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1.
Esc. Anna Nery Rev. Enferm ; 26: e20210088, 2022. tab
Article in Portuguese | LILACS, BDENF | ID: biblio-1339881

ABSTRACT

Resumo Objetivo: compreender, por meio do brinquedo terapêutico dramático, o significado, para o irmão, de visitar a criança hospitalizada em terapia intensiva. Método: pesquisa qualitativa, modalidade fenomenológica, que utilizou o brinquedo terapêutico dramático para acessar às experiências dos irmãos. Foi realizada em Unidade de Terapia Intensiva Pediátrica do interior do estado de São Paulo, Brasil. Participaram das sessões de brinquedo terapêutico 11 irmãos menores de 10 anos, as quais foram analisadas à luz da Teoria do Amadurecimento. Resultados: os irmãos, tendo um lugar para brincar, dramatizaram situações, anteriormente, vividas, de seu cotidiano e da visita à criança hospitalizada. Ao viver, criativamente, revelaram que brincar é fazer a integração das experiências do "eu", favorecendo o continuar a ser diante da situação vivida. Conclusões e implicações para a prática: o Brinquedo Terapêutico Dramático compreendido à luz de um referencial teórico possibilitou que o irmão significasse a visita como uma experiência de integração do "eu", revelando emoções, desejos e preferências do cotidiano. Nesse sentido, o cuidado ao irmão da criança hospitalizada define-se pela oferta do brincar livre, para que ele demonstre o sentimento de continuar a ser em suas interações com o mundo, no qual o contexto hospitalar tornou parte da realidade.


Resumen Objeto: Comprender por medio del juego terapéutico dramático el significado, para el hermano, de la visita al niño hospitalizado en Terapia Intensiva Pediátrica. Método: Investigación cualitativa, modalidad fenomenológica, que utilizó el juego terapéutico dramático para comprender la experiencia del hermano. Se realizó en Unidad de Terapia Intensiva Pediátrica del interior del Estado de São Paulo, Brasil. Participaron de las sesiones de juego terapéutico 11 hermanos con menos de 10 años, quienes fueron analizados a la luz de la Teoría de la Maduración. Resultados: Los hermanos, al tener un lugar para jugar, dramatizaron situaciones anteriormente vividas, de su cotidiano y de la visita al niño hospitalizado. Al vivir de forma creativa, revelaron que jugar es permitir la integración de las experiencias del "yo", lo que favorece el concepto de seguir siendo, ante la situación vivida. Conclusiones e implicaciones para la práctica: El Juego Terapéutico Dramático comprendido a la luz de un referencial teórico hizo posible que el hermano entendiera la visita como una experiencia de integración del "yo", revelando emociones, deseos y preferencias cotidianas. En este sentido, el cuidado del hermano del niño hospitalizado se define por la oferta de juego libre, para que pueda demostrar su sentimiento de seguir siendo en sus interacciones con el mundo, en el que el contexto hospitalario se ha convertido en parte de la realidad.


Abstract Objective: to understand, by means of dramatic therapeutic play, the meaning, for the sibling, of visiting the child hospitalized in intensive care. Method: a qualitative research, phenomenological modality, which used the dramatic therapeutic play to access the siblings' experiences. It was carried out in a Pediatric Intensive Care Unit in the countryside of the State of São Paulo, Brazil. Eleven siblings under ten years of age participated in the therapeutic play sessions, which were analyzed in the light of the Theory of Maturation. Results: the siblings, having a place to play, dramatized previously lived situations, from their daily life and from the visit to the hospitalized child. By living creatively, they revealed that playing is to integrate the experiences of the "I", favoring the continuity of being in the face of the situation lived. Conclusions and implications for practice: the Dramatic Therapeutic Play understood in the light of a theoretical framework allowed the sibling to mean the visit as an experience of integration of the "I", revealing emotions, desires and preferences of daily life. In this sense, the care for the brother of the hospitalized child is defined by the offer of free play, so that he demonstrates the feeling of continuing to be in his interactions with the world, in which the hospital context has become part of reality.


Subject(s)
Humans , Male , Female , Infant , Child, Preschool , Child , Play and Playthings/psychology , Visitors to Patients/psychology , Intensive Care Units, Pediatric , Child, Hospitalized , Siblings/psychology , Sibling Relations , Child Health , Creativity , Qualitative Research
3.
Barbarói ; (58): 47-64, jan.-jun. 2021. ilus
Article in Portuguese | LILACS, INDEXPSI | ID: biblio-1150688

ABSTRACT

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)


Subject(s)
Humans , Adolescent , Adolescent , Caregivers , Siblings , Family
4.
Article in Chinese | WPRIM | ID: wpr-922008

ABSTRACT

OBJECTIVE@#To provide a basis for genetic counseling and clinical precision therapy by exploring the genetic etiology of a child with recurrent hypoglycemia convulsion accompanied by language retardation.@*METHODS@#Peripheral blood samples were obtained from the proband, his sister and his parents. Whole genomic DNA was extracted and analyzed by the whole exon gene sequencing and confirmed by Sanger sequencing.@*RESULTS@#The proband and his sister were found to carry compound heterozygous variants c.731T>A (p.M244L) and c.928G>A (p.G244S) of the GYS2 gene, which had not been reported in the past, the c.731T>A (p.M244L) site was derived from the maternal heterozygous mutation, while c.928G>A (p.G244S) site from the father heterozygous mutation.@*CONCLUSION@#The compound heterozygous variants c.731T>A (p.M244L) and c.928G>A (p.G244S) of the GYS2 gene were the genetic cause of glycogen storage syndrome type 0 in children, providing basis for family genetic counseling. When the patient had Hypoglycemia often accompanied with convulsions, which was easy to be misdiagnosed as seizures, and the antiepileptic treatment was ineffective. After genetic diagnosis, the seizure can be controlled by improving diet to maintain blood glucose stability.


Subject(s)
Child , Exons , Glycogen , Heterozygote , Humans , Mutation , Pedigree , Siblings
5.
Article in Chinese | WPRIM | ID: wpr-922005

ABSTRACT

OBJECTIVE@#To report on a family which has two siblings with SCN2A mutation caused by germline mosaicism suffering from autism spectrum disorder/development delay (ASD/DD).@*METHODS@#Clinical data was collected for the proband and his parents. Next generation sequencing (NGS) was carried out on the proband and his parents. Suspected mutations were verified by Sanger sequencing of the proband, his parents and brother. To detect whether there is a low proportion of somatic mosaicism in the parents, a droplet digital PCR was conducted. The result of ddPCR showed that the father was germline mosaicism (0.233%).@*RESULTS@#NGS has identified a de novo splicing mutation of the SCN2A gene, c.605+1G>A, in the proband and his brother. Combined with its clinical phenotype and inheritance pattern, SCN2A was judged to be the pathogenic gene. Above findings strongly suggested parental germline mosaicism.@*CONCLUSION@#ASD/DD in siblings with SCN2A mutations caused by germline mosaicism. Paternal mosaicism should be considered as one of the important inheritance patterns for counseling parents with a child carrying SCN2A mutation. The ddPCR can help to reveal very low proportion of germline mosaicism.


Subject(s)
Autism Spectrum Disorder , Germ Cells , Humans , Male , Mosaicism , Mutation , /genetics , Siblings
6.
Article in Chinese | WPRIM | ID: wpr-921979

ABSTRACT

OBJECTIVE@#Two brothes with Seckel's syndrome 1(SCKL1) were reported and a literature review was carried to provide clinical and genetic information of this rare disease.@*METHODS@#Clinical data of the two children were collected, and the peripheral blood was extracted for whole exome sequencing. Literature of the disease were reviewed.@*RESULTS@#The two patients were 11 years and 9.5 years old when examined for short stature. They presented with intrauterine growth retardation, intellectual disability, microcephaly, birdhead-like face and coffee au lait spots. The bone age was more than 2 years behind the chronical age and the growth hormone levels were normal. Whole exome sequencing revealed novel compound heterozygous variants c.1A>G (p.M1?) and c.4853-18A>G of ART gene in both children.@*CONCLUSION@#Children with prenatal onset short stature, developmental delay, microcephaly and special facial featuresshould be considered for the possibility of Seckel's syndrome, whole exome sequencing could help to confirm the clinical diagnosis.


Subject(s)
Ataxia Telangiectasia Mutated Proteins/genetics , Child , Dwarfism/genetics , Humans , Intellectual Disability/genetics , Male , Microcephaly/genetics , Siblings , Whole Exome Sequencing
7.
Rev. Esc. Enferm. USP ; 55: e20210055, 2021.
Article in English, Portuguese | LILACS, BDENF | ID: biblio-1347024

ABSTRACT

ABSTRACT Becoming mother of a second child, as a parental transition phenomenon, poses a challenge to reflection in Nursing. This theoretical study intends to present a reflection on the being who being-in-the-world becomes mother of a second child. It is based on Heideggerian phenomenology and nursing thought. The text is organized around two axes: Heidegger's conceptual contributions and nursing thought. The Heideggerian ontological dimension, aligned with the humanistic presuppositions of Nursing, contributes to unfold the meanings of life experiences and broaden possibilities of caring of the being who being-in-the-world… becomes mother of a second child. Concomitantly, the access to the experience of women who being-in-the-world become mother of a second child enables widening comprehension of this phenomenon, which will certainly impact nurses' being-present in their daily care.


RESUMEN Convertirse en madre de un segundo hijo, en tanto que fenómeno de transición a la parentalidad, se configura como un desafío a la reflexión de Enfermería. Este estudio teórico pretende presentar una reflexión sobre el ser que, siendo-en-el-mundo, se convierte en madre de un segundo hijo a la luz de la fenomenología heideggeriana y del pensamiento enfermero. El texto se organizó en torno a dos ejes: las contribuciones conceptuales de Heidegger y el pensamiento enfermero. Se identifica que la dimensión ontológica heideggeriana, junto con los presupuestos humanísticos de la Enfermería, contribuyen a desvelar los sentidos de lo vivido y a ampliar las posibilidades de cuidar al ser que, siendo-en-el-mundo… se convierte en madre de un segundo hijo. Concomitantemente, el acceso a la experiencia de la mujer que, siendo-en-el-mundo, se convierte en madre de un segundo hijo, permite abrir el horizonte de comprensión del fenómeno, lo que sin duda repercutirá en el modo de ser-presente de los enfermeros en sus cuidados diarios.


RESUMO Tornar-se mãe de um segundo filho, enquanto fenómeno de transição na parentalidade, configura-se como um desafio à reflexão em Enfermagem. Pretende-se neste estudo teórico apresentar uma reflexão sobre o ser que sendo-no-mundo se torna mãe de um segundo filho à luz da fenomenologia heideggeriana e do pensamento de enfermagem. O texto foi organizado em torno de dois eixos: os contributos conceptuais de Heidegger e o pensamento de enfermagem. Identifica-se que a dimensão ontológica heideggeriana, alinhada com os pressupostos humanísticos da Enfermagem, contribui para desvelar os sentidos do vivido e ampliar as possibilidades de cuidar do ser que sendo-no-mundo… se torna mãe de um segundo filho. Concomitantemente, o acesso à experiência da mulher que sendo-no-mundo se torna mãe de um segundo filho permite abrir o horizonte de compreensão face ao fenómeno, o que certamente terá impacto no modo de ser-presente do enfermeiro no quotidiano de cuidados.


Subject(s)
Family , Mothers , Nursing , Parenting , Siblings
8.
Medicina (B.Aires) ; 80(6): 654-662, dic. 2020. graf
Article in English | LILACS | ID: biblio-1250288

ABSTRACT

Abstract We retrospectively analyzed 570 adult patients who received allogeneic stem cell transplantation for malignant diseases. The outcomes were compared according to donor type. Most of the patients (60%) were transplanted for acute leukemia. Median follow-up was 1.6 years. Haploidentical allogeneic stem cell transplantation was more frequently performed for acute myeloid leukemia and in late stages than any other donor type. Non-relapse mortality at 100 days and one year for unrelated and haploidentical donors were similar, 19%-29% vs. 17%-28%, respectively. A significant better non-relapse mortality was observed for matched sibling donors (7%-15%; p < 0.001). Relapse rate was higher in haploidentical donors compared to matched sibling and unrelated donors (three year relapse rate 46%, 39%, 28%; respectively p < 0.001). Haploidentical donors resulted in lower three year progression-free survival and worse 3 year overall survival (32%; p < 0.001 and 42%; p < 0.001) compared with other donors (44% and 55% MSD, 40% and 42% UD, respectively). The incidence of grade II-IV acute graft-versus-host disease was higher in unrelated donors (51% unrelated, 35% haploidentical, 36% matched sibling; respectively; p = 0.001), with no difference in grades III-IV (p = 0.73) or in chronic graft-versus-host disease (p = 0.2) between groups. After multivariate analysis, haploidentical and unrelated donors remained negatively associated with non-relapse mortality (HR 1.95; 95% CI 1.10-3.20 and HR 2.70; 95% CI 1.63-4.46, respectively). Haploidentical donors were associated with a higher risk of relapse and worse overall survival. This analysis shows that haploidentical donors were associated with similar non-relpase mortality and higher relapse rates than unrelated donors. Better results in non-relapse mortality were observed for matched sibling donors.


Resumen Se efectuó un análisis retrospectivo de 570 pacientes adultos que recibieron un trasplante alogénico de precursores hematopoyéticos, comparando los resultados según el tipo de donante. La mediana de seguimiento fue de 1.6 años. El 60% de la población se trasplantó por leucemias agudas. Los trasplantes haploidénticos se hicieron en su mayoría en leucemia mieloide aguda y en estadios tardíos en comparación a otros donantes. La mortalidad libre de enfermedad al día +100 y a 1 año fue similar para los donantes no emparentados y haploidénticos (19% y 29% vs. 17% y 28%, respectivamente). Se obtuvieron mejores resultados con donantes relacionados idénticos (7% y 15%; p < 0.001). La recaída fue mayor en los donantes haploidénticos (tres años 46% haploidénticos, 39% relacionados idénticos, 28% no emparentados; p < 0.003). El trasplante con donante haploidéntico presentó una menor supervivencia libre de progresión y menor supervivencia global a tres años (32%; p < 0.001 y 42%; p < 0.001). La incidencia de enfermedad injerto contra huésped aguda fue mayor en no emparentados (51%, 35% haploidénticos, 36% relacionados idénticos; p = 0.001), sin diferencias en grados III-IV (p = 0.73) o en EICH crónica (p = 0.2). Los trasplantes con donante haploidéntico y no emparentado mantuvieron su asociación negativa con mortalidad libre de enfermedad (HR 1.95; 95%IC 1.10-3.20 y HR 2.70; 95%IC 1.63-4.46), en análisis multivariado. El trasplante haploidéntico se asoció a mayor recaída y a menor supervivencia global. Esta experiencia mostró similar mortalidad libre de enfermedad entre trasplantes con donantes haploidénticos y no emparentados. Los trasplantes relacionados idénticos mostraron menores tasas de mortalidad libre de enfermedad.


Subject(s)
Humans , Adult , Hematopoietic Stem Cell Transplantation , Graft vs Host Disease , Retrospective Studies , Bone Marrow Transplantation , Disease-Free Survival , Siblings
9.
Arch. argent. pediatr ; 118(4): 252-: I-257, I, agosto 2020. tab, ilus
Article in English, Spanish | LILACS, BINACIS | ID: biblio-1118488

ABSTRACT

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.


Subject(s)
Humans , Male , Female , Child, Preschool , Child , Adolescent , Quality of Life , Chronic Disease , Patients , Social Support , Case-Control Studies , Cross-Sectional Studies , Siblings , Family Relations
10.
Rev. colomb. nefrol. (En línea) ; 7(1): 97-112, ene.-jun. 2020. tab, graf
Article in Spanish | LILACS, COLNAL | ID: biblio-1144377

ABSTRACT

Resumen La acidosis tubular renal distal es causada por un defecto en la excreción de iones de hidrogeno a nivel tubular distal, lo que aumenta el pH de la orina y disminuye el pH plasmático; esta es una enfermedad con varias manifestaciones clínicas asociadas. En este artículo se hace una revisión profunda sobre la acidosis tubular renal distal y se presenta el caso de tres hermanos (dos hombres y una mujer) con la entidad, siendo este uno de los primeros casos familiares reportados en Colombia. Los tres pacientes recibieron el diagnóstico durante el período de lactancia, presentaron nefrocalcinosis y tuvieron buena respuesta a la terapia con álcali iniciada de forma temprana, logrando eventualmente su suspensión. De manera curiosa, uno de los pacientes también presentó deficiencia de mevalonato quinasa con hiperinmunoglobulinemia D, una alteración no descrita con anterioridad. Esta asociación y la aparente falta de necesidad de continuar el manejo con álcali son atípicas a la luz del conocimiento actual, mereciendo especial consideración.


Abstract The distal renal tubular acidosis presents due to a defect in the excretion of hydrogen ions at the distal tubular level, causing an increase in the pH of the urine and a decrease in the plasma pH, with several associated clinical manifestations. This article makes a thorough review of distal renal tubular acidosis and presents the case of three siblings with the entity, two men and one woman, this being one of the first family cases reported in Colombia. All three received the diagnosis during the lactation period, presented nephrocalcinosis and good response to the alkali therapy started early, eventually achieving their suspension. Interestingly, one of them also presented deficiency mevalonate-kinase with hiperinmunoglobulinemia D, alteration not previously described. This association and the apparent lack of need for continued management with alkali are atypical in the light of current knowledge, deserving special consideration.


Subject(s)
Humans , Male , Female , Acidosis, Renal Tubular , Patients , Colombia , Siblings , Genetics , Nephrocalcinosis
11.
Rev. chil. pediatr ; 91(2): 226-231, abr. 2020. tab
Article in Spanish | LILACS | ID: biblio-1098895

ABSTRACT

Resumen: Introducción: La sangre de cordón umbilical (SCU) como fuente para trasplante de células proge- nitoras hematopoyéticas (TPH) está bien establecida. Internacionalmente, menos del 10% de los TPH de SCU corresponde a donantes hermanos compatibles. Dentro de la red del Programa Infantil Nacional de Drogas Antineoplásicas (PINDA), existe desde enero 2004 un programa de donación dirigida de SCU para TPH. Pacientes y Método: Se diseñó un estudio observacional, retrospectivo, descriptivo, se revisaron el número y características de las unidades de SCU recolectadas en el PINDA y el número, características y evolución de los pacientes trasplantados con esas unidades entre enero de 2004 y octubre de 2018. Resultados: Sesenta unidades de SCU han sido recolectadas, de ellas 55 con registro completo. La mediana de volumen de las unidades almacenadas fue 74,8 ml (30,0-170,8), la mediana de células nucleadas totales 7,6 x 10e8 (2,0-21,1), mediana de células CD34+ 1,6 x 10e6 (0,2-11,6). Cuatro pacientes con leucemias de alto riesgo fueron trasplantados; mediana de segui miento es de 8 años. Todos desarrollaron complicaciones severas post TPH, uno de ellos falleció de recaída y los tres actualmente vivos presentan un Karnofsky/Lansky 100%. Conclusión: El programa ha permitido el trasplante de 4 pacientes que de otro modo no habrían tenido acceso a un donante. Este programa de donación dirigida puede ser considerado una primera etapa para el desarrollo de un banco público de sangre de cordón umbilical en Chile.


Abstract: Introduction: Cord blood (CB) as a source of Hematopoietic Stem Cells for Transplantation (HSCT) is well established. Worldwide, nonetheless, less than 10% of the CB HSCTs are performed with a match sibling donor. Since 2004, the Chilean National Childhood Cancer Program (PINDA) net work, has established a CB directed donation program for HSCT. Patients and Method: An obser vational, descriptive and retrospective study was designed to assess the number and characteristics of the CB units collected in the program as well as the number, clinical characteristics and follow-up of the patients who received an HSCT from those CB units between January 2004 and October 2018. Results: Sixty CB units have been collected; 55 of them with full records and stored. The median volume collected was 74.8 ml (30.0-170.8), the median number of total nucleated cells was 7.6 x 10e8 (2.0-21.1), and the median of CD34+ cells was 1.6 x 10e6 (0.2-11.6). Four high-risk leukemia patients received HSCT, all of them developed severe complications after transplantation and one patient died due to relapse. Those patients currently alive have a 100% Karnofsky/Lansky score. The median follow-up time was 8 years. Conclusion: The PINDA program has allowed 4 patients to be transplan ted who otherwise would not have had access to a donor. This directed donation program could be seen as a model for the development of a public cord blood bank in Chile.


Subject(s)
Humans , Male , Female , Infant, Newborn , Infant , Child, Preschool , Child , Adolescent , Blood Donors , Hematopoietic Stem Cell Transplantation/adverse effects , Hematopoietic Stem Cell Transplantation/methods , Siblings , Directed Tissue Donation , Fetal Blood , Chile , Public Health , Retrospective Studies , Follow-Up Studies , Outcome Assessment, Health Care , National Health Programs
12.
Prensa méd. argent ; 106(2): 110-118, 20200000. tab, graf
Article in English | LILACS, BINACIS | ID: biblio-1369471

ABSTRACT

Breast cancer is first ranking malignancies in Iraq. Family history of cancer is an important factor for cancer occurrence and development in next generation. The study aimed to determine the validity of family history of cancer by population-based and clinic-based family registries, evaluate the concurrence of cancer affected by family history in their first-, and second-degree relatives. An observational studies of total 62 relatives membered of 44 Iraqi breast cancer families were included. We conducted study at period between December 2018 and June 2019. Data collected according NCCN Genetic Testing Criteria for Hereditary Breast and Ovarian Cancer Syndrome. Risk ratio (RR) used to evaluating predilection of family cancer risk. We addressed forty-four Iraqi breast cancer families who have sixty-two members with cancer. The age mean±SD was 51.8±12.6, and median=48.5 years. Meanwhile the age mean±SD= 51.6±11.9 years for relatives. M:F ratio equal to 3:1. Sister, mother and aunt/uncle were most common relative affected. Breast cancer represented the most frequent types found in 46.7% of patients. Mothers (RR=1.313), and/or sisters (RR=1.6), lead to increased risk of cancer development in other family members or next generation. The first degree relatives recorded more than the second degree relatives. This is the first study conducting in Iraq dealing with cancer risk at the level of families. The age of patients didn't differ from age at diagnosis, concluding there is no active screening programs run through Iraqi families. Sister, mother and aunt/uncle are the most relatives affect. The 1st-degree relatives more frequent than the 2nd-degree. Breast cancer represented the most common types found members studied. Mothers and sisters have highly risk ratio for developing family cancer among other individuals.


Subject(s)
Humans , Breast Neoplasms/diagnosis , Family , Genetic Testing , Siblings , Hereditary Breast and Ovarian Cancer Syndrome/diagnosis , Genetic Background , Medical History Taking/statistics & numerical data , Odds Ratio
14.
Article in Chinese | WPRIM | ID: wpr-828306

ABSTRACT

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.


Subject(s)
Gene Deletion , Genetic Variation , Humans , Infertility, Male , Genetics , Male , Membrane Proteins , Genetics , Pedigree , Siblings , Teratozoospermia , Genetics , Whole Exome Sequencing
15.
Health Sciences Journal ; : 46-52, 2020.
Article in English | WPRIM | ID: wpr-876135

ABSTRACT

@#Introduction Chronically-ill patients are known to pose an impact on the family function (FF) and quality of life (QoL) of their family caregivers and pediatric siblings. However, there is limited literature on the relationship between FF and QoL. This study aimed to determine the correlation of FF and QoL among healthy young adults with siblings with chronic diseases. Methods This was an analytical cross-sectional study among young adults, selected by purposive sampling, with chronically-ill siblings. The CAPGAR and WHOQOL-BREF questionnaires were used for data collection. Spearman’s correlation coefficient r was used to determine the correlation between FF and QoL. Results More than half (53.9%) of the respondents had highly functional families. Majority of the participants (66.5%) had fair QoL. There was a weak but significant positive correlation (r = 0.27, p < 0.001) between FF and QoL. Conclusion There is a weak but significant positive correlation between family function and quality of life among healthy young adults with a sibling suffering from a chronic debilitating illness.


Subject(s)
Quality of Life , Siblings
16.
Article in Chinese | WPRIM | ID: wpr-879504

ABSTRACT

OBJECTIVE@#To detect genetic variant in a sib-pair with Finnish type congenital nephrotic syndrome (CNF).@*METHODS@#Clinical data of the sib-pair was reviewed. Coding regions of the NPHS1 gene was analyzed for the sib-pair and both parents.@*RESULTS@#The sister and brother respectively developed severe proteinuria 1 month and 28 days after birth, in addition with low serum albumin, hypercholesterolemia and severe edema, which were suggestive of CNF. Genetic testing identified that the sib-pair has both carried two heterozygous variants of NPHS1 gene, namely c.2605G>C (p.P869>A) and c.-61G>A, for which their father and mother were heterozygous carriers.@*CONCLUSION@#The c.2605G>C (p.869P>A) and c.-61G>A variants of the NHPS1 gene probably underlay the CNF in both sibs. The c.2605G>C(p.869P>A) was unreported previously.


Subject(s)
Adult , Female , Humans , Infant, Newborn , Male , Membrane Proteins/genetics , Mutation , Nephrotic Syndrome/genetics , Siblings
17.
Article in English | WPRIM | ID: wpr-811266

ABSTRACT

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.


Subject(s)
Congenital Abnormalities , Connective Tissue Diseases , Facial Asymmetry , Humans , Orthodontics , Orthognathic Surgery , Osteogenesis Imperfecta , Osteogenesis , Prognathism , Siblings
18.
Article in English | WPRIM | ID: wpr-810966

ABSTRACT

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.


Subject(s)
Birth Order , Birth Weight , Breast Feeding , Cesarean Section , Feeding Methods , Female , Gestational Age , Humans , Infant Formula , Infant , Infant, Low Birth Weight , Infant, Newborn , Parturition , Pregnancy , Premature Birth , Pyelonephritis , Reproductive History , Risk Factors , Siblings , Urinary Tract Infections , Vaccination
19.
Journal of Experimental Hematology ; (6): 1283-1291, 2020.
Article in Chinese | WPRIM | ID: wpr-827125

ABSTRACT

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.


Subject(s)
Adolescent , Adult , Aged , Child , Child, Preschool , Hematopoietic Stem Cell Transplantation , Hematopoietic Stem Cells , Humans , Infant , Infant, Newborn , Middle Aged , Myelodysplastic Syndromes , Prognosis , Retrospective Studies , Siblings , Survival Analysis , Young Adult
20.
Psicol. USP ; 31: e200058, 2020.
Article in Portuguese | LILACS, INDEXPSI | ID: biblio-1143508

ABSTRACT

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.


Subject(s)
Humans , Male , Female , Adult , Middle Aged , Bereavement , Spouses , Siblings , Fathers , Mothers , Narration , Qualitative Research , Psychological Distress
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