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1.
Chinese Journal of Contemporary Pediatrics ; (12): 699-704, 2022.
Article in Chinese | WPRIM | ID: wpr-939650

ABSTRACT

A boy, aged 5 years, attended the hospital due to progressive psychomotor regression for 2.5 years. Motor function regression was the main manifestation in the early stage, and brain MRI and whole-exome sequencing (WES) of the family showed no abnormalities. After the age of 4 years and 9 months, the boy developed cognitive function regression, and brain MRI showed cerebellar atrophy. The reanalysis of WES results revealed a compound heterozygous mutation, [NM_000520, c.784C>T(p.His262Tyr]), c.1412C>T(p.Pro471Leu)], in the HEXA gene. The enzyme activity detection showed a significant reduction in the level of β-hexosaminidase encoded by this gene. The boy was diagnosed with juvenile Tay-Sachs disease (TSD). TSD has strong clinical heterogeneity, and cerebellar atrophy may be an important clue for the diagnosis of juvenile TSD. The reanalysis of genetic data when appropriate based on disease evolution may improve the positive rate of WES.


Subject(s)
Humans , Male , Atrophy , Magnetic Resonance Imaging , Mutation , Tay-Sachs Disease/genetics
2.
Chinese Journal of Surgery ; (12): 57-62, 2022.
Article in Chinese | WPRIM | ID: wpr-935580

ABSTRACT

Objective: To examine the effective and safe outcomes of drug-coated balloon (DCB) angioplasty for the treatment of femoropopliteal long lesions in mid-term and long-term follow-up. Methods: The clinical data of 114 patients with symptomatic (Rutherford 2 to 6) femoropopliteal long lesions who underwent angioplasty with DCB between June 2016 and May 2021 at Department of Vascular Surgery,Beijing Tsinghua Changgung Hospital were retrospectively analyzed. A total of 75 males and 39 females were enrolled, aged (71.9±8.4)years (range: 49 to 89 years). Among 138 lesions in 114 patients, there were 111 de nove lesions (80.4%, 111/138). Total occlusions were recanalized in 116 limbs (84.1%, 116/138). The lesion length was (280.9±78.7)mm (range: 150 to 520 mm). DCB angioplasty combined with debulking devices was used in 59 lesions (42.8%, 59/138).The bail-out stent implantation was performed in 27 limbs (19.6%, 27/138). The Kaplan-Meier method was used to evaluate cumulative primary patency rate, freedom from the clinically driven target lesion revascularization (CD-TLR) rate and accumulate survival rate. Univariate and multivariate analyses with Cox proportional hazards models were performed to determine the significant prognostic factors for primary patency. Results: DCB angioplasty was completed in 114 patients. The technical success rate was 98.2%(112/114). The mean follow-up time was 18 months (range: 3 to 54 months).The results showed that primary patency rates at 12, 24 and 36 months postoperatively were 87.5%, 75.2% and 55.1%, respectively. Freedom from CD-TLR rate at 12, 24 and 36 months postoperatively were 92.4%, 81.8% and 68.7%, respectively. Accumulate survival rate at 12, 24 and 36 months postoperatively were 96.2%, 94.0% and 80.2%. Multivariate Cox's regression analyses showed that chronic limb-threatening ischemia(CLTI) (HR=2.629, 95%CI:1.519 to 4.547, P<0.01) and hyperlipidemia (HR=2.228, 95%CI: 1.004 to 4.948, P=0.026) were independent prognosis factors for primary patency in DCB treatment of femoropopliteal long lesions. Conclusions: DCB provided favorable outcomes for the treatment of femoropopliteal long lesions. CLTI and hyperlipidemia are independent prognosis factors for restenosis after DCB angioplasty.


Subject(s)
Aged , Female , Humans , Male , Angioplasty, Balloon , Coated Materials, Biocompatible , Femoral Artery , Peripheral Arterial Disease , Pharmaceutical Preparations , Popliteal Artery , Prognosis , Retrospective Studies , Risk Factors , Time Factors , Treatment Outcome , Vascular Patency
3.
Chinese Acupuncture & Moxibustion ; (12): 279-282, 2021.
Article in Chinese | WPRIM | ID: wpr-877605

ABSTRACT

OBJECTIVE@#To observe the influence of regulating menstruation and promoting pregnancy acupuncture therapy on negative emotions in patients with premature ovarian insufficiency (POI).@*METHODS@#A total of 60 patients with POI were randomly divided into an acupuncture group and a western medication group, 30 cases in each group. The acupuncture group was treated with regulating menstruation and promoting pregnancy acupuncture therapy at Baihui (GV 20), Shenting (GV 24), Guanyuan (CV 4), Sanyinjiao (SP 6), Shenshu (BL 23), Ciliao (BL 32), etc. once a day, 5 times a week for 3 months. The western medication group was treated by oral administration of climen. The drug was given 1 tablet a day for 21 days and was stopped for 1 week as a course. The treatment was required 3 consecutive courses. The self-rating anxiety scale (SAS) score, modified Kupperman index (KI) score, agitated and depressive symptom scores in KI and serum level of follicle stimulating hormone (FSH) before and after treatment were compared between the two groups.@*RESULTS@#After treatment, the SAS scores, KI scores and serum levels of FSH in the two groups and the scores of agitated and depressive symptom in the acupuncture group were lower than those before treatment (@*CONCLUSION@#Regulating menstruation and promoting pregnancy acupuncture therapy can effectively improve the negative emotions of patients with POI and reduce serum level of FSH .


Subject(s)
Female , Humans , Pregnancy , Acupuncture Points , Acupuncture Therapy , Follicle Stimulating Hormone , Menstruation , Primary Ovarian Insufficiency/therapy
4.
National Journal of Andrology ; (12): 129-132, 2014.
Article in Chinese | WPRIM | ID: wpr-267965

ABSTRACT

<p><b>OBJECTIVE</b>To investigate the incidence of erectile dysfunction (ED) in men with lower urinary tract symptoms (LUTS) and the correlation between LUTS and ED.</p><p><b>METHODS</b>We enrolled 1 000 men aged 40 - 80 years with regular sex partners, evaluated their erectile function using IIEF-5, and investigated LUTS among them by International Prostate Symptom Score (IPSS). We studied the relationship between ED and LUTS by univariate conditional Logistic regression analysis.</p><p><b>RESULTS</b>LUTS were found in 42.81% of the men investigated (426/995), and ED in 76.18% of the subjects (758/995) and 82.16% of those with LUTS (350/426). Logistic regression analysis revealed a significant relation of ED with aging and LUTS (P < 0.01).</p><p><b>CONCLUSION</b>The The incidence of ED is high in men with LUTS and increases with aging and the severity of LUTS.</p>


Subject(s)
Adult , Aged , Aged, 80 and over , Humans , Male , Middle Aged , Erectile Dysfunction , Epidemiology , Lower Urinary Tract Symptoms , Epidemiology , Penile Erection , Prevalence , Risk Factors
5.
Chinese Acupuncture & Moxibustion ; (12): 1037-1039, 2014.
Article in Chinese | WPRIM | ID: wpr-307754

ABSTRACT

<p><b>OBJECTIVE</b>To explore the correlation between hand and face-mouth, so as to provide nerve reflex basis for the theory "Hegu (LI 4) regulates face and mouth".</p><p><b>METHODS</b>Seven hundred and sixty-three participants who met the inclusive criteria were divided into different age groups. The skin around participants' thenar eminence was gently scraped to be observed whether there was an involuntary movement around the face or mouth, which was palmomental reflex. The results of palmomental reflex were recorded.</p><p><b>RESULTS</b>The total occurrence rate of palmomental reflex was 46.26%. For those who were 0 to 1 years old, the palmomental reflex was all positive; for those who were 21 to 36 years old, the positive rate was 20.45%, which was the lowest; for those who were 65 to 85 years old, more than half of them were positive. The majority of those who were 0 to 2 years old were bilateral positive palmomental reflex, while the majority of those who were 65 to 85 years old were unilateral positive palmomental reflex.</p><p><b>CONCLUSION</b>There is a certain connection between hand and face-mouth. The occurrence rate of palmomental reflex changes from high to low over age increasing, and then changes from low to high with the aging, presenting a "high-low-high" U-shaped curve, which is possible related to the growth and recession of nervous system.</p>


Subject(s)
Adolescent , Adult , Aged , Aged, 80 and over , Child , Child, Preschool , Female , Humans , Infant , Male , Middle Aged , Young Adult , Acupuncture Points , Acupuncture Therapy , Face , Hand , Mouth , Reflex
6.
National Journal of Andrology ; (12): 522-526, 2013.
Article in Chinese | WPRIM | ID: wpr-350868

ABSTRACT

<p><b>OBJECTIVE</b>To investigate the epidemiology of late-onset hypogonadism (LOH) in old and middle-aged males in the rural area of Southern China.</p><p><b>METHODS</b>Using the age-stratified sampling method, we conducted a questionnaire investigation on androgen deficiency in aging males (ADAM), aging male symptoms (AMS) and IIEF-5 among 996 males aged 40 -80 years in a rural community of Jiashan county, Zhejiang Province from April to October 2012. We also determined the concentrations of serum total testosterone (TT), serum sex hormone binding globulin (SHBG) and serum albumin (ALB), detected the levels of free testosterone (cFT) and bio-available testosterone (Bio-T) by Vermeulen formula, and measured the volumes of the prostate and testis by ultrasonography.</p><p><b>RESULTS</b>The mean age of the males was 56.22 +/- 8.82 years. The positive rates of LOH were 62.86% and 23.05% based on ADAM and AMS, respectively, and the incidence of erectile dysfunction (ED) was 68.83%. There were significant differences among different age groups in the levels of luteinizing hormone (LH), SHBG, cFT and Bio-T, but not in TT concentration.</p><p><b>CONCLUSION</b>Ours was the first survey on the epidemiology of LOH among old and middle-aged males in the rural area of China. The incidence of LOH in the rural community of Zhejiang Province was lower than that in the urban areas reported in other studies, but the positive rate of ED showed no significant difference.</p>


Subject(s)
Adult , Aged , Aged, 80 and over , Humans , Male , Middle Aged , Age of Onset , China , Epidemiology , Erectile Dysfunction , Epidemiology , Hypogonadism , Epidemiology , Incidence , Luteinizing Hormone , Blood , Rural Population , Surveys and Questionnaires , Testosterone , Blood
7.
Chinese Journal of Endemiology ; (6): 405-408, 2012.
Article in Chinese | WPRIM | ID: wpr-643159

ABSTRACT

ObjectiveTo analyze the surveillance results at the national surveillance spots of brucellosis from 2006 to 2010,to know the epidemic status of national brucellosis,and to provide scientific evidences for evaluating of surveillance quality and formulating of surveillance strategies and measures.Methods The brucellosis surveillance data collected from the Surveillance Reports of Major Infectious Diseases and Vector-Biological Monitoring Report in China from 2006 to 2010,and the National Diseases Surveillance Information Management System were classified and analyzed using two stage clustering statistical analysis.Results According to national routine surveillance,the incidence of brucellosis increased from 1.55 per 100 000 in 2006 to 2.62 per 100 000 in 2010.Reported brucellosis cases were mainly in Inner Mongolia,Shanxi,Heilongjiang and other regions,and reported time was from March to August,which accounting for 79.87%(114 265/143 064).The brucellosis cases were mainly youth,male,farmers and herdsman.In the national surveillance spots of the brucellosis,217 648 cases received epidemic survey,of which 61 905 cases received serological test,the positive rate was 19.66%(12 169/61 905),and 10 318 new cases were found; the highest positive rate of serological test was 41.19%(2757/6694) which was found in Zhalantun of Inner Mongolia; the detection rate of pathogen culture was 2.49%(29/1165); the positive rates of serological test in cattle and sheep were 1.07%(2355/219 352) and 0.93% (2766/296 176),respectively.The surveillance spots were classified into four grades according to cluster analysis.Conclusions The epidemic continues to rise in human surveillance spots of brucellosis.Although national surveillance spots play an important role in the surveillance of brucellosis,the quality and quantity of surveillance work of national brucellosis surveillance spots should be improved,different management measures should be taken in different surveillance spots according to classified results of the cluster analysis.This study provides some basis to improve the utilization of health resources and the level of Brucella disease prevention and control work.

8.
Chinese Medical Journal ; (24): 50-55, 2012.
Article in English | WPRIM | ID: wpr-333542

ABSTRACT

<p><b>BACKGROUND</b>Macrophage migration inhibitory factor (MIF) is an upstream regulator in immune and inflammatory responses. However, its role in viral myocarditis remains unknown. In this study, we investigated the role of the MIF in coxsackievirus B3 (CVB3)-induced myocarditis.</p><p><b>METHODS</b>Mice were randomized into two groups receiving either Eagle's minimal essential medium (EMEM, control group) or virus solution (infected group). Subsets of mice in the infected group were sacrificed on days 3, 7, 14 and 28 after inoculation. Expression of MIF was detected using an enzyme-linked immunosorbent assay (ELISA), reverse transcription polymerase chain reaction and immunohistochemistry. A neutralizing antibody (Ab) to MIF was injected intraperitoneally from day 0 to 7 after inoculation. Disease severity was estimated by histopathology of the heart and by the heart weight to body weight ratio, and the interleukin-1β (IL-1β) and tumor necrosis factor α (TNF-α) in the myocardium were measured by ELISA on day 14.</p><p><b>RESULTS</b>The serum MIF concentration and expression levels of myocardial MIF mRNA and protein were significantly elevated in mice on days 7 and 14 post-infection. The survival rate was markedly higher and disease severity was obviously less in mice treated with anti-MIF Ab. Furthermore, MIF blockade significantly decreased the IL-1β and TNF-α in the myocarditic heart.</p><p><b>CONCLUSION</b>These results demonstrate that MIF is an important naturally occurring inflammatory cytokine in CVB3-induced myocarditis, and anti-MIF Ab may lessen the inflammatory response.</p>


Subject(s)
Animals , Male , Mice , Coxsackievirus Infections , Metabolism , Pathology , Virology , Enterovirus B, Human , Enzyme-Linked Immunosorbent Assay , Immunohistochemistry , Interleukin-1beta , Metabolism , Macrophage Migration-Inhibitory Factors , Metabolism , Mice, Inbred BALB C , Myocarditis , Metabolism , Pathology , Virology , Myocardium , Metabolism , Reverse Transcriptase Polymerase Chain Reaction , Tumor Necrosis Factor-alpha , Metabolism
9.
China Journal of Orthopaedics and Traumatology ; (12): 980-983, 2012.
Article in Chinese | WPRIM | ID: wpr-344809

ABSTRACT

<p><b>OBJECTIVE</b>To investigate clinical effects and advantages of Wiltse paraspinal approach to thoracolumbar burst fractures.</p><p><b>METHODS</b>From June 2008 to June 2010, the data of 53 patients with thoracolumbar burst fractures with no obviously nerve injury were retrospectively analyzed, including 43 males and 10 females with an average age of 41 years ( ranged, 19 to 62 years). For segmental distribution, 6 cases were T11, 11 cases were T12, 22 cases were L1 and 14 cases were L2. Among them, 28 cases were treated with Wiltse paraspinal approach, and 25 cases with postmiddle approach. The operation time, blood loss, postoperative drainage,VAS score of back, Cobb angle of injured cord, changes of collapse of vertebral and median sagittal diameter of injured vertebral were observed.</p><p><b>RESULTS</b>Compared with two methods, there were advantages in improving operation time, blood loss, postoperative drainage and VAS score of back, but there were no significant differences in improving Cobb angle of injuried cord, changes of collapse of vertebral and median sagittal diameter of injuried vertebral.</p><p><b>CONCLUSION</b>Wiltse paraspinal approach to thoracolumbar burst fractures can achieve the same reduction with postmiddle approach,and has advantages of minimally invasive, less blood, simple operation and rapid recovery, and worth popularizing.</p>


Subject(s)
Adult , Female , Humans , Male , Middle Aged , Young Adult , Follow-Up Studies , Lumbar Vertebrae , Diagnostic Imaging , Wounds and Injuries , General Surgery , Spinal Fractures , Diagnostic Imaging , General Surgery , Thoracic Vertebrae , Diagnostic Imaging , Wounds and Injuries , General Surgery , Tomography, X-Ray Computed , Treatment Outcome
10.
Journal of Applied Clinical Pediatrics ; (24)2006.
Article in Chinese | WPRIM | ID: wpr-640016

ABSTRACT

Objective To investigate influence of nano-?-linolenic acid on expression of macrophage migration inhibitory factor (MIF) in murine model with viral myocarditis (VM).Methods Eighty male Balb/c mice were randomly divided into 4 groups equally:control group,model group,low and high dose intervention group.Mice in control group were inoculated introperitoneally with Eagle's solution.Every mouse in other groups was treated with 0.1 mL Coxsackie B3 virus(CVB3) intraperitoneally.Then,mice in low and high dose intervention group were treated with 60 and 180 mg/kg nano-?-linolenic acid solution for 1 week,respectively.Mice in control group and model group were treated with 9 g/L saline for 1 week.All mice were killed on day 15.The expression levels of myocardial MIF mRNA and protein were detected by reverse transcriptase polymerase chain reaction(RT-PCR) and immunohistochemistry.Serum MIF concentration were exa-mined by enzymelinked immunosorbent assay(ELISA).Myocardial histopathology was determined with hematoxylin and eosin stain.Results The mortality rate was 0,45%,30% and 20% in control group,model group,low and high dose intervention group,respectively.The mortality rate was significantly lower in high dose intervention group compared with model group (P

11.
Journal of Applied Clinical Pediatrics ; (24)1993.
Article in Chinese | WPRIM | ID: wpr-639079

ABSTRACT

0.05),but that MFI and/or PPC of CAR in the 2 types cells markedly increased compared with lymphocytes in the same group(Pa

12.
Journal of Applied Clinical Pediatrics ; (24)1986.
Article in Chinese | WPRIM | ID: wpr-639663

ABSTRACT

0.05).Conclusions It suggests that immune dysfunction exists in child patients with VM,MIF,TNF-? and IL-1? may play a role in the VM pathogenesis,and they can be a new indicator for VM.

13.
Journal of Applied Clinical Pediatrics ; (24)1986.
Article in Chinese | WPRIM | ID: wpr-638647

ABSTRACT

Objective To investigate the effect of astragaloside,one of the active components of astragalus membranaceus,on myocardial nerve growth factor(NGF)expression in murine myocarditis model with coxsackievirus B(CVB_3).Methods One hundred Balb/c mice were randomly divided into 6 groups.Group A [n=10,treated with carboxymethylcellulose(CMC) 0.1 mL,ig,for 1 week] were served as normal controls group and group B(n=10,treated with 9% astragaloside 0.1 mL,ig,for 1 week)as high-dose control.Eighty infected mice treated with CMC and 1%,3%,9% astragaloside 0.1 mL,ig,for 1 week (n=20 in each group)were served as group C(myocarditic control group),D(low-dose intervention group),E(middle-dose intervention group),F(high-dose intervention group),respectively.The mice were killed and their hearts were removed after 14 days.The expression levels of NGF mRNA and protein in the myocardium were examined by RT-PCR and immunohistochemistry,respectively.Results The mortality was significantly reduced in 9% astragaloside treated infected mice that was 10%(2/20)vs 45%(9/20)in group C(P

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