Table of Content

15 December 2018 Volume 36 Issue 12

  

Application of chromosomal microarray analysis in the diagnosis of congenital multiple malformations

YANG Xiao, PENG Wei, MA Ning, LI Hao, WANG Yan

. 2018, 36(12):  889.  doi:10.3969/j.issn.1000-3606.2018.12.001

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　Objective　To explore the value of chromosome microarray analysis (CMA) in genetic-etiological diagnosis of congenital multiple malformations in neonates. Method　Chromosome G-banding karyotype analysis and CMA analysis were performed in 100 children. Results　The most common clinical manifestations of 100 children were cardiovascular malformation combined with other system deformities, accounting for 69%. G-banding karyotype analysis showed that 21 children (21%) had chromosomal abnormalities, Among whom there were 9 children with numerical abnormality of autosomal chromosomes, 2 with numerical abnormality of sex chromosomes and 10 with structural abnormality of autosomal chromosomes. Gene copy number variations (CNVs) were performed by CMA analysis in 79 children with normal chromosome karyotype. Seven cases were found to have CNVs, including 4 cases of pathogenic CNVs, 2 cases of uncertain CNVs and one case of clinically unknown CNVs. Conclusion　CMA has the advantages of high resolution and wide coverage. It can find the deletion and repetition from the submicrostructures, so as to diagnose the genetic etiology of congenital multiple malformations in neonates.

Clinical pedigree analysis of pseudohypoparathyroidism with the first symptom being congenital hypothyroidism

LYU Juan, ZHANG Liqin, DU Wei, LU Weibing, XING Quansheng

. 2018, 36(12):  894.  doi:10.3969/j.issn.1000-3606.2018.12.002

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　Objective　To explore the pathogenesis, clinical characteristics and treatment of pseudohypoparathyroidism (PHP) Ia. Method　The clinical and genetic data of PHP Ia in a child and her family members were retrospectively analyzed. Results　The child had congenital hypothyroidism as first symptom, and then gradually had Albright hereditary osteodystrophy (AHO), low calcium, high phosphorus and resistance to parathyroid hormone. After treatment with calcitriol and calcium, blood calcium and phosphorus were close to normal, but there was no significant change in AHO malformation. Conclusion　PHP combined with congenital hypothyroidism is rare.

Clinical characteristics and NEB gene mutation analysis of nemaline myopathy in 2 children

TANG Jiapeng, ZHAO Guozhu

. 2018, 36(12):  898.  doi:10.3969/j.issn.1000-3606.2018.12.003

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Objective　To explore the clinical and genetic characteristics of nemaline myopathy induced by NEB gene mutation. Method　The clinical data of suspected nemaline myopathy patients and their family members in two families and results of gene sequencing using targeted gene capture second-generation sequencing were retrospective analyzed. Results　The age at onset of proband in both families was around 2 years old. They went to see a doctor because of lower limb muscle weakness and unstable walking. The children had low muscle tension with grade IV limb muscle strength. The electromyography showed no myogenic damage. Serum creatine kinase (CK) level was slightly elevated. Complex heterozygous mutations of c.2227C>T and c.16972G>T in NEB gene which were inherited from parents respectively, were found in one patient by gene testing, and the elder brother was a carrier of c.5971C>T heterozygous mutation. In the other patient, there were complex heterozygous mutations of c.6388G> c and c.17044A>T in the NEB gene which were inherited from the parents respectively. Most of their family members were carriers. Conclusion In patients with myasthenia and hypotonia clinicians should be alert to the possibility of congenital nemaline myopathy. Gene testing is helpful for diagnosis. Both c.5971C>T and c.17044A>T in NEB gene are newly discovered mutation site.

Gene mutation in a family with congenital hypothyroidism and low thyroglobulin

ZHANG Guiping, LI Lei, SHU Xiaomei

. 2018, 36(12):  901.  doi:10.3969/j.issn.1000-3606.2018.12.004

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Objective　To explore the characteristics of TG gene mutation in a family with congenital hypothyroidism (CH) and low thyroglobulin (TG) and further to analyze the relationship between genotype and clinical phenotype. Method　The genomic DNA was extracted for TG gene detection from peripheral blood of two siblings in a CH family with low TG. Results Two heterozygous variations, c.274+2T>G and c.2512C>T, were found in TG gene of their father and mother, respectively. Both of the two mutations above were found in the TG gene of two siblings and are compound heterozygous mutations. The c.2512C>T was a newly discovered mutation site, and the pathogenicity has not been reported in the literature. Conclusion　Mutations in the TG gene cause changes in protein function leading to CH. The study found a new TG gene mutation site.

NGLY1 gene mutation causes congenital disorder of glycosylation type IV: a family report

LI Zhi, LIU Fang

. 2018, 36(12):  904.  doi:10.3969/j.issn.1000-3606.2018.12.005

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Objective　To explore the clinical characteristics, diagnosis and treatment of congenital disorder of glycosylation type Ⅳ (CDG-Ⅳ) caused by NGLY1 gene mutation. Method　The clinical data and gene test results of two sisters with CDG-Ⅳ in the same family were reviewed, and the literatures were reviewed. Results　The proband was an 8-month-old girl whose clinical manifestations were psychomotor retardation, hypohidrosis, less tear, poor catacleisis, small hands and feet, and so on. Prenatal screening for Down syndrome at 6 months of gestational age indicated high risk, and no abnormalities were found in amniocentesis. Fetal ultrasonography indicated intrauterine growth retardation. The proband had a 4-year-old sister, and their clinical manifestations and growth history were similar. Their parents were not consanguineous, and the phenotype was normal. The karyotype analysis and chromosome microdeletion analysis of the proband were normal. NGLY1 gene mutation was found in proband and all other members of the family by whole exon gene sequencing. The proband’s elder sister had the same NGLY1 gene mutation originating from the father’s frameshift mutation (which could cause changes in the amino acid p.S546Ffs*12) and the mother's point mutation. NGLY1 gene has been reported to be associated with CDG-Ⅳin foreign literatures. The same NGLY1 gene mutation (point mutation at 1003+3 site and frameshift mutation at 1637 site) was not retrieved in current China National Knowledge Infrastructure (CNKI), Wanfang, PubMed and Clinvar databases, suggesting that it may be a new mutation. Conclusion　In this case, the proband and her elder sister's NGLY1 gene mutations were derived from their parents. The NGLY1 gene mutation can cause CDG-Ⅳ, and its clinical phenotype is consistent with the literature.

Chromosome 1p32-p31 deletion syndrome: a case report and literature review

WAN Ruiping, ZHU Xiaodan, ZHANG Meibo, WU Yanling, HUANG Xiaofei

. 2018, 36(12):  908.  doi:10.3969/j.issn.1000-3606.2018.12.006

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　Objective　To explore the clinical features of chromosome 1p32-p31 deletion syndrome. Method　The clinical data of chromosome 1p32-p31 deletion syndrome in a child were retrospectively analyzed, and related literature was reviewed. Results　A 6-month-old boy with gestational age of 39+2 weeks and birth weight of 2.2 kg, suffered from mild asphyxia at birth and development retardation after birth. The child had special facial features including prominent forehead and occiput, telecanthus, narrow palpebral fissures, low set ears, laigh nose bridge, small nose, thin lip, small chin and high palate. Furthermore, he had right undescended testis, hydrocele of left testis, short fingers and toes, and slightly lower muscle tension of the limbs. Gesell development scale demonstrated that the child had moderate global developmental delay with a full scale score of 46. The Brain MRI showed less white matter, widened bilateral lateral ventricles, and the slender posterior part of the corpus callosum. EEG displayed slightly slower background rhythm than that of health children with the same age. Brainstem auditory evoked potentials showed response threshold of 65 dB in left ear and 40 dB in right ear. High-throughput DNA sequencing revealed an 11.84 Mb deletion in the 1p32.3-p31.3 region (chr1:54560001-66400000, hg19), containing multiple genes including the NFIA gene. Conclusion　Clinical features of chromosome 1p32-p31 deletion syndrome include hypoplastic corpus callosum, ventriculomegaly or hydrocephalus, macrocephaly, facial dysmorphisms, different degrees of developmental retardation, and some have urinary system abnormalities. The NFIA gene is a key gene responsible for the disease.

Familial dilated cardiomyopathy caused by new missense mutation of RBM20 gene in children: a case report

　PENG Chang, XU Heping, WANG Shiyuan

. 2018, 36(12):  912.  doi:10.3969/j.issn.1000-3606.2018.12.007

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Objective　To explore the clinical and gene characteristics of dilated cardiomyopathy in children. Method　The clinical data and gene test results of dilated cardiomyopathy in a child were analyzed and the relevant literatures were reviewed. Results　There was an 11-year-old male patient who had shortness of breath and palpitation after exercise. Color Doppler echocardiography showed enlarged left ventricle and left atrium, with left ventricular ejection fraction at 35% and left ventricular shortening fraction at 20%. The results of genetic testing found heterozygous mutations, c.2264G > A, p.Arg755His in exon 9 and c.3014A > G, p.Asp1005Gly in exon 11 of RBM20 gene in both child and mother. They were missing mutations and had not been reported before. Conclusion　The diagnosis of familial dilated cardiomyopathy in children is mainly based on clinical and genetic testing.

Clinical and genetic analysis of neonatal chronic granulomatosis in one case

　SHEN Jun, XIONG Yumei, PENG Qiuyan, LIU Guangming, GONG Yun, WU Jinxia, YANG Haomei, LU Jiaming, LI Peiqing

. 2018, 36(12):  916.  doi:10.3969/j.issn.1000-3606.2018.12.008

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　Objective　To explore the clinical features and diagnosis of neonatal chronic granulomatous disease (CGD). Method　The clinical data of CGD in a newborn was retrospectively analyzed. Results　The onset of the disease was in the neonatal period. In addition to the repeated fever, clinical symptoms and positive signs were not obvious. However, there was a history of small pustular rash after vaccination. Respiratory burst function test of neutrophils showed that the stimulation index (SI) was significantly decreased, the aspergillus antigen was positive, and the tuberculosis antibody, PPD test and T-SPOT were all negative. Multiple nodules were visible in CT images of the lung. Anti-infective and symptomatic treatments were not effective, and macrophage activation appeared in the later stage, and the patient died soon after discharge. CYBB gene analysis revealed a hemizygous mutation, c.845_855del (deletion), resulting in amino acid changes of p.E283Afs*61 (frameshift mutation). The mutation is a spontaneous mutation, which does not belong to polymorphisms and happens with very low frequency in the population. Conclusion　CGD should be highly suspected in patients with neonatal onset, reaction or skin infection after vaccination, recurrent fever, decreased SI detected by neutrophil respiratory burst function, and multiple nodules characterized by lung CT imaging. CYBB gene mutation is the common cause of CGD.

Five-year follow-up of precocious pseudopuberty due to functional autonomous ovarian cysts treated with laparoscopic follicular puncture plus letrozole

　WANG Yu, LI Xiaodong, LI Yanfei, HE Xiaojing, LIU Jie

. 2018, 36(12):  920.  doi:10.3969/j.issn.1000-3606.2018.12.009

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Objective　To investigate the feasibility of laparoscopic follicular puncture plus letrozole in the treatment of precocious pseudopuberty caused by functional autonomous ovarian cysts with a significantly higher estrogen level. Method The clinical data of functional autonomic ovarian cysts combined with precocious pseudopuberty in a child were retrospective analyzed. Results　A 3.5-year-old girl suffered from early breast development and intermittent small amount of vaginal bleeding for one year. Her bone age and height were significantly higher than those of normal children of the same age and gender, and estrogen level was continuously increased. In order to clarify the etiology and reduce the estrogen level rapidly, laparoscopic exploration was performed. During the operation, the pathological results of the ovary showed fibrous cyst wall with a few granular cells lining. Then follicle puncture was performed because multiple follicular cysts of the ovary were considered. The estrogen level decreased rapidly after operation. The estrogen E2 level was 121 pg/mL 20 days after the operation and letrozole was given orally at 1.25 mg/d. During the 50-month follow-up, the estrogen level fluctuated between 6~51 pg/mL, and the growth rate of height gradually returned to normal level, with delayed bone age development and normal function of liver and kidney. Conclusion　Laparoscopic follicular puncture plus letrozole is an alternative method for the treatment of precocious pseudopuberty caused by functional ovarian cysts with a significantly higher estrogen level.

Neurofibromatosis type 1 complicated with clitoral hypertrophy: a case report

　ZHANG Zhigang, YE Bin, YU Yongguo, LI Xing, FANG Danfeng

. 2018, 36(12):  924.  doi:10.3969/j.issn.1000-3606.2018.12.010

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　Objective　To explore the clinical manifestations, diagnosis and treatment of neurofibromatosis type 1 (NF1). Method　The clinical data of NF1 diagnosed by high throughput sequencing in a child were retrospectively analyzed and the related literature were reviewed. Results　A female child was found milk coffee spots and clitoris hypertrophy immediately after birth. NF1 gene test showed C, 655-7-655-2del TTTATA, which was a new pathogenic mutation. Conclusion　NF1 combined with genital abnormalities is rare in clinic. Early diagnosis of NF is difficult, and suspected cases should be diagnosed as early as possible by genetic testing.

Correlation between the vascular endothelin-1 gene polymorphism and vasovagal syncope in children

　CHEN Tingting, HUANG Yujuan, ZHANG Guoqin, WANG Jianyi, YAN Jingbin, XU Meng, HUANG Min

. 2018, 36(12):  927.  doi:10.3969/j.issn.1000-3606.2018.12.011

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Objective　To explore the relationship between endothelin-1 (ET-1) +138A/- gene polymorphism and vasovagal syncope (VVS) in children. Method　The head-up tilt test (HUT) was performed in children with unexplained syncope. Eighty HUT-positive and VVS-diagnosed patients were assigned to the VVS group, and were further divided into three clinical subgroups: mixed-response type, cardioinhibitory-response type and vasodepressor-response type. Eighty HUT negative patients were assigned to the HUT-negative group. Another 80 healthy children were selected as normal control group. The clinical characteristics of children in VVS group and HUT-negative group were collected and venous blood samples were taken from all participants in three groups. ET-1+138A/- gene polymorphism was detected by high-resolution melting curve and polymerase chain reaction sequencing. The genotype and allele frequency were analyzed and compared between different groups and VVS subgroups. Results　Compared with HUT negative group, the proportion of girls in VVS group was higher, and there was statistical difference (P<0.05). There was no difference in the distribution of +138A/- genotypes (3A3A, 3A4A, 4A4A) and allele (3A, 4A) frequencies among normal control group, HUT negative group and VVS group (P>0.05). There were statistically differences in the distribution of +138A/- genotypes and allele frequencies among the clinical subgroups of VVS (mixed-response type, cardioinhibitory-response type and vasodepressor-response type) (P<0.05). The frequencies of 3A4A genotypes and 4A alleles in vasodepressor-response type subgroup were higher than those in other clinical subgroups (P<0.05). Conclusion　ET1+138A/- gene polymorphism was not found to be associated with VVS in children, but the frequencies of 3A4A genotype and 4A allele were higher in vasodepressor-response type, suggesting that this gene locus may be involved in the regulation of blood pressure during VVS attack.

Clinical manifestation of pediatric patients with congenital unilateral agenesis or absence of pulmonal artery

XIAO Yunbin, ZENG Yunhong, WANG Yefeng, YANG Zhou, ZUO Chao, CHEN Zhi

. 2018, 36(12):  932.  doi:10.3969/j.issn.1000-3606.2018.12.012

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　Objective The objectives of this study are to investigate the clinical characteristics and improve the diagnosis of pediatric patients with congenital unilateral agenesis or absence of pulmonal artery. Methods Cases of pediatric patients with congenital unilateral agenesis or absence of a pulmonal arterywho had been diagnosed at our hospital from 2008 to 2018 were analyzed. Results In all, five patients (3 male; age range, 0.58-13 years) with congenital unilateral agenesis or absence of pulmonal artery were diagnosed and treated in our institution.The most common clinical presentation are recurrent pulmonary infections, hemoptysis and pulmonary artery hypertension. The chest X-ray was indicative in the regular clinical examinations though it was of no value in the diagnosis. Echocardiography could demonstrate associated intracardiac defects and pulmonary artery hypertension. The catheterization and chest computed tomography scan could show distinctly the conditions of pulmonary arteries. Conclusion The common clinical manifestation of pediatric patients with congenital unilateral agenesis or absence of pulmonal artery arerecurrent pulmonary infections, pulmonary hypertension and hemoptysis. The chest X-ray and echocardiography indicate diagnosis, contrast enhanced chest computed tomography or angiography could confirm diagnosis.

Comparative study of urinary tract infection caused by Escherichia coli and Enterococcus

　GU Songlei, SHEN Tong, YANG Xiaoqing

. 2018, 36(12):  936.  doi:10.3969/j.issn.1000-3606.2018.12.013

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　Objective　To explore the clinical characteristics of Escherichia coli and Enterococcus infection in urinary tract in children. Method 　The clinical data of 117 cases of urinary tract infection with positive urine culture between 2013 and 2014 were retrospectively analyzed. Results　Among 117 children with positive urine culture, there were 55 (47%) cases of Escherichia coli and 28 (23.93%) cases of Enterococcus. The percentage of children having significant clinical manifestations in Escherichia coli group was significantly higher than that in Enterococcus group (67.27% vs 42.86%, P<0.05). Compared with Escherichia coli group, Enterococcus group had longer duration of increased urinary leucocyte count, longer hospital stay, higher drug resistance rate of urine culture and higher proportion of urinary tract malformation, and the differences were statistically significant (P<0.05). Conclusion　Escherichia coli are the most common pathogenic bacteria of urinary tract infection in children, followed by Enterococcus. Enterococcus infection is seen more in children with malformation, its clinical symptoms are atypical and it is prone to drug resistance.

Clinical analysis of congenital dumbbell neuroblastoma in three children

　JIN Huiming, WU Zhixiang

. 2018, 36(12):  939.  doi:10.3969/j.issn.1000-3606.2018.12.014

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Objective　To explore the treatment of congenital dumbbell neuroblastoma (NB). Method　The clinical data of 3 congenital dumbbell NB patients presenting with postnatal lower extremity paralysis from April 1990 to May 2014 were retrospectively analyzed. Results　All 3 children were male and the age at admission was 14-53 days. Vertebral laminectomy for decompression and extradural intra-vertebral canal tumor resection were performed in all patients. Then they were confirmed to have NB by pathological examination and had no chemotherapy or radiotherapy after operation. Case 1 underwent retroperitoneal NB transabdominal resection and died 8 months later after the surgery due to hepatic metastasis. In case 2, the parents abandoned any treatment after vertebral laminectomy and was found that the rest of the tumor was regressed spontaneously at five years follow-up. In case 3, there was no amplification of N-myc gene after the surgery, and the retroperitoneal neuroblastoma showed spontaneous regression after 14 months. Conclusions　Vertebral laminectomy for decompression and extradural intra-vertebral canal tumor resection is one of the treatment options for congenital dumbbell NB. For retroperitoneal NB patients without N-myc gene amplification, resection and chemotherapy are not required, but regular follow-up may be scheduled.

Clinically isolated syndrome causes visual and hearing impairment in children: a case report

YU Jun, ZHENG Yan, KANG Xiaoli

. 2018, 36(12):  942.  doi:10.3969/j.issn.1000-3606.2018.12.015

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Objective　To explore the clinical characteristics of clinically isolated syndrome (CIS). Method　The clinical data of visual and hearing impairment caused by CIS in a child were retrospectively analyzed. Results　A boy aged 5 years and 7 months visited the clinic due to poor eyesight and no abnormality was found in physical examination. His visual acuity of the right eye was 0.15, and the left eye was 0.15. Visual evoked potential showed delayed P100 peak and decreased amplitude in both right and left eyes. Brainstem auditory evoked potential and Distortion Product Otoacoustic Emissions (DPOAE) testing indicated that all the frequencies did not pass in the right ear; the frequencies except 4 kHz and 8 kHz did not pass in the left ear. TEOAE showed no frequencies passed in two ears. Neither electroencephalogram nor intelligence test (WPPSI) was abnormal. MRI examination of head and orbit suggested demyelination. These findings are consistent with the CIS diagnostic criteria for "A focal or multifocal clinical central nervous system event presumably associated with inflammatory demyelination". Conclusion　CIS can cause visual and hearing impairments.

Diagnostic value of urinary interleukin 18 in children with acute kidney injury: a meta-analysis　

　ZHANG Jianjiang, YING Daojing, DOU Wenjie, SHI Peipei, TIAN Xiyan, JIA Limin, ZHANG Huating

. 2018, 36(12):  944.  doi:10.3969/j.issn.1000-3606.2018.12.016

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Objective　To explore the value of urinary interleukin 18 (IL-18) in the early diagnosis of acute kidney injury (AKI) in children. Method　Medline, EMBASE, Cochrane Library, PubMed, Web of Science, Google Scholar, China National Knowledge Infrastructure, VIP and WanFang Database were searched and retrieved. The literature of urinary IL-18 for the diagnosis of AKI in children were obtained from inception to March 2018. Quality Assessment of Diagnostic Accuracy Studies-2 (QUADAS-2) was used to evaluate the quality of included literature. Meta-Disc 1.4 and STATA 12.0 software were used to analyze the data. Results　A total of 9 studies were included, including 1214 children. Across all settings, the pooled sensitivity, specificity, positive likelihood ratio, negative likelihood ratio and diagnostic odds ratio for urinary IL-18 level to predict AKI were 0.74 (95%CI: 0.69~0.79), 0.66 (95%CI: 0.63~0.69), 2.30 (95%CI: 1.80~2.92), 0.42 (95%CI:0.31~0.56) and 6.50(95%CI: 4.20~10.07), respectively, and the area under the summary receiver operating characteristic curve was 0.779 (S.E.=0.025). Conclusion　Urinary IL-18 is a valuable biomarker for the early prediction of childhood AKI with moderate diagnostic accuracy.

Progress in diagnosis and treatment of myeloid sarcoma in children

CHEN Jiao, LU Aidong

. 2018, 36(12):  950.  doi:10.3969/j.issn.1000-3606.2018.12.017

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Myeloid sarcoma (MS), also known as granulocyte sarcoma, is a malignant extramedullary tumor composed of immature myeloid cells. MS can occur de novo, but more commonly occurs in patients with acute myeloid leukemia, myeloproliferative disorder, and myelodysplastic syndrome, or in the acute phase of chronic myeloid leukemia, or as a manifestation of disease relapse. MS can occur in any part of the body, causing different clinical manifestations. The more frequent sites in children are skin and orbit. The diagnosis of MS relies on the combination of clinical manifestation, radiology, histology, immunohistochemistry, cytogenetic and molecular genetic analyses. After diagnosis, systemic chemotherapy is recommended as early as possible. Surgical resection and radiotherapy can relieve obstructive or compressive symptoms caused by tumors in specific sites. The prognosis of MS depends mainly on its subtype and genetic abnormalities. This article reviews the pathogenesis of MS, clinical characteristics, diagnostic and therapeutic strategies and prognosis of MS in children.

Overview of researches on the life quality in epilepsy children

ZHANG Huimin

. 2018, 36(12):  954.  doi:10.3969/j.issn.1000-3606.2018.12.018

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Epilepsy is a chronic disease of the nervous system caused by abnormal neuronal function in the brain. It mainly occurs in children and adolescents and has certain heredity. Because epilepsy itself breaks the normal brain electrophysiology of neurons and produces repetitive and cumulative damage to the cerebral cortex, children's cognitive function, mental psychology, social behavior, sleep and so on are seriously affected, leading to the threat to their later life quality and even disturbance to their life and development in adulthood. With the in-depth study of epilepsy, the treatment of epilepsy is no longer limited to controlling seizures, and the quality of life of children and their families has become equally important. How to improve the quality of life in epilepsy children has become a part of clinical evaluation by specialist clinicians. This article reviews the research on the life quality of epileptic children.

Research progress in genes associated with congenital hypothyroidism

LU Xiaoxiao

. 2018, 36(12):  958.  doi:10.3969/j.issn.1000-3606.2018.12.019

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　Congenital hypothyroidism (CH) refers to abnormalities in the occurrence, development and functional metabolism of hypothalamus-pituitary-thyroid axis during embryonic period due to some causes, resulting in a decrease in thyroid hormone levels in the blood circulation of children. Without timely diagnosis and treatment, the growth and development of children will be seriously affected. In recent years, gene detection has been gradually applied to the clinic, and the discovery of disease-causing genes will be beneficial for early diagnosis or pre-symptomatic diagnosis of CH and prenatal diagnosis. The article describes the research progress in related gene mutations causing CH from both syndromic and nonsyndromic aspects.