Vigabatrin-associated brain abnormalities on magnetic resonance imaging (VABAM) is a relatively rare side effect of vigabatrin, most of which are asymptomatic. However, there will be extremely rare cases with hyperkinetic disorders, myoclonus, tremor, and acute encephalopathy under certain circumstances. VABAM is often underappreciated by physicians and its accurate incidence remains unclear. A female infant who was diagnosed with infantile spasms and required adrenocorticotropic hormone therapy accompanied by various antiseizure medicines was reported. Unfortunately, she became lethargic and her spasm deteriorated gradually after vigabatrin exposure. Her brain magnetic resonance imaging revealed abnormal signals bilaterally in the dorsal midbrain, thalamus, and rostral part of the pallidum. She had a seizure amelioration and became lively as a result of vigabatrin withdrawal. In the meanwhile, magnetic resonance imaging returned to normal. Attempts were made to discover the risk factors of VABAM and potential pathogenesis. Further understanding of the disease should contribute to decreasing misdiagnosis and making precise decisions.

Objective:To explore the effect of pregabalin on sleep structure in rats with temporal lobe epilepsy induced by pilocarpine.Methods:Twelve adult SD rats (half male and half female) were injected intraperitoneally with pilocarpine to establish a chronic temporal lobe epilepsy model.According to the principle of gender matching, they were divided into model group and pregabalin group, with 6 rats in each group(half male and half female). Another 6 SD rats (half male and half female) were taken as the control group.The skull electrodes were placed in the brain areas of rats to monitor the cerebral electrical activity, then recorded the data after resting for 1 week.Rats in pregabalin group were intraperitoneally injected with 50 mg/kg pregabalin while the rats in model group and control group were intraperitoneally injected with equal volume of normal saline.Fifteen minutes later, video electroencephalogram(EEG) and electromyogram(EMG) of rats in each group were recorded.The recording time was from 10∶00 to 17∶00 for 2 consecutive days.The seizure frequency, EEG and EMG were obtained.SPSS 25.0 was used for data analysis, one-way ANOVA was used for multi group comparison, and Tukey test and Games-Howell test were used for further pairwise comparison.Results:(1)The frequency of seizures in the pregabalin group (0.0(0.0, 1.0)times) were significantly lower than that in the model group(2.5(1.0, 4.8)times)( Z=-3.0, P<0.05). (2)During the 7 h recording period, the analyzed data showed that there were significant differences in the sleep-wake transition frequency, slow-wave sleep(SWS) phase duration, rapid eye movement (REM) sleep phase duration, total SWS time, total REM time and total sleep time among the three groups( F=10.5, 4.1, 13.0, 7.8, 4.4, 9.3, all P<0.05). The frequency of sleep-wake transitions in the pregabalin group ((66.3±18.0) times) and the control group ((87.8±14.1) times) were less than that in the model group ((106.7±20.8) times) (both P<0.05). The duration of SWS phase ((11.2±4.0) min) in pregabalin group was significantly longer than that in model group ((5.9±1.8) min) ( P<0.05), while that in model group was shorter than that in control group ((7.7±1.2) min) ( P<0.05). The duration of REM phase in the model group ((1.9±0.4) min) was shorter than that in the control group ((2.5±0.4) min) ( P<0.05). There was no significant difference in the duration of REM phase between the pregabalin group and the model group ( P>0.05). Within 7 h of observation, the total SWS time ((296.5±37.1) min) and total sleep time ((338.4±33.3) min) in pregabalin group were longer than those in model group ((258.1±38.4) min, (288.9±41.0) min) (both P<0.05). The total REM time ((30.4±11.1) min) and total sleep time ((288.9±41.0) min) in the model group were significantly shorter than those in the control group ((50.2±8.5) min, (339.0±19.6) min) (both P<0.05). Conclusion:Pregabalin alone can reduce seizures and change the sleep structure disorder caused by epilepsy, which is mainly manifested in reducing the number of sleep-wake transitions, prolonging the duration of SWS, increasing sleep duration, increasing SWS and total sleep time and improving sleep quality.

Narcolepsy is a rare sleep-wake rhythm disorder in clinic practice, mainly characterized by recu-rrent unstoppable sleep during the day and often accompanied by cataplexy, sleep paralysis and hypnagogic hallucinations.Clinicians′ insufficient knowledge about narcolepsy is one of the main causes of misdiagnosis and delayed diagnosis.Moreover, narcolepsy may get easily confused by epilepsy because of complex and diverse types of epileptic seizures.Therefore, it is necessary to distinguish the two forms each other.When they are comorbidity, the diagnosis and treatment will be much more difficult.In this article, the clinical characteristics of narcolepsy and the causes of delayed diagnosis were analyzed, differential diagnosis between narcolepsy and epilepsy was investigated, and practical expe-rience in diagnosis and treatment of comorbidities were summarized, so as to raise clinicians′ awareness of narcolepsy and its comorbidity with epilepsy and improve patients′ prognosis and their quality of life.

Objective:To analyze the results of liver cancer screening for urban residents in Zhejiang Province from 2013 to 2018 and explore the influencing factors of the detection rate.Methods:From September 2013 to August 2019, six urban communities in Hangzhou (Jianggan District and Gongshu District), Ningbo (Haishu District, Yinzhou District and Jiangbei District), and Quzhou (Kecheng District) were selected as study sites. All permanent residents aged 40-74 (with local household registration and living in the local area for more than 3 years) were selected as the research subjects by using cluster sampling method. Patients with confirmed cancers and other serious medical and surgical diseases were excluded. A total of 166 293 research subjects were included. Basic demographic characteristics and risk factors of subjects were obtained through questionnaire surveys. The cancer risk assessment system was used to evaluate the liver cancer risk of subjects. Clinical screening participation and screening results for subjects at high risk of liver cancer were obtained from participating hospitals. The high-risk rate of liver cancer, clinical screening rate, detection rate of positive lesions, and detection rate of suspected liver cancer were analyzed. Poisson regression was used to analyze the influencing factors of detection rate.Results:The age of 166 293 subjects was (56.01±8.40) years, of which 41.36% (68 777) were males. A total of 23 765 high-risk subjects for liver cancer were screened (the high-risk rate was 14.29%). Among them, a total of 12 375 subjects participated in clinical screening for liver cancer, with a screening rate of 52.07% (12 375/23 765). A total of 297 cases of positive lesions were detected and the detection rate was 2.40% (297/12 375). A total of 8 cases of suspected liver cancer were detected, with a detection rate of 0.06% (8/12 375). The results of multivariate Poisson regression model analysis showed that compared with men, people who never smoked, never ate pickled food, had low oil content, and had no history of hepatobiliary disease, female, people who were smoking or had smoked, sometimes ate pickled food, ate higher oil content, and had a history of hepatobiliary disease had a higher detection rate of positive lesions. The incidence rate ratio (IRR) ( 95%CI) values were 1.98 (1.45-2.70), 2.23 (1.61-3.09)/2.08 (1.31-3.28), 1.82 (1.22-2.70), 1.44 (1.08-1.91), and 1.45 (1.05-2.00), respectively. Compared with those aged from 40 to 49 years old and without HBsAg test, the IRR (95% CI) of suspected liver cancer in people aged 70 to 74 years old and HBsAg positive were 16.30 (1.32-200.74) and 6.43 (1.24-33.22), respectively. Conclusion:The urban cancer early diagnosis and early treatment project in Zhejiang Province has good compliance in clinical screening of liver cancer. Abdominal ultrasound examination and serum alpha-fetoprotein detection are helpful to detect liver cancer and its precancerous lesions in the high-risk population of liver cancer.

Objective:To analyze the results of liver cancer screening for urban residents in Zhejiang Province from 2013 to 2018 and explore the influencing factors of the detection rate.Methods:From September 2013 to August 2019, six urban communities in Hangzhou (Jianggan District and Gongshu District), Ningbo (Haishu District, Yinzhou District and Jiangbei District), and Quzhou (Kecheng District) were selected as study sites. All permanent residents aged 40-74 (with local household registration and living in the local area for more than 3 years) were selected as the research subjects by using cluster sampling method. Patients with confirmed cancers and other serious medical and surgical diseases were excluded. A total of 166 293 research subjects were included. Basic demographic characteristics and risk factors of subjects were obtained through questionnaire surveys. The cancer risk assessment system was used to evaluate the liver cancer risk of subjects. Clinical screening participation and screening results for subjects at high risk of liver cancer were obtained from participating hospitals. The high-risk rate of liver cancer, clinical screening rate, detection rate of positive lesions, and detection rate of suspected liver cancer were analyzed. Poisson regression was used to analyze the influencing factors of detection rate.Results:The age of 166 293 subjects was (56.01±8.40) years, of which 41.36% (68 777) were males. A total of 23 765 high-risk subjects for liver cancer were screened (the high-risk rate was 14.29%). Among them, a total of 12 375 subjects participated in clinical screening for liver cancer, with a screening rate of 52.07% (12 375/23 765). A total of 297 cases of positive lesions were detected and the detection rate was 2.40% (297/12 375). A total of 8 cases of suspected liver cancer were detected, with a detection rate of 0.06% (8/12 375). The results of multivariate Poisson regression model analysis showed that compared with men, people who never smoked, never ate pickled food, had low oil content, and had no history of hepatobiliary disease, female, people who were smoking or had smoked, sometimes ate pickled food, ate higher oil content, and had a history of hepatobiliary disease had a higher detection rate of positive lesions. The incidence rate ratio (IRR) ( 95%CI) values were 1.98 (1.45-2.70), 2.23 (1.61-3.09)/2.08 (1.31-3.28), 1.82 (1.22-2.70), 1.44 (1.08-1.91), and 1.45 (1.05-2.00), respectively. Compared with those aged from 40 to 49 years old and without HBsAg test, the IRR (95% CI) of suspected liver cancer in people aged 70 to 74 years old and HBsAg positive were 16.30 (1.32-200.74) and 6.43 (1.24-33.22), respectively. Conclusion:The urban cancer early diagnosis and early treatment project in Zhejiang Province has good compliance in clinical screening of liver cancer. Abdominal ultrasound examination and serum alpha-fetoprotein detection are helpful to detect liver cancer and its precancerous lesions in the high-risk population of liver cancer.

Objective:To analyze the results and cost-effectiveness of colorectal cancer (CRC) screening program among Zhejiang urban residents so as to provide evidence for further optimization of CRC screening strategies.Methods:Based on the Cancer Screening Program in Urban China which was conducted in Zhejiang province from 2013-2018, data related to the rates on compliance and detection through the CRC screening program among the 40-74 year-old residents were analyzed. Chi-square tests were used to compare the differences among groups, and multivariate logistic regression models were applied to explore the potential risk factors. Cost-effectiveness ratio (CER) was calculated by using the cost per lesion detected as the indicator.Results:Among all the 166 285 participants who completed the risk assessment questionnaire, 21 975 (13.2%) were recognized as under the high risk of CRC and 4 389 (20.0%) of them received the colonoscopy. The detection rates of CRC, advanced adenoma, and non-advance adenoma were 0.3% (11 cases), 2.7% (119 cases), and 5.2% (229 cases), respectively. Results from the multivariate logistic regression analyses showed that factors as age, gender, education level, smoking, drinking alcohol, previous fecal occult blood test (FOBT), polyp history, and family history of CRC were significantly associated with the compliance rate of colonoscopy while age, smoking and polyp history were significantly associated with the detection rate of advanced neoplasms (CRC and advanced adenoma). The costs were ￥22 355.74 Yuan for every CER advanced neoplasm detection and ￥264 204.18 Yuan per CRC detection, respectively. The CER decreased along with ageing. Sensitivity analysis showed that CERs were expected to decrease when the compliance rate of colonoscopy was increasing.Conclusions:The current screening program seems effective in detecting the precancerous colorectal lesions, but the relatively low compliance rate of colonoscopy restricting both the diagnostic yields and economic benefits. It is necessary to improve the awareness and acceptance of colonoscopy among the high-risk CRC population.

We hereby reported a fetus with abnormal head shape, ventricular septal defect, gallbladder enlargement, low-set ears and local umbilical cord glial edema at 22 and 25 weeks of gestation ultrasound scan. A 15.318 Mb heterozygous microdeletion on chromosome 1p32.1p31.1, arr[GRCh37]1p32.1p31.1(61,279,239-76,597,189)×1, was indentified by chromosomal microarray analysis. The chromosome karyotype of the fetus was 46,XY,del(1)(p32.1p31.1). Therefore, this case was diagnosed as 1p32p31 microdeletion syndrome and proved to be a de novo variation based on routine G-banding analysis and chromosomal microarray analysis of the normal parents. This syndrome might present with abnormalities in the head shape, kidney, bladder and central nervous system. The couple decided to terminate the pregnancy after genetic counseling concerning the possible poor outcomes of the fetus.

Objective: To screen the hospitalized children with pectus excavatum for nutritional status, and to analyze the influencing factors of nutritional status, then to provide the scientific basis for comprehensive management of clinical nutrition. Methods: The body mass index (BMI) of 360 hospitalized children with pectus excavatum in Guangzhou Women and Children′s Medical Center from January 2013 to December 2017 were reviewed and compared with World Health Organization standard and the emaciation rate was calculated.The influencing factors such as CT index, age, weight, height, sex, the width of thorax and surgical treatment were analyzed with BMI. Results: Compared with the lowest standard of BMI, the whole emaciation rate of hospitalized children with pectus excavatum was 93.61% (337/360 cases): in which severe, moderate and slight emaciation were 74.17% (267/360 cases), 13.33% (48/360 cases), and 6.11% (22/360 cases), respectively.BMI was negatively related with CT index (r=-0.172, P=0.001), but positively related with age, weight, height, and the width of thorax (r=0.129, 0.342, 0.022, 0.179, P=0.014, 0.001, 0.673, 0.001). Three years after Nuss procedure, both the whole and severe emaciation rate decreased (93.62% vs. 95.74%; 65.96% vs. 78.72%), but the weight, height and BMI increased [25.5(12.5, 38.5) kg vs.17.0(10.0, 24.0) kg; 126.0(99.0, 153.0) cm vs.108.0(74.5, 143.5) cm; 14.69(12.38, 17.00) kg/m² vs. 14.36(12.17, 16.56) kg/m²], and the differences were significant (all P<0.01). Conclusions There is a high nutritional risk in hospitalized children with pectus excavatum, and the deformity severity is the main risk factor.Surgical treatment can improve the nutritional status effectively, but the malnutrition in pectus excavatum can not be corrected completely.

OBJECTIVE: To make molecular diagnosis of an infant affected with severe developmental delay and multiple birth defects, assisting prenatal diagnosis for the second pregnancy. METHODS: Standard G-banded karyotyping was performed for the fetus and his parents. Single nucleotide polymorphism array (SNP array) was used to detect submicroscopic chromosomal aberration. Fluorescence in situ hybridization (FISH) was employed to determine the parental origin of the aberration. RESULTS: Both the proband and the fetus harbored a 5.4 Mb distal 4p deletion and a 6.9 Mb distal 6q duplication. FISH confirmed that the mother has carried a balanced translocation involving 4p and 6q. CONCLUSION The unbalanced chromosomal aberration in the proband and the fetus were both derived from the mother. Both patients showed a Wolf-Hirschhorn syndrom phenotype and partial phenotype of 6q trisomy. SNP array combined with FISH are essential for the detection of cryptic chromosomal aberrations which may be missed by coventional karyotyping analysis.
Chromosomes, Human, Pair 4 ; genetics ; Chromosomes, Human, Pair 6 ; genetics ; Female ; Humans ; In Situ Hybridization, Fluorescence ; Infant ; Karyotyping ; Male ; Pedigree ; Pregnancy ; Prenatal Diagnosis ; Translocation, Genetic ; Wolf-Hirschhorn Syndrome ; genetics

Objective To analyze the genotype-phenotype correlation in fetal skeletal dysplasia,and to investigate the methods of prenatal diagnosis and genetic counseling.Methods From May 2016 to November 2017,three gravidas whose fetuses were diagnosed with short stature homeobox (SHOX) gene deficiency were recruited from those receiving invasive prenatal diagnosis and single nucleotide polymorphismarray (SNP-array) due to fetal structural abnormalities detected by prenatal ultrasound scan in Shanghai First Maternity and Infant Hospital,Tongji University School of Medicine.Fetus 1 and 3 were singleton pregnancies and fetus 2 was twin pregnancy.Amniotic fluid cells were isolated and analyzed by karyotyping and SNP-array.Peripheral blood samples were collected from their parents and also analyzed by SNP-array.Results All three fetuses were diagnosed with fetal skeletal dysplasia based on second trimester ultrasound findings showing the lengths of femora,humeri,tibiae,fibulae,ulnae and radii length below the 5th percentile of corresponding gestational age.Karyotypes of the three fetuses were normal.SNP-array examination showed that each case had 1 to 2.5 Mb deletion in the pseudoautosomal region of the short arms of sex chromosomes,including SHOX gene.Their skeletal dysplasia were all caused by SHOX haploinsufficiency.Microdeletions of fetus 1 and 3 were inherited from their mothers,while that of fetus 2 was inherited from the father.After genetic counseling,two singleton gravidas decided to terminate their pregnancies and the twin pregnant one underwent selective reduction.Conclusion Prenatal ultrasound,in combination with SNP-array,offers fast and efficient detection of fetal skeletal dysplasia due to SHOX gene deficiency.