1.Introduction to Pharmacy Education in Singapore
Han Seng LIM ; Hairui LI ; Jing PAN ; Gigi N.C. CHIU ; Keung Wai CHUI ; Lifeng KANG
Herald of Medicine 2016;(2):111-114
Pharmacy education in Singapore adopts a patient-orientated approach. This article provides a general introduction to the education and practice of Pharmacy in Singapore through 3 major aspects,①Professional pharmacy degree;②Curriculum of the undergraduate and postgraduate pharmacy education;③Professional pharmacy practice and employment in Singapore.
2.Clinical and molecular genetic analysis of a child with comorbid 16p11.2 microdeletion syndrome and Rett syndrome
Pengwu LIN ; Xuan FENG ; Shengju HAO ; Chunyang JIA ; Hairui PAN ; Chuan ZHANG ; Ling HUI ; Qinghua ZHANG
Chinese Journal of Medical Genetics 2024;41(5):612-616
Objective:To explore the genetic characteristics of a child with comorbid 16p11.2 microdeletion syndrome and Rett syndrome (RTT).Methods:A male infant who was admitted to Gansu Provincial Maternity and Child Health Care Hospital in May 2020 was selected as the study subject. Clinical data of the infant was collected. Genomic DNA was extracted from peripheral blood samples from the infant and his parents, and subjected to whole exome sequencing (WES). Candidate variant was verified by Sanger sequencing.Result:The patient, a 4-day-old male infant, had presented with poor response, poor intake, feeding difficulties, and deceased at 8 months after birth. WES revealed that he has harbored a 0.643 Mb deletion in the 16p11.2 region, which encompassed key genes of the 16p11.2 microdeletion syndrome such as ALDOA, CORO1A, KIFF22, PRRT2 and TBX6. His father has carried the same deletion, but was phenotypically normal. The deletion was predicted to be pathogenic. The child was also found to harbor a maternally derived c. 763C>T (p.R255X) hemizygous variant of the MECP2 gene, which was also predicted to be pathogenic (PVS1+ PS4+ PM2_Supporting). Conclusion:The 16p11.2 deletion and the MECP2: c.763C>T (p.R255X) variant probably underlay the pathogenesis in this infant.