再发骨质疏松性椎体压缩骨折保守治疗患者出院后生存质量

目的：对比初次和再发骨质疏松性椎体压缩骨折(osteoporotic vertebral compression fractures,OVCFs)患者保 守治疗的生存质量,了解再次骨折对此类患者生存质量各方面的影响。方法：回顾性观察治疗OVCFs后出现再骨折 的患者30名(再骨折组)和同时期行保守治疗OVCFs后未发生再骨折的基本条件相似的患者30例(对照组),比较两组出 院后3个月时SF-36简明健康健康状况调查表的调查结果。结果：再骨折组治疗后的8个维度均不同程度较对照组变差 (均P<0.01)。结论：再骨折组患者的生存质量明显低于对照组,并且会进一步影响患者的心理预期、情绪和社会活动 的各个方面。     

The natural history of a genetic subtype of arrhythmogenic right ventricular cardiomyopathy caused by a p.S358L mutation in TMEM43

To determine the phenotype and natural history of a founder genetic subtype of autosomal dominant arrhythmogenic right ventricular cardiomyopathy (ARVC) caused by a p.S358L mutation in TMEM43. The age of onset of cardiac symptoms, clinical events and test abnormalities were studied in 412 subjects (258 affected and 154 unaffected), all of which occurred in affected males significantly earlier and more often than unaffected males. Affected males were hospitalized four times more often than affected females (p ≤ 0.0001) and died younger (p ≤ 0.001). The temporal sequence from symptoms onset to death was prolonged in affected females by 1–2 decades. The most prevalent electrocardiogram (ECG) manifestation was poor R wave progression (PRWP), with affected males twice as likely to develop PRWP as affected females (p ≤ 0.05). Left ventricular enlargement (LVE) occurred in 43% of affected subjects, with 11% fulfilling criteria for dilated cardiomyopathy. Ventricular ectopy on Holter monitor was common and occurred early: the most diagnostically useful clinical test. No symptom or test could rule out diagnosis. This ARVC subtype is a sex‐influenced lethal arrhythmogenic cardiomyopathy, with a unique ECG finding, LV dilatation, heart failure and early death, where molecular pre‐symptomatic diagnosis has the greatest clinical utility.     

Molecular characterization of human factor XSan Antonio

Enzymatic amplification technique was used to isolate all eight exons and sequences around the splice junctions, putative promoter, and polyadenylation sites of human factor X DNA from a patient with factor X deficiency. Two genetic changes in factor X have been observed in this patient. The patient is most likely a compound heterozygote since there is only 14% activity associated with factor X. A point mutation that resulted in the substitution of cysteine (TGC) for arginine (CGC) at amino acid 366 was found in exon VIII of one allele of the factor X gene. This mutation, which occurs in the catalytic domain, can affect the formation of a disulfide bridge and thus could result in a reduction in factor X activity. Sequencing all the regions revealed a second mutation: a deletion of one nucleotide (TCCT to TCT) in exon VII that would cause a frame shift at amino acid 272 followed by termination. We have also shown that the point mutation in exon VIII creates an ApaL1 restriction site and destroys the HinP1 site. Enzymatic DNA amplification followed by restriction digestion provides a quick, reliable, and sensitive method for carrier detection and antenatal diagnosis in affected kindreds. This is the first characterization of factor X deficiency at the molecular level. We propose to name this mutation Factor XSan Antonio.     

Activation of the coagulation cascade after infusion of a factor XI concentrate in congenitally deficient patients

Virally inactivated, high-purity factor XI concentrates are available for treatment of patients with factor XI deficiency. However, preliminary experience indicates that some preparations may be thrombogenic. We evaluated whether a highly purified concentrate produced signs of activation of the coagulation cascade in two patients with severe factor XI deficiency infused before and after surgery. Signs of heightened enzymatic activity of the common pathway of coagulation (elevated plasma levels of prothrombin fragment 1 + 2 and fibrinopeptide A) developed in the early post-infusion period, accompanied by more delayed signs of fibrin formation with secondary hyperfibrinolysis (elevated D-dimer and plasmin-antiplasmin complex). These changes occurred in both patients, but were more severe in the older patient with breast cancer when she underwent surgery, being accompanied by fibrinogen and platelet consumption. There were no concomitant signs of heightened activity of the factor VII-tissue factor mechanism on the factor Xase complex (plasma levels of activated factor VII and of factor IX and X activation peptides did not increase). The observed changes in biochemical markers of coagulation activation indicate that concentrate infusions increased thrombin generation and activity and that such changes were magnified by malignancy and surgery. Because some factor XI concentrates may be thrombogenic, they should be used with caution, especially in patients with other risk factors for thrombosis.     

Clinical evaluation of music perception,appraisal and experience in cochlear implant users

Objectives: The objectives were to evaluate the relationships among music perception, appraisal, and experience in cochlear implant users in multiple clinical settings and to examine the viability of two assessments designed for clinical use. Design: Background questionnaires (IMBQ) were administered by audiologists in 14 clinics in the United States and Canada. The CAMP included tests of pitch-direction discrimination, and melody and timbre recognition. The IMBQ queried users on prior musical involvement, music listening habits pre and post implant, and music appraisals. Study sample: One-hundred forty-five users of Advanced Bionics and Cochlear Ltd cochlear implants. Results: Performance on pitch direction discrimination, melody recognition, and timbre recognition tests were consistent with previous studies with smaller cohorts, as well as with more extensive protocols conducted in other centers. Relationships between perceptual accuracy and music enjoyment were weak, suggesting that perception and appraisal are relatively independent for CI users. Conclusions: Perceptual abilities as measured by the CAMP had little to no relationship with music appraisals and little relationship with musical experience. The CAMP and IMBQ are feasible for routine clinical use, providing results consistent with previous thorough laboratory-based investigations.     

Cycling with Functional Electrical Stimulation Before and After a Distal Femur Fracture in a Man with Paraplegia

Case Presentation:

A man with chronic paraplegia sustained a distal femur fracture following an unrelated fall while enrolled in a study examining musculoskeletal changes after 6 months of cycling with functional electrical stimulation (FES). After healing, he restarted and completed the study.

Management and Outcome:

Study measures included areal bone mineral density, trabecular bone microarchitecture, cortical bone macroarchitecture, serum bone formation/resorption markers, and muscle volume. The patient made small gains in bone- and muscle-related measures. Bone markers had not returned to baseline prior to restarting cycling, which may have impacted results.

Discussion:

This case shows that cycling with FES may be safely resumed after distal femur fracture.Key words: bone, cycling, fracture, functional electrical stimulation, spinal cord injuryCycling with functional electrical stimulation (FES) is an intervention for people with spinal cord injury (SCI) that is often used to improve overall health by targeting fitness, bone density, muscle volume, and other health indicators that impact risk for metabolic syndrome, diabetes, and cardiovascular disease.^1–6 Inclusion in FES cycling programs is often impacted by bone status; programs and studies may exclude people with bone density that is a predetermined standard deviation below normal.^7,8 Other programs base exclusion on lower extremity fracture history.^9,10Even though people are excluded due to concerns about fractures during interventions, there is no evidence to support an increased fracture risk with FES cycling, with or without a fracture history. One study reported greater shear and less compressive forces at the knee with standing versus seated electrical stimulated exercise, suggesting greater risk with the knee flexed to 90°.¹¹ However, the only fracture reported in the literature occurred during a high force flexed isometric contraction,¹² not cycling. For people with SCI, lower extremity fractures typically occur during nontraumatic activities such as transfers^13,14 and are labeled fragility fractures,¹⁵ with the majority occurring in the distal femur and proximal tibia.^13,14 These fractures are thus caused by a different mechanism than what may occur during FES cycling. Furthermore, people with a history of low bone density and fragility fractures may have the greatest benefit from interventions such as FES cycling to decrease fracture risk by improving bone health.This case report describes the outcomes for a man with chronic paraplegia who sustained an unrelated distal femur fracture while enrolled in an FES cycling study. There are 2 objectives of this case report. The first is to demonstrate that FES cycling can be safely resumed following fracture healing, and the second is to discuss the subject’s musculoskeletal outcomes after he restarted the study once medically cleared after fracture healing.