Abstract Background Orthostatic tremor (OT) is a type of postural tremor of the lower extremities that has not been described in either phenylketonuria (PKU) or hyperphenylalaninemia (HPA). Because little is known about the clinical features and therapeutic responses of OT in mild HPA, we describe a mild HPA patient who presented with OT as an initial symptom. Case presentation A 22-year-old male was admitted for bilateral leg tremor while standing, with symptom onset eight months prior. One month before admission, the tremor disappeared in the left leg but persisted in the right leg. Electromyography recorded from the right gastrocnemius revealed a 6–8 Hz tremor, which appeared when the patient was standing and disappeared when he was resting or walking. Blood screening showed a phenylalanine/tyrosine ratio of 2.06 and a phenylalanine level of 140 μmol/L. Urine metabolic screening was negative. Whole-exome sequencing confirmed the presence of a compound heterozygous mutation, c.158G > A and c.728G > A, in phenylalanine hydroxylase (PAH) gene. After three months of levodopa/benserazide tablets (250 mg, tid) and a low-phenylalanine diet treatment, the tremor disappeared. Conclusions Young-onset mild HPA is a relatively rare autosomal recessive metabolic disease, and slow OT is a rare clinical feature. Metabolic screening and genetic testing are the keys to early diagnosis and treatment. For adolescents and young adults, appropriate medication and long-term dietary therapy remain important treatments. This case expanded the disease spectrum of slow OT.

OBJECTIVE:To explore the related factors for the measurement of arterial stiffness by brachial-ankle pulse wave velocity (baPWV) in patients with obstructive sleep apnea hypopnea syndrome (OSAHS).METHODS:The blood pressure and baPWV in 76 patients with OSAHS confirmed by polysomnography (PSG) were measured. Clinical data were collected, and the carotid and extremity arteries were examined by ultrasound. Arterial intima thickening, atherosclerotic plaque formation and calcification, and the morphological changes of the arterial wall were evaluated. The related factors for baPWV in patients with OSAHS were analyzed.RESULTS:The baPWV was significantly higher in the severe OSAHS group as compared to the low-moderate group (P < 0.01), as classified according to the apnea hypopnea index and the lowest oxygen saturation. Multiple regression analysis showed that the baPWV of patients with OSAHS was related to age, oxygen desaturation index and systolic blood pressure (F = 1.726 - 5.574, P < 0.05).CONCLUSIONS:Our study showed that with OSAHS exacerbations, the baPWV value increased. The baPWV of patients with OSAHS was related to age, oxygen desaturation index and systolic blood pressure. The abnormal changes of baPWV were present earlier than the morphological changes of atherosclerosis for OSAHS patients.

Objective To use ultrasound elasticity imaging (UEI) technology for evaluating the elasticity changes of the deep vein thrombosis (DVT) at different stages.Methods Conventional ultrasonic diagnoses were performed in 49 patients with DVT and the patients were divided into acute stage,sub-acute stage,and chronic stage.The elastic image characteristics of the thrombosis were observed at different stages and the strain ratio (B/A) between the muscle tissue around the vein and the thrombosis was calculated.Results (1) In ultrasound elasticity image,the acute thrombosis was mainly red,the sub-acute thrombosis was green,and the chronic thrombosis was blue.(2)The strain ratio of the sub-acute thrombosis group and the chronic thrombosis group were significantly higher than that of the acute thrombosis group(P0.001,P0.05),and the strain ratio of the chronic thrombosis group was significantly higher than that of the sub-acute thrombosis group(P0.05).Conclusion UEI technology can be used to evaluate the elastic changes in different stages of the deep vein thrombosis,and it can help to select treatments for thrombosis and predicting the complications.

Aim: The gait speed is the important index for reflecting the functional recovery in patients after stroke. This study is to assess the reliability and concurrent validity of comfortable and maximal gait speed test in evaluating the walking ability of stroke patients, so as to provide objective evidence for clinical evaluation. Methods: Fifty-five hemiplegic stroke patients after stroke were selected from the Department of Rehabilitation Medicine, General Hospital of Chinese PLA. All the patients were in accordance with the diagnostic criteria of the Fourth National Academic Meeting for Cerebrovascular Disease, had consciousness, could act as the instruction, and could walk over 20 m by themselves or under monitoring. The patients, who had received total joint replacement of whole lower limbs, walking disturbance induced by severe arthritis and other complications that confined the activities of lower limbs, were excluded. All subjects were randomly examined by two of the five independent evaluators within one day to assess inter-rater reliability, and were reexamined for intra-rater reliability by the same evaluator. The patients were measured with Fugl-Meyer assessment (FMA), Berg balance scale (BBS) and measurement of functional independence taken as the validity scale for the study of concurrent validity. Results: In the aspect of reliability, the results of 10-meter comfortable and maximal gait speed tests showed good intrarater and interrater reliability in the two evaluation by the same evaluator (ICC = 0.912 to 0.937) and the same evaluation by different evaluator (ICC = 0.961 to 0.972). In the aspect of concurrent validity, the comfortable and maximal gait speed tests were well correlated with the FMA, BBS and measurement of functional independence r = 0.595 to 0.693, P < 0.001). Conclusion: The comfortable and maximal gait speed tests have good reliability and concurrent validity, and should be used in evaluating the clinical outcomes.

Aim: Evaluation on the physical mobility of stroke patients is important in rehabilitation medicine. This study is to investigate the interrater and intrarater reliability and the concurrent validity of timed "up-go" test(TUGT), so as to provide objective evidence for clinical evaluation. Methods: Forty-seven hemiplegic patients after stroke were selected from the Department of Rehabilitation Medicine, General Hospital of Chinese PLA. All the patients were in accordance with the diagnostic criteria of the Fourth National Academic Meeting for Cerebrovascular Disease, had consciousness and could act as the instruction, and could walk over 20 m by themselves or under monitoring. The patients, who had received total joint replacement of whole lower limbs, with walking disturbance induced by severe arthritis, and other complications that confined the activities of lower limbs, were excluded. All subjects were randomly examined with the TUGT by two of the five independent evaluators within one day to assess inter-rater reliability, and were reexamined for intra-rater reliability by the same evaluator. The equilibrium function, activities of daily life (ADL) and gait speed, measured with Berg balance scale (BBS), maximal gait speed and FIM, were taken as validity scale for study of concurrent validity. Results: In the aspect of reliability, the TUGT showed good intrarater and interrater reliability in the two evaluation by the same evaluator ICC = 0.982 (95% CI: 0.901 to 0.992) and the same evaluation by different evaluator ICC = 0.984 (95% CI: 0.889 to 0.995) . In the aspect of concurrent validity, the TUGT was well correlated with BBS, gait speed and FIM (r = - 0.914 to - 0.646, P < 0.001). Conclusion: TUGT is a reliable instrument with adequate concurrent validity to measure the physical mobility in patients with stroke.

目的:比较结构性速度依赖性平板训练和常规步行训练对脑卒中偏瘫患者下肢运动功能、平衡功能、ADL能力、步行能力和速度的影响.方法:解放军总医院康复医学科2002-09/2004-08收治脑卒中偏瘫患者50例,所有患者均可独立或在监视下步行16 m以上,且步行速度1 min超过10 m,排除存在限制活动的并发症者.将50例脑卒中偏瘫患者分层随机为速度依赖性组(25例)和常规步行训练组(25例).速度依赖性组进行结构速度依赖性平板步行训练治疗,常规步行训练治疗以神经易化技术为主.20 min/次,1次/d,5次/周,连续4周治疗.两组患者仍进行除步行训练以外的其他训练内容.在治疗前、后对两组患者进行下肢Fugl-Meyer运动功能评价、Berg平衡量表、步行功能性分级、功能独立性测量和步行速度的评定.结果:45例患者完成研究,5例脱落.速度依赖性组(23例)和常规步行训练组(22例)经过4周治疗后,两组患者的平衡功能、步行功能、功能独立性和步行速度变化较治疗前均明显改善(P＜0.001),但在平衡功能、步行功能、功能独立性和步行速度方面的改善效果上结构性速度依赖性平板训练比常规步行训练更为有效(ES=0.69～0.89),但在下肢运动功能改善效果方面两者比较差异无显著性意义(ES=0.35).所有参与研究的患者(包括脱落的5例)在训练期间没有出现心脏症状和其他副反应.结论:结构性速度依赖性平板训练比常规步行训练更为有效.在改善脑卒中偏瘫患者功能障碍的训练策略上,结构速度依赖性平板步行训练是一新的,安全可行的治疗方式.

Aim: To explore the correlation of motor function and muscle force of lower limbs, balance and spasm with comfortable and maximal gait speed in hemiplegic patients after stroke, so as to provide objective evidence for the clinical optimization of walking exercise program. Methods: A total of 85 hemiplegic patients after stroke were selected from the Department of Rehabilitation Medicine, General Hospital of Chinese PLA. All the patients were in accordance with the diagnostic criteria of the Fourth National Academic Meeting for Cerebrovascular Disease, had consciousness and could act as the instruction, and could walk over 20 in by themselves or under monitoring. The patients, who had received total joint replacement of whole lower limbs, with walking disturbance induced by severe arthritis, and other complications that confined the activities of lower limbs, were excluded. The 10-meter gait speed of comfortable and maximal gait speed were tested in the 85 hemiplegic patients after stroke with recovery of walking ability, The motor function and strengths of the paretic lower limbs and balance were evaluated with the Fugl-Meyer assessment (FMA), Motricity Index (MI) and Berg balance scale (BBS) respectively. Modified Ashworth scale was used to assess the muscle tone of the plantar flexors. The level of comfortable and maximal gait speeds association with the clinical variables were examined with Pearson' s correlation coefficients and with multiple linear regression analyses by using the stepwise method. Results: Comfortable and maximal gait speeds had highly positive correlation with the motor function, balance and muscle strength of the lower limbs (r = 0.592 to 0.696, P < 0.001) . The muscle tone of the plantar flexors was moderately negatively related to comfortable speed (r = - 0.411, P < 0.05), while had no correlation with the maximal gait speed (r = - 0.311, P = 0.064). The stepwise regression analysis showed that balance, muscle tone of the plantar flexors and muscle strength of lower limbs are the functional damage factors for comfortable speed (R2 = 0.55, P < 0.05), and balance and motor function of lower limbs were those for the maximal gait speed (R2 = 0.535, P < 0.001). Conclusion: The comfortable and maximal gait speeds are affected by different impairments. Balance is the most important impairments to consider in determining comfortable and maximal gait speeds of hemiplegic patients after stroke.