Adalia and Meghan are two beautiful and courageous young girls who are growing up way too fast. Both have a rare and fatal genetic condition called Progeria, a disease that causes rapid ageing – 10-times faster than normal. Their life expectancy is very short, usually only into the mid-teens. But, as Sunday Night’s Steve Pennells reports, they are making every second of their short lives count. And the good news is, there’s now hope for a cure.

This story originally aired on the 21st October 2018. Sadly Adalia passed away on January 12, 2022.

Read more - https://7news.com.au/sunday-ni....ght/every-day-we-try

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A WOMAN from Ohio with rapid ageing disease has been told she is one in 50 million. Tiffany Wedekind, 41, was diagnosed with progeria when she was in her late twenties. Her brother, Chad, who was also diagnosed with the illness, passed away from complications related to the disease seven years ago. Tiffany’s case is unique as children are usually diagnosed with progeria in their first two years of life, and tend to not live past adolescence.

Follow Tiffany on Instagram: https://www.instagram.com/tenacioustiffany614/

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Dr. Masaya Koshizaka from the Department of Endocrinology, Hematology, and Gerontology at Chiba University Graduate School of Medicine, details a research paper he co-authored that was published by Aging (Aging-US) in Volume 15, Issue 9, entitled, “Renal dysfunction, malignant neoplasms, atherosclerotic cardiovascular diseases, and sarcopenia as key outcomes observed in a three-year follow-up study using the Werner Syndrome Registry.”
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DOI - https://doi.org/10.18632/aging.204681

Corresponding authors - Masaya Koshizaka - overslope@chiba-u.jp, and Koutaro Yokote - kyokote@faculty.chiba-u.jp

Video transcription - https://aging-us.net/2023/06/0....9/behind-the-study-k

Abstract

Werner syndrome is an adult-onset progeria syndrome that results in various complications. This study aimed to clarify the profile and secular variation of the disease. Fifty-one patients were enrolled and registered in the Werner Syndrome Registry. Their data were collected annually following registration. A cross-sectional analysis at registration and a longitudinal analysis between the baseline and each subsequent year was performed. Pearson's chi-squared and Wilcoxon signed-rank tests were used. Malignant neoplasms were observed from the fifth decade of life (mean onset: 49.7 years) and were observed in approximately 30% of patients during the 3-year survey period. Regarding renal function, the mean estimated glomerular filtration rate calculated from serum creatinine (eGFRcre) and eGFRcys, which were calculated from cystatin C in the first year, were 98.3 and 83.2 mL/min/1.73 m2, respectively, and differed depending on the index used. In longitudinal analysis, the average eGFRcre for the first and fourth years was 74.8 and 63.4 mL/min/1.73 m2, showing a rapid decline. Secular changes in Werner syndrome in multiple patients were identified. The prevalence of malignant neoplasms is high, and renal function may decline rapidly. It is, therefore, necessary to carry out active and detailed examinations and pay attention to the type and dose of the drugs used.

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Keywords - aging, disease profile, long-term follow-up, malignant neoplasm, renal function, Werner syndrome

About Aging-US

Launched in 2009, Aging-US publishes papers of general interest and biological significance in all fields of aging research and age-related diseases, including cancer—and now, with a special focus on COVID-19 vulnerability as an age-dependent syndrome. Topics in Aging-US go beyond traditional gerontology, including, but not limited to, cellular and molecular biology, human age-related diseases, pathology in model organisms, signal transduction pathways (e.g., p53, sirtuins, and PI-3K/AKT/mTOR, among others), and approaches to modulating these signaling pathways.

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Werner syndrome is a rare yet devastating disease that develops due to mutations in the WRN gene which lies on chromosome 8 in humans. It is the most common among premature aging syndromes collectively called progeria. Werner syndrome currently affects 1 in 100,000 people in the United States, but 1 in 20,000-40,000 people in Japan and 1 in 50,000 in Sardinia, an island off the coast of Italy.

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Dr. Jim Collins is a Gerontologist and nationally-recognized expert in wellness and health care for seniors and older Americans. Over his 30-year career Dr. Collins has always had a strong focus on education – both as a prolific speaker, author of published articles, newsletters and the first book about person-centered care for seniors entitled "The Person-Centered Way: Revolutionizing Quality of Life in Long Term Care".

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