Objective:To investigate the effect of fresh food homogenate instead of traditional liquid and semiliquid diet on the condition of nutrition and aspiration in the early stage of pulling out the na-sogastric tube in patients with moderate dysphagia.Methods:Forty patients with tube feeding were randomly divided into observation group and control group.Each group had 20 cases.After extubation,the observation group ate fresh food homogenate,and the control group were feeding liquid and semi liquid diet.The actual calories intake,protein,carbohydrate,lipid and dietary fiber were recorded on the first day and the fifteenth day of intervention.The values of serum albumin,prealbumin,hemoglobin and total lymphocyte count were measured.The rate of aspiration and constipation was observed continuously during the study.Results:After 2 weeks of intervention,the daily energy and nutrient intake,nutritional biochemical indexes of observation group were higher than those of control group (P ＜ 0.05),and the incidence of aspiration and constipation was decreased in observation group (P ＜ 0.05).Conclusion:Compared with the conventional liquid and semi liquid diet,fresh food homogenate can increase the intake of daily calorie and nutrition in patients with moderate dysphagia in the early stage after the feeding tube was pulled out,improve nutritional status,reduce the aspiration and constipation,and be well tolerated.

Objective:To report the clinical features of KCNQ2-associated epilepsy and the novel mutations and unreported clinical phenotype of KCNQ2 gene, so as to provide help for treatment selection and prognosis evaluation.Methods:Among 979 patients with epilepsy and developmental delay who were admitted to the Department of Neurology,Children′s Hospital Affiliated to Capital Institute of Pediatrics from July 2015 to October 2019, a total of 13 patients were selected from 12 families with KCNQ2 gene mutation by whole exome sequencing technology. Suspected mutations were verified by Sanger sequencing on the probands and their parents to identify the source. The clinical phenotype and genotype were analyzed according to these results.Results:Among the 13 patients with epilepsy, the onset age of four cases were older than six months [two cases in infancy (epilepsy encephalopathy), one case in early childhood (epilepsy encephalopathy) and one case in adolescence (benign epilepsy)]. Eight cases were treated with oxcarbazepine, of whom five cases were seizure free, and two cases showed partial response (>50%). Two cases treated with topiramate were seizure free. Five novel mutations were found in this research, including c.379T>G(p.Y127D), c.1A>C(initial codon mutation), c.708G>C(p.W236C), c.1027G>T(p.A343S) and c.1649T>G(p.V550G).Conclusions:Although it was rare in clinical work, the variation of KCNQ2 gene existed in patients with childhood-onset epilepsy and adolescent-onset epilepsy. Meanwhile, five novel mutations of KCNQ2 gene were reported, which further expanded its gene spectrum. This research supported that oxcarbazepine was the efficient medicine for the KCNQ2-associated epilepsy. Genetic testing showed great help to the treatment of epilepsy.

Objective To investigate the effect of fresh apple pulp on abdominal distention and constipation in patients with tube feeding.Methods 62 patients with tube feeding were divided into the observation group(n=31) and control group(n=31) randomly.The patients in the observation group were given routine enteral nutrition and fresh apple pulp,while those in the control group were given the routine enteral nutrition and rice soup.Results 3 cases developed abdominal distention in the observation group,but 10 cases in the control group(P<0.05).4 cases developed constipation in the observation group,but 12 cases in the control group(P<0.05).Moreover,the duration of abdominal distention and constipation significantly decreased in the observation group compared with those of the control group(P<0.05).Conclusion Fresh apple pulp can prevent and reduce abdominal distention and constipation in patients with tube feeding.

Objective To analyze the pathologically confirmed pulmonary Actinomycosis in the 11 patients in focusing on clinical features and mis-diagnostic reasons so as to improve physicians' awareness of this rare disease and reduce the misdiagnosis.Methods We retrospectively reviewed the medical records of 11 cases with pathologically confirmed pulmonary Actinomycosis during January 2003-August 2015.The clinical data and main causes of misdiagnosis in these cases were collected and analyzed.Results The study included 11 patients with a mean age of(53.0 ± 11.6.0)years.Among the 11 cases,8 (72.7 ％) patients had complications,6 (54.5 ％) were current or ex-smokers.Main clinical manifestations of 11 cases were cough(11/11,100.0 ％),sputum(11/11,100.0 ％),hemoptysis (7/11,63.6％),chest pain(6/11,54.5％)and fever(3/11,27.3％).Ten patients presented with one lobe of lung lesions,including 4 patients in the lower lobe and 3 in the upper lobe of the left lung,2 in the upper lobe and 1 in the lower lobe of the right lung.While,the remained one case presented with lesion locating in right main bronchus.Iconography often presented as pulmonary mass shadow,consolidation shadow,spicule sign,lobulation sign,hilar and/or mediastinal lymphadenopathy and pleural effusion.Vacuolar lesions were observed in some of the focuses.Flexible bronchoscopy was performed in 8 (72.7％)patients.Among them,7 patients showed mucosal swelling and congestion,luminal occlusion with purulence secretion,2 cases with polypoid neoplasm.Initial misdiagnosis rate were 100％ (11/11),among which 7 cases were misdiagnosed as lung cancer,2 cases as fungus infection,and 1 case as pulmonary tuberculosis and 1 case as pneumonia,respectively.All patients were definitely diagnosed by biopsy finding an evidence of hyphae of Actinomycosis in lung tissue specimens.The definitive diagnosis was made by CT-guided percutaneous lung biopsy in 4 cases,by transbronchial lung biopsy (TBLB)in 5 cases and by thoracotomy or video-assisted thoracoscopic surgery(VATS) in 1 case respectively.Actinomycosis in most patients was cured with high-dose penicillin administration over a prolonged period.Conclusions The diagnosis of pulmonary Actinomycosis remains challenging via its non-specific clinical symptoms and iconography features,and the presence of comorbidity may further increase the difficulty and complexity of diagnosis,leading to delaying-or mistaking-diagnosis.Obtaining positively pathological specimens is diagnostic key.Transbronchial lung biopsy through a bronchoscope and CT-guided percutaneous needle biopsy are the priority methods.

The study aims to investigate the associations of SUMO4 polymorphisms with tacrolimus concentrations in Chinese renal transplant recipients. Blood samples and clinical data were collected from 132 renal transplant recipients with tacrolimus treatment. CYP3A5*3 genotypes were detected by PCR-RFLP, and SUMO4 (rs237024, rs237025) genotypes were detected by Sequenom® MassARRAY system. SUMO4 rs237024 and rs237025 genotypes were in complete linkage disequilibrium (D' = 1). The dose-adjusted concentration of tacrolimus in SUMO4 rs237024A-rs237025A (GA-GA +AA-AA) carriers was considerably higher than that in GG-GG carriers (P < 0.05). After stratification by CYP3A5*3 genotypes, SUMO4 rs237024A-rs237025A carriers (GA-GA+AA-AA) had a higher dose-adjusted tacrolimus concentration than that in GG carriers in CYP3A5 expresser (P < 0.05). The results illustrated that SUMO4 rs237024 and rs237025 polymorphisms were associated with tacrolimus concentrations, and the test of these genotypes may be useful for individualized medicine of tacrolimus.

OBJECTIVE To identify potential mutation in a patient with cutis laxa through exome sequencing of genetic disease-related genes and explore its clinical and genetic features. METHODS Clinical data was collected for the proband and her parents. Exome sequencing was carried out on the proband. Suspected mutations were verified by Sanger sequencing. RESULTS Exome sequencing identified a compound heterozygous mutation of the ATP6V0A2 gene, c.187C>T (p.R63X) and c.1189G>C (p.A397P), in the proband. The mutations were respectively inherited from the father and mother. The patient was diagnosed with autosomal recessive cutis laxa type 2A (ARCL2A). CONCLUSION A case with ARCL2A was diagnosed. The novel mutation has expanded the spectrum of ATP6V0A2 mutations. Exome sequencing is a useful tool for the diagnosis of complex genetic diseases.

Statins,the inhibitor of 3-hydroxy-3-methylglutaryl coenzyme A(HMG-CoA)reductase,are mostly prescribed for the treatment of hyperlipidemia and prevention of cardiovascular events. Several studies have suggested that statins can reduce the risk of colorectal cancer,however,there is still a debate on its chemopreventive effect. This article summarized the local and overseas studies focusing on this issue,and made a brief overview on the effect of statins in prevention of colorectal cancer and adenoma and its potential mechanisms.

Aim To investigate the impact of CYP3 A5 genetic polymorphism on modified releasing tacrolimus pharmacokinetics in Chinese stable renal transplant re-cipients. Methods Pharmacokinetics of once daily-ta-crolimus( tac-q. d. ) and twice daily-tacrolimus( tac-b. i. d. ) were determined by CLIA, CYP3A5 genotype was measured by PCR-RFLP. Each 10 patients receiv-ing tac-q. d. and tac-b. i. d. respectively were en-rolled, and each 5 patients receiving tac-q. d. were matched to poor metabolizer ( PM ) and extensive me-tabolizer ( EM ) group respectively according to CYP3A5 genotypes. Results AUC0~24 h for tac-q. d. was 1. 78 folds higher than AUC0~12 h for tac-b. i. d. , and dose-adjusted C0 was 40% lower for tac-q. d. than for tac-b. i. d. There were no significant differences for other parameters between the two groups; Cmax, AUC0~24 h and C0 were 1. 75, 1. 96 and 2. 49 folds higher for PM than for EM, and dose-adjusted Cmax, AUC0~24 h and C0 were 1. 80, 2. 34 and 2. 64 folds higher for PM than for EM. There were good correla-tions between AUC0~24 h and C0 for tac-q. d. Conclu-sion Conversion from tac-b. i. d. to tac-q. d. results in requirement of increased tacrolimus dose and detec-tion of CYP3A5 genotype, which is necessary for ensu-ring C0 in the range of therapeutic window.

OBJECTIVE: To report on a family which has two siblings with SCN2A mutation caused by germline mosaicism suffering from autism spectrum disorder/development delay (ASD/DD). METHODS: Clinical data was collected for the proband and his parents. Next generation sequencing (NGS) was carried out on the proband and his parents. Suspected mutations were verified by Sanger sequencing of the proband, his parents and brother. To detect whether there is a low proportion of somatic mosaicism in the parents, a droplet digital PCR was conducted. The result of ddPCR showed that the father was germline mosaicism (0.233%). RESULTS: NGS has identified a de novo splicing mutation of the SCN2A gene, c.605+1G>A, in the proband and his brother. Combined with its clinical phenotype and inheritance pattern, SCN2A was judged to be the pathogenic gene. Above findings strongly suggested parental germline mosaicism. CONCLUSION ASD/DD in siblings with SCN2A mutations caused by germline mosaicism. Paternal mosaicism should be considered as one of the important inheritance patterns for counseling parents with a child carrying SCN2A mutation. The ddPCR can help to reveal very low proportion of germline mosaicism.
Autism Spectrum Disorder ; Germ Cells ; Humans ; Male ; Mosaicism ; Mutation ; NAV1.2 Voltage-Gated Sodium Channel/genetics* ; Siblings

OBJECTIVE: To explore the genetic basis for a pedigree affected with X-linked recessive mental retardation Claes-Jensen type. METHODS: Genomic DNA was extracted from peripheral blood samples of the patient, his parents (phenotypically normal) and two elder brothers with similar clinical manifestations. Whole exome sequencing was carried out for the proband, and the result was verified by Sanger sequencing. RESULTS: The proband was found to harbor a hemizygous c.1565C>T missense variant in exon 11 of the KDM5C gene. The transition has resulted in replacement of serine by phenylalanine at position 522 (p.Ser522Phe). Sanger sequencing showed that the patient's two elder brothers and mother carried the same variant, which was predicted to be probably damaging by SIFT, PolyPhen2 and Mutation_Taster. The three affected brothers presented with similar clinical phenotypes characterized by mental retardation, speech delay, behavioral problem, self-limited epilepsy responsible to medication, short stature and microcephaly. The mother only had mild cognitive impairment and learning disability. The same variant was not found in their father and was unreported previously. CONCLUSION The c.1565C>T (p.Ser522Phe) of the KDM5C gene probably underlay the X-linked recessive mental retardation Claes-Jensen type in this pedigree.
Aged ; Female ; Histone Demethylases/genetics* ; Humans ; Male ; Mental Retardation, X-Linked/pathology* ; Mutation, Missense/genetics* ; Pedigree ; Phenotype ; Whole Exome Sequencing