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1.
Clin Lab ; 70(4)2024 Apr 01.
Artigo em Inglês | MEDLINE | ID: mdl-38623669

RESUMO

BACKGROUND: We aimed to evaluate the diagnostic capabilities of Chinese laboratories for inherited metabolic disorders (IMDs) using gas chromatography-mass spectrometry (GC-MS) on urine samples. Meanwhile, based on the result of the pilot external quality assessment (EQA) scheme, we hope to establish a standardized and reliable procedure for future EQA practice. METHODS: We recruited laboratories that participated in the EQA of quantitative analysis of urinary organic acids with GC-MS before joining the surveys. In each survey, a set of five real urine samples was distributed to each participant. The participants should analyze the sample by GC-MS and report the "analytical result", "the most likely diagnosis", and "recommendation for further tests" to the NCCL before the deadline. RESULTS: A total of 21 laboratories participated in the scheme. The pass rates were 94.4% in 2020 and 89.5% in 2021. For all eight IMDs tested, the analytical proficiency rates ranged from 84.7% - 100%, and the interpretational performance rate ranged from 88.2% - 97.0%. The performance on hyperphenylalaninemia (HPA), 3-methylcrotonyl-CoA carboxylase deficiency (MCCD), and ethylmalonic encephalopathy (EE) samples were not satisfactory. CONCLUSIONS: In general, the participants of this pilot EQA scheme are equipped with the basic capability for qualitative organic acid analysis and interpretation of the results. Limited by the small size of laboratories and samples involved, this activity could not fully reflect the state of clinical practice of Chinese laboratories. NCCL will improve the EQA scheme and implement more EQA activities in the future.


Assuntos
Doenças Metabólicas , Fenilcetonúrias , Humanos , Controle de Qualidade , Laboratórios , Doenças Metabólicas/diagnóstico , China , Garantia da Qualidade dos Cuidados de Saúde
2.
Sensors (Basel) ; 23(10)2023 May 17.
Artigo em Inglês | MEDLINE | ID: mdl-37430748

RESUMO

Bone age assessment (BAA) is a typical clinical technique for diagnosing endocrine and metabolic diseases in children's development. Existing deep learning-based automatic BAA models are trained on the Radiological Society of North America dataset (RSNA) from Western populations. However, due to the difference in developmental process and BAA standards between Eastern and Western children, these models cannot be applied to bone age prediction in Eastern populations. To address this issue, this paper collects a bone age dataset based on the East Asian populations for model training. Nevertheless, it is laborious and difficult to obtain enough X-ray images with accurate labels. In this paper, we employ ambiguous labels from radiology reports and transform them into Gaussian distribution labels of different amplitudes. Furthermore, we propose multi-branch attention learning with ambiguous labels network (MAAL-Net). MAAL-Net consists of a hand object location module and an attention part extraction module to discover the informative regions of interest (ROIs) based only on image-level labels. Extensive experiments on both the RSNA dataset and the China Bone Age (CNBA) dataset demonstrate that our method achieves competitive results with the state-of-the-arts, and performs on par with experienced physicians in children's BAA tasks.


Assuntos
Osso e Ossos , População do Leste Asiático , Doenças do Sistema Endócrino , Doenças Metabólicas , Criança , Humanos , China , Distribuição Normal , Osso e Ossos/diagnóstico por imagem , Doenças Metabólicas/diagnóstico , Doenças do Sistema Endócrino/diagnóstico
3.
J Med Screen ; 29(1): 12-20, 2022 03.
Artigo em Inglês | MEDLINE | ID: mdl-34102920

RESUMO

OBJECTIVES: Few studies in China have focused on the economic evaluation of newborn screening (NBS) for inherited metabolic disorders (IMDs) by tandem mass spectrometry (MS/MS). This study assesses the total costs, benefits, benefit-cost ratio (BCR), cost-utility ratio (CUR) and incremental cost-utility ratio (ICUR) of NBS using MS/MS compared to the non-screened group. METHODS: The NBS outcomes of newborns who underwent MS/MS screening for IMDs in 2009-2018 were retrospectively reviewed. Records were extracted from a screening management system at the NBS Center of Zhejiang province. A cost-benefit analysis of screening was conducted, assessing screening costs for each subject, and direct and indirect treatment costs for IMDs detected by screening. The putative benefit of clinical outcomes related to early diagnosis was assumed to be improvement in quality of life and prolonged life expectancy in the screened group, as compared to the non-screened group. RESULTS: Of the 3,040,815 newborns screened, 735 (2.86%) cases were diagnosed through gene sequence analysis. The most frequently occurring types of IMD were amino acid disorders (n = 276), then fatty acid oxidation disorders (n = 248), followed by organic acidaemias (n = 211). The difference in quality-adjusted life-years (QALYs) ranged from 0.78 to 15.4 in the screened group. The CUR was CNY¥ 116,183.89/QALY in the screened group and CNY¥ 3,078,823.65/QALY in the non-screened group. The ICUR was CNY¥ -768,428.76/QALY, and the BCR was 6.09. CONCLUSIONS: NBS using MS/MS can be considered cost-effective in China. The nationwide promotion of NBS using MS/MS deserves priority consideration and sufficient publicity.


Assuntos
Erros Inatos do Metabolismo dos Aminoácidos , Doenças Metabólicas , China , Análise Custo-Benefício , Humanos , Recém-Nascido , Doenças Metabólicas/diagnóstico , Doenças Metabólicas/genética , Triagem Neonatal/métodos , Qualidade de Vida , Anos de Vida Ajustados por Qualidade de Vida , Estudos Retrospectivos , Espectrometria de Massas em Tandem
4.
BMC Cardiovasc Disord ; 21(1): 322, 2021 06 30.
Artigo em Inglês | MEDLINE | ID: mdl-34193034

RESUMO

BACKGROUND: The risk of cardiovascular diseases (CVDs) is becoming more prevalent in pregnant women though not much data is available for pregnant women with human immunodeficiency virus (HIV). Foetoplacental vascular endothelial dysfunction is thought to be at the origin of chronic diseases such as diabetes and obesity later on in life. Because HIV and anti-retroviral treatment (ARTs) are associated with endothelial dysfunction, children exposed in utero to these conditions may be at greater risk of developing CVDs. Despite the high prevalence of HIV in pregnant South African women, little is known about the effects of ART on the cardiovascular health of the mother and offspring. Hence, the proposed study intends to investigate how HIV/ARTs may affect the cardiovascular health of the mother and offspring at different time points during the pregnancy and up to 2 years after birth. METHODS: A longitudinal case-control study in HIV positive pregnant women on ART and HIV negative pregnant women will be conducted. All pregnant women will be assessed for cardio-metabolic risk factors and markers (lipids, anthropometric and glycaemic indies, oxidative stress), hemodynamic status (blood pressure parameters) and vascular function (arterial compliance, retinal microvasculature, uterine artery mean pulsatility index). Child health will be monitored in utero and postnatally via routine foetal health screening, placental integrity, anthropometry, blood pressure parameters, markers of oxidative stress and endothelial function in cord blood and cardiovascular epigenetic markers in urine. DISCUSSION: There is a paucity of studies in South Africa and sub-Sahara Africa as a whole that utilised a longitudinal study model to assess the effects of ARTs on vascular endothelial changes in pregnant women living with HIV and the cardiometabolic health of their offspring. This study will therefore help to monitor changes in cardiometabolic risk during pregnancy and in children exposed in utero to HIV-infection and ART use. Findings from this study will provide useful information for developing guidelines on the use of ARTs in pregnancy and management of cardiometabolic health of the offspring of HIV positive mothers.


Assuntos
Fármacos Anti-HIV/uso terapêutico , Doenças Cardiovasculares/epidemiologia , Infecções por HIV/tratamento farmacológico , Saúde do Lactente , Saúde Materna , Doenças Metabólicas/epidemiologia , Complicações Infecciosas na Gravidez/tratamento farmacológico , Projetos de Pesquisa , Fármacos Anti-HIV/efeitos adversos , Fatores de Risco Cardiometabólico , Doenças Cardiovasculares/diagnóstico , Estudos de Casos e Controles , Pré-Escolar , Feminino , Infecções por HIV/diagnóstico , Infecções por HIV/virologia , Nível de Saúde , Humanos , Lactente , Recém-Nascido , Estudos Longitudinais , Doenças Metabólicas/diagnóstico , Gravidez , Complicações Infecciosas na Gravidez/diagnóstico , Complicações Infecciosas na Gravidez/epidemiologia , Complicações Infecciosas na Gravidez/virologia , Estudos Prospectivos , Medição de Risco , África do Sul/epidemiologia , Fatores de Tempo , Resultado do Tratamento
5.
Prim Care Diabetes ; 15(4): 653-681, 2021 08.
Artigo em Inglês | MEDLINE | ID: mdl-34083122

RESUMO

BACKGROUND: The Coronavirus disease 2019 (COVID-19) pandemic has led to a dramatic crisis in health care systems worldwide. These may have significant implications for the management of cardiometabolic diseases. We conducted a systematic review of published evidence to assess the indirect impact of the COVID-19 pandemic on hospitalisations for cardiovascular diseases and their management. METHODS: Studies that evaluated volume of hospitalisations for cardiometabolic conditions and their management with comparisons between the COVID-19 and pre-COVID periods were identified from MEDLINE, Embase and the reference list of relevant studies from January 2020 to 25 February 2021. RESULTS: We identified 103 observational studies, with most studies assessing hospitalisations for acute cardiovascular conditions such as acute coronary syndrome, ischemic strokes and heart failure. About 89% of studies reported a decline in hospitalisations during the pandemic compared to pre-pandemic times, with reductions ranging from 20.2 to 73%. Severe presentation, less utilization of cardiovascular procedures, and longer patient- and healthcare-related delays were common during the pandemic. Most studies reported shorter length of hospital stay during the pandemic than before the pandemic (1-8 vs 2-12 days) or no difference in length of stay. Most studies reported no change in in-hospital mortality among hospitalised patients. CONCLUSION: Clinical care of patients for acute cardiovascular conditions, their management and outcomes have been adversely impacted by the COVID-19 pandemic. Patients should be educated via population-wide approaches on the need for timely medical contact and health systems should put strategies in place to provide timely care to patients at high risk. SYSTEMATIC REVIEW REGISTRATION: PROSPERO 2021: CRD42021236102.


Assuntos
COVID-19 , Doenças Cardiovasculares/terapia , Acessibilidade aos Serviços de Saúde/tendências , Hospitalização/tendências , Doenças Metabólicas/terapia , Doenças Cardiovasculares/diagnóstico , Doenças Cardiovasculares/mortalidade , Mortalidade Hospitalar/tendências , Humanos , Doenças Metabólicas/diagnóstico , Doenças Metabólicas/mortalidade , Estudos Observacionais como Assunto , Prognóstico , Índice de Gravidade de Doença , Fatores de Tempo
6.
Pediatrics ; 147(2)2021 02.
Artigo em Inglês | MEDLINE | ID: mdl-33479165

RESUMO

BACKGROUND AND OBJECTIVES: The Child Opportunity Index (ChOI) is a publicly available surveillance tool that incorporates traditional and novel attributes of neighborhood conditions that may promote or inhibit healthy child development. The extent to which ChOI relates to individual-level cardiometabolic risk remains unclear. METHODS: We geocoded residential addresses obtained from 743 participants in midchildhood (mean age 7.9 years) in Project Viva, a prebirth cohort from eastern Massachusetts, and linked each location with census tract-level ChOI data. We measured adiposity and cardiometabolic outcomes in midchildhood and early adolescence (mean age 13.1 years) and analyzed their associations with neighborhood-level ChOI in midchildhood using mixed-effects models, adjusting for individual and family sociodemographics. RESULTS: On the basis of nationwide distributions of ChOI, 11.2% (n = 83) of children resided in areas of very low overall opportunity (ChOI score <20 U) and 55.3% (n = 411) resided in areas of very high (ChOI score ≥80 U) overall opportunity. Children who resided in areas with higher overall opportunity in midchildhood had persistently lower levels of C-reactive protein from midchildhood to early adolescence (per 25-U increase in ChOI score: ß = .14 mg/L; 95% confidence interval, .28 to .00). Additionally, certain ChOI indicators, such as greater number of high-quality childhood education centers, greater access to healthy food, and greater proximity to employment in midchildhood, were associated with persistently lower adiposity, C-reactive protein levels, insulin resistance, and metabolic risk z scores from midchildhood to early adolescence. CONCLUSIONS: Our findings suggest more favorable neighborhood opportunities in midchildhood predict better cardiometabolic health from midchildhood to early adolescence.


Assuntos
Doenças Cardiovasculares/epidemiologia , Planejamento Ambiental/tendências , Doenças Metabólicas/epidemiologia , Vigilância da População/métodos , Características de Residência , Fatores Socioeconômicos , Adiposidade/fisiologia , Adolescente , Doenças Cardiovasculares/diagnóstico , Doenças Cardiovasculares/prevenção & controle , Criança , Escolaridade , Planejamento Ambiental/economia , Feminino , Humanos , Masculino , Massachusetts/epidemiologia , Doenças Metabólicas/diagnóstico , Doenças Metabólicas/prevenção & controle , Fatores de Risco
8.
Cell ; 181(6): 1189-1193, 2020 06 11.
Artigo em Inglês | MEDLINE | ID: mdl-32442404
9.
J Gerontol B Psychol Sci Soc Sci ; 75(9): 1937-1950, 2020 10 16.
Artigo em Inglês | MEDLINE | ID: mdl-31127845

RESUMO

OBJECTIVES: This paper investigates Black-White differences in stress-including diverse measures of chronic, acute, discrimination-related, and cumulative stress exposure-and examines whether race differences in these stress measures mediate Black-White disparities in C-reactive protein (CRP) and metabolic dysregulation in later life. METHODS: Using data from the Health and Retirement Study (HRS) (2004-2012), this study uses stepwise ordinary least squares (OLS) regression models to examine the prospective associations between multiple stressors-including traumatic and stressful life events, financial strain, chronic stress, everyday and major life discrimination, and measures of cumulative stress burden-and CRP and metabolic dysregulation. Mediation analyses assessed the contribution of stress exposure to Black-White disparities in the outcomes. RESULTS: Blacks experienced more stress than Whites across domains of stress, and stress exposure was strongly associated with CRP and metabolic dysregulation. Race differences in financial strain, everyday and major life discrimination, and cumulative stress burden mediated Black-White gaps in the outcomes, with measures of cumulative stress burden mediating the greatest proportion of the racial disparities. DISCUSSION: The "thousand cuts" that Blacks experience from their cumulative stress exposure across domains of social life throughout the life course accelerate their physiological deterioration relative to Whites and play a critical role in racial health disparities at older ages.


Assuntos
População Negra , Estado Funcional , Doenças Metabólicas , Racismo , Estresse Psicológico , População Branca , Idoso , População Negra/psicologia , População Negra/estatística & dados numéricos , Proteína C-Reativa/análise , Comparação Transcultural , Feminino , Estresse Financeiro/etnologia , Estresse Financeiro/psicologia , Disparidades nos Níveis de Saúde , Humanos , Acontecimentos que Mudam a Vida , Masculino , Doenças Metabólicas/sangue , Doenças Metabólicas/diagnóstico , Doenças Metabólicas/etnologia , Doenças Metabólicas/psicologia , Racismo/etnologia , Racismo/prevenção & controle , Racismo/psicologia , Determinantes Sociais da Saúde/etnologia , Estresse Psicológico/etnologia , Estresse Psicológico/metabolismo , Estados Unidos/epidemiologia , População Branca/psicologia , População Branca/estatística & dados numéricos
10.
J Dev Orig Health Dis ; 10(6): 608-615, 2019 12.
Artigo em Inglês | MEDLINE | ID: mdl-31130151

RESUMO

Early-life chronic exposure to environmental contaminants, such as bisphenol-A, particulate matter air pollution, organophosphorus pesticides, and pharmaceutical drugs, among others, may affect central tissues, such as the hypothalamus, and peripheral tissues, such as the endocrine pancreas, causing inflammation and apoptosis with severe implications to the metabolism. The Developmental Origins of Health and Disease (DOHaD) concept articulates events in developmental phases of life, such as intrauterine, lactation, and adolescence, to later-life metabolism and health. These developmental phases are more susceptible to environmental changes, such as those caused by environmental contaminants, which may predispose individuals to obesity, metabolic syndrome, and chronic noncommunicable diseases later in life. Alterations in the epigenome are explored as an underlying mechanism to the programming effects on metabolism, as the expression of key genes related with central and peripheral metabolic functions may be altered in response to environmental disturbances. Studies show that environmental contaminants may affect gene expressions in mammals, especially when exposed to during the developmental phases of life, leading to metabolic disorders in adulthood. In this review, we discuss the current obesity epidemics, the DOHaD concept, pollutants' toxicology, environmental control, and the role of environmental contaminants in the central and peripheral programming of obesity and metabolic syndrome. Improving environmental monitoring may directly affect the quality of life of the population and help protect the future generations from metabolic diseases.


Assuntos
Exposição Ambiental/efeitos adversos , Monitoramento Ambiental/métodos , Doenças Metabólicas/diagnóstico , Doenças Metabólicas/etiologia , Obesidade/complicações , Efeitos Tardios da Exposição Pré-Natal/diagnóstico , Efeitos Tardios da Exposição Pré-Natal/etiologia , Animais , Feminino , Humanos , Gravidez
11.
J Pediatr Endocrinol Metab ; 32(2): 135-142, 2019 Feb 25.
Artigo em Inglês | MEDLINE | ID: mdl-30685743

RESUMO

Background To develop a diagnostic assessment tool, using clinical, biochemical and sonographic markers, to help clinicians in the differential diagnosis of functional oligomenorrhea (FO) and endocrine-metabolic oligomenorrhea (EMO). Methods Sixty-two adolescents with oligomenorrhea without evident hormonal imbalances or severe energy deficit were selected. They were divided into two groups (EMO and FO) and they all underwent the following assessment: physical examination (height, weight, presence of hirsutism or acne), blood exams and transabdominal ultrasonography. The biochemical markers included: hemoglobin, thyrotropin stimulating hormone (TSH), prolactin (PRL), follicle stimulating hormone (FSH), luteinizing hormone (LH), free (FT) and total testosterone (TT), androstenedione (A), dehydroepiandrosterone sulfate (DHEAS) and sex hormone binding globulin (SHBG). Uterine and ovarian volume, ovarian morphology, endometrial thickness and pulsatility index (PI) of uterine arteries were evaluated with ultrasound. Results Body mass index (BMI), hemoglobin, LH levels and LH/FSH ratio were significantly higher in women with EMO than in those with FO. Increased androgens values were found in the EMO group, but only A and FT were significantly different (p=0.04). Ovarian volume and uterine artery PI were the only ultrasound features significantly different, with higher values in the EMO population (p<0.05). Considering these variables, with a receiving characteristic operating curve, new cut-offs were calculated, and a diagnostic assessment tool elaborated (area under curve [AUC] 0.88, specificity 99%, sensibility 59%, p<0.001]. Conclusions This diagnostic tool, specific for adolescents, could be useful in the management of oligomenorrhea. Recognizing and distinguishing EMO and FO is very important in order to establish an appropriate treatment and a correct follow-up.


Assuntos
Biomarcadores/sangue , Doenças do Sistema Endócrino/diagnóstico , Hormônios Esteroides Gonadais/sangue , Doenças Metabólicas/diagnóstico , Oligomenorreia/diagnóstico , Adolescente , Diagnóstico Diferencial , Doenças do Sistema Endócrino/sangue , Feminino , Seguimentos , Humanos , Masculino , Doenças Metabólicas/sangue , Oligomenorreia/sangue , Prognóstico
13.
Diabetes Metab ; 45(4): 382-389, 2019 09.
Artigo em Inglês | MEDLINE | ID: mdl-30287275

RESUMO

AIMS: Mutations of the LMNA gene encoding lamin A/C induce heterogeneous phenotypes ranging from cardiopathies and myopathies to lipodystrophies. The aim of this study was to compare cardiometabolic complications in patients with heterozygous LMNA mutations at the 482nd codon, the 'hotspot' for partial lipodystrophy, with carriers of other, non-R482 LMNA mutations. METHODS AND RESULTS: This study included 29 patients with R482 LMNA mutations, 29 carriers of non-R482 LMNA mutation and 19 control subjects. Cardiac and metabolic phenotypes were compared between groups. A family history of either cardiac implantable electronic devices (CIEDs; P < 0.001) or sudden death (P < 0.01) was more frequent in non-R482 than R482 carriers. The non-R482 carriers also had more abnormalities on electrocardiography and received CIEDs more often than R482 carriers (P < 0.001). On cardiac ultrasound, non-R482 patients had greater frequencies of left atrial enlargement (P < 0.05) and lower left ventricular ejection fractions (P < 0.01) than R482 carriers. In contrast, R482 carriers had lower BMI (P < 0.05), leptin (P < 0.01) and fat mass (P < 0.001), but higher intra-/total abdominal fat-mass ratios (P < 0.001) and prevalences of diabetes (P < 0.01) and hypertriglyceridaemia (P < 0.05) than non-R482 carriers, with a trend towards more coronary artery disease. However, non-R482 carriers had higher intra-/total abdominal fat-mass ratios (P < 0.02) and prevalences of diabetes (P < 0.001) and hypertriglyceridaemia (P < 0.05) than the controls. CONCLUSION: Non-R482 carriers present more frequently with arrhythmias than R482 carriers, who twice as often have diabetes, suggesting that follow-up for laminopathies could be adjusted for genotype. Non-R482 mutations require ultra-specialized cardiac follow-up, and coronary artery disease should not be overlooked. Although overlapping phenotypes are found, LMNA mutations essentially lead to tissue-specific diseases, favouring genotype-specific pathophysiological mechanisms.


Assuntos
Doenças Cardiovasculares/genética , Lamina Tipo A/genética , Doenças Metabólicas/genética , Mutação , Adulto , Doenças Cardiovasculares/diagnóstico , Doenças Cardiovasculares/epidemiologia , Estudos de Casos e Controles , Análise Mutacional de DNA , Feminino , Frequência do Gene , Estudos de Associação Genética , Predisposição Genética para Doença , Genótipo , Heterozigoto , Humanos , Lipodistrofia/complicações , Lipodistrofia/diagnóstico , Lipodistrofia/epidemiologia , Lipodistrofia/genética , Lipodistrofia Parcial Familiar/complicações , Lipodistrofia Parcial Familiar/epidemiologia , Lipodistrofia Parcial Familiar/genética , Estudos Longitudinais , Masculino , Doenças Metabólicas/diagnóstico , Doenças Metabólicas/epidemiologia , Pessoa de Meia-Idade , Estudos Retrospectivos , Adulto Jovem
14.
J Clin Densitom ; 22(1): 125-149, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-28739080

RESUMO

Members of the College of Physicians and Surgeons of Ontario Endocrinology and Metabolism Peer Review Network have been involved in a quality improvement project to help standardize the peer assessment of physicians practicing in endocrinology and metabolism. This has included developing state-of-the-art summaries of common endocrine problems by Canadian experts in endocrinology and metabolism. These tools have been developed in response to the educational needs, as identified by peer reviewers, of practicing endocrinologists in Ontario. These pedagogical tools aim not only to standardize the documentation of the clinical performance of endocrinologists but also to make the process more transparent and to improve the quality of patient care in Ontario. This article summarizes the project and also provides the tools developed for the endocrinology and metabolism section of the College of Physicians and Surgeons of Ontario.


Assuntos
Cuidados Críticos/normas , Doenças do Sistema Endócrino , Endocrinologia/métodos , Doenças Metabólicas , Revisão por Pares/normas , Melhoria de Qualidade , Diagnóstico Diferencial , Doenças do Sistema Endócrino/diagnóstico , Doenças do Sistema Endócrino/terapia , Endocrinologia/normas , Humanos , Doenças Metabólicas/diagnóstico , Doenças Metabólicas/terapia
15.
Can J Psychiatry ; 63(4): 240-249, 2018 04.
Artigo em Inglês | MEDLINE | ID: mdl-29528720

RESUMO

OBJECTIVE: Children and adolescents with a range of psychiatric disorders are increasingly being prescribed atypical or second-generation antipsychotics (SGAs). While SGAs are effective at treating conduct and behavioural symptoms, they infer significant cardiometabolic risk. This study aims to explore what patient, treatment, and health care utilization variables are associated with adherence to Canadian Alliance for Monitoring Effectiveness and Safety of Antipsychotics in Children (CAMESA) metabolic monitoring guidelines. METHOD: A retrospective chart review of 294 children and adolescents accessing a large outpatient psychiatry setting within a 2-year study period (2014-2016) was conducted. Baseline and follow-up metabolic monitoring, demographic, treatment, and health care utilization variables were then assessed over a 1-year period of interest. RESULTS: Metabolic monitoring practices did not adhere to CAMESA guidelines and were very poor over the 1-year observation period. There were significant differences between children (ages 4-12 years, n = 99) and adolescents (ages 13-18 years, n = 195). In adolescents, factors associated with any baseline metabolic monitoring were a higher number of psychiatry visits (odds ratio [OR], 1.2; 95% confidence interval [CI], 1.10 to 1.41), longer duration of contact (OR, 14; 95% CI, 2.31 to 82.4), and use of other non-SGA medications (OR, 3.2; 95% CI, 1.17 to 8.94). Among children, having an emergency room visit (OR, 3.4; 95% CI, 1.01 to 11.71) and taking aripiprazole (OR, 7.4; 95% CI, 2.02 to 27.45) increased the odds of receiving baseline metabolic monitoring. CONCLUSION: Findings from this study highlight the need for better metabolic monitoring for children and adolescents taking SGAs. Enhanced focus on opportunities for multidisciplinary collaboration is needed to improve the quality of care offered to this population.


Assuntos
Antipsicóticos/efeitos adversos , Monitoramento de Medicamentos/estatística & dados numéricos , Efeitos Colaterais e Reações Adversas Relacionados a Medicamentos/metabolismo , Fidelidade a Diretrizes/estatística & dados numéricos , Transtornos Mentais/tratamento farmacológico , Doenças Metabólicas/induzido quimicamente , Doenças Metabólicas/diagnóstico , Aceitação pelo Paciente de Cuidados de Saúde/estatística & dados numéricos , Adolescente , Criança , Pré-Escolar , Feminino , Humanos , Masculino
16.
Int J Clin Pract ; 72(1)2018 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-29271548

RESUMO

INTRODUCTION: Polycystic ovarian syndrome (PCOS) is one of the commonest endocrine disorders affecting women of reproductive age. We examined the specific tests that are done in primary care to lead to the diagnosis of PCOS, and to support the diagnosis once made. METHODS: One thousand seven hundred and ninety-seven women were identified from a pooled GP practice database. The search included all patients defined with PCOS or related terms. Records included demographic information, medical history (diagnoses), blood test results and whether a pelvic ultrasound scan had been performed. RESULTS: The most common age of PCOS diagnosis was 20-29 years; 67.7% of the women had at least one concomitant Read-coded diagnosis. Most pelvic ultrasound scans were performed in the month immediately prior to diagnosis. In the 12 months prior to the diagnosis of PCOS being made, 30.5% of women underwent a measurement of their serum total testosterone level while 29.6% had their serum SHBG measured. For serum oestradiol, the corresponding statistics were 28.4%, LH 45.3% and for FSH 45.5% checked before diagnosis. Fasting blood glucose, random glucose and HbA1c were checked in 10.2%, 18.8% and 4.2%, of women before diagnosis, respectively, but in only 7.9%, 6.0% and 3.4% of women in the 24 months after diagnosis. There was a tendency for endocrine testing (oestradiol, LH, FSH, testosterone, SHBG) to peak in the weeks before diagnosis. For plasma glucose, testing was performed more evenly over time as for serum cholesterol. Of all women diagnosed with PCOS, 32.8% were prescribed metformin, 3.7% antihypertensives, 2.2% statins and 63.5% an oestrogen-containing contraceptive pill or HRT. CONCLUSION: The underlying pathophysiology of PCOS is still not fully understood. As a result, treatment is often focused on individual symptoms, not the syndrome itself. Robust laboratory led protocols would provide the necessary information to enable an appropriate diagnostic evaluation/cardometabolic monitoring.


Assuntos
Síndrome do Ovário Policístico/diagnóstico , Padrões de Prática Médica/estatística & dados numéricos , Atenção Primária à Saúde , Adolescente , Adulto , Idoso , Biomarcadores/sangue , Doenças Cardiovasculares/sangue , Doenças Cardiovasculares/diagnóstico , Doenças Cardiovasculares/etiologia , Criança , Quimioterapia Combinada , Feminino , Seguimentos , Humanos , Doenças Metabólicas/sangue , Doenças Metabólicas/diagnóstico , Doenças Metabólicas/etiologia , Pessoa de Meia-Idade , Síndrome do Ovário Policístico/sangue , Síndrome do Ovário Policístico/complicações , Síndrome do Ovário Policístico/tratamento farmacológico , Reino Unido , Adulto Jovem
17.
Diabetes Metab Syndr ; 12(2): 81-85, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-28869151

RESUMO

INTRODUCTION: Duchenne muscular dystrophy (DMD) is a severe muscular disease characterized by progressive loss of functional muscle mass followed by changes in body composition. AIM: To describe body composition, resting energy expenditure (REE), and metabolic disorders in DMD patients followed-up at a tertiary care center. To analyze the association with type of steroid and ambulatory status, and to compare obese DMD patients with patients with multifactorial obesity. POPULATION AND METHODS: A prospective, observational, cross-sectional study was conducted. Anthropometric measurements were taken, evaluating body composition with bioelectrical impedance analysis (BIA), REE with indirect calorimetry, and biochemical parameters in all DMD patients seen between June 2013 and April 2014. RESULTS: 63 boys between 5.4 and 18.7years of age were evaluated. Diagnosis of obesity ranged from 28% measuring body mass indexZ-score (BMIZ-score) to 70% using percentage of fat mass (%FM). Patients who had lost gait had a significantly higher %FM than those in whom gait was preserved (72% vs 46%, p<0.05). Insulin resistance was present in 29% associated with BMI Z-score and waist circumference and 40% had dyslipidemia associated with %FM, both of which were steroid independent. In obese DMD patients REE was lower than predicted and also lower than controls, and persist when dividing the patients into ambulators and non-ambulators. CONCLUSIONS: A high prevalence of obesity was observed. BMI-Z-score underestimates the degree of FM. No correlation was found between steroid type and body composition or metabolic disorders. No differences were found in REE between ambulators and non-ambulators. Obese DMD patients have a lower REE than controls.


Assuntos
Composição Corporal/fisiologia , Metabolismo Energético/fisiologia , Doenças Metabólicas/epidemiologia , Doenças Metabólicas/metabolismo , Distrofia Muscular de Duchenne/epidemiologia , Distrofia Muscular de Duchenne/metabolismo , Adolescente , Metabolismo Basal/fisiologia , Criança , Pré-Escolar , Estudos Transversais , Humanos , Masculino , Doenças Metabólicas/diagnóstico , Distrofia Muscular de Duchenne/diagnóstico , Obesidade/diagnóstico , Obesidade/epidemiologia , Obesidade/metabolismo , Prevalência , Estudos Prospectivos
18.
Adv Exp Med Biol ; 1043: 87-111, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-29224092

RESUMO

Leptin, the adipocyte-derived hormone identified in 1994 for its major role in the control of satiety and body weight regulation, is an adipokine secreted in a sex-specific manner. Although it has clearly been established that females secrete three to four times more leptin than males and that this sexual dimorphism in leptin secretion is exacerbated with overweight and obesity, the origin and the physiological consequences of this sexual dimorphism remain ill-defined. The adipose tissue is the major site of leptin secretion; however, leptin receptors are ubiquitously expressed, conferring to leptin, and indirectly to the adipose tissue, a potential role in the control of numerous physiological functions. Besides its major role in the control of food intake and energy expenditure, leptin has been shown to contribute to the control of immune, bone, reproductive, and cardiovascular functions. The goal of the present chapter is to review and discuss the current knowledge on the contribution of leptin to the control of cardiovascular function while focusing on the impact of the sexual dimorphism in leptin secretion and of the pathological increases in leptin levels induced by overweight and obesity.


Assuntos
Tecido Adiposo/metabolismo , Doenças Cardiovasculares/metabolismo , Sistema Cardiovascular/metabolismo , Leptina/sangue , Doenças Metabólicas/metabolismo , Obesidade/metabolismo , Tecido Adiposo/fisiopatologia , Animais , Biomarcadores/sangue , Doenças Cardiovasculares/diagnóstico , Doenças Cardiovasculares/epidemiologia , Doenças Cardiovasculares/fisiopatologia , Sistema Cardiovascular/fisiopatologia , Feminino , Disparidades nos Níveis de Saúde , Humanos , Masculino , Doenças Metabólicas/diagnóstico , Doenças Metabólicas/epidemiologia , Doenças Metabólicas/fisiopatologia , Obesidade/diagnóstico , Obesidade/epidemiologia , Obesidade/fisiopatologia , Fatores de Risco , Caracteres Sexuais , Fatores Sexuais
19.
Artigo em Inglês | MEDLINE | ID: mdl-28006091

RESUMO

BACKGROUND: Reverse colocation care models reduce lifestyle risk factors, emergency department visits, and readmissions. Persons with serious mental illness have higher than average rates of cardiovascular disease-related morbidity and mortality, with second-generation antipsychotics (SGAs) conferring added related risks. Little is written about reverse colocated medical care (RCL) in inpatient psychiatric settings. The objective of this study was to identify associations between screening, diagnosis, and treatment of chronic medical comorbidities and mode of medical care for patients discharged from 2 inpatient psychiatric units on SGAs. METHODS: This was a cross-sectional retrospective study of medical comorbidities identified and treated for adults consecutively admitted from January 1, 2015, to October 31, 2015, to 2 inpatient psychiatry units of an academic center and discharged on SGAs. One unit has a primary care team consisting of a physician assistant backed up by a medical doctor who provide medical care (RCL). The other unit has medical care provided by psychiatrists with hospitalists as needed (treatment as usual, TAU). We conducted a chart review of demographics, vital signs, laboratory values, diagnoses, and medications with comparative analysis of the evaluation, diagnosis, and treatment for hypertension, diabetes mellitus, hyperlipidemia, obesity, and tobacco use disorder. RESULTS: In total, 232 patients were discharged from the TAU group and 220 from the RCL group. Significantly more screening laboratory values (glucose, hemoglobin A1c, lipids) were obtained in the TAU group, while documented responses to abnormal tests were higher in the RCL group. Patients were more likely in the RCL group to be diagnosed with obesity, tobacco use disorder, and hyperlipidemia and to be treated for hypertension and hyperlipidemia. CONCLUSIONS: Reverse colocated medical care is effective in improving screening, diagnosis, and treatment of chronic medical diseases among psychiatric inpatients.​.


Assuntos
Cardiopatias/diagnóstico , Cardiopatias/terapia , Pacientes Internados , Transtornos Mentais/complicações , Doenças Metabólicas/diagnóstico , Doenças Metabólicas/terapia , Centros Médicos Acadêmicos , Adulto , Antipsicóticos/uso terapêutico , Doença Crônica , Comorbidade , Estudos Transversais , Feminino , Seguimentos , Cardiopatias/complicações , Hospitalização , Humanos , Masculino , Transtornos Mentais/diagnóstico , Transtornos Mentais/metabolismo , Transtornos Mentais/terapia , Equipe de Assistência ao Paciente , Estudos Retrospectivos , Resultado do Tratamento
20.
BMC Med ; 14(1): 189, 2016 Nov 22.
Artigo em Inglês | MEDLINE | ID: mdl-27871281

RESUMO

BACKGROUND: In people with psychosis, physical comorbidities, including cardiovascular and metabolic diseases, are highly prevalent and leading contributors to the premature mortality encountered. However, little is known about physical health multimorbidity in this population or in people with subclinical psychosis and in low- and middle-income countries (LMICs). This study explores physical health multimorbidity patterns among people with psychosis or subclinical psychosis. METHODS: Overall, data from 242,952 individuals from 48 LMICs, recruited via the World Health Survey, were included in this cross-sectional study. Participants were subdivided into those (1) with a lifetime diagnosis of psychosis ("psychosis"); (2) with more than one psychotic symptom in the past 12 months, but no lifetime diagnosis of psychosis ("subclinical psychosis"); and (3) without psychotic symptoms in the past 12 months or a lifetime diagnosis of psychosis ("controls"). Nine operationalized somatic disorders were examined: arthritis, angina pectoris, asthma, diabetes, chronic back pain, visual impairment, hearing problems, edentulism, and tuberculosis. The association between psychosis and multimorbidity was assessed by multivariable logistic regression analysis. RESULTS: The prevalence of multimorbidity (i.e., two or more physical health conditions) was: controls = 11.4% (95% CI, 11.0-11.8%); subclinical psychosis = 21.8% (95% CI, 20.6-23.0%), and psychosis = 36.0% (95% CI, 32.1-40.2%) (P < 0.0001). After adjustment for age, sex, education, country-wise wealth, and country, subclinical psychosis and psychosis were associated with 2.20 (95% CI, 2.02-2.39) and 4.05 (95% CI, 3.25-5.04) times higher odds for multimorbidity. Moreover, multimorbidity was increased in subclinical and established psychosis in all age ranges (18-44, 45-64, ≥ 65 years). However, multimorbidity was most evident in younger age groups, with people aged 18-44 years with psychosis at greatest odds of physical health multimorbidity (OR = 4.68; 95% CI, 3.46-6.32). CONCLUSIONS: This large multinational study demonstrates that physical health multimorbidity is increased across the psychosis-spectrum. Most notably, the association between multimorbidity and psychosis was stronger among younger adults, thus adding further impetus to the calls for the early intervention efforts to prevent the burden of physical health comorbidity at later stages. Urgent public health interventions are necessary not only for those with a psychosis diagnosis, but also for subclinical psychosis to address this considerable public health problem.


Assuntos
Doenças Cardiovasculares/epidemiologia , Saúde Global , Inquéritos Epidemiológicos , Doenças Metabólicas/epidemiologia , Pobreza , Transtornos Psicóticos/epidemiologia , Adolescente , Adulto , Idoso , Doenças Cardiovasculares/diagnóstico , Doenças Cardiovasculares/economia , Doença Crônica , Comorbidade , Estudos Transversais , Feminino , Saúde Global/economia , Inquéritos Epidemiológicos/métodos , Humanos , Internacionalidade , Masculino , Doenças Metabólicas/diagnóstico , Doenças Metabólicas/economia , Pessoa de Meia-Idade , Pobreza/economia , Prevalência , Análise de Componente Principal , Transtornos Psicóticos/diagnóstico , Transtornos Psicóticos/economia , Adulto Jovem
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