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CUHK Launches Newborn Add-on Test for Congenital Adrenal Hyperplasia Supported by Joshua Hellmann Foundation for Orphan Disease
21 DEC 2015
The Chinese University of Hong Kong’s (CUHK) Newborn Metabolic Screening Programme will launch an add-on test for Congenital Adrenal Hyperplasia (CAH) in 2016 thanks to a further donation from the Joshua Hellmann Foundation for Orphan Disease (JHF). This new CAH screening will enable early diagnosis and treatment of the recessive disorder that can be life-threatening and can lead to virilization of the external genitalia in female infants. From 15 February to 30 June 2016, newborns will be sponsored to take the new screening item.
【CAH and its treatment】
CAH is an autosomal recessive disorder with the majority (over 90%) of cases resulting from 21-hydroxylase deficiency. Affected infants may have deficient production of glucocorticoids and mineralocorticoids, and excessive production of androgens. Severely affected infants may suffer from salt-losing crises, hypoglycemia, shock and even death. Excessive androgens may lead to in utero virilization of the external genitalia in female fetuses.
‘According to data from Taiwan, there is one new case in every 10000-15000 newborns per year. And based on some US data, the mortality rate is around 4-10% in salt-wasting CAH without screening’, Dr. Ho Chung YAU, Clinical Assistant Professor (honorary), Department of Paediatrics at CUHK, remarked, ‘The mainstay of treatment is to replace glucocorticoids, mineralocorticoids and sodium supplement in the neonatal and infancy period. Treatment needs to be fine-tuned in order to reduce the morbidities and mortalities associated with adrenal insufficiency and androgen excess, aiming at normal growth and puberty in childhood and adolescence.’
【Prenatal diagnosis of CAH】
If both parents carry the CAH recessive gene mutation, there is a 25% chance that the fetus will be affected by CAH and prenatal diagnosis can be offered to see if the fetus has inherited the mutations. However, most cases of CAH do not have known family history since this is a recessive disorder, prenatal diagnosis is not easy due to a lack of prenatal ultrasound features.
Dr. Yvonne Kwun Yue CHENG, Assistant Professor, Department of Obstetrics and Gynaecology, further explained, ‘Female fetuses may develop an abnormal or ambiguous genitalia because of the excess androgens related to CAH. If such abnormality is seen on ultrasound, CAH will be suspected and we can offer further genetic testing. On the other hand, most males do not show any prenatal sonographic abnormalities, and therefore, diagnosing CAH in male fetuses prenatally is much more difficult.’
【CAH add-on test for newborn】
CAH screening has been included as the newborn screening items in many developed countries such as United States, Australia, Canada, and Germany. ‘Time-resolved fluoroimmunoassay’ is adopted to measure the concentration of 17-hydroxyprogesterone (17OHP), a precursor of cortisol and the biomarker for CAH screening, in the infant’s blood.
Dr. Liz Yuet Ping YUEN, Clinical Associate Professor (honorary), Department of Chemical Pathology at CUHK said, ‘17OHP concentrations are high in normal newborns and drop rapidly within the first few days of life, while newborns with CAH have persistently high 17OHP level. Therefore, the best time for sample collection is within 48 hours or after. Besides this, transient elevation of 17OHP is commonly seen in babies born before 37 weeks of gestation. It is the reason why more false-positives are seen in premature babies than full term babies. In general, in 100 newborns with positive screening result, one to two will be confirmed to suffer from CAH.’
Starting from 2016, CAH screening will be launched by The Centre of Inborn Errors of Metabolism (CIEM) at CUHK as an add-on test to the current newborn metabolic screening programme. . Results will be available within 3 working days. If the screening result is positive, the parents will be contacted for further confirmatory testing and the newborns diagnosed as CAH will be referred to paediatrician specialists immediately for follow-up.
【Donation by Joshua Hellmann Foundation for Orphan Disease】
With a new donation from JHF to the amount of $500,000 this year, CIEM is able to set up this new and important CAH screening test and sponsor newborns to take the test. JHF has also pledged another $200,000 for supporting more newborns to do newborn metabolic screening.
Dr. Josephine Shuk Ching CHONG, Clinical Professional Consultant, Department of Obstetrics and Gynaecology and Department of Paediatrics, is especially thankful for the contribution of JHF to the screening programme, ‘The launch of the newborn metabolic screening programme in 2013 can raise public awareness of the importance of newborn screening and act as a useful reference for public health care providers. JHF’s support for the launch of the CAH screening can help reach an important milestone for the screening history of newborns in Hong Kong. It will enable early detection and offer timely treatment at the presymptomatic period, so as to avoid salt-losing adrenal crisis and reduce possible early infant death.’
【Newborn Screening Programme】
With a donation of HK$1 million by JHF as the start-up funding, the departments of Chemical Pathology, Obstetrics and Gynaecology and Paediatrics at CUHK jointly developed the territory’s first newborn metabolic screening programme in July 2013. The programme can test 30 kinds of Inborn Errors of Metabolism (IEM) including amino acid disorders, fatty acid oxidation disorders and organic acid disorders. The test requires only a few drops of blood collected by pricking the baby's heel, and can be done 1 day after oral feeding has started, and within 7 days after birth.
More than 20,000 newborn babies have joined the newborn metabolic screening programme in the past 2.5 years. Five patients with IEM conditions have been identified and have been managed by the paediatrician at the metabolic clinic. CIEM has also provided newborn screening services to 11 hospitals and 4 clinics/laboratories. For enquiries on the programme, please call CIEM at (852) 2632 6412 (office hours) or (852) 2632 4219 (voice mail service available during non-office hours).
Source: Communications and Public Relations Office, The Chinese University of Hong Kong
Dr Li Dak Sum Donates HK$300 Million to Three Universities to Establish Scholarships for Young Talents
17 DEC 2015
The University of Hong Kong (HKU), The Chinese University of Hong Kong (CUHK) and The Hong Kong University of Science and Technology (HKUST) received a HK$300 million donation from Dr Li Dak Sum for the establishment of scholarship schemes to nurture young talents.
An endowment fund, namely Li Dak Sum Yip Yio Chin Kenneth Li Education Fund, will be set up by the three universities respectively with the HK$100 million donation each to award scholarships to local undergraduates who graduated from Ning Po College and Ning Po No.2 College and are outstanding in both academic performance and personal conduct, and with financial need.
Dr Li, a renowned businessman and philanthropist, has always been dedicated to supporting education in Hong Kong and Mainland China. He believes nurturing young talents can help advance the country. Dr Li is the Founding Chairman of the Ning Po Residents Association (Hong Kong), which established Ning Po College and Ning Po No.2 College in Hong Kong.
A donation agreement signing ceremony of Li Dak Sum Yip Yio Chin Kenneth Li Scholarship was held on 15 December. Among the guests at the ceremony were Dr Li Dak Sum and his family members, including his son Mr Richard Li Lap Fung, and his grandson Mr Kenneth Li, as well as Presidents and Directors of the Ning Po Residents Association (Hong Kong). Prof Peter Mathieson, President and Vice-Chancellor of HKU, Prof Joseph J Y Sung, Vice-Chancellor and President of CUHK, and Prof Tony F Chan, President of HKUST, also attended the ceremony.
Dr Li said, “I am pleased to collaborate with the three top-notch universities in Hong Kong. I hope that the scholarship can encourage students to strive for excellence and seek admission to the three universities. I am confident that the three universities will continue nurturing more future leaders.”
HKU President and Vice-Chancellor Prof Peter Mathieson thanked Dr Li sincerely for this wonderful major gift in support of nurturing young talents. "We applaud Dr Li's long-term vision of supporting education. It is with this support that HKU continues to thrive and contribute to the advancement of education for the betterment of society.”
Prof Joseph J Y Sung, Vice-Chancellor and President of CUHK expressed his deep gratitude to Dr Li’s relentless support towards CUHK. He said, “We are honored to have received a generous donation from Dr Li again after receiving from Dr Li mid this year a donation to support the establishment of the R&D Centre for Chinese Medicine. CUHK will continue to nurture young leaders who are committed to the wellness of our society. I hope that our students can follow the footsteps of Dr Li to strive for excellence and contribute to society in the future.”
HKUST President Prof Tony F Chan expressed his heartfelt gratitude to Dr Li for his generosity. “Dr Li has been a staunch supporter of tertiary education in Hong Kong. We are honored to be one of the recipients of the donation. HKUST will play its part to nurture our students not only by enriching their knowledge and broadening their global vision, but also encouraging them to be a thoughtful and responsible citizen.”
The scholarships will be launched in the academic year 2016-17. Each year, the three universities will award up to a total of 51 scholarships, and each student will receive HK$50,000 per year for 4 years totaling HK$200,000.
Source: Communications and Public Relations Office, The Chinese University of Hong Kong
Record high HK$1.9 million raised in the 11th CUHK Golf Day
16 DEC 2015
The 11th CUHK Golf Day was held on Monday, 14 December 2015 at the Hong Kong Golf Club. Close to 100 alumni and friends of The Chinese University of Hong Kong (CUHK) participated in this meaningful event. A record high of HK$1.9 million in donations was raised through Golf Day this year in support of the development of the University.
The Tee-off Ceremony was officiated by Professor Michael Hui, Pro-Vice-Chancellor and Vice-President of CUHK, Dr Yeung Ming-biu, Supreme Sponsor and Founder and Chairman of Oriental Watch Holdings Limited, Mr Stewart Cheng, Diamond Sponsor and President of the Organizing Committee of CUHK Golf Day 2015, and Mrs Carol Tsang, Diamond Sponsor and Vice-President of the Organizing Committee. Before the 23 teams embarked their exciting 18-hole tournament, Professor Hui extended a warm welcome to all participants and thanked our sponsors, alumni and friends for the support they have rendered to this event.
We are delighted to announce that Chung Chi College won the CU Cup. It is the third time for the College to win this prestigious award. Wealth Eagle Team was the winner of the Oriental Watch Open Cup - Best Net, while alumni Mr Jeremy Tang and Ms Leong Kuo-wa won the Men’s and Ladies’ Best Gross Championship respectively.
At the Prize Presentation Ceremony, Professor Joseph Sung, Vice-Chancellor and President of CUHK said it was extremely encouraging to see a growing alumni participation rate of the event from 30% in 2005 to over 50% in recent years. Professor Sung expressed his gratitude to our alumni and friends for their enthusiastic support towards the Chinese University.
All donations, except those with designated areas of support, solicited through the event will be used to enrich the CUHK Golf Day Scholarship. Seven undergraduates, with outstanding academic performance and active participation in voluntary services and sports activities, have been awarded the scholarship this year.