Objective To study the hypothalamic-pituitary-ovary axis function in female patients with hepatolenticular degeneration (HLD). Method By RIA test the levels of serum pituitary and sex hormones were observed. Results The level of fallicle-stimulating hormone (FSH) was significantly lower than that in control group ( P

ObjectiveTo study the quality of life of patients with hepatolenticular degeneration (HLD)and analyze the influencing factors.Methods287 patients with HLD and 51 health people were investigated by World Health Organization quality of life assessment instrument brief version (WHOQOL-BREF),Symptom Checklist 90 (SCL-90),Life Satisfaction Index A (LSIA) and variance analysis,t-test and multiple linear regression analysis were analyzed the influencing factors.Results①Scores of WHOQOL-BREF:physical domain(54.64 ± 17.11 ),psychological domain ( 52.09 ± 15.83 ) in patients with HLD were lower than those in the health people (67.30 ± 12.66,58.90 ± 12.75 ) with statistically significant difference (P ＜ 0.01 ) ; social domain ( 51.35± 17.18),the domain of environment(53.54 ± 16.67) in patients with HLD were lower than those in the health people (57.53 ± 14.99,58.42 ± 10.55 ) with statistically significant difference (P ＜ 0.05 ).②The quality of life of the patients with HLD was influenced by LSIA,total score of SCL-90,the attitude toward the doctors,economic status,the attitude toward the disease,residence with statistically significant difference (P ＜ 0.0l ).ConclusionThe quality of life in patients with HLD is lower than that in health people and much factors influence it,so it is necessary to take multi-facet interventions to improve their quality of life.

OBJECTIVETo observe the clinical effects of needle-pricking therapy, a newly medical and minimally invasive technique, for functional retrograde ejaculation and to explore its mechanism. Methods Thirty-six patients with functional retrograde ejaculation were randomly divided into an observation group(19 cases) and a control group(17 cases) In the observation group,needle-pricking therapy was used at Guanyuan(CV 4) and bilateral sacral plexus nerve,lumbar 1 nerve and greater occipital nerve stimulating points,once a week. In the control group, midodrine tablets were prescribed orally,three times a day. All the treatment was given for 9 weeks. The clinical effects of the two groups were observed, and the levels of luteinizing hormone(LH), testosterone(Tes) and estra4 diol(E2) were compared between the two groups.

RESULTSThe total effective rate of the observation group was, 89. 47%(17/19), which was better than 47.06% (8/17) of the control group(P<0. 05). The LH and Tes were obviously increased and E2 was decreased compared with those before treatment in the observation group(all P< 0. 01). Tes was raised(P<0. 05) and E2 was apparently declined in the control group(P<0. 01). After treatment, the differences of serum LH and Tes were statistically significant between the two groups(both P<0. 01).

CONCLUSIONNeedle-pricking therapy has advantages for functional retrograde ejaculation probably in that stimulating lumbosacral nerves can strengthen the function of pelvic floor muscles and urethral expansion muscle and regulate sexual gland axis.

Acupuncture Points ; Acupuncture Therapy ; Adult ; Ejaculation ; Humans ; Male ; Middle Aged ; Needles ; Sexual Dysfunction, Physiological ; physiopathology ; therapy ; Treatment Outcome

Objective:To study the anti-depression mechanism of Chaiyuwendan Decoction(CYWDD).Methods:Rat models were established by separation and chronic unpredictable mild stress(CUMS).Ethology of rats were detected by open-field test and sucrose consumption test,contents of monoamine neurotransmitters were detected by HPLC-ECD.Results:Compared with normal group,the weight,the frequency of crossing,rearing and the contents of consumption to sucrosum water in depressive disorder rats decreased significantly(P

Objective To establish a fast and effective gene diagnosis method for Wilson's disease(WD) patients by double PCR-SSCP technology.Methods We amplificated exon8 and exon12 of ATP7B gene by double PCR from genomic DNA of 140 unrelated WD patients and 30 normal controls,then used SSCP technology to screen them.At last we identificated these patients' mutation features by direct sequencing.Results No abnormality shift was found in 30 controls.In 140 patients,we found 7 types of abnormal mobility shifts in 66 cases(47.14%).In subsequent direct sequencing,mutation rate of Arg778Leu/Gln was 37.14%(52/140),and Thr935Met was 12.86%(18/140).Conclusion Double PCR-SSCP diagnosis technology is a effective method which can improve diagnosis rate for Wilson disease.

Objective To examine the brain metabolic changes in WD patients receiving copper chelation by us?ing 1H-MRS. Method Thirty-nine patients with WD was randomly divided into four groups: non-brain type group (18 cases), brain type prior-treatment group and short-term treatment group (21 cases), long-term treatment group (20 cases) from short-term treatment group, and 20 healthy volunteers served as a control group. 1H-MRS and MRI were performed on patients on 1.5/MR/MRS system to detect these above-mentioned items before and after treatment. Result The mean of NAA/Cr was significantly lower in the left putamen and head of the caudate nucleus than in the left basal ganglion in the 39 patients with WD. The mean of NAA/Cr and Cho/Cr in the left putamen and basal ganglion was significantly lower in non-brain type group than in control group(P<0.01). The mean of NAA/Cr Cho/Cr and NAA/Cho in the left putamen,head of the caudate nucleus and basal ganglion were significantly lower in brain type group than in control group(P<0.01 or P<0.05). The mean of NAA/Cr in the left putamen was much lower in brain type group than in non-brain type group (P<0.01). The mean of NAA/Cr, Cho/Cr and NAA/Cho of short-term treatment group in the left putamen, head of the caudate nucleus and basal ganglion was not significantly different between brain type group and short-term treatment group(P>0.05). The mean of NAA/Cr and NAA/Cho in the left putamen and basal ganglion was much higher in long-term treatment group than in brain type group(P<0.01 or P<0.05). The mean of Cho/Cr in the left head of caudate nucleus were much higher after treatment compared with prior-treatment group(P<0.05). The mean of NAA/Cr in the left putamen, head of the left caudate nucleus and basal ganglion in all groups was negatively correlated with course of the disease. Conclusion There are significant differences in brain metabolism among different type of WD. The long-term but not short-term copper chelation significantly improves brain metabolism. NAA/Cr may be used as a non-invasive indicator to examine the efficacy of treatment.

OBJECTIVETo study the clinical and genetic characteristics of twins and siblings affected with Wilson's disease (WD).

METHODSClinical data and blood samples were collected from the subjects after informed consent was obtained. Genomic DNA was extracted and potential mutations in the exons in ATP7B gene were detected with PCR-DNA sequencing. Short tandem repeat (STR) genotyping was performed to determine the zygosity of the twins.

RESULTSThe 5 pairs of twins have all met the diagnostic criteria for WD. STR genotyping has confirmed that 4 pairs were monozygotic twins. 3 pairs of twins had an onset with liver symptoms, the other 2 had an onset with brain symptoms. ATP7B gene mutations were detected in 4 pairs of twins, which have all located in exons 8 and 13. A heterozygous p.R778W mutation in exon 8 and homozygous p.P992L mutation in exon 13 were detected in all patients from one family, whose parents have carried a heterozygous p.R778W mutation and p.P992L heterozygous mutation, respectively, which suggested loss of heterozygosity (LOH). In one family, no mutation was detected in all exons of the ATP7B gene in the patients and their parents. For a triplet, one female was with definite WD and brain symptoms at the onset, one male had subclinical type with WD, whilst another female was completely normal. The triplets and their mother have all carried a p.P992L heterozygous mutation .

CONCLUSIONAbove results have confirmed an important role for genetic factors in the pathogenesis of WD. In addition to point mutations, LOH is also involved in the pathogenesis for WD.

Adenosine Triphosphatases ; genetics ; Adolescent ; Base Sequence ; Cation Transport Proteins ; genetics ; Child ; Child, Preschool ; Copper-transporting ATPases ; Exons ; Female ; Genotype ; Hepatolenticular Degeneration ; diagnosis ; genetics ; Humans ; Loss of Heterozygosity ; Male ; Mutation ; Siblings ; Twins ; Young Adult

Objective: To report a case of peripheral neuropathy secondary to copper deficiency (CD) by long-term decoppering chelation in Wilson′s disease (WD) to enhance understanding of the disease, and to pay more attention to individualized treatment of WD. Methods: A case of WD diagnosed 12 years ago confirmed by gene detection and since then treated with anti-copper agent was diagnosed as CD based peripheral neuropathy and significant neutropenia and followed up for six months, and the clinical manifestations, laboratory examination, electrophysiology, imaging features were summarized. The related literatures were reviewed. Results: A total of 16 cases of WD complicated with CD were reviewed and analyzed, including seven males and nine females aged 13-56 years. All of them were treated with zinc for 1-38 years, and nine cases with peripheral neuropathy. Hematological indicators can be significantly improved and neurological symptoms can be partially alleviated after stopping copper removal treatment. Conclusions Peripheral neuropathy in a WD with treatment-related CD may occur in blind treatment, irregular treatment monitoring and without individualized treatment adjustment. It is necessary to monitor blood routine, copper and zinc metabolism regularly and advocate individualized treatment of WD.

Objective The present study aimed to establish a bone mineral density (BMD) reference database in China and to investigate the prevalence of osteoporosis in Chinese adults aged 50 years and older using dual energy X-ray absorptiometry (DXA). Method A total of 75321 examineers over 25 years old who underwent health checkups in 7 health check centers between 2008 and 2018 were included. All centers used a GE Lunar-DXA system to measure BMD of the lumbar spine (L1-L4), femoral neck, and total femur. The same European Spine Phantom (ESP) was used for scanning 10 times at every center, a regression equation was generated, and BMD data were cross-calibrated in each center. Peak BMD and standard deviation (SD) were identified according to 5-year age groups, and T scores were calculated based on the peak BMD and SD. Osteoporosis was defined according to the World Health Organization criteria. The prevalence of osteoporosis was standardized based on 2010 national census data for the Chinese population. Result The mean BMD values decreased with age, were highest in North China, followed by Northeast China, East China, and Southwest China, respectively, and increased with body mass index. Males aged 20-30 years and females aged 35-40 years had peak BMD values. Peak BMD values of the lumbar spine, femoral neck, and total femur were 1.09 g/cm2, 0.97 g/cm2, and 0.97 g/cm2 in males, and 1.11 g/cm2, 0.84 g/cm2, and 0.88 g/cm2 in females, respectively. Among all scanned sites, the prevalence of osteoporosis was highest in the femoral neck in males (4.58％) and in the lumbar spine in females (23.38％). The age-standardized prevalence of osteoporosis at any site was 6.46％ in males and 29.13％ in females aged 50 years and older. Based on the 2010 national census data, 10879115 males and 49286542 females currently have osteoporosis. Conclusion Mean BMD values varied according to geographic region, body mass index, age group, and sex in Chinese adults. The age-standardized prevalence of osteoporosis was 6.46％ in males and 29.13％ in females aged 50 years and older.

ObjectiveTo investigate the therapeutic effect of Baihe Wuyaotang （BWT） on non-alcoholic fatty liver disease （NAFLD） and elucidate its underlying mechanism. MethodC57BL/6J mice were randomly assigned to six groups： normal control， model， positive drug （pioglitazone hydrochloride 1.95×10^-3 g·kg^-1）， and low-， medium-， and high-dose BWT （1.3，2.5 and 5.1 g·kg^-1）. Following a 12-week high-fat diet （HFD） inducement， the mice underwent six weeks of therapeutic intervention with twice-daily drug administration. Body weight was monitored weekly throughout the treatment period. At the fifth week， glucose tolerance （GTT） and insulin tolerance （ITT） tests were conducted. Subsequently， the mice were euthanized for the collection of liver tissue and serum， and the subcutaneous adipose tissue （iWAT） and epididymal adipose tissue （eWAT） were weighed. Serum levels of total triglycerides （TG） and liver function indicators，such as alanine aminotransferase （ALT） and aspartate aminotransferase （AST）， were determined. Histological examinations， including oil red O staining， hematoxylin-eosin （HE） staining， Masson staining， and transmission electron microscopy， were performed to evaluate hepatic lipid deposition， pathological morphology， and ultrastructural changes， respectively. Meanwhile， Western blot and real-time quantitative polymerase chain reaction （Real-time PCR） were employed to analyze alterations， at both gene and protein levels， the insulin signaling pathway molecules， including insulin receptor substrate 1/2/protein kinase B/forkhead box gene O1 （IRS1/2/Akt/FoxO1）， glycogen synthesis enzymes phosphoenolpyruvate carboxy kinase （Pepck） and glucose-6-phosphatase （G6Pase）， lipid metabolism-related genes stearoyl-coA desaturase-1 （SCD-1） and carnitine palmitoyltransferase-1 （CPT-1）， fibrosis-associated molecules α-smooth muscle actin （α-SMA）， type Ⅰ collagen （CollagenⅠ）， and the fibrosis canonical signaling pathway transforming growth factor-β₁/drosophila mothers against decapentaplegic protein2/3（TGF-β₁/p-Smad/Smad2/3）， inflammatory factors such as interleukin（IL）-6， IL-8， IL-11， and IL-1β， autophagy markers LC3B Ⅱ/Ⅰ and p62/SQSTM1， and the expression of mammalian target of rapamycin （mTOR）. ResultCompared with the model group， BWT reduced the body weight and liver weight of NAFLD mice（P<0.05， P<0.01）， inhibited liver lipid accumulation， and reduced the weight of white fat： it reduced the weight of eWAT and iWAT（P<0.05， P<0.01） as well as the serum TG content（P<0.05， P<0.01）. BWT improved the liver function as reflected by the reduced ALT and AST content（P<0.05， P<0.01）. It improved liver insulin resistance by upregulating IRS2， p-Akt/Akt， p-FoxO1/FoxO1 expressions（P<0.05）. Besides， it improved glucose and lipid metabolism disorders： it reduced fasting blood glucose and postprandial blood glucose（P<0.05， P<0.01）， improved GTT and ITT（P<0.05， P<0.01）， reduced the expression of Pepck， G6Pase， and SCD-1（P<0.01）， and increased the expression of CPT-1（P<0.01）. The expressions of α-SMA， Collagen1， and TGF-β₁ proteins were down-regulated（P<0.05， P<0.01）， while the expression of p-Smad/Smad2/3 was downregulated（P<0.05）， suggesting BWT reduced liver fibrosis. BWT inhibited inflammation-related factors as it reduced the gene expression of IL-6， IL-8， IL-11 and IL-1β（P<0.01） and it enhanced autophagy by upregulating LC3B Ⅱ/Ⅰ expression（P<0.05）while downregulating the expression of p62/SQSTM1 and mTOR（P<0.05）. ConclusionBWT ameliorates NAFLD by multifaceted improvements， including improving IR and glucose and lipid metabolism， anti-inflammation， anti-fibrosis， and enhancing autophagy. In particular， BWT may enhance liver autophagy by inhibiting the mTOR-mediated signaling pathway.