RESUMO
BACKGROUND: The level of maternal antibodies decreases more quickly in preterm than term infants, leaving them unprotected against measles. To protect premature infants from measles, an early vaccination trial was investigated. METHODS: Changes in the serum measles neutralization test (NT) antibody titer were examined in 152 infants (average gestational period, 29 weeks; average birthweight, 1203 g). RESULTS: The average antibody titer (2(n)) was 2(3.5) at birth and 2(2.2) at 1-3 months of age, and in all cases, NT antibody titer decreased to <1:4 (150 IU/mL). The AIK-C measles vaccine was given to 17 preterm infants at the age of 6 months, and induced sufficient serological responses without any serious adverse events. NT antibody level did not decay during 12 months after vaccination. CONCLUSION: Early immunization at 6 months of age is effective to protect preterm infants in the outbreak setting.
Assuntos
Doenças do Prematuro/prevenção & controle , Vacina contra Sarampo/imunologia , Vírus do Sarampo/imunologia , Sarampo/prevenção & controle , Vacinação/métodos , Anticorpos Antivirais/imunologia , Feminino , Humanos , Lactente , Recém-Nascido , Recém-Nascido Prematuro , Doenças do Prematuro/epidemiologia , Doenças do Prematuro/imunologia , Japão/epidemiologia , Masculino , Sarampo/epidemiologia , Sarampo/imunologia , Estudos Retrospectivos , Fatores de TempoRESUMO
Peters plus syndrome is a multiple malformation syndrome characterized by a combination of Peters anomaly of the eye and other extraocular defects, including short-limb dwarfism, a thin upper lip, hypoplastic columella, and a round face. Two unrelated children with the typical features of Peters plus syndrome and hypothyroidism have been previously reported in medical literature. Herein, we report a male patient who exhibited the Peters plus syndrome phenotype as well as hypothyroidism and provide further evidence that hypothyroidism may represent an under-recognized feature of Peters plus syndrome. The consanguinity of the parents in the present case supports, but does not confirm, the notion that a homozygous defect in a single autosomal recessive gene might be responsible for the normal morphogenesis of both the anterior chamber and the thyroid gland.
Assuntos
Anormalidades Múltiplas , Câmara Anterior/anormalidades , Hipotireoidismo Congênito/genética , Anormalidades do Olho/genética , Consanguinidade , Deficiências do Desenvolvimento/genética , Deficiências do Desenvolvimento/patologia , Nanismo/genética , Nanismo/patologia , Anormalidades do Olho/patologia , Face/anormalidades , Genes Recessivos , Humanos , Lactente , Masculino , SíndromeRESUMO
In order to evaluate the contribution of FBN1, FBN2, TGFBR1, and TGFBR2 mutations to the Marfan syndrome (MFS) phenotype, the four genes were analyzed by direct sequencing in 49 patients with MFS or suspected MFS as a cohort study. A total of 27 FBN1 mutations (22 novel) in 27 patients (55%, 27/49), 1 novel TGFBR1 mutation in 1 (2%, 1/49), and 2 recurrent TGFBR2 mutations in 2 (4%, 2/49) were identified. No FBN2 mutation was found. Three patients with either TGFBR1 or TGFBR2 abnormality did not fulfill the Ghent criteria, but expressed some overlapping features of MFS and Loeys-Dietz syndrome (LDS). In the remaining 19 patients, either of the genes did not show any abnormalities. This study indicated that FBN1 mutations were predominant in MFS but TGFBRs defects may account for approximately 5-10% of patients with the syndrome.