Achilles tendon ultrasonography in familial hypercholesterolemia: A sub-study of the LIpid transPort disorders Italian GEnetic Network (LIPIGEN).
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ABSTRACT:
SUBMITTER: Baragetti A
PROVIDER: S-EPMC9300130 | biostudies-literature | 2022 May
REPOSITORIES: biostudies-literature
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Achilles tendon ultrasonography in familial hypercholesterolemia: A sub-study of the LIpid transPort disorders Italian GEnetic Network (LIPIGEN).
Baragetti Andrea A Casula Manuela M Scarinzi Paolo P Ristè Federica F Scicali Roberto R Biolo Marta M Lugari Simonetta S Dall'Agata Marco M Gazzotti Marta M Olmastroni Elena E Alieva Asiiat S AS Nascimbeni Fabio F
Journal of internal medicine 20211216 5
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Project description: Not available
| S-EPMC11626018 | biostudies-literature
Project description:AimThe 2017 Japan Atherosclerosis Society (JAS) familial hypercholesterolemia (FH) criteria adopt a cut-off value of ≥ 9 mm of Achilles tendon thickness (ATT) detected by X-ray as one of the three key items. This threshold was determined based on an old data evaluating the ATT of 36 non-FH individuals that was published in 1977. Although the specificity of these clinical criteria is extremely high due to a strict threshold, there are a significant number of patients with FH whose ATT ＜9 mm. We aimed to determine a cut-off value of ATT detected by X-ray to differentiate FH and non-FH based on genetic diagnosis.MethodsThe individuals (male/female=486/501) with full assessments of genetic analyses for FH-genes (LDLR and PCSK9), serum lipids, and ATT detected by X-ray at the Kanazawa University Hospital and National Cerebral and Cardiovascular Center Research Institute were included in this study. Receiver operating characteristic (ROC) analyses were conducted to determine a better cut-off value of ATT that predicts the pathogenic mutation of FH.ResultsThe ROC analyses revealed that the best cut-off values of ATT are 7.6 mm for male and 7.0 mm for female, with the sensitivities/specificities of 0.83/0.83 for male and 0.86/0.85 for female, respectively. If the thresholds of ATT of 8.0/7.5 mm and 7.5/7.0 mm were applied to the diagnosis of male/female FH, the sensitivities/specificities predicting the pathogenic mutation of FH by the 2017 JAS FH clinical criteria would be 0.82/0.90 and 0.85/0.88, respectively.ConclusionsThese results suggest that the cut-off value of ATT detected by X-ray is obviously lower than 9.0 mm, which was adopted by the 2017 JAS FH clinical criteria.
| S-EPMC9174093 | biostudies-literature
Project description:BackgroundAchilles tendon thickening (ATT) can be ameliorated by lowering low-density lipoprotein (LDL) levels in patients with familial hypercholesterolemia (FH). The Japan Atherosclerosis Society (JAS) defines ATT as ≥8.0 mm in males and ≥7.5 mm in females. We aimed to determine the clinical impact of changes in ATT on the development of major adverse cardiovascular events (MACE).MethodsPatients with clinically diagnosed heterozygous FH (HeFH) (N = 1273; 614 males, 659 females) with ATT data from X-ray were assessed. Patients were divided into four groups: patients without ATT from baseline until follow-up (group 1), patients without ATT at baseline but developed ATT at follow-up (group 2), patients with ATT at baseline but regressed at follow-up (group 3), and patients with ATT from baseline until follow-up (group 4). Cox proportional hazard models were used to assess the factors associated with MACE, including cardiovascular death and any coronary events.ResultsOn follow-up (median: 10.9 years), 142 MACEs were observed, and the median ATT regressed from 7.8 to 7.6 mm. Changes in ATT were significantly associated with the occurrence of MACE in all groups, when compared to group 1 (hazard ratio [HR]: 2.73; 95 % confidence interval [CI]: 1.33-4.13 [p < 0.001], HR: 2.18, 95 % CI: 1.08-3.28, [p < 0.001], HR: 6.34, 95 % CI: 3.10-9.58, [p < 0.001], in groups 2, 3, and 4, respectively).ConclusionsAssessing ATT has diagnostic value and allows for risk stratification among patients with HeFH.
| S-EPMC10999807 | biostudies-literature
Project description: Not available
| S-EPMC11846310 | biostudies-literature
Project description:To date, there is no consensus concerning the treatment of acute Achilles tendon ruptures. Although surgical treatment decreases the risk of a recurrent rupture, it is not without complications. In particular, percutaneous sutures may cause a lesion of the sural nerve. The purpose of this Technical Note is to describe a reliable and reproducible surgical procedure for treating these lesions. The first operative phase consists of an ultrasound detection that makes it possible to identify the tendon extremities and the sural nerve, which is necessary to secure the posterolateral arthroscopic tract as well as to perform the percutaneous suture. The entry point is thus centered on the lesion and placed at a distance from any surrounding nerve risk. The second arthroscopic phase makes it possible to release the tendon lesion, control the transtendon passage of the surgical threads, and evaluate the dynamic contact of the tendon edges. At the end of the intervention, the complete disappearance from the transillumination via the rupture also makes it possible to ensure the disappearance of the tendon gap. Achilles tendon percutaneous sutures after the ultrasound detection and under arthroscopic control thus makes it possible to control the contact of the tendon edges, while at the same time decreasing the risk of a lesion of the sural nerve, with minimal scarring.
| S-EPMC6551569 | biostudies-literature
Project description:BackgroundHypercholesterolemia is associated with tendon pathology, but the reasons underpinning this relationship are not well understood. Cholesterol can accumulate in the tendon non-collagenous matrix which may affect both global and local tissue mechanics. Changes to the local strain environment within tendon may have significant implications for mechanosensitive tenocytes. Here, we investigated the association between elevated blood cholesterol and presence of tendon lipids in the Achilles tendon. We expected lipids to be localised in the proteoglycan-rich inter-sub-tendon matrix (ISTM), therefore we also sought to examine the impact of this on the biomechanical and viscoelastic properties of the ISTM.MethodsThe Achilles tendons of 32 young wild-type (SD) and 32 apolipoprotein E knock-out rats (ApoE-/-) were harvested at 15.6 ± 2.3 weeks of age. 32 specimens underwent histological examination to assess the distribution of lipids throughout sub-tendons and ISTM. The remaining specimens were prepared for biomechanical testing, where the ISTM between the gastrocnemius and soleus sub-tendons was subjected to shear load mechanical testing. A sub-set of tests were video recorded to enable a strain analysis.ResultsApoE-/- serum cholesterol was double that of SD rats (mean 2.25 vs. 1.10 mg/ml, p < 0.001) indicating a relatively mild hypercholesterolemia phenotype. Nonetheless, we found histological evidence of esterified lipids in the ISTM and unesterified lipids in the sub-tendons, although the location or intensity of staining was not appreciably different between rat strains. Despite a lack of observable histological differences in lipid content between groups, there were significant differences in the mechanical and viscoelastic behaviour of the Achilles sub-tendon matrix.ConclusionEven slightly elevated cholesterol may result in subtle changes to tendon biomechanical properties and hence injury risk. The young age of our cohort and the mild phenotype of our ApoE-/- rats are likely to have limited our findings and so we also conclude that the ApoE-/- rat model is not well suited for investigating the biomechanical impact of tendon xanthomas on Achilles sub-tendon function.
| S-EPMC10091839 | biostudies-literature
Project description:PurposeAims of this study are to evaluate the current terminology and assess the influence of the latest proposals on the terminology used for Achilles tendon-related disorders in both daily practice and literature.Methods(1) All orthopedic surgeons experienced in the field of foot and ankle surgery of the Ankleplatform Study Group were invited to participate in this survey by email. They were requested to fill out a survey on terminology in six typical cases with Achilles tendon-related disorders. (2) A systematic literature search of Achilles tendon-related disorders was performed in eight foot and ankle journals in Medline, Embase (Classic) from 2000 to 2016. All extracted terms were counted and compared to the terminology proposals, based on anatomic location, symptoms, clinical findings and histopathology.Results(1) In total, 141 of the 283 (50%) orthopedic surgeons responded to the survey. In five out of six cases with Achilles tendon-related disorders, the majority gave an answer according to latest proposals. (2) An overview of terminology used for Achilles tendon-related disorders from 2000 to 2016 shows an increase in use of terminology according to the latest proposals based on anatomic location, symptoms, clinical findings and histopathology.ConclusionThe revised terminology for Achilles tendon-related disorders based on anatomic location, symptoms, clinical findings and histopathology is used by the majority of orthopedic surgeons and is increasingly used in the literature. However, the indistinct Haglund eponyms are still frequently used in Achilles tendon-related terminology.Level of evidenceLevel IV.
| S-EPMC8298365 | biostudies-literature
Project description:Familial hypercholesterolemia (FH) is an inherited metabolic defect leading to increased total cholesterol and low-density cholesterol (LDL) from birth onwards. Homozygous FH, presenting with clear clinical features, has a prevalence of ~ 1 per million. Prevalence of heterozygous FH is 1/500 European population. Atherosclerotic burden depends on the degree and duration of high LDL exposure. In severe cases, early detection is critical, and aggressive lipid-lowering therapies should begin in early childhood to reduce coronary heart disease risk. Pediatric therapeutic concepts correspond to adults and are orientated at LDL plasma concentration. Mean LDL plasma target value during treatment is < 135 mg/dL. Medication in childhood consists of ezetemibe, statins, resins, and PCSK-9 inhibitors, with consideration for age restrictions. Only a minority achieve the treatment target with drug therapy alone. Therapeutic apheresis for the treatment of hypercholesterolemia selectively removes lipoproteins from blood (lipid apheresis (LA)). LA has a long tradition in adult medicine and is also safely used in children by a variety of methods, if customized to special pediatric needs. LA reduces cholesterol levels independently of residual LDL-receptor function and not only achieves reduction or disappearance of xanthomas but also inhibits progression of or mitigates aortic valve stenosis and supravalvular aortic stenosis as well as coronary artery and other atherosclerotic lesions. Cardiovascular prognosis of patients with otherwise untreatable FH depends largely on timely use of LA. Taking into account LA as a lifelong treatment, starting early in childhood, it is important to accommodate therapy modalities, such as treatment frequency and point of time, into the life of the individual.
| S-EPMC9763149 | biostudies-literature
Project description:The Achilles tendon exhibits anatomical variations in subtendon twist among individuals, and its compliance can change due to conditions like Achilles tendinopathy. However, current musculoskeletal models overlook these material and morphological variations. This study aimed to investigate the impact of altering Achilles subtendon insertion points and compliance on the triceps surae muscle forces, and therefore tendon loading, during dynamic exercises in one Achilles tendinopathy patient. First, subtendon insertion points were altered in the musculoskeletal model based on a subject-specific 3D freehand ultrasound model and for three types of subtendon twists: low, medium, and high. Second, tendon compliance was modeled based on experimental values, creating three musculoskeletal models: compliant, mean, and stiff. Results indicated that tendon compliance had a larger effect than tendon twist on triceps surae muscle forces. Altering subtendon insertion points to the three types of twist showed a maximal change of 2.3% in muscle force contribution compared to the no-twist model. During the eccentric rehabilitation exercise-a common exercise choice during rehabilitation-the compliant tendon model showed substantial differences compared to the generic (control) musculoskeletal model, resulting in decreased gastrocnemius medialis (-3.5%) and gastrocnemius lateralis (-3.2%) contributions and increased soleus contribution (+ 6.6%). Our study results highlight the necessity of incorporating tendon compliance in musculoskeletal models to accurately predict triceps surae muscle forces, especially in individuals with increased tendon compliance, such as patients with Achilles tendinopathy. Such findings contribute to more accurate predictions of muscle forces and hence, personalized rehabilitation strategies.
| S-EPMC11291231 | biostudies-literature
Project description:The exponential expansion of genomic data coupled with the lack of appropriate clinical categorization of the variants is posing a major challenge to conventional medications for many common and rare diseases. To narrow this gap and achieve the goals of personalized medicine, a collaborative effort should be made to characterize the genomic variants functionally and clinically with a massive global genomic sequencing of "healthy" subjects from several ethnicities. Familial-based clustered diseases with homogenous genetic backgrounds are amongst the most beneficial tools to help address this challenge. This review will discuss the diagnosis, management, and clinical monitoring of familial hypercholesterolemia patients from a wide angle to cover both the genetic mutations underlying the phenotype, and the pharmacogenomic traits unveiled by the conventional and novel therapeutic approaches. Achieving a drug-related interactive genomic map will potentially benefit populations at risk across the globe who suffer from dyslipidemia.
| S-EPMC8468752 | biostudies-literature