RESUMEN
NALP proteins, also known as NLRPs, belong to the CATERPILLER protein family involved, like Toll-like receptors, in the recognition of microbial molecules and the subsequent activation of inflammatory and immune responses. Current advances in the function of NALPs support the recently proposed model of a disease continuum bridging autoimmune and autoinflammatory disorders. Among these diseases, hereditary periodic fevers (HPFs) are Mendelian disorders associated with sequence variations in very few genes; these variations are mostly missense mutations whose deleterious effect, which is particularly difficult to assess, is often questionable. The growing number of identified sporadic cases of periodic fever syndrome, together with the lack of discriminatory clinical criteria, has greatly hampered the identification of new disease-causing genes, a step that is, however, essential for appropriate management of these disorders. Using a candidate gene approach, we identified nonambiguous mutations in NALP12 (i.e., nonsense and splice site) in two families with periodic fever syndromes. As shown by means of functional studies, these two NALP12 mutations have a deleterious effect on NF-kappaB signaling. Overall, these data identify a group of HPFs defined by molecular defects in NALP12, opening up new ways to manage these disorders. The identification of these first NALP12 mutations in patients with autoinflammatory disorder also clearly demonstrates the crucial role of NALP12 in inflammatory signaling pathways, thereby assigning a precise function to this particular member of an emerging family of proteins whose putative biological properties are currently inferred essentially through in vitro means.
Asunto(s)
Fiebre Mediterránea Familiar/genética , Péptidos y Proteínas de Señalización Intracelular/genética , Secuencia de Aminoácidos , Secuencia de Bases , Niño , Codón sin Sentido/genética , Femenino , Humanos , Péptidos y Proteínas de Señalización Intracelular/fisiología , Masculino , Datos de Secuencia Molecular , Mutación , FN-kappa B/metabolismo , Linaje , Sitios de Empalme de ARN , Empalme del ARN/genética , Análisis de Secuencia de ADNRESUMEN
A high proportion of commercial plane passengers are children: two million fly every year on Air-France airlines. In this field, the physician can be called upon to authorize or prohibit travelling. He could take measures or offer his services at the request of the cabin staff. The authors review flight physiology and stress, their potential effects on healthy children or those with medical conditions, and their fitness to fly.
Asunto(s)
Aviación , Aptitud Física , Aviación/normas , Niño , Francia , Humanos , Estrés Fisiológico/etiologíaRESUMEN
UNLABELLED: Morganella morganii is an opportunistic gram-negative bacterium, resistant to ampicillin, and scarcely involved in early-onset neonatal sepsis. CASE REPORT: After a premature rupture of the membranes, a pregnant patient received prophylactic amoxicillin per os. She developed chorioamnionitis. Her infant was diagnosed with early-onset sepsis. Maternal and baby's blood cultures grew M. morganii. Both the mother and the infant were successfully treated with a third-generation cephalosporin and an aminoglycoside. DISCUSSION: The influence of a prior antibiotherapy on the emergence of M. morganii vertical infections is discussed.
Asunto(s)
Profilaxis Antibiótica , Corioamnionitis/complicaciones , Infecciones por Enterobacteriaceae/tratamiento farmacológico , Morganella morganii/patogenicidad , Administración Oral , Adulto , Aminoglicósidos/uso terapéutico , Amoxicilina/uso terapéutico , Cefalosporinas/uso terapéutico , Infecciones por Enterobacteriaceae/transmisión , Femenino , Rotura Prematura de Membranas Fetales/complicaciones , Humanos , Recién Nacido , Enfermedades del Recién Nacido , Penicilinas/uso terapéutico , Embarazo , Sepsis/etiologíaRESUMEN
INTRODUCTION: Even today screening for congenital syphilis must be performed and confirmed by appropriate serological tests and bacteriological samples. OBSERVATION: A newborn presented with an apparently materno-fetal or viral fetal disease. It was in fact congenital syphilis. The mother exhibited no risk factors for syphilis. Systematic serological search for syphilis was negative in the mother at 11 weeks of amenorrhea. No signs of primary or secondary syphilis had been observed during pregnancy. At twenty-nine weeks of amenorrhea, the mother presented a menace of preterm delivery and no tocolysis at 31 weeks. Examination of the newborn revealed clinical signs of aterno-fetal infection, without specificorientation. Initial bacteriological and virological analyses were negative. Screening for specific Treponema pallidum M-type immunoglobulines (IgM) on the 9th day of life, confirmed the diagnosis of congenital syphilis. COMMENTS: Diagnosis of congenital syphilis must not be eliminated during early serological screening: clinical suspicion must lead to further anamnesis again and serological tests both in the newborn and the mother.