Isometric skeletal muscle force measurement in primary myopathies

Introduction: In myopathy patients, it is useful to measure skeletal muscle forces. Conventional methods require voluntary muscle activation, which can be unreliable. We evaluated a device for nonvoluntary force assessment. Methods: We tested 8 patients (unknown myopathy n = 2, inflammatory myopathy, facioscapulohumeral muscular dystrophy, mitochondrial myopathy, dysferlinopathy, multi‐minicore disease, Becker‐Kiener muscular dystrophy, n = 1 each). Isometric twitch torques of ankle dorsiflexors were measured after fibular nerve stimulation. Results: Six patients had decreased torques vs. 8 controls (men: median Newton‐meter 1.6 vs. 5.7, women: 0.2 vs. 3.9, both P < 0.0001). Values correlated with Manual Muscle Test results (r = 0.73; r² = 0.53; P < 0.0001). In weak dorsiflexors, torque could be measured despite lower signal‐to‐noise ratios. In 2 patients with hypertrophy, we measured increased torques. Conclusions: Nonvoluntary muscle force assessment can be used in patients with myopathies, and values correlate with voluntary forces determined by traditional methods. Muscle Nerve 53 : 913–917, 2016     

MDS-UPDRS to assess non-motor symptoms after STN DBS for Parkinson's disease

Objective: To determine if the non-motor sections of the Movement Disorder Society's (MDS) version of the Unified Parkinson's Disease Rating Scale (UPDRS) could supplement the original UPDRS as a patient completed assessment of changes in non-motor symptoms in Parkinson's disease (PD) patients after bilateral subthalamic nucleus (STN) deep brain stimulation (DBS). Methods: Thirty PD patients who underwent bilateral STN DBS were assessed using the total UPDRS and the non-motor sections of the MDS-UPDRS prior to surgery and one year following surgery. This study focuses on non-motor symptoms as assessed by Part I of the UPDRS and Part 1A and 1B of the MDS-UPDRS. Results: One year following surgery, no individual non-motor symptoms or the total mentation score of the UPDRS were significantly changed. In comparison, the MDS-UPDRS showed significant improvements in sleep and urinary problems and a trend towards improvement in anxiety, constipation, daytime sleepiness, fatigue and pain. Conclusions: This study provides evidence that the MDS-UPDRS non-motor sections, when completed by the patients, can supplement the original version of the UPDRS as an effective method of measuring changes in non-motor symptoms after DBS. It also reinforces the benefits of bilateral STN DBS on non-motor symptoms of PD.     

A case of "fresh rupture" after open repair of a ruptured Achilles tendon

We present the case of Achilles tendon rupture in a 54-year-old man while rehabilitating after end-to-end open repair of an acute Achilles tendon rupture. Re-rupture after surgical repair of Achilles tendon is well known. The present case, however, is atypical, because the second rupture occurred significantly proximal to the first rupture. To our knowledge, this is the first time this has been described in English language studies. We have termed this incident a fresh rupture. A gastrocnemius turndown flap was used to repair the fresh rupture, which led to a satisfactory recovery. This case report serves to inform surgeons of the existence of this type of Achilles tendon rupture, while considering the possible etiologies and suggesting a technique that has been shown to be successful in the present case.     

Heterozygous mutations causing partial prohormone convertase 1 deficiency contribute to human obesity

Null mutations in the PCSK1 gene, encoding the proprotein convertase 1/3 (PC1/3), cause recessive monogenic early onset obesity. Frequent coding variants that modestly impair PC1/3 function mildly increase the risk for common obesity. The aim of this study was to determine the contribution of rare functional PCSK1 mutations to obesity. PCSK1 exons were sequenced in 845 nonconsanguineous extremely obese Europeans. Eight novel nonsynonymous PCSK1 mutations were identified, all heterozygous. Seven mutations had a deleterious effect on either the maturation or the enzymatic activity of PC1/3 in cell lines. Of interest, five of these novel mutations, one of the previously described frequent variants (N221D), and the mutation found in an obese mouse model (N222D), affect residues at or near the structural calcium binding site Ca-1. The prevalence of the newly identified mutations was assessed in 6,233 obese and 6,274 lean European adults and children, which showed that carriers of any of these mutations causing partial PCSK1 deficiency had an 8.7-fold higher risk to be obese than wild-type carriers. These results provide the first evidence of an increased risk of obesity in heterozygous carriers of mutations in the PCSK1 gene. Furthermore, mutations causing partial PCSK1 deficiency are present in 0.83% of extreme obesity phenotypes.     

The effect of abdominal and pelvic floor muscle activation on urine flow in women

Introduction and hypothesis

Interruption of urine flow during micturition has been used as an assessment of ability to voluntarily contract the pelvic floor muscles (PFM). However, the PFM are also activated during specific abdominal manoeuvres. This study aimed to assess the effect of similar abdominal manoeuvres on urine flow and compare this with the effect of PFM contraction.

Methods

Eight healthy women, of mixed parity, contracted the abdominal muscles and the PFM during urine flow on separate occasions. Differences in urine flow were compared using paired t tests.

Results

All participants were able to interrupt the urine stream using both muscle activation patterns. There was no difference in the time taken to interrupt urine flow (p?=?0.78) between the two patterns.

Conclusions

These data provide evidence that specific abdominal muscle manoeuvres influence urethral closure in continent women, and this is probably mediated by concurrent activation of PFM during the abdominal task.     

Suture fixation versus cable cerclage of the tuberosities in shoulder arthroplasty-clinical and radiologic results

Background

The most important individual parameter linked to functional outcome following hemiarthroplasty for fractures of the proximal humerus is anatomical healing of the tuberosities. The aim of our study was to evaluate whether the fixation method influences tuberosity healing and functional outcome.

Methods

Twenty-five consecutive patients with acute 4-part fractures of the proximal humerus were treated with hemiarthroplasty and cable fixation of the tuberosities. Twenty-nine previous patients with four-part fractures treated with hemiarthroplasty and suture fixation of the tuberosities were included as a control group. Functional evaluation was measured with the Constant Score 1?year after the operation. Radiographic evaluation included evaluation of the extent of tuberosity healing and head centralisation.

Results

The average Constant Score was 53.2 points in the suture group and 60.9 in the cable group (p?=?0.29). An x-ray evaluation revealed that 40% of the tuberosities in the suture group were anatomically healed versus 75% (p?=?0.027) in the cable group. In the suture group, 44% of the prostheses showed marked superior migration, whereas 25% of the prostheses in the cable group showed such migration (p?=?0.027).

Conclusion

In our collective adding an encircling steel cable for the fixation of the tuberosities resulted in higher anatomical healing rates.     

Effects of compression stockings on sympathetic activity and heart rate variability in individuals with spinal cord injury

Objective

To investigate whether wearing graduated compression stockings (GCS) could affect the sympatho-adrenergic and heart rate variability (HRV) responses at rest and after a strenuous wheelchair exercise in individuals with spinal cord injury (SCI).

Design

Crossover trial.

Setting

Department of Physical Medicine and Rehabilitation, Saint Etienne, France.

Participants

Nine men with SCI (five with low paraplegia: LP, four with high paraplegia: HP).

Interventions

Two maximal wheelchair exercise tests: with and without GCS (21 mmHg).

Main outcome measures

HRV measurements: high frequency (HF), low frequency (LF), and LF/HF ratio. Norepinephrine (NOR) and epinephrine (EPI), at rest and post-exercise. Secondary measures were: blood pressure, heart rate, maximal power output, oxygen uptake, stroke volume, cardiac output, at rest, during and after exercise.

Results

When wearing GCS: LFnu_wavelet-post significantly increased and HFnu_wavelet-post significantly decreased (P < 0.05) in SCI subjects, leading to an enhance ratio of LF_wavelet/HF_wavelet and a significantly increased in NOR_rest (P < 0.05).

Conclusions

GCS induces an enhanced sympathetic activity in individuals with paraplegia, regardless of the level of the injury. Enhanced post-exercise sympathetic activity with GCS may help prevent orthostatic hypotension or post-exercise hypotension.     

Percutaneous fixation of acetabular fractures: computer-assisted determination of safe zones, angles and lengths for screw insertion

Introduction

Percutaneous retrograde screw fixation for acetabular fractures is a demanding procedure due to the complex anatomy of the pelvis and the varying narrow safe bony corridors. Limited information is available on optimal screw placement and the geometry of safe zones for screw insertion in the pelvis.

Methods

Three-dimensional reconstructions of 50 consecutive CT scans of polytrauma patients (35 males, 15 females) were used to introduce three virtual CAD bolts (representing screws) into the anterior column (superior ramus of the pubic bone), posterior column (the ischial bone) and the supraacetabular region, as performed during percutaneous screw fixation. The three-dimensional (3D) position of these screws was evaluated with a computer software (MIMICS) after virtual optimal insertion. The 3D position, the narrowest zone and the distance to the hip joint of the two columns and the supraacetabular region were defined.

Results

The mean maximal screw length for the three virtual screws measured between 107.4 and 148?±?18.7?mm. The narrowest zone of the pelvic bone (superior pubic ramus) had a width of 9.2?±?2.4?mm. The average distances between the bolts and the hip joint were 3.9 and 19.4?±?7.4?mm. For the anterior column (superior pubic ramus) screw, the mean lateral angle to the sagittal midline plane was 39.0?±?3.2° and the mean posterior angle to the transversal midline plane was 15.1?±?4.0°. The mean supraacetabular screw angles measured 22.4?±?3.4° (medial), 35.3?±?4.6° (cranial) and the mean angles for the ischial screw were 12.0?±?5.4° (posterior) and 18.4?±?4.0° (lateral).

Conclusions

The zones for safe screw positioning are very narrow, making percutaneous screw fixation of the acetabulum a challenging procedure. The predefined angles for the most frequently positioned percutaneous screws may aid in preoperative planning, decrease operative and radiation times and help to increase safe insertion of screws.