Family Counseling
Mostrando 1-12 de 74 artigos, teses e dissertações.
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1. Autopsy in a Neonatal Intensive Care Unit: pathological and clinical agreement
Abstract Objectives To evaluate neonatal autopsy rates at a tertiary hospital in southern Brazil ascertain the level of agreement between premortem and postmortem diagnosis. Methods The authors reviewed all neonatal autopsies performed over a 10-year period and described the percentage of neonates who died and underwent autopsy. The authors tested for agre
Jornal de Pediatria. Publicado em: 2022
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2. Genetic-molecular characterization in the diagnosis of primary immunodeficiencies
Abstract Objectives: To rescue medical genetics concepts that are necessary to understand the advances in the genetic-molecular characterization of primary immunodeficiencies, to help in the understanding and adequate interpretation of their results. Source of data: Non-systematic literature review, searching for articles since 2000 on PubMed using the ter
J. Pediatr. (Rio J.). Publicado em: 2021-04
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3. Vestibular Syndromes in Childhood and Adolescence
Abstract Introduction The prevalence of vestibular disorders in childhood ranges from 0.4% to 15%; they may be the result of several factors, but most of the time it's an episodic vestibular syndrome related to migraine equivalents. Objective To evaluate the diagnostic and therapeutic aspects of children with vestibular signs and symptoms. Methods The pre
Int. Arch. Otorhinolaryngol.. Publicado em: 2020-12
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4. Fabry disease: genetics, pathology, and treatment
SUMMARY Fabry disease (FD) is a recessive monogenic inheritance disease linked to chromosome X, secondary to mutations in the GLA gene. Its prevalence is estimated between 1:8,454 and 1:117,000 among males and is probably underdiagnosed. Mutations in the GLA gene lead to the progressive accumulation of globotriaosylceramide (Gb3). Gb3 accumulates in lysosome
Rev. Assoc. Med. Bras.. Publicado em: 13/01/2020
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5. Conflicts in Boards of Family Firms: A Theoretical Framework for Strategic Decision-Making
Resumo Conflitos são fenômenos sociais passíveis de ocorrem em qualquer tipo organizacional; entretanto, apresentam-se mais contundentes (e menos compreendidos) na dinâmica da empresa familiar, em função de efeitos psicodinâmicos exclusivos da interação entre família, gestão e propriedade. Paralelamente, conflitos podem ser também particularmente
Rev. adm. contemp.. Publicado em: 25/11/2019
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6. Investigation of mad honey use as an alternative treatment in patients admitted to the pulmonary clinic: Ordu, Turkey example
Abstract This study assessed mad honey use in alternative treatments. The universe of this descriptive study was patients admitted to the pulmonary disease clinic located in the Ordu province of the Black Sea region between 15 December 2014 and 15 February 2015. We did not use a sampling method and patients who agreed to participate were included in the stu
Braz. arch. biol. technol.. Publicado em: 25/11/2019
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7. Effectiveness of day care in supporting family caregivers of people with dementia: A systematic review
RESUMO O centro-dia (CD) permite uma pausa no cuidado diário como estratégia de apoio aos cuidadores familiares (CF) das pessoas com demência (PcD). Objetivo: analisar as estratégias de suporte aos CF oferecidas pelos CD, seus modelos metodológicos e teóricos, bem como os respectivos benefícios sobre sua sobrecarga, estratégias de enfrentamento e qu
Dement. neuropsychol.. Publicado em: 23/09/2019
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8. O cuidado do agressor familiar frequente: revisão integrativa da literatura
Resumo Objetivo Identificar as principais literaturas científicas sobre o cuidado prestado ao agressor familiar frequente e apresentar as experiências exitosas mais relevantes. Métodos Revisão integrativa da literatura, com busca de artigos publicados entre os anos de 2008 a 2017, nas bases de dados MEDLINE, CINAHL e SciELO. Resultados Dos 1.496 ar
Acta paul. enferm.. Publicado em: 29/07/2019
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9. A RECURRENT MUTATION IN TSHB GENE UNDERLYING CENTRAL CONGENITAL HYPOTHYROIDISM UNDETECTABLE IN NEONATAL SCREENING
RESUMO Objetivo: Descrever o caso de um paciente com hipotireoidismo congênito central (HCC) por conta de uma mutação recorrente no gene TSHB, bem como realizar um estudo genético de sua família. Descrição do caso: Relato de caso de um menino de 5 meses de idade com diagnóstico tardio de HCC isolado, em quem a análise molecular foi realizada 12
Rev. paul. pediatr.. Publicado em: 03/06/2019
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10. The Role of Next-Generation Sequencing in the Diagnosis of Lysosomal Storage Disorders
Abstract Next-generation sequencing (NGS) panels are used widely in clinical diagnostics to identify genetic causes of various monogenic disease groups including neurometabolic disorders and, more recently, lysosomal storage disorders (LSDs). Many new challenges have been introduced through these new technologies, both at the laboratory level and at the bioi
J. inborn errors metab. screen.. Publicado em: 30/05/2019
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11. Identification of a novel mutation in ARSA gene in three patients of an Iranian family with metachromatic leukodystrophy disorder
Abstract Metachromatic leukodystrophy disorder (MLD) is an autosomal recessive and lysosomal storage disease. The disease is caused by the deficiency of the enzyme arylsulfatase A (ARSA) which is encoded by the ARSA gene. Different mutations have been reported in different populations. The present study was aimed to detect the mutation type of the ARSA gene
Genet. Mol. Biol.. Publicado em: 06/11/2017
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12. Hereditary leiomyomatosis and renal cell carcinoma syndrome: a case report and implications of early onset
Abstract Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) is an autosomal dominant manifestation of cutaneous and uterine leiomyomas together with renal cancer due to autosomal dominant germline mutations of fumarate hydratase gene. A twenty-year-old female patient presented with type-II segmental piloleiomyoma and increased menstruation due to ute
An. Bras. Dermatol.. Publicado em: 2017