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1.
NASN Sch Nurse ; 36(6): 323-327, 2021 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-33853444

RESUMO

School nurses are seeing increased numbers of children who are living in poverty. The Missouri Community Action Program Poverty Simulation was presented to school nurses to increase their awareness of what it might be like to live in poverty and the related healthcare barriers. Participants shared their reactions and knowledge gained in the simulation in a postparticipation survey with the simulation facilitators. Some participants shared practice changes that they made as a result of their participation in the simulation, which included use of additional referral resources, being less judgmental, and increased empathy.


Assuntos
Enfermeiras e Enfermeiros , Serviços de Enfermagem Escolar , Criança , Humanos , Pobreza , Instituições Acadêmicas , Inquéritos e Questionários
2.
Am J Med Genet A ; 176(7): 1587-1593, 2018 07.
Artigo em Inglês | MEDLINE | ID: mdl-30160833

RESUMO

Ocular albinism type 1 (OA1) is caused by mutations in the GPR143 gene located at Xp22.2. The manifestations, which are due to hypopigmentation, are confined to the eyes and optic pathway. OA1 associated with late-onset sensorineural hearing loss was previously reported in a single family and hypothesized to be caused by a contiguous gene deletion syndrome involving GPR143 and the adjacent gene, TBL1X. Here, we report on a family with OA1, infertility, late-onset sensorineural hearing loss, and a small interstitial Xp microdeletion including the GPR143, TBL1X, and SHROOM2 genes. In addition, we re-examined a patient previously described with OA1, infertility and a similar Xp deletion with audiologic follow-up showing a late-onset sensorineural hearing loss. Our results raise an intriguing question about the possibility for TBL1X (absence) involvement in this type of hearing loss. However, our study cannot claim a causative relationship and more convincing evidence is needed before the hypothesis can be accepted that TBL1X could be involved in late-onset sensorineural hearing loss and that ocular albinism with late-onset sensorineural hearing loss can present itself as a contiguous gene deletion/microdeletion syndrome. The finding of infertility in all affected male patients demonstrates that this deletion, including the SHROOM2 gene, may be a potentially causative X-linked genetic factor of male infertility.


Assuntos
Albinismo Ocular/patologia , Proteínas do Olho/genética , Perda Auditiva Neurossensorial/patologia , Infertilidade/patologia , Glicoproteínas de Membrana/genética , Proteínas de Membrana/genética , Mutação , Transducina/genética , Adulto , Idoso , Albinismo Ocular/complicações , Albinismo Ocular/genética , Feminino , Deleção de Genes , Doenças Genéticas Ligadas ao Cromossomo X/complicações , Doenças Genéticas Ligadas ao Cromossomo X/genética , Doenças Genéticas Ligadas ao Cromossomo X/patologia , Perda Auditiva Neurossensorial/complicações , Perda Auditiva Neurossensorial/genética , Humanos , Infertilidade/complicações , Infertilidade/genética , Masculino , Pessoa de Meia-Idade , Linhagem
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