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Lesch-Nyhan syndrome(LNS) is a congenital X-linked recessive inherited disorder caused by mutations in the hypoxanthine guanine phosphoribosyl transferase (HPRT) gene.A deficiency of the HPRT enzyme is responsible for the disease.The main clinical manifestation includes hyperuricemia, juvenile-onset gouty arthritis and neurological developmental disorders.Studies have reported there are more than 400 HPRT gene mutation sites, but the incidence of LNS in the Chinese population is extremely low.Here we report a 16-year-old male patient who suffered neurological dysfunction at an early age and gouty arthritis in his youth.DNA of patient and his family members were extracted from peripheral blood lymphocytes.The coding region and the intron-exon boundaries of HPRT gene were sequenced by standard methods.We found a mutation in exon 3 of the HPRT gene of the patient and his mother (Exon3:c.143G>A), which resulted in an arginine to histidine (p.R48H) substitution in the encoded protein.No activity of the enzyme HPRT was detected in the erythrocytes.The same mutation was reported in several European families, but was found in Chinese family for the first time.Clinicians in China have poor experience in diagnosing LNS case, due to the low incidence in China.Therefore LNS screening for infants or adolescents with hyperuricemia, gouty arthritis and neurological dysfunction should be performed.
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OBJECTIVE:To compare the efficacy and safety of Sodium hyaluronate versus Carbomer,Polyethylene glycol,To-bramycin and Dexamethasone in the treatment of glaucoma with cataract. METHODS:464 glaucoma patients with cataract were randomly divided into group A(116 cases),group B(116 cases),group C(116 cases)and group D(116 cases). All patients re-ceived intraocular lens implantation;1-1.5 cm to Tramycin and Dexamethasone eye ointment,3-5 times a day. Based on it,group A received 1-2 Sodium hyaluronate eye drops,4 times a day. Group B received 1 Carbomer eye drop,3-5 times a day. Group C re-ceived 1-2 Polyethylene glycol eye drops,3-5 times a day. Group D received Tobramycin and dexamethasone eye ointment,1-1.5 cm every times,1-3 times a day. They treated for 1 month. Clinical efficacy,recovery of visual acuity and ocular surface functions [dry eye symptom score,tear film break-up time(BUT),corneal fluorescein staining(CFS),basal tear secretion(SIt),ocular sur-face disease index(OSDI)] and the incidence of adverse reactions in all groups were observed. RESULTS:The total effective rate sorted,patients with visual acuity higher than 0.6,BUT,OSDI by group A>group B>group C>group D,with significant differenc-es (P0.05). CONCLUSIONS:Sodium hyaluronate shows superior efficacy and safety to Carbomer,Polyethylene glycol,Tobramycin and Dexamethasone in the treatment of glaucoma with cataract,it can significantly improve visual acuity and ocular surface function.
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Most of the maxillary first premolar are single-rooted,there are also two-rooted and three-rooted ones.A case of three-rooted maxillary first premolar was diagnosed by CBCT.CBCT has the advantage in the observation of the variation root number,root canal bending and the variation of root canal morphology.
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Objective To evaluate the clinical significance of rearrangements during transfection of papillary thyroid cancer (RET/PTC) 1,3 in fine needle aspiration (FNA) specimen from regional thyroid nodules by FQ-PCR.Methods Two hundred and eighty-five FNA samples were collected from patients with thyroid nodules during January 2012 to January 2013.RET/PTC1,3 rearrangements were detected with FQ-PCR.Results The frequencies of the RET/PTC1 and RET/PTC3 rearrangements in 285 FNA samples were 17.2％ (49/285) and 1.4％ (4/285),respectively.During 21.7 months of follow-up,19 (40.4％,19/47) RET/PTC1 positive patients were confirmed to have papillary thyroid carcinoma(PTC) after operation.In the patients with RET/PTC1 rearrangement PTC was found in Thy5 and Thy4 groups.In Thy 2 group,22.6％ cases with RET/PTC1 rearrangements developed PTC as compared with 3.2％ cases without it(x2 =6.667,P＜0.01).In addition,8.5％ (4/47) RET/PTC1 rearrangements emerged in benign lesions.Conclusions It is convenient and reliable to detect RET/PTC1,3 rearrangements by FQ-PCR using FNA samples.RET/PTC1 rearrangement frequently occurs in PTC,however it would be detected in benign lesions occasionally.
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Objective To investigate the depression and its influential factors in the elderly with hypertension in communities,so as to provide the theoretical evidence for practicing intervention for community health workers.Methods According to uniform inclusion and exclusion criteria,350 elderly people aged 60 years and over in Changxing Community and Town God's Temple Community in Changzhi city included hypertensive patients and healthy persons who were extracted by stratified random sampling method.The face-to-face survey method was taken,and the questionnaire included general information and Geriatric Depression Scale (GDS).All data were through statistical analysis by SPSS 13.0.Results The incidence of depression was higher in elderly hypertensive patients (scores:11.70±6.67,56.4%) than in normal elderly persons [scores:(6.49+5.97,21.3)%,t=-7.314,x2=41.489,P<0.01].The results of multiple stepwise regression analysis showed the influencing factors of depression were subjective symptoms,complicating disease,knowledge of hypertension,co-living family and economic burden.Conclusions The incidence of depression is higher in elderly hypertensive patients than in normal elderly people.If community health workers do something to intervene the influencing factors of the depression in elderly hypertensive patients,the incidence may be reduced.
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In healthy control group(group A),impaired fasting glucose group (group B) and diabetes group(group C),serum ferritin levels gradually raised[(170.7±91.8),(255.2±161.9) and (362.8±298.5) μmol/L].Hemoglobin Was elevated in impaired fasting glucose group,while returned to normal or even lower in diabetes group[group A(141.0±9.5),group B(148.2±11.2),group C(132.3±19.2)g/L].There was no difference in high sensitivity C-reactive protein among the groups.
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Objective To investigate the transition of uropathogens and drug resistance in patients with type 2 diabetes(T2DM)complicated with urinary tract infection(UTI)in recent 10 years.Methods A total of 392 cases of T2DM with UTI were included in the study.The patients were divided into 2 groups according to time of hospitalization:group A(January 1998 to December 2002)and group B(January 2003 to December 2007).Clinical information,distilbution of uropathogens and antibiotic resistance between the two groups were analyzed.Results The most common pathogens isolated were Escherichia coli(50/152,32.89%),followed by Candida albicans(21/152,13.82%)and Enterococcus faecium(15/152,9.87%).Of the various pathogenic organisms isolated in group B,there were 16 new species not seen in group A.Escherichia coli was found to have higher resistant rates to ciprofloxacin and ceftriaxone in group B than in group A(80.8%vs.42.8%,26.9%vs.0,respectively).Enterococcus faecium was found to be more susceptibility to tetracycline in group B than in group A(0 vs.100.O%).Conclusion Species of uropathogens in T2DM patients ale increased,and the isolates are of high drug resistance,which should be noted in clinic.
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Observation revealed the abnormalities (increased CD 4 and Th, decreased Tc) in patients of Graves′ disease, and these abnormalities were not significantly adjusted after 6 weeks of treatment with methimazole (MMI), or with MMI and methotrexate (MTX), though the soluble interleukin-2 receptor and thyroid autoantibodies slightly decreased in both groups. However, the addition of MTX did not show any better effects than MMI alone in the treatment.
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Objective: To investigate the anti-oxidation activity of astaxanthin. Method: Free radical scavenging properties were investigated in modified chemical system. The antioxidation activity of astaxanthin and vitamin E for linoleic acid autooxidation, hydroxy radical and DPPH radical was detected by spectrophotometry. Results: Astaxanthin could inhibit autooxidation of linoleic acid effectively and its inhibition and elimination rate to hydroxy radical was higher than vitamin E. The elimination rate was 95.98% at the concentration of 50 ?g/ml astaxanthin. Although the effect of astaxanthin on eliminating DPPH radical was slightly lower than vitamin E, but the elimination rate still high to 97.0% at concentration of 80 ?g/ml. Conclusion: Astaxanthin has obvious anti-oxidation activity.
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Objective To study the preventive and therapeufic effect of sheep bone collagen peptide (SBCP) on osteoporosis of ovariectomized rats. Method Thirty-two 3.5 mon unmated SD female rats were randomly divided into 4 groups by weight:blank group (sham operation), control group (ovariectomized), sample 1 group (ovariectomized and fed freeze drying SBCP) and sample 2 group (ovariectomized and fed spray drying SBCP). Seven days after ovariectomy,the blank group and ovariectomized group were given distilled water (1 ml/100 g?d), the sample 1 and sample 2 group were given sample 1 and sample 2 (1000mg/kg.d). Body weight, feed efficiency, serum bone metabolizing index and bone density (BD), length and diameter of femur were measured 10 w later. Results The alkaline phosphatase (ALP) of ovariectomized or control group was significantly increased, but the increase was restrained in sample 1 and sample 2 group. The BGP of ovariectomized group was significantly higher than that of the blank group, and the BGP of sample 1 and sample 2 group was lower than that of the ovariectomized group, nearly equal to the blank group. The BD of ovariectomized group was declined significantly, but that of sample 1 and sample 2 group was declined slowly. The BD of sample 2 group washigher than that of ovariedomized group, even similar to the blank group. The length and diameter of femur in the sample groups were larger than those of ovariectomized group. The effect of sample 1 and sample 2 on serum bone metabolism indices and femur size was not significantly different. Conclusion Sheep bone collagen polypeptide can reduce the resorption of bone, promote bone growth, and also reduce postmenopausal osteoporosis effectively. The different drying methods have no difference in the anti-osteoporosis effect.