a new cryptic donor splice site in the exon 6 of the TG gene. The functional consequences of these mutations could be structural changes in the protein molecule that alter the biosynthesis of thyroid hormones.


Assuntos
Povo Asiático/genética , Hipotireoidismo Congênito/genética , Bócio/congênito , Bócio/genética , Polimorfismo de Nucleotídeo Único , Sítios de Splice de RNA , Tireoglobulina/genética , Adolescente , Animais , Células COS , Chlorocebus aethiops , Hipotireoidismo Congênito/patologia , Éxons , Feminino , Bócio/patologia , Células HeLa , Heterozigoto , Humanos , Masculino , Linhagem , Análise de Sequência de DNA , Tireoglobulina/sangue , Vietnã
15.
Fetal Diagn Ther ; 37(1): 75-80, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-25138479

RESUMO

Massive microcystic congenital cystic adenomatoid malformation (CCAM) and bronchial atresia are associated with a high perinatal mortality secondary to lung hypoplasia and cardiac dysfunction, and fetal intervention should be considered to improve prognosis. Therapeutic options include open fetal surgery with pulmonary resection, fetal sclerotherapy and fetoscopy. We present a case with a severely enlarged left lung without ultrasound signs of dilated airways compatible with the diagnosis of microcystic CCAM, hydrops and severe contralateral lung hypoplasia that was treated successfully at 30 weeks of gestation by fetal bronchoscopy, through which bronchial atresia was identified at the end of the left mainstem bronchi and permeabilized by laser ablation. After fetal surgery, weekly follow-up showed a progressive decrease in the affected lung size and an increase in the contralateral hypoplastic lung size, demonstrating normal dimensions of both lungs at 34 weeks of gestation, reversal of the mediastinal shift, and complete disappearance of hydrops. A healthy neonate was delivered uneventfully at term with no need for respiratory support, and the boy is now doing well at 15 months of age. This report demonstrates that in cases with prenatal diagnosis of large microcystic CCAM, fetal bronchoscopy can be used to refine the diagnosis of bronchial atresia and as a therapeutic tool with good outcome.


Assuntos
Adenoma/cirurgia , Broncoscopia/métodos , Pulmão/cirurgia , Diagnóstico Pré-Natal/métodos , Atresia Pulmonar/cirurgia , Adenoma/diagnóstico por imagem , Feminino , Humanos , Recém-Nascido , Pulmão/diagnóstico por imagem , Masculino , Gravidez , Prognóstico , Atresia Pulmonar/diagnóstico por imagem , Resultado do Tratamento , Ultrassonografia
16.
Fetal Diagn Ther ; 38(2): 154-8, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-25228387

RESUMO

Congenital neck masses are associated with high perinatal mortality and morbidity secondary to airway obstruction due to a mass effect of the tumor with subsequent neonatal asphyxia and/or neonatal death. Currently, the only technique designed to establish a secure neonatal airway is the ex utero intrapartum treatment (EXIT) procedure, which involves neonatal tracheal intubation while fetal oxygenation is maintained by the uteroplacental circulation in a partial fetal delivery under maternal general anesthesia. We present a case with a giant cervical teratoma and huge displacement and compression of the fetal trachea that was treated successfully at 35 weeks of gestation with a novel fetoscopic procedure to ensure extrauterine tracheal permeability by means of a fetal endoscopic tracheal intubation (FETI) before delivery. The procedure consisted of a percutaneous fetal tracheoscopy under maternal epidural anesthesia using an 11-Fr exchange catheter covering the fetoscope that allowed a conduit to introduce a 3.0-mm intrauterine orotracheal cannula under ultrasound guidance. After FETI, a conventional cesarean section was performed uneventfully with no need for an EXIT procedure. This report is the first to illustrate that in cases with large neck tumors involving fetal airways, FETI is feasible and could potentially replace an EXIT procedure by allowing prenatal airway control.


Assuntos
Vértebras Cervicais/diagnóstico por imagem , Fetoscopia/métodos , Intubação Intratraqueal/métodos , Teratoma/diagnóstico por imagem , Ultrassonografia Pré-Natal/métodos , Adulto , Vértebras Cervicais/cirurgia , Feminino , Humanos , Recém-Nascido , Gravidez , Teratoma/cirurgia
17.
Mol Cell Endocrinol ; 381(1-2): 220-9, 2013 Dec 05.
Artigo em Inglês | MEDLINE | ID: mdl-23933148

RESUMO

The objective of this study was to perform genetic analysis in three brothers of Turkish origin born from consanguineus parents and affected by congenital hypothyroidism, goiter and low levels of serum TG. The combination of sequencing of DNA, PCR mapping, quantitative real-time PCR, inverse-PCR (I-PCR), multiplex PCR and bioinformatics analysis were used in order to detect TG mutations. We demonstrated that the three affected siblings are homozygous for a DNA inversion of 16,962bp in the TG gene associated with two deleted regions at both sides of the inversion limits. The inversion region includes the first 9bp of exon 48, 1015bp of intron 47, 191bp of exon 47, 1523bp of intron 46, 135bp of exon 46 and the last 14,089bp of intron 45. The proximal deletion corresponds to 27bp of TG intron 45, while the distal deletion spans the last 230bp of TG exon 48 and the first 588bp of intergenic region downstream TG end. The parents were heterozygous carriers of the complex rearrangement. In conclusion, a novel large imperfect DNA inversion within the TG gene was identified by the strategy of I-PCR. This aberration was not detectable by normal sequencing of the exons and exon/intron boundaries. Remarkably, the finding represents the first description of a TG deficiency disease caused by a DNA inversion.


Assuntos
Hipotireoidismo Congênito/genética , Tireoglobulina/genética , Sequência de Bases , Consanguinidade , Análise Mutacional de DNA , Estudos de Associação Genética , Humanos , Íntrons , Masculino , Dados de Sequência Molecular , Linhagem , Polimorfismo de Nucleotídeo Único , Deleção de Sequência , Inversão de Sequência , Tireoglobulina/deficiência
19.
Investig. Valdizana ; 3(2): 90-93, jul.-dic. 2009. tab
Artigo em Espanhol | LIPECS | ID: biblio-1108974

RESUMO

El objetivo de la investigación fue determinar la capacidad de acceso y utilización de alimentos y evaluar el estado nutricional de la población, el estudio se desarrolló con una muestra conformada por 58 familias de las zonas rurales de Macuay, Cascay y Pacapucro; en el distrito de Churubamba. Los resultados evidencian que el acceso de alimentos hacia la mesa familiar es en su mayoría proveniente de las actividades agrícolas, existiendo además el consumo de alimentos procesados como arroz, azúcar, fideos, aceite y sal (19 por ciento). Respecto a la frecuencia de consumo de alimentos, se observó que los alimentos como papa (93,1) por ciento azúcar, (100 por ciento), arroz (51,7 por ciento) avena (41 por ciento), aceite (100 por ciento) y maíz (34,4 por ciento), consumieron todos los días; leche fresca (41 por ciento) huevo (48 por ciento) pollo (50 por ciento); pocas verduras dos veces por semana; mensualmente carnes de res, gallina, cuy. Analizando que el mayor consumo de alimentos es a base de carbohidratos y grasas siendo deficiente en proteínas vitaminas y minerales; lo que evidencian un déficit de alimentación balanceada. En relación a la evaluación del estado nutricional de la muestra en estudio, se observó que el mayor índice de desnutrición lo presentaron los escolares de 6 a 10 años con un 39,5 por ciento de desnutrición crónica y un 34,9 por ciento de desnutrición aguda; así mismo, en niños menores de 5 años el 41,7 por ciento presentaron desnutrición crónica y un 33,5 por ciento desnutrición aguda. El acceso y la utilización de alimentos es deficiente lo que determina el estado nutricional de la población siendo la más afectada la población infantil y escolar.


The aim of the research work was to determine the capacity of access and use of food and at the same time evaluate the nutritional status of the population; the study was developed with a sample shaped by 58 families of the rural areas of Macuay, Cascay and Pacapucro; in the district of Churubamba. The results demonstrate that the food access toward the different homes is in its majority of the agricultural activities, existing also the consumption of food processed as rice,sugar, noodles, oil and salt (19 per cent). With respect to the frequency of food consumption, it was observed that the foods like potatoes (93,1) per cent sugar, (100 per cent), rice (51.7 per cent) oats (41 per cent), oil (100 per cent) and corn (34.4 per cent), they consumed every day; fresh milk (41 per cent) egg (48 per cent) chicken (50 per cent); few vegetables, twice per week; meat of cattle every month, hen, and cuy. Analyzing that the biggest consumption of food is based on carbohydrates and fats, being deficient inproteins, vitamins and minerals; what they demonstrate a deficit of balanced feeding. According on the assessment of the nutritional status of the sample in study, it was observed that students of 6 to 10 years old presented the greater index of malnutrition with a 39.5 per cent of chronic malnutrition and a 34.9 per cent of acute malnutrition; likewise, in children under 5 years old 41.7 per cent presented chronic malnutrition and a 33.5 per cent is with acute malnutrition. The access and the food use is deficient what determines the nutritional status of the population being the most affected the infantile and school population.


Assuntos
Masculino , Feminino , Humanos , Ingestão de Alimentos , Educação Alimentar e Nutricional , Estado Nutricional , Higiene dos Alimentos , Epidemiologia Descritiva , Peru
20.
Rev. enferm. Inst. Mex. Seguro Soc ; 12(3): 153-157, Septiembre-Dic 2004. graf
Artigo em Espanhol | LILACS, BDENF - Enfermagem | ID: biblio-969568

RESUMO

Introducción: La técnica aséptica en preparación de medicamentos intravenosos es en 90% de los casos responsabilidad de la enfermera, a medida que avanza la farmacología, la enfermera se enfrenta a un proceso complejo con mayores requerimientos para ejecutar en forma adecuada, segura y oportuna esta actividad. Objetivo: Identificar la concordancia entre conocimiento y realización de la técnica aséptica en la preparación de medicamentos por vía intravenosa. Metodología: Estudio transversal analítico. Mediante un muestreo por conveniencia, se reclutaron 54 enfermeras intensivistas y 19 médicos residentes de anestesia. Variables dependientes: Conocimiento y realización de la técnica aséptica en la preparación de medicamentos intravenosos. Se utilizó una guía de verificación y posteriormente se aplicaron los cuestionarios, bajo los lineamientos de la declaración de Helsinki. Resultados: El 43% de las enfermeras labora en turno vespertino y 89% de los médicos residentes se encontraban rotando en el turno matutino. Del total, 38 personas tienen conocimiento en relación al lavado de manos, 47% no lo realiza. Con una concordancia mediana de 37 personas que tienen conocimiento sobre la utilización del alcohol como bacteriostático, 56% no lo utiliza. De 47 personas que tienen conocimiento con respecto a la limpieza de frascos ámpulas en la preparación de medicamentos, 64% no lo realiza. Discusión: Los resultados obtenidos en este estudio son bastante desfavorables ya que sólo en el lavado de manos se encontró una concordancia mediana y en los otros aspectos estudiados existe discordancia; es preocupante que una práctica tan común y aparentemente sencilla no se lleve a cabo.


Introduction: Aseptic technique on preparing intravenous medications is in a 90% of the cases a nurse responsibility, as pharmacology takes advances, nurses are facing a complex process with major requirements to perform this task in a right, safety, and on time way. Objective: To identify the concordance between knowledge and performance of aseptic technique in preparation of intravenous medications. Methodology: Transversal, analytic study. Throughout sampling for convenience, 54 critical care nurses, and 19 doctors with anesthesia residency were studied. Dependent variables: knowledge and performance of aseptic technique in the preparation of intravenous medications. A verification guide was utilized and later on questionnaires were surveyed under the amendments of Helsinki Declaration. Results: 43% nurses were working in evening shift and 89% of the doctors with residency were floating in the morning shift. It was observed that 38 people had knowledge in relation to hand washing, 47% do not perform it. With a medium concordance, 37 people have knowledge on the use of the alcohol as bacteriostatic, 56% do not use it. From 47 people who have knowledge regarding to vial's cleaning in preparing medications, 64% do not perform it. Discussion: Results obtained in this study are quite unfavorable since only in hand washing it was found a medium concordance and in the others variables it was a discordance; it is a concern that such a common practice and apparently simple practice is not performed up by nurses and doctors.


Assuntos
Humanos , Prescrições de Medicamentos , Desinfecção , Desinfecção das Mãos , Conhecimentos, Atitudes e Prática em Saúde , Estudos Transversais , Conhecimento , Administração Intravenosa , México
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