Assuntos
Doença de Lyme/complicações , Pseudotumor Cerebral/complicações , Criança , Feminino , HumanosRESUMO
This study links a midfacial anomaly in an 8-year-old boy, with underlying bony skull defects and abnormalities of the cerebral vasculature, with an earlier spontaneous miscarriage and the subsequent birth of a frankly anencephalic sibling. We believe that the midfacial and vascular anomalies in the second child could represent a forme fruste of anencephaly, which should alert the physician to monitor subsequent pregnancies for the complete anencephalic phenotype.
Assuntos
Anormalidades Múltiplas/genética , Anencefalia/genética , Encéfalo/irrigação sanguínea , Crânio/anormalidades , Artérias/anormalidades , Criança , Humanos , MasculinoRESUMO
A patient with Menkes' kinky hair syndrome was treated with oral CuSO4. Plasma copper, ceruloplasmin, red cell copper, and 24-hr urine copper excretion remained essentially unchanged. Intravenous copper infusion resulted in a rise of serum ceruloplasmin. During administration of a test meal of 64Cu(NO3)2, the patient was given alternately a volume of 0.9% NaCl or an equal volume of plasma intravenously. Radioactivity found in the blood was unchanged after each infusion period. During 427 days of subcutaneous copper, plasma p-phenylenediamine oxidase activity and plasma copper rose toward normal. Subsequent balance studies showed that the patient was in negative copper balance because of large losses in feces. Scanning electron microscopy demonstrated persistent pili torti.
Assuntos
Encefalopatias Metabólicas/metabolismo , Cobre/metabolismo , Síndrome dos Cabelos Torcidos/metabolismo , Cobre/administração & dosagem , Cobre/uso terapêutico , Feminino , Humanos , Lactente , Recém-Nascido , Injeções Intravenosas , Masculino , Síndrome dos Cabelos Torcidos/tratamento farmacológico , Microscopia Eletrônica de Varredura , Fatores de TempoRESUMO
Rats were exposed to carbon monoxide, and conduction velocity of ventral caudal nerve (VCN), visual cortical evoked potential (VEP), electroencephalogram, and vital functions were determined in relation to the degree of CO-induced hypoxia. The conduction velocity of VCN and VEP (latency of P2 [second positive deflection of the visual evoked response]) were unaffected until carboxyhemoglobin (COHb) levels reached between 60% and 70%. These levels were maintained for approximately one hour before decreased conduction velocity or increased latency of P2 occurred. Decrease in mean arterial blood pressure resulted in impaired neurological function. Recovery of conduction velocity was discontinuous. Conduction was lost and recovered again within a three-hour period after exposure. It decreased again 9 to 13 days later, recovering in approximately four days. Data on P2 latency after exposure were fragmentary, but suggest that later increases might occur. Similar effects of CO-induced hypoxia on peripheral and central nervous systems were found. Decrease of mean arterial blood pressure was consistently associated with impaired nervous system function.
