Publications (2)1.22 Total impact
Article: A novel iduronate 2-sulfatase mutation in a Chinese family with mucopolysaccharidosis type II.[show abstract] [hide abstract]
ABSTRACT: Mucopolysaccharidosis type II (MPS II; also known as Hunter syndrome) is an X-linked multisystem disorder resulting from the defective activity of the enzyme iduronate-2-sulfatase (IDS). Genetic testing is crucial in clarifying and diagnosing different types of MPS diseases. In this paper we report a novel IDS nonsense mutation resulting in MPS II in several patients from a Chinese family. IDS enzyme activity, polymerase chain reaction, and DNA sequencing were performed to confirm the diagnosis of MPS II. Three patients had no detectable IDS activity. Two genetic tests revealed a novel IDS nonsense mutation (c.1030G>T, p.E344X) inherited from their mothers. The nonsense mutation shortened the peptide chain from 550 to 344 amino acids, which is believed to be a disease-causing mutation. MPS II is inherited in an X-linked manner. The risk to sibs depends on the carrier status of the mother. Genetic testing is necessary to identify disease-causing mutation. With this information, carrier testing for at-risk female relatives and prenatal testing for pregnancies at increased risk become possible.World Journal of Pediatrics 05/2012; 8(3):281-3. · 1.22 Impact Factor
Article: [Therapeutic effects of levetiracetam on electrical status epilepticus during sleep in children].[show abstract] [hide abstract]
ABSTRACT: To study the efficacy of levetiracetam (LEV) in the treatment of electrical status epilepticus during sleep (ESES) in children. The clinical data of 27 children who were newly diagnosed with ESES and treated with LEV between August 2009 and March 2011 and who were followed up for at least 6 months were retrospectively studied. The onset age of the 27 children ranged from 9 months to 9 years and 7 months. Partial motion seizures were found in 81% of the children in the early stage. Twenty-three children received LEV treatment after ESES was definitely diagnosed. Of the 23 children, 19 were diagnosed as epilepsy syndrome of benign childhood epilepsy with centrotemporal spikes (BECT). The age of the patients at the beginning of LEV treatment ranged from 1 year and 8 months to 11 years and 9 months. The follow- up duration was 7 to 19 months. The effective rate of LEV for seizure control was 82% and for EEG recovery it was 78% (P<0.05). The other 4 children received LEV treatment before the occurrence of ESES. Seizure control and EEG recovery were noted in two of the 4 children. LEV treatment is efficacious, to some extent, for both seizure control and EEG recovery in children with ESES.Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics 05/2012; 14(5):340-3.