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Objective@#To study the characteristics of clinical diagnosis and treatment for 3 children with phytosterolemia. @*Methods@#The different clinical manifestations of 3 children with phytosterolemia were retrospectively reviewed. The case 1 and case 2, who were 7 years and 2 months old twin sisters, hospitalized for frequent epistaxis and abdominal pain. The case 3, who was 5 years and 7 months old male, came to the hospital for cutaneous xanthoma. The phytosterol levels in serum of the children were analyzed by gas chromatography-mass spectrometry, and the second generation sequencing method was used to analyze the disease-causing gene. Sanger sequencing method was used to verify the ABCG5 gene mutation and parental source. @*Results@#(1) The case 1 and case 2 showed moderate anemia, raised reticulocytes, total bilirubin and indirect bilirubin as well as splenomegaly. The blood smear showed that there were more irregular red blood cells, such as oral red blood cells, increased large/giant platelets, and ristomycin-induced platelet aggregation test was decreased. The urine routine examination indicated that there was bleeding in the urinary system. The results of blood lipid test were almost normal. The case 3 showed mild anemia with normal shape of erythrocyte and normal size of spleen. The large/giant platelets increased. The results of platelet aggregation test, bilirubin and urine routine examination were in normal range, but the levels of total cholesterol and low-density lipoprotein cholesterol increased significantly. (2) The levels of serum phytosterol were significantly increased in all the 3 children. (3) Two heterozygous mutations were detectable in ABCG5 gene of case 1 and 2 which were complex heterozygous mutation, i.e., c.9041G＞A and c.751C＞T. The variations were from their father and mother respectively. In case 3, only one homozygous mutation was detectable in ABCG5 gene which originated from their parents. @*Conclusion@#When the child showed increased large/giant platelets, hemolytic anemia, erythrocytosis or xanthoma of skin and rised total cholesterol and low-density lipoprotein cholesterol at first visit, the possibility of phytosterolemia should be considered. The blood phytosterol content and gene detection should be carried out as early as possible in order to treat early and improve prognosis.
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Objective To analyze the difference of serum levels of anti-Mullenan hormone (AMH) in chil-dren with different ages and different types of cryptorchidism,and to explore its role in the evaluation of tes-ticular development.Methods 60 children with simple cryptorchidism were selected as case group and 52 healthy children were selected as control group.The levels of serum AMH in two groups of children were measured and the differences were compared.Results (1)The level of AMH in the case group was lower than that in control group (P < 0.05),and there was no statistical significance between two subgroups of >6 to 11 years old children with cryptorchidism and healthy children (P>0.05).(2)The level of AMH in bi-lateral cryptorchidism group was lower than that in unilateral cryptorchidism group (P<0.05),and there was no significant difference between two subgroups of >6 to 11 years old children with bilateral cryptorchidism and unilateral cryptorchidism (P>0.05).(3)The level of AMH in the high level cryptorchidism group was lower than that of the low level cryptorchidism group (P<0.05),and there was no statistical difference be-tween between two subgroups of 3~11 year old children with cryptorchidism and low level cryptorchidism (P>0.05).(4)AMH level was negatively correlated with age,and positively correlated with testicular devel-opment.Conclusion AMH can be used as an important indicator of testicular development in children with cryptorchidism.
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Objective To evaluate the creditability of warning message of white differential count (WDF) and white precursor cell (WPC) channels in Sysmex XN-3000 hematology analyzer,and verify its optimal threshold and adjust the alarm threshold.Methods A total of 61 EDTA-K2 anticoagulated blood samples without abnormal warning and 521 EDTA-K2 anticoagulated blood samples with abnormal warning were simultaneously detected in WDF and WPC channels.After the smear specimens of blood sample were automatically prepared by the instrument,microscopic examinations were performed manually.The results of microscopic examination were considered as the gold standard to determine the reliability of the warning message from the instrument and verify the reasonability of initial warning threshold value provided by the manufacture.Consequently,the threshold values were adjusted based on the requirements in practical work.Results The warning messages of atypical lymphocytes and blasts/abnormal lymphocytes in WDF channel were higher sensitive (95.8％ and 100％ respectively),but lower specific (34.7％ and 23.5％ respectively) compared with microscopic examination.The warning messages of atypical lymphocyte,blasts and abnormal lymphocytes in WPC channel were lower sensitive (81.3％,66.7％,and 76.5％ respectively) but higher specific (61.9％,55.5％ and 88.3 ％ respectively) compared with microscopic examination.According to the ROC curve analysis,the prognostic values of warning message of microscopic examination were of medium level,except the warning message for abnormal lymphocytes was poor compared with WPC channel.Combining the practical retest rules,the optimal critical threshold values of atypical lymphocytes and blasts/Abn lymph in WDF channel were adjusted as 120,and they were adjusted as 140 in WPC channel.Conclusion The high sensitive WDF channel should first be used for screening,and the detectable warning message could be retested by using high specific WPC channel to shorten the turnaround time of the test results and improve the working efficiency.The initial critical warning threshold provided by the manufacture should be verified and adjusted to the optimum critical threshold in order to ensure the accuracy of test results.
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Objective To observe the effect of heat needle treatment on the inflammatory reaction in the damaged tissues of rats with the third lumbar transverse process syndrome. Methods Ninety Sprague-Dawley rats were randomly divided into 6 groups, namely normal group, model group, drug group, heat needle group, conventional acupuncture group and warming acup-moxibustion group, 15 rats in each group. The rat model of the third lumbar syndrome was established by embedding gelatin sponge. Two weeks later, the rats in various groups were given corresponding treatment respectively. Before treatment and on the 7th, 14th and 28th day of treatment, the blood samples were collected from jugular vein, and then the serum inflammatory cytokines of tumor necrosis factor alpha (TNF-α), interleukin (IL)-1β and IL-6 were detected by enzyme-linked immunosorbent assay (ELISA). On the 28th day of treatment, all of the rats were sacrificed, the expression levels of TNF-α, IL-1βand IL-6 mRNA in the muscle tissue were detected by reverse transcription quantitative real-time polymerase chain reaction (RT-qPCR), and the pathological changes in local muscle tissue were observed by HE staining method. Results The serum contents of the inflammatory cytokines of TNF-α, IL-1β and IL-6 in the model group and treatment groups after modeling were significantly higher than those in the normal group (P < 0.05). After treatment, the contents of TNF-α, IL-1β and IL-6 in various treatment groups were decreased significantly as compared with those in the model group, and the decrease was most obvious in the heat needle group. The expression levels of TNF-α, IL-1β and IL-6 mRNA in muscle tissues of drug group, heat needle group, conventional acupuncture group and warming acup-moxibustion group were lower than those of the model group (P < 0.05), and the heat needle group had the lowest levels. HE staining results showed that heat needle group had milder inflammatory reaction and better muscle fiber structure than the model group. Conclusion Heat needle treatment can improve the local inflammatory response and promote the repair of tissue damage through decreasing the expression levels of inflammatory cytokines of TNF-α, IL-1βand IL-6.
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Objective To analysis the expression of thyroid peroxidase antibody (TPOAb) ,thyroglobulin antibody (TGAb) and thyrotropin receptor antibody (TRAb) in vitiligo patients with different stages .Methods A total of 161 cases of vitiligo patients were divided into advanced group (n=84) and stable group (n=77) according to their condition ,and 60 healthy subjects were cho-sen as the control group .The serum levels of TPOAb ,TGAb and TRAb were detected in 3 groups ,and the difference of the expres-sion level and positive rate between the 3 groups were compared .Results The difference of TPOAb ,TGAb and TRAb levels a-mong the 3 groups was statistically significant (H=14 .371 ,6 .335 ,8 .284 ,P<0 .05) .Multiple comparison showed that :TPOAb , TGAb ,TRAb levels of the advanced group were higher than those of the stable group and the control group (Uvs .stable group =9 .380 , 7 .923 ,8 .381 ,P<0 .05 ;Uvs .control group =23 .244 ,19 .026 ,25 .873 ,P<0 .05);TPOAb ,TGAb ,TRAb levels of the stable group were higher than those of the control group(U=11 .356 ,12 .450 ,16 .351 ,P<0 .05) .The levels of TPOAb ,TGAb and TRAb in the 3 groups were as follows :the advanced group> the stable group> the control group .The positive rates of TPOAb ,TGAb and TRAb in the 3 groups were statistically significant(χ2 =18 .676 ,23 .618 ,23 .857 ,P<0 .05) .Multiple comparison showed that :the positive rates of TPOAb ,TGAb ,TRAb of the advanced group were higher than those of the stable group and the control group (χ2vs .stable group=5 .273 ,6 .484 ,6 .305 ,P< 0 .017;χ2vs .control group = 14 .997 ,18 .352 ,17 .829 ,P< 0 .017);the positive rates of TPOAb , TGAb ,TRAb of the stable group were higher than those of the control group(χ2 =5 .233 ,5 .036 ,6 .719 ,P<0 .017) .The positive rates of TPOAb ,TGAb and TRAb in the 3 groups were as follows :the advanced group> the stable group> the control group .Con-clusion The expression of thyroid autoantibodies (TPOAb ,TGAb ,TRAb) is abnormal in vitiligo patients ,and the progression of the disease is also related to the expression level of such antibodies .
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Objective To analysis the expression of thyroid peroxidase antibody (TPOAb) ,thyroglobulin antibody (TGAb) and thyrotropin receptor antibody (TRAb) in vitiligo patients with different stages .Methods A total of 161 cases of vitiligo patients were divided into advanced group (n=84) and stable group (n=77) according to their condition ,and 60 healthy subjects were cho-sen as the control group .The serum levels of TPOAb ,TGAb and TRAb were detected in 3 groups ,and the difference of the expres-sion level and positive rate between the 3 groups were compared .Results The difference of TPOAb ,TGAb and TRAb levels a-mong the 3 groups was statistically significant (H=14 .371 ,6 .335 ,8 .284 ,P<0 .05) .Multiple comparison showed that :TPOAb , TGAb ,TRAb levels of the advanced group were higher than those of the stable group and the control group (Uvs .stable group =9 .380 , 7 .923 ,8 .381 ,P<0 .05 ;Uvs .control group =23 .244 ,19 .026 ,25 .873 ,P<0 .05);TPOAb ,TGAb ,TRAb levels of the stable group were higher than those of the control group(U=11 .356 ,12 .450 ,16 .351 ,P<0 .05) .The levels of TPOAb ,TGAb and TRAb in the 3 groups were as follows :the advanced group> the stable group> the control group .The positive rates of TPOAb ,TGAb and TRAb in the 3 groups were statistically significant(χ2 =18 .676 ,23 .618 ,23 .857 ,P<0 .05) .Multiple comparison showed that :the positive rates of TPOAb ,TGAb ,TRAb of the advanced group were higher than those of the stable group and the control group (χ2vs .stable group=5 .273 ,6 .484 ,6 .305 ,P< 0 .017;χ2vs .control group = 14 .997 ,18 .352 ,17 .829 ,P< 0 .017);the positive rates of TPOAb , TGAb ,TRAb of the stable group were higher than those of the control group(χ2 =5 .233 ,5 .036 ,6 .719 ,P<0 .017) .The positive rates of TPOAb ,TGAb and TRAb in the 3 groups were as follows :the advanced group> the stable group> the control group .Con-clusion The expression of thyroid autoantibodies (TPOAb ,TGAb ,TRAb) is abnormal in vitiligo patients ,and the progression of the disease is also related to the expression level of such antibodies .
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Objective To investigate the change of serum ghrelin and sex hormones levels in girls with precocious puberty . Methods 87 girls with precocious puberty were divided into the simple premature thelarche (SPT ) and central precocious puberty (CPP) groups according to the results of gonadotropin releasing hormone(GnRH) stimulation test ,size of ovary and uterus ,and de-velopmental status of the secondary sex characteristics ,with 34 age-matched healthy girls as control group .The serum ghrelin level was quantitatively measured by enzyme-linked immunosorbent assay (ELISA) ,luteinizing hormone(LH) ,follicle stimulating hor-mone(FSH) ,estradiol(E2) ,progesterone(PRGE) ,prolactin (PRL) ,testosterone (TSTO) and LH and FSH stimulated by GnRH after 30 ,60 ,90 min were measured by chemoluminescence technique .Results The ghrelin level in the CPP group was significantly higher than that in the control group(P0 .05) .The 5 indexes of sex hormone (LH ,FSH ,E2 ,PRL , PRGE) in the CPP group were significantly higher than those in the SPT group and the control group (P0 .05);the TSTO level had no statistically sig-nificant difference among 3 groups(P>0 .05) .Conclusion The serum levels of ghrelin and 5 indexes of sex hormone (LH ,FSH , E2 ,PRL ,PRGE) in girls with CPP are significantly increased .
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Objective To observe the long-term efficacy of nasal endoscopy-guided high intensity focused ultrasound (HIFU ) in the treatment of allergic rhinitis .Methods 300 patients with allergic rhinitis who failed in medication were randomly divided into the treatment group(n=162) and the control group(n=138) .The patients in the treatment group were accepted the nasal endosco-py-guided HIFU therapy ,while the patients in the control group were subjected to the hypothermy plasma ablation .The two groups were followed up after operation ,and the visual analogue scale(VAS) was employed to evaluate the therapeutic efficacy at postoper-ative 3 ,6 ,12 ,24 months .The saccharin tests were performed at the beginning and ending of treatment to assess the nasal mucocili-ary function in the patients of the two groups who voluntarily accepted the functional test of nasal cilia .Results After 2-week treat-ment ,nasal congestion ,sneezing ,runny nose ,nasal itching and other symptoms in the two groups were significantly relieved with no obvious complication .2-year follow-up demonstrated that the total effective rate in the treatment group was 61 .4% ,which was markedly higher than 50 .7% in the control group(P=0 .017) .The average saccharin clearance time of the treatment group (n=49) and the control group(n=39) were(464 ± 152)s and(738 ± 149)s ,respectively ,and their difference was statistical significant (P=0 .026) .Conclusion The long-term efficacy of HIFU treatment in allergic rhinitis is superior to that of hypothermy plasma abla-tion ,possesses less impacts on the nasal mucociliary function ,and is worthy of clinical promotion .
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Objective To study the effect and mechanism of electroaeupuncture at acupoint Guanyuan on expression of brain-derived neurotrophic factor (BDNF) and tropomyosine receptor kinase B (TrkB) in spinal cord and excitability of detrusor of rat with urinary retention after spinal cord injury. Methods The model of urinary retention after spinal cord injury was established by using weight drop method. Eighty female Sprague-Dawley rats were randomly divided into four groups, namely, a normal, a sham, a model and an electroacupuncture (EA) group, with 20 rats in each group. The EA group was given electroacupuncture at aeupoint Guanyuau once a day for 10 days in total, while the other groups was given no treatment. After 10 days, the expression level of BDNF and TrkB in spinal cord of injury site was measured by immunohistochemistry staining, and excitability of detrusor was measured by using the muscle strips in vitro. Results It was revealed that, with regard to the expression level of BDNF and TrkB in spinal cord,the model group exceeded the normal and sham group, the EA group significantly exceeded the other groups ( P < 0. 05 ). With regard to the excitability of detrusor, the model group was significant-ly lower than the normal and sham group. The EA group significantly exceeded the model group ( P < 0.05 ). Conclusion Electroacupuncture at acupoint Guanyuan can raise the expression level of BDNF and TrkB in spinal cord and increase the excitability of detrusor in rats with urinary retention after spinal cord injury.
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Objective To study the effect of electro-acupuncture(EA)on bladder detrusor apoptosis in rats with urinary retention after spinal cord injury(SCI),compare the effectiveness of different acupoints and explore possible mechanisms.Methods One hundred female adult Sprague-Dawley rats were randomly divided into 5 groups:a normal group,a sham operation group,a model control group,a Guanyuan acupoint(RN4)EA group and a Shuidao acupoint(ST28)EA group,with 20 rats in each group.A model of urinary retention after SCI was established using the weight drop method.The EA groups were given EA once daily for 10 d.The other groups had no treatment.After 10 d of EA,an electron microscope was used to observe the bladder detrusor ultrastructure,and the terminal deoxynucleotidyl transferase dUTP nick end labeling(TUNEL) method and immunohistochemistry were used to observe any apoptosis in the detrusor smooth muscle cells and the expression of apoptosis-related genes bcl-2 and bax.Results After EA treatment,expansion of the rough endoplasmic reticulum was reduced significantly,and the number of edemic mitochondria was reduced compared with the model control group.In the normal and sham operation groups,little apoptosis was observed,and there was no significant difference between the two groups.Apoptosis indices(AIs)were higher in the model control group than in the normal group.The average AI in the Guanyuan EA group was lower than that in the Shuidao group.In the Guanyuan group,bax protein expression was less than that in the Shuidao group and the model group.In the Guanyuan group,bcl-2 protein expression was not significantly different from that in the Shuidao group and the model control group.Conclusion EA at the Guanyuan or Shuidao aeupoint can restrain bladder detrusor apoptosis in rats with urinary retention after SCI.EA may improve the ultrastructure of the detrosor urinae, reduce the expression of bax, change the ratio of bcl-2 to bax, and thus decrease apoptosis.The effect of EA at the Guanyuan acupoint is superior to that at the Shuidao acupoint.
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On the basis of ancient Chinese medical literature, this article summarized the clinical application of Shenmai (BL 62), an acupoint of bladder meridian of foot taiyang. Clinically,Shenmai (BL 62) is usually used to treat mental disorders, insomnia, motor system diseases and eye diseases.
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[Objective] To investigate the effects of Eucommia on renal interstitial fibrosis and its mechanism.[Methods]Using renal interstitial fibrosis in rats with Unilateral Ureteral Obstruction(UUO).Adult female SD rats(n=32) were randomly divided into 4 groups: Sham operation group (Sham); UUO group,Irbesartan group; Eucommia group.Undergo light microscopy by Masson and HE staining to observe the renal interstitial fibrosis index.To detect the expression of MMP-2 by immunohistochemistry 2w after surgery.[Results] 1.The levels of BUN and Scr in UUO group were significantly higher than in Sham group.Compared with UUO group,the levels of BUN and Scr in irbesartan and eucommia groups were significantly lower.There was no significant difference between irbesartan group and eucommia group.2.The renal tissue was stained with HE.There was no change in Sham group.But in UUO group,there was tubular epithelial cells denaturalization,renal tubular expand or atrophy,interstitial macrophage and monocyt infiltration,interstitial expand,and there was no glomeruli change.While the change in irbesartan and eucommia group was slighter than that in UUO group.There was no significant difference between irbesartan group and eucommia group.3.The renal tissue Masson staining showed that there was interstitial expands fibrous tissues proliferation and there was no glomeruli change in UUO group.Compared with UUO group,the level of pathological change in irbesartan and eucommia groups was significantly lower.There was no significant difference between irbesartan group and eucommia group.4.The expression and distribution of MMP-2 were strong in Sham group,while in other groups lower in renal interstitial.Compared with UUO group,the level in irbesartan and eucommia groups was significantly higher.There was no significant difference between irbesartan and eucommia groups.[Conclusion] Eucommia inhibits the renal interstitial fibrosis lesion up-regulating the MMP-2 expression and blocking renal fibrosis.