Next generation sequencing of RB1gene for the molecular diagnosis of ethnic minority with retinoblastoma in Yunnan.

BACKGROUND: Retinoblastoma is a rare intraocular malignancy and typically initiated by inactivating biallelic mutations of RB1 gene. Each year, ~ 8000 children worldwide are diagnosed for retinoblastoma. In high-income countries, patient survival is over 95% while low-income countries is ~ 30%.If disease is diagnosed early and treated in centers specializing in retinoblastoma, the survival might exceed 95% and many eyes could be safely treated and support a lifetime of good vision. In China, approximate 1100 newly diagnosed cases are expected annually and 28 hospitals covering 25 provinces established centers classified by expertise and resources for better treatment options and follow-up. Comparing with other province of eastern China, Yunnan province is remote geographically. This might result that healthcare staff have low awareness of the role of genetic testing in management and screening in families. METHODS: The patients with retinoblastoma were selected in Yunnan. DNA from blood was used for targeted gene sequencing. Then, an in-house bioinformatics pipeline was done to detect both single nucleotide variants and small insertions/deletions. The pathogenic mutations were identified and further confirmed by conventional methods and cosegregation in families. RESULTS: Using our approach, targeted next generation sequencing was used to detect the mutation of these 12 probands. Bioinformatic predictions showed that nine mutations were found in our study and four were novel pathogenic variants in these nine mutations. CONCLUSIONS: It's the first report to describe RB1 mutations in Yunnan children with retinoblastoma. This study would improve role of genetic testing for management and family screening.

Novel insight into MALAT-1 in cancer: Therapeutic targets and clinical applications.

Long non-protein-coding RNAs (lncRNAs) are emerging as important gene expression regulators that are linked to various biological processes at the post-transcriptional and transcriptional levels. lncRNAs are known to be important in cell proliferation, cell differentiation, apoptosis and metastasis. Metastasis-associated lung adenocarcinoma transcript 1 (MALAT-1), a novel lncRNA, is highly conserved amongst mammals. In addition, it has been considered to act as an oncogene, depending on the tumor system. An increasing number of studies have indicated that MALAT-1 may be detected in certain types of human tumors, including lung and bladder cancer and hepatocellular carcinoma. MALAT-1 silencing may be an effective therapeutic approach against tumors. The present study reviews the current knowledge on the functional role of MALAT-1 in the control of various cancers.

Applicability of a filter paper method to measure blood lead levels in large populations of Chinese children.

BACKGROUND: Capillary filter paper can be useful for screening blood lead concentrations in large populations of geographically dispersed Chinese children. METHODS: A total of 159 at 0-6 years of age were enrolled in the study when they came for routine pediatric care. Paired venous and capillary filter paper samples were collected from all subjects. Graphite furnace atomic absorption spectrophotometry was used to measure blood lead concentrations. Comparability of the lead assay methods was assessed. The concordance coefficient between these two methods was 0.87 (p < 0.01). The values of blood lead concentrations measured by the different methods were comparable statistically. The sensitivity of the filter paper method was 85%, 73% and 75%; specificity was 92%, 99% and 100%; the positive predictive value was 86%, 89% and 100%, and negative predictive value was 91%, 98% and 99% at cut-offs of 10, 15 and 20 microg/dl, respectively. The Youden's index was 77, 71 and 75 at those cut-offs. Values obtained via the filter paper method appeared to be relatively stable up to 4 weeks post-collection. CONCLUSIONS: The filter paper method for lead determinations has a sufficiently high sensitivity and specificity and correlates well with venous sampling. The ease with which this technique can be performed and screened samples can be sent to a centralized laboratory by regular mail indicates that it is a promising and attractive reference method, particularly in large populations of widely dispersed young children in China and other countries.

The trends of changes in children's blood lead levels since the introduction of lead free gasoline in Shanghai.

OBJECTIVE: 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. METHODS: 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. RESULTS: 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. CONCLUSION: 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.

[Sleep time of children from 1 month to 5 years of age in Shanghai, an epidemiological study].

OBJECTIVE: To assess the age specific sleep time among children 1 month to 5 years of age in Shanghai, China, and to identify the related factors. METHODS: A questionnaire survey was conducted among the parents of 3 266 children 1 month to 5 years of age, randomly selected in five urban districts of Shanghai in August and September of 1999 and 2000, with a response rate of 97.83%. RESULTS: The total sleep time among children less than 48 months of age in Shanghai was less than that among children the same age in Western countries. The factors related to children's inadequacy of total time included parental insufficient sleep time, children's difficult temperament parental presence at sleep onset of children, and cosleeping. CONCLUSIONS: The total sleep time among children at tender age in Shanghai is on the low side. The main influencing factor of insufficiency of sleep time among children is the family environmental factor, especially parental improper response to children's sleep behaviors.