Objective To explore the clinical features of Kennedy disease .Methods The clinical data of 3 patients with Kennedy disease was respectively analyzed .Results All three patients were middle-aged male and had a chronic onset .Patients were mainly presented with the muscle weakness and fasciculation in the proximal limb and bulbar , and the symptoms grow progressively .Two patients were hyperplasia of mammary glands , 3 patients had high levels of serum creatine kinase , and 2 patients'serum testosterone level was increased .EMG detected a widespread neuronal damage in all three cases , and the sensory conductions were abnormal in 2 patients.Repeat numbers of CAG in exon 1 of androgen receptor gene of 2 patients were tested, and they were 57, 47 respectively.Conclusions The clinical features of Kennedy disease are muscle weakness and androgen insensitivity syndrome in male patient and EMG presented with motor neuron damaged .Repeat number of CAG in exon 1 of androgen receptor gene is increased.

Objective To study the clinical and electrophysiological features of the patients with hereditary neuropathy with liability to pressure palsy ( HNPP) diagnosed by gene analysis.Methods Seven patients from two HNPP families were assessed on medical history, physical examination, electrophysiology findings and gene analysis.Results A clinical manifestation of acute, painless, recurrent peripheral nerve palsies was typical for HNPP.Median, ulnar and peroneal nerves were usually affected.Electrophysiology study revealed that prolonged distal motor latency and slowing nerve conduction velocity were prominent.Gene studies exhibited a deletion of the peripheral myelination protein 22 gene in all the seven patients.Conclusions HNPP usually affects areas where nerves are subject to entrapment, and many episodes are preceded by minor compression on the affected nerve.As a reliable screening tool in detecting HNPP, the electrophysiological study shows that segmental demyelination is most commonly seen at common nerve entrapment sites.

Objective To study the value of magnetic resonance imaging (MRI)in diagnosis of cubital tunnel syndrome (CuTS). Methods We studied the findings of electrophysiological examination and MRI in 30 elbows of 23 patients with CuTS and 15 elbows of 1 5 controls.We observed the motor conduction velocity (MCV),cross sectional area (CSA)and relative signal intensity (RSI)of the ulnar nerve acrossing the elbow at the point of largest size proximal to the entrapment point (CSA1 ,RSI1 )and the entrapment point (CSA2 ,RSI2 ).Then we calculated the ratio of CSA (CSAR=CSA1/CSA2 ),and the ratio of RSI (RSIR=RSI1/RSI2 ).Results The value of CSA1 and RSI1 was significantly greater than CSA2 ,RSI2 in the patient group (P<0.05).The value of CSA1 ,RSI1 , CSAR and RSIR in patients were significantly larger than that in controls (P<0.05).MCV was negatively correlated with CSA1 and CSAR in the patient group (r=-0.62,r=-0.53).There were no correlation between MCV and RSI1 ,RSIR in the patient group. The area under ROC curve of CSAR was the largest 0.94 (95% CI,0.83-1).The optimum cutoff point of CSAR was 1.83.The CSAR had sensitivity of 93.3% and specificity of 80% in diagnosis of CuTS.Conclusion MRI combined with the electrophysiologi-cal examination shows a high accuracy of locating the entrapment point of ulnar never lesion at the elbow.The CSAR of the ulnar nerve is the best MRI parameters in diagnosis of CuTS.

Objective To investigate the status of knowledge and performance on Chinese Heart Failure Diagnosis and Treatment Guideline (2014 version) in general practitioners of Shanghai Pudong communities.Methods The survey was conducted from April to June in 2014 with a self-designed questionnaire.Total 390 general practitioners (GPs) in Pudong New Area were selected by cluster sampling method.The contents of questionnaire included:diagnosis and differential diagnosis,drug therapy,non drug therapy of chronic heart failure.Result Total 385 questionnaires were retrieved with a response rate of 98.7％ (385/390).The results showed that in aspect of diagnosis and differential diagnosis,373 (96.9％) Gps made the diagnosis based on history and physical examination,171 (44.4％)Gps never used BNP or NTPro-BNP tests,280 (72.7％)GPs did not know how to identify systolic or diastolic heart failure,86 (22.3％)Gps made the differential diagnosis according to the EF value.In aspects of drug therapy,the rate of beta blockers use was 10％-30％ in 284 (73.8％) Gps,149 (38.7％) Gps did not use beta blockers because of not knowing the contraindications,289 (75.1％) Gps used a maximum dose of betaloc for 25-50 mg,no one used 101-200 mg,242 (62.9％)Gps did not know the target dose of betaloc,the rate of ACEI/ARB use was 10％-30％ in 330 (85.7％) Gps,258 (67.0％) Gps would increase the dose but not knowing the target dose.The main reason for not using the target dose of Betaloc and ACEI/ARB was not knowing the dose.In aspect of non-drug therapy:240 (62.3％)Gps never heard of cardiac resynchronization therapy (CRT) and 271 (70.4％)Gps never heard of implantable cardioverter defibrillator (ICD).The senior rank GPs grasped the guideline much better than Gps with primary and intermediate professional ranks.Conclusion General practitioners in community health centers should further study the guideline of heart failure,particularly need to strengthen the knowledge and ability of drug therapy.

BACKGROUND:Bone marrow mesenchymal stem cells are rare in vivo. It is important to purify, proliferate and differentiate bone marrow mesenchymal stem cells in vitro for further research. OBJECTIVE:To evaluate the biological characteristics, phenotype and multiple differentiation potential cultivation of bone marrow mesenchymal stem cells that are isolated, cultured and purified using the whole bone marrow adherence method. METHODS:Bone marrow mesenchymal stem cells were isolated, purified and cultured by the whole bone marrow adherence method. Morphological observation and flow cytometry determination of cellsurface markers were performed. Osteogenic and adipogenic differentiation of bone marrow mesenchymal stem cells was induced. RESULTS AND CONCLUSION:We successful y purified and proliferated bone marrow mesenchymal stem cells with high cellviability and differentiation ability. Fibroblast-like cells were harvested, expressing CD29 and CD90, but not CD45. Fol owing osteogenic and adipogenic induction, cells were positive for oil red O staining and alizarin red staining. The whole bone marrow adherence method is easy to operate, has little impact on cellviability, and can be used to harvest high-purification bone marrow mesenchymal stem cells with high cellviability and differentiation ability.

Objective To study features of the MRI and clinic in a family with pure hereditary spastic paraplegia (PHSPG) type 6.Methods Target loci (SPG3, 4, 6, 8 10 and 12) linkage analysis was performed in a SPG pedigree having 6 affected individuals using microsatellite markers and NIPA1 gene was screened for mutation by PCR-amplification and sequencing. MRI of brain and cervical and thoracic spinal cord were examined in these 6 patients and 6 normal controls matched for age and sex by two independent radiologists blinded to the clinical diagnosis. Cross-sectional areas and anteroposterior and transverse diameters of the spinal cord at the levels of C2～3, C7, T1～4, T9 were measured and data was statistically analyzed using the student's t test. Results A missense mutation of 316g→c in NIPA1 was identified in the affected subjects, presumably resulting in substitution of glutamic acid for arginine in residue 106. Evaluation of the brain MRI images revealed non-specific brain abnormalities. All patients presented thinning of cervical and upper thoracic spine with atrophy in both gray and white matter and enlarged subarachnoid cavity. In severe atrophic segments, a distinct boundary between grey and white matter was observed and the lesions in grey matter presented literal high intensity spots or patches with clear boundary on transaxial T2-weighted images (T2WI) and high signal intensity longitudinal strip on the sagittal T2WI. Cross-sectional areas and anteroposterior and transverse diameters of the spinal cord at C2～3, C7, T1～4 were significantly smaller in patients than in controls, while at the T9 level only transverse diameter showed significant difference (7.22±0.08 vs 8.17±0.41, t=2.870, P=0.046). Conclusions These findings indicate that the disease process in patients with SPG6 might be confined to the cervical and thoracic spinal cord, with atrophy in both white and grey matter having a distinct boundary.

BACKGROUND:Bone marrow mesenchymal stem cel s from chickens are important cel models for embryonic developmental biology, immunology and oncology research. However, it is difficult to keep bone marrow mesenchymal stem cel s with good undifferentiated potential in a large-scale expansion system.
OBJECTIVE:To establish a culture system in vitro with laminin coating to expand bone marrow mesenchymal stem cel s from chickens.
METHODS:Isolated bone marrow mesenchymal stem cel s from chickens were seeded in laminin-coated plates and traditional two-dimensional plates, respectively. After expansion in vitro, the morphological characteristics, expression of surface markers, expansion characteristics and adipogenic differentiation of bone marrow mesenchymal stem cel s in both conditions were analyzed and compared.
RESULTS AND CONCLUSION:There were no statistical differences in the morphological characteristics and expression of surface markers of bone marrow mesenchymal stem cel s expanded by laminin-coated plates and traditional two-dimensional plates. But, the expansion characteristics and adipogenic differentiation of bone marrow mesenchymal stem cel s cultured in laminin-coated plates were better than those in traditional two-dimensional plates. Laminin culture system could quickly amplify out of a large number of chicken bone marrow mesenchymal stem cel s with better proliferation ability and undifferentiated performance. Al above results indicated that a more efficient expansion system with laminin coating is established.

OBJECTIVETo delineate the clinical, electrophysiological and genetics features of a family where 4 members were affected with hereditary neuropathy with liability to pressure palsies (HNPP).

METHODSClinical features of the 4 patients were summarized. Electrophysiological examination and genetic analysis were carried out.

RESULTSAll of the patients showed recurrent motor and sensory disturbances after minor traction or constriction. Electrophysiology study revealed that the prolonged latency and reduced conduction velocity of peripheral nerve were general and with multiple sites of affection. The nerve locations liable to entrapment showed conduction block. A deletion mutation of peripheral myelin protein 22 (PMP22) gene was identified by genetic analysis.

CONCLUSIONHNPP usually affects areas where nerves are liable to entrapment, and presents with motor and sensory disturbances of the innervated areas. Electrophysiological study reveals general nervous demyelination. Genetic analysis can clarify the diagnosis of HNPP.

Adult ; Arthrogryposis ; genetics ; physiopathology ; Hereditary Sensory and Motor Neuropathy ; genetics ; physiopathology ; Humans ; Male ; Myelin Proteins ; genetics ; Neural Conduction

Objective:To investigate the effect of human Cu/Zn superoxide dismutase (hSOD1) gene with G93A mutation on Nrf2/ARE signaling pathway in NSC‐34 cell ,the transgenic cell model of amyotrophic lateral sclerosis (ALS) .Methods :The established plasmids ,hSOD1‐pcDNA3 .1(‐) ,hSOD1‐G93A‐pcDNA3 .1(‐) ,and pcDNA3 .1(‐) were transfected into NSC‐34 cells ,the transgenic cell model of amyotrophic lateral sclerosis .The models were divided into four groups according to different transfected plasmids .They were normal group ,empty group ,wild group and mutation group .The oxidative‐stress injury was evaluated by detecting the content of intracellular malondialdehyde (MDA) ,a lipid peroxidation product .The permeability of mitochondrial membrane was detected .Western blotting was used to determine the intracellular protein expression level of Nrf 2 and antioxidase ,so as to reveal the activation level of the Nrf2/‐ARE signaling pathway in each group .Results:The level of oxidative stress and the mitochondrial permeability increased in the NSC‐34 cells transfected with human hSOD1‐G93A‐pcDNA3 .1(‐) gene(mutation group ,P<0 .05) ,which implied impairment of mitochondrias .The protein expression level of Nrf2 ,significantly decreased in NSC‐34 cells transfected with hSOD1‐G93A gene(P< 0 .05) .So were heme oxygenase‐1 (HO‐1) and NAD(P)H :quinone oxidoreductase 1 (NQO1) ,downstream effector molecules of Nrf2‐ARE signaling pathway . The expression of Nrf 2 in cytoplasm significantly decreased in mutation group , while Nrf2 expression in cell nucleus significantly increased (P<0 .05) in mutation group and wild group ,especially in mutation group (P<0 .05) .Conclusions :The G93A mutation of hSOD1 gene impairs Nrf2/ARE signaling pathway in ALS cell models ,reduces the antioxidant ability of cells ,and increase the impairment of mitochondrias .

In recent years, the incidence of thyroid diseases has increased significantly and ultrasound examination is the first choice for the diagnosis of thyroid diseases. At the same time, the level of medical image analysis based on deep learning has been rapidly improved. Ultrasonic image analysis has made a series of milestone breakthroughs, and deep learning algorithms have shown strong performance in the field of medical image segmentation and classification. This article first elaborates on the application of deep learning algorithms in thyroid ultrasound image segmentation, feature extraction, and classification differentiation. Secondly, it summarizes the algorithms for deep learning processing multimodal ultrasound images. Finally, it points out the problems in thyroid ultrasound image diagnosis at the current stage and looks forward to future development directions. This study can promote the application of deep learning in clinical ultrasound image diagnosis of thyroid, and provide reference for doctors to diagnose thyroid disease.
Humans ; Algorithms ; Deep Learning ; Image Processing, Computer-Assisted/methods* ; Thyroid Diseases/diagnostic imaging* ; Ultrasonography