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31.
PR Evans 《Archives of disease in childhood》1977,52(8):664-666
Four hypomelic children of abnormally short stature had slight intellectual defect, melanotic skin, and some facial features in common. 3 were followed to the age of 23-26 years, and they remained small and pigmented. 相似文献
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Cloning and expression of the gene involved in Sanfilippo B syndrome (mucopolysaccharidosis III B) 总被引:4,自引:1,他引:4
Sanfilippo B syndrome is caused by a deficiency of alpha-N-
acetylglucosaminidase, a lysosomal enzyme involved in the degradation of
heparan sulphate. Accumulation of the substrate in lysosomes results in
degeneration of the central nervous system with progressive dementia often
combined with hyperactivity and aggressive behaviour. In order to clone the
deficient gene, we purified the enzyme from human placenta and obtained
amino acid sequence information. Alignment of one of the CNBr generated
internal peptides to sequence from the database revealed the chromosomal
location of the gene in the 5' upstream flanking region of the gene for
17-beta-hydroxysteroid-dehydrogenase at 17q21.1. The available DNA sequence
was used to clone the cDNA coding for alpha-N- acetylglucosaminidase and
analyse its gene structure. The gene is fully contained in the 5' upstream
flanking region of the gene for 17-beta- hydroxysteroid-dehydrogenase and
interrupted by five introns. The cDNA clone has a length of 2575 bp and
encodes a protein of 743 amino acids. Chinese hamster ovary cells
transfected with the cDNA construct show alpha-N-acetylglucosaminidase
activity about 17-fold over background. This will allow correction studies
with NAG deficient Sanfilippo B cell lines and facilitate the development
of enzyme replacement therapy for these patients.
相似文献
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PR Kamudoni K Maleta Z Shi MM De Paoli G Holmboe‐Ottesen 《Acta paediatrica (Oslo, Norway : 1992)》2010,99(3):367-372
Aim: To investigate mothers’ perceptions of breastfeeding and influences from their social network. Methods: A cross‐sectional survey was carried out in Mangochi district, Malawi where questionnaire data from 157 rural and 192 semi‐urban mother–infant pairs were obtained. Results: The proportion of mothers who thought that exclusive breastfeeding should last for 6 months and those who reported to have actually exclusively breastfed were 40.1% and 7.5% respectively. Of those who reported practising exclusive breastfeeding for 6 months, 77.5% stated that exclusive breastfeeding should last for 6 months. This opinion was independently associated with giving birth in a Baby‐Friendly facility, OR = 5.22; 95% CI (1.92–14.16). Among the mothers who thought that exclusive breastfeeding should last for less than 6 months, 43.9% reported having been influenced in their opinion by health workers. Infant crying was the most common (62.4%) reason for stopping exclusive breastfeeding. Conclusion: The findings illustrate the positive impact health workers can have, as well as the need to raise awareness of the benefits of exclusive breastfeeding among both health workers and mothers. Furthermore, continued counselling of mothers on how to deal with stressful infant behaviour such as crying may assist to prolong exclusive breastfeeding. 相似文献
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WS Lee PJ McKiernan J de Ville de Goyet MS Tanner PR John 《Acta paediatrica (Oslo, Norway : 1992)》2001,90(11):1352-1355
A 16-y-old boy who had undergone bone marrow transplantation for relapsed acute lymphoblastic leukaemia developed liver cirrhosis and refractory ascites, which did not respond to salt restriction, diuretics and abdominal paracentesis. Liver transplantation was not feasible because of poor nutritional status, pre-existing renal dysfunction and uncertainty about the prognosis of his leukaemia. The patient underwent a successful transjugular intrahepatic portosystemic shunt (TIPS), with immediate resolution of ascites, enabling cessation of diuretics and improvement in nutritional status. At 24 mo following TIPS there has been no re-accumulation of ascites. CONCLUSION: TIPS may have a role in the management of refractory ascites secondary to liver cirrhosis in selected children. 相似文献
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