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1.
Atherosclerosis ; 325: 38-45, 2021 05.
Artigo em Inglês | MEDLINE | ID: mdl-33892327

RESUMO

BACKGROUND AND AIMS: We aimed to validate a nurse-led process using electronic health records to identify those at risk of familial hypercholesterolaemia (FH) for genetic diagnosis in primary care. METHODS: Those at risk of FH were identified using searches developed and refined locally and implemented in primary care by a trained nurse; they were invited for further assessment and genetic testing if indicated. Family members at risk of FH were identified and invited for cascade testing. RESULTS: In total 94,444 patient records were screened (expected prevalence of FH (1 in 250); 377). Of 176 records which already had a diagnostic for FH, 15 had been genetically confirmed and one was undergoing DNA testing. A further 572 (0.61%) were identified as high risk of FH. After desktop screening, 113 (15%) were invited for further assessment. Of these, 73 individuals attended the primary care clinic (64%) of whom 61 (54%) underwent proband genetic testing. Pathogenic variants were detected in 22 cases (36%) and variants of unknown significance in a further 4 cases; a total of 26 probands (43%) were therefore referred for family cascade testing. CONCLUSIONS: An optimised FH identification pathway, based on the NICE CG71 recommendations for systematic searching of primary care electronic health records, can be deployed successfully in primary care settings.


Assuntos
Hiperlipoproteinemia Tipo II , Medicina Estatal , Testes Genéticos , Humanos , Hiperlipoproteinemia Tipo II/diagnóstico , Hiperlipoproteinemia Tipo II/epidemiologia , Hiperlipoproteinemia Tipo II/genética , Programas de Rastreamento , Atenção Primária à Saúde
2.
Ophthalmol Ther ; 6(1): 105-114, 2017 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-27858333

RESUMO

INTRODUCTION: Diabetic retinopathy is a leading cause of blindness in adults of working age. Patients with sight-threatening diabetic retinopathy (STDR) often have poor control of modifiable risk factors, including blood pressure and blood glucose. Patients in our eye department with STDR whose diabetes was managed only by their general practitioner (GP) were referred to a diabetes specialist. We have reviewed these referrals and assessed the control of modifiable risk factors in these patients at the time of referral. METHODS: A retrospective study was performed which identified 54 patients with STDR who had been referred from our eye department to a diabetes specialist between May 2013 and August 2014. Patient demographics, grades of retinopathy, glycated hemoglobin (HbA1c) levels, blood pressure, and lipid profiles were noted from the initial clinic visit and the first clinic appointment after 12 months. Initial management and any subsequent changes to management were recorded. RESULTS: Of the 54 patients initially referred to the dedicated diabetic retinopathy clinic, data from 32 patients were available for analysis; 22 patients failed to attend the clinic. The majority of patients who presented to the clinic were found to have inadequate control of modifiable risk factors. At the initial clinic visit, nine of the 32 (28%) patients had a blood pressure that was less than the target of 130/80 mmHg and only two (6%) had a HbA1c level of less than the target of 48 mmol/L for type 2 diabetes and 58 mmol/L for type 1 diabetes, respectively. Changes were made to the management in 24 (75%) of the patients. Blood pressure management was changed in 18 (56%) patients. Overall, changes were made to blood pressure management and lipid and glycemic medication, including insulin. CONCLUSION: The majority of patients with STDR were receiving suboptimal medical management. Collaboration between GPs, diabetes specialists, and ophthalmologists can lead to optimized medical management. All eye departments should develop protocols specifying when patients with diabetic retinopathy should be referred for to a diabetes specialist for input.

3.
Ophthalmol Ther ; 5(2): 175-182, 2016 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-27339266

RESUMO

INTRODUCTION: Asymptomatic retinal emboli have been associated with diabetes, the presence of significant carotid artery stenosis (≥70%) and an increased risk of stroke. However, there is no clear guidance on how best to investigate and manage patients found to have asymptomatic retinal emboli. Therefore, this study aimed to assess the incidence of significant carotid artery stenosis in patients found to have asymptomatic retinal emboli at diabetic retinopathy screening, and to examine disease management approaches among these patients. METHODS: Patients with new retinal emboli visible at diabetic retinopathy screening were referred to a medical retinopathy clinic and underwent examinations according to a standardized protocol, including carotid Doppler ultrasound and echocardiography. Case notes of patients referred between January 2013 and April 2014 were reviewed. Results of investigations, medication changes and the number of patients who underwent relevant surgical interventions were noted. RESULTS: Retinal emboli were present in 44 of 13,643 people screened (0.32%). Full data were available for 39 patients. Twenty-two patients (56%) had relevant medication changes. Nine (23%) patients had significant carotid artery stenosis. One underwent carotid endarterectomy, and eight received maximal medical therapy. CONCLUSION: Significant carotid artery stenosis was not uncommon in patients with incident retinal emboli at retinal screening. The referral and investigation protocols identified individuals at risk of cerebrovascular events and led to optimized management. Pathways utilizing Doppler ultrasound and physician referral should be more widely implemented.

4.
Am J Physiol Endocrinol Metab ; 289(6): E941-7, 2005 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-15998660

RESUMO

To test the hypothesis that intrahepatic availability of fatty acid could modify the rate of suppression of endogenous glucose production (EGP), acipimox or placebo was administered before and during a test meal. We used a modified isotopic methodology to measure EGP in 11 healthy subjects, and (1)H magnetic resonance spectroscopic measurement of hepatic triglyceride stores was also undertaken. Acipimox suppressed plasma free fatty acids markedly before the meal (0.05 +/- 0.01 mmol/l at -10 min, P = 0) and throughout the postprandial period (0.03 +/- 0.01 mmol/l at 150 min). Mean peak plasma glucose was significantly lower after the meal on acipimox days (8.9 +/- 0.4 vs. 10.1 +/- 0.5 mmol/l, P < 0.01), as was mean peak serum insulin (653.1 +/- 99.9 vs. 909 +/- 118 pmol/l, P < 0.01). Fasting EGP was similar (11.15 +/- 0.58 micromol.kg(-1).min(-1) placebo vs. 11.17 +/- 0.89 mg.kg(-1).min(-1) acipimox). The rate of suppression of EGP after the meal was almost identical on the 2 test days (4.36 +/- 1.52 vs. 3.69 +/- 1.21 micromol.kg(-1).min(-1) at 40 min). There was a significant negative correlation between the acipimox-induced decrease in peak plasma glucose and liver triglyceride content (r = -0.827, P = 0.002), suggesting that, when levels of liver fat were low, inhibition of lipolysis was able to affect glucose homeostasis. Acute pharmacological sequestration of fatty acids in triglyceride stores improves postprandial glucose homeostasis without effect on the immediate postprandial suppression of EGP.


Assuntos
Alimentos , Glucose/biossíntese , Lipólise/efeitos dos fármacos , Pirazinas/farmacologia , Adulto , Glicemia/análise , Peptídeo C/sangue , Ácidos Graxos não Esterificados/sangue , Feminino , Glucagon/sangue , Glicerol/sangue , Humanos , Hipolipemiantes/farmacologia , Insulina/sangue , Cinética , Fígado/química , Espectroscopia de Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Oxirredução , Placebos , Triglicerídeos/análise , Triglicerídeos/sangue
5.
Am J Physiol Endocrinol Metab ; 283(2): E275-83, 2002 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-12110532

RESUMO

The extent and time course of suppression of endogenous glucose production (EGP) in type 2 diabetes after a mixed meal have been determined using a new tracer methodology. Groups of age-, sex-, and weight-matched normal controls (n = 8) and diet-controlled type 2 diabetic subjects (n = 8) were studied after ingesting a standard mixed meal (550 kcal; 67% carbohydrate, 19% fat, 14% protein). There was an early insulin increment in both groups such that, by 20 min, plasma insulin levels were 266 +/- 54 and 190 +/- 53 pmol/l, respectively. EGP was similar basally [2.55 +/- 0.12 mg x kg(-1) x min(-1) in control subjects vs. 2.92 +/- 0.16 mg x kg(-1) x min(-1) in the patients (P = 0.09)]. After glucose ingestion, EGP declined rapidly in both groups to approximately 50% of basal within 30 min of the meal. Despite the initial rapid decrease, the EGP was significantly greater in the diabetic group at 60 min (1.75 +/- 0.12 vs. 1.05 +/- 0.14 mg x kg(-1) x min(-1); P < 0.01) and did not reach nadir until 210 min (0.96 +/- 0.17 mg x kg(-1) x min(-1)). Between 60 and 240 min, EGP was 47% higher in the diabetic group (0.89 +/- 0.09 vs. 1.31 +/- 0.13 mg x kg(-1) x min(-1), P < 0.02). These data quantitate the initial rapid suppression of EGP after a mixed meal in type 2 diabetes and the contribution of continuing excess glucose production to subsequent hyperglycemia.


Assuntos
Diabetes Mellitus Tipo 2/metabolismo , Alimentos , Glucose/biossíntese , Período Pós-Prandial , Glicemia/análise , Carboidratos da Dieta/administração & dosagem , Proteínas Alimentares/administração & dosagem , Ácidos Graxos não Esterificados/sangue , Feminino , Glucose/metabolismo , Glicosúria/urina , Humanos , Masculino , Pessoa de Meia-Idade , Oxirredução
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