Professor Takeyori Saheki's team at Kagoshima University, Japan, published a paper in Nature Genetics in June 1999, pinpointing the pathogenic gene for adult-onset type Ⅱ citrullinemia as SLC25A13 and naming the protein product encoded by this gene as citrin. Over the past 25 years, the researches have made positive progress on the pathophysiological mechanism, clinical phenotype, molecular diagnosis, treatment, and prognosis of citrin deficiency (CD) as an autosomal recessive genetic disease. Currently, three age-dependent clinical phenotypes of CD have been found, namely neonatal intrahepatic cholestasis caused by citrin deficiency, failure to thrive and dyslipidemia caused by citrin deficiency, and adult-onset type Ⅱ citrullinemia. Although relevant internal medicine drugs are being researched and developed while liver transplantation has been used for the treatment of CD patients, scientific dietary therapy remains the foundation, core, and key for the management of this disease. Furthermore, CD management involves the full life cycle of patients, requiring the joint efforts of basic and clinical medicine as well as systematic articulation at multi-levels, such as the parents, family, and society. By full-cycle, multidisciplinary, and systematic management, it is an achievable goal for CD patients to learn, work, and live in a healthy manner.

To evaluate the effects of abdominal belts in colonoscopy for patients with low body mass index (BMI) (BMI<18.5 kg/m2) or a history of abdominal surgery, a prospective, randomized, single-blind study was conducted on colonoscopy outpatients. Patients with low BMI or a history of abdominal surgery who underwent colonoscopy at the Second Affiliated Hospital of Soochow University from January 2018 to January 2022 were enrolled. The patients were divided into the abdominal belts group and non-abdominal belts group according to whether they used abdominal belts. Differences between the two groups were compared in terms of cecal intubation time, length of colonoscope intubation into the cecum, patient repositioning, abdominal pressure, and degree of abdominal distension. A total of 296 patients (98 low BMI patients and 198 patients with a history of abdominal surgery) were enrolled, 148 in each group. The results showed that cecal intubation time (4.35±1.85 min VS 7.99±3.86 min, t=35.624, P<0.001) and length of colonoscope intubation into the cecum (72.03±10.35 cm VS 86.42±17.71 cm, t=38.442, P<0.001) were lower in the abdominal belts group, compared with those of the non-abdominal belts group. The percentage of patients requiring repositioning [18.9% (28/148) VS 71.6% (106/148), χ2=82.959, P<0.001] and abdominal pressure [6.1% (9/148) VS 52.7% (78/148), χ2=77.504, P<0.001] in the abdominal belts group were significantly lower than those in the non-abdominal belts group. There were significant differences in the degree of abdominal distension during and after colonoscopy ( P<0.001). In conclusion, the use of abdominal belts significantly improves the efficiency and effects of colonoscope intubation in difficult colonoscopy patients with low BMI and a history of abdominal surgery.

Objective To explore the correlation between social support and pregnancy depression in Shenzhen. Methods From August 2018 and June 2020, a structured questionnaire survey was conducted among pregnant women who underwent pregnancy examination in a 3A-grade maternal & child health care hospital. A total of 1 396 questionnaires with complete information were collected. Chi-square test and Wilcoxon rank sum test were used to analyze the baseline characteristics. The odds ratio (OR) and 95% CI confidence interval between social support and pregnancy depression were estimated using logistics regression model. Subgroup analysis was also conducted. Results There were statistically significant differences in education level, medical insurance rate, household registration, family monthly income, proportion of multiparas, proportion of husbands being the only child, pregnancy stress and social support between the depression group and non-depression group. After multi-factors adjustment, the OR (95% CI) of the total social support score was 0.97(95%CI 0.95-0.99), the OR (95% CI) of the objective support dimension was 0.90(95% CI 0.87-0.94), and the P value of the interaction term multiplied by pregnancy term was less than 0.05. According to the stratified analysis of pregnancy, the total score of social support was significantly correlated with the depression status only in the third trimester, with an OR (95% CI) of 0.97 (95% CI 0.94-0.99). The objective support dimension was significantly correlated with depression status in the first and third trimesters, and the OR (95% CI) was 0.78 (95% CI 0.61-0.99) and 0.89 (95% CI 0.84-0.94), respectively. The OR of support utilization score in the third trimester was 0.91 (95% CI 0.83-0.99). Conclusion Social support was negatively correlated with depression during pregnancy and was particularly important in the third trimester. Various dimensions of social support were differentially correlated with pregnancy depression in each trimester. The objective support dimension was particularly important in the first and third trimesters.

OBJECTIVETo detect potential mutation of the AGL gene in two siblings affected with glycogen storage disease type IIIa.

METHODSClinical data of the two siblings was collected and analyzed. Genomic DNA was extracted from peripheral venous blood samples from the patients and their parents. All exons and their flanking sequences of the AGL gene were subjected to PCR amplification and Sanger sequencing. Suspected mutation was verified in 75 healthy controls.

RESULTSThe main clinical features of the two siblings included hypoglycemia and hepatomegaly, along with markedly elevated liver and myocardial enzymes. Genetic analysis revealed that both siblings harbored compound heterozygous mutations c.1735+1G>T and c.959-1G>C of the AGL gene. Among these, the splicing mutation c.959-1G>C was a novel one with an allele frequency of <1%.

CONCLUSIONBased on their clinical features and genetic analysis, the siblings were diagnosed with glycogen storage disease type IIIa. The c.959-1G>C has enriched the spectrum of AGL gene mutations.

Adolescent ; Amino Acid Sequence ; Female ; Glycogen Debranching Enzyme System ; genetics ; Glycogen Storage Disease Type III ; genetics ; Humans ; Infant ; Male ; Mutation ; genetics ; Siblings

Objective To assess the value of magnetic resonance diffusion weighted imaging(DWI) and apparent diffusion coefficients(ADC) values of hepatic alveolar echinococcosis(HAE) in children.Methods 20 cases of children(≤14 years) with HAE were collected in this restrospective study.PNM staging was determined, the HAE peripheral area of DWI lesions with different P stages was observed, and the ADC value of the peripheral area was measured.The comparison of alveococcus lesions in different stages of DWI with continuous edge degree and ADC value difference was done to evaluate the growth activity.Results There were 5 cases of P1 lesions, 7 cases of P2 lesions, 2 cases of P3 lesions and 6 cases of P4 lesions.DWI features of peripheral area were as follows: High signal ring band between HAE lesion edge and adjacent normal hepatic parenchyma was observed.P1 lesions showed almost complete obviously high signal peripheral area, indicating the most active proliferation, P2 and P3 lesions of peripheral area were continuous and with high signal, and still had obvious growth activity.P4 lesions of peripheral area were not continuous, while the signal decreased, indicating the activity also decreased.The highest ADC value was detected in P1 lesions group of and the ADC value of P2 lesions group were lower than P1, and the ADC value of P4 lesions group were the lowest.P3 lesions samples were too small and thus no statistical analysis was done.Differences of ADC value between the three groups were statistically significant (P<0.05).Conclusion DWI image features could be used to assesse the growth activity of HAE in children with different stages to a certain extent.ADC values measurement provides important reference value for evaluating the growth activity at various stages of the lesions.

In recent years,hepatocellular carcinoma (HCC) has become one of the serious healththreatening malignancies worldwide,and its incidence and mortality rates continue to rise.Hepatitis B (HBV)is moderately endemic in China,with enormous numbers of HBV-related HCC cases.Although serum alphafetoprotein (AFP) and ultrasound are the major diagnostic methods for HCC,they have limited application for screening out early or small HCC.The current management of HCC is based on tumor size and location,not on suppressing tumorigenesis,and therefore patients are often faced with low 5-year survival and high relapse rates.Recent studies have shown that long-chain non-coding RNAs (lncRNAs) are closely associated with HCC tumorigenesis,which may have considerable utility as new diagnostic marker and treatment target for HCC.Here,we review the application of lncRNAs in the diagnosis,metastasis,treatment,recurrence,and prognosis of HCC.

Objective To explore the role of Orexin in pathogenesisepilepsy and treatment of epilepsy based on the literatures published from 1998 to 2014 at home and abroad.Methods Searched the literatures from the online database including Pubmed,CNKI and Wanfang Datebases in July 2014.The words Orexin,epilepsy,Orexin receptor,epilepsy treatment were used as search terms.Analyze the effect Orexin and its receptors in the occurrence,development and treatment of epilepsy.Results 102 related literatures were retrieved and 30 were adopted into analysis.It was showed Orexin is a kind of excitatory neuropeptides and it can increase the excitability of cerebral cortex.Epilepsy can be induced bv excessive expression of Orexin.Conclusion Excessive expression of Orexin can cause epileptic seizure.Inhibiting the excessive activation of Orexin neurons is of important to control seiznres in clinical practices.

OBJECTIVETo investigate the clinical features and AGL gene mutations in a family with glycogen storage disease type IIIa (GSD IIIa).

METHODSClinical data for diagnosis, treatment and follow-up of a sick child with GSD III was collected and analyzed. Genomic DNA was extracted from the peripheral blood samples from the patient and his parents. Polymerase chain reaction and direct DNA sequencing were utilized to analyze all of the exons of the AGL gene.

RESULTSThe genotype of the child was found to be c.3710_3711delTA/IVS14+1G>T. The former was a maternally-inherited mutation, which has not been reported previously. The latter was an abnormal splice-site mutation inherited from the father.

CONCLUSIONBased on its clinical and molecular evidences, the patient was diagnosed as GSD IIIa in conjunction with retrobular optic neuritis.

Adult ; Asian Continental Ancestry Group ; genetics ; Base Sequence ; Child, Preschool ; China ; Female ; Glycogen Debranching Enzyme System ; genetics ; metabolism ; Glycogen Storage Disease Type III ; enzymology ; genetics ; Humans ; Male ; Molecular Sequence Data ; Pedigree ; Point Mutation

Background and objective Gemcitabine and taxanes are effective agents commonly used in advanced squamous lung cancer. hTe best treatment sequence, however, is unclear to our knowledge. So we conducted this retrospective study in order to compare the effcacy and toxicities of ifrst-line Gemcitabine+/-platinum followed by second-line taxanes+/-platinum with the reverse sequence. Methods We totally analyzed 105 patients with stage IIIb-IV squamous lung cancer in our retrospective study. hTere were 49 patients receiving gemcitabine+/-platinum ifrst-line followed by taxanes+/-plati-num second-line (G-T group), and 56 patients receiving taxanes+/-platinum ifrst-line followed by gemcitabine+/-platinum second-line (T-G group). hTe primary endpoint of the study was overall survival (OS), and the secondary endpoints included progression-free survival (PFS), objective response rate (ORR), disease control rate (DCR) and toxicities. Results hTe me-dian OS were 18.5 mo in G-T group and 19.0 mo in T-G group (P=0.520). hTe median PFS1 was 5.0 mo and 4.0 mo with ifrst-line gemcitabine+/-platinum and taxanes+/-platinum, respectively (P=0.584). hTe median PFS2 was 2.7 mo and 2.5 mo with second-line gemcitabine+/-platinum and taxanes+/-platinum (P=0.432). hTe ORR1 of G-T group and T-G group were 36.73%and 33.92%(P=0.577), and DCR1 were 79.59%and 89.29%(P=0.186);the ORR2 of G-T group and T-G group were 4.08%and 5.36%(P=0.085), and DCR2 were 51.02%and 66.07%, respectively (P=0.118). Hematologic toxicities was more frequent in G-T group, the patients experienced more grade 3-4 lower hemoglobin (P=0.027) and thrombocytopenia (P=0.002). Conclusion hTe effcacy of ifrst line gemcitabine+/-platinum followed by second line taxanes+/-platinum and the reverse sequence was similar, and the toxicities was tolerable. Both sequential patterns were effective in advanced squamous lung cancer.

Objective:To explore the effect of serum orexin-A on cognitive impairment caused by epilepsy.Methods:The cogni-tive function of 80 epileptic patients and 40 healthy controls was evaluated by mini-mental state examination (MMSE),while the level of orexin-A in fasting venous blood sample was detected by enzyme linked immunosorbent assay (ELISA).Results:The incidence rate of cognitive impairment in epileptic group was higher than that in control group,and there was a significant difference (P <0.05).The level of orexin-A in epileptic patients with cognitive impairment was lower than that in epileptic pa-tients without cognitive impairment and healthy controls,and there was a significant difference (P <0.05).The level of orex-in-A in epileptic patients with severe cognitive impairment was lower than that in epileptic patients with mild or moderate cogni-tive impairment,and there were significant differences (P <0.05).Conclusions:The decreasing level of Orexin-A may be re-lated to cognitive impairment of epileptic patients.