A. Noguera Julián

Recomendaciones de la Sociedad Española de Infectología Pediátrica para el seguimiento del niño expuesto al virus de la inmunodeficiencia humana y a fármacos antirretrovirales durante el embarazo y el periodo neonatal

Human immunodeficiency virus vertical transmission in developed countries has dramatically decreased to less than 2% over the last 15 years due to the consecutive implementation of different prophylactic measures, including the use of antiretrovirals, elective cesarean section and refraining from breastfeeding. The follow-up of these otherwise healthy children is, by far, the most common situation related to HIV infection that general pediatricians currently face in routine clinical care in Spain. These recommendations issued by the Spanish Society of Pediatric Infectious Diseases attempt to summarize the main aspects of this follow-up, including birth management, type of feeding, neonatal antiretroviral prophylaxis, HIV infection diagnosis, common early comorbidities, short- and mid-term toxicities, vaccination and other prophylactic measures and long-term follow-up.

Sindrome de Griscelli-Prunieras: a proposito de dos casos

Griscelli-Prunieras syndrome (GS) is a rare autosomal recessive disorder characterized by partial albinism. His pathogenic mechanism is associated with defects in the packaging of melanin and other cellular proteins. GS is classified into 3 types based on the genetic and molecular features. Mutations in the genes which cause GS are known. We report two first cases described in Spain who presented a silver-gray sheen of the hair and a severe immune disorder. They were studied for mutations principally related to this syndrome. Two patients showed the Rab27a mutation (frequently associated with GS2). The natural disorder evolution differs considerably among the various forms, so a genetic study is essential in GS to achieve the most accurate prognosis and treatment possible.Griscelli-Prunieras syndrome (GS) is a rare autosomal recessive disorder characterized by partial albinism. His pathogenic mechanism is associated with defects in the packaging of melanin and other cellular proteins. GS is classified into 3 types based on the genetic and molecular features. Mutations in the genes which cause GS are known. We report two first cases described in Spain who presented a silver-gray sheen of the hair and a severe immune disorder. They were studied for mutations principally related to this syndrome. Two patients showed the Rab27a mutation (frequently associated with GS2). The natural disorder evolution differs considerably among the various forms, so a genetic study is essential in GS to achieve the most accurate prognosis and treatment possible.

Guía de la Sociedad Española de Infectología Pediátrica sobre tuberculosis en la embarazada y el recién nacido (I): epidemiología y diagnóstico. Tuberculosis congénita

Tuberculosis (TB) screening in pregnancy using tuberculin skin test (TST) is recommended in case of symptoms of TB disease, close contact with a patient with infectious TB, or high risk of developing active disease. The new interferon gamma release assay (IGRA) tests are recommended in BCG-vaccinated pregnant women with positive TST and no known risk factors for TB, and in those immunocompromised, with clinical suspicion of TB but negative TST. TB diagnosis is difficult due to the non-specific symptoms, the increased frequency of extrapulmonary disease, the delay in radiological examinations, and the high rate of tuberculin anergy. Neonatal TB can be acquired in utero (congenital TB), or through airborne transmission after delivery (postnatal TB). Congenital TB is extremely rare and does not cause fetal malformations. It may be evident at birth, although it usually presents after the second week of life. In newborns with no family history of TB, the disease should be considered in cases of miliary pneumonia, hepatosplenomegaly with focal lesions, or lymphocytic meningitis with hypoglycorrhachia, especially in those born to immigrants from high TB-burden countries. TST is usually negative, and IGRAs have lower sensitivity than in older children. However, the yield of acid-fast smear and culture is higher, mostly in congenital TB. Molecular diagnosis techniques enable early diagnosis and detection of drug resistance mutations. There is a substantial risk of disseminated disease and death.

Guía de la Sociedad Española de Infectología Pediátrica sobre tuberculosis en la embarazada y el recién nacido (ii): profilaxis y tratamiento

In pregnant women who have been exposed to tuberculosis (TB), primary isoniazid prophylaxis is only recommended in cases of immunosuppression, chronic medical conditions or obstetric risk factors, and close and sustained contact with a patient with infectious TB. Isoniazid prophylaxis for latent tuberculosis infection (LTBI) is recommended in women who have close contact with an infectious TB patient or have risk factors for progression to active disease. Otherwise, it should be delayed until at least three weeks after delivery. Treatment of TB disease during pregnancy is the same as for the general adult population. Infants born to mothers with disseminated or extrapulmonary TB in pregnancy, with active TB at delivery, or with postnatal exposure to TB, should undergo a complete diagnostic evaluation. Primary isoniazid prophylaxis for at least 12 weeks is recommended for those with negative diagnostic tests and no evidence of disease. Repeated negative diagnostic tests are mandatory before interrupting prophylaxis. Isoniazid for 9 months is recommended in LTBI. Treatment of neonatal TB disease is similar to that of older children, but should be maintained for at least 9 months. Respiratory isolation is recommended in congenital TB, and in postnatal TB with positive gastric or bronchial aspirate acid-fast smears. Separation of mother and infant is only necessary when the mother has received treatment for less than 2 weeks, is sputum smear-positive, or has drug-resistant TB. Breastfeeding is not contraindicated, and in case of mother-infant separation expressed breast milk feeding is recommended.

Original BreveSíndrome de Griscelli-Prunieras: a propósito de dos casosGriscelli-Prunieras syndrome: report of two cases

Griscelli-Prunieras syndrome (GS) is a rare autosomal recessive disorder characterized by partial albinism. His pathogenic mechanism is associated with defects in the packaging of melanin and other cellular proteins. GS is classified into 3 types based on the genetic and molecular features. Mutations in the genes which cause GS are known. We report two first cases described in Spain who presented a silver-gray sheen of the hair and a severe immune disorder. They were studied for mutations principally related to this syndrome. Two patients showed the Rab27a mutation (frequently associated with GS2). The natural disorder evolution differs considerably among the various forms, so a genetic study is essential in GS to achieve the most accurate prognosis and treatment possible.Griscelli-Prunieras syndrome (GS) is a rare autosomal recessive disorder characterized by partial albinism. His pathogenic mechanism is associated with defects in the packaging of melanin and other cellular proteins. GS is classified into 3 types based on the genetic and molecular features. Mutations in the genes which cause GS are known. We report two first cases described in Spain who presented a silver-gray sheen of the hair and a severe immune disorder. They were studied for mutations principally related to this syndrome. Two patients showed the Rab27a mutation (frequently associated with GS2). The natural disorder evolution differs considerably among the various forms, so a genetic study is essential in GS to achieve the most accurate prognosis and treatment possible.

Réplica a: Recomendaciones de vacunación con BCG en niños con infección tuberculosa latente

Canadian Immunization Guide Public Health Agency of Canada (Canadá, 2012) Sí http://www.phacaspc.gc.ca/publicat/ciggci/p04-bcg-eng.php Immunisation Guidelines for Ireland. Chapter 22-Tuberculosis National Immunisation Office (Irlanda, 2014) Sí http://www.hse.ie/eng/ health/immunisation/ hcpinfo/guidelines/chapter22.pdf The Australian Immunisation Handbook Australian Government. Department of Health. (Australia, 2014) Sí http://www.immunise.health.gov.au/ internet/immunise/publishing.nsf/ Content/7B28E87511E08905CA257 D4D001DB1F8/

PReS-FINAL-2265: Tuberculosis in pediatric patients who are receiving anti-TNF agents

File/handbook

Síndrome de Miller Fisher en la edad pediátrica: descripción de 3 casos

Adult patients receiving anti-TNFα treatment are at increased risk for developing tuberculosis (TB). Few data have been published in the pediatric population.