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Dopa-Responsive Dystonia: A Male Patient Inherited a Novel GCH1 Deletion from an Asymptomatic Mother
Wendi Wang,Baozhong Xin,Heng Wang 대한파킨슨병및이상운동질환학회 2020 Journal Of Movement Disorders Vol.13 No.2
Dopa-responsive dystonia (DRD) is a complex genetic disorder with either autosomal dominant or autosomal recessive inheritance,with autosomal dominant being more frequent. Autosomal dominant DRD is known to be caused by mutations in theGCH1 gene, with incomplete penetrance frequently reported, particularly in males. Here, we report a male patient with DRDcaused by exon 1 deletion in the GCH1 gene inherited from the asymptomatic mother. The patient had an atypical presentation,notably with no dystonia, and underwent extensive workup for a myriad of neuromuscular disorders before a low-dose L-dopatrial and confirmatory genetic testing were performed. Our experience with this family highlights an atypical presentation ofDRD and prompts us to consider the genetic complexity of DRD.
Trophic Effect of Bee Pollen on Small Intestine in Broiler Chickens
Heng Wang,Jue Wang,Shenghe Li,Qifa Wang,Baozhong Xin 한국식품영양과학회 2007 Journal of medicinal food Vol.10 No.2
In this study, the effects of bee pollen on the development of digestive organs were evaluated in broiler chick-ens. A total of 144 1-day-old AA broiler chickens were randomly and equally divided into two groups, assigned as the con-trol group and the pollen group, respectively. The control group was fed with a basic diet, while the pollen group was fedwith a basic diet supplemented with 1.5% bee pollen over a period of 6 weeks. At the end of each week, the digestive organswere obtained for comparison from 12 broilers randomly selected from each group. The results demonstrated that comparedto the control group, the small intestine villi from the duodenum, jejunum, and ileum were longer and thicker in the pollengroup. This difference was more significant during early development, especially through the first 2 weeks. Bee pollen in-creased the length of the villi by 37.1% and 29.4% in the duodenum, 28.1% and 33.7% in the jejunum, and 18.6% and 16.2%in the ileum in week 1 and 2, respectively. Furthermore, the small intestinal glands were developed at a higher density in thepollen group, and the depth of the glands was significantly increased by bee pollen in the first 2 weeks. These findings sug-gest that bee pollen could promote the early development of the digestive system and therefore is a potentially beneficial foodsupplement for certain conditions, such as short bowel syndrome.