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.

The pathogenesis of essence depletion and collateral impediment can summarize the characteristics of core pathogenesis of diabetic nephropathy (DN) and guide clinical treatment effectively.The pathogenesis of essence depletion emphasizes that kidney lesions is the core of five viscera lesions.Kidney deficiency indicates the consumption of kidney essence and deficiency induces the production of stagnation, dampness, stasis and turbidity.The pathogenesis of collateral impediment indicates that dampness, stasis and turbidity due to deficiency obstruct kidney collateral, even aggregation-accumulation is produced.Therefore collateral impediment is characterized by excess due to deficiency.The therapy of filling essence and freeing collaterals is proposed for DN treatment in the paper.The filling essence refers to nourishing kidney essence, and freeing collaterals refers to eliminating pathogens to free collaterals.It is a kernel therapy for DN.The nourishing kidney essence is a cornerstone in DN treatment, especially in middle or late stages of DN treatment.In early stage eliminating pathogens to resolve impediment (eliminating-freeing therapy) is stressed, and in late stage reinforcing healthy qi and eliminating pathogens (nourishing-freeing therapy) is emphasized.The healthy qi will not be damaged during eliminating pathogens.

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.

The obstruction of kidney collaterals by turbid and blood stasis is a characteristic pathogenesis of gouty nephropathy,which runs throughout the whole process of the disease.The pathogenesis of disease of gouty nephropathy is different from that of other chronic kidney diseases,determines the occurrence and development direction of patterns and symptoms,and is the common pathogenesis behind different patterns.The pathogenesis of pattern is the main body of pattern differentiation and treatment of gouty nephropathy,damp-heat obstruction and spleen-kidney deficiency and is the pathogenesis base of same treatment for different diseases.The pathogenesis of symptoms is a direct pathogenesis induced by symptoms.In treatment of gouty nephropathy,symptomatic treatment can improve the therapeutic effects based on disease and pattern differentiations.

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 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.