A novel nonsense mutation p.W738X of GAA gene identified in a Chinese patient with infantile glycogen storage disease type Ⅱ / 临床儿科杂志

Objective To investigate the acid α glucosidase(GAA)gene mutations and clinical features of a Chinese patient exhibiting signs and symptoms of infantile glycogen storage disease type Ⅱ(GSD Ⅱ). Methods Clinical features of the patient were reviewed,and GAA activity in the patient＇s and her parents＇ whole leukocytes were measured. GAA coding regions were amplified by polymerase chain reaction(PCR),and analyzed by direct DNA sequencing. Results The patient showed feeding difficulties,generalized hypotonia and weakness starting at 2 months of age. Cardiomegaly and cardiomyopathy were found at 4 months. She died of cardiorespiratory failure at the age of 6 months. GAA activity in leukocytes was low in the patient(17.3% of the median normal range). Genotyping revealed the patient was a heterozygote for a novel nonsense mutation p.W738X and a previously reported nonsense mutation p.E888X. The reported pseudodeficiency allele c.1726G ＞ A;2065G ＞ Awas found in the patient and her mother. Conclusions Correct diagnosis was made for this patient by combination of GAA activity assay and genetic analysis. From the clinical course,this patient should be classified as infantile type of GSD Ⅱ,suggesting that the novel mutation p.W738X may have a damaging effect on the function of GAA. Pseudodeficiency allele found in this family highlights the importance of genetic analysis of GAA when performing diagnosis and prenatal diagnosis for the affected families,as this allele causes low GAA activity in normal individuals.

The trends of changes in children's blood lead levels since the introduction of lead free gasoline in Shanghai / 中华流行病学杂志

<p><b>OBJECTIVE</b>To describe trends of changes in blood lead levels in children aged 1 - 6 years during the time period before and after introducing lead free gasoline in Shanghai 1997 and 1999.</p><p><b>METHODS</b>Blood lead levels of 1 969 children aged 1 - 6 years were determined by a sampling survey in five districts of Shanghai in August and September, 1997. Blood lead levels of the same population were re-determined by the same method from April to June in 1998 and from August to September in 1999. Filter paper blood lead test was carried out monthly using the filter paper blood lead proficiency testing program of Centers for Disease Control in the United States. The results from blood lead samples were under acceptable ranges during the study.</p><p><b>RESULTS</b>The geometric means of blood lead levels were 83 microgram/L in 1997, 80 microgram/L in 1998 and 76 microgram/L in 1999, respectively. The prevalence rates of childhood lead poisoning (blood lead level was equal or more than 100 microgram/L) were 37.8% in 1997, 25.7% in 1998 and 24.8% in 1999. The amounts of decrease on average blood lead levels in the five districts between 1997 and 1999 were 10 microgram/L, 11 microgram/L, 6 microgram/L, 4 microgram/L and 2 microgram/L, respectively.</p><p><b>CONCLUSION</b>Lead poisoning is a preventable disease. The average levels of lead in young children in Shanghai decreased significantly after the introduction of lead free gasoline to Shanghai. Lead emissions from vehicles running on leaded gasoline was one of the important contributors to increase the children's blood lead levels in Shanghai. Lead poisoning is not evenly distributed among children in Shanghai, resulting in the different levels of decline.</p>

Neonatal screening for congenital adrenal hyperplasia in Shanghai areas / 中华预防医学杂志

<p><b>OBJECTIVE</b>To investigate the incidence of congenital adrenal hyperplasia (CAH) in Shanghai areas by a neonatal screening program.</p><p><b>METHODS</b>Heel prick blood samples were collected from 50 600 newborns in 50 maternal and child health care hospitals and maternity hospitals 72 hours after their birth and adsorbed onto standard filter paper for determining 17-hydroxyprogesterone (17-OHP) by enzyme linked-immunosorbent assay (ELISA).</p><p><b>RESULTS</b>Level of 17-OHP was significantly increased in eight cases of the 50 600 newborns, three cases of whom with established CAH with hyponatremia, hyperkalemia and hypertestosteronemia duo to 21-hydroxylase deficiency, and other five cases with high level 17-OHP due to preterm delivery.</p><p><b>CONCLUSIONS</b>Determining 17-OHP level on dried blood spotted filter paper is a reliable and practical approach for CAH mass screening in neonates. The incidence of CAH in Shanghai areas was 5.93 per 100 000 newborns (3/50 600).</p>

STUDY ON DETERMINATION OF CARNITINE IN SERUM BY HPLC / 营养学报

Objective: To develop a method for determination of carnitine in serum using HPLC. Methods: The serum proteins were precipitated by acetonitrile and methanol. The organic extract was added derivatizing reagent and the solution was warmed to 60℃ for 2 hours. Atlantis C18 column (4.6 mm?150 mm,5?m)was used as stationary phase and methanol-ispropand-acetonitrile (35∶45∶20,v/v) as mobile phase; flow rate 1.0ml/min, UV wavelengh at 260nm. Results: The typical chromatogram from serum samples showed clear separation of carnitine. Y= 8490X-48200, r= 0.9999. Intra-day RSD was 1.6%-13.2%, and inter-day 1.8%-12.1%. The recovery rate was 98.5%. Conclusion: A method for determination of carnitine in serum using HPLC by adding derivatizing reagent was developed and it is simple, rapid and precise, and can be used for clinical test.