Assuntos
Síndrome do Hamartoma Múltiplo , Síndrome de Proteu , Terminologia como Assunto , Atitude do Pessoal de Saúde , Diagnóstico Diferencial , Síndrome do Hamartoma Múltiplo/diagnóstico , Síndrome do Hamartoma Múltiplo/genética , Humanos , PTEN Fosfo-Hidrolase/genética , Síndrome de Proteu/diagnóstico , Síndrome de Proteu/genéticaRESUMO
A 3-year-old boy with Proteus syndrome has a novel germline p.Y68D mutation of the PTEN gene inherited from his mother who has Cowden syndrome. In addition, DNA extracted from curettings of his widespread epidermal naevus shows loss of heterozygosity for this mutation. To our knowledge, this has not been described before.
Assuntos
Perda de Heterozigosidade , Nevo Pigmentado/genética , PTEN Fosfo-Hidrolase/genética , Síndrome de Proteu/genética , Neoplasias Cutâneas/genética , Pré-Escolar , Mutação em Linhagem Germinativa , Humanos , Masculino , Nevo Pigmentado/patologia , Linhagem , Neoplasias Cutâneas/patologiaRESUMO
In the five years since its launch in March 1998, NHS Direct in England and Wales has established itself as the world's largest provider of telephone healthcare advice. NHS Direct now handles over half a million telephone calls and NHS Direct Online half a million on-line transactions every month. Consistently 30-40% of calls to the telephone service are about children.
Assuntos
Serviços Médicos de Emergência/organização & administração , Linhas Diretas/organização & administração , Consulta Remota/organização & administração , Medicina Estatal/organização & administração , Criança , Serviços de Saúde da Criança/organização & administração , Prioridades em Saúde , Humanos , Reino UnidoRESUMO
A case of a boy with only half the complement of normal teeth and taurodontism is reported in association with Klinefelter syndrome (47 XXY).
Assuntos
Anodontia/patologia , Síndrome de Klinefelter/complicações , Anodontia/complicações , Criança , Humanos , Síndrome de Klinefelter/genética , Masculino , Dente Molar/anormalidades , Dente não Erupcionado/patologiaRESUMO
Four infants were seen on six separate occasions with febrile illnesses associated with a bulging anterior fontanelle and irritability. They had signs of a transient form of intracranial hypertension.
Assuntos
Pseudotumor Cerebral/etiologia , Feminino , Febre/complicações , Humanos , Lactente , Humor Irritável , MasculinoRESUMO
Teenage sisters were found to have hereditary spherocytosis when they presented in aplastic crisis associated with otherwise asymptomatic parvovirus infection. Such patients may present a source of cross-infection to others at risk.
Assuntos
Infecções por Parvoviridae/complicações , Esferocitose Hereditária/genética , Adolescente , Anemia Aplástica/etiologia , Anemia Aplástica/genética , Feminino , Humanos , Esferocitose Hereditária/complicações , Esferocitose Hereditária/diagnósticoRESUMO
A 6 week old girl from a socially isolated family presented with seizures and was found to have a full fontanelle, retinal and subhyaloid haemorrhages, and anaemia. These findings were not the result of a shaking injury but of a ruptured intracerebral arterial aneurysm.
Assuntos
Aneurisma Intracraniano/complicações , Hemorragia Retiniana/etiologia , Hemorragia Vítrea/etiologia , Hemorragia Cerebral/diagnóstico , Hemorragia Cerebral/etiologia , Maus-Tratos Infantis , Diagnóstico Diferencial , Feminino , Hematoma/etiologia , Humanos , Lactente , Ruptura EspontâneaRESUMO
We describe a simple method of determining weight loss and hence water loss of infants in incubators. Unlike previously reported methods, it does not interfere with the microenvironment surrounding the infant. Weight loss of 16 term and 32 preterm infants was measured in both forced and natural convection. No significant increase in water loss was observed in the term infants but in the preterm infants the mean loss in natural convection was 0.85 g/kg/hour compared with 1.26 g/kg/hour in forced convection: in the most extreme situation it was doubled. This water loss represents a substantial energy loss and suggestions to minimise it are discussed.
