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1.
Barbarói ; (58): 47-64, jan.-jun. 2021. ilus
Artigo em Português | LILACS, INDEXPSI | ID: biblio-1150688

RESUMO

Este estudo buscou investigar as perspectivas de adolescentes sobre a prática de cuidado dos irmãos. A amostra foi composta por seis adolescentes de ambos os sexos, com idades entre 11 e 19 anos. Os dados foram coletados por meio de entrevistas semiestruturadas e as informações foram submetidas à análise de conteúdo. Ressalta-se a importância das atividades desempenhadas pelos adolescentes no contexto familiar para o sustento financeiro da família. A percepção do cuidador sobre o cuidado dispensado aos irmãos abarcou aspectos positivos e negativos, sendo também considerada uma prática normal e rotineira. Dentre os pontos positivos, constatou-se transmitir algo de bom aos irmãos, os desafios e facilidades na realização de atividades de cuidado com os irmãos menores. A prática do cuidado pode contribuir para o sentimento de importância no contexto familiar, como também ser percebida como uma falha das mães no cumprimento de suas responsabilidades. As percepções negativas referiram-se à limitação dos tempos de lazer, à rotina estressante e à mediação de brigas entre os irmãos menores. Evidencia-se a importância de analisar o que essa prática representa para os adolescentes cuidadores, já que esta pode estar associada a sentimentos de desconforto, influenciar o bem-estar, bem como limitar a realização de atividades de lazer.(AU)


This study sought to investigate the perspectives of adolescents about their sibling caretaking. The sample consisted of six adolescents of both sexes, aged between 11 and 19 years old. The data were collected through semi-structured interviews and were submitted to content analysis. The importance of the activities performed by adolescents in the family context for the financial support of the family is emphasized. The caregiver's perception of the care given to siblings contained positive and negative aspects, and was also considered to be routine practice. Among the positives factors, it was found to transmit something good to the siblings, the challenges and facilities in carrying out care activities to younger siblings. The sibling caretaking practice can contribute to the feeling of importance in the family context, as well as being perceived as a failure of mothers in carrying out their responsibilities. Negative perceptions referred to the limitation of leisure time, the stressful routine and the mediation of fights between younger siblings. The importance of analyzing what this practice represents for young caregivers is evident, as it can be associated with uncomfortable feelings, influence well-being, as well as limit the performance of leisure activities.(AU)


Este estudio buscó investigar las perspectivas de los adolescentes sobre la práctica del cuidado de los hermanos. La muestra estuvo formada por seis adolescentes de ambos sexos, con edades comprendidas entre los 11 y los 19 años. La información se recopiló a través de entrevistas semiestructuradas y la información se sometió a análisis de contenido. Se enfatiza la importancia de las actividades que realizan los adolescentes en el contexto familiar para el apoyo financiero de la familia. La percepción del cuidador sobre el cuidado brindado a los hermanos contenía aspectos tanto positivos como negativos, y también se considera una práctica normal y rutinaria. Entre los puntos positivos, se encontró transmitir algo bueno a los hermanos, los desafíos y facilidades para realizar actividades de cuidado con los hermanos menores. La práctica del cuidado puede contribuir al sentimiento de importancia en el contexto familiar, además de ser percibida como un fracaso de las madres en el cumplimiento de sus responsabilidades. Las percepciones negativas se referían a la limitación del tiempo libre, la rutina estresante y la mediación de peleas entre hermanos menores. Es evidente la importancia de analizar lo que representa esta práctica para los cuidadores adolescentes, ya que puede asociarse a sentimientos de malestar, influir en el bienestar, así como limitar la realización de actividades de ocio.(AU)


Assuntos
Humanos , Adolescente , Adolescente , Cuidadores , Irmãos , Família
2.
Arch. argent. pediatr ; 118(4): 252-: I-257, I, agosto 2020. tab, ilus
Artigo em Inglês, Espanhol | LILACS, BINACIS | ID: biblio-1118488

RESUMO

Introducción. La calidad de vida relacionada con la salud (CVRS) es una medida de resultado de salud. Evalúa el impacto subjetivo y global de las enfermedades en la vida cotidiana. Brinda información multidimensional sobre el bienestar físico, relación familiar y sus pares. Los estudios de CVRS de hermanos son limitados.Objetivo. Comparar CVRS de los hermanos de pacientes pediátricos con patologías reumáticas crónicas, trasplante renal o hepático con la de niños sanos con hermanos sin enfermedades crónicas.Resultados. Se compararon hermanos de niños con trasplante renal (n: 65), trasplante hepático (n: 35) y patologías reumáticas crónicas (n: 36) con el grupo control de niños sanos (n: 51). El grupo total de hermanos tuvieron puntuación más baja, estadísticamente significativa, en las dimensiones bienestar físico, amigos-apoyo social y recursos económicos. Los hermanos de trasplante renal tuvieron baja puntuación en las dimensiones de bienestar físico (p < 0,02; tamaño del efecto ­TE­: 0,66) y recursos económicos (p < 0,01; TE: 0,66). Los hermanos de trasplante hepático percibieron menor bienestar físico (p = 0,04), tenían menos amigos y apoyo social (p < 0,01), dificultades en el entorno escolar (p < 0,02) y recursos económicos (p < 0,01). Los hermanos de patologías reumáticas crónicas tuvieron menor bienestar físico (p < 0,05; TE: 0,44) y apoyo social-amigos (p < 0,01; TE: 0,58).Conclusión. La CVRS de niños/as sanos de hermanos con patologías crónicas es menor en bienestar físico, amigos-apoyo social y recursos económicos comparada con el grupo de niños sanos.


Introduction. Health-related quality of life (HRQoL) is a measure of health outcomes. It assesses the subjective and overall impact of diseases on daily life. It also provides multidimensional data about physical well-being, family and peers relations. HRQoL studies on siblings are limited.Objective. To compare HRQoL among siblings of pediatric patients with chronic rheumatic diseases, kidney or liver transplant and healthy children whose siblings had no chronic conditions.Results. The siblings of children with kidney transplant (n: 65), liver transplant (n: 35), and chronic rheumatic diseases (n: 36) were compared to the healthy children group (n: 51). The total siblings group had a lower, statistically significant score in the physical well-being, social support and peers, and financial resources dimensions. The siblings of kidney transplant patients had a low score in the physical well-being (p < 0.02; effect size [ES]: 0.66) and financial resources (p < 0.01; ES: 0.66) dimensions. The siblings of liver transplant patients perceived a lower physical well-being (p = 0.04), less social support and peers(p < 0.01), and difficulties in relation to school environment (p < 0.02) and financial resources (p < 0.01). The siblings of those with chronic rheumatic diseases had a lower score in the physical well-being (p < 0.05; ES: 0.44) and social support and peers (p < 0.01; ES: 0.58) dimensions.Conclusion. HRQoL among healthy children whose siblings have a chronic disease was lower in the physical well-being, social support and peers, and financial resources dimensions compared to the healthy children group.


Assuntos
Humanos , Masculino , Feminino , Pré-Escolar , Criança , Adolescente , Qualidade de Vida , Doença Crônica , Pacientes , Apoio Social , Estudos de Casos e Controles , Estudos Transversais , Irmãos , Relações Familiares
3.
Artigo em Chinês | WPRIM | ID: wpr-828306

RESUMO

OBJECTIVE@#To explore the molecular basis for two brothers affected with globozoospermia.@*METHODS@#Whole exome sequencing was carried out for both patients. Candidate variant was verified by Sanger sequencing and quantitative real-time PCR (qRT-PCR).@*RESULTS@#Whole exome sequencing, Sanger sequencing and qRT-PCR verification revealed a heterozygous c.384dup (p.Glu129*) variant in the DPY19L2 gene in the two brothers and their mother. A large heterozygous deletion, spanning approximately 164.5 kb and encompassing the entire DPY19L2 gene, was detected on chromosome 12 of the two patients and their father.@*CONCLUSION@#The c.384dup (p.Glu129*) variant and deletion of the DPY19L2 gene probably underlie the pathogenesis of globozoospermia in the two patients, which was in keeping with the autosomal recessive inheritance of disease in this pedigree.


Assuntos
Deleção de Genes , Variação Genética , Humanos , Infertilidade Masculina , Genética , Masculino , Proteínas de Membrana , Genética , Linhagem , Irmãos , Teratozoospermia , Genética , Sequenciamento Completo do Exoma
4.
Artigo em Inglês | WPRIM | ID: wpr-811266

RESUMO

Osteogenesis imperfecta is a heterogeneous group of connective tissue diseases that is predominantly characterized by bone fragility and skeletal deformity. Two siblings with undiagnosed type I osteogenesis imperfecta underwent orthognathic surgery for the treatment of facial asymmetry and mandibular prognathism. The authors report two cases of combined orthodontics and orthognathic surgery in patients with type I osteogenesis imperfecta, mandibular prognathism, and facial asymmetry.


Assuntos
Anormalidades Congênitas , Doenças do Tecido Conjuntivo , Assimetria Facial , Humanos , Ortodontia , Cirurgia Ortognática , Osteogênese Imperfeita , Osteogênese , Prognatismo , Irmãos
5.
Artigo em Inglês | WPRIM | ID: wpr-810966

RESUMO

BACKGROUND: Although the clinical importance of the immunological benefits of breastfeeding has been emphasized for decades, their direct relationship with acute pyelonephritis (APN) is still not clear. Our goal was to determine whether breastfeeding truly provides protection against APNs, while investigating the effects of other factors such as sex, age, mode of delivery, and birth weight on APN.METHODS: A total of 62 infants under 6 months of age who had both microbiologically and radiologically-confirmed APN were enrolled in the case group. Healthy infants (n = 178) who visited the hospital for scheduled vaccinations were enrolled in the control group. The following participant characteristics were compared between the case and control groups: age, sex, birth order among siblings, feeding methods, weight percentile by month, birth weight percentile by gestational age, gestational age at birth, and mode of delivery.RESULTS: Babies exclusively fed with manufactured infant formulae before 6 months of age had significantly higher risk for APN than breastfed or mixed-fed infants (odds ratio [OR], 3.4; 95% confidence interval [CI], 1.687–7.031; P = 0.001). Firstborn babies had lower risk for APN than 2nd- or 3rd-born babies (OR, 0.43; 95% CI, 0.210–0.919). Other factors that increased the risk for APN were low birth weight percentiles (OR, 8.33; 95% CI, 2.300–30.166) and birth via caesarean section (OR, 2.32; 95% CI, 1.097–4.887). There were more preterm births in the case group (10.9% vs. 1.7%; P = 0.002), but this did not increase the risk for APN (OR, 4.47; P = 0.063).CONCLUSION: Feeding exclusively with formula before 6 months of age was related to higher risk for APN, which demonstrates that breastfeeding has a protective effect against APN. The other risk factors for APN were birth order (≥ 2nd-born), low birth weight, and birth via caesarean section.


Assuntos
Ordem de Nascimento , Peso ao Nascer , Aleitamento Materno , Cesárea , Métodos de Alimentação , Feminino , Idade Gestacional , Humanos , Fórmulas Infantis , Lactente , Recém-Nascido de Baixo Peso , Recém-Nascido , Parto , Gravidez , Nascimento Prematuro , Pielonefrite , História Reprodutiva , Fatores de Risco , Irmãos , Infecções Urinárias , Vacinação
6.
Journal of Experimental Hematology ; (6): 1283-1291, 2020.
Artigo em Chinês | WPRIM | ID: wpr-827125

RESUMO

OBJECTIVE@#To analyze the effect of clinical features, routine laboratory examination and related gene mutation on the OS of patients with myelodysplastic syndrome (MDS) after hematopoietic stem cell transplantation (HSCT).@*METHODS@#121 patients diagnosed as MDS and underwent hematopoietic stem cell transplantation in the First Affiliated Hospital of Soochow University from October 2013 to August 2018 were selected. Basic information of the patients was collected, and blood cells, bone marrow blasts at initial diagnosis, chromosomal karyotypes and gene mutations of the patients were detected.The effect of different factors on overall survival (OS) was analyzed by statistical method.@*RESULTS@#Kaplan-Meier univariate analysis shows that OS was significanly different among different age groups. The 3-year OS rate of patients aged 0-29 years was (83.3±7.7) %, the 3-year OS rate in patients aged 30-49 years was (58.1±7.7 %), and the 3-year OS rate of patients aged 50-69 years was (31.0±22.6) %, which was statistically different (P<0.05) between different groups. There were also significant differences in OS among patients with different transplantation types. 3-year OS rate: HLA-matched sibling HSCT>unrelated HLA-matched HSCT>haploidentical HSCT>micro HSCT. The OS rate of patients with bone marrow blasts≥10% seems lower than blasts<10%, but there was no statistical difference.The 3-year OS rate of patients with chromosomal karyotype complex abnormality was (47.7±11.5) %, and that of patients without complex abnormality was (80±4.2) % which was statistical difference (P<0.05). Patients with DNMT3A, NRAS, TP53 and GATA2 mutations had shorter OS time compared with patients without mutation of these genes, which shows statistically significant (P<0.05). COX multivariate analysis showed that age, chromosome karyotype, DNMT3A, TET2, GATA2 and NRAS were the independent factors influencing OS of patients after HSCT, with statistically significant difference.@*CONCLUSION@#age of patients, donor selection of HSCT, chromosome karyotype, DNMT3A, NRAS, TP53, GATA2 and TET2 gene mutations are all independent factors affecting the OS of patients after HSCT. Therefore, the assessment of the OS of MDS patients with transplantation requires comprehensive consideration.


Assuntos
Adolescente , Adulto , Idoso , Criança , Pré-Escolar , Transplante de Células-Tronco Hematopoéticas , Células-Tronco Hematopoéticas , Humanos , Lactente , Recém-Nascido , Pessoa de Meia-Idade , Síndromes Mielodisplásicas , Prognóstico , Estudos Retrospectivos , Irmãos , Análise de Sobrevida , Adulto Jovem
7.
Psicol. USP ; 31: e200058, 2020.
Artigo em Português | LILACS, INDEXPSI | ID: biblio-1143508

RESUMO

Resumo Este artigo tem como objetivo descrever os sentidos das histórias de perda familiar na perspectiva de doze pessoas enlutadas devido à morte do cônjuge, filho, pai, mãe ou irmão. Foi realizada uma entrevista qualitativa com aplicação de roteiro temático e mapa de redes, sendo que a organização, integração e análise dos dados ocorreram por meio dos procedimentos de codificação da teoria fundamentada empiricamente. Destacam-se como resultados da pesquisa a construção de histórias e sentidos em torno do que foi perdido, do que causou a perda do familiar e do tipo de sofrimento e legados do luto. Conclui-se que os sentidos das histórias de perda parental reforçam a necessidade da promoção de conversações e ressignificações deste tipo de luto na vida adulta em diversos contextos relacionais de apoio ao luto.


Abstract This article describes the meanings of family loss stories from the perspective of 12 bereaved people due to the death of their spouse, son, father, mother or brother. A qualitative interview was conducted with the application of thematic scripts and network mapping, and the organization, integration and analysis of the data took place following the coding procedures of the Empirically Grounded Theory. The results show the construction of stories and meanings around what was lost, what caused the loss of family members, and the type of suffering and legacies of grief. The meanings of parental loss stories reinforce the need to promote conversations and reinterpretations of this type of mourning in adult life in different relational contexts to support mourning.


Résumé Cet article vise à décrire la signification des récits de pertes familiales à partir de 12 personnes endeuillées en raison du décès de leur conjoint, fils, père, mère ou frère. Un entretien qualitatif a été mené avec l'application d'un script thématique et d'une carte du réseau, et l'organisation, l'intégration et l'analyse des données ont eu lieu grâce aux procédures de codage de la Théorie Empiriquement Fondée. La construction de récits et de significations sur ce qui a été perdu, ce qui a causé la perte d'un proche et le type de souffrance et de legs de deuil sont les résultats marquants. Nous concluons que les significations des récits de perte parental renforcent le besoin de promouvoir des conversations et des réinterprétations de ce type de deuil à l'âge adulte dans différents contextes relationnels pour soutenir le deuil.


Resumen Este artículo tiene como objetivo describir los significados de las historias de pérdidas familiares desde la perspectiva de doce personas en duelo por la muerte del cónyuge, hijo, padre, madre o hermano. Se realizó una entrevista cualitativa con la aplicación del guion temático y el mapa de red, y la organización, integración y análisis de los datos se llevó a cabo por los procedimientos de codificación de la teoría empíricamente fundamentada. La construcción de historias y significados en torno a lo que se perdió, lo que causó la pérdida de miembros del familiar y el tipo de sufrimiento y legados de dolor se destacan como los resultados de la investigación. Se concluye que los significados de las historias de pérdida parental refuerzan la necesidad de promover conversaciones y reinterpretaciones de este tipo de duelo en la vida adulta en diferentes contextos relacionales para apoyar el duelo.


Assuntos
Humanos , Masculino , Feminino , Adulto , Pessoa de Meia-Idade , Luto , Cônjuges , Irmãos , Pai , Mães , Narração , Pesquisa Qualitativa , Angústia Psicológica
8.
Med. infant ; 26(1): 5-9, Marzo 2019. tab
Artigo em Espanhol | LILACS | ID: biblio-988450

RESUMO

El trastorno del espectro autista (TEA) es un trastorno del desarrollo, común de la niñez, con una fuerte predisposición genética y alta heredabilidad. El riesgo de recurrencia en hermanos oscila entre 10-20% y en caso de familias con dos o más niños afectados el riesgo de recurrencia aumenta hasta un 35%. Dentro de las pruebas complementarias para el diagnóstico, el gold standard es la escala ADOS, existe además una prueba de pesquisa, el M-CHAT. Objetivo: evaluar riesgo de recurrencia de TEA en hermanos menores de niños con diagnóstico de TEA. Materiales y Métodos: se realizó un estudio de tipo transversal, observacional y descriptivo. Fueron estudiados niños entre 18-36 meses, hermanos de pacientes con diagnóstico de TEA. La evaluación del desarrollo se realizó utilizando: Escalas CAT/CLAMS, M-CHAT y ADOS 2. Resultados: se estudiaron 39 hermanos. 25 fueron varones y 14 fueron mujeres. Se identificaron 5 niños con diagnóstico de TEA, por lo que el riesgo de recurrencia en la población estudiada fue de 13%, con una relación varón/mujer de 4/1. Del resto de la población estudiada, 13% reunieron criterios para fenotipo ampliado del autismo (Broader Autism Phenotype ­BAP­ en su sigla en inglés), 31% presentaron retraso del lenguaje(RL) y 7%retraso global del desarrollo (RGD). Solo el 36% presentó desarrollo típico. Conclusión: Los hermanos de niños afectados representan un grupo de riesgo para problemas del desarrollo, que debe ser tenido en cuenta por los profesionales de la salud que siguen longitudinalmente a niños con diagnóstico confirmado de TEA (AU)


Autism spectrum disorder (ASD) is a developmental disorder that is common in childhood with a strong genetic predisposition and high heritability. The risk of recurrence in siblings is found to be between 10-20% and in families with two or more affected children recurrence risk is as high as 35%. Among the complementary diagnostic tests, the gold standard is the ADOS scale, and additionally the M-CHAT screening test. Objective: To evaluate the recurrence risk of ASD in younger siblings of children diagnosed with ASD. Material and Methods: A cross-sectional, observational, descriptive study was conducted. Children between 18- 36 months of age, siblings of children diagnosed with ASD were studied. Development was assessed using the CAT/CLAMS, MCHAT, and ADOS 2 scales. Results: 39 siblings were studied; 25 were male and 14 female. Five children with ASD were identified, accounting for a recurrence risk of 13% in the study population and a male/female ratio of 4/1. Of the remaining children, 13% met the criteria for the broader autism phenotype (BAP), 31% had language delay (LD), and 7% global developmental delay (GDD). Only 36% had normal development. Conclusion: Siblings of affected children are at risk for developmental disorders that should be taken into account by health professionals that ongitudinally follow children with a confirmed diagnosis of ASD (AU)


Assuntos
Humanos , Lactente , Pré-Escolar , Recidiva , Irmãos , Transtorno do Espectro Autista/diagnóstico , Testes Neuropsicológicos , Estudos Transversais , Fatores de Risco , Insuficiência de Crescimento/diagnóstico , Estudo Observacional , Transtornos do Desenvolvimento da Linguagem/diagnóstico
9.
Artigo em Inglês | WPRIM | ID: wpr-719317

RESUMO

OBJECTIVE: The purpose of this study was to investigate the influence of heritability on the craniofacial soft tissue cephalometric characteristics of monozygotic (MZ) twins, dizygotic (DZ) twins, and their siblings (SIB). METHODS: The samples comprised Korean adult twins and their siblings (mean age, 39.8 years; MZ group, n = 36 pairs; DZ group, n = 13 pairs of the same gender; and SIB group, n = 26 pairs of the same gender). Thirty cephalometric variables were measured to characterize facial profile, facial height, soft-tissue thickness, and projection of nose and lip. Falconer's method was used to calculate heritability (low heritability, h2 0.9). After principal components analysis (PCA) was performed to extract the models, we calculated the intraclass correlation coefficient (ICC) value and heritability of each component. RESULTS: The MZ group exhibited higher ICC values for all cephalometric variables than DZ and SIB groups. Among cephalometric variables, the highest h2 (MZ-DZ) and h2 (MZ-SIB) values were observed for the nasolabial angle (NLA, 1.544 and 2.036), chin angle (1.342 and 1.112), soft tissue chin thickness (2.872 and 1.226), and upper lip thickness ratio (1.592 and 1.026). PCA derived eight components with 84.5% of a cumulative explanation. The components that exhibited higher values of h2 (MZ-DZ) and h2 (MZ-SIB) were PCA2, which includes facial convexity, NLA, and nose projection (1.026 and 0.972), and PCA7, which includes chin angle and soft tissue chin thickness (2.107 and 1.169). CONCLUSIONS: The nose and soft tissue chin were more influenced by genetic factors than other soft tissues.


Assuntos
Adulto , Queixo , Humanos , Lábio , Métodos , Nariz , Anafilaxia Cutânea Passiva , Irmãos , Gêmeos , Gêmeos Dizigóticos , Gêmeos Monozigóticos
10.
Artigo em Inglês | WPRIM | ID: wpr-766290

RESUMO

OBJECTIVES: Adolescence involves a number of developmental processes, as well as unique psychological characteristics and behaviors. An increased rate of internet and game addictions, school violence, and suicide may either represent aspects of adolescence or a psychopathological phenomenon. There is an urgent need to develop software programs that can prevent and resolve adolescent behavioral problems. We applied the mentalization theory to interpret and find solutions for problems faced by adolescent characters in literature. METHODS: In Joan Rowling's novel “Casual Vacancy,” Sukhvinder is a girl with problems representative of those encountered by modern adolescents; she is a victim of bullying and engages in self-mutilation. We targeted her problematic behaviors as representative of a prementalized state. RESULTS: Born into an upper-class English family with Pakistani origins, Sukhvinder, unlike her siblings, fails her parents' expectations. Whenever she faces a psychological crisis, she regresses into the teleological mode (the most primitive pre-mentalization stage) and regains her sense of self by cutting herself. After her friend's suicide, however, she begins to communicate with her parents and moves toward mentalization. CONCLUSION: By analyzing Sukhvinder's behavior, we assessed patterns of attachment, empathy, and mentalization, and identified corrective approaches for problematic behaviors. We believe that the presented interpretation may serve as a foundation for the development of models for understanding adolescent deviant behaviors.


Assuntos
Comportamento do Adolescente , Adolescente , Bullying , Empatia , Feminino , Humanos , Internet , Pais , Irmãos , Suicídio , Violência
11.
Artigo em Inglês | WPRIM | ID: wpr-764509

RESUMO

The infantile convulsions and choreoathetosis (ICCA) syndrome is defined when two overlapping clinical features of benign familial infantile epilepsy (BFIE) and paroxysmal kinesigenic dyskinesia (PKD) are present in an individual or a family. Since the gene encoding proline-rich transmembrane protein 2 (PRRT2) was first identified in Han Chinese families with PKD, mutations of PRRT2 have additionally been reported in patients with BFIE and ICCA. We attempted to identify the genetic etiology in an ICCA family where the proband, her elder sister, and a maternal male cousin had BFIE, and her mother had PKD. Whole-exome sequencing performed in the proband and her sister and mother identified a novel pathogenic mutation of PRRT2 (c.640delinsCC; p.Ala214ProfsTer11), which was verified by Sanger sequencing. This frameshift PRRT2 mutation located near the genetic hot spot of base 649_650 results in the premature termination of the protein, as do most previously reported mutations in BFIE, ICCA, and PKD.


Assuntos
Grupo com Ancestrais do Continente Asiático , Discinesias , Epilepsia , Mutação da Fase de Leitura , Humanos , Masculino , Mães , Convulsões , Irmãos
12.
Artigo em Inglês | WPRIM | ID: wpr-786526

RESUMO

Enteroviral infections are common in neonates. One important infection pathway is vertical transmission from an infected mother to her neonate. Here, we report the early detection and successful treatment of a vertically transmitted fulminant enteroviral infection associated with myocarditis and hepatitis. The patient had a sudden onset of high fever on the fourth day of life and developed severe, rapidly progressing symptoms of disseminated intravascular coagulopathy (DIC), hepatitis, and myocarditis accompanied by tachyarrhythmia. As it was the peak season for enteroviral infections and both the mother and the patient's 36-month-old sibling had a high fever around the time of delivery, we suspected an enteroviral infection. Thus, we initiated prompt evaluation of enteroviral infection, as well as close observation and intensive care of the neonate. We strongly recommend evaluation for the possibility of vertical enterovirus infection in neonates when the mother is suspected of having a viral infection (e.g., high fever and negative results from bacterial infectious studies) around the time of delivery and when the neonate shows some early symptoms of infectious diseases such as thrombocytopenia, DIC, hepatitis, and myocarditis. Early detection of enteroviral infections and prompt implementation of proper treatment are key to reduce the risk of complications and mortality associated with enteroviral infections in neonates.


Assuntos
Arritmias Cardíacas , Pré-Escolar , Doenças Transmissíveis , Cuidados Críticos , Dacarbazina , Enterovirus , Infecções por Enterovirus , Febre , Hepatite , Humanos , Recém-Nascido , Mortalidade , Mães , Miocardite , Estações do Ano , Irmãos , Taquicardia , Trombocitopenia
13.
Blood Research ; : 274-281, 2019.
Artigo em Inglês | WPRIM | ID: wpr-785538

RESUMO

BACKGROUND: Hematopoietic stem cell transplantation (HSCT) is a well-established treatment modality for a variety of diseases. Immune reconstitution is an important event that determines outcomes. The immune recovery of T cells relies on peripheral expansion of mature graft cells, followed by differentiation of donor-derived hematopoietic stem cells. The formation of new T cells occurs in the thymus and as a byproduct, T cell receptor excision circles (TRECs) are released. Detection of TRECs by PCR is a reliable method for estimating the amount of newly formed T cells in the circulation and, indirectly, for estimating thymic function. The aim of this study was to determine the role of TREC quantitation in predicting outcomes of human leucocyte antigen (HLA) identical allogenic HSCT.METHODS: The study was conducted on 100 patients receiving allogenic HSCT from an HLA identical sibling. TREC quantification was done by real time PCR using a standard curve.RESULTS: TREC levels were inversely related to age (P=0.005) and were significantly lower in patients with malignant diseases than in those with benign diseases (P=0.038). TREC levels could predict relapse as an outcome but not graft versus host disease (GvHD) and infections.CONCLUSION: Age and nature of disease determine the TREC levels, which are related to relapse.


Assuntos
Doença Enxerto-Hospedeiro , Transplante de Células-Tronco Hematopoéticas , Células-Tronco Hematopoéticas , Humanos , Métodos , Reação em Cadeia da Polimerase , Reação em Cadeia da Polimerase em Tempo Real , Receptores de Antígenos de Linfócitos T , Recidiva , Irmãos , Linfócitos T , Timo , Transplantes
14.
Artigo em Inglês | WPRIM | ID: wpr-785307

RESUMO

The dose of CD34+ cells is known to influence the outcome of allogeneic peripheral blood stem cell (PBSC) and/or T-cell-depleted transplantation. A previous study proposed that 2×10⁶ CD34+ cells/kg is the ideal minimum dose for allogeneic transplantation, although lower doses did not preclude successful therapy. In the case we present here, CD34+ cells were collected from a matched sibling donor on the day of allogeneic hematopoietic stem cell transplantation; however, the number of cells was not sufficient for transplantation. Consequently, PBSCs were collected three additional times and were infused along with cord blood cells from the donor that were cryopreserved at birth. The cumulative dose of total nuclear cells and CD34+ cells was 15.9×10⁸ cells/kg and 0.95×10⁶ cells/kg, respectively. White blood cells from this patient were engrafted on day 12. In summary, we report successful engraftment after infusion of multiple low doses of CD34+ cells in a patient with severe aplastic anemia.


Assuntos
Anemia Aplástica , Transplante de Células-Tronco de Sangue do Cordão Umbilical , Sangue Fetal , Transplante de Células-Tronco Hematopoéticas , Humanos , Leucócitos , Parto , Transplante de Células-Tronco de Sangue Periférico , Irmãos , Células-Tronco , Doadores de Tecidos , Transplante Homólogo
15.
Artigo em Inglês | WPRIM | ID: wpr-739231

RESUMO

OBJECTIVES: To investigate the genetic causes of hearing loss with enlarged vestibular aqueduct (EVA) in two children from unrelated two Chinese families. METHODS: Sanger sequencing of all coding exons in SLC26A4 (encoding Pendrin protein) was performed on the two patients, their sibling and parents respectively. To predict and visualize the potential functional outcome of the novel variant, model building, structure analysis, and in silico analysis were further conducted. RESULTS: The results showed that the proband from family I harbored a compound heterozygote of SLC26A4 c.1174A>T (p.N392Y) mutation and c.1181delTCT (p.F394del) variant in exon 10, potentially altering Pendrin protein structure. In family II, the proband was identified in compound heterozygosity with a known mutation of c.919-2A>G in the splice site of intron 7 and a novel mutation of c.1023insC in exon 9, which results in a frameshift and translational termination, consequently leading to truncated Pendrin protein. Sequence homology analysis indicated that all the mutations localized at high conservation sites, which emphasized the significance of these mutations on Pendrin spatial organization and function. CONCLUSION: In summary, this study revealed two compound heterozygous mutations (c.1174A>T/c.1181delTCT; c.919- 2A>G/c.1023insC) in Pendrin protein, which might account for the deafness of the two probands clinically diagnosed with EVA. Thus this study contributes to improve understanding of the causes of hearing loss associated with EVA and develop a more scientific screening strategy for deafness.


Assuntos
Grupo com Ancestrais do Continente Asiático , Criança , Codificação Clínica , Simulação por Computador , Surdez , Éxons , Atividade Extraespaçonave , Mutação da Fase de Leitura , Perda Auditiva , Heterozigoto , Humanos , Íntrons , Programas de Rastreamento , Pais , Homologia de Sequência , Irmãos , Aqueduto Vestibular
16.
Artigo em Inglês | WPRIM | ID: wpr-760201

RESUMO

PURPOSE: Information about overweight and obesity among students in rural areas of Thailand is limited. Therefore, we aimed to determine overweight and obesity prevalences and associated factors among school-aged children in a rural community of Thailand. METHODS: We selected 9 public schools through cluster sampling in 2 provinces located in central Thailand in 2016. Anthropometric measurements were measured using standard techniques, classified as overweight (>1 standard deviation [SD]) and obese (>2 SD) with respect to their age and sex using 2007 World Health Organization reference charts. Standardized questionnaires on risk factors were sent to parents to be completed together with their child. RESULTS: Among 1,749 students, 8.98% had overweight and 7.26% had obesity. Mean age (range) was 11.5 years (5–18 years). Independent factors associated with overweight and obesity included primary school student (reference as secondary school) (adjusted odds ratio [aOR], 2.25; 95% confidence interval [CI], 1.24–4.08; P=0.07), mother's body mass index (aOR, 1.07; 95% CI, 1.02–1.12; P=0.001), self-employed father (aOR, 1.99; 95% CI, 1.12–3.55; P=0.018), number of siblings (aOR, 0.61; 95% CI, 0.47–0.81; P=0.001), having sibling(s) with obesity (aOR, 1.82; 95% CI, 1.20–2.77; P=0.005), more than one (aOR, 7.16; 95% CI, 2.40–21.32; P3 ladles of rice/meal (aOR, 2.69; 95% CI, 1.11–6.46; P=0.27), watching 2 hours of television/day (aOR, 2.60; 95% CI, 1.36–4.96; P=0.004). CONCLUSION: Many sociodemographic, dietary, and behavioral factors were related to overweight and obesity among school-aged children not only in urban but also rural communities of Thailand.


Assuntos
Adolescente , Índice de Massa Corporal , Criança , Pai , Humanos , Obesidade , Razão de Chances , Sobrepeso , Pais , Prevalência , Fatores de Risco , População Rural , Irmãos , Tailândia , Organização Mundial da Saúde
17.
Artigo em Coreano | WPRIM | ID: wpr-760110

RESUMO

Woakes' syndrome is a group of disease which include recurrent nasal polyps resulting in the broadening of the nasal pyramid, the onset of hypoplasia of frontal sinus and bronchiectasis, as well as the production of mucous discharge. Children and young adults are mostly susceptible to Woakes' syndrome due to the plasticity of the bone. Even though the exact etiology is unknown, genetic factor is thought to be influential because it is often diagnosed in siblings. Otolaryngologically, the mainstream method of removing nasal polyp by endoscopic sinus surgery as well as topical or systemic treatment can be helpful. We report two siblings who visited our clinic both complaining of nasal obstruction. The patients presented with recurrent nasal polyps and showed signs of bronchiectasis, which led to the diagnosis of Woakes' syndrome. These rare cases are presented here with a review of related literature.


Assuntos
Bronquiectasia , Criança , Diagnóstico , Fibrinogênio , Seio Frontal , Humanos , Métodos , Obstrução Nasal , Pólipos Nasais , Plásticos , Irmãos , Adulto Jovem
18.
Artigo em Coreano | WPRIM | ID: wpr-759870

RESUMO

We reviewed past studies on the identification of familial relationships using 22 short tandem repeat markers. As a result, we can obtain a high discrimination power and a relatively accurate cut-off value in parent-child and full sibling relationships. However, in the case of pairs of uncle-nephew or cousin, we found a limit of low discrimination power of the likelihood ratio (LR) method. Therefore, we compare the LR ranking method and data mining techniques (e.g., logistic regression, linear discriminant analysis, diagonal linear discriminant analysis, diagonal quadratic discriminant analysis, K-nearest neighbor, classification and regression trees, support vector machines, random forest [RF], and penalized multivariate analysis) that can be applied to identify familial relationships, and provide a guideline for choosing the most appropriate model under a given situation. RF, one of the data mining techniques, was found to be more accurate than other methods. The accuracy of RF is 99.99% for parent-child, 99.44% for full siblings, 90.34% for uncle-nephew, and 79.69% for first cousins.


Assuntos
Classificação , Mineração de Dados , Discriminação Psicológica , Florestas , Humanos , Modelos Logísticos , Métodos , Repetições de Microssatélites , Irmãos , Máquina de Vetores de Suporte , Árvores
19.
Yonsei Medical Journal ; : 804-810, 2019.
Artigo em Inglês | WPRIM | ID: wpr-762103

RESUMO

Mortalities from cardiovascular disease in Korea have decreased markedly over the past three decades. The major cardiovascular and metabolic risk factors, however, remain prevalent, and their burden on health is large. The Cardiovascular and Metabolic Diseases Etiology Research Center (CMERC) planned a cohort study in order to identify novel risk factors and to develop evidence-based prevention strategies of cardiovascular and metabolic diseases. The CMERC deliberately designed two prospective cohorts, a community-based general population cohort (the CMERC cohort) and its sister cohort (a hospital-based high-risk patient cohort), covering a broad spectrum of cardiovascular and metabolic diseases. This paper describes the CMERC cohort study of community-dwelling adults aged 30 to 64 years. A total of 8097 adults completed baseline measurement between 2013 and 2018. Baseline measurements assessed socio-demographic factors, medical history, health-related behaviors, psychological health, social network and support, anthropometry, body composition, and resting blood pressure and comprised electrocardiography, carotid artery ultrasonography, fasting blood analysis, and urinalysis. Both active follow-up through an annual telephone survey and a 5-year on-site health examination survey and passive follow-up through secondary data linkage with national databases, such as national death records, have been applied. Researchers interested in collaborative research may contact the corresponding author.


Assuntos
Adulto , Antropometria , Pressão Sanguínea , Composição Corporal , Doenças Cardiovasculares , Artérias Carótidas , Estudos de Coortes , Atestado de Óbito , Eletrocardiografia , Jejum , Seguimentos , Humanos , Armazenamento e Recuperação da Informação , Coreia (Geográfico) , Doenças Metabólicas , Mortalidade , Estudos Prospectivos , República da Coreia , Fatores de Risco , Irmãos , Telefone , Ultrassonografia , Urinálise
20.
Artigo em Inglês | WPRIM | ID: wpr-764981

RESUMO

BACKGROUND: Acute necrotizing encephalopathy (ANE) is a rare, but potentially life threatening neurological condition in children. This study aimed to investigate its clinical spectrum, diagnostic and therapeutic dilemma, and prognosis. METHODS: Twelve children with ANE were included in the study. The diagnosis was made by clinical and radiological characteristics from January 1999 to December 2017 and their clinical data were retrospectively analyzed. RESULTS: A total of 12 children aged 6 to 93 months at onset (5 male: 7 female) were evaluated. The etiology was found in 4 of them (influenza A, H1N1; coxsackie A 16; herpes simplex virus; and RANBP2 gene/mycoplasma). The most common initial presentations were seizures (67%) and altered mental status (58%). The majority of the subjects showed elevation of aspartate aminotransferase/alanine aminotransferase with normal ammonia and increased cerebrospinal fluid protein without pleocytosis. Magnetic resonance imaging revealed increased T2 signal density in bilateral thalami in all patients, but the majority of the subjects (67%) also had lesions in other areas including tegmentum and white matter. Despite the aggressive immunomodulatory treatments, the long-term outcome was variable. One child and two sisters with genetic predisposition passed away. CONCLUSION: ANE is a distinctive type of acute encephalopathy with diverse clinical spectrum. Even though the diagnostic criteria are available, they might not be watertight. In addition, treatment options are still limited. Further studies for better outcome are needed.


Assuntos
Amônia , Ácido Aspártico , Encefalopatias , Líquido Cefalorraquidiano , Criança , Diagnóstico , Predisposição Genética para Doença , Humanos , Leucocitose , Imagem por Ressonância Magnética , Masculino , Prognóstico , Estudos Retrospectivos , Convulsões , Irmãos , Simplexvirus , Substância Branca
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