RESUMO
BACKGROUND: An allergic reaction with increased degranulation of mast cells has been suggested as a possible mechanism in sudden infant death syndrome (SIDS). STUDY DESIGN: Mast cell releasability was assessed in 2 study groups: A, 22 subjects, 16 first-degree relatives of infants who had had an apparent life-threatening event (ALTE) and 6 infants after ALTE and B, 46 first-degree relatives of SIDS cases. These groups were compared with 71 members of an age-matched control group. In each subject the skin wheal and flare reactions were measured after an intradermal injection of 0.02 mL of each of the following substances dissolved in phenol-saline solution: histamine 0.0001 mg/mL, histamine 0.001 mg/mL, codeine 0.5 mg/mL, codeine 1 mg/mL, compound 48/80 0.05 mg/mL, compound 48/80 0. 1 mg/mL, and phenol-saline solution. The size of wheal and flare skin reaction was assessed by computerized planimetry after the shape of the cutaneous response was copied onto a paper. RESULTS: The wheal and flare skin reaction to each of the substances was significantly larger in the 2 study groups compared with the control group (P <.05) except for the wheal reaction to compound 48/80 0.1 mg/mL, codeine 0.5 mg/mL, and histamine in both concentrations for group A and the wheal reaction to codeine 1 mg/mL and histamine in both concentrations for group B. All individuals with increased reaction belonged to 3 (50%) of 6 families with ALTE history and to 8 (73%) of 11 families with SIDS history. CONCLUSIONS: Increased mast cell hyper-releasability and degranulation take place in family members of some SIDS and ALTE cases and in some infants with ALTE, supporting a possible role for an immunologic mechanism in the pathophysiology of these entities.
Assuntos
Apneia/imunologia , Mastócitos/imunologia , Morte Súbita do Lactente/imunologia , Adulto , Apneia/etiologia , Apneia/genética , Degranulação Celular/imunologia , Criança , Feminino , Humanos , Imunidade Celular , Lactente , Masculino , Mastócitos/fisiologia , Testes Cutâneos/métodos , Testes Cutâneos/estatística & dados numéricos , Estatísticas não Paramétricas , Morte Súbita do Lactente/etiologia , Morte Súbita do Lactente/genéticaRESUMO
La apnea e hipopnea son síntomas básicos de los trastornos de la función respiratoria durante el sueño, los cuales en la mayoría de las ocasiones, es díficil delimitar sus características fisioológicas y patológicas en niños. Esta revisión sobre apnea e hipopnea incluye: concepto, semiografía, semiogénesis y semiodiagnóstico (AU)
Assuntos
Humanos , Recém-Nascido , Lactente , Pré-Escolar , Criança , Apneia/genéticaRESUMO
La apnea e hipopnea son síntomas básicos de los trastornos de la función respiratoria durante el sueño, los cuales en la mayoría de las ocasiones, es díficil delimitar sus características fisioológicas y patológicas en niños. Esta revisión sobre apnea e hipopnea incluye: concepto, semiografía, semiogénesis y semiodiagnóstico
Assuntos
Humanos , Recém-Nascido , Lactente , Pré-Escolar , Criança , Apneia/genéticaRESUMO
We examined family pedigrees of children with severe breath-holding spells (SBHS). There were 57 probands (27 males, 30 females; 44 cyanotic, 13 pallid) whose families comprised 1683 individuals. We found that 31 (27%) of 114 proband parents and 9 (21%) of 43 proband siblings had current or prior SBHS. Father-to-son transmission was observed in 7 instances. There were 7 families with 2 or more affected siblings and 5 families with 3 or more affected members. From 85 nuclear families, 130 individuals had current or prior SBHS (59 males, 71 females; male/female ratio, 1:12). These data suggest that the most likely underlying genetic inheritance pattern in SBHS is an autosomal dominant trait with reduced penetrance.
Assuntos
Apneia/genética , Criança , Pré-Escolar , Doenças em Gêmeos , Feminino , Humanos , Lactente , Masculino , LinhagemAssuntos
Apneia/etiologia , Maus-Tratos Infantis , Apneia/genética , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Síndrome de Munchausen , Recidiva , Ressuscitação , Estudos RetrospectivosRESUMO
To learn whether the ventilatory responses to hypoxia (17% O2) and hypercapnea (4% CO2) differ in the subsequent siblings of sudden infant death victims (SIDS), we studied seven normal control infants, nine infants who had had a prolonged apneic spell (apneic infants), and 10 subsequent siblings of SIDS (mean ages 10.4 weeks, 15 weeks, and 10 weeks, respectively). With inhalation of 17% O2, one of seven controls, two of nine apneic infants, and seven of 10 siblings of SIDS breathed periodically (controls vs siblings, P less than 0.04). Heart rate and end-tidal PCO2 did not change, but respiratory rate decreased in the siblings (45 to 31 breaths per minute, P less than 0.001). Arousal occurred during 25% of the hypoxic challenges in the controls and apneic infants but was not seen in the siblings of SIDS (control vs siblings P less than 0.08, apneic vs siblings P less than 0.05). With inhalation of 4% CO2 there was a similar increase in estimated ventilation among the three groups. Arousal occurred 33% of the time in all three groups. Our findings show that, after 5 weeks of age, siblings of SIDS have a normal response to hypercapnea but respond to mild hypoxia with periodic breathing.