Management guideline for <scp>Werner</scp> syndrome 2020. 2. <scp>Sarcopenia</scp> associated with <scp>Werner</scp> syndrome

Kuzuya, Masafumi; Takemoto, Minoru; Kubota, Yoshitaka; Taniguchi, Toshibumi; Motegi, Sei-ichiro; Taniguchi, Akira; Nakagami, Hironori; Maezawa, Yoshiro; Koshizaka, Masaya; Kato, Hisaya; Mori, Seijiro; Tsukamoto, Kazuhisa; Yokote, Koutaro

doi:10.1111/ggi.14076

Cited by 5 publications

(3 citation statements)

References 4 publications

(9 reference statements)

Supporting

Mentioning

Contrasting

Order By: Relevance

“…If multiple corn/callus and calcification of the Achilles tendon are observed, genetic testing should be conducted to confirm the diagnosis. Please refer to the "Management guideline for Werner syndrome 2020" series for the main strategy to treat each specific symptom [52][53][54][55][56][57][58][59] .…”

Section: Clinical Characteristics Of Wsmentioning

confidence: 99%

Atherosclerosis and Cardiovascular Diseases in Progeroid Syndromes

Kato

Maezawa

2022

JAT

Self Cite

View full text Add to dashboard Cite

Hutchinson-Gilford progeria syndrome (HGPS) and Werner syndrome (WS) are two of the representative genetic progeroid syndromes and have been widely studied in the field of aging research. HGPS is a pediatric disease in which premature aging symptoms appear in early childhood, and death occurs at an average age of 14.5 years, mainly due to cardiovascular disease (CVD). Conversely, WS patients exhibit accelerated aging phenotypes after puberty and die in their 50s due to CVD and malignant tumors. Both diseases are models of human aging, leading to a better understanding of the aging-associated development of CVD. In this review, we discuss the pathogenesis and treatment of atherosclerotic diseases presented by both progeroid syndromes with the latest findings. Hutchinson-Gilford Progeria SyndromeHGPS is an ultra-rare autosomal dominant genetic premature aging syndrome that occurs in one in four to eight million births and causes death at an average age of 14.5 years due to myocardial infarction or stroke 4, 5) (Table 1). Because of the abnormal splicing of the LMNA gene on chromosome 1, the lamin A protein encoded by this gene cannot be normally produced, and an abnormal protein called progerin accumulates in the nucleus. The main symptoms are scleroderma-like skin, joint contractures, bone abnormalities, hair loss, growth retardation, and atherosclerotic diseases, such as myocardial infarction and stroke. Clinical Characteristics of HGPSInfants with HGPS are normal at birth, but the mean weight is slightly small for gestational age 4) . The first pathognomonic signs are prominent veins on the nose bridge, followed by growth retardation, hair loss, and reduced subcutaneous fat around 6 to 12 months, and the diagnosis is often made between 2 and 3 years Copyright©2021 Japan Atherosclerosis Society This article is distributed under the terms of the latest version of CC BY-NC-SA defined by the Creative Commons Attribution License.

show abstract

Section: Clinical Characteristics Of Wsmentioning

confidence: 99%

Atherosclerosis and Cardiovascular Diseases in Progeroid Syndromes

Kato

Maezawa

2022

JAT

Self Cite

View full text Add to dashboard Cite

show abstract

“…The patients with WS may experience changes in body features, such as appendicular skeletal muscle mass (SM), due to accelerated aging 7 . Only one report using dual‐energy X‐ray absorption assay (DXA) and computed tomography (CT) has evaluated the body composition of multiple cases with WS 8 .…”

Section: Introductionmentioning

confidence: 99%

“…3 The patients with WS may experience changes in body features, such as appendicular skeletal muscle mass (SM), due to accelerated aging. 7 Only one report using dual-energy X-ray absorption assay (DXA) and computed tomography (CT) has evaluated the body composition of multiple cases with WS. 8 In addition to DXA and CT, there is an inexpensive and highly mobile bioelectrical impedance analysis (BIA) method for analyzing body composition, without radiation exposure, and it has become more widespread recently.…”

Section: Introductionmentioning

confidence: 99%

Examination of the body composition of patients with Werner syndrome using bioelectrical impedance analysis

Tanaka

Kuzuya

2021

Geriatrics Gerontology Int

Self Cite

View full text Add to dashboard Cite

This study performed anthropometric measurements for Werner syndrome (WS) using bioelectrical impedance analysis and compared them with the Japanese reference data. Methods:The analytical sample included nine participants with WS (four men, five women, 49.6 AE 9.3 years, SD). The height-corrected appendicular skeletal muscle mass index (SMI), upper-and lower-limb muscle mass index (USMI/LSMI) of the patients with WS were compared with the Japanese reference data (40-79 years). The body mass index, SMI, heightcorrected fat mass index (FMI) and fat-free mass index (FFMI) were compared with the reference data of Japanese older adults (65-94 years). The SMIs of WS were also compared with the diagnostic criteria for sarcopenia. Results:The SMI and USMI/LSMI of all participants with WS were lower than the Japanese reference data corresponding to gender and age, and the rate of decrease was more pronounced for USMI than for LSMI. The body mass index, SMI and FFMI for all the WS cases were lower than those for the older Japanese, while the FMI was higher in men with WS but lower in women than the reference data of the older Japanese. The SMI was below the cut-off value for the diagnosis of sarcopenia in all patients with WS. Conclusion:The SMI for WS is comparable with that for sarcopenia and significantly lower than that for healthy individuals of the same age and older adults. The USMI was significantly lower than LSMI in patients with WS, and FMI was higher in male patients with WS and lower in women than in healthy older people.

show abstract

Management guideline for Werner syndrome 2020. 2. Sarcopenia associated with Werner syndrome

Cited by 5 publications

References 4 publications

Atherosclerosis and Cardiovascular Diseases in Progeroid Syndromes

Atherosclerosis and Cardiovascular Diseases in Progeroid Syndromes

Examination of the body composition of patients with Werner syndrome using bioelectrical impedance analysis

Contact Info

Product

Resources

About