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1.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wprim-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
2.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wprim-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
3.
Med. infant ; 26(1): 5-9, Marzo 2019. tab
Artigo em Espanhol | LILACS (Américas) | 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
4.
Artigo em Coreano | WPRIM (Pacífico Ocidental) | ID: wprim-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
5.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wprim-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
6.
Blood Research ; : 274-281, 2019.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wprim-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
7.
Psychiatry Investigation ; : 450-458, 2019.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wprim-760947

RESUMO

OBJECTIVE: A popular design for the investigation of such effects, including effects of parent-of-origin (imprinting), maternal genotype, and maternal-fetal genotype interactions, is to collect deoxyribonucleic acid (DNA) from affected offspring and their mothers and to compare with an appropriate control sample. We investigate the effects of estimation of maternal, imprinting and interaction effects using multimodal modeling using parents and their offspring with schizophrenia in Korean population. METHODS: We have recruited 27 probands (with schizophrenia) with their parents and siblings whenever possible. We analyzed 20 SNPs of 7 neuronal genes in chromosome 18. We used EMIM analysis program for the estimation of maternal, imprinting and interaction effects using multimodal modeling. RESULTS: Of analyzed 20 single nucleotide polymorphisms (SNPs), significant SNP (rs 2276186) was suggested in EMIM analysis for child genetics effects (p=0.0225438044) and child genetic effects allowing for maternal genetic effects (p=0.0209453210) with very stringent multiple comparison Bonferroni correction. CONCLUSION: Our results are the pilot study for epigenetic study in mental disorder and help to understanding and use of EMIM statistical genetics analysis program with many limitations including small pedigree numbers.


Assuntos
Criança , Cromossomos Humanos Par 18 , DNA , Epigenômica , Genética , Genótipo , Humanos , Modelos Lineares , Transtornos Mentais , Mães , Neurônios , Pais , Linhagem , Projetos Piloto , Polimorfismo de Nucleotídeo Único , Esquizofrenia , Irmãos
8.
Psychiatry Investigation ; : 346-354, 2019.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wprim-760939

RESUMO

OBJECTIVE: The aim of this study was to investigate the rates childhood traumatic experiences (CTEs) of schizophrenia patients and to examine relationship between childhood traumatic experiences, dissociation and psychotic symptoms. METHODS: One hundred schizophrenia patients who had 5 or 5 points below in Clinical Global Impression-Severity (CGI-S) and who were not in active psychotic episode and 50 healthy siblings who grew up in the same environment with the patients were included to the study. Structured Clinical Interview for DSM IV, Scale for the Assessment of Positive Symptoms, Scale for the Assessment of Negative Symptoms, Dissociative Experiences Scale (DES), CGI-S, Global Assessment of Functioning Scale and Childhood Trauma Questionnaire (CTQ-28) applied to the patients. RESULTS: Childhood abuse subscales and DES scores were statistically higher in the patient group (p<0.001). We determined moderately significant positive correlation between CTQ-28 and DES. We determined moderately significant positive correlation between CTQ total scores and persecutory delusions, delusions of reference, ability to feel intimacy and closeness; relationship with friends and peers. Also, there was a significant positive correlation between persecutory delusions and CTQ-total, DES-total and all subscales of CTQ-28. CONCLUSION: Clinicians should inquire about CTEs to develop comprehensive formulations and treatment plans among schizophrenia.


Assuntos
Delusões , Amigos , Humanos , Esquizofrenia , Irmãos
9.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wprim-760855

RESUMO

Excessive weight gain in children diagnosed with celiac disease (CD) is becoming more common. We describe 2 siblings (9-year and 6 months-old female and 6-year and 9 months-old male) with obesity showing attenuated gastrointestinal and atypical symptoms in which CD was diagnosed in the absence of a known family history of CD. After children's diagnosis, CD in their parents was also investigated. It was detected in their father affected by overweight. The presentation of patients with CD has changed. While patients with overweight and obesity commonly have symptoms such as abdominal pain, reflux, headache, and constipation due to lifestyle factors, CD should also be considered in patients with or without a family history of CD. Careful nutritional status assessment and follow-up monitoring after the diagnosis of CD are mandatory, especially in subjects who are already overweight at the presentation of this disease.


Assuntos
Dor Abdominal , Doença Celíaca , Criança , Constipação Intestinal , Diagnóstico , Pai , Feminino , Seguimentos , Cefaleia , Humanos , Estilo de Vida , Estado Nutricional , Obesidade , Sobrepeso , Pais , Reconhecimento Psicológico , Irmãos , Ganho de Peso
10.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wprim-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 (Pacífico Ocidental) | ID: wprim-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
12.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wprim-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
13.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wprim-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
14.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wprim-741823

RESUMO

Benign recurrent intrahepatic cholestasis (BRIC), a rare cause of cholestasis, is characterized by recurrent episodes of cholestasis without permanent liver damage. BRIC type 2 (BRIC2) is an autosomal recessive disorder caused by ABCB11 mutations. A 6-year-old girl had recurrent episodes of jaundice. At two months of age, jaundice and hepatosplenomegaly developed. Liver function tests showed cholestatic hepatitis. A liver biopsy revealed diffuse giant cell transformation, bile duct paucity, intracytoplasmic cholestasis, and periportal fibrosis. An ABCB11 gene study revealed novel compound heterozygous mutations, including c.2075+3A>G in IVS17 and p.R1221K. Liver function test results were normal at 12 months of age. At six years of age, steatorrhea, jaundice, and pruritus developed. Liver function tests improved following administration of phenylbutyrate and rifampicin. Her younger brother developed jaundice at two months of age and his genetic tests revealed the same mutations as his sister. This is the first report of BRIC2 confirmed by ABCB11 mutations in Korean siblings.


Assuntos
Ductos Biliares , Biópsia , Criança , Colestase , Colestase Intra-Hepática , Feminino , Fibrose , Células Gigantes , Hepatite , Humanos , Icterícia , Fígado , Testes de Função Hepática , Prurido , Rifampina , Irmãos , Esteatorreia
15.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wprim-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
17.
Yonsei Medical Journal ; : 804-810, 2019.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wprim-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
18.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wprim-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
19.
Artigo em Coreano | WPRIM (Pacífico Ocidental) | ID: wprim-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
20.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wprim-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
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