Table of Content

15 December 2015 Volume 33 Issue 12

  

Clinical and genetic analysis of vitamin D-dependent rickets type IA in two Chinese families

LI Yunfei, CHEN Ruimin,YUAN Xin, LIN Xiangquan, YANG Xiaohong, ZHANG Ying

. 2015, 33(12):  1001.  doi:10.3969 j.issn.1000-3606.2015.12.001

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　Objective　To analyze the clinical characteristics and CYP27B1 gene mutation vitamin D-dependent rickets type IA (VDDR-IA) in two Chinese families. Methods　Clinical manifestations, laboratory data, and radiological findings were analyzed in two patients with VDDR-IA. Nine exons and intron-exon boundaries of CYP27B1 gene were amplified by PCR and sequenced. Results　Two female patients (22 and 33 months of age, respectively) had typical manifestations, laboratory, and radiological findings of rickets. Genetic sequencing identified a homozygous mutation in exon 8 of CYP27B1 gene (1319_1325dupCCCACCC). There were more than one person with single heterozygous mutation in two families. Two patients were treated with oral calcitriol and calcium. The condition were stable and continued follow up. Conclusions　It is important to detection c.1319_1325dupCCCACCC homozygous mutation in VDDR-IA patient.

New mutations of COL4A3 gene in an autosomal recessive Alport syndrome pedigree

　YANG Yang, XIAO Jihong

. 2015, 33(12):  1006.  doi:10.3969 j.issn.1000-3606.2015.12.002

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Objective　To explore COL4A3 gene mutation spectrum in autosomal recessive Alport syndrome. Methods The Exon 27 and Exon 48 of COL4A3 gene were sequenced by high-throughput DNA sequencing method in one child with Alport syndrome, her parents, and two sisters. The detected mutations were checked by PCR based Sanger DNA sequencing method. Results　Two heterozygous splicing mutations, c.1928-2A>T in Exon 48 and c.4280G>T (p.G1427V), were found, which could lead to Alport syndrome. Conclusions　New mutations of COL4A3 gene were found, which enriched the mutation spectrum of COL4A3 of Alport syndrome.

Childhood hypokalemic periodic paralysis with CACNA1S gene mutation: report of two cases

　CHEN Xia, ZHENG Rongxiu, KAN Xuan, SHEN Mingqi, SUN Yongmei

. 2015, 33(12):  1009.  doi:10.3969 j.issn.1000-3606.2015.12.003

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　Objective　To study clinical characteristics, diagnosis and treatment of childhood hypokalaemic periodic paralysis. Methods　The clinical data from two cases of childhood hypokalaemic periodic paralysis admitted from August 2014 to October 2014 were retrospectively analyzed. Results　Both patients had the limb weakness at dawn as the onset symptom. The limb weakness was recurrent and got worse progressively, and each attack lasted approximately 2-24 hours. The serum potassium was low during the attack and the serum potassium was normal during the intermission. CACNA1S gene mutation was detected in both patients and their family members. Oral administration of potassium was effective to relieve the symptom. Conclusions For the children with recurrent limb weakness, great attention should be paid to the possibility of hypokalemic periodic paralysis. Genetic tests may be helpful for the diagnosis and treatment.

Three cases of neonatal Wiskott-Aldrich syndrome and literature review

　WEI Qiufen, PAN Xinnian, LI Yan, XU Jing, BI Hongjuan, TAN Wei, JING Lianfang, MENG Danhua

. 2015, 33(12):  1013.  doi:10.3969 j.issn.1000-3606.2015.12.004

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Objective　To investigate the clinical characteristics and genetic diagnosis of neonatal Wiskott-Aldrich syndrome (WAS). Methods　The clinical characteristics of 3 cases of WAS were analyzed. The WASP gene mutations was analyzed by Sanger sequencing method. The related literatures were reviewed to summarize the clinical characteristics, diagnosis, and prognosis of WAS. Results　All three cases of WAS had postnatal thrombocytopenia, accompanying platelet volume decrease. One case suffered from sepsis. Three cases did not suffer from eczema. Three cases were detected WASP homozygotic mutations, 2 cases had WASP nonsense mutations, and one case had WASP missense mutations. Their mothers also had heterozygous mutations at the corresponding loci, and were confirmed as carriers. Conclusions　Neonatal WAS often do not have typical triad, eczema, thrombocytopenia, and immunodeficiency. For neonatal with idiopathic thrombocytopenia, especially with the decrease of platelet volume, the WASP gene analysis should be performed to diagnose WAS.

Preterm extrauterine growth retardation and risk factors

　ZHAN Xingxing, BAO Lei

. 2015, 33(12):  1016.  doi:10.3969 j.issn.1000-3606.2015.12.005

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Objective　To analyze the prevalence and risk factors of extrauterine growth retardation (EUGR) in preterm infants. Methods　The clinical data from 184 preterm infants admitted from August 2014 to December 2014 were retrospectively analyzed. The intrauterine growth retardation (IUGR) and EUGR were evaluated by Fenton premature infants’ growth curve. Results　IUGR was more likely to be developed to EUGR than non-IUGR. At corrected gestational age of 40 weeks and 44 weeks, there were significant differences between EUGR and non-EUGR groups in birth weight, duration of hospitalization, duration of parenteral feeding, the gestational age at which the level of intrauterine growth was restored, the incidence of pregnancy hypertension syndrome of mother, and infant gender (P<0.05). Logistic regression analysis found that the gestational age at which the level of intrauterine growth was restored was the independent risk factor of EUGR in different stages of preterm infants. At corrected gestational age of 40 weeks, birth weight was the independent protective factor of EUGR and IUGR was the risk factor of EUGR. Conclusions　Multiple factors are involved in the development of EUGR in preterm infants. The EUGR in post neonatal are mainly related with perinatal factors, birth weight, and the nutrition during hospitalization.

The relationship of relevant biomarkers of septic acute kidney injury　

ZHANG Hui, YI Zhuwen, XIAO Zhenghui, LU Xiulan

. 2015, 33(12):  1021.  doi:10.3969 j.issn.1000-3606.2015.12.006

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Objectives　To investigate the association of the acute kidney injury (AKI) biomarkers (Cys C, KIM-1, and NGAL) with the diagnosis and prognosis of septic AKI. Methods　Ninety-two children with sepsis from April 1, 2011 to July 31, 2011 were recruited. According to the 48 h serum creatinine level after hospitalization, the children were divided into septic AKI group (32 cases) and septic non-AKI group (60 cases). The Cys C, KIM-1, and NGAL levels were comparatively analyzed to assess their abilities to diagnosis and predict the prognosis of septic AKI. Results　At 2 h after hospitalization, the levels of serum creatinine, serum urea nitrogen, serum Cys C, urine KIM-1, serum NGAL, and urine NGAL were significantly higher in septic AKI group than in septic non-AKI group (P<0.05). At 48 h after hospitalization, except the urine KIM-1, the levels of other biomarkers were still significantly higher in septic AKI group than in septic non-AKI group (P<0.05). On 7 d after hospitalization, except the serum creatinine, the levels of other biomarkers were no significant difference between two groups (P>0.05). The AUCs of serum Cys C, urine KIM-1, serum NGAL, and urine NGAL at 2 h after hospitalization were larger than that of serum creatinine and also larger than each of AUCs at 48 h after hospitalization in the diagnosis of septic AKI. The serum Cys C, urine KIM-1, serum NGAL, and urine NGAL level can be used to predict the prognosis of septic AKI. Conclusions　Cys C, urine KIM-1, serum NGAL, and urine NGAL can be used as early biomarkers to diagnose and to predict the prognosis of AKI. All of biomarkers are positively correlated with serum creatinine level at 48 h hospitalization.

Clinical characteristics and follow-up studies of idiopathic pulmonary hemosiderosis　

　ZHANG Hui, ZOU Xin, ZHOU Gan, CHEN Ming, MENG Qingqing, LIU Ru, TIAN Qinqin, LUO Zhengxiu

. 2015, 33(12):  1027.  doi:10.3969 j.issn.1000-3606.2015.12.007

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Objective　To analyze the clinical characteristics, treatment, and prognosis of idiopathic pulmonary hemosiderosis (IPH). Methods　The study included 43 IPH cases who were hospitalized from January 2006 to January 2014 and followed up for more than 6 months. Their clinical data were retrospectively analyzed. According to the duration of oral prednisone treatment, the patients were divided into different groups and the relapse ratios were compared among groups. Based on the existence of relapse, the patients were divided into two groups to analyze the risk factors of relapse. Results　In 43 cases (24 males, 19 females) the median age of diagnosis was 4.1 years old (1.3-13.5 years). The main clinical manifestations were anemia, cough, hemoptysis, fever, and fatigue. Glucocorticoid can control the acute symptoms of IPH. Among the patients with oral prednisone treatment ≤ 1 year, -2 years, -3 years, and > 3 years group, there were no significant difference of relapse ratio (P>0.05). Long disease course (OR=1.13, 95%CI: 1.03-1.24) and hemoptysis at first visit (OR=9.91, 95%CI: 1.26-78.11) may be the independent risk factors of relapse. The vital capacity (VC), forced vital capacity (FVC), forced expiratory volume in 1s (FEV 1) were negatively correlated with the course of IPH (r=-0.568, -0.597, -0.659 respectively, P<0.001). Conclusions　The manifestations of IPH are varied. Glucocorticoid is effective to control the acute symptoms of IPH. Prolonging the course of glucocorticoid therapy cannot reduce the relapse of IPH. Repeated relapse of IPH can cause restrictive ventilation dysfunction.

Clinical study of desmopressin acetate therapy on primary monosymptomatic nocturnal enuresis in children

　CHU Mei, CAO Li, CHEN Chaoying, CHEN Dakun

. 2015, 33(12):  1031.  doi:10.3969 j.issn.1000-3606.2015.12.008

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Objective　To explore the effect, indication of reduction or discontinuation and side-effects of desmopressin acetate (DA) in treating primary monosymptomatic nocturnal enuresis PMNE in children. Methods　Total 151 PMNE patients aged 5-14 years were recruited. According to convenience sampling method, the patients were divided into DA group (n=91) and control group (n=60). Both groups were treated by behavioral psychotherapy, DA group were further treated by DA. In DA group, the patients who could reduction or discontinuation of DA were divided into gradually withdrawn group (n=32) and directly withdraw group (n=28). The gradually withdrawn group was withdrawn the DA doses step by step in 3 months, and the directly withdrawn group was withdraw the DA doses at once. The recurrence of nocturnal enuresis was recorded within 1 month  after DA withdrawal. Results　In DA group, 91 patients, 61 patients (66.7%) treatment was effective, 21 patients (22.8%) was partial effective. In control group, 60 patients, 5 patients (7.9%) treatment was effective, 17 patients (28.3%) was partial effective. The effective rate was significantly different between two groups (χ2=75.64, P=0.00). In the effective and partial effective patients, 32 cases underwent gradually DA withdrawal, 28 cases underwent directly withdrawal. 17 cases (54.8%) in gradually withdraw group and 24 cases (87.5%) in direct withdraw group were relapsed. The recurrence rate was significantly different between two groups (χ2=7.329, P=0.007). Conclusions　 DA is a safe and effective way to treat PMNE. Gradually withdrawn the DA can decrease the recurrence.

Clinical characteristics and gene mutations of childhood drug-induced liver disease

　DENG Shihua, FU Xi, LIU Yan, HUANG Zhihua

. 2015, 33(12):  1035.  doi:10.3969 j.issn.1000-3606.2015.12.009

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　Objective　To investigate the clinical features, hepatic pathology, and gene mutations of the drug-induced liver disease (DILD) in children. Methods　The clinical manifestations and laboratory results from four children with DILD were retrospectively analyzed. The relevant literatures were reviewed. Results　Four children with DILD all had associated medication history before onset. The courses were 5-90 days. The first symptom was various in common with jaundice, yellow  urine, liver function abnormality, and hepatomegaly. Liver biopsy was performed in 2 patients. The hepatic pathological manifestation mainly showed extensive water degeneration, focal necrosis, and inflammatory cells in portal area. Ultrastructural pathology showed numerous glycogen storage, bile pigment particle deposition, and lymphocyte infiltration. Gene mutation was detected in 2 patients and their parents. The DNA sequencing of the ABCB11 gene showed heterozygous mutations in the exon of No.13, 13311 T>C(V444A) and No.21, 2594 C>T(A865V) in one patient. Gene mutation was not detected in another patient. The literature review showed that clinical classification was mainly composed of hepatocellular type and antibiotics were the most common medicine to induce DILD in domestic children. Meanwhile, antipyretic-analgesic was the most common medicine to induce DILD in foreign children. ABCB11 gene mutation had been found more than 100 kinds. The V444A mutation was the most common site. Conclusions　The first symptoms of children with DILD are various. Medication history before onset, hepatic pathology, and detection ABCB11 gene were helpful to diagnose DILD.

One case of childhood hypomyopathic dermatomyositis complicated with interstitial lung disease and pneumomediastinum

WANG Tingjie, ZOU Min, SHEN Yunyan, ZHU Yun, WANG Lifeng, MIN Yue, LI Xiaozhong, FENG Qihua

. 2015, 33(12):  1040.  doi:10.3969 j.issn.1000-3606.2015.12.010

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　Objective　To investigate the clinical characteristics, diagnosis, and treatment of childhood hypomyopathic dermatomyositis complicated with interstitial lung disease and pneumomediastinum. Methods　One case of childhood hypomyopathic dermatomyositis complicated with interstitial lung disease and pneumomediastinum was retrospectively analyzed. The  related literatures were reviewed. Results　A 10 years and 11 months old female patient with facial enythema one month had shortness of breath after activities, muscle strength of Ⅴ level, normal muscular tension and typical skin rash. The creatine kinase level was slightly higher. The electromyography showed myogenic damage. The knee MRI showed that the soft tissue of the posterior bilateral femur had high signal of STIR sequence. The chest high resolution computed tomography (HRCT) showed interstitial lung disease and pneumomediastinum. Thus, hypomyopathic dermatomyositis complicated with interstitial lung disease and pneumomediastinum was clinically diagnosed. Finally, the patient died after a combination of anticoagulation and immunosuppressive therapies. Conclusions　The diagnosis of interstitial lung disease and pneumomediastinum should be suspected in the patients of hypomyopathic dermatomyositis with normal creatine kinase. The mortality of this disease is high. Pulmonary CT examination should be implemented promptly.

Isolation and drug resistance of Helicobacter pylori in children in Jiangxi

ZHANG Shuanghong, ZHU Xuan, LI Bimin, LIU Dongsheng, WAN Shenghua, LUO Lijuan, XIAO Zhenjun, LIU Yan, WU Yan

. 2015, 33(12):  1044.  doi:10.3969 j.issn.1000-3606.2015.12.011

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Objective　To investigate the incidence of Helicobacter pylori (H.pylori) infection in children with gastroduodenal diseases and to analyze the drug resistance of H.pylori isolates in Jiangxi. Methods　A total of 195 children with upper digestive tract symptoms were performed endoscopy and gastric biopsy from July 2014 to May 2015. H.pylori isolates were identified in incubated gastric mucosa. The H.pylori isolates resistant to amoxicillin, clarithromycin, and metronidazole were detected by E-test, and resistance to furazolidone were detected by K-B test. Results　A total of 80 H.pylori strains were isolated from gastric biopsy specimens in 195 children. The detection rate was 41.0%. Of all children, the detection rate in chronic superficial gastritis, duodenal bulb inflammation, gastric ulcer and duodenal bulb ulcer was 28.2%, 52.0%, 30.0% , and 51.2%, respectively. The resistance rate of H.pylori isolates to clarithromycin and metronidazole was 25.0% and 48.8%, respectively. The dual-resistance of H.pylori isolates to clarithromycin and metronidazole was 10%. No resistance of H.pylori isolates to amoxicillin and furazolidone was observed. Conclusions　H.pylori infection is a major cause of upper digestive tract disease in children. The resistance rate of H.pylori isolates to clarithromycin and metronidazole is high in Jiangxi.

Adverse effect of maternal high fat diet on metabolism in the F2 generation rats　

HUANG Yanhong, YE Tingting, LIU Chongxiao, FANG Fang, CHEN Yuanwen, DONG Yan

. 2015, 33(12):  1048.  doi:10.3969 j.issn.1000-3606.2015.12.012

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　Objective　To examine the effects of maternal high-fat (HF) diet on the development of metabolic diseases in their offspring. Methods　Female Sprague-Dawley rats were fed either a high fat diet (F0-HF) or control (F0-CON) diet for 8 weeks before mating and throughout gestation and first 3 weeks of lactation. At 11 weeks of age, F1 females were mated to produce the F2 generation (F2-HCC and F2-CON). The metabolic markers and the liver pathology were examined in the F2 generations at 3 weeks of age. Results　The F2-HCC had a significantly higher birth weight and body weight at one week of age than F2-CON (P<0.05，respectively). At 3 weeks of age, the fasting blood glucose level and glucose tolerance area under the curve (AUC) in F2-HCC were significantly higher than those in F2-CON (P<0.05，respectively); the levels of total serum cholesterol and liver triglycerides were significantly higher in F2-HCC than those in group F2-CON (P<0.05，respectively). At birth and 3 weeks of age, the histological examination showed different degrees of fatty liver in F2-HCC, but normal structure in F2-CON. Conclusions　Maternal HF diet may result in increased body weight, fatty liver and impaired glucose tolerance in the F2 offspring.

Effect of continuous light on the puberty initiation in female rat

CHEN Wenjun, TAN Yong

. 2015, 33(12):  1053.  doi:10.3969 j.issn.1000-3606.2015.12.013

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Objective　To investigate the effect of continuous light on the puberty initiation in female rats. Methods　 Forty 21-day-old female rats were weaned and randomly divided into two groups, continuous light group and control group. Continuous light group were exposed to light 24 hours a day while control group were exposed to 12h:12h light:dark cycle. After one week, E2, LH, FSH, PRL, T and MT were measured. MT was measured at different time points including zeitgber time (ZT) 2, ZT6, ZT10, ZT14, ZT18 and ZT22. The age at vaginal opening and first diestrus were observed. Behavior evaluation was carried out when rats were 40 days old. Rats were sacrificed at the age of 45 day and pineal gland was observed morphologically. Results 　The levels of E2, LH, FSH, PRL and T were significantly higher in continuous light group than in control group (P<0.05). MT level in control group during dark time was significantly higher than that in continuous light group (P<0.05). No significant difference was observed in MT level during daytime (P>0.05). The age at vaginal opening and first diestrus were earlier in continuous light group than control group (P<0.05). Open field test showed that the rats in continuous light group were more anxious than in control group. HE staining of pineal gland showed decreased and loosely distributed pineal cells in continuous light group. TEM test found that the nuclei in continuous light group had apoptosis-like changes and other ultrastructural changes. Conclusions　Excessive light can inhibit the secretion of melatonin and enhance the activity of sexual gland, which can result in the earlier sexual development.

Effects of 1,25-dihydroxyvitamin D3 on the stimulating ability of cord blood monocytes-derived dendritic cells to T cells proliferation

LI Haiyuan, TANG Zheng, WANG Yi, SHI Yingying, LIU Zhiwei

. 2015, 33(12):  1057.  doi:10.3969 j.issn.1000-3606.2015.12.014

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　Objective　To explore the effects of 1,25-dihydroxyvitamin D3 (1,25(OH)2D3) on the stimulating ability of cord blood monocytes-derived dendritic cells (DCs) to T cells proliferation. Methods　Umbilical cord blood was collected in aseptic condition. Cord blood monocytes were isolated and cultured for 8 days in the presence of rhGM-CSF, rhIL-4 and rhTNF-α for inducing to differentiate DCs, then intervened by 1,25(OH)2D3 (10 nmol/L). The expressions of differentiation and maturation markers on dendritic cells were determined by flow cytometry. Mixed lymphocyte reaction (MLR) was used and T cells were stained with CFSE to observe the stimulating ability of DCs to T cells proliferation by flow cytometry. Cytokines in the culture medium of MLR were measured by ELISA. Results　1,25(OH)2D3 treated-DCs stimulated less CD3+ T cells to proliferate than control group (61.6±8.23 vs. 75.21±6.21, P<0.01). Moreover, lower proliferation of both CD3+CD4+ and CD3+CD8+ T cells was observed in intervention group (59.24±10.22 vs. 74.54±6.89, P<0.05; 47.06±12.10 vs 59.97±9.11, P<0.05) . The IL-12 and IFN-γ levels in the culture medium of MLR in intervention group were significantly lower than control group (78.84±11.8 vs .99.06±9.07, P<0.05; 9.76±2.75 vs. 22.45±2.6, P<0.05), however, the IL-4 level in intervention group were significantly higher than control group (49.45±2.84 vs. 35.75±1.89, P<0.01). Conclusions　1,25(OH)2D3 inhibits the capability of DCs to activate CD3+CD4+ and CD3+CD8+ T cells, and instructs DCs to induce Th2 bias.

Progress of the early diagnosis and treatment of type 1 diabetic nephropathy

YANG Yu, HUANG Hui

. 2015, 33(12):  1062.  doi:10.3969 j.issn.1000-3606.2015.12.015

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End stage renal failure (ESRD) caused by diabetic nephropathy (DN) is the main reason of type 1 diabetes (T1DM) death. Microalbuminuria is an important early predictor of DN. Early diagnosis and timely treatment is important to prevent the DN development to ESRD. This paper summarizes the epidemiology, clinical features, early diagnosis and prevention of T1DM nephropathy (T1DN), hoping to raise the attention of early diagnosis and prevention of T1DN.

Progress in research of group B streptococcus infection and premature birth

SONG Dan, ZHANG Yayu, MEI Hua

. 2015, 33(12):  1065.  doi:10.3969 j.issn.1000-3606.2015.12.016

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　Group B streptococcus (GBS) is one of the main pathogens causing perinatal maternal-fetal infection. GBS infection in pregnant women can lead to premature birth, rupture of membranes, infection in premature infants, and GBS infection in premature infants has high morbidity and mortality. This paper review the progress of GBS infection associated with premature birth and preterm.

The progress in application of nutritional risk screening tools in pediatric patients　

YAN Jing

. 2015, 33(12):  1068.  doi:10.3969 j.issn.1000-3606.2015.12.017

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　The incidence of malnutrition in hospitalized children is high, and nutritional risk screening for hospitalized children is important for timely and appropriate nutritional therapy. The current nutritional risk screening tools for pediatric inpatient include subjective global nutritional risk assessment (SGNA), simple pediatric nutritional risk score (PNRS), screening tool for the assessment of malnutrition in pediatrics (STAMP), screening tool for risk of impaired nutritional status and growth (STRONG-kids), pediatric Yorkhill malnutrition score (PYMS), pediatric nutrition screening tool (PNST) and pediatric digital scaled malnutrition risk screening tool (PeDiSMART). All kinds of screening tools have their own advantages and disadvantages. Further studies are needed to find a simple, rapid and reliable screening tool. This article reviews the application of various nutritional risk screening tools for hospitalized children in recent years.

Advances of the diagnosis and treatment of epilepsy syndrome linked to chromosome 15　

DENG Yaping

. 2015, 33(12):  1073.  doi:10.3969 j.issn.1000-3606.2015.12.018

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Recent years, there is a great advance in the diagnosis and treatment of epilepsy, but there are still some kinds of epilepsy syndrome proven difficult to diagnose and manage for unknown etiology. Among etiologies, genetic factors are under intense study. Studies suggested that multiple epilepsy syndromes are correlated to chromosome 15 (15q), including Angelman syndrome, infantile spasms, childhood absence epilepsy, and so on. This article summarizes the research progress in the diagnosis and treatment of epilepsy as described above, expecting to give input for the new thoughts of clinics and research.