Objective To observe the brain abnormalities of the white matter and myelination in patients with BH4 deficiency using MRI examination, and to further estimate the effect of treatment. Methods Eleven patients with BH4 deficiency aged 17 weeks to 4 years were observed, including 9 cases who were detected by newborn screening program. Although those patients were treated with low phenylalanine diet, and the blood phenylalanine 1evels maintained to 120-240 ?mol/L, the patients presented progressive hypotonia, convulsion, and mental retardation. All cases were diagnosed as BH4 deficiency by analysis of urinary pterins profile, BH4 loading test, and determination of dihydropteridine reductase in RBC. The patients received MRI examination using a 0.5 T MR system. Results Delayed myelination was found in 11 cases (100%) in frontal lobe, 8 cases (72.2%) in occipital lobe, 4 cases (36.3%) in temporal lobe, and 3 cases (27.3%) in parietal lobe. Delayed myelination of corpus callosum could be found in 6 cases (54.5%). There were abnormal diffuse high signals in the white matter on T_2WI in all cases. Conclusion Patients with BH4 deficiency demonstrate a high occurrence of brain abnormalities in the white matter. Those abnormalities are related not only with hyperphenylalaninemia, but also due to the decreased synthesis of neurotransmitters, such as L-Dopa and 5-HTP, all of these could be the reasons of adverse effect of the development of white matter.

Objective: To investigate the absorption of EVA and PVC infusion sets to insulin.Methods: Two infusion sets of EVA and PVC were used to contain insulin which was mixed with TNA and preserved at 4℃ and 25℃ for o,8,24 and 48 h,respectively.The content of insulin was observeed for changes.Results: The content of insulin mixed with TNA in EVA bags was obviously higher than in PVC bags preserved at 25℃ for 48h(P

Objective To detect the prolactin (PRL)analytical performance verification by BECKMAN DxI 800 automated chemiluminescence analyzer.Methods According to the American Society for Clinical Laboratory Standards (NCCLS)doc-uments,selected the patient’s serum and EQA control materials,the precision,accuracy and linearity of the BECKMAN DxI 800 automated chemiluminescence analyzer system in detecting PRL were detected.Results The CV values of intra-and in-ter-precision were less than manufacturer’s declaration,and within the allowable range.The validation results of linear range showed that,a value of 1.0114,r value of 0.9974,both within the requirements of the instrument,and has excellent lineari-ty;the relative bias between the measured results and the EQA control samples at five levels was -1.18%~-7.78%,both within the scope of the EQA measurement.Conclusion The BECKMAN DxI 800 automated chemiluminescence analyzer system in detecting PRL in precision,accuracy,linearity and other performance indicators were within the requirements of the instrument,tomeet the requirements,can be used in clinical testing.

Objective: To assess the clinical features, diagnosis and treatment of gastrointestinal stromal tumor in the rectum.Methods: Records of 18 patients diagnosed as GIST in the rectum between January 2002 and April 2009 were re-viewed and the major clinical features, treatment modalities and outcomes were analyzed.Results: The clinical features of GIST in the rectum were nonspecific.Most patients manifested with bloody stool or changes in bowel habits.CT scan or MRI findings showed necrosis and/or hemorrhage in the tumor and well defined tumor margins.Even in the case of large GIST, no lymphadenopathy was not found, which could be a factor for the differential diagnosis of GIST from other rectal neoplasms.All of the resected tumor specimens showed positive expression of CD117 and CD34 in immunohistochemical staining.Low and very low risk patients accounted for 44.4% (8/18).All patients received surgery.Twelve patients were treated with local excision with different approaches.Anterior resection of the rectum (Dixon) was undertaken in three pa-tients and abdominoperineal resection (Miles) in three patients.Neoadjuvant therapy with imatinib was applied for three pa-tients with partial response.After a median follow-up of 34 months (1～84 months), recurrence and/or metastasis occurred in five patients, and three of them were treated with imatinib.One patient received Miles surgery after repeated local exci-sions.Only one patient died of bone metastasis.Recurrence-free survival (RFS) of the local excision group was longer than that of abdominoperineal resection (APR) group (75.0±8.4 months vs 26.0±11.1 months, P=0.023).Conclusion: The treatment for rectal GIST should be individualized and be different from that of rectal cancer.Treatment decision and choice of procedures should be based on careful preoperative evaluation of tumor size, location, extent and risk level.Most of the anorectal GIST were rated as low-risk in this cohort and could be excised locally by different approaches with satisfactory outcome.Neoadjuvant therapy with imatinib may benefit some patients to obtain the opportunity of sphincter-saving.

Multiple myeloma is common in the older population and is treated mainly with chemotherapy. However, chemotherapy-related side effects imitate the clinical manifestations of Sheehan's syndrome, which leads to misdiagnosis and missed diagnosis, particularly for older patients without a clear history of postpartum hemorrhage. Therefore, when older women with malignant myelomas show refractory hyponatremia and gastrointestinal disorders while under chemotherapy, a diagnosis of Sheehan's syndrome should be considered. The early detection of the disorder will guarantee timely individualized treatment.

Objective To detect the positively selected sites in the surface ( S) gene of hepatitis B viruses ( HBVs) from patients with occult HBV infection and to study the molecular mechanism of occult HBV infection.Methods The sequence of S gene from patients with occult HBV infection and reference strains of eight HBV genotypes ( A through H) were downloaded from GenBank and then alignment analysis were performed by using Clustal W software .Phylogenetic trees were constructed by using MEGA 5.05 soft-ware package.PAML4.7 was used to analyze positively selected sites .Results A total of 1286 HBV se-quences from patients with occult infection were searched in GenBank .One hundred and seventy-four com-plete gene sequences encoding surface S protein were screened after alignment analysis and confirmation , of which 13 sequences with nonsense mutation were removed .The likelihood ratio test showed that for both the 161 remained sequences and the 31 reference sequences , the selection models of M2, M3 and M8 were sig-nificantly better than the neutral models of M0, M1 and M7 (2△lnL<55.12, P<0.001).By using Bayes Empirical Bayes (BEB) analysis, 14 positively selected sites (including codon 3, 8, 40, 45, 46, 47, 49, 68, 126, 127, 164, 184, 207 and 210) were detected in the surface gene of HBVs from patients with occult HBV infection, eight of which were located at the immune epitope of HBsAg .However, only 2 positively se-lected sites were identified in reference sequences .Conclusion The long-lasting persistence of HBV in pa-tients with occult HBV infection might be caused by the adaptive evolution of their surface gene in a form of escape mutant under immune suppressive condition .

Objective To study the clinical diagnosis value and the clinical significance of combined measurement of CEA, DR70, NSE and CYFRA21- 1 in patients with lung cancer. Methods The serum levels of CEA, DR70, NSE and CYFRA21- 1 were determined by ELISA in 130 patients with lung cancer, 50 patients with benign pulmonary disease and 100 cases of normal controls. Results The levels of serum CEA, DR70, NSE and CYFRA21- 1 in lung cancer patients were significantly higher than that in benign pulmonary disease patients and controls (P

OBJECTIVETo detect free testosterone (FT) in the serum and semen of patients with idiopathic oligospermia, and further analyze the relationship between FT and idiopathic oligospermia.

METHODSBlood samples were collected from the males of a normal control group (n = 44) and an idiopathic oligospermia group (n = 44) at 8:00-10:00 a.m.. Semen samples were collected from the males of a normal control group (n = 30) and an idiopathic oligospermia group (n = 37) at the same time. Sperm density was detected by routine semen analysis, and FT in the serum and semen was detected by RIA.

RESULTSThere was no significant difference in the serum concentrations of FT between the groups of normal control [(97.50 +/- 46.96) pmol/L] and idiopathic oligospermia [(94.88 +/- 42.04) pmol/L], P > 0.5. But the difference was significant in the semen concentrations of FT between the groups of normal control [(2.01 +/- 0.32) pmol/L] and idiopathic oligospermia [(0.52 +/- 0.44) pmol/L], P < 0.01.

CONCLUSIONMeasurement of semen FT concentration could early reflect the function of the testis, which contributes to the early diagnosis and treatment of idiopathic oligospermia.

Adult ; Case-Control Studies ; Humans ; Male ; Middle Aged ; Oligospermia ; blood ; metabolism ; Semen ; chemistry ; Testosterone ; blood ; metabolism

Objective To investigate genotyps of Treponema pallidum (Tp) in several cities in Guangxi province. Methods A total of 300 patients with suspected early syphilis were enrolled from STD clinics in Guangxi between January 2012 and July 2016, and tissue fluid samples were collected from skin lesions. Silver staining was performed to detect Tp, and PCR to amplify the Tp polA gene for the diagnosis of early syphilis. Positive samples were subjected to PCR amplification of a 60-bp tandem repeat region within the arp gene, restriction fragment length polymorphism(RFLP)analysis of the tpr Ⅱgene after digestion with Mse Ⅰ enzyme and tp0548 genotyping. Results Finally, 215 patients were diagnosed with early syphilis, including 210(97.7%)patients positive for PCR and 105(48.8%)patients positive for silver staining, and the positive rate significantly differed between the two methods (χ2 = 103.01, P < 0.05). Among the PCR-positive samples, 190 could be genotyped by analysis of three target genes, and 17 genotypes were identified. The genotype 14d/f was predominant (45.3%, 86/190), followed by 15d/f (13.7%, 26/190), 16d/f(11.6%, 22/190), 17d/f(7.4%, 14/190), 13d/f(6.8%, 13/190), 10d/f(4.2%, 8/190), 18d/f(1.6%, 3/190), 16a/f(1.6%, 3/190), 5d/f(1.1%, 2/190), 7d/f(1.1%, 2/190), 12d/f(1.1%, 2/190), 16d/e(1.1%, 2/190), 14a/f(1.1%, 2/190), 9h/c(1.1%, 2/190), 15l/f(0.5%, 1/190), 25a/e(0.5%, 1/190), 15i/f(0.5%, 1/190). Conclusion Tp genotypes are diversified in patients with early syphilis in Guangxi, and the genotype 14 d/f is predominant.

ObjectiveTo evaluate the neurobiological characteristics of human histio-amniotic mesenchymal (hAMCs) and effect of hAMCs transplantation into the brain to treat Parkinson's disease(PD) modle mice.MethodsThe expressions of mesenchymal stem cells, neural stem cells, dopaminergic neurons and markers related to neurogenesis such as Vimentin, STRO-1, nestin, CD133, β-tubulin, TH, DAT, Ngn2 and mash-1 in hAMCs were evaluated through immunocytochemical stain; and the mRNA transcriptions of neural stem cell markers, Vimentin and nestin in hAMCs were detected by RT-PCR. The PD model was induced by MPTP(i.p.) in C57BL/6 mice transplanted with hAMCs into the right striatum. The therapeutical effect of hAMCs on PD mice was evaluated by spontaneous movement, rotating bar test and the immunohistochemistry of anti-human chondrosome and TH antibodies in striatum.ResultshAMCs induced by nerve cells culture medium, expressed mesenchymal stem cells, neural stem cells, dopaminergic neurons and other specific markers related to neurogenesis mentioned above. The frequency of spontaneous movement in PD mice was significantly increased(P<0-05), and the time of rotating bar was obviously prolonged(P<0-05) after transplantation with hAMCs.ConclusionhAMCs possess the characteristics of nerve cells after cultured in vitro and can significantly recover the damage of motor function induced by MPTP after transplantation into striatum in PD model mice.