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31.
John M. Opitz Gunnar B. Stickler James F. Reynolds 《American journal of medical genetics. Part A》1987,27(4):971-975
We report on a consanguineous Brazilian couple whose 2 children had tibial aplasia-ectrodactyly. Femoral bifurcation was present in one of the affected children. The relationship of tibial aplasia-ectrodactyly to the Gollop-Wolfgang complex is discussed. Clinical and genetic aspects of the conditions involving tibial aplasia and femoral bifurcation are discussed. 相似文献
32.
Natasha Shur 《American journal of medical genetics. Part A》2019,179(3):429-434
A 2‐month‐old healthy baby presented to the emergency room with an arm that was not moving and was found to have multiple and extensive fractures of her long bones. An extensive medical work‐up was done, and the hospital's multidisciplinary child abuse team was consulted, including child protection, genetics, radiology, and general pediatrics. It was determined that the history, clinical findings, radiographic findings, and laboratory findings were consistent with child abuse. Child protection services removed the child from the home, and for the next 10 months, the infant was well, and did not sustain a single new fracture. At a civil proceeding to determine the infant's custody, an expert witness for the defense concluded that the child had hypermobile Ehlers‐Danlos syndrome and low vitamin D. He stated that because of these conditions, the baby was vulnerable to fractures with routine handling. This is a personal story of a clinical geneticist who explored fracture fact versus fracture fiction and learned about the difference between responsible and irresponsible testimony. This story gives insight into how physicians can prepare to transition from the clinic to the courtroom. It is also a story about how medical experts must and should remain unbiased, evidence‐based, and committed to accuracy and truth. 相似文献
33.
34.
F. L. I. P. Drijber J. B. Finlay T. K. Moroz C. H. Rorabeck 《Medical & biological engineering & computing》1990,28(1):8-14
An investigation was conducted to determine what improvements in the resistance to slippage could be obtained in selected
interfaces (rod/clip torsional, cheek/bowl and cheek/clip) of the Hoffmann external fixator. The modification involved changing
the standard wing-nut clamp for a bolt with a thread of 7 mm and a 1 mm pitch and placing an FAG 28–303 thrust-bearing (needle
roller and cage assembly) between the bolt and the cheek. The results showed a significant improvement in the slippage values
of all interfaces; increases of approximately six times were obtained at all torque values of the wing-nut clamp or fastener
tested. Such improvements would markedly increase the reliability of external fixation systems and thus reduce the incidence
of loss-of-reduction of fracture due to slippage of the universal joint. 相似文献
35.
The effects of external and internal tibial rotation on patellar motion were investigated using a magnetic 3Space® tracker system (Polhemus, Colchester, VT 05446, USA). Seven fresh-frozen adult cadaver knees were used in this study. The muscle alignment of each quadriceps muscle was measured to determine the direction of loading forces. Three loading patterns were used to simulate the unresisted knee extension during sitting, standing from squatting and the stance phase of walking, with different weights applied to each quadriceps muscle at each knee flexion angle. The position of the patella, along with patellar shift, tilt and rotation was measured and compared to external or internal tibial rotation and neutral rotation. In the sitting and squatting simulations the patella showed at the terminal extension of the knee more lateral shift and a more lateral tilt with tibial external rotation than in a neutral position (P < 0.05). In walking simulation, the patella showed more external rotation with external rotation of the tibia than with a neutral one, at the 0, 72 and 90% of the stance phase of walking (P < 0.05). These results demonstrate the importance of external tibial rotation as a factor in the development of patellar dislocations or subluxations, especially in athletes. 相似文献
36.
The anterior talofibular ligament is the most commonly injured ligament in the ankle. Despite considerable interest in the clinical outcome of treatment protocols, we do not know whether the distinctive pattern of localization of the injuries relates to regional differences in the structure and molecular composition of the ligament. To address this issue, ligaments were examined by histology and immunohistochemistry. Differences in the structure of its two attachments (i.e. entheses) were evaluated with quantitative, morphometric techniques, and regional differences in the distribution of collagens, glycosaminoglycans and proteoglycans were determined qualitatively by immunolabelling. Morphometric analyses showed that bone density was less at the fibular attachment, but that enthesis fibrocartilage was more prominent. Immunohistochemistry revealed the presence of a fibrocartilage (containing type II collagen and aggrecan) at the site where the ligament wraps around the lateral talar articular cartilage in a plantarflexed and inverted foot: the fibrocartilage is regarded as an adaptation to resisting compression. We propose that avulsion fractures are less common at the talar end of the ligament because (1) bone density is greater here than at the fibular enthesis, and (2) stress is dissipated away from the talar enthesis by the 'wrap-around' fibrocartilaginous character of the ligament near the talar articular facet. 相似文献
37.
Michael P. Cary Farica Zhuang Rachel Lea Draelos Wei Pan Sathya Amarasekara Brian J. Douthit Yunah Kang Cathleen S. Colón-Emeric 《Journal of the American Medical Directors Association》2021,22(2):291-296
ObjectivesTo evaluate a machine learning model designed to predict mortality for Medicare beneficiaries aged >65 years treated for hip fracture in Inpatient Rehabilitation Facilities (IRFs).DesignRetrospective design/cohort analysis of Centers for Medicare & Medicaid Services Inpatient Rehabilitation Facility–Patient Assessment Instrument data.Setting and ParticipantsA total of 17,140 persons admitted to Medicare-certified IRFs in 2015 following hospitalization for hip fracture.MeasuresPatient characteristics include sociodemographic (age, gender, race, and social support) and clinical factors (functional status at admission, chronic conditions) and IRF length of stay. Outcomes were 30-day and 1-year all-cause mortality. We trained and evaluated 2 classification models, logistic regression and a multilayer perceptron (MLP), to predict the probability of 30-day and 1-year mortality and evaluated the calibration, discrimination, and precision of the models.ResultsFor 30-day mortality, MLP performed well [acc = 0.74, area under the receiver operating characteristic curve (AUROC) = 0.76, avg prec = 0.10, slope = 1.14] as did logistic regression (acc = 0.78, AUROC = 0.76, avg prec = 0.09, slope = 1.20). For 1-year mortality, the performances were similar for both MLP (acc = 0.68, AUROC = 0.75, avg prec = 0.32, slope = 0.96) and logistic regression (acc = 0.68, AUROC = 0.75, avg prec = 0.32, slope = 0.95).Conclusion and ImplicationsA scoring system based on logistic regression may be more feasible to run in current electronic medical records. But MLP models may reduce cognitive burden and increase ability to calibrate to local data, yielding clinical specificity in mortality prediction so that palliative care resources may be allocated more effectively. 相似文献
38.
《Journal of the American Medical Directors Association》2022,23(4):671-677.e4
ObjectivesWe examined whether the comorbidity burden of patients with hip fracture was associated with quality of in-hospital care reflected by fulfillment of process performance measures.DesignPopulation-based cohort study using prospectively collected data from the Danish Multidisciplinary Hip Fracture Registry (DMHFR).Setting and ParticipantsPatients aged 65 years or older with an incident hip fracture from 2014 to 2018 registered in the DMHFR (n = 31,443).MethodsComorbidity was measured using the Charlson Comorbidity Index based on hospital diagnoses. Quality of in-hospital care was defined as fulfillment of eligible process performance measures, including preoperative optimization, early surgery, early mobilization, pain assessment, basic mobility, nutritional risk, need for anti-osteoporotic medication, fall prevention, and a post-discharge rehabilitation program, reflecting guideline-recommended in-hospital care. The outcomes were (1) an all-or-none composite measure defined as fulfillment of all relevant process performance measures, and (2) fulfillment of the individual process performance measures. Using binary regression, we calculated relative risk (RR) for the association between comorbidity level and outcomes.ResultsThe overall proportion of patients with hip fracture who fulfilled the all-or-none measure was 31%. Among patients with no comorbidity, 34% fulfilled the all-or-none measure versus 29% among patients with high comorbidity (Charlson ≥ 3). This corresponds to a 15% lower chance (RR = 0.85, 95% confidence interval 0.81–0.89). Increasing comorbidity was also associated with lower fulfillment of the individual process performance measures. The largest difference was seen for preoperative optimization, early surgery, and early mobilization, where patients with high comorbidity had 6% to 11% lower chance of fulfillment of these process performance measures compared with patients without comorbidity.Conclusion and ImplicationsIncreasing level of comorbidity was associated with lower quality of in-hospital care among patients with hip fracture. Our results highlight the need for tailored clinical initiatives to ensure that comorbid patients also benefit from the positive progress in hip fracture care in recent years. 相似文献
39.
目的:认识多发伤中骨折的主要特点,探讨内固定在救治中的意义。方法:回顾1994-08~1999-08间手术救治多发伤66例,对其161处骨折中的98处进行了“仿AO技术”有关方法内固定。结果:骨折均满意愈合;涉及骨折关节51个,功能恢复满意率为96.08%。结论:在多发伤中,骨折、合并伤与并发症远较“一般骨折”复杂、严重;有效固定骨折是一种重要的救命措施;内固定手术应争取在伤后24h进行,但如受条件制约,伤后1-3wk内手术也可获得满意效果;仿AO技术中的某些方法,如拉力螺钉、张力带钢丝及自动加压钢板等,用于内固定可使骨折获得卓有成效的稳定性。 相似文献
40.
目的探讨应用NT-PC治疗髌骨骨折的方法及治疗结果。方法根据NT-PC结构及固定原理对30例髌骨骨折的治疗。结果30例髌骨骨折髌关节面均达到解剖复位,患者能下地行走,扶栏杆或徒手上下一层楼、屈膝平均达到90°的时间是1.5~3.5周。患膝关节伸、屈活动范围达到健侧水平的时间是2~10周。结论根据NT-PC的特点治疗髌骨骨折,尤其是粉碎性骨折,不但在术中容易得到髌关节面的解剖复位,而且术后能有效地将其维持,固定于解剖位直至骨质愈合。术后可早期活动,无需石膏固定,无膝关节功能障碍。 相似文献