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1.
J Pediatr Endocrinol Metab ; 35(3): 393-397, 2022 Mar 28.
Artigo em Inglês | MEDLINE | ID: mdl-35026884

RESUMO

OBJECTIVES: It has been hypothesized that SARS-CoV-2 may play a role in the development of different forms of diabetes mellitus (DM). The Canary Islands have the highest incidence of type 1 DM (T1DM) reported in Spain (30-35/100,000 children under 14 years/year). In 2020-2021 we observed the highest incidence so far on the island of Gran Canaria, as a result of which we decided to evaluate the possible role of COVID-19 in the increased number of onsets. METHODS: We examined the presence of IgG antibodies against SARS-CoV-2 in children with new onset T1DM between October 2020 and August 2021. We compared recent T1DM incidence with that of the previous 10 years. RESULTS: Forty-two patients were diagnosed with T1DM (48.1/100,000 patients/year), representing a nonsignificant 25.7% increase from the expected incidence. Of the 33 patients who consented to the study, 32 presented negative IgG values, with only one patient reflecting undiagnosed past infection. Forty-four percent of patients presented with ketoacidosis at onset, which was similar to previous years. CONCLUSIONS: We conclude that there is no direct relationship between the increased incidence of T1DM and SARS-CoV-2 in the region. The COVID-19 pandemic did not result in an increased severity of T1DM presentation.


Assuntos
Anticorpos Antivirais/sangue , COVID-19/epidemiologia , Diabetes Mellitus Tipo 1/epidemiologia , Diabetes Mellitus Tipo 1/virologia , SARS-CoV-2/imunologia , Adolescente , Autoanticorpos/sangue , Criança , Pré-Escolar , Diabetes Mellitus Tipo 1/imunologia , Cetoacidose Diabética/epidemiologia , Humanos , Imunoglobulina G/sangue , Lactente , Recém-Nascido , Ilhotas Pancreáticas/imunologia , Espanha/epidemiologia
2.
An Pediatr (Engl Ed) ; 95(2): 93-100, 2021 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-34253504

RESUMO

INTRODUCTION: Congenital hyperinsulinism (CH) is a severe disorder characterised by the appearance of severe hypoglycaemia. Pathogenic mutations in the ABCC8 and KCNJ11 genes are the most frequent cause, although its appearance also been associated to mutations in other genes (GCK, GLUD1, HADH, HNF1A, HNF4A, SLC16A1, UCP2, HK1), and with different syndromes. MATERIALS AND METHODS: Retrospective review of patients diagnosed with CH in this unit during the last 18 years (2001-2018). Genetic analysis included screening for 11 genes in genomic DNA from peripheral blood (ABCC8, GCK, GLUD1, HADH, HNF1A, HNF4A, INSR, KCNJ11, SLC16A1, UCP2, and SLC25A15). OBJECTIVE: To carry out a clinical and genetic characterisation of the diagnosed cases of CH in Gran Canaria. RESULTS: There have been 10 cases of persistent HC since 2001. Seven of them had mutations in the ABCC8 gene, one in the HNF4α gene, and in two patients, no pathogenic mutations were found in the analysed genes. Four patients presented with previously undescribed mutations. Pancreatectomy was performed in two of the cases. The minimum insulin value detected in hypoglycaemia was 6.81 µIU/mL. The incidence of persistent CH for Gran Canaria and Lanzarote is 1/15,614. CONCLUSIONS: Four patients had previously undescribed mutations. The most frequently affected gene was ABCC8. Pancreatectomy was required in 20% of the patients. An insulin value of ≥6.81 µIU/mL was observed in all patients at the time of diagnosis. The incidence of CH in Gran Canaria is high.


Assuntos
Hiperinsulinismo Congênito , Hiperinsulinismo Congênito/diagnóstico , Hiperinsulinismo Congênito/epidemiologia , DNA , Humanos , Insulina , Mutação , Estudos Retrospectivos , Espanha/epidemiologia
4.
Med Clin (Barc) ; 150(3): 109-113, 2018 02 09.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-28992986

RESUMO

A vaccine has recently been approved in the EU against meningococcal serogroup B, the main cause of meningococcal disease. There is a fierce debate about the decision regarding a universal vaccination in infants older than 2 months, as recommended by the majority of scientific societies. In western Europe the only country to have included the universal vaccination is the United Kingdom, with a lower incidence of the disease than Ireland. Other countries have also adopted it, such as the Czech Republic, Cuba and certain regions of Italy. Numerous cost-effectiveness studies have been published regarding the vaccination with different assumptions, which have supported the decision not to implant the universal vaccination because it exceeds the will to pay for a health benefit. We discuss the pros and cons of the universal vaccination against meningococcal B, recommended by the Sociedad Española de Pediatría (Spanish Society of Paediatrics), which as yet has not been implemented.


Assuntos
Vacinação em Massa , Infecções Meningocócicas/prevenção & controle , Vacinas Meningocócicas , Neisseria meningitidis Sorogrupo B , Análise Custo-Benefício , Necessidades e Demandas de Serviços de Saúde , Humanos , Vacinação em Massa/economia , Infecções Meningocócicas/economia , Vacinas Meningocócicas/economia , Espanha
5.
J Pediatr Endocrinol Metab ; 27(5-6): 561-4, 2014 May.
Artigo em Inglês | MEDLINE | ID: mdl-24468607

RESUMO

BACKGROUND: Several types of mutations in the insulin receptor gene have been identified in patients with genetic syndromes of insulin resistance. PATIENT REPORT: We describe a 12-year-old girl with type A insulin resistance with hyperandrogenism, hyperinsulinemia, and diabetes mellitus but without the dysmorphic characteristic of leprechaunism or Rabson-Mendenhall syndrome. The proband's mother had hyperinsulinemia and diabetes mellitus but did not show any common clinical features of type A insulin resistance. The proband's brother also had hyperinsulinemia but manifested neither glucose intolerance nor common clinical features of type A insulin resistance. A novel heterozygous mutation, p.Asn1164Thr, of the insulin receptor gene (INSR) was identified in this family. CONCLUSION: These cases illustrate the diversity of clinical phenotypes associated with mutations of the insulin receptor gene.


Assuntos
Resistência à Insulina/genética , Receptor de Insulina/genética , Adolescente , Diabetes Mellitus Tipo 1/complicações , Síndrome de Donohue/complicações , Feminino , Teste de Tolerância a Glucose , Heterozigoto , Hormônios/sangue , Humanos , Mutação de Sentido Incorreto/genética
6.
J Pediatr Endocrinol Metab ; 20(5): 621-32, 2007 May.
Artigo em Inglês | MEDLINE | ID: mdl-17642423

RESUMO

AIMS: To assess the prevalence of impaired glucose tolerance (ITG) and diabetes mellitus (DMRCF) in a group of patients with cystic fibrosis (CF). To study clinical status-related variables and to compare age with the evolution of their carbohydrate metabolism (CHM). PATIENTS AND METHODS: Thirty patients with CF (1.5-26 years). Oral glucose tolerance test (OGTT) in 28 patients. RESULTS: Three patients (10%) showed ITG and four DMRCF (13.3%). CF patients with impaired CHM (ICHM) were older (p = 0.006), and had longer times since diagnosis and first sputum colonization (p = 0.001, p < 0.001). Homozygous deltaF508 mutation was significant (p = 0.001). Insulin peak, area under the curve for insulin, insulin resistance, insulin sensitivity, and pancreatic beta-cell function were all significant. CONCLUSIONS: ICHM was present in 23.3%. Age, time since diagnosis of CF, first sputum colonization and homozygous deltaF508 mutation were significantly associated. CHM in patients with CF is similar to that in the population without CF in the early years.


Assuntos
Metabolismo dos Carboidratos , Fibrose Cística/complicações , Fibrose Cística/epidemiologia , Diabetes Mellitus/epidemiologia , Intolerância à Glucose/epidemiologia , Intolerância à Glucose/etiologia , Adolescente , Adulto , Distribuição por Idade , Criança , Pré-Escolar , Estudos Transversais , Fibrose Cística/genética , Fibrose Cística/metabolismo , Regulador de Condutância Transmembrana em Fibrose Cística/genética , Diabetes Mellitus/etiologia , Diabetes Mellitus/genética , Feminino , Intolerância à Glucose/genética , Teste de Tolerância a Glucose , Humanos , Lactente , Resistência à Insulina , Masculino , Mutação
7.
Med Clin (Barc) ; 127(16): 612-4, 2006 Oct 28.
Artigo em Espanhol | MEDLINE | ID: mdl-17145026

RESUMO

BACKGROUND AND OBJECTIVE: To evaluate the immunity level achieved with oral polio vaccine in schoolchildren aged 6-12 years of Catalonia (Spain). SUBJECTS AND METHOD: The prevalence of antibodies against poliovirus 1, 2 and 3 was investigated using the neutralizing technique in a representative (n = 197) sample of schoolchildren aged 6-12 years of Catalonia (Spain) obtained in 2001. RESULTS: The prevalence of antibodies was 94.4% for poliovirus 1; 98.5% for poliovirus 2, y 73.1% for poliovirus 3. 93.4% of serum samples had antibodies against poliovirus 1 and 2; 70.6% against poliovirus 1 and 3, and 69.5% against poliovirus 1, 2 and 3. The prevalence of antibodies was similar in different socio-demographic groups. Schoolchildren who had been vaccinated (5 doses) had a higher level of antibodies against poliovirus 3 than those who had not completed vaccination (4 or less doses): 75.4% vs 50.0% (p < 0.05). The prevalence of antibodies against poliovirus 1 and 2 was similar in schoolchildren completing and not completing vaccination. CONCLUSIONS: Results obtained in this study show that 26.9% of schoolchildren aged 6-12 years do not have an adequate immunity level against poliovirus 3 with the oral polio vaccine, being it necessary to develop an immunization program using the inactivated polio vaccine.


Assuntos
Anticorpos Antivirais/sangue , Vacina Antipólio Oral/imunologia , Poliovirus/imunologia , Criança , Feminino , Humanos , Masculino , Vacina Antipólio Oral/administração & dosagem , Estudos Soroepidemiológicos , Espanha
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