A team of researchers and doctors in Taipei yesterday announced that they successfully carried out the screening of newborns for the early detection of a rare genetic disorder, which could allow for earlier treatment and greatly increase survival rates.
In 2005, the medical team at National Taiwan University Hospital (NTUH) launched the world’s first Pompe disease newborn screening project and has since diagnosed seven infants with the disease, said Hwu Wuh-liang (胡務亮), chief of the Department of Medical Genetics.
Pompe disease is a rare autosomal recessive lysosomal storage disorder caused by deficient acid alpha-glucosidase activity, which means the body suffers from a buildup of glycogen, a stored form of sugar used for energy.
Pompe patients suffer from progressive, debilitating and often life-threatening symptoms involving the musculoskeletal, respiratory and cardiac systems.
It can progress rapidly, with most victims dying before the age of one.
“This is the first large-scale study showing that newborn screening for Pompe disease is feasible,” Hwu said.
The findings were published in the July issue of Pediatrics, the official journal of the American Academy of Pediatrics.
The screening, carried out at the university’s newborn screening center, is done by taking dried blood samples within three days of birth, Hwu said.
About 45 percent of all screenings of newborns in Taiwan is done there, he said.
While the program is ongoing, the screening is free of charge at the hospital.
Once research has ended, however, screening for Pompe disease will cost about NT$200, in addition to the NT$400 for traditional screening for newborns.
Doctors and nongovernmental organizations urged the government to provide a subsidy for minority groups and low-income families.
“Even though [NT$200] may not seem like a big amount, extremely poor families may still be unable to cover the fee … We hope the government will provide a subsidy, because it is important to detect [disease] early,” Taiwan Foundation for Rare Disorders vice president Tseng Min-chieh (曾敏傑) said.
A woman surnamed Chen, the mother of a Pompe baby, said her son was diagnosed with the disease after screening at one of the clinics affiliated with NTUH.
Chen said that even though her two-year-old son had to receive injections every two weeks, she was glad the disease was identified early so that her son could live a normal life.
A group of Taiwanese-American and Tibetan-American students at Harvard University on Saturday disrupted Chinese Ambassador to the US Xie Feng’s (謝鋒) speech at the school, accusing him of being responsible for numerous human rights violations. Four students — two Taiwanese Americans and two from Tibet — held up banners inside a conference hall where Xie was delivering a speech at the opening ceremony of the Harvard Kennedy School China Conference 2024. In a video clip provided by the Coalition of Students Resisting the CCP (Chinese Communist Party), Taiwanese-American Cosette Wu (吳亭樺) and Tibetan-American Tsering Yangchen are seen holding banners that together read:
UNAWARE: Many people sit for long hours every day and eat unhealthy foods, putting them at greater risk of developing one of the ‘three highs,’ an expert said More than 30 percent of adults aged 40 or older who underwent a government-funded health exam were unaware they had at least one of the “three highs” — high blood pressure, high blood lipids or high blood sugar, the Health Promotion Administration (HPA) said yesterday. Among adults aged 40 or older who said they did not have any of the “three highs” before taking the health exam, more than 30 percent were found to have at least one of them, Adult Preventive Health Examination Service data from 2022 showed. People with long-term medical conditions such as hypertension or diabetes usually do not
POLICE INVESTIGATING: A man said he quit his job as a nurse at Taipei Tzu Chi Hospital as he had been ‘disgusted’ by the behavior of his colleagues A man yesterday morning wrote online that he had witnessed nurses taking photographs and touching anesthetized patients inappropriately in Taipei Tzu Chi Hospital’s operating theaters. The man surnamed Huang (黃) wrote on the Professional Technology Temple bulletin board that during his six-month stint as a nurse at the hospital, he had seen nurses taking pictures of patients, including of their private parts, after they were anesthetized. Some nurses had also touched patients inappropriately and children were among those photographed, he said. Huang said this “disgusted” him “so much” that “he felt the need to reveal these unethical acts in the operating theater
Heat advisories were in effect for nine administrative regions yesterday afternoon as warm southwesterly winds pushed temperatures above 38°C in parts of southern Taiwan, the Central Weather Administration (CWA) said. As of 3:30pm yesterday, Tainan’s Yujing District (玉井) had recorded the day’s highest temperature of 39.7°C, though the measurement will not be included in Taiwan’s official heat records since Yujing is an automatic rather than manually operated weather station, the CWA said. Highs recorded in other areas were 38.7°C in Kaohsiung’s Neimen District (內門), 38.2°C in Chiayi City and 38.1°C in Pingtung’s Sandimen Township (三地門), CWA data showed. The spell of scorching