Decreased expression of DMPK: correlation with CTG repeat expansion and fibre type composition in myotonic dystrophy type 1

Abstract Myotonic dystrophy type 1 (DM1) is an autosomal dominant disease caused by a trinucleotide repeatexpansion, cytosine-thymine-guanine (CTG)_n, in the 3′ untranslated region of a gene encoding the myotonic dystrophy protein kinase (DMPK). To correlate CTG expansion and protein expression, we studied muscle specimens from 16 adult DM1 patients using three anti-DMPK antibodies for immunoblotting. We estimated the amount of the full-length DMPK (85 kDa) in muscle biopsies from normal controls and from DM1 patients carrying different (CTG)_n expansions. We found that DMPK concentration was decreased to about 50% in DM patients’ muscles; the protein decrease did not seem correlated with the CTG repeat length. However, the fibre type composition in skeletal muscle seemed somehow to affect DMPK decrease, as the lowest level of the enzyme was found in patients with the lowest content of type 1 fibre.     

Comparison of near heterophoria tests under varying conditions on an adult sample

PURPOSE: This study compared the near phoria measurement using the Bernell muscle balance card with and without prism neutralization, using both trial frame and phoropter correction, and compared with the conventional Maddox rod method. METHODS: Forty young normal Chinese adults had their near phoria measured with trial frame correction using the conventional muscle balance card method (method 1). Any deviation was compensated with a prism bar as an alternative approach (method 2). The conventional Maddox rod method (method 3) was also carried out for comparison. These three methods were repeated with phoropter correction and considered as methods 4, 5 and 6. RESULTS: The phorias obtained from these six methods were not significantly different from each other (repeated measures anova, p > 0.05). More than half of the subjects were exophoric. Although the difference in phoria was not significant, phoria measurement using phoropter correction yielded a greater coefficient of variation. CONCLUSIONS: Near phoria measurement using the muscle balance card conducted with trial frame correction was less variable, and was also more natural and similar to a real reading situation. The use of prism for compensation did not affect the phoria results. Exophoria seems to be more common than esophoria in young Chinese adults.     

Effects of ageing on the total number of muscle fibers and motoneurons of the tibialis anterior and soleus muscles in the rat

The age-related changes in the total number of muscle fibers and motoneurons of the tibialis anterior and soleus muscles were studied using 10-, 65-, and 135-week-old rats. The number of fast twitch muscle fibers was decreased at age 65 weeks, while the numbers of slow twitch fibers and of alpha motoneurons were decreased only later, at age 135 weeks. Therefore, the degenerative process of muscle fibers differs with the fiber type.     

慢性盆腔痛的腹腔镜诊治

目的 探讨腹腔镜在慢性盆腔痛(CPP)诊治中的应用。方法 对105例CPP患者行腹腔镜检查和治疗，术前均行B超检查。进行病例回顾性分析。结果 腹腔镜证实有病理改变者占95．24％。其中子宫内膜异位症56例，占53．33％，治疗有效率92．86％；慢性盆腔炎27例，占25．23％，治疗有效率88．89％：盆腔静脉瘀血症7例，占6．67％，治疗有效率57．14％；盆腔粘连10例，占9．52％，治疗有效率100．00％。术前B超发现病理改变并经腹腔镜证实者28例，占26．67％，准确率为28．00％。结论 腹腔镜能够明确CPP的病因，并能即时检测和治疗，可作为CPP诊治的常规和首选手段。     

Treatment Outcomes in Spontaneous Intracranial Hypotension: Do Epidural Blood Patches Stop the Leaks?

Abstract:   Spontaneous intracranial hypotension (SIH) is a postural headache syndrome unrelated to dural puncture. Because of the increasing failure of epidural blood patch (EBP) to relieve headache in SIH, we retrospectively investigated the epidemiological features and treatment outcomes in 55 cases of SIH. The study population was stratified by age and sex; continuous variables were compared for differences by t -tests; categorical variables were compared by Chi-squared analysis or Fisher exact tests. Significant differences were identified by P values of 0.05 or less. The mean age of the study population was 44 ± 12 years with a female to male ratio of 1.3:1.0. Men presented with subdural hematomas ( P  = 0.001) more often than women. Meningeal enhancement on contrast magnetic resonance imaging (MRI) was the most consistent radiographic finding. Radionuclide cisternography (RC) demonstrated thoracolumbar dural leaks in 16 of 22 patients. EBP failures were more common in patients aged 40 and younger than in older patients ( P  = 0.003). Postural headache from SIH was not uniformly responsive to EBP, and had significant comorbidities, especially in men. The management of postural headache in SIH by other techniques to restore brain position and cerebrospinal fluid dynamics should be investigated.     

泰勒宁片和科洛曲片用于隆乳术后镇痛的比较

目的:评价泰勒宁片和科洛曲片对隆乳手术后疼痛的疗效和不良反应。方法:采用随机开放平行对照试验。共完成60例,其中A组30例予泰勒宁片,单次1片;B组30例予科洛曲片,单次1片。结果:泰勒宁片对隆乳手术后引起的中度或重度疼痛总有效率可达96.7%,科洛曲片的总有效率可达83.3%。服药后泰勒宁片组的疼痛强度差均高于科洛曲组,经统计学处理,有显著性差异(P<0.05)。不良反应发生率较科洛曲片组高。结论:泰勒宁片为中强度镇痛药,对于隆乳手术后引起的中重度疼痛有良好的镇痛效果。     

Impaired modulation of motor cortex excitability by homonymous and heteronymous muscle afferents in focal hand dystonia.

A decrease of heteronymous median nerve-evoked inhibition of corticospinal projections to forearm extensor muscles was reported in a group of 10 dystonic patients by Bertolasi and colleagues in 2003. Here we tested the excitability of corticomotoneuronal connections to both wrist extensor (ECR) and flexor (FCR) muscles after conditioning stimulation of median and also radial nerve at rest in a group of 25 patients with focal hand dystonia compared to 20 healthy subjects. We also investigated the effect of the wrist dystonic posture, either in flexion or in extension, on the afferent modulation of ECR and FCR motor evolved potentials (MEPs). The heteronymous (median-induced) but also homonymous (radial-induced) inhibitions (interstimuli intervals 13-21 ms) of ECR MEP size observed in healthy subjects were decreased in patients. In addition, homonymous (median-induced) facilitation of FCR MEP size was also decreased in patients while heteronymous inhibition (radial-induced) was not. Neither the involvement of the target muscle in the dystonic posture nor the origin of the afferent volley (from a dystonic muscle) influenced the degree of impairment of afferent modulation of the MEP. These findings support the view that a global abnormal somatosensory coupling in focal hand dystonia may contribute to an inadequate motor command to wrist muscles.     

放射治疗71例骨转移癌止痛效果分析

目的观察低于常规剂量的2种分割方式治疗骨转移性疼痛的疗效。方法71例恶性肿瘤晚期骨转移患者,总计93处骨转移灶,根据疼痛程度及行动受限程度,采取2种均低于常规剂量的分割方式进行放射治疗,分别为Dm30Gy/10f/2W,Dm30Gy/6f/2W。观察疼痛缓解情况。结果2种分割方式止痛有效率分别为88%、95%。两组间无显著差异性(P>0.05)。与国内多数文献报告的结果接近。结论低于常规剂量的分割方式对转移性骨痛疗效与常规剂量的分割方式的疗效相当,且简便易行。     

Can Electrocardiographic Criteria Predict Adverse Cardiac Events and Positive Cardiac Markers?

OBJECTIVES: To determine electrocardiogram (ECG) predictors of positive cardiac markers and short-term adverse cardiac events in an undifferentiated chest pain population presenting to emergency departments (EDs). The authors hypothesized that specific ECG findings, other than those previously identified in higher-risk populations, would be predictive of cardiac outcomes and positive cardiac markers. METHODS: This study used data from a prospectively collected, retrospectively analyzed Internet-based data registry of undifferentiated chest pain patients (i*trACS). Logistic regression modeling was performed to determine the ECG findings that were predictive of 1) positive cardiac markers and 2) short-term adverse cardiac events. RESULTS: ST-segment elevation (STE), ST-segment depression (STD), pathological Q-waves (PQW), and T-wave inversion were associated with increased odds of percutaneous coronary intervention or catheterization, myocardial infarction, or coronary artery bypass grafting. The odds of creatine kinase-MB (CK-MB) measuring positive were increased if STE, STD, or PQW were present [odds ratio (OR) 2.495, 2.582, and 1.295, respectively]. A right bundle branch block tended to decrease the odds of CK-MB measuring positive (OR 0.658). A similar pattern of results was observed for troponin I (OR 3.608 for STE, 3.72 for STD, 1.538 for PQW). Troponin T showed an increased odds of measuring positive if any of STE, STD, left bundle branch block, or T-wave inversion were evident (OR 2.313, 2.816, 1.80, and 1.449, respectively). CONCLUSIONS: Initial ECG criteria can be used to predict short-term cardiac outcomes and positive cardiac markers. These findings can be important aids in the risk-stratification and aggressive treatment regimens of chest pain patients presenting to EDs.     

Treatment of cremaster synkinesias with botulinum toxin A: a video case report.

Synkinesias secondary to nerve lesions and aberrant re-innervation are well-known phenomena especially after lesions of the facial nerve. Synkinesias can successfully be treated with botulinum toxin A (BTx A). Synkinesias of the cremaster muscle have not been described or treated to date. We present the case of a 62-year-old man who developed synkinesias of both cremaster muscles after extensive laparatomy for esophageal cancer. Treatment of synkinesias with various oral medications had been unsuccessful. Electromyography-guided injections of BTx A in both cremaster muscles (15 MU on the right and 10 on the left) led to significant symptom relief for an average of 8 weeks. We present the case including pre- and posttreatment video clips.