GNPTAB c.2404C > T nonsense mutation in a patient with mucolipidosis III alpha/beta: a case report.

BACKGROUND: Mucolipidosis alpha/beta is an inborn error of metabolism characterized by deficiency of GlcNAc-1-phosphotransferase, in which essential alpha/beta subunits are encoded by the GNPTAB gene. The autosomal recessive condition is due to disruptions of hydrolase mannose 6-phosphate marker generation, defective lysosomal targeting and subsequent intracellular accumulation of non-degraded material. Clinical severity depends on residual GlcNAc-1-phosphotransferase activity, which distinguishes between the milder type III disease and the severe, neonatal onset type II disease. CASE PRESENTATION: We report the clinical, biochemical and genetic diagnosis of mucolipidosis III alpha/beta in a two-year-old Chinese boy who initially presented with poor weight gain, microcephaly and increased tone. He was confirmed to harbor the common splice site mutation c.2715 + 1G > A and the nonsense variant c.2404C > T (p.Q802*). Clinically, the patient had multiple phenotypic features typical of mucopolysaccharidosis including joint contractures, coarse facial features, kypho-lordosis, pectus carinatum and umbilical hernia. However, the relatively mild developmental delay compared to severe type I and type II mucopolysaccharidosis and the absence of macrocephaly raised the possibility of the less commonly diagnosed mucolipidosis alpha/beta. Critical roles of lysosomal enzyme activity assay, which showed elevated α-iduronidase, iduronate sulfatase, galactose-6-sulphate sulphatase, arylsulfatase B and α-hexosaminidase activities; and genetic study, which confirmed the parental origin of both mutations, were highlighted. CONCLUSIONS: The recently reported nonsense variant c.2404C > T in the GNPTAB gene is further recognized and this contributes to the genotype-phenotype spectrum of mucolipidosis alpha/beta.

Analysis on correlation between serum lipids and thyroid function after discontinuation of thyroid hormone in patients with differentiated thyroid cancer / 国际检验医学杂志

Objective To study the correlation between serum lipids and thyroid function after withdrawn of thyroid hormone in the patients with differentiated thyroid cancer .Methods One hundred and thirty cases of differentiated thyroid carcinoma treated by operative therapy in our hospital form August 2014 to August 2015 were selected .Serum FT4 ,TSH ,FT3 ,triglyceride ,total cho-lesterol ,LDL-C ,HDL-C indexes were detected before discontinuation of levothyroxine sodium (L-T4) ,before operation and 3 weeks after drug withdrawn .Thus the correlation between blood lipid levels and thyroid function was analyzed .Results The HDL-C and the TSH level was positively related before operation (P0 .05);the blood lipid levels after medication withdrawn had no obvious correlation with thyroid function (P>0 .05);the total cholesterol levels after medication discontinuation had negative correlation with FT 3 and FT4 levels(P<0 .05);HDL-C was nega-tively correlated with FT3 and FT4 levels(P<0 .05) ,and positively correlated with TSH level (P<0 .05);LDL-C was negatively correlated with FT4 (P<0 .05) .Conclusion When the application treatment of thyroid hormone is suspended ,with the TSH level increase ,the HDL-C level has somewhat elevation ;total cholesterol ,HDL-C and LDL-C levels are negatively correlated with FT 3 and FT4 ,after discontinuation of medication withdrawn ,the blood lipids metabolism abnormality is closely related with thyroid function decline .

Investigation on Clonorchis sinensis infection and its risk factors in Futian District,Shenzhen City / 中国血吸虫病防治杂志

Objective To understand the status of Clonorchis sinensis infection and its risk factors in Futian District Shen?zhen City so as to provide the evidence for formulating the strategy of prevention and control. Methods Two monitoring points were randomly selected and the permanent population aged≥3 years were investigated and their stool samples were detected for the eggs of C. sinensis by using Kato?Katz technique. Meanwhile the risk factors of infection were also investigated. Results A total of 743 subjects were examined and 7 persons were infected with C. sinensis and the infection rate was 0.94%. Most of the infected cases were focused on 20?40 and 40?60 age groups. The risk factors were eating raw or semi?cooked fish and the protec?tive factor was the use of separated cutting board for cooked or uncooked food. Conclusion The infection rate of C. sinensis is low in the population of Futian District. However the health education especially for diet health education still should be strengthened.

Analysis of carrying status and drug susceptibility of Streptococcus agalactiae in genital tract of pregnant women / 国际检验医学杂志

Objective To understand the carrying status and drug resistance of streptococcus agalactiae in the genital tract of pregnant women.Methods The vaginal discharge from pregnant women was collected for conducting the bacterial culture.The iso-lated streptococcus agalactiae was performed the identification and the drugs susceptibility test by the VITEK 2 fully automatice bacterial identification analyzer.Results Among 1 042 samples,streptococcus agalactiae was isolated in 6 cases with the separation rate of 5.4%.The drug sensitivity test showed the Streptococcus agalactiae was highly sensitive to penicillin,cefazolin,vancomycin, linezolid and nitrofurantoin.The intermediate strains or drug resistant strains were not found.The sensitive rate to levofloxacin, moxifloxacin and clindamycin,erythromycin,tetracycline were 84.0%,84.0%,71.4%,39.3% and 8.9% respectively.Conclusion The carrying rate of streptococcus agalactiae in pregnant women is not high in our hospital.Penicillin and cefazolin should be as the drug of first choice for therapy and the clincal and laboratory nould payattention to detection of streptococcus agalactiae in pregnant women.

Aquaporin-4 autoantibody: a neurogenic cause of anorexia and weight loss.

Neuromyelitis optica (NMO) is a severe inflammatory demyelinating disease often associated with a highly specific autoantibody, aquaporin-4 antibody. Although the classic syndrome involves the optic nerves and spinal cord, aquaporin-4 antibody has been important in defining the true spectrum of NMO, which now includes brain lesions in areas of high aquaporin-4 expression. Brainstem involvement, specifically area postrema involvement in the medulla, has been associated with intractable vomiting in some patients with NMO. We describe a 14-year-old female with positive aquaporin-4 antibody whose clinical course was dominated by severe anorexia with associated weight loss (from 68-41kg; body mass index 25.2-15.6). Magnetic resonance imaging showed lesions in the medulla, pons, and thalami. Although she had asymptomatic radiological longitudinally extensive transverse myelitis, she never had symptoms or signs referable to the spinal cord or the optic nerves. We propose that anorexia and weight loss should be considered part of the NMO spectrum, probably related to area postrema involvement.

Conformational organizations of G-quadruplexes composed of d(G(4)T(n))(3)G(4).

Structural polymorphism is one of the important issues with regard to G-quadruplexes because the structural diversity may significantly affect their biological functions in vivo and their physical property in nano-material. A series of oligonucleotides with four repeat guanines sequence [d(G(4)T(n))(3)G(4) (n=1-6)] were designed. In this study, the effects of loop length on the formation of structures of G-quadruplex were investigated through the result of CD (circular dichroism) and 20% non-denatured polyacrylamide gel electrophoresis. Our studies demonstrate that the length of loop in 100mM KCl solution could predict the conformation of G-quadruplex.