RESUMO
Infantile juvenile polyposis is a rare disease with severe gastrointestinal symptoms and a grave clinical course. Recently, 10q23 microdeletions involving the PTEN and BMPR1A genes were found in four patients with infantile juvenile polyposis. It was hypothesized that a combined and synergistic effect of the deletion of both genes would explain the condition. Subsequently, however, a patient with a larger 10q23 deletion including the same genes but with a mild clinical phenotype was identified. Here, we present four additional patients with 10q23 microdeletions involving the PTEN and BMPR1A genes. The sizes of the deletions were analyzed using single nucleotide polymorphism array analysis. All patients had macrocephaly, dysmorphic features, retardation and congenital abnormalities. One patient developed colorectal cancer. However, only one case had disease onset before 2 years of age and severe symptoms requiring colectomy. No clear correlation was found between ages at onset or severity of gastrointestinal symptoms and the sizes of the deletions. We conclude that patients with 10q23 microdeletions involving the PTEN and BMPR1A genes have variable clinical phenotypes, which cannot be explained merely by the deletion sizes. The phenotypes are not restricted to severe infantile juvenile polyposis but include childhood-onset cases with macrocephaly, retardation, mild gastrointestinal symptoms and possibly early-onset colorectal cancer.
Assuntos
Receptores de Proteínas Morfogenéticas Ósseas Tipo I/genética , Cromossomos Humanos Par 10 , Gastroenteropatias/genética , Polipose Intestinal/genética , PTEN Fosfo-Hidrolase/genética , Deleção de Sequência , Anormalidades Múltiplas/genética , Idade de Início , Pré-Escolar , Neoplasias Colorretais/etiologia , Feminino , Gastroenteropatias/complicações , Gastroenteropatias/patologia , Humanos , Lactente , Recém-Nascido , Deficiência Intelectual/genética , Polipose Intestinal/complicações , Polipose Intestinal/patologia , Masculino , Análise de Sequência com Séries de Oligonucleotídeos , FenótipoRESUMO
BACKGROUND: Even mild iron deficiency and anaemia in infancy may be associated with cognitive deficits. A delay in clamping the cord improves haematocrit levels and results in greater vascular stability and less need for packed cell transfusions for anaemia in the first period after birth. Follow-up data on haemoglobin levels after the neonatal period were not available. OBJECTIVE: To provide neonatal and follow-up data for the effects of early or delayed clamping of the cord. METHODS: 37 premature infants (gestational age 34 weeks, 0 days-36 weeks, 6 days) were randomly assigned to one of two groups in the first hour after birth, and at 10 weeks of age. In one group the umbilical cord was clamped within 30 seconds (mean (SD) 13.4 (5.6)) and in the other, it was clamped at 3 minutes after delivery. In the neonatal period blood glucose and haemoglobin levels were determined. At 10 weeks of age haemoglobin and ferritin levels were determined. RESULTS: The late cord-clamped group showed consistently higher haemoglobin levels than the early cord-clamped group, both at the age of 1 hour (mean (SD) 13.4 (1.9) mmol/l vs 11.1 (1.7) mmol/l), and at 10 weeks (6.7 (0.75) mmol/l vs 6.0 (0.65) mmol/l). No relationship between delayed clamping of the umbilical cord and pathological jaundice or polycythaemia was found. CONCLUSION: Immediate clamping of the umbilical cord should be discouraged.