携带同源重组修复相关基因突变的消化道肿瘤的临床特点

目的:探讨消化道肿瘤中同源重组修复相关基因(homologous recombination repair related gene，HRR)突变的发生情况及临床意义。方法:共92例消化道肿瘤患者，79例患者进行了血液标本HRR检测，53例患者进行了组织标本HRR检测，40例患者同时行血液和组织的HRR基因检测，收集患者基因检测结果及临床相关资料。结果:在79例患者血液标本检测中发现10例（12.6%）有临床意义HRR突变，在53例患者组织标本检测中发现9例（17.0%）有临床意义HRR突变。40例同时行血液和组织的HRR基因检测患者中常见的有临床意义HRR突变为CDK12突变4例（10.0%）、ATM突变3例（7.5%）、BRCA1突变2例（5.0%）。13例有临床意义HRR突变患者中常见共存突变为TP53突变10例（76.9%）、APC突变5例（38.5%）、PIK3CA突变4例（30.8%）。40例患者中13例患者血液和/或组织中有临床意义HRR突变，27例患者血液和组织中均无任何临床意义HRR突变且两组相比，有临床意义HRR突变组肿瘤突变负荷（tumor mutational burden，TMB）为6.17(2.24～11.52)，而未携带HRR突变组TMB为0.4(0～3.75)，差异有统计学意义（P＜0.05）。40例患者组织检测中7例HRR有临床意义的突变，33例无HRR突变，血液检测中10例HRR有临床意义的突变，30例无HRR突变，一致性检验的Kappa值为0.333（P=0.031）。结论:携带有临床意义HRR突变的消化道肿瘤患者TMB更高，血液和组织检测HRR突变有较好的一致性。     

Recreational runners with Achilles tendinopathy have clinically detectable impairments: A case-control study

ObjectivesTo confirm what impairments are present in runners with Achilles tendinopathy (AT) and explore the variance of AT severity in an adequately powered study.DesignCase-control study.SettingTwo private physiotherapy clinics in Australia and Spain.ParticipantsForty-four recreational male runners with AT and 44 healthy controls matched by age, height, and weight.Main outcome measuresDemographics, activity (IPAQ-SF), pain and function (VISA-A), pain during hopping (Hop pain VAS), hopping duration, psychological factors (TSK-11, PASS20), and physical tests regarding lower-limb maximal strength and endurance.ResultsBody mass index (BMI), activity, VISA-A, pain, and duration of hopping, TSK-11, PASS20, standing heel raise to failure, seated heel raise and leg extension 6RM, hip extension and abduction isometric torque were significantly different between groups (P < 0.05) with varied effect sizes (V = 0.22, d range = 0.05–4.18). 46% of AT severity variance was explained by higher BMI (β = −0.41; p = 0.001), weaker leg curl 6RM (β = 0.32; p = 0.009), and higher pain during hopping (β = −0.43; p = 0.001).ConclusionRunners with AT had lower activity levels, lower soleus strength, and were less tall. BMI, pain during hopping, and leg curl strength explained condition severity. This information, identified with clinically applicable tools, may guide clinical assessment, and inform intervention development.     

何首乌致药物性肝损伤的病理学特点

目的了解何首乌致药物性肝损伤(Polygonum multiflorum-associated drug induce liver injury,PM-DILI)的临床病理学特点。方法收集2019年3月1日至2021年3月1日深圳市第三人民医院收治的8例PM-DILI患者临床资料。肝穿组织进行苏木素-伊红染色、网状纤维染色、Masson三色染色、铁、铜特殊染色和免疫组织化学染色,显微镜下观察分析。结果8例PM-DILI患者男女比为1∶1,平均年龄43岁,其中6例为急性PM-DILI,2例慢性为PM-DILI。入院血清学检查异常主要包括转氨酶升高和淤胆均为7例。主要组织病理学改变为点灶状坏死8例、界面炎5例、融合坏死4例,融合坏死以肝腺泡3带为主,不伴或伴少数炎细胞浸润;胆汁淤积5例,为肝腺泡3带的肝细胞、毛细胆管内淤胆,不伴或伴少数炎细胞浸润;中央静脉炎3例;病程长者可发生肝纤维化,甚至肝硬化2例。结论肝腺泡3带为主的急性淤胆和肝细胞坏死是PM-DILI主要组织学表现,严重者可发生静脉炎等血管损伤。     

Return to sport and beyond following intramuscular tendon hamstring injury: A case report of an English Premier League football player

BackgroundHamstring strain injuries are the most common type of injury in elite football and are associated with a high risk of reinjury, particularly those involving the intramuscular tendon (IMT). Limited information is available regarding the rehabilitation and return to sport (RTS) processes following such injuries. This case study describes the clinical presentation of an elite football player following IMT hamstring injury, their on- and off-pitch rehabilitation alongside performance monitoring throughout RTS and beyond.Case scenarioAn elite football player suffered a grade 2c hamstring injury during an English Premier League (EPL) match. The player underwent early post-injury management, alongside progressive off-pitch physical preparation. The ‘control-chaos continuum’ was used as a framework for on-pitch rehabilitation to prepare the player for a return to full team training and competition. Objective and subjective markers of the player's response to progressive on- and off-pitch loading were monitored throughout RTS and beyond.OutcomesThe player returned to on-pitch rehabilitation after 11 days, to full team training having achieved weekly pre-injury chronic running load outputs after 35 days and played in the EPL 40 days post-injury. The player did not suffer reinjury for the rest of the EPL season.ConclusionAn understanding the unique structural and mechanical properties of the IMT, alongside expected RTS timeframes are important to inform rehabilitation and decision-making processes post-injury. Performance and frequent load-response monitoring throughout RTS and beyond, in conjunction with practitioner experience and effective communication are critical in facilitating effective RTS and reduce risk of reinjury following IMT injury.     

Quantification of myocardial fibrosis using noninvasive T2-mapping magnetic resonance imaging: Preclinical models of aging and pressure overload

Noninvasive imaging of cardiac fibrosis is important for early diagnosis and intervention in chronic heart diseases. Here, we investigated whether noninvasive, contrast agent-free MRI T₂-mapping can quantify myocardial fibrosis in preclinical models of aging and pressure overload. Myocardial fibrosis and remodeling were analyzed in two animal models: (i) aging (15-month-old male CF-1 mice vs. young 6- to 8-week-old mice), and (ii) pressure overload (PO; by transverse aortic constriction in 4- to 5-month-old male C57BL/6 mice vs. sham-operated for 14 days). In vivo T₂-mapping was performed by acquiring data during the isovolumic and early diastolic phases, with a modified respiratory and ECG-triggered multiecho TurboRARE sequence on a 7-T MRI. Cine MRI provided cardiac morphology and function. A quantitative segmentation method was developed to analyze the in vivo T₂-maps of hearts at midventricle, apex, and basal regions. The cardiac fibrosis area was analyzed ex vivo by picro sirius red (PSR) staining. Both aged and pressure-overloaded hearts developed significant myocardial contractile dysfunction, cardiac hypertrophy, and interstitial fibrosis. The aged mice had two phenotypes, fibrotic and mild-fibrotic. Notably, the aged fibrotic subgroup and the PO mice showed a marked decrease in T₂ relaxation times (25.3 ± 0.6 in aged vs. 29.9 ± 0.7 ms in young mice, p = 0.002; and 24.3 ± 1.7 in PO vs. 28.7 ± 0.7 ms in shams, p = 0.05). However, no significant difference in T₂ was detected between the aged mild-fibrotic subgroup and the young mice. Accordingly, an inverse correlation between myocardial fibrosis percentage (FP) and T₂ relaxation time was derived (R² = 0.98): T₂ (ms) = 30.45 – 1.05 × FP. Thus, these results demonstrate a statistical agreement between T₂-map–quantified fibrosis and PSR staining in two different clinically relevant animal models. In conclusion, T₂-mapping MRI is a promising noninvasive contrast agent-free quantitative technique to characterize myocardial fibrosis.