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1.
iScience ; 27(4): 109369, 2024 Apr 19.
Artigo em Inglês | MEDLINE | ID: mdl-38500833

RESUMO

Metabolic biomarkers, particularly glycated hemoglobin and fasting plasma glucose, are pivotal in the diagnosis and control of diabetes mellitus. Despite their importance, they exhibit limitations in assessing short-term glucose variations. In this study, we propose labile hemoglobin as an additional biomarker, providing insightful perspectives into these fluctuations. By utilizing datasets from 40,652 retrospective general participants and conducting glucose tolerance tests on 60 prospective pediatric subjects, we explored the relationship between plasma glucose and labile hemoglobin. A mathematical model was developed to encapsulate short-term glucose kinetics in the pediatric group. Applying dimensionality reduction techniques, we successfully identified participant subclusters, facilitating the differentiation between diabetic and non-diabetic individuals. Intriguingly, by integrating labile hemoglobin measurements with plasma glucose values, we were able to predict the likelihood of diabetes in pediatric subjects, underscoring the potential of labile hemoglobin as a significant glycemic biomarker for diabetes research.

2.
Artigo em Inglês | MEDLINE | ID: mdl-37863667

RESUMO

INTRODUCTION: The quality of diabetes care varies from region to region. The objective of this study is to analyze the characteristics of care in different hospitals in Spain through a specific survey assessing different aspects of care for both children and adults. MATERIALS AND METHODS: Cross-sectional observational voluntary survey study, sent to the heads of the Endocrinology and Pediatric Endocrinology Departments or Units in public hospitals with more than 150 beds, during the first semester of 2021. A total of 105 responses were obtained, 55.5% of the 189 requested, which corresponded to a population served of 31,782,409 people, representing almost 80% of the total population served. RESULTS: Patients with diabetes under 15 years of age are cared for by Pediatric Departments, but only 58% of them have a specific Diabetes Education Unit for children, and in 72% of the cases, there is one single nurse dedicated to these tasks, and not always full-time. Those over 15 years of age are attended by specialists in Endocrinology and Nutrition in 94.3 % of hospitals. There are Therapeutic Education Units in Diabetes in practically all hospitals (94.3%). However, Diabetes Day Hospitals exist in only 32 centres and cover 40.3% of the population, since in 22 provinces there are none. Virtual and telematic consultations, as well as retinography, are available in more than 70% of cases, but access to a Diabetic Foot Unit only in 54% of centres. Monographic technological consultations on diabetes have become widespread, but access to mental health specialists with diabetes training remains limited (24% of centres), and interdisciplinary (32%) or interlevel (12%) committees are very scarce. CONCLUSION: Diabetes care in Spain shows great variability from one region to another, and some deficiencies have been detected that affect a large part of the population, such as access to Diabetic Foot Units, as well as mental health specialists with specific training. The presence of multidisciplinary and mixed committees between levels of care remains scarce.

3.
Horm Metab Res ; 54(2): 67-75, 2022 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-35130567

RESUMO

Resistance to thyroid hormone syndrome (RTHS) is defined as increased thyroxine and triiodothyronine associated with normal or increased thyrotropin. This is usually due to a pathogenic variant of the gene coding for thyroid hormone receptor B (THRB). THRB is a rare genetic disorder characterized by an altered response of target tissue to the thyroid hormone action. Retrospective cross-sectional observational study with diagnosis of RTHS evaluated in secondary and tertiary hospitals for 6 years, from 2014 to 2020, in order to describe variables including age, sex, anthropometric data, clinical and biochemical characteristics of patients, who were divided according to age, in a pediatric group from 0 to 14 years (index cases), and an adult group composed of adult relatives of index cases. A molecular analysis of the THRB gene was performed. The total retrospective cohort included 7 pediatric patients and 15 adults. We found 22 cases with a clear male predominance (14/22). Mean age is 24.8 years old (22 days-70 years). Patients were referred because of symptoms 18.2% (4/22), analysis results 22.7% (5/22), or familial study 59.1% (13/22). About 31.8% (7/22) cases show goiter, 31.8% (7/22) sympathetic symptoms and 13.6% (3/22) abnormalities in behavior. In most cases, 77.3%, (17/22) show familial background of thyroid abnormalities. It is important to remark that 18.2% (4/22) relatives received previous incorrect treatments such as thyroidectomy, because of wrong diagnosis. In conclusion, a better understanding of RTHS, its prompt molecular diagnosis and genetic counseling, could avoid unnecessary tests and inappropriate treatments.


Assuntos
Síndrome da Resistência aos Hormônios Tireóideos , Adolescente , Adulto , Criança , Pré-Escolar , Estudos Transversais , Humanos , Lactente , Recém-Nascido , Masculino , Mutação , Estudos Retrospectivos , Receptores beta dos Hormônios Tireóideos/genética , Síndrome da Resistência aos Hormônios Tireóideos/diagnóstico , Síndrome da Resistência aos Hormônios Tireóideos/genética , Tireotropina , Tiroxina , Tri-Iodotironina , Adulto Jovem
5.
An. pediatr. (2003. Ed. impr.) ; 94(2): 75-81, feb. 2021. tab
Artigo em Espanhol | IBECS | ID: ibc-201817

RESUMO

INTRODUCCIÓN: La diabetes mellitus 1 es la segunda enfermedad crónica y el trastorno endocrino-metabólico más frecuente en la infancia. Se estima una prevalencia entre 1,1 y 1,4/1000 menores de 15 años. En Andalucía la prevalencia es mayor (1,7 por mil). El objetivo del estudio es analizar la calidad de vida y adherencia al tratamiento, centrándonos en la población pediátrica de Andalucía. MÉTODOS: Estudio analítico observacional transversal multicéntrico. La muestra fue de 178 pacientes de seis hospitales con Endocrinología Pediátrica. A cada paciente se le entregaron dos cuestionarios; la encuesta de calidad de vida (PedsQL versión 3.0) y adherencia al tratamiento SCI-R. Además, se recogieron datos demográficos, clínicos, del control metabólico, y complicaciones. RESULTADOS: Se obtuvieron niveles altos tanto en la adherencia como en la calidad de vida. La primera se relacionó de forma inversa con la edad y la HbA1c, aunque el coeficiente fue tan bajo que no permite sacar conclusiones significativas. La calidad de vida se asoció con el uso de sistema de monitorización continua de glucosa en tiempo real (MCG-TR) integrado con ISCI, así como con menos hipoglucemias graves y complicaciones renales. La HbA1c media fue 7,1%. El 12,9% de los pacientes usaban ISCI. El 83,2% empleaban exclusivamente la glucemia capilar, mientras que el 16,8% usaba algún dispositivo de monitorización de glucosa intersticial. CONCLUSIONES: Se trata del primer estudio realizado en Andalucía que analiza la calidad de vida en pacientes pediátricos. Los resultados muestran niveles altos de adherencia y de calidad de vida, además de un buen control metabólico


INTRODUCTION: Diabetes mellitus 1 is the second most frequent chronic disease, and the most frequent endocrine-metabolic disorder in childhood. The estimated prevalence is between 1.1 and 1.4 / 1000 children under 15 years years-old. In Andalusia the prevalence is higher (1.7 per thousand). The objective of the study is to evaluate health-related quality of life (HRQoL) and adherence to treatment, specifically in the paediatric population of Andalusia. METHODS: A multicentre cross-sectional observational analytical study was conducted on a sample of 178 patients from six hospitals with a Paediatric Endocrinology Unit. Each patient received two questionnaires; quality of life (PedsQL version 3.0) and adherence to the self-care recommendations (SCI-R) treatment. The demographic, clinical, metabolic control data, and possible complications were also collected. RESULTS: High levels were obtained in both adherence and health-related quality of life (HRQoL). Adherence was inversely related to age and HbA1c. The health-related quality of life (HRQoL) was associated with the use of a continuous real-time glucose monitoring system (MCG-TR) combined with continuous subcutaneous insulin infusion (CSII), as well as with a lower number of severe hypoglycaemia and renal complications. The mean HbA1c was 7.1%. 12,9% of patients used ISCI. 83.2% used capillary glycemia exclusively, while 16.8% used some interstitial glucose monitoring device. CONCLUSIONS: This is the first study in Andalusia that analyzes the health-related quality of life (HRQoL) of pediatric patients. The results show high levels of adherence and health-related quality of life (HRQoL), as well as good metabolic control


Assuntos
Humanos , Masculino , Feminino , Pré-Escolar , Criança , Adolescente , Diabetes Mellitus Tipo 1/terapia , Cooperação e Adesão ao Tratamento/estatística & dados numéricos , Qualidade de Vida , Estudos Transversais , Inquéritos e Questionários , Automonitorização da Glicemia , Insulina/administração & dosagem , Hemoglobinas Glicadas/análise , Modelos Lineares , Fatores Etários , Espanha , Hipoglicemiantes/administração & dosagem
6.
An Pediatr (Engl Ed) ; 94(2): 75-81, 2021 Feb.
Artigo em Espanhol | MEDLINE | ID: mdl-32540137

RESUMO

INTRODUCTION: Diabetes mellitus 1 is the second most frequent chronic disease, and the most frequent endocrine-metabolic disorder in childhood. The estimated prevalence is between 1.1 and 1.4 / 1000 children under 15 years years-old. In Andalusia the prevalence is higher (1.7 per thousand). The objective of the study is to evaluate health-related quality of life (HRQoL) and adherence to treatment, specifically in the paediatric population of Andalusia. METHODS: A multicentre cross-sectional observational analytical study was conducted on a sample of 178 patients from six hospitals with a Paediatric Endocrinology Unit. Each patient received two questionnaires; quality of life (PedsQL version 3.0) and adherence to the self-care recommendations (SCI-R) treatment. The demographic, clinical, metabolic control data, and possible complications were also collected. RESULTS: High levels were obtained in both adherence and health-related quality of life (HRQoL). Adherence was inversely related to age and HbA1c. The health-related quality of life (HRQoL) was associated with the use of a continuous real-time glucose monitoring system (MCG-TR) combined with continuous subcutaneous insulin infusion (CSII), as well as with a lower number of severe hypoglycaemia and renal complications. The mean HbA1c was 7.1%. 12,9% of patients used ISCI. 83.2% used capillary glycemia exclusively, while 16.8% used some interstitial glucose monitoring device. CONCLUSIONS: This is the first study in Andalusia that analyzes the health-related quality of life (HRQoL) of pediatric patients. The results show high levels of adherence and health-related quality of life (HRQoL), as well as good metabolic control.


Assuntos
Diabetes Mellitus Tipo 1 , Cooperação do Paciente , Qualidade de Vida , Adolescente , Glicemia , Automonitorização da Glicemia , Criança , Pré-Escolar , Estudos Transversais , Diabetes Mellitus Tipo 1/tratamento farmacológico , Humanos , Hipoglicemiantes/uso terapêutico , Autocuidado , Espanha/epidemiologia
7.
Endocrinol. diabetes nutr. (Ed. impr.) ; 66(8): 480-486, oct. 2019. tab
Artigo em Espanhol | IBECS | ID: ibc-184141

RESUMO

Introducción: La diabetes mellitus tipo 1 es la segunda enfermedad crónica y el trastorno endocrino-metabólico más frecuente en la infancia. El objetivo de este estudio es realizar una estimación del coste directo de la diabetes mellitus tipo 1 en Andalucía, en pacientes pediátricos. Metodología: Se trata de un estudio descriptivo, observacional multicéntrico realizado durante 6 meses consecutivos de 2017-2018, partiendo de una muestra de 220 pacientes, procedentes de 6 centros hospitalarios de Andalucía. Se recogieron variables demográficas, variables relacionadas con el control metabólico, uso de sistemas de monitorización continua de glucosa, hemoglobina glucosilada media, episodios de hipoglucemias graves o cetoacidosis, comorbilidades y complicaciones existentes, así como los costes directos sanitarios; englobando los costes de medicación, materiales, determinaciones analíticas, pruebas complementarias y los relacionados con la asistencia sanitaria tanto hospitalaria como extrahospitalaria. Resultados: Se obtuvo una muestra de 178 pacientes. La edad media al diagnóstico fue de 6 años y los años de evolución de la enfermedad de 4,69 (0,29 DE) años. La hemoglobina glucosilada media fue de 7,06%, encontrándose el 25% por encima de 7,5%. El coste medio anual estimado por paciente fue de 4.720,4 €. El derivado de las insulinas (2.212,9 €) y el material para la administración de la misma y monitorización de la glucemia (1.518 €) supusieron el mayor porcentaje del gasto (79,1%). No se detecta asociación entre el control metabólico, comorbilidades y el coste de la enfermedad. Conclusión: Este estudio demuestra un coste directo asociado a la DM en edad pediátrica en Andalucía de aproximadamente 4.700 € por paciente


Introduction: Type 1 Diabetes Mellitus (T1DM) is the second leading chronic disease and the most common endocrine-metabolic disorder in childhood. The study objective was to estimate the direct cost of T1DM in pediatric patients in Andalusia. Methodology: A descriptive, observational, multicenter study was conducted during six consecutive months of 2017-2018 on a sample of 220 patients from 6 hospitals in Andalusia. Variables collected included demographic characteristics, metabolic control parameters, glucose levels, use of continuous monitoring systems, mean HbA1c levels, episodes of severe hypoglycemia and ketoacidosis, comorbidities and complications, as well as direct healthcare costs, including costs of drugs, materials, laboratory tests, and supplemental tests, as well as those derived from both inpatient and outpatient care. Results: The study sample consisted of 178 patients. Mean age at diagnosis was 6 years, and mean disease duration was 4.69 (0.29 SD) years. Mean HbA1c level was 7.06%, and 25% of patients had values higher than 7.5%. The estimated annual cost per patient was € 4,720.4. Cost derived from use of insulins (€ 2,212.9) and materials for insulin administration and blood glucose monitoring (€ 1,518) accounted for greatest proportion of cost (79.1%). No association was found between metabolic control, comorbidities, or complications and cost of disease. Conclusion: This study has shown a direct cost associated to T1DM in Andalusian children of approximately € 4,700 per patient


Assuntos
Pré-Escolar , Criança , Adolescente , Humanos , Masculino , Feminino , Diabetes Mellitus Tipo 1/economia , Custos Diretos de Serviços , Espanha , Hemoglobinas Glicadas/administração & dosagem , Hemoglobinas Glicadas/economia , Estudos Prospectivos , Inquéritos e Questionários
8.
Endocrinol Diabetes Nutr (Engl Ed) ; 66(8): 480-486, 2019 Oct.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-31122889

RESUMO

INTRODUCTION: Type 1 Diabetes Mellitus (T1DM) is the second leading chronic disease and the most common endocrine-metabolic disorder in childhood. The study objective was to estimate the direct cost of T1DM in pediatric patients in Andalusia. METHODOLOGY: A descriptive, observational, multicenter study was conducted during six consecutive months of 2017-2018 on a sample of 220 patients from 6 hospitals in Andalusia. Variables collected included demographic characteristics, metabolic control parameters, glucose levels, use of continuous monitoring systems, mean HbA1c levels, episodes of severe hypoglycemia and ketoacidosis, comorbidities and complications, as well as direct healthcare costs, including costs of drugs, materials, laboratory tests, and supplemental tests, as well as those derived from both inpatient and outpatient care. RESULTS: The study sample consisted of 178 patients. Mean age at diagnosis was 6 years, and mean disease duration was 4.69 (0.29 SD) years. Mean HbA1c level was 7.06%, and 25% of patients had values higher than 7.5%. The estimated annual cost per patient was € 4,720.4. Cost derived from use of insulins (€ 2,212.9) and materials for insulin administration and blood glucose monitoring (€ 1,518) accounted for greatest proportion of cost (79.1%). No association was found between metabolic control, comorbidities, or complications and cost of disease. CONCLUSION: This study has shown a direct cost associated to T1DM in Andalusian children of approximately € 4,700 per patient.


Assuntos
Diabetes Mellitus Tipo 1/economia , Gastos em Saúde , Hipoglicemiantes/economia , Insulina/economia , Adolescente , Glicemia/análise , Criança , Pré-Escolar , Diabetes Mellitus Tipo 1/sangue , Diabetes Mellitus Tipo 1/tratamento farmacológico , Feminino , Hemoglobinas Glicadas/análise , Humanos , Masculino , Estudos Prospectivos , Espanha
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