Role of the SARS-CoV-2 virus in the appearance of new onset type 1 diabetes mellitus in children in Gran Canaria, Spain.

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.

Hiperinsulinismo congénito en Gran Canaria / Congenital hyperinsulinism in Gran Canaria, Canary Isles

Introducción: El hiperinsulinismo congénito (HC) es una patología seria caracterizada por la aparición de hipoglucemias graves. Las mutaciones patogénicas en los genes ABCC8 y KCNJ11 son la causa más frecuente, aunque también se han descrito en otros (GCK, GLUD1, HADH, HNF1A, HNF4A, SLC16A1, UCP2, HK1) y asociado a diferentes síndromes. Material y métodos: Revisión retrospectiva de los pacientes con diagnóstico de HC en nuestra unidad durante los últimos 18años (2001-2018). El análisis genético incluyó un cribado de 11genes en ADN genómico a partir de sangre periférica (ABCC8, GCK, GLUD1, HADH, HNF1A, HNF4A, INSR, KCNJ11, SLC16A1, UCP2, SLC25A15). Objetivos: Realizar una caracterización clínica y genética de los casos diagnosticados de HC en nuestro medio. Resultados: Desde 2001 hemos tenido 10casos de HC persistente. Siete presentaron mutaciones en el gen ABCC8, uno en el gen HNF4α y en dos pacientes no se encontraron mutaciones patogénicas en los genes analizados. Cuatro pacientes presentaron mutaciones no descritas previamente. Se recurrió a la pancreatectomía en dos de los casos. El valor mínimo de insulina detectado en hipoglucemia fue de 6,81μUI/ml. La incidencia de HC persistente para Gran Canaria y Lanzarote es de 1/15.614. Conclusiones: Cuatro pacientes presentaron mutaciones no descritas. El gen más frecuentemente afectado fue ABCC8. El 20% de los pacientes requirieron pancreatectomía. En todos los pacientes se objetivó un valor de insulina ≥6,81μUI/ml en el momento del diagnóstico. La incidencia de HC en Gran Canaria es elevada. (AU)

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 18years (2001-2018). Genetic analysis included screening for 11genes 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 10cases of persistent CH 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 6.81μIU/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 ≥6.81μIU/ml was observed in all patients at the time of diagnosis. The incidence of CH in Gran Canaria is high. (AU)

Congenital hyperinsulinism in Gran Canaria, Canary Isles.

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.

Hipoplasia adrenal congénita ligada al cromosoma X: mutación missense de novo en el gen DAX-1 / X-linked adrenal hypoplasia congenita: Novel missense mutation of DAX-1 gene

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Pros y contras de la vacunación frente a la enfermedad por meningococo B / Pros and cons of vaccination against serogroup B meningococcal disease

Se ha aprobado recientemente en la UE una vacuna frente al meningococo serogrupo B, principal causante de enfermedad meningocócica. Existe una fuerte discusión sobre la decisión de una vacunación universal en niños mayores de 2 meses, recomendada por la mayoría de las sociedades científicas. En Europa occidental el único país que ha incluido la vacunación universal ha sido el Reino Unido, con una incidencias inferior de la enfermedad a la de Irlanda. Otros países también la han adoptado, como Chequia, Cuba o ciertas regiones de Italia. Se han publicado numerosos estudios de coste-efectividad sobre la vacunación con asunciones diferentes, que han sustentado la decisión de no implantar la vacunación universal al superar la voluntad de pagar por un beneficio de salud. Se discuten los pros y contras de la vacunación universal frente al meningococo B, recomendada por la Sociedad Española de Pediatría, y que no se ha implantado aún (AU)

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 (AU)

Pros and cons of vaccination against serogroup B meningococcal disease. / Pros y contras de la vacunación frente a la enfermedad por meningococo B.

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.

Identification of a novel insulin receptor gene heterozygous mutation in a patient with type A insulin resistance syndrome.

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.

Carbohydrate metabolism changes in cystic fibrosis.

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.

[Evaluation of the immunity level achieved with the oral polio vaccine in schoolchildren aged 6 to 12 years of Catalonia (Spain)]. / Evaluación del grado de protección inmunitaria conseguida con la vacuna oral antipoliomielítica en la población infantil de 6-12 años de Cataluña.

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.

Evaluación del grado de protección inmunitaria conseguida con la vacuna oral antipoliomielítica en la población infantil de 6-12 años de Cataluña / Evaluation of the immunity level achieved with the oral polio vaccine in schoolchildren aged 6 to 12 years of Catalonia (Spain)

Fundamento y objetivo: Evaluar el grado de protección inmunitaria conseguida con la vacuna oral antipoliomielítica en la población escolar de 6-12 años de Cataluña. Sujetos y método: Se ha investigado la prevalencia de anticuerpos frente al virus de la polio 1, 2 y 3 mediante la técnica de seroneutralización en una muestra representativa (n = 197) de la población escolar de 6-12 años de Cataluña obtenida en el año 2001. Resultados: Se obtuvo una prevalencia de anticuerpos del 94,4% para el virus de la polio 1, del 98,5% para el virus de la polio 2 y del 73,1% para el virus de la polio 3. El 93,4% de las muestras estudiadas presentaba un grado protector de anticuerpos frente al virus de la polio 1 y 2; el 70,6% frente al virus de la polio 1 y 3, y el 69,5% frente al virus de la polio 1, 2 y 3. Ninguna variable sociodemográfica se asociaba con la prevalencia de anticuerpos. La prevalencia de anticuerpos frente al virus de la polio 3 fue significativamente mayor en los escolares que habían completado la vacunación (5 dosis) que en los que no la habían completado (4 dosis o menos): el 75,4 frente al 50,0% (p < 0,05). La prevalencia de anticuerpos frente al virus de la polio 1 y 2 fue similar en los escolares que habían completado la vacunación y en los que no la habían completado. Conclusiones: Los resultados de este estudio muestran que el 29,6% de la población escolar de 6-12 años no presenta anticuerpos frente al poliovirus 3 con la vacuna oral antipoliomielítica, por lo que es necesario desarrollar un programa de vacunación con la vacuna de la polio inactivada

Background and objetive: 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

Resultados del tratamiento antituberculoso en seis comunidades autónomas españolas / Results of anti-tuberculosis treatment in six autonomous regions in Spain

FUNDAMENTO: Analizar los resultados del tratamiento antituberculoso. PACIENTES Y MÉTODO: Se realizó un estudio de cohortes retrospectivo en 6 comunidades autónomas (CCAA), Asturias, Cataluña, Galicia, La Rioja, Murcia y País Vasco, utilizando la cohorte de casos iniciales de tuberculosis identificados a través del PMIT que no se encontraran en prisión en el momento del diagnóstico (abril 1996-mayo 1997). La información se obtuvo de la historia clínica, y se siguieron las definiciones y normas para el análisis recomendadas para Europa. RESULTADOS: Cumplieron los criterios de inclusión en el estudio un total de 4.899 enfermos tuberculosos, de los que 4.240 (86,6 por ciento) tenían información suficiente en la historia clínica para conocer el resultado del tratamiento. Se constató un resultado satisfactorio en 3.417 pacientes (69,7 por ciento), 438 (8,9 por ciento) murieron antes de iniciar el tratamiento o durante su transcurso y 1.044 (21,4 por ciento) cumplieron la definición de resultado potencialmente insatisfactorio. Se hallaron variaciones importantes por CCAA y también según nacionalidad, grupo de edad, infección por el VIH, uso de drogas por vía parenteral, antecedentes de alcoholismo y localización de la enfermedad. CONCLUSIONES: De acuerdo a la información obtenida en este estudio, los resultados del tratamiento antituberculoso en las áreas analizadas no alcanzan los niveles recomendados por la Organización Mundial de la Salud (OMS) para lograr un control efectivo de la enfermedad. Sería preciso, por tanto, analizar las causas y plantear medidas para mejorar la situación (AU)