Sarcopenia and Muscle Dysfunction in Osteogenesis Imperfecta: Insights from A Pilot Study.

IF 1.9 4区医学 Q4 NEUROSCIENCES

Journal of musculoskeletal & neuronal interactions Pub Date : 2025-12-01

Fatma Güntülü Değirmenci Karaahmetoğlu, Banu Ertürk, Alp Çetin, Ömer Alper Gürlek

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引用次数: 0

Abstract

Objective: This study aimed to assess the prevalence of sarcopenia in adult patients with osteogenesis imperfecta (OI) and to identify its associated factors.

Methods: Seventeen adult OI patients and 17 adult healthy controls matched for age, sex, and BMI were included. Assessments included handgrip strength (HGS), ultrasonographic muscle measurements, the International Physical Activity Questionnaire (IPAQ), Upper and Lower Extremity Functional Indices (UEFI & LEFI), the SARC-F questionnaire, and laboratory markers.

Results: Left-handgrip strength was significantly lower in OI patients than in controls (21.8±4.9 kg vs. 25.3±4.2 kg, p = 0.034). Four OI patients had a SARC-F score ≥4, whereas none in the control group did. Handgrip strength was negatively correlated with thigh fat thickness (r = - 0.604, p = 0.010) and free T4 levels (p < 0.05) but positively correlated with gastrocnemius thickness, serum calcium, albumin, and triglycerides (p < 0.05).

Conclusion: Routine muscle strength assessments should be considered an integral component of OI management to optimize patient outcomes. This work is a pilot, hypothesis‑generating study; its preliminary findings require confirmation in larger cohorts with formal power calculations.

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成骨不全症中的肌肉减少症和肌肉功能障碍：来自一项初步研究的见解。

目的：本研究旨在评估成骨不全症（OI）成人患者肌肉减少症的患病率，并确定其相关因素。方法：纳入17名成年成骨不全患者和17名年龄、性别和BMI相匹配的成年健康对照。评估包括握力（HGS）、超声肌肉测量、国际体育活动问卷（IPAQ）、上肢和下肢功能指数（UEFI和LEFI）、SARC-F问卷和实验室标记。结果：成骨不全患者的左手握力明显低于对照组（21.8±4.9 kg比25.3±4.2 kg, p = 0.034）。4例成骨不全患者的SARC-F评分≥4，而对照组中没有患者。握力与大腿脂肪厚度（r = - 0.604, p = 0.010）、游离T4水平呈负相关（p < 0.05），与腓肠肌厚度、血清钙、白蛋白、甘油三酯呈正相关（p < 0.05）。结论：常规肌力评估应被视为成骨不全症治疗的一个组成部分，以优化患者的预后。这项工作是一项试验性的假设生成研究；它的初步发现需要在更大的队列中进行正式的功率计算来证实。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Journal of musculoskeletal & neuronal interactions NEUROSCIENCES-PHYSIOLOGY

CiteScore

3.40

自引率

0.00%

发文量

审稿时长

>12 weeks

期刊介绍： The Journal of Musculoskeletal and Neuronal Interactions (JMNI) is an academic journal dealing with the pathophysiology and treatment of musculoskeletal disorders. It is published quarterly (months of issue March, June, September, December). Its purpose is to publish original, peer-reviewed papers of research and clinical experience in all areas of the musculoskeletal system and its interactions with the nervous system, especially metabolic bone diseases, with particular emphasis on osteoporosis. Additionally, JMNI publishes the Abstracts from the biannual meetings of the International Society of Musculoskeletal and Neuronal Interactions, and hosts Abstracts of other meetings on topics related to the aims and scope of JMNI.