[Peutz-Jeghers syndrome]. / Síndrome de Peutz-Jeghers.

Peutz-Jeghers syndrome is an inherited disorder which usually debuts during childhood. It is characterized by mucocutaneous pigmentation and hamartomatous polyps in the gastrointestinal tract. Numerous reports indicate a high incidence of gastrointestinal and extraintestinal cancer in these patients, their appearance at a young age, as well as its association with ovarian and testicular tumors. An aggressive approach of these patients seems to be necessary. We report the case of two brothers suffering from Peutz-Jeghers syndrome whose father and grandfather died as a consequence of the progression of an intestinal cancer related to the syndrome.

Infección del tracto urinario por Shigella sonnei / Urinary tract infection caused by Shigella sonnei

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[Incidence of diabetes mellitus and prevalence of type 1A diabetes mellitus in children younger than 16 years old from the province of Ciudad Real]. / Incidencia en menores de 16 años y prevalencia de la diabetes mellitus tipo 1A en la provincia de Ciudad Real.

BACKGROUND: Because of the lack of data from our province, we performed the present study to determine the current situation and future evolution in our region of the most frequent chronic disease in childhood. OBJECTIVE: To evaluate the incidence of diabetes mellitus and the prevalence of type 1A diabetes mellitus in children younger than 16 years old from the province of Ciudad Real. MATERIAL AND METHODS: We performed an epidemiological, cross-sectional, observational study. The mark-release-recapture method was used to calculate exhaustivity. The patients were selected through surveys to primary care centers, hospital registries and diabetics associations in our province. All type 1A diabetics were included in the calculation of prevalence. Only diabetics with onset of symptoms in 1999 were included in the calculation of incidence. RESULTS: The incidence of diabetes mellitus in children younger than 16 years old was 26 per 100,000. Twenty-three children were diagnosed with the disease, with an exhaustivity rate of 88.5 %. The prevalence of type 1A diabetes mellitus in children younger than 16 years old was 2.1 per 1,000 and 0.42 per 1,000 inhabitants. The prevalence in the general population was 0.88 per 1,000 inhabitants. CONCLUSIONS: The incidence of diabetes mellitus in children younger than 16 years old and the prevalence of type 1A diabetes mellitus in the province of Ciudad Real are higher than expected and are the highest of currently known rates in Spain.

Incidencia en menores de 16 años y prevalencia de la diabetes mellitus tipo 1A en la provincia de Ciudad Real / Incidence of diabetes mellitus and prevalence of type 1a diabetes mellitus in children younger than 16 years old from the province of Ciudad Real (spain)

Antecedentes: Al carecer de estudios previos en nuestra provincia sobre diabetes mellitus tipo 1A se realizó el presente trabajo para conocer el estado actual en nuestro medio, y valorar en el futuro, la evolución de la enfermedad crónica más frecuente en la infancia. Objetivos: Determinar la prevalencia de la diabetes mellitus tipo 1 (DM1A) y la incidencia en menores de 16 años en la provincia de Ciudad Real. Material y métodos: Se trata de un estudio epidemiológico, observacional de tipo transversal. Se utilizó el método captura-marcaje-recaptura para el cálculo de la exhaustividad. Los pacientes se recogieron mediante encuesta en centros de salud, registros hospitalarios y asociaciones de diabéticos de la provincia. Para el cálculo de la prevalencia se incluyeron todos los diabéticos tipo 1A y para el cálculo de la incidencia se incluyen aquellos diabéticos en los que la enfermedad se inició en 1999. Resultados: La incidencia de diabetes mellitus en menores de 16 años ha sido de 26,0/100.000; se detectaron 23 niños, con una tasa de exhaustividad del 88,5%. La prevalencia de la DM1 en menores de 16 años es de 2,1/1.000 y de 0,42/1.000 habitantes de la provincia. En la población general la prevalencia es de 0,88/1.000 habitantes. Conclusiones: La incidencia de la diabetes mellitus en menores de 16 años y la prevalencia de la DM1A en la provincia de Ciudad Real es mayor de la esperada, siendo la mayor de las conocidas en España en la actualidad (AU)

[Permanent neonatal diabetes associated with other anomalies]. / Diabetes neonatal permanente asociada ahipotiroidismo, sordera y rasgos dismórficos.

Neonatal diabetes mellitus is defined as hyperglycemia detected in the first month of life of more than 2 weeks' duration, requiring insulin treatment. It is extremely uncommon (1/500,000 neonates) and is permanent in only 30% of cases. Several hypotheses concerning its etiology have been postulated, such as pancreatic immaturity, paternal uniparental isidisomy of chromosome 6, and the existence of a gene located in the 6 q 22-23 chromosome region subjected to imprinting and exclusively of paternal expression. The management of these patients is usually difficult. These neonates are underweight for their gestational age, and neither anti-insulin antibodies nor anti-islets are detected. We studied a neonate hospitalized because of low weight for his gestational age with dimorphic features and hyperglycemia since the 17 th day of life. Clinical and anatomical follow-up has been periodically performed to the present date. The child presents permanent neonatal diabetes with negative antibodies. Although various insulin patterns have been used since the onset of the syndrome, management remains difficult. The child presents hypothyroidism, bilateral neurosensory deafness, bilateral congenital cataract, myopia, dimorphic features, congenital stridor and slow weight-stature curve. The results of muscle biopsy and metabolic studies were normal. Wolfram's syndrome and mitochondrial diabetes were ruled out. This is an exceptional case of permanent neonatal diabetes associated with other malformations corresponding to no known syndromic patterns.

Diabetes neonatal permanente asociada ahipotiroidismo, sordera y rasgos dismórficos / Permanent neonatal diabetes associated with other anomalies

La diabetes mellitus neonatal se define como una hiperglucemia detectada durante el primer mes de vida, de más de 2 semanas de duración, que precisa tratamiento con insulina. Es muy rara (1/500.000 recién nacidos) y sólo el 30% de los casos es permanente. Se han postulado varias hipótesis sobre su etiología, tales como inmadurez pancreática, isodisomía del cromosoma 6 paterno o la existencia de un gen localizado en la región cromosómica 6 q 22-23 sometido a impregnación y de expresión exclusivamente paterna. Se caracterizan por ser pacientes de difícil tratamiento, bajo peso para su edad gestacional y no se detectan anticuerpos antiinsulina ni antiislotes. Se ha estudiado un recién nacido ingresado por bajo peso para la edad gestacional con rasgos dismórficos e hiperglucemia desde el día 17 de vida. Se realiza el seguimiento clínico y analítico periódico hasta la actualidad, en el que se ha observado se trata de una diabetes neonatal permanente con anticuerpos negativos, y de difícil tratamiento a pesar de utilizar diversas pautas insulínicas desde el inicio del cuadro, hipotiroidismo, sordera neurosensorial bilateral, catarata congénita bilateral, miopía, rasgos dismórficos, estridor congénito y curva ponderostatural lenta. El estudio de biopsia muscular y metabólico fue normal. Se descartó un síndrome de Wolfram y una diabetes mitocondrial. Se trata de un caso excepcional de diabetes neonatal permanente asociado a otras malformaciones no encuadrable dentro de un patrón sindrómico conocido (AU)

[Rheumatic fever: clinical and therapeutic aspects]. / Fiebre reumática: aspectos clínicos y terapéuticos.

From 1974 to 1987 we have diagnosed thirty three patients with rheumatic fever. The age of onset ranged from three to sixteen years with a mean age of nine years and six months. Carditis was the most frequent major criteria (27/33) followed by arthritis (14/33) and Sydenham's chorea (6/33). All the patients with carditis had the mitral valve affected. The usual treatment in the acute phase was penicillin and aspirin. The prophylaxis recommended to the patients was penicillin G benzatine every 21 days if they had carditis and every 28 days if they didn't. Two patients allergic to penicillin are receiving erythromycin. We have observed that the incidence of rheumatic fever has remained unchanged that the age of onset increased and that the antiinflammatory drug of choice in most patients with carditis is aspirin.