排序方式: 共有4条查询结果,搜索用时 15 毫秒
1
1.
Usanarat Anurathapan Thipwimol Tim-Aroon Wujuan Zhang Watinee Sanpote Siranee Wongrungsri Nitcha Khunin Somchai Chutipongtanate Vilawan Chirdkiatgumchai Lukana Ngiwsara Suphaneewan Jaovisidha Arthaporn Khongkraparn Samart Pakakasama Jisnuson Svasti Kenneth D. R. Setchell Duangrurdee Wattanasirichaigoon Suradej Hongeng 《Pediatric blood & cancer》2023,70(3):e30149
Background
Gaucher disease (GD) is a lysosomal storage disorder, characterized by hepatosplenomegaly, pancytopenia, bone diseases, with or without neurological symptoms. Plasma glucosylsphingosine (lyso-Gb1), a highly sensitive and specific biomarker for GD, has been used for diagnosis and monitoring the response to treatment. Enzyme replacement therapy (ERT) is an effective treatment for the non-neurologic symptoms of GD. Neuronopathic GD (type 2 and 3) accounts for 60%–70% of the Asian affected population.Methods
We explored combination therapy of ERT followed by hematopoietic stem cell transplantation (HSCT) and its long-term outcomes in patients with GD type 3 (GD3).Results
Four patients with GD3 and one with GD type 1 (GD1) underwent HSCT. The types of donor were one matched-related, one matched-unrelated, and three haploidentical. The age at disease onset was 6–18 months and the age at HSCT was 3.8–15 years in the patients with GD3. The latest age at follow-up was 8–22 years, with a post-HSCT duration of 3–14 years. All patients had successful HSCT. Chronic graft-versus-host disease occurred in one patient. The enzyme activities were normalized at 2 weeks post HSCT. Lyso-Gb1 concentrations became lower than the pathological value. All of the patients are still alive and physically independent. Most of them (4/5) returned to school. None of the patients with GD3 had seizures or additional neurological symptoms after HSCT, but showed varying degrees of cognitive impairment.Conclusions
ERT followed by HSCT could be considered as an alternative treatment for patients with GD3 who have a high risk of fatal neurological progression. 相似文献2.
Froehlich TE Anixt JS Loe IM Chirdkiatgumchai V Kuan L Gilman RC 《Current psychiatry reports》2011,13(5):333-344
Attention-deficit/hyperactivity disorder (ADHD) is a prevalent neurobehavioral disorder affecting 5% to 10% of children. Although
considered to be a highly familial disorder, ADHD heritability estimates of 60% to 80% highlight the considerable role that
environmental factors may still play in disorder susceptibility. Proposed ADHD environmental risk factors include prenatal
substance exposures, heavy metal and chemical exposures, nutritional factors, and lifestyle/psychosocial factors. This paper
reviews the literature published in 2010 investigating the association between environmental risk factors and ADHD or related
symptomatology. Sources of risk factor exposure and the proposed mechanism by which each exposure is linked to ADHD-related
neurobehavioral changes are also reported. Methodologic limitations of the current literature are discussed, and guidelines
for future study are proposed. An improved understanding of the role that environmental factors play in ADHD etiology is critical
to future ADHD prevention efforts. 相似文献
3.
Effectiveness of neurofeedback versus medication for attention‐deficit/hyperactivity disorder
下载免费PDF全文
![点击此处可从《Pediatrics international》网站下载免费的PDF全文](/ch/ext_images/free.gif)
4.
Kijak GH Tovanabutra S Sanders-Buell E Watanaveeradej V de Souza MS Nelson KE Ketsararat V Gulgolgarn V Wera-arpachai M Sriplienchan S Khamboonrueng C Birx DL Robb ML McCutchan FE 《Virology》2007,358(1):178-191
High-resolution HIV-1 genotyping of large sample sets is crucial to define the evolving and dynamic epidemics in Asia. Here we present MHAbce v.2, a multi-region hybridization assay that individually discriminates subtypes B, C, CRF01_AE, and virtually all of their described recombinants, based on real-time PCR using subtype-specific TaqMan probes in 8 regions throughout the viral genome. In a validation panel (n=70), the assay performed with a sensitivity of 95.7% and specificity of 99.8%. The assay was field-tested on samples from a retrospective MTCT cohort (n=180; Lampang Province, Northern Thailand; 1996-1998). 177/180 of the samples were typeable, and 94.4% were typed as CRF01_AE. The remaining strains represented even proportions of subtype B and B/CRF01_AE recombinants and were confirmed by sequencing, revealing early links between the heterosexual and IDU HIV-1 epidemics in Thailand. MHAbce v.2, with an area of application including China, India, Southeast Asia, and the Pacific Rim, can be used to develop a comprehensive and detailed picture of this important component of the HIV/AIDS pandemic. 相似文献
1