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991.
V Ramesh R Mountford HM Kingston A Kelsey MJ Noronha MA Clarke 《Archives of disease in childhood》1993,69(4):453-454
A boy with Duchenne muscular dystrophy and facial dysmorphism in conjunction with Klinefelter's genotype 47XXY is presented; this is an unusual situation with two genetic errors evolving over two generations. Karyotyping should be considered in boys with Duchenne muscular dystrophy who have unusual features. 相似文献
992.
Interleukin (IL)-1 and IL-2 may participate in the systemic inflammatory response and hypergammaglobulinaemia observed in patients with cystic fibrosis. Thirty seven patients with cystic fibrosis were compared with 25 normal controls. High IgG and IgM concentrations were associated with more severe pulmonary disease. IL-1 alpha and soluble IL-2 receptor concentrations were higher in the cystic fibrosis group than in the controls and also correlated with concentrations of IgG and IgM. These results suggest that these cytokines may contribute to enhanced immunoglobulin synthesis and silent inflammatory activity in clinically stable patients with cystic fibrosis. 相似文献
993.
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995.
Thirty-eight infants and young children with gastroenteritis were investigated for lactose malabsorption. Each of them was given an oral lactose load of either 0.5 g/kg or 2 g/kg after which breath hydrogen excretion was measured, and each was observed to see if he had clinical symptoms of lactose intolerance. Only one patient, given 2 g/kg lactose, had clinical intolerance. His breath hydrogen excretion however was negative. Three of 18 patients given 0.5 g/kg lactose had positive breath hydrogen tests. None of these was symptomatic. Lactose intolerance in gastroenteritis was rare in our study, and the hydrogen breath test was not an appropriate technique for detecting it. 相似文献
996.
Jenner MJ Micallef IN Rohatiner AZ Kelsey SM Newland AC Cavenagh JD 《Medical oncology (Northwood, London, England)》2000,17(4):333-336
A 36-year-old man underwent matched unrelated donor bone marrow transplantation for chronic myeloid leukaemia. He developed
severe hepatic veno-occlusive disease as an early post-transplant complication. Tissue plasminogen activator was initially
felt to be contraindicated since the patient had concomitant pericarditis. Defibrotide was therefore commenced as treatment
for veno-occlusive disease. The pericarditis improved but the veno-occlusive disease continued to worsen (peak bilirubin 353
μmol/I). Tissue plasminogen activator followed by a heparin infusion was therefore administered. However, he proceeded to
develop haemorrhagic cardiac tamponade that required drainage. Thrombolysis was therefore discontinued and treatment with
defibrotide resumed after an interval of 48 h. The veno-occlusive disease gradually resolved and defibrotide was discontinued
once the bilirubin had plateaued. He was discharged home on day +52 post-transplant. 相似文献
997.
A retrospective study was made of 30 children with Leber's amaurosis (congenital retinal blindness). 24 presented with severe visual impairment, typical ophalmological findings, and absent electroretinograms. 6 other children, though presenting with marked visual loss and absent electroetinograms were later shown to be less severely affected. Some of the more severely affected children had associated neurodevelopmental or renal abnormalities. 相似文献
998.
A formula is given, allowing a value for total body fat to be calculated from skinfold thickness measurements at two sites (subscapular and triceps), in conjunction with nine body dimensions. For newborn infants total body fat so calculated accorded satisfactorily with published data from cadaver analyses. The formula has been tentatively applied to infants up to the age of 40 weeks, and to preterm infants. The difference between the growth of male and female infants was analysed in a series of 27 normal infants; the greater growth of musculoskeletal tissue in the male contrasted with the relatively greater growth of fat tissue in the female. 相似文献
999.
Three newborn infants with meningitis due to Flavobacterium meningosepticum were treated with rifamycin administered parenterally and directly into the cerebral ventricles. Antibiotic concentrations of blood and cerebrospinal fluid (CSF) were monitored during treatment. There was rapid sterilization of the CSF after this antibiotic. Jaundice was the only toxicity noted. All 3 infants developed hydrocephalus and are shunt dependent. Two of them are otherwise free of neurological complications and are developing normally. Rifamycin is a safe and effective antibiotic in this form of neonatal meningitis. 相似文献
1000.
Magnetic resonance (MR) imaging was compared with computed tomography (CT) in 13 children with mediastinal abnormalities. CT and MR provided comparable information regarding the presence and size of the mediastinal lesions. The MR imaging technique that was most reliable in detecting a mass was a T1-weighted spin-echo pulse sequence. MR better discriminated mediastinal masses and enlarged nodes from vascular structures and was more sensitive than CT in detecting intraspinal extension. However, CT demonstrated calcification and bronchial abnormalities not seen on MR images. It is concluded that MR may be more helpful than CT in evaluating posterior mediastinal tumors, since there is a likelihood of intraspinal extension. In other cases, however, CT continues to be the procedure of choice to supplement plain radiography in children with suspected mediastinal neoplasms. 相似文献