Objective To study the clinical and electrophysiological characteristics of peripheral neuropathy in patients with multiple sclerosis(MS).Methods As a total of 84 MS patients,the clinical and electrophysiological data were analyzed in 16 MS patients with the symptoms of peripheral neuropathy(PNMS group)and in 68 MS patients without peripheral neuropathy(NPNMS group).Results The incidence of peripheral neuropathy was 19.0%(16/84)in this group.The clinical symptoms included extremity numbness in 14 cases(87.5%),limb inertia in 12 cases(75.0%),and radicular pain in 4 cases(25.0%).Signs included decrease of tendon reflex in 15 cases(93.7%),periphery sensory disability in 13 cases(81.2%),and myatrophy in 5 cases(31.2%).The mean age in the PNMS group was(44.6?12.5)years vs.(32.2?11.5)years in the NPNMS group.The course of disease was(39.3?18.3)months vs.(31.6?17.2)months in the NPNMS group,there were significant differences in two groups(P

Objective To evaluate the value of magnetic resonance imaging in diagnosis aortic diseases.Methods Fourty-nine patients with aortic diseases including 20 cases aneurysm,26 cases aortic dissection and 3 cases pseudoaneurysm were examinated with MRI SE and 9 cases of them underwent FFE cine.Results All cases of both groups showed the part,extent and modality of aortic disease.And mensuration the size of aneurysm.Aortic dissection of 26 cases showed aortic double lumen,18 cases showed intimal flap.Entry tears were 7 cases respectively.The involvements of aortic branches were 20 among 9 cases (including 1 case aneurysm and 8 cases aortic dissection)aortic branches respectively.Conclusion Aortic aneurysm and intraaneurysmal architecture can be clearly showed on MRI.MR is one of the optimal imaging techniques in diagnosing aortic disease.

ObjectiveTo investigate the value of serum creatinine(SCr) to monitor the renal function of patients with spinal cord injury(SCI).Methods1298 SCI patients were investigated in Beijing Charity Hospital from January 2004 to May 2009. 249 healthy people were involved as control. The data of SCr were analysed.ResultsThe level of SCr for the SCI patients was (56.81±14.33) μmol/L with normal distribution, 95% CI was 28.73～84.89 μmol/L; The level of SCr for the healthy people was (75.98±11.34) μmol/L, 95% CI was 57.36～101.80 μmol/L. The level of SCr was significantly lower in the SCI patients comparing to the healthy people (P<0.01). Among the SCI patients, the level of SCr was (59.59±13.76) μmol/L for male while (46.41±11.31) μmol/L for female(P<0.05). There was no difference in level of SCr among different ages of the SCI patients(P>0.05). The characteristics were likely in the two groups. There was no difference in level of SCr between paraplegic (55.54±14.96) μmol/L and quadriplegic (57.67±13.83) μmol/L (P>0.05).ConclusionThe characteristics of level of SCr were likely in SCI patients and healthy people with normal distribution. The level of SCr was lower in SCI patients comparing to healthy people, which was higher for male SCI patients comparing to female SCI patients.

Secretory diarrhea provides a major health challenge worldwide, which is one of the most important reasons for children morbidity and death. The activation of Cl- channels in intestinal epithelial cells resulting in the excessive fluid secretion in the intestine is the main reason of diarrhea caused by enterotoxins. In diarrhea caused by cholera and the other bacterial enterotoxins, cystic fibrosis transmembrane conductance regulator ( CFTR) is the main cAMP-control Cl- channel to promote the fluid secretion in epithelial cells. Therefore, CFTR inhibitors are the new choices for secretory diarrhea. CFTR inhibitors include thiazolidinone, glycine hydrazide and quinoxalinedione chemical classes, and some components from natural plants also exhibit CFTR inhibition activity, however, further studies should be done.

Objective To study the effect of designing and application of portable thermometer transceiver and its application. Methods A portable thermometer transceiver was designed and used to measure the temperature of 31,386 patients. Meanwhile, the traditional temperature measurement method was used among 31,378 patients. The two groups were compared in view of time for assigning and collecting the meter. Results The time for assigning the portable thermometer transceiver and receiver was (0.08 ±0.03) min, while that for the traditional measurement method was (1.06 ±0.03) min. There was statistically significant difference between the groups (t=29.231, P<0.001). Conclusion The portable thermometers for temperature measurement can save time and improve the efficiency of nursing staff.

Objective To view and compare the clinical characteristics of renal tubular acidosis in adults and children.Methods Clinical data of patients with renal tubular acidosis diagnosed by Shandong Provincial Hospital affiliated to Shandong University from Jan 1991 to Sep 2017 were reviewed.The difference and consistency in clinical characteristics of renal tubular acidosis between adults and children were analyzed.Results Data from 206 adults and 60 children were analyzed.89.81％ cases in adults were secondary to other diseases,mainly primary Sjogren's syndrome.Most children patients (81.67％) were idiopathic,others largely originated from inherited metabolic diseases.The most common subtype of both was distal renal tubular acidosis.Proximal renal tubular acidosis was easier to be found in idiopathic renal tubular diseases of children.Chief complaints or starting symptoms were mainly composed of polydipsia with polyuria (41.4％) and fatigue (35.3％).Children were typical of growth retardation,rickets and digestive symptoms.The rate of missed diagnosis and misdiagnosis was 41.4 percent.Routine therapy consisted of healing metabolic acidosis and electrolyte disorders,treating underlying diseases and preventing complications.The majority of patients (95.5％) improved after treatments.Conclusions Renal tubular acidosis possesses various underlying diseases,diverse clinical manifestation and high rate of misdiagnosis.Given the high incident of secondary types,investigation of underlying disease,especially autoimmune diseases such as Sjogren's syndrome,is of great importance in adults.Most children patients suffer from primary renal tubular acidosis.Attention should be paid to them in order to reduce the rate of misdiagnosis and teratogenicity.

Objective: To investigate the clinically and genetic characteristics of children with Leigh syndrome. Method: Patients with clinically diagnosed Leigh syndrome(LS)in the department of Neurology, Beijing Children′s Hospital from January 2013 to February 2016 underwent the mitochondrial DNA (mtDNA) and nuclear DNA (nDNA) detecting with next generation sequencing (NGS) technology. The clinical data of gene confirmed cases were retrospectively collected and analyzed. The differences in the onset age, clinical manifestations, lactic acid level and MRI results between the mtDNA variation and nDNA variation were compared and analyzed.t test, Chi-square test and Fisher′s exact test were used for statistical analysis. Result: Thirty-five cases were diagnosed by gene detection, including 20 males and 15 females. The median onset age was 1 year (ranging from the neonatal period to 4.4 years old). The age of onset within 2 years accounted for 74%(26 cases). The onset age of initial symptoms, including developmental delay, developmental regression, and seizures, were 6 (4, 12) months, 12 (8, 14) months, and 6 (1, 23) months respectively. The onset age of ptosis, extrapyramidal symptoms and ataxia were 26 (18, 44) months, 28 (23, 40) months and 28 (19, 35) months, respectively. There were significant differences in the onset age between the three groups (H=21.919, P=0.01). Within the 35 cases, 29 were manifested with developmental delay (83%), 26 with dystonia (74%), 18 with growth retardation, 15 with myasthenia, 13 with developmental regression, 11 with dysphagia, 10 with feeding difficulties, 4 with skeletal dysplasia, and 2 with digestive tract symptoms; nystagmus and respiratory abnormalities were observed in 9 cases respectively; extrapyramidal symptoms, peripheral nerve injury, ptosis, seizures were observed in 8 cases respectively; and ataxia, ophthalmoplegia and hypertrichiasis were found in 5 cases respectively.The blood lactic acid was measured in 32 LS patients, within which 23 cases (72%) had increased results; 8 out of 11 cases who underwent were cerebrospinal fluid lactic acid test had increased results. The results of neuroimaging revealed that all the patients were involved in the brainstem and (or) basal ganglia, of whom 27 (77%) had brainstem involvement, 24 (69%) had basal ganglia involvement. Thirteen out of 14 patients who had medulla oblongata involvement had nDNA variation; while 7 out of 8 patients with cerebellar involvement had nDNA variation. Genetic etiology was confirmed in all patients, among whom there were 17 cases (49%) with mtDNA mutation, including 8993T>C/G (n=5), 14487T>C (n=4), 13513G>A (n=2), 9176T>C, 10158T>C, 3697G>A, 10191T>C, 14459A>G and 11777C>A (n=1) respectively. Remaining 18 cases(51%) had nDNA mutation, including SURF1 gene(n=10), PDHA1 gene(n=3) and one case each of NDUFV1, NDUFAF6, NDUFAF5, NDUFS1 and COQ7 genes. In this study, 27 types of mutations were founded, 15 of which had not been previously reported. Respiratory chain gene mutations have been found in 31 cases(89%); 3 cases had PDHc gene mutations, and 1 case had other mutation. Conclusion LS usually occurs in infants. The most common primary symptoms are age-dependent abnormal movements, ocular symptoms, and seizures. Respiratory chain defects is the most common causes of LS.SURF1 is the most common variation, followed by 8993T>C/G, 14487 T>C and 13513G>A mutation.

Characterized by impaired neuromuscular transmission, congenital myasthenic syndromes (CMS) are a group of genetic disorders.The main manifestations include fatigue and weakness of skeletal muscle, with most onset in infant or early childhood.The common cause of death is respiratory failure, with high disability rate.With the improvement of gene sequencing technology and the in-depth study on the structure and function of pathogenic proteins, the pathogenesis of the disease has been deeply understood in the past 20 years.Early diagnosis and treatment can significantly improve the symptoms in patients.In this manuscript, the etiology, clinical characteristics, diagnosis and treatment of CMS are reviewed.

Developmental coordination disorder (DCD) is a childhood-onset condition that primarily affects physical co-ordination.In China, DCD is not well recognized and is under-treated.Knowledge of the evaluation and intervention of DCD among physiotherapists (PT) is limited.In 2020, the Academy of Pediatric Physical Therapy of the American Physical Therapy Association published the Physical Therapy Management of Children with Developmental Coordination Disorder: An Evidence-Based Clinical Practice Guideline.From the perspective of PT, this review aims to make a comprehensive interpretation of the recommendations in the guideline regarding the physical examination and evaluation, physiotherapy planning and implementation, and family education of children at risk or diagnosed with DCD.This article aims to make DCD get more attention from domestic PT through the interpretation of the latest guidelines, and strengthen the knowledge of physiotherapy assessment and management in children with DCD to guide the clinical practice.