1.The clinical characteristics and molecular genetics of infantile neuroaxonal dystrophy: The current research progress
Shimeng CHEN ; Juan XIONG ; Xiaolu DENG ; Nan PANG ; Xiaole WANG ; Wen ZHANG ; Fei YIN
Journal of Chinese Physician 2017;19(8):1121-1124
Infantile neuroaxonal dystrophy (INAD) is a rare autosome-recessive disease characterized by progressive motor and cognitive regression.The PLA2G6 gene is its causative gene,which encodes calcium-independent phospholipase A2 enzyme (iPLA2-VIA).The diagnosis of INAD is difficult because of its clinical heterogeneity,and the rate of misdiagnosis is high.The purpose of this study is to describe the clinical characteristics,molecular genetics,treatment and prognosis of INAD to improve the acknowledgement of INAD in medical workers and to help make an early diagnosis of INAD.
2.Effect of potassium iodate on the cell cycle of human thyroid cancer cells
Hong LI ; yue Jia ZHANG ; ming Song LI ; li Jin LENG ; Rui LI ; Hui HE ; xiong Fei PANG
Basic & Clinical Medicine 2017;37(12):1724-1728
Objective To explore the effects of potassium iodate (KIO3) on the proliferation, cell cycle, and the mRNA/protein levels of cyclin D 1 and Ki67 of SW579 cells, a human thyroid squamous carcinoma cell line . Methods The effects of different doses of KIO3(0,10-6,10-5,10-4,10-3,10-2,10-1 mol/L)on SW579 cell prolifer-ation were assessed by CCK8 method.SW579 cells were then treated with 0 (control), 10-6 or 10-2 mol/L KIO3 for 48 h.The cell cycle was measured by flow cytometry .The mRNA and protein levels of cyclinD 1 and Ki67 were re-spectivelyanalyzedbyreal-timePCRandWesternblot.Results 10-6and10-2mol/LofKIO3respectivelyexhibi-ted the most promoting and suppressive effect on SW579 cell proliferation.G1 phase of cells in 10-6 group short-ened significantly( P<0.05) , and S phase prolonged significantly( P<0.05); while each phase of cells in 10-2 mol/L group changed in the opposite way( P<0.05) .KIO3 at the dose of 10-6 mol/L significantly up-regulated the mRNA levels of cyclin D1 and ki67 in cells( P<0.05) ;whereas, the mRNA and protein levels of cyclin D1 and Ki67 were significantly down-regulated in cells treated with 10-2 mol/L KIO3( P<0.05) .Conclusions Different doses of KIO3 affect the proliferation and cell cycle of SW579 cells probably by regulating the levels of cyclin D1and Ki67 .
3. A family with Allan-Herndon-Dudley syndrome due to SLC16A2 gene mutation
Yulin TANG ; Jing PENG ; Juan XIONG ; Nan PANG ; Liwen WU ; Haiyan YANG ; Miriam KESSI ; Fei YIN
Chinese Journal of Pediatrics 2018;56(11):829-834
Objective:
To report a family diagnosed with Allan-Herndon-Dudley syndrome (AHDS) due to SLC16A2 gene mutation and to summarize the phenotypes, genotypes, diagnosis, treatment, and prognosis.
Methods:
The clinical features of a family of AHDS diagnosed in Xiangya Hospital of Central South University in November 2017 were analyzed. Related literature was searched at Online Mendelian Inheritance in Man (OMIM), PubMed, CNKI and Wanfang database (from the establishment of databases to June 2018) by using "Allan-Herndon-Dudley syndrome" , and "AHDS" as keywords and the case reports from April 2013 to June 2018 were reviewed.
Results:
The proband was a boy aged 8 months who presented with global developmental retardation, inability to hold up the head, disability to sit independently or grab, no language development, elongated face, big ears, esotropia, scoliosis, hypotonia in the trunk, hypertonia in extremities, and hyperreflexia. Brain magnetic resonance imaging (MRI) showed widening of the extracerebral space and delayed myelination. Thyroid function tests revealed increased FT3, decreased FT4 and normal TSH. Whole exome sequencing (WES) revealed the SLC16A2 gene c.431-1 (IVS1) G>C hemizygous mutation. The infant's mother and grandmother are carriers, but whose father had no related mutation. One uncle from maternal side had severe psychomotor retardation as well as dystonia and died at one year of age with unknown etiology. A total of 97 articles were retrieved in which 19 case reports were reviewed. Forty-two cases (22 from 8 families and 20 sporadic) were reported. Among these 42 cases (all males), all of them presented with moderate to severe cognitive dysfunction, 15 with seizures; 36 were bedridden, only 4 could walk; 31 had no language development, 2 could speak sentences, 4 could speak few words, 1 had babbling sounds. Furthermore,16 had microcephaly, 18 had facial dysmorphism, 6 had esotropia, 2 had hearing loss,14 had scoliosis, 11 had joint contracture, 30 had low body weight/muscle wasting, 37 had hypotonia in trunk or extremities, 32 had progressive spastic paraplegia or hypertonia. In terms of thyroid function, 33 had abnormal results, within whom 30 had increased T3, 25 had decreased T4 and 3 had increased TSH. Brain MRI showed delayed myelination in 22 cases, within which one normalized with development. Genetic tests showed that 31 had missense mutation (14 sporadic), 5 had deletion mutation (3 sporadic, and 1 due to frameshift mutation), 5 had insertion mutation (2 sporadic), and 1 had repeated mutation. The prognosis was poor as patients often died of recurrent respiratory tract infection.
Conclusions
The main clinical manifestations of AHDS are severe global developmental retardation, hypotonia, spastic paraplegia, abnormal serum levels of thyroid hormone and delayed brain myelination. SLC16A2 c. 431-1 (IVS1) G > C mutation is accountable for this disease.
4. A case of Okur-Chung syndrome caused by CSNK2A1 gene variation and review of literature
Haolin DUAN ; Jing PENG ; Nan PANG ; Shimeng CHEN ; Juan XIONG ; Shiqi GUANG ; Fei YIN
Chinese Journal of Pediatrics 2019;57(5):368-372
Objective:
To summarize the clinical features and gene variation characteristics of a child with Okur-Chung syndrome caused by CSNK2A1 gene variation.
Methods:
The medical records of one patient who was diagnosed with Okur-Chung syndrome in Department of Pediatrics, Xiangya Hospital of Central South University in July 2018 were analyzed. Using "CSNK2A1" gene as the keyword, relevant information about CSNK2A1 gene was searched at CNKI, Wangfang Data, OMIM, PubMed, ClinVar, Decipher (until August 2018). The characteristics of CSNK2A1 gene variation and the clinical phenotype of children with Okur-Chung syndrome were summarized.
Results:
The boy, 1 year and 8 months old, was sent to hospital at the age of 1 year and 6 months because of delayed growth for more than 1 year. He was susceptible to cough while eating or drinking. He was also suffering from constipation and poor sleep. Physical examination showed that his body weight was 10.2 kg, microcephalus, broad nasal bridge, micrognathia and hypotonia were observed. Whole exome-sequencing test identified a
5.Changes of the spectrum on thyroid disease after the ten-year implementation of universal salt iodization in Guangxi Zhuang Autonomous Region.
Jia-yue ZHANG ; Song-ming LI ; Jin-li LENG ; You-jiang CHEN ; Jian PU ; Jin-ming LI ; Fei-xiong PANG ; Yong-hong HUANG ; Jiang NONG ; Yan-zeng CEN ; Hui HE ; Rui LI ; Li-ning WEI ; Hong-yan HE
Chinese Journal of Epidemiology 2013;34(10):970-974
OBJECTIVETo reveal the relationship between iodine nutrition and the change of spectrum on thyroid diseases through comparing the different iodine environments pre- and post- the universal salt iodization(USI)campaign.
METHODSTo compare the urinary iodine concentration between 1000 normal people and 5998 patients with thyroid disease who had undergone surgical operations, from 4 major cities, including iodine deficient and rich areas of Guangxi Zhuang Autonomous Region.
RESULTSAfter USI was put into practice, the urinary iodine concentration of patients with thyroid appeared higher than those of normal people(324.3 µg/L vs. 238.5 µg/L, P < 0.05). The urinary iodine concentrations of nodular goiter,Graves disease, toxic nodular goiter, thyroid papillary carcinoma and Hashimoto's thyroiditis were higher than those before the USI was taken(263.8 µg/L vs. 69.75 µg/L, 289.7 µg/L vs. 228.3 µg/L, 346.8 µg/L vs. 268.4 µg/L, 350.3 µg/L vs. 316.2 µg/L and 378.5 µg/L vs. 305.8 µg/L). The proportions of toxic nodular goiter, thyroid papillary carcinoma and Hashimoto's thyroiditis appeared as 7.59% vs. 4.80%, 5.85% vs. 4.02% and 3.88% vs. 2.46%, all higher than those before the implementation of USI, except the nodular goiter which showed a reduction (63.56% vs. 69.75%).
CONCLUSIONThe spectrum of thyroid diseases appeared an obvious change in Guangxi within the last 10-year implementation of USI. However, the excessive intake of iodine might serve as a risk factor for toxic nodular goiter, thyroid papillary carcinoma and Hashimoto's thyroiditis.
Case-Control Studies ; China ; epidemiology ; Goiter, Endemic ; epidemiology ; Hashimoto Disease ; epidemiology ; Humans ; Iodides ; urine ; Iodine ; adverse effects ; Sodium Chloride, Dietary ; adverse effects ; Thyroid Diseases ; epidemiology