HEREDITARY SYNDROME CONSISTING IN RECURRENT ATTACKS RESEMBLING BRACHIAL PLEXUS NEURITIS, SPECIAL FACIAL FEATURES, AND CLEFT PALATE

ABSTRACT. Erikson, Anders (Department of Paediatrics, Centrallasarettet, Boden, Sweden). Hereditary syndrome consisting in recurrent attacks resembling brachial plexus neuritis, special facial features, and cleft palate. Acta Paediatr Scand, 63: 885, 1974.—A father and his two daughters with recurrent reversible attacks resembling brachial plexus neuritis are presented. In this family cleft palate and a previously described characteristic facial appearance accompanied the disorder. No other abnormalities nor any specific cause of the attacks were found. EMG of shoulder, arm and hand muscles revealed signs of partial denervation. Physiotherapy seemed to accelerate the spontaneous recovery. The condition has a better prognosis than some similar disorders for which it is easily mistaken.     

Adynamia episodica hereditaria: What causes the weakness?

The cause of weakness was investigated in a patient with adynamia episodica hereditaria without myotonia. A pattern of exercise and rest produced episodes of hyperkalemic periodic paralysis. In addition, local muscle weakness was induced by forearm cooling. Investigations on isolated intercostal muscle demonstrated that a high potassium concentration in the bathing solution triggered a noninactivating membrane current causing depolarization of the muscle fibers. This current was carried by sodium as it could be inhibited by tetrodotoxin. The abnormal sodium conductance led to an increase of sodium within the fibers. This was demonstrated directly by intracellular recordings. Weakness induced by rest after exercise and cold-induced weakness appeared to have different pathomechanisms. In the cold, the muscle fibers retained a normal resting potential, but their excitability was reduced and their mechanical threshold was increased. These findings also provide evidence that the mechanism of cold-induced weakness in adynamia episodica is distinctly different from the cold-induced weakness that occurs in paramyotonia congenita.     

Statistical demonstration of minor colour vision abnormalities

Analysis of the results from 94 male and 94 female young normal trichromats on the 100 hue test and the Nagel and Pickford-Nicolson anomaloscopes shows that colour deviant and/or colour weak subjects can be distinguished from the wholly normal bulk by considering the normality of certain test result distributions as well as by considering the combinations between test results considered abnormal. The stated minor abnormalities of colour vision are frequent and their types are those described by Pickford and by Lakowski (never' colour asthenopia). They are recognised by means of the anomaloscopes and not by means of the 100 hue test.     

Distal arthrogryposis: clinical and genetic findings

Aim: Distal arthrogryposis is characterized by congenital contractures predominantly in hands and feet. Mutations in sarcomeric protein genes are involved in several types of distal arthrogryposis. Our aim is to describe clinical and molecular genetic findings in individuals with distal arthrogryposis and evaluate the genotype‐phenotype correlation. Method: We investigated 39 patients from 21 families. Clinical history, including neonatal findings, joint involvement and motor function, was documented. Clinical examination was performed including evaluation of muscle strength. Molecular genetic investigations were carried out in 19 index cases. Muscle biopsies from 17 patients were analysed. Results: A pathogenic mutation was found in six families with 19 affected family members with autosomal dominant inheritance and in one child with sporadic occurrence. In three families and in one child with sporadic form, the identified mutation was de novo. Muscle weakness was found in 17 patients. Ambulation was affected in four patients and hand function in 28. Fourteen patients reported pain related to muscle and joint affection. Conclusion: The clinical findings were highly variable between families and also within families. Mutations in the same gene were found in different syndromes suggesting varying clinical penetrance and expression, and different gene mutations were found in the same clinical syndrome demonstrating genetic heterogeneity.     

IPPB-assisted coughing in neuromuscular disorders

In neuromuscular disorders, reduced peak cough flows (PCFs) are considered to increase the risk of respiratory complications such as pneumonia or chronic atelectasis. Different methods were described to improve PCF. However, these studies were primarily carried out in adults, and there is limited information regarding the use and efficacy of these methods in children with respiratory muscle weakness. The aim of this study was to investigate whether hyperinsufflation with an intermittent positive-pressure breathing (IPPB) device is effective in cough augmentation in pediatric patients. Spirometry (forced inspiratory vital capacity, FIVC; forced expiratory volume in 1 sec, FEV1), respiratory muscle pressures (peak inspiratory pressure, PIP; peak expiratory pressure, PEP), and PCF were measured in 29 schoolchildren with various neuromuscular disorders. IPPB-assisted hyperinsufflation was taught individually to increase lung volumes (maximum insufflation capacity, MIC) above FIVC. The impact of hyperinsufflation on peak cough flow was documented. In 28/29 patients, IPPB-assisted hyperinsufflation enhanced FIVC from 0.68 +/- 0.40 l to an MIC of 1.05 +/- 0.47 l (P < 0.001). Unassisted PCF was 119.0 +/- 57.7 l/min, and increased to 194.5 +/- 74.9 l/min (P < 0.001) in 27/29 patients. This effect was similar in young patients (ages 6-10 years) and older patients (aged >10 years). Augmentation of lung volumes from FIVC to MIC correlated with an increase of PCF (R = 0.42, P < 0.05). IPPB-assisted hyperinsufflation improves PCF in pediatric neuromuscular disorders. The results suggest that this technique can be used to improve clearance of airway secretions and therefore reduce respiratory morbidity in children with NMD.     

基于加涅学习理论的护士ICU获得性衰弱培训方案的构建

目的 构建基于加涅学习理论的ICU获得性衰弱培训方案,为提高ICU护士的ICU获得性衰弱护理水平提供参考。方法 2021年3-8月通过文献回顾、半结构访谈、德尔菲法构建ICU获得性衰弱培训方案。结果 通过2轮专家函询,形成了3个一级指标（培训目标、培训过程与内容、培训形式）、16个二级条目、41个三级条目;2轮专家函询权威系数分别为0.897和0.903,肯德尔和谐系数分别为0.312和0.323（P＜0.01）。结论 基于加涅学习理论的ICU获得性衰弱培训方案具有科学性和可靠性,考虑了护士需求,为护士ICU获得性衰弱培训提供了依据。     

Improvement of hip abductor muscle weakness after lumbar decompressive surgery

Abstract

Introduction. Degenerative lumbar spinal disorder is common in Japan, and the L5 nerve root is commonly involved in this disorder. The symptoms of L5 radiculopathy are irradiating lateral leg pain, and numbness and weakness of tibialis anterior and the hip abductor muscle. There has been only one report on the results of surgery for hip abductor muscle weakness caused by degenerative lumbar spinal disorder.

Patients and methods. In this study, we analyzed the strength of the hip abductor muscle before and after decompressive surgery in 26 cases and the relationship between the lumbar disc herniation (LDH) and lumbar spinal canal stenosis (LSCS) groups.

Results. Of the total 26 cases, muscle strength improved in 23 cases (88%), with complete recovery in 17 cases (65%). In the LDH group, the improvement rate was 92%. In the LSCS group, the improvement rate was 68%. Although the improvement rate for the LDH group was higher than that for the LSCS group, the difference was not significant (P = 0.054).

Discussion. Decompressive surgery may be an effective method to improve hip abductor muscle weakness in degenerative lumbar spinal disorder.     

不同证型腹泻型肠易激综合征患者生存质量评价分析

【目的】探讨肝郁脾虚证和脾胃虚弱证腹泻型肠易激综合征(IBS-D)患者的生存质量及影响因素。【方法】选择符合罗马Ⅲ诊断标准的IBS-D患者共62例,其中肝郁脾虚证32例,脾胃虚弱证30例,使用中华脾胃系疾病患者报告结局量表(PRO量表)之肠易激综合征量表(CGEDPRO-IBS)进行横断面调查。【结果】IBS-D患者肝郁脾虚组患者生存质量自我总评分低于脾胃虚弱组;肝郁脾虚组患者对本病的担心程度、精力与形色、疼痛与不适、心理方面、社会关系等方面以及心理领域和环境领域的严重程度均高于脾胃虚弱组,差异有统计学意义(P0.05)。2组IBS-D患者心理领域得分与精力与形色、疼痛与不适、消化功能等方面和生理领域等呈正相关(P0.05)。IBS-D肝郁脾虚组患者心理领域得分还与独立性领域呈正相关。多元线性回归分析结果显示,2组IBS-D患者生存质量自我总评分均与社会关系方面和环境领域关系最为密切。肝郁脾虚组患者的生存质量自我总评分还与疼痛与不适关系尤为密切。【结论】IBS-D肝郁脾虚组患者生存质量自我总评分低于脾胃虚弱组,在七情应激、心理障碍、社会关系紧张、医疗负担加重等方面的严重程度高于脾胃虚弱组;2组IBS-D患者生存质量均与社会关系和环境领域关系最为密切。     

盆底肌肉生物电刺激结合针刺治疗前列腺电切术后逼尿肌无力体会

目的：探讨盆底肌肉生物电刺激结合针刺治疗经尿道前列腺电切术后逼尿肌无力的-临床疗效。方法：60例经尿道前列腺电切术后患者随机分为观察组和对照组,分别采取基础治疗和盆底肌肉生物反馈电刺激结合针刺治疗,比较两组患者治疗前后最大尿流率（MFR）和膀胱残余尿量。结果：治疗后两组患者最大尿流率（MFR）均高于治疗前,膀胱残余尿量水平均低于治疗前（P〈0．05）,且观察组均显著优于对照组（P〈0．05）。结论：盆底肌肉生物电刺激结合针刺疗法治疗经尿道前列腺电切术后逼尿肌无力疗效确切,值得临床推广。     

Novel High-Quality Sonographic Methods to Diagnose Muscle Wasting in Long-Stay Critically Ill Patients: Shear Wave Elastography,Superb Microvascular Imaging and Contrast-Enhanced Ultrasound

Novel ultrasound (US) methods are required to assess qualitative changes in the quadriceps rectus femoris (QRF) muscle when evaluating mechanically ventilated, long-stay ICU patients with suspected neuromuscular acquired weakness (ICUAW). Our aim was to analyze novel US muscle assessment methods in these patients versus healthy controls by carrying out a prospective observational study. Shear wave elastography (SWE) showed, with a receiver operating characteristic (ROC) curve of 0.972 (95% confidence interval (CI) = 0.916–1.000), that patients increased muscle stiffness associated with muscle fibrosis when diagnosed with ICUAW. We also performed, for the first time, superb microvascular imaging (SMI), which is an innovative US technique designed for imaging microvascularization unseen with color Doppler US, and observed that 53.8% of cases had significantly lower QRF muscle microvascular angiogenic activity than controls (p < 0.001). Finally, we used contrast-enhanced ultrasound (CEUS) to analyze maximum and minimum QRF muscle perfusion and obtained a ROC curve of 0.8, but when used as markers for SMI, their diagnostic capacity increased to 0.988 (CI = 0.965–1) and 0.932 (CI = 0.858–1), respectively. These findings show, for the first time, that these novel sonographic muscle methods should be used for their diagnostic capacity when assessing sarcopenic processes associated with this group of critically ill patients.