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BMJ Case Rep ; 14(8)2021 Aug 02.
Artigo em Inglês | MEDLINE | ID: mdl-34340988


A 42 year-old Caribbean woman with, known type 2 diabetes, was admitted with worsening fatigue, arthritis and rashes. She was diagnosed with multisystem systemic lupus erythematosus and was initially treated with systemic steroids. During this admission, she had persistently elevated capillary glucose levels with insulin requirements over 8 U/kg/day that still did not control her blood glucose levels. Due to her profound hyperglycaemia, serum samples of fasting insulin, C-peptide, paired with blood glucose were analysed, which confirmed significant hyperinsulinaemia. Further analysis confirmed the presence of insulin receptor antibodies consistent with type B insulin resistance.She was started on intravenous cyclophosphamide (Euro-Lupus regimen) along with continuous glucose monitoring system. After completing her six cycles of cyclophosphamide, she no longer required insulin treatment. The goal of therapy for our patient with confirmed type B insulin resistance was to manage hyperglycaemia with high doses of insulin until autoantibodies were eliminated with immunosuppressive therapy.

Diabetes Mellitus Tipo 2 , Resistência à Insulina , Lúpus Eritematoso Sistêmico , Adulto , Glicemia , Automonitorização da Glicemia , Região do Caribe , Ciclofosfamida/uso terapêutico , Feminino , Humanos , Imunossupressores/uso terapêutico , Lúpus Eritematoso Sistêmico/complicações , Lúpus Eritematoso Sistêmico/diagnóstico , Lúpus Eritematoso Sistêmico/tratamento farmacológico
BMJ Case Rep ; 14(5)2021 May 24.
Artigo em Inglês | MEDLINE | ID: mdl-34031067


We report a case of severe hypercalcaemia secondary to rhabdomyolysis in a woman with COVID-19 (SARS CoV-2) infection. The patient presented with myalgia and anuria with an acute kidney injury requiring haemodialysis. Creatine kinase peaked at 760 000 IU/L. A biphasic calcaemic response was observed with initial severe hypocalcaemia followed by severe, symptomatic hypercalcaemia, persistent despite haemodialysis. Control of the calcium levels was achieved by continuous haemofiltration.

Injúria Renal Aguda , COVID-19 , Rabdomiólise , Injúria Renal Aguda/etiologia , Injúria Renal Aguda/terapia , Cálcio , Feminino , Homeostase , Humanos , Rabdomiólise/etiologia , SARS-CoV-2
Clin Lab ; 65(9)2019 Sep 01.
Artigo em Inglês | MEDLINE | ID: mdl-31532090


BACKGROUND: Multiplex bead assays, also known as addressable laser bead immunoassays (ALBIA) or Luminex® technology, have provided an alternative to enzyme-linked immunoassay, which is still the most widely utilized routine immunoassay for detection of specific autoantibodies. Our laboratory adopted the ALBIA technology early into its routine service. METHODS: We report the performance and utility of measurement of three different autoantibody types tested using the FIDIS (BMD, Marne La Vallee, France) ALBIA system. The analytes discussed are thyroid antibodies (thyroglobulin [TG], thyroid peroxidase [TPO]), anti-neutrophil cytoplasmic antibodies (ANCA), and ribonucleo-protein (RNP) antibodies. RESULTS: In single antibody analysis, TPO antibody testing was superior to TG antibody in identifying patients with Graves' disease and Hashimoto's thyroiditis. However, testing only TPO antibody would result in missing 8.6% of Graves' and 11.9% of Hashimoto's thyroiditis patients, hence demonstrating an advantage for the multiplex TG plus TPO assay. With respect to ANCA, the FIDIS ALBIA produced an overall similar level of performance to our comparator method, the Phadia fluorescent enzyme linked immunoassay. Sensitivity of the ALBIA for RNP antibodies was low in comparison to countercurrent immunoelectrophoresis, but performance was improved by altering the cutoff value for the assay. CONCLUSIONS: ALBIA technology has many potential advantages in the routine laboratory, but as with any new assay, evaluation must be thorough and ongoing to ensure satisfactory clinical performance is obtained. Both false positive and false negative results have been reported in ALBIA studies. It may be necessary to re-evaluate assay performance and cutoff and consider further clinical correlation.

Anticorpos Anticitoplasma de Neutrófilos/análise , Autoanticorpos/análise , Imunoensaio/métodos , Iodeto Peroxidase/imunologia , Ribonucleoproteínas/imunologia , Adulto , Anticorpos Anticitoplasma de Neutrófilos/imunologia , Anticorpos Antinucleares/análise , Anticorpos Antinucleares/imunologia , Autoanticorpos/imunologia , Testes Diagnósticos de Rotina/métodos , Feminino , Humanos , Técnicas Imunológicas/métodos , Masculino , Pessoa de Meia-Idade , Reprodutibilidade dos Testes
BMJ Open ; 9(6): e030356, 2019 06 16.
Artigo em Inglês | MEDLINE | ID: mdl-31209097


INTRODUCTION: Severe hypoglycaemia (SH), when blood glucose falls too low to support brain function, is the most feared acute complication of insulin therapy for type 1 diabetes mellitus (T1DM). 10% of people with T1DM contribute nearly 70% of all episodes, with impaired awareness of hypoglycaemia (IAH) a major risk factor. People with IAH may be refractory to conventional approaches to reduce SH, with evidence for cognitive barriers to hypoglycaemia avoidance. This paper describes the protocol for the Hypoglycaemia Awareness Restoration Programme for People with Type 1 Diabetes and Problematic Hypoglycaemia Persisting Despite Optimised Self-care (HARPdoc) study, a trial to assess the impact on hypoglycaemia experience of a novel intervention that addresses cognitive barriers to hypoglycaemia avoidance, compared with an existing control intervention, recommended by the National Institute of Health and Care Excellence. METHODS AND ANALYSIS: A randomised parallel two-arm trial of two group therapies: HARPdoc versus Blood Glucose Awareness Training, among 96 adults with T1DM and problematic hypoglycaemia, despite attendance at education with or without technology use, in four centres providing specialist T1DM services. The primary outcome will be the SH rate at 12 and/or 24 months after randomisation to either course. Secondary outcomes include rates of SH requiring parenteral therapy, involving unconsciousness or needing emergency services; hypoglycaemia awareness status, overall diabetes control and quality of life measures. An implementation study to evaluate how the interventions are delivered and how implementation impacts on clinical effectiveness is planned as a parallel study, with its own protocol. ETHICS AND DISSEMINATION: The protocol was approved by the London Dulwich Research Ethics Committee, the Health Research Authority, National Health Service R&D and the Institutional Review Board of the Joslin Diabetes Center in the USA. Study findings will be disseminated to study participants and through peer-reviewed publications and conference presentations, including user groups. TRIAL REGISTRATION NUMBER: NCY02940873; Pre-results.

Automonitorização da Glicemia , Diabetes Mellitus Tipo 1/tratamento farmacológico , Conhecimentos, Atitudes e Prática em Saúde , Hipoglicemia/induzido quimicamente , Hipoglicemia/diagnóstico , Insulina/efeitos adversos , Educação de Pacientes como Assunto , Ensaios Clínicos Controlados Aleatórios como Assunto , Humanos , Hipoglicemia/prevenção & controle , Insulina/uso terapêutico , Educação de Pacientes como Assunto/métodos , Índice de Gravidade de Doença , Falha de Tratamento
J Diabetes Investig ; 7(3): 332-7, 2016 May.
Artigo em Inglês | MEDLINE | ID: mdl-27330718


AIMS/INTRODUCTION: Monogenic diabetes accounts for approximately 1-2% of all diabetes, and is difficult to distinguish from type 1 and type 2 diabetes. Molecular diagnosis is important, as the molecular subtype directs appropriate treatment. Patients are selected for testing according to clinical criteria, but up to 80% of monogenic diabetes in the UK has not been correctly diagnosed. We investigated outcomes of genetic testing in our center to compare methods of selecting patients, and consider avenues to increase diagnostic efficiency. MATERIALS AND METHODS: We reviewed 36 probands tested for monogenic diabetes in the last 10 years in a large adult diabetes outpatient clinic, serving an ethnically diverse urban population. We compared published clinical criteria and an online maturity onset diabetes of the young calculator applied to these 36 patients, and presented the predictions together with the molecular results. RESULTS: The overall mutation detection rate was 42%, reflecting the strict clinical selection process applied before genetic testing. Both methods had high sensitivity for identifying patients with mutations: 88 and 89% for the clinical criteria and online calculator, respectively. Cascade testing in a total of 16 relatives led to diagnosis of a further 13 cases. CONCLUSIONS: Existing patient selection criteria were effective in identifying patients with monogenic forms of diabetes, but the number of patients missed using these strict criteria is unknown. Because of the potential savings resulting from correct molecular diagnosis, it is possible that testing a larger pool of patients using less stringent selection criteria would be cost-effective. Further evidence is required to inform this assessment.

Diabetes Mellitus/diagnóstico , Diabetes Mellitus/genética , Testes Genéticos , Adolescente , Adulto , Idoso , Feminino , Predisposição Genética para Doença , Humanos , Masculino , Pessoa de Meia-Idade , Técnicas de Diagnóstico Molecular , Mutação , Adulto Jovem