ABSTRACT
Objective To evaluate the sensitivity and specificity of enzyme assays,and to provide disease spectrum of lysosomal storage diseases (LSDs).Methods Three thousand three hundred and sixty-four high risk individuals were screened for 24 LSDs at Guangzhou Women and Children's Medical Center between January 2009 and December 2016.Twenty-two kinds of enzyme activities from peripheral blood leucocytes or plasma were measured by using the fluorometry or colorimetry of corresponding artificial substrates,screening for 24 LSDs diseases.Measurement data were represented by (x) ± s,and count data were expressed as a percentage or composition ratio.Results A total of 283 subjects were diagnosed with 18 different kinds of LSDs,and the positive rate of high-risk screening was 8.4％.Among the identified patients,172 cases (60.8％) were mucopolysaccharidosis (MPS),79 cases (27.9％) were sphingolipidoses,18 cases (6.4％) were Pompe diseases,10 cases (3.5％) were affected with mucolipidoses,3 cases (1.1％) were glycoprotein storage diseases,and 1 case(0.4％) was Wolman disease.Of the MPS cases,there were 75 cases of MPS Ⅱ (43.6％),45 cases of MP5 ⅣA (26.2％),24 cases of MPS Ⅵ (14.0％) and 20 cases of MPS Ⅰ (11.6％).Gaucher disease (23/79 cases,29.1％) and metachromatic leukodystrophy (MLD) (21/79 cases,26.6％) were common in sphingolipidoses group.Both the sensitivity and specificity of enzyme assays on peripheral blood leucocytes for LSDs were 100％.Conclusions The most common kinds of LSDs are MPS Ⅱ,MPS Ⅳ A,MPS Ⅵ,Gaucher disease,MLD and Pompe disease.Leukocyte enzymology analysis of high-risk screening LSDs has high sensitivity and specificity.
ABSTRACT
Objective To analyze the relationships and differences of the clin(HFMD) ical signs and the possibility of children with herpangina developing into HFMD by observing the clinical signs.Methods Eighty children diagnosed herpangina clinically firstly were divided into Group A,B and C.Group A included 42 cases with only herpangina,and Group B including 28 cases who were herpangina developing into mild HFMD and Group C including 10 cases with serve HFMD.The clinical signs of the three groups,including blood routine test and lymphocyte count,neutrophil count,and monitor the degree of fever,blood pressure,heart rate,respiratory and digestive system,nervous system symptoms were recorded.Results In Group A,B and C,white blood cell number,lymphocyte number,neutrophil number were no significant difference(P ＞ 0.05).However,fever degree,thermal history,heart rate,respiratory rate,systolic pressure,diastolic pressure were significant differences (F =5.03,3.62,4.83,3.65,6.72,3.74 ; P ＜ 0.05).Meanwhile The sigh of loss of appetite,vomiting,diarrhea,gastrointestinal symptoms and easily frightened,limb jitter,sleepiness were statistically significant(x2 =6.10,5.75,4.86,3.58,3.42,4.35;P ＜0.05).Conclusion The herpangina children with symptoms and signs such as higher fever and higher blood pressure,simultaneously with diarrhea,vomiting,hyperarousal and amyostasia,have the more chance to develop HFMD.