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Br J Nurs ; 28(18): 1168, 2019 Oct 10.
Artigo em Inglês | MEDLINE | ID: mdl-31597056
J Clin Immunol ; 2019 Sep 11.
Artigo em Inglês | MEDLINE | ID: mdl-31512162


Mutations in the coiled-coil and DNA-binding domains of STAT1 lead to delayed STAT1 dephosphorylation and subsequently gain-of-function. The associated clinical phenotype is broad and can include chronic mucocutaneous candidiasis (CMC) and/or combined immunodeficiency (CID). We report a case of CMC/CID in a 10-year-old boy due to a novel mutation in the small ubiquitin molecule (SUMO) consensus site at the C-terminal region of STAT1 leading to gain-of-function by impaired sumoylation. Immunodysregulatory features of disease improved after Janus kinase inhibitor (jakinib) treatment. Functional testing after treatment confirmed reversal of the STAT1 hyper-phosphorylation and downstream transcriptional activity. IL-17 and IL-22 production was, however, not restored with jakinib therapy (ruxolitinib), and the patient remained susceptible to opportunistic infection. In conclusion, a mutation in the SUMO consensus site of STAT1 can lead to gain-of-function that is reversible with jakinib treatment. However, full immunocompetence was not restored, suggesting that this treatment strategy might serve well as a bridge to definitive therapy such as hematopoietic stem cell transplant rather than a long-term treatment option.

J Clin Immunol ; 37(1): 42-50, 2017 01.
Artigo em Inglês | MEDLINE | ID: mdl-27807805


PURPOSE: We aimed to achieve a retrospective molecular diagnosis by applying state-of-the-art genomic sequencing methods to past patients with T-B+NK+ severe combined immunodeficiency (SCID). We included identification of copy number variations (CNVs) by whole exome sequencing (WES) using the CNV calling method ExomeDepth to detect gene alterations for which routine Sanger sequencing analysis is not suitable, such as large heterozygous deletions. METHODS: Of a total of 12 undiagnosed patients with T-B+NK+ SCID, we analyzed eight probands by WES, using GATK to detect single nucleotide variants (SNVs) and small insertions and deletions (INDELs) and ExomeDepth to detect CNVs. RESULTS: We found heterozygous single- or multi-exon deletions in IL7R, a known disease gene for autosomal recessive T-B+NK+ SCID, in four families (seven patients). In three families (five patients), these deletions coexisted with a heterozygous splice site or nonsense mutation elsewhere in the same gene, consistent with compound heterozygosity. In our cohort, about a quarter of T-B+NK+ SCID patients (26%) had such compound heterozygous IL7R deletions. CONCLUSIONS: We show that heterozygous IL7R exon deletions are common in T-B+NK+ SCID and are detectable by WES. They should be considered if Sanger sequencing fails to detect homozygous or compound heterozygous IL7R SNVs or INDELs.

Éxons , Heterozigoto , Receptores de Interleucina-7/genética , Deleção de Sequência , Sequenciamento Completo do Exoma , Criança , Pré-Escolar , Variações do Número de Cópias de DNA , Feminino , Expressão Gênica , Humanos , Mutação INDEL , Ativação Linfocitária , Subpopulações de Linfócitos/imunologia , Subpopulações de Linfócitos/metabolismo , Masculino , Polimorfismo de Nucleotídeo Único , Receptores de Interleucina-7/metabolismo , Estudos Retrospectivos , Fator de Transcrição STAT5/metabolismo , Imunodeficiência Combinada Severa/diagnóstico , Imunodeficiência Combinada Severa/genética , Imunodeficiência Combinada Severa/imunologia , Imunodeficiência Combinada Severa/terapia , Fluxo de Trabalho
Nurs Stand ; 27(50): 48-55, 2013 Aug 14-20.
Artigo em Inglês | MEDLINE | ID: mdl-23944825


Maintaining optimum body temperature is essential to life, and taking and recording a patient's temperature is a fundamental nursing skill. Deviation from the normal range of body temperature can be an important clinical indicator of altered physiological status requiring further investigation. Correct technique and careful recording are important for accuracy because clinicians rely on clinical observations to make diagnoses and decide on treatment. Nurses need to be able to interpret single stand-alone temperature recordings as well as sequential pattern recordings in the context of safe and acceptable physiological boundaries.

Enfermagem Baseada em Evidências/métodos , Febre/diagnóstico , Febre/enfermagem , Hipotermia/prevenção & controle , Monitorização Fisiológica/métodos , Termometria/métodos , Temperatura Corporal/fisiologia , Febre/prevenção & controle , Humanos , Hipotermia/enfermagem , Termômetros , Termometria/instrumentação
Nurs Stand ; 26(39): 33, 2012 May 30.
Artigo em Inglês | MEDLINE | ID: mdl-28072133


Lynn McDonald (letters May 16) says the grounds of St Thomas' Hospital in London are the wrong place for the proposed memorial statue to Mary Seacole, pointing out that the hospital is more associated with Florence Nightingale and her work.

Nurs Manag (Harrow) ; 17(4): 30-3, 2010 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-20681403


Healthcare organisations undertake quality assurance to produce safe and effective patient care systems. Statutory quality assurance requirements are met through external reviews, monitoring and inspection processes, and each NHS trust must produce a corporate annual quality account. However, this can result in approaching audits as if they are 'tick-box activities'. This article discusses how organisations can avoid this trap by applying audit results to practice.

Auditoria Clínica/organização & administração , Enfermeiras Administradoras/organização & administração , Garantia da Qualidade dos Cuidados de Saúde/organização & administração , Medicina Estatal/organização & administração , Governança Clínica/organização & administração , Comunicação , Prática Clínica Baseada em Evidências , Retroalimentação Psicológica , Fidelidade a Diretrizes , Humanos , Relações Interprofissionais , Enfermeiras Administradoras/psicologia , Recursos Humanos de Enfermagem/organização & administração , Recursos Humanos de Enfermagem/psicologia , Guias de Prática Clínica como Assunto , Gerenciamento do Tempo/organização & administração , Reino Unido
Nutr Clin Pract ; 22(5): 545-52, 2007 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-17906278


BACKGROUND: The purpose of this study was to evaluate the effectiveness of insulin lispro and insulin glargine at controlling blood glucose in patients with type 2 diabetes mellitus in a cardiovascular intensive care unit (CICU) and receiving enteral tube feedings. METHODS: This was a pilot study with a retrospective control designed to evaluate an insulin protocol in patients admitted to the CICU in a level 3 teaching institution. Patients were 18-99 years of age with type 2 diabetes mellitus, receiving bolus tube feeding. The control group included 24 patients who were retrospectively studied to determine mean blood glucose level. A glycemic management protocol was developed that included glargine and lispro insulins to maintain blood glucose levels between 80 and 140 mg/dL. The study group consisted of 28 patients who were treated according to the glycemic management protocol. RESULTS: The mean blood glucose level of the retrospective control group was 225 mg/dL. The mean blood glucose level of the intervention group was 148 mg/dL. After protocol institution, 48.6% of blood glucose levels were within the goal blood glucose range of 80-140 mg/dL vs 8.26% (p = .01) before protocol institution. Hyperglycemia decreased from 90.0% to 47.2% (p < .0001) with institution of the protocol. CONCLUSIONS: The average blood glucose of the intervention group was slightly above the goal blood glucose range of 80-140 mg/dL; however, the study protocol was superior to the previous CICU blood glucose management protocol.

Glicemia/metabolismo , Diabetes Mellitus Tipo 2/tratamento farmacológico , Nutrição Enteral , Hiperglicemia/tratamento farmacológico , Hipoglicemiantes/uso terapêutico , Idoso , Cuidados Críticos/métodos , Diabetes Mellitus Tipo 2/sangue , Feminino , Hospitalização , Humanos , Hiperglicemia/sangue , Insulina/análogos & derivados , Insulina/uso terapêutico , Insulina Glargina , Insulina Lispro , Insulina de Ação Prolongada , Masculino , Projetos Piloto , Estudos Retrospectivos , Resultado do Tratamento