Objective To analyze the clinical manifestations and gene mutations of rare causes of primary adrenal insufficiency (PAI) in childhood.Methods The clinical features,laboratory tests and gene mutation of 13 patients with PAI in our hospital from September 2010 to August 2017 were analyzed retrospectively.Patients with congenital adrenal hyperplasia,X-linked adrenoleukodystrophy with neurological onset or a clear family history,and autoimmune adrenal insufficiency were excluded.Results The median age of 13 cases (12 males,1 female) was 3 years and 10 months.Medical history or clinical manifestations on the first visit included hyperpigmentation,electrolyte imbalance/salt-wasting crisis,gastrointestinal symptoms,and fatigue,etc.All developments of external genitalia were normal.All cases presented with decreased serum cortisol and increased ACTH levels.Some of the cases showed decreased aldosterone level and plasma renin activity,while 17α-hydroxyprogesterone,testosterone,and androstenedione were in the normal range.Part of cases revealed delayed bone age and adrenal atrophy.Three gene mutations were detected in 13 patients,including NR0B 1 gene (9/13),ABCD 1 gene (3/13),and CYP 11A 1 gene (1/13).NR0B1,and ABCD1 gene mutations were pathogenic mutations,consistent with clinical characteristics.CYP11A1 gene mutation was heterozygote,which cannot fully explain the clinical features.Conclusion PAI in childhood presents common clinical manifestations of adrenal insufficiency,e.g.hyperpigmentation and electrolyte imbalance/sah-wasting crisis,but without specificity.Gene mutational analysis is necessary for precise diagnosis and prognosis estimation.NR0B1 and ABCD1 gene mutations were common in childhood with rare causes of PAI.

Objective To analyze the effect of ultrasound-guided glucocorticoid injection on different pathologies of the shoulder retrospectively.Methods Clinical data were collected describing 75 patients with shoulder pain who received ultrasound-guided glucocorticoid injection and finished 3 month follow-ups in the rehabilitation clinic of the Third Affiliated Hospital of Sun Yat-sen University between April and September of 2017.The patients were divided into three groups based on their different injection sites:group 1 was injected at the subacromial bursa alone,group 2 was injected at both the subacromial bursa and the coracoid bursa,while group 3 was injected at the subacromial bursa and the long head of the tendon sheath of the biceps brachii.A shoulder pain and disability index (SPADI) was used to quantify the pain and disability of each patient before and after the injection.Results Significant improvement was observed in the average pain and disability scores of all groups at 1 week,1 month and 3 months after the injection.Moreover,significant and continuous improvement was observed in the average pain and disability scores of groups 1 and 3,as well as the average disability score of group 2 from right after the injection until the last follow-up.However,no significant differences were found in the average pain score between one and three months after the injection.There was no significant difference among the 3 groups in the average pain and disability scores before and immediately after the injection.Conclusion Ultrasound-guided glucocorticoid injection is effective and persistent for treating shoulder pain with different pathologies.

Objective To evaluate the characteristics of dysphagia after brain stem infarction,and to determine the mechanism of aspiration.Methods The fluoroscopic videos of 12 dysphagia patients who had suffered brain stem infarction and 10 healthy counterparts were analyzed quantitatively using a digital analysis system.Each participant was requested to twice swallow 5ml of thick liquid.The observations included the oral transit time (OTT),the swallow response time (SRT),the hyoid movement time (HMT),the upper esophageal sphincter opening time (UOT) and the laryngeal closure time (LCT).An 8-point penetration-aspiration scale (PAS) was used to evaluate the severity of aspiration,and the results were correlated with the other 5 quantitative observations.Results The average OTT [(3.091±1.803)s],HMT [(1.498±0.550)s] and LCT [(0.651±0.186)s] of the brain stem infarction patients were all significantly longer than those of the healthy controls.However,no significant differences were found between the patients and the healthy volunteers in terms of SRT or UOT.Aspiration severity was significantly correlated with SRT but not with LCT.Conclusion Dysphagia after brain stem infarction involves both the oral and pharyngeal phases.OTT,HMT and LCT can be used to quantify dysphagia after brain stem infarction,while SRT is a predictor of aspiration.

Objective To investigate the changes of thyroid autoantibody(TAA)in children with Turner syndrome(TS),and its association between TAA and thyroid dysfunction,age,karyotype and dyslipidaemia.Methods Thirty-two patients with TS diagnosed by chromosome analysis hospitalized at Sun Yat-Sen Memorial Hospital,Sun Yat-Sen University from July 2007 to July 2015 were divided into 2 groups based on TAA-positive or TAA-negative,then the thyroid dysfunction,the age,the karyotype and the lipid metabolism were compared between 2 groups.Results Of the 23 cases of TAA-positive girls(23/32 cases,71.88％),9 girls(39.13％)suffered from thyroid dysfunction;of the 9 cases of TAA-negative girls(9/32 cases,28.12％),3 girls(33.33％)had thyroid dysfunction.As compared with the girls in TAA-negative group,the age in TAA-positive group was significantly higher[(12.08±2.90)years old vs.(8.89±4.17)years old],and the difference was significant(t=101.500,P=0.047).The patients were divided into 4 age groups:0-5 years old,>5-10 years old,>10-15 years old and >15 years old;the rates with TAA-positive were 25.00％(1/4 cases),75.00％(6/8 cases),82.35％(14/17 cases)and 66.67％(2/3 cases)respectively.Twenty patients received the lipid metabolism test,and 11 cases(11/20 cases,55.00％)of them suffered from dyslipidaemia,9 cases of them were TAA-positive(9/11 cases,81.82％),and 2 cases were TAA-negative(2/11 cases,18.18％).The differences in the prevalence of dyslipidaemia between the 2 groups were significant(x2=4.848,P=0.028).There was no significant difference in the numbers of TAA-positive cases among different karyotypes(x2 =4.246,P=0.120).Conclusions Patients with TS are prone to suffer from thyroid dysfunction and dyslipidaemia.Timely detection of TAA and thyroid function is recommended,as well as the lipid metabolism if necessary.

Objective To explore the effect of theta-burst stimulation (TBS) of the motor cortex on the suprahyoid muscles and the mechanism through which the bilateral motor cortex regulates the suprahyoid muscles.Methods Continuous TBS (cTBS) was applied to the left motor cortex followed by intermittent TBS (iTBS) applied to the right motor cortex of 24 healthy subjects.The motor-evoked potentials (MEPs) of the suprahyoid muscles on both sides were recorded before the stimulation and after 15 and 30 minutes.The MEP amplitudes of the left and right suprahyoid muscles were analyzed using repeated measures analysis of variance.Results Before stimulation, the average MEP amplitudes of the left and right suprahyoid muscles were (375.29 ± 176.09) μV and (368.17 ± 149.02) μV respectively, significantly lower than the values after the stimulation.Conclusion iTBS can distinctly enhance the excitability of the right motor cortex controlling the suprahyoid muscles and reverse the inhibition caused by cTBS applied to the left motor cortex.Clarifying the effect of TBS on the excitability of the bilateral motor cortex is important for the rehabilitation of dysphagic stroke survivors.

Objective To evaluate the effect of the modified balloon dilatation intervention on the pharyngeal constriction function of the brainstem stroke survivors with dysphagia using videofluoroscopy-based digital analysis.Methods Thirty brainstem stroke survivors with pharyngeal dysphagia were recruited and randomly divided into a treatment group and a control group,with 15 in each.The treatment group was treated with the modified balloon dilatation in addition to the routine treatment of 30min,respectively,once a daily,3 days a week,whiled a control group was treated with routine treatment of 30min twice a day,3 days a week.Before and after the treatment,the rate and duration of pharyngeal constriction were measured in both groups.Results After the treatment,the rate of pharyngeal constriction in the treatment group was (0.20 ± 0.030),(0.14 ± 0.05) and (0.15 ± 0.04) when swallowing thin liquid,thick liquid and pasty food,significantly better than before the treatment.The duration of the pharyngeal constriction was (990.34 ±96.14),(1010.47 ± 133.64) and (1180.10 ± 121.27) ms,respectively,also significantly better than before the treatment.In the control group,significant differences were also observed in the rate and duration of pharyngeal constriction before and after the treatment.Conclusions Digital analysis based on videofluoroscopy can be used to quantify swallowing function effectively,and the rate and duration of pharyngeal constriction can be used to evaluate the pharyngeal function before and after treatment.

Background Researches showed that platelet-derived growth factor (PDGF) modulate the expression of matrix metalloproteinase/tissue inhibitor of metalloproteinase (MMP/TIMP) in cells,but the association of expression of MMP/TIMP in retinal pigment epithelial (RPE) cells and the dose and active time of PDGF is unclear.Objective This study was to observe the effects of PDGF on the expressions of MMP-2,MMP-9 and TIMP-1 in cultured RPE cells in vitro.Methods RPE cell line,ARPE-19,was calculated in vitro,and the cells were divided into 5 groups when they reached 70％-80％ confluence.Different concentrations (0,0.1,1,10,50 mg/L) of PDGF was added into the medium respectively for 36 hours,and the expressing levels of mRNA and protein of MMP-2,MMP-9 and TIMP-1 were detected by reverse transcription PCR (RT-PCR) and Western blot assay.In addition,RPE cells in PDGF group were treated with 10 mg/L PDGF for 24,36,48 hours respectively to detect the expressions of mRNA and protein of MMP-2,MMP-9 and TIMP-1 in the cells and to compare with the control group without PDGF.Results PDGF stimulated proliferation of RPE cells in a dose-and time-dependent manner.As the increase of the PDGF concentrations,the expression values of MMP-2 mRNA and MMP-9 mRNA in RPE cells were gradually elevated,with a statistically significant difference among various groups (MMP-2 mRNA:F=79.304,P=0.000;MMP-9 mRNA:F =8.465,P=0.003),and the expressions of MMP-2 mRNA and MMP-9 mRNA were significantly higher in the 1,10,50 mg/L PDGF groups compared with 0 mg/L PDGF normal control group (all at P＜0.05).Also,the expression values of MMP-2 and MMP-9 proteins in RPE cells were gradually elevated with the increase of PDGF concentrations,showing statistically differences among the groups (MMP-2:F=26.550,P=0.000;MMP-9:F=80.993,P=0.000).Compared with the 0 mg/L PDGF group,MMP-2 and MMP-9 expression levels in the 1,10,50 mg/L PDGF groups were significantly up-regulated (all at P＜ 0.05).However,the expression levels of TIMP-1 mRNA and protein group in the cells were not significantly different among various groups (mRNA:F =0.143,P =0.962 ; protein:F =1.955,P =0.178).The expression levels of M MP-2 mRNA,M MP-9 mRNA in the cells were increased in the PDGF group compared with the control group at different time points (MMP-2 mRNA:Ftime =83.250,P=0.002 ; MMP-9 mRNA:Ftime =6.785,P =0.019).Also,the expression values of MMP-2 and MMP-9proteins in RPE cells were increased in the PDGF group compared with the control group at different time points (MMP-2:Ftime =1 l.185,P =0.041 ; MMP-9:Ftime =968.413,P =0.000).The expression levels of MMP-2 and MMP-9 mRNAs and proteins were significant between the two groups at different time points (all at Pgroup =0.000;all at Ptime＜0.05).While the expression changes of TIMP-1 werc not significant between the two groups and among various time points (all at P＞0.05) Conclusions PDGF up-regulates MMP-2 and MMP-9 expressions in RPE cells in a dose-and time-dependent manner.But,PDGF dose not alter the expression of TIMP-1.These results indicate that PDGF disrupt the balance of MMP/TIMP,which may damage the extracellular matrix and therefore facilitate the migration of RPE cells in the pathogenesis of proliferative vitreoretinopathy.

Objective To assess the effects of rehabilitation training on lower extremity muscle function in stroke patients using velocity-encoded phase-contrast MRI ( VE-PC MRI). Methods Twenty-nine stroke patients at the convalescence stage were divided into a treatment group (14 cases) and a control group (13 cases).The subjects performed calf muscles stretches supine in a scanner bed with voluntary ankle flexion-extension movements.Imaging data were collected from the tibialis anterior muscle (TA),the medial head of the gastrocnemius (MG) and the soleus muscle (SOL) of the affected side.The treatment group also underwent rehabilitation including treadmill training,while the control group received only walking training without the treadmill.Barthel index (BI) and Berg balance scale (BBS) scores were measured after rehabilitation. Results Compared with baseline,the contraction velocity of the TA (phases 2 to 7),the MG (phases 12 to 18 ) and the SOL (phases 13 to 16) on the affected side increased significantly in the treatment group.In the control group,the contraction velocity of the calf muscles on the affected side improved,but fewer phases were significant-for the TA phase 4,for the MG phases 13 to 15 and for the SOL phase 15.In both groups,BBS and BI scores improved significantly compared with baseline.The average improvement in the treatment group was significantly greater than that in the control group. Conclusions Rehabilitation including treadmill training can improve calf muscle contraction function on stroke patients' affected side,and also their ADL performance and balance.VE-PC MR1 can provide quantitative in vivo measurements of the contraction function of stroke patients' calf muscles.

Objective To screen and identify International Classification of Functioning,Disability and Health (ICF) core sets for spasticity and make a dedicated and comprehensive assessment tool for spasticity after stroke.MethodsFifty patients with spasticity after stroke were involved in this study.Information about them was collected by clinical investigation and self-completed questionnaires.The ICF scale was used to assess the severity of each item.Each item's frequency was calculated and those items with frequencies ≥ 30％ were selected as the first ICF core set for spasticity.The ICF check list was designed as a questionnaire and 8 doctors and 5 therapists were consulted.Items with frequency ≥50％ were chosen as the second level ICF core set for spasticity.The two results (termed ICF core sets Ⅰ and Ⅱ) were integrated with the initial ICF core sets for spasticity and sent to 42 experts in the area of neurological rehabilitation.Items with a frequency ≥80％ were chosen as the final ICF core set for spasticity.ResultsA total of 32 ICF items were included in the ICF core set for spasticity after stroke.There were 10body function items,4 body structure items,13 activity and participation items and 5 environmental items involved.ConclusionThe ICF core set for spasticity was identified in this study.The selected items covered content broader than other common spasm assessment scales.The result is a comprehensive description of spasticity.

Objective To explore the characteristics of calf muscle movement of the normal volunteer in vivo by velocity encoded phase contrast MRI (VE-PC MRI ).MethodsTwenty four healthy subjects were divided into the young group (30-40 years) and the elderly group (60—78 years).All subjects were positioned on the scanner table and did ankles flexion-extension voluntary movement,the moving images of tibialis anterior muscles (TA),medial gastrocnemius (MG) and soleus muscle (SOL)on the left were scanned with VE-PC MRI.The calf muscles contraction velocity were analyzed by software.The Mann-Whitney U test was used for comparison of calf muscles contraction velocity in vivo between the young group and the elderly group. Results During cyclic ankle flexion-extension,dorsiflexion phase (1—10 phases)in the two groups,TA showed concentric contraction,plantar flexion phase (11—20 phases),MG and SOL did concentric contraction. At 3-6 phases during dorsiflexion,velocity of TA (M value:-37.66,-53.00, -60.66, -56.00 mm/s) in the young group is higher than in the elderly group (M-value:- 30.33, - 42.49, - 53.00, - 48.67 mm/s),at 13—15 phases during plantar flexion,velocity of MG (M-value:- 47.66, - 60.00, - 66.33 mm/s) in the young group showed higher velocity than in the elderly group (M-value:-25.17,-37.99,-50.98 mm/s),at 12—14 phases during plantarflexion,SOL showed higher velocity in the young group (M-value:-27.21, -40.10, -49.13 mm/s) than in the elderly group (M-value:- 20.66,- 29.61,- 37.16 mm/s) ( all P ＜ 0.05).Conclusions During active ankle cyclic flexion-extension movement,velocity of TA,MG and SOL in the elderly group are decreased as compared to the young group. VE-PC MRI can reflect biomechanical characteristics of calf muscle in vivo,and provide a new kind of measurement for lower extremities.