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1.
Eur J Endocrinol ; 184(4): 575-585, 2021 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-33606663

RESUMO

Objective: Transient neonatal diabetes mellitus (TNDM) is caused by activating mutations in ABCC8 and KCNJ11 genes (KATP/TNDM) or by chromosome 6q24 abnormalities (6q24/TNDM). We wanted to assess whether these different genetic aetiologies result in distinct clinical features. Design: Retrospective analysis of the Italian data set of patients with TNDM. Methods: Clinical features and treatment of 22 KATP/TNDM patients and 12 6q24/TNDM patients were compared. Results: Fourteen KATP/TNDM probands had a carrier parent with abnormal glucose values, four patients with 6q24 showed macroglossia and/or umbilical hernia. Median age at diabetes onset and birth weight were lower in patients with 6q24 (1 week; -2.27 SD) than those with KATP mutations (4.0 weeks; -1.04 SD) (P = 0.009 and P = 0.007, respectively). Median time to remission was longer in KATP/TNDM than 6q24/TNDM (21.5 weeks vs 12 weeks) (P = 0.002). Two KATP/TNDM patients entered diabetes remission without pharmacological therapy. A proband with the ABCC8/L225P variant previously associated with permanent neonatal diabetes entered 7-year long remission after 1 year of sulfonylurea therapy. Seven diabetic individuals with KATP mutations were successfully treated with sulfonylurea monotherapy; four cases with relapsing 6q24/TNDM were treated with insulin, metformin or combination therapy. Conclusions: If TNDM is suspected, KATP genes should be analyzed first with the exception of patients with macroglossia and/or umbilical hernia. Remission of diabetes without pharmacological therapy should not preclude genetic analysis. Early treatment with sulfonylurea may induce long-lasting remission of diabetes in patients with KATP mutations associated with PNDM. Adult patients carrying KATP/TNDM mutations respond favourably to sulfonylurea monotherapy.


Assuntos
Diabetes Mellitus , Doenças do Recém-Nascido , Conjuntos de Dados como Assunto , Diabetes Mellitus/classificação , Diabetes Mellitus/congênito , Diabetes Mellitus/diagnóstico , Diabetes Mellitus/genética , Diabetes Mellitus/terapia , Diagnóstico Diferencial , Técnicas de Diagnóstico Endócrino/normas , Feminino , Humanos , Lactente , Recém-Nascido , Doenças do Recém-Nascido/classificação , Doenças do Recém-Nascido/diagnóstico , Doenças do Recém-Nascido/genética , Doenças do Recém-Nascido/terapia , Itália , Masculino , Mutação , Canais de Potássio Corretores do Fluxo de Internalização/genética , Indução de Remissão/métodos , Estudos Retrospectivos , Receptores Sulfonilureia/genética
2.
Eur J Endocrinol ; 184(2): E5-E9, 2021 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-33410763

RESUMO

Diagnostic accuracy studies are fundamental for the assessment of diagnostic tests. Researchers need to understand the implications of their chosen design, opting for comparative designs where possible. Researchers should analyse test accuracy studies using the appropriate methods, acknowledging the uncertainty of results and avoiding overstating conclusions and ignoring the clinical situation which should inform the trade-off between sensitivity and specificity. Test accuracy studies should be reported with transparency using the STAndards for the Reporting of Diagnostic accuracy studies (STARD) checklist.


Assuntos
Técnicas de Diagnóstico Endócrino/normas , Testes Diagnósticos de Rotina/métodos , Testes Diagnósticos de Rotina/normas , Lista de Checagem , Humanos , Distribuição Aleatória , Valores de Referência , Projetos de Pesquisa , Tamanho da Amostra , Sensibilidade e Especificidade
3.
Eur J Endocrinol ; 184(3): 399-411, 2021 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-33444226

RESUMO

Objective: To investigate the impact of age, obesity and metabolic parameters on 13 circulating steroids in reproductive and menopausal age. To define reference intervals (RIs). Design: Cross-sectional. Methods: Three hundred and twenty five drug-free, healthy and eumenorrheic women were selected from the general population. Independent relationships of LC-MS/MS-determined steroid levels with age, BMI and metabolic parameters were estimated. Reference sub-cohorts were defined for calculating upper and lower limits in reproductive age, menstrual phases and menopause, and these were compared with limits in dysmetabolic sub-cohorts. Results: Lower androgens, pro-androgens and estrogens, but higher cortisol and metabolites were found in menopausal compared to reproductive age women. Androgens and precursors decreased during reproductive age (P < 0.001-P = 0.002) but not after menopause. 17OH-progesterone decreased with BMI (P = 0.006) and glucocorticoids with waist circumference (P < 0.001P = 0.002) in reproductive age, but increased with triglycerides (P=0.011P=0.038) after menopause. Inverse associations of dihydrotestosterone with BMI (P=0.004) and HDL-cholesterol (P=0.010), estrone with total cholesterol (P=0.033) and estradiol with triglycerides (P=0.011) were found in reproductive age. After menopause, estrone increased with waist circumference (P<0.001) and decreased with insulin resistance (P=0.012). Ovarian steroid RIs were estimated in menstrual phases and menopause. Age- and reproductive status-specific RIs were generated for androgens, precursors and corticosteroids. Lower limits for reproductive age cortisol (P=0.020) and menopausal 11-deoxycortisol (P=0.003) in dysmetabolic sub-cohorts were reduced and increased, respectively, compared to reference limits. Conclusions: Obesity and dysmetabolism differently influence circulating steroids in reproductive and menopausal status. Age, menstrual and menopausal status-specific RIs were provided by LC-MS/MS for a broad steroid panel.


Assuntos
Envelhecimento/sangue , Análise Química do Sangue/normas , Metabolismo Energético/fisiologia , Hormônios Esteroides Gonadais/sangue , Menopausa/sangue , Adolescente , Adulto , Fatores Etários , Idoso , Idoso de 80 Anos ou mais , Envelhecimento/metabolismo , Análise Química do Sangue/métodos , Cromatografia Líquida/normas , Estudos Transversais , Técnicas de Diagnóstico Endócrino/normas , Feminino , Hormônios Esteroides Gonadais/análise , Hormônios Esteroides Gonadais/normas , Humanos , Menopausa/metabolismo , Pessoa de Meia-Idade , Valores de Referência , Fatores Sexuais , Espectrometria de Massas em Tandem/normas , Adulto Jovem
4.
Endocrinol. diabetes nutr. (Ed. impr.) ; 67(8): 500-508, oct. 2020. graf, tab
Artigo em Espanhol | IBECS | ID: ibc-196882

RESUMO

INTRODUCCIÓN: Las herramientas para analizar la casuística en consultas externas son escasas e insatisfactorias. El objetivo de este trabajo de la Sociedad Castellano Manchega de Endocrinología, Nutrición y Diabetes (SCAMEND) fue el desarrollo de una herramienta que permita analizar la casuística de las consultas externas de Endocrinología y Nutrición teniendo en cuenta la complejidad de la patología atendida. MATERIAL Y MÉTODOS: Se definió el Índice SCAMEND de Complejidad en Consultas Externas de Endocrinología y Nutrición (ISCCE-EyN) mediante método Delphi con dos rondas entre especialistas en Endocrinología y Nutrición, comparando la complejidad de cada patología con la de una revisión de hipotiroidismo primario. RESULTADOS: Las primeras visitas fueron consideradas más complejas que las visitas sucesivas. La patología tiroidea no neoplásica y el sobrepeso/obesidad sin complicaciones fueron consideradas las patologías menos complejas, mientras que las metabolopatías, los síndromes de neoplasias endocrinas múltiples y el carcinoma suprarrenal fueron consideradas las más complejas. El grado de consenso fue elevado en la mayoría de las patologías analizadas. CONCLUSIONES: Presentamos una herramienta que permite analizar la casuística de las consultas externas de Endocrinología y Nutrición teniendo en cuenta la complejidad inherente a la patología del paciente atendido. Esta herramienta puede servir para realizar comparaciones entre centros, para asignar mejores recursos dentro de un determinado servicio o para la autoevaluación


INTRODUCTION: The tools for analyzing the case-mix in outpatient clinics are scarce few and unsatisfactory. The objective of this study conducted by Sociedad Castellano Manchega de Endocrinología, Nutrición y Diabetes (SCAMEND) was to develop a tool that allows for analyzing the case-mix in outpatient endocrinology and nutrition clinics, considering bearing in mind the complexity of the conditions seen. MATERIAL AND METHODS: Using the Delphi method, the SCAMEND index of complexity in outpatient endocrinology and nutrition clinics (ISCCE-EyN) was developed by endocrinologists in two rounds, comparing the complexity of each condition being compared with that of a review visit of primary hypothyroidism. RESULTS: The first visits were considered more complex than the subsequent visits. Non-neoplastic thyroid disease and uncomplicated overweight/obesity were considered as the least complex diseases, while metabolic diseases, multiple endocrine neoplasia syndromes, and adrenal carcinoma were considered as the most complex. The degree of agreement was high in most of the diseases analyzed. CONCLUSIONS: This tool allows for analyzing the case-mix in outpatient endocrinology and nutrition clinics, based on the inherent complexity of the disease of the patient is reported. This tool may be used for comparisons between centers, to better allocate resources within a given service, or for self-evaluation


Assuntos
Humanos , Masculino , Feminino , Grupos Diagnósticos Relacionados/classificação , Ambulatório Hospitalar , Sociedades Médicas/normas , Hipotireoidismo/epidemiologia , Ciências da Nutrição/organização & administração , Endocrinologia/normas , Técnica Delfos , Técnicas de Diagnóstico Endócrino/normas , Doenças do Sistema Endócrino/epidemiologia , Assistência Ambulatorial/normas
5.
Nutr Metab Cardiovasc Dis ; 30(10): 1633-1644, 2020 09 24.
Artigo em Inglês | MEDLINE | ID: mdl-32771260

RESUMO

BACKGROUND AND AIM: Diabetic ketoacidosis (DKA) is a serious medical emergency once considered typical of type 1 diabetes (T1DM), but now reported to occur in type 2 and GDM patients as well. DKA can cause severe complications and even prove fatal. The aim of our study was to review recent international and national guidelines on diagnosis, clinical presentation and treatment of diabetic ketoacidosis, to provide practical clinical recommendations. METHODS AND RESULTS: Electronic databases (MEDLINE (via PUB Med), Scopus, Cochrane library were searched for relevant literature. Most international and national guidelines indicate the same accurate flow chart to diagnose, to evaluate from clinical and laboratory point of view, and treat diabetic ketoacidosis. CONCLUSION: Prompt diagnosis, rapid execution of laboratory analysis and correct treatment are imperative to reduce the mortality related to diabetic ketoacidosis. These recommendations are designed to help healthcare professionals reduce the frequency and burden of DKA.


Assuntos
Cetoacidose Diabética/terapia , Endocrinologia/normas , Consenso , Cetoacidose Diabética/diagnóstico , Cetoacidose Diabética/mortalidade , Técnicas de Diagnóstico Endócrino/normas , Humanos , Valor Preditivo dos Testes , Prognóstico , Fatores de Risco
6.
Eur J Endocrinol ; 183(4): 419-426, 2020 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-32688338

RESUMO

Objective: The need for personalization of the reference values of thyroid function tests has been previously suggested. We aimed at determining TSH reference values in a large cohort of children according to age, sex, BMI, and ethnicity. Design: A population-based cohort study. Methods: The study cohort included 75 549 healthy children aged 5-18 years. Data analyzed included age, gender, TSH, FT4 levels, BMI and ethnicity. Multivariate logistic regression analysis examined the associations between the study parameters. Results: TSH in the Jewish population is lower than in the non-Jewish population (median: 2.1 IU/L (IQR: 1.5) vs 2.2 IU/L (IQR: 1.5), P < 0.0001). TSH is significantly affected by BMI for children defined as underweight, normal weight, overweight or obese, levels increased as weight diverged from the normal range (median levels: 2.1 IU/L (IQR: 1.4), 2.0 IU/L (IQR: 1.3), 2.1 IU/L (IQR: 1.4), 2.4 (IQR: 1.5), respectively, P < 0.001). The 2.5 percentile is affected by gender and BMI (P < 0.02 and P < 0.001, respectively), while the 97.5 percentile is affected by ethnic origin and BMI (P < 0.001 for both). New TSH reference intervals (RI) adjusted according to BMI and ethnicity are suggested. Comparison of the old and new RI demonstrate the significance of RI personalization: 25.1% of the children with TSH levels above the old RI are within the new RI, while 2.3% of the children who were in the old RI are below the new RI. Conclusions: TSH reference values in children are affected by BMI and ethnicity. Reference values should be individualized accordingly to improve future clinical decision-making and treatment.


Assuntos
Índice de Massa Corporal , Grupos Étnicos , Medicina de Precisão/métodos , Testes de Função Tireóidea/normas , Tireotropina/sangue , Adolescente , Análise Química do Sangue/normas , Criança , Pré-Escolar , Técnicas de Diagnóstico Endócrino/normas , Feminino , Humanos , Judeus , Masculino , Pediatria/métodos , Pediatria/normas , Medicina de Precisão/normas , Valores de Referência , Estudos Retrospectivos , Tireotropina/normas , Tiroxina/sangue
8.
Endocrinol. diabetes nutr. (Ed. impr.) ; 67(5): 342-350, mayo 2020. graf
Artigo em Inglês | IBECS | ID: ibc-191310

RESUMO

Gestational diabetes mellitus (GDM) increases the risk of adverse events in pregnancy and jeopardizes long-term health of the mother and offspring. There is currently no consensus as to what screening strategies improve the efficiency of GDM diagnosis. Which criteria should be used? Is the one-step or two-step procedure better? There is no agreement as to what the best dietary approach in the treatment of GDM is. In addition, different nutritional interventions have been studied in the prevention of GDM. The Mediterranean diet seems to be effective in preventing GDM and other maternofoetal outcomes. We review herein our experience using the one-step criteria for GDM screening; the treatment and prevention strategies used; and the overall impact of nutrition on maternofoetal health


La diabetes gestacional (DG) incrementa el riesgo de tener eventos adversos durante el embarazo, y también afecta a la salud materna y de la descendencia a largo plazo. En la actualidad no existe un consenso sobre qué estrategia de cribado es más eficaz para el diagnóstico de la DG. ¿Qué criterios se deberían utilizar? ¿Es mejor hacerlo en un solo paso o en 2? Tampoco existe un acuerdo universal sobre cuál es el mejor tratamiento nutricional ni qué intervención nutricional es la más adecuada para su prevención. La dieta mediterránea parece ser las más efectiva en la prevención no solo de la DG, sino que también de otros eventos adversos materno-fetales. En este artículo revisamos la experiencia de nuestro grupo en la aplicación de los criterios diagnósticos de un solo paso para la DG; las estrategias empleadas en el tratamiento y prevención de la DG, y del impacto global que tiene la alimentación sobre la salud materno-fetal


Assuntos
Humanos , Feminino , Gravidez , Adulto , Diabetes Gestacional/prevenção & controle , Diabetes Gestacional/terapia , Programas de Nutrição , Técnicas de Diagnóstico Endócrino/normas , Vigilância Nutricional , Dieta Mediterrânea , Estilo de Vida , Sobrepeso
9.
Best Pract Res Clin Endocrinol Metab ; 34(2): 101346, 2020 03.
Artigo em Inglês | MEDLINE | ID: mdl-31708376

RESUMO

Pheochromocytomas are rare neuroendocrine chromaffin-derived tumors that arise within the adrenal medulla. They are usually benign, but if not diagnosed or if left untreated, they can have devastating consequences. Clinical consideration of the diagnosis is paramount, as they may have protean manifestations, and a high index of suspicion is essential if serious consequences are to be avoided. An accurate biochemical diagnosis is crucial for the management of these patients: either plasma or urinary metanephrines are both highly sensitive and specific if correctly employed, but knowledge of pre- and post-analytic interference is essential. Diagnostic imaging with cross-sectional CT and/or MRI offers high sensitivity in their detection, but lack specificity. The introduction of PET/CT/MR has led to a dramatic improvement in the localization of both pheochromocytomas and paragangliomas, together with the increasing availability of new functional imaging radionuclides. Optimal investigation and accurate diagnosis is best achieved at 'centers of excellence' with expert multidisciplinary teams.


Assuntos
Neoplasias das Glândulas Suprarrenais/diagnóstico , Técnicas de Diagnóstico Endócrino , Feocromocitoma/diagnóstico , Neoplasias das Glândulas Suprarrenais/sangue , Neoplasias das Glândulas Suprarrenais/urina , Análise Química do Sangue/métodos , Análise Química do Sangue/normas , Estudos Transversais , Técnicas de Diagnóstico Endócrino/normas , Humanos , Imagem por Ressonância Magnética , Metanefrina/sangue , Metanefrina/urina , Feocromocitoma/sangue , Feocromocitoma/urina , Tomografia Computadorizada com Tomografia por Emissão de Pósitrons , Sensibilidade e Especificidade , Urinálise/métodos , Urinálise/normas
10.
Gen Comp Endocrinol ; 287: 113324, 2020 02 01.
Artigo em Inglês | MEDLINE | ID: mdl-31733208

RESUMO

There is growing interest in the use of glucocorticoid (GC) hormones to understand how wild animals respond to environmental challenges. Blood is the best medium for obtaining information about recent GC levels; however, obtaining blood requires restraint and can therefore be stressful and affect GC levels. There is a delay in GCs entering blood, and it is assumed that blood obtained within 3 min of first disturbing an animal reflects a baseline level of GCs, based largely on studies of birds and mammals. Here we present data on the timing of changes in the principle reptile GC, corticosterone (CORT), in four reptile species for which blood was taken within a range of times 11 min or less after first disturbance. Changes in CORT were observed in cottonmouths (Agkistrodon piscivorus; 4 min after first disturbance), rattlesnakes (Crotalus oreganus; 2 min 30 s), and rock iguanas (Cyclura cychlura; 2 min 44 s), but fence lizards (Sceloporus undulatus) did not exhibit a change within their 10-min sampling period. In both snake species, samples taken up to 3-7 min after CORT began to increase still had lower CORT concentrations than after exposure to a standard restraint stressor. The "3-min rule" appears broadly applicable as a guide for avoiding increases in plasma CORT due to handling and sampling in reptiles, but the time period in which to obtain true baseline CORT may need to be shorter in some species (rattlesnakes, rock iguanas), and may be unnecessarily limiting for others (cottonmouths, fence lizards).


Assuntos
Coleta de Amostras Sanguíneas/veterinária , Corticosterona/sangue , Répteis/sangue , Restrição Física/fisiologia , Agkistrodon/sangue , Animais , Coleta de Amostras Sanguíneas/métodos , Coleta de Amostras Sanguíneas/psicologia , Coleta de Amostras Sanguíneas/normas , Corticosterona/análise , Crotalus/sangue , Técnicas de Diagnóstico Endócrino/normas , Técnicas de Diagnóstico Endócrino/veterinária , Manobra Psicológica , Iguanas/sangue , Lagartos/sangue , Restrição Física/psicologia , Estresse Psicológico/sangue , Estresse Psicológico/etiologia , Fatores de Tempo
11.
Diabetes Care ; 43(2): 398-404, 2020 02.
Artigo em Inglês | MEDLINE | ID: mdl-31658975

RESUMO

OBJECTIVE: To determine if the International Hypoglycaemia Study Group (IHSG) level 2 low glucose definition can identify clinically relevant hypoglycemia in clinical trials and offer value as an end point for future trials. RESEARCH DESIGN AND METHODS: A post hoc analysis was performed of the SWITCH (SWITCH 1: n = 501, type 1 diabetes; SWITCH 2: n = 721, type 2 diabetes) and DEVOTE (n = 7,637, type 2 diabetes) trials utilizing the IHSG low glucose definitions. Patients in all trials were randomized to either insulin degludec or insulin glargine 100 units/mL. In the main analysis, the following definitions were compared: 1) American Diabetes Association (ADA) 2005 (plasma glucose [PG] confirmed ≤3.9 mmol/L with symptoms); and 2) IHSG level 2 (PG confirmed <3.0 mmol/L, independent of symptoms). RESULTS: In SWITCH 2, the estimated rate ratios of hypoglycemic events indicated increasing differences between treatments with decreasing PG levels until 3.0 mmol/L, following which no additional treatment differences were observed. Similar results were observed for the SWITCH 1 trial. In SWITCH 2, the IHSG level 2 definition produced a rate ratio that was lower than the ADA 2005 definition. CONCLUSIONS: The IHSG level 2 definition was validated in a series of clinical trials, demonstrating its ability to discriminate between basal insulins. This definition is therefore recommended to be uniformly adopted by regulatory bodies and used in future clinical trials.


Assuntos
Técnicas de Diagnóstico Endócrino/normas , Hipoglicemia/diagnóstico , Ensaios Clínicos Controlados Aleatórios como Assunto , Sociedades Médicas/normas , Adulto , Idoso , Idoso de 80 Anos ou mais , Diabetes Mellitus Tipo 1/sangue , Diabetes Mellitus Tipo 1/diagnóstico , Diabetes Mellitus Tipo 1/tratamento farmacológico , Diabetes Mellitus Tipo 2/sangue , Diabetes Mellitus Tipo 2/diagnóstico , Diabetes Mellitus Tipo 2/tratamento farmacológico , Europa (Continente) , Feminino , Humanos , Hipoglicemia/sangue , Hipoglicemia/induzido quimicamente , Hipoglicemiantes/uso terapêutico , Insulina Glargina/uso terapêutico , Insulina de Ação Prolongada/uso terapêutico , Masculino , Pessoa de Meia-Idade , Guias de Prática Clínica como Assunto/normas , Ensaios Clínicos Controlados Aleatórios como Assunto/métodos , Ensaios Clínicos Controlados Aleatórios como Assunto/normas , Padrões de Referência , Valores de Referência , Sociedades Médicas/organização & administração , Terminologia como Assunto , Estados Unidos , Adulto Jovem
12.
Presse Med ; 48(12): 1445-1455, 2019 Dec.
Artigo em Francês | MEDLINE | ID: mdl-31761607

RESUMO

The Hormonal assessment of Arterial Hypertension (HTA) is an important part of the balance of resistant hypertension. This assessment - going well beyond the search for primary hyperaldosteronism (PHA) - requires a rigorous methodology and a robust experience of the nursing team within a dedicated unit: the HTA Day Hospital. If all the conditions are met and the assessment carried out well, it will allow a significant profitability since in this resistant hypertensive population it will detect a particular mechanism or secondary hypertension in 70% of patients. Since the diagnosis of PHA is essentially biological, the proper execution of the various stages of the assessment is essential to its documentation.


Assuntos
Técnicas de Diagnóstico Endócrino , Hormônios/análise , Hipertensão/diagnóstico , Aldosterona/análise , Aldosterona/sangue , Anti-Hipertensivos/uso terapêutico , Análise Química do Sangue/métodos , Análise Química do Sangue/normas , Diagnóstico Diferencial , Técnicas de Diagnóstico Endócrino/normas , Resistência a Medicamentos/efeitos dos fármacos , Hormônios/sangue , Humanos , Hiperaldosteronismo/diagnóstico , Hipertensão/sangue , Hipertensão/tratamento farmacológico , Hipertensão/etiologia , Renina/análise , Renina/sangue
13.
Presse Med ; 48(12): 1459-1467, 2019 Dec.
Artigo em Francês | MEDLINE | ID: mdl-31757728

RESUMO

Non-alcoholic fatty liver disease (NAFLD) is the most common cause of liver disease, the most common cause of chronic liver function augmentation and it will be the most common indication for liver transplantation in 2020. The prevalence of NAFLD has increased over time in line with the increase of obesity and type 2 diabetes. There is a discrepancy between the studies concerning the prevalence of NAFLD because of the different diagnostic methods used (ultrasound or magnetic resonance, fibroscan, controlled attenuation parameter (CAP), histology). Because of its high prevalence the impact of NAFLD in public health is real. Therapeutic advances must be made to better understand the natural history of NAFLD and improve the management of this emerging liver disease.


Assuntos
Hepatopatia Gordurosa não Alcoólica/epidemiologia , Saúde Pública , Diagnóstico Diferencial , Técnicas de Diagnóstico Endócrino/normas , Técnicas de Imagem por Elasticidade , Humanos , Cirrose Hepática/diagnóstico , Cirrose Hepática/epidemiologia , Transplante de Fígado/estatística & dados numéricos , Hepatopatia Gordurosa não Alcoólica/diagnóstico , Hepatopatia Gordurosa não Alcoólica/terapia , Prevalência , Saúde Pública/estatística & dados numéricos , Saúde Pública/tendências , Fatores de Risco
14.
Horm Res Paediatr ; 92(3): 150-156, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31707392

RESUMO

INTRODUCTION: Almost 20 years after the first international guidelines on the diagnosis and treatment of GHD have been published, clinical practice varies significantly. The low accuracy of endocrine tests for GHD and the burden caused by ineffective treatment of individual patients were strong motives for national endocrine societies to set up national guidelines regarding how to diagnose GHD in childhood. This audit aims to review the current state and identify common changes, which may improve the diagnostic procedure. METHODS: A group of eight German pediatric endocrinologists contacted eight pediatric endocrinologists from Spain, France, Poland, the UK, the Netherlands, Denmark, Italy, and the US. Each colleague responded as a representative for the own country to a detailed questionnaire containing 22 open questions about national rules, guidelines, and practice with respect to GHD diagnostics and GH prescription. The results were presented and discussed in a workshop and then documented in this study which was reviewed by all participants. RESULTS: National guidelines are available in 7 of 9 countries. GH is prescribed by pediatric endocrinologists in most countries. Some countries have established boards that review and monitor prescriptions. Preferred GH stimulation tests and chosen cutoffs vary substantially. Overall, a trend to lowering the GH cutoff was identified. Priming is becoming more popular and now recommended in 5 out of 9 countries; however, with different protocols. The definition of pretest-conditions that qualify the patient to undergo GH testing varies substantially in content and strictness. The most frequently used clinical sign is low height velocity, but definition varies. Height, IGF-1, and bone age are additional parameters recommended in some countries. CONCLUSIONS: GHD diagnostics varies substantially in eight European countries and in the US. It seems appropriate to undertake further efforts to harmonize endocrine diagnostics in Europe and the US based on available scientific evidence.


Assuntos
Técnicas de Diagnóstico Endócrino/normas , Hormônio do Crescimento Humano/deficiência , Guias de Prática Clínica como Assunto/normas , Dinamarca , Europa (Continente) , Feminino , França , Alemanha , Hormônios Esteroides Gonadais/administração & dosagem , Hormônio do Crescimento Humano/sangue , Hormônio do Crescimento Humano/uso terapêutico , Humanos , Lactente , Cooperação Internacional , Itália , Masculino , Países Baixos , Polônia , Valores de Referência , Espanha , Inquéritos e Questionários , Reino Unido , Estados Unidos
15.
Reprod Biomed Online ; 39(4): 685-697, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31515170

RESUMO

RESEARCH QUESTION: A close association between Kisspeptin-1 (KISS-1) and reproductive physiology has been reported, but the results on circulatory KISS-1 are ambiguous in patients with polycystic ovary syndrome (PCOS). A systematic review and meta-analysis were conducted to evaluate the association between KISS-1 and PCOS, and to test its diagnostic test accuracy (DTA) through DTA meta-analysis. DESIGN: Relevant studies were identified by searching PubMed and other databases in addition to manual searching of cross-references. Random-effects model was used to obtain standardized mean differences (SMD), pooled correlation coefficients and summary of DTA. Meta-regression and sub-group analyses were conducted to explore heterogeneity. The presence of publication bias was tested using funnel plot analysis. RESULTS: This meta-analysis finally included 12 studies. Compared with controls, women with PCOS showed significantly increased circulatory KISS-1 levels (SMD = 0.47; P = 0.002). Meta-analysis of correlations showed positive associations between KISS-1 and anti-Müllerian hormone (AMH) (P = 0.03), testosterone (P < 0.001) and dehydroepiandrosterone (P = 0.004). The pooled diagnostic odds ratio and area under curve were 13.71 and 0.835, respectively. A one-study leave-out sensitivity analysis indicated that no single study had a significant influence on the overall outcome, suggesting the robustness of this meta-analysis. CONCLUSIONS: This meta-analysis showed significantly increased KISS-1 level in PCOS, and its association with AMH reflects its role in reproductive physiology. In our DTA meta-analysis, KISS-1 showed good accuracy for PCOS detection. Further large-scale studies are required to establish its validity.


Assuntos
Técnicas de Diagnóstico Endócrino/normas , Testes Diagnósticos de Rotina/normas , Kisspeptinas/sangue , Síndrome do Ovário Policístico/sangue , Hormônio Antimülleriano/sangue , Estudos de Casos e Controles , Testes Diagnósticos de Rotina/métodos , Feminino , Humanos , Síndrome do Ovário Policístico/diagnóstico , Síndrome do Ovário Policístico/epidemiologia , Valor Preditivo dos Testes , Reprodutibilidade dos Testes , Testosterona/sangue
16.
Hormones (Athens) ; 18(3): 251-254, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31388898

RESUMO

Double and multiple adenomas of the pituitary are composed of two or more distinct tumors located in the same gland. They represent uncommon lesions measuring less than 1 cm, reported as having a low incidence in autopsies and occurring even more infrequently in surgical series. The histological diagnosis of double adenomas in surgical material is often extremely difficult, and confirmation requires immunohistochemistry and, occasionally, electron microscopy. Fragmented tissue material submitted for histology after transsphenoidal resection complicates the diagnosis. Difficulties in demonstrating double or multiple adenomas by imaging techniques contribute to diagnostic failure. Magnetic resonance imaging (MRI) techniques may disclose two separate adenomas located in the same pituitary gland. Intraoperative MRI and imaging ultrasonography, together with positron emission computed tomography, more accurately identify sites of residual tumors. These techniques might also detect postoperatively a residual tumor belonging to the second component of double adenoma. Double adenomas may also create extreme clinical diagnostic challenges. It is almost impossible to suspect functioning double adenomas with combined hormone secretion, each one secreting a different hormone, and distinguish them from an isolated plurihormonal adenoma, simultaneously secreting more than one hormone. Double adenomas may underlie surgical failure when one adenoma is removed while the other is left behind. Despite the low frequency of double adenomas, identification and resection of both of them is of major importance for the achievement of biochemical cure.


Assuntos
Adenoma/diagnóstico , Técnicas de Diagnóstico Endócrino , Neoplasias Primárias Múltiplas/diagnóstico , Neoplasias Hipofisárias/diagnóstico , Adenoma/epidemiologia , Adenoma/patologia , Adenoma/terapia , Diagnóstico Diferencial , Técnicas de Diagnóstico Endócrino/normas , Humanos , Imagem por Ressonância Magnética , Neoplasia Residual , Neoplasias Primárias Múltiplas/epidemiologia , Neoplasias Primárias Múltiplas/patologia , Neoplasias Primárias Múltiplas/terapia , Neoplasias Hipofisárias/epidemiologia , Neoplasias Hipofisárias/patologia , Neoplasias Hipofisárias/terapia , Tomografia por Emissão de Pósitrons , Prognóstico
17.
Ann Endocrinol (Paris) ; 80(4): 250-258, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31445667

RESUMO

Adrenal incidentaloma refers to an asymptomatic adrenal mass detected through an imaging procedure performed for reasons unrelated to adrenal dysfunction or suspected dysfunction. In general, adrenal incidentalomas are non-functioning adrenal adenomas, but in some cases, may require therapeutic intervention: eg., adrenocortical carcinoma, pheochromocytoma, primary aldosteronism, cortisol hypersecretion, or adrenal insufficiency. Hormone assessment is crucial to characterize adrenal incidentaloma. Nowadays, various hormone assay methods are available, such as immunoassay and mass spectrometry. However, there are several pitfalls that should be considered: e.g., circadian rhythm, gender/age dependency, preanalytical and analytical issues, and drug interactions. Pharmacological or analytical interference can lead to false serum concentrations and may result in misinterpretation of results and thus inappropriate treatment. The purpose of this review was to study the main interferences that may be observed in the different tumor types of adrenal incidentalomas in order to help physicians in their clinical decision-making and for the overall benefit of patients.


Assuntos
Neoplasias das Glândulas Suprarrenais/diagnóstico , Técnicas de Laboratório Clínico , Técnicas de Diagnóstico Endócrino/normas , Hormônios/análise , Preparações Farmacêuticas/química , Neoplasias das Glândulas Suprarrenais/sangue , Artefatos , Técnicas de Laboratório Clínico/métodos , Técnicas de Laboratório Clínico/normas , Contaminação de Medicamentos , Contaminação de Equipamentos , Hormônios/sangue , Humanos , Hidrocortisona/análise , Hidrocortisona/sangue , Achados Incidentais , Testes de Função Adreno-Hipofisária/métodos , Testes de Função Adreno-Hipofisária/normas , Fase Pré-Analítica/normas
19.
Metab Syndr Relat Disord ; 17(8): 423-429, 2019 10.
Artigo em Inglês | MEDLINE | ID: mdl-31305214

RESUMO

Background: Applying the hyperinsulinemic-euglycemic clamp to estimate insulin resistance (IR) is accurate but time-consuming, so identifying a simple and effective index for IR is vitally important. The present study aimed to compare the lipid accumulation product (LAP), visceral adiposity index (VAI), body mass index (BMI), waist circumference (WC), homeostasis model assessment of insulin resistance (HOMA-IR), and Chinese visceral adiposity index (CVAI) using the hyperinsulinemic-euglycemic clamp as a reference and to screen a simple and effective indicator for IR in Chinese women of childbearing age. Methods: The present study included a cross-sectional study of 537 reproductive-aged women and an interventional study of 90 randomly chosen polycystic ovarian syndrome (PCOS) women. Physical, laboratory, and hyperinsulinemic-euglycemic clamp were completed, and the BMI, WC, LAP, VAI, CVAI, and HOMA-IR were calculated. A linear correlation and a receiver operating characteristic curve were performed. After intervention with metformin, the effects were estimated in the third month. Results: PCOS women had worse glycometabolism, serum lipid metabolism and IR, and higher prevalence rates of metabolic disorders than those without PCOS. The CVAI was strongly associated with the M value (r = -0.6953, P < 0.0001) and outperformed other parameters with the largest area under the curve (0.903) and Youden index (71.07%) for IR diagnosis in Chinese reproductive-aged women, and the diagnostic point was >28.5. After 3 months of metformin therapy, IR improved with remarkable increases in M value and reductions in the CVAI. Conclusion: The CVAI can be used as an appropriate surrogate indicator for the hyperinsulinemic-euglycemic clamp to identify IR in Chinese women of childbearing age. The interventional trial part of this study has been registered as a clinical trial (no. ChiCTR-IIR-16007901).


Assuntos
Técnica Clamp de Glucose/normas , Indicadores Básicos de Saúde , Resistência à Insulina , Programas de Rastreamento , Adolescente , Adulto , Fatores Etários , Biomarcadores/análise , Índice de Massa Corporal , China , Estudos Transversais , Técnicas de Diagnóstico Endócrino/normas , Feminino , Técnica Clamp de Glucose/métodos , Humanos , Produto da Acumulação Lipídica , Programas de Rastreamento/métodos , Metformina/uso terapêutico , Obesidade Abdominal/sangue , Obesidade Abdominal/complicações , Obesidade Abdominal/tratamento farmacológico , Obesidade Abdominal/metabolismo , Síndrome do Ovário Policístico/sangue , Síndrome do Ovário Policístico/complicações , Síndrome do Ovário Policístico/tratamento farmacológico , Síndrome do Ovário Policístico/metabolismo , Padrões de Referência , Reprodução/fisiologia , Circunferência da Cintura , Adulto Jovem
20.
Endocr Pathol ; 30(3): 219-236, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31209729

RESUMO

The 2017 World Health Organization classification of central nervous system and endocrine tumors have introduced significant changes in the diagnostic criteria for pituitary lesions. The aim of our paper is to describe the epidemiological, clinico-pathological, and radiological features of a single consecutive institutional surgical series of rare pituitary lesions, using these new criteria. Of the 316 endoscopic endonasal trans-sphenoidal approaches performed for pituitary lesions between 2010 and 2018, 15 rare lesions were encountered. These included metastases, pituitary carcinomas, pituicytomas, granular cell tumor, primary pituitary lymphomas, germinoma, mixed gangliocytoma-adenoma, hypophysitis, and pituitary hyperplasia. Their clinical, radiological, and pathological features are herewith presented along with a literature review that enabled us to propose an algorithm to facilitate a diagnosis for rare pituitary lesions.


Assuntos
Técnicas de Diagnóstico Endócrino , Doenças da Hipófise/diagnóstico , Doenças Raras/diagnóstico , Técnicas de Diagnóstico Endócrino/normas , Humanos , Doenças da Hipófise/epidemiologia , Doenças da Hipófise/terapia , Doenças Raras/epidemiologia , Doenças Raras/terapia , Estudos Retrospectivos , Centros de Atenção Terciária , Testes de Função Tireóidea/métodos , Testes de Função Tireóidea/normas
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