Objective To compare the results between laparoscopic repair and surgical procedures in perforation of duodenal ulcer. Methods Fifteen p atients were operated on perforation of duodenal were by laparoscopic repair, an d thirty patients performed open repair or partial gastrectomy at the same peri od were chosen as control groups. Results The operating time in laparoscopic group and other two surgical groups were 59 min, 84 min and 204 min; postoperati ve requirement of analgesic was 7％(1/15), 73％(11/15) and 80％(12/15) in three groups respectively. The recovery time of gastrointestinal function was 25 h, 56 h, and 72 h. the mean time of hospitalization was 6 d, 8 d and 10 d. The differ ences among groups were significant (P

Objective To investigate the effects of omega-3 polyunsaturated fatty acids (ω-3 PUFA) on inflammatory response,nerve damage,and outcomes in patients with severe traumatic brain injury (sTBI).Methods Altogether 120 sTBI patients were selected from January 2013 to September 2014 in Jinjiang Hospital of Traditional Chinese Medicine and divided with a random number table into experimental group (with ω-3 PUFA supplementation,n =60) and control group (without ω-3 PUFA supplementation,n =60).Sixty blood samples from healthy people visiting the physical examination clinic were collected as normal controls.The serum levels of tumor necrosis factor-α (TNF-α),interleukin (IL)-1,IL-6,S100B and neuron-specific enolase (NSE) were detected with enzyme-linked immunosorbent assay (ELISA).Glasgow Coma Scale (GCS) score,Acute Physiology and Chronic Health Evaluation (APACHE) Ⅱ score and outcomes of the two groups were compared.Results The serum levels ofTNF-α,IL-1,IL-6,S100B,and NSE protein significantly increased in patients with sTBI compared with the normal controls (all P ＜ 0.05).Compared with the control group,the serum levels of inflammatory related factors (TNF-α,IL-1,IL-6) in the experimental group were significantly decreased on the 3rd day [(213.81 ±29.33) μg/L vs.(267.76 ±31.35) μg/L,(121.81 ± 10.63) μg/L vs.(152.60 ± 11.45) μg/L,(81.89 ± 8.34) μg/L vs.(106.62 ± 10.35) μg/L,all P ＜ 0.05],S100B and NSE protein expressions were significantly decreased on the 7th day [(1.32 ± 0.09) μg/L vs.(1.67 ± 0.12) μg/L,(12.57 ± 1.53) μg/L vs.(17.57 ±2.30) μg/L,both P ＜0.05].Compresd with the control group,the experimental group showed significantly higher GCS scores (9.32 ± 1.64 vs.7.14 ± 1.30,P =0.02) and significantly lower APACHE Ⅱ scores (14.37 ± 2.27 vs.17.00 ± 1.85,P =0.04) on the 14th day.Compresd with the control group,the experimental group showed lower mortality during the follow-up [11.7％ (7/60) vs.15.0％ (9/60)],but with no significant differences (P =0.49).Conclusion Supplementation of ω-3 PUFA could exert neuroprotective effect by effectively regulating inflammatory response and reducing the damages to glia and neurons in patients with sTBI,which is a promising agent for clinical application.

The biological activities i. e. antineoplastic activities and antiviral activity of the two novel kinds of interferons: hIFN-λ1 and hIFN-ε were studied and compared. First the fusion expression vector: pcDNA3.1A-hIFN-λ1-His and pcDNA3.1A-hIFN-ε-His by PCR was constructed, then the two kinds of plasmids were transfected into WI-38 (human embryonic lung cells ) with liposome. And cytopathic effect (CPE) suppression test was used to study and compare the antiviral activities of rhIFNλ1-His and rhIFN-ε-His, meanwhile MTT assay was used to detect their antineoplastic activities. It was found that, antiproliferative activity and MxA protein induction shown by rhIFN-λ1-His is more powerful than of rhIFN-ε -His. The antiviral molecular mechanisms of both hIFN-λ1 and hIFN-ε are related to MxA. The foundation for further study on the bioactivities and mechanism of action of hIFN-λ1 and hIFN-ε was established.

Objective:To analyze the characteristics of clinical manifestation, auxiliary examination and gene mutation of 3-hydroxy-isobutyryl-coenzyme A hydrolase (HIBCH) deficiency to better understand this disease.Methods:The clinical manifestations and genetic results of a patient with HIBCH deficiency were analyzed. The clinical features and genetic characteristics of HIBCH deficiency were summarized based on the literature review.Results:The proband, female, one year and four months old, was admitted to Children′s Hospital Affiliated to Zhengzhou University for “vomiting and diarrhea for 15 days, dyspnea and intermittent convulsions for 13 days after digestive tract infection”. The intelligence was normal, however, the motor development was slightly delayed before onset. Physical examination showed light coma, poor response and insensitivity to light. She also had shortness of breath, weak positive three concave signs and coarse breath sound in both lungs with sputum purrs. In addition, the muscle tension of extremities was increased. Bilateral Brudzinski′s sign, Babinski′s sign and Kernig′s sign were negative. Serum hydroxybutyryl carnitine (C4OH) was increased. Cranial magnetic resonance imaging (MRI) showed atrophy in bilateral cerebral hemispheres and abnormal symmetry signals in bilateral globus pallidus and cerebral peduncle. Novel compound heterozygous variants of HIBCH, c.489T>A (p. C163*) and c.740A>G (p. Y247C), were found in the patient, which respectively inherited from her healthy parents. Her symptoms were relieved after“cocktail”therapy and symptomatic treatment. Literature related to HIBCH deficiency published all around the world was reviewed. As a result, 17 articles, including 24 cases, had been reported. The majority of patients presented with poor feeding, dystonia and progressive motor developmental delay in early infancy. Cranial MRI showed lesions in bilateral basal ganglia. Serum C4OH concentration was elevated. And compound heterozygous or homozygous variants of HIBCH gene were found in patients with HIBCH deficiency.Conclusions:The detection of serum amino acids and acylcarnitine profiles on HIBCH deficiency was relatively specific and it was helpful to make a clear diagnosis by combining with cranial MRI and genetic tests. In this study, a case of HIBCH deficiency was confirmed, which expanded the mutation spectrum of HIBCH gene. Meanwhile, summarizing the clinical and genetic characteristics of cases reported improved understanding of HIBCH deficiency.

Objective To evaluate the clinical efficacy of bypass combined with devascularization in the treatment of esophageal variceal bleeding in patients with cirrhotic portal hypertension.Methods Clinical data of 54 patients with cirrhotic portal hypertension who underwent surgery in the Third Affiliated Hospital of Sun Yat-sen University and Yuedong Hospital of the Third Affiliated Hospital of Sun Yat-sen University from January 2008 to January 2018 were retrospectively analyzed.The informed consents of all patients were obtained and the local ethical committee approval was received.Among 54 patients,37 cases were male and 17 female,aged from 37 to 52 years with a median age of 45 years.According to the operation procedure,the patients were divided into bypass combined with devascularization group (BD group,n=22) and selective devascularization groups (SD group,n=32).The perioperative free portal vein pressure (FPP) and the venous pressure at the gastric fundus and cardiac region (GCP) were compared by t test.The incidence of postoperative complications was compared by Chi-square test.Results In BD and SD groups,the FPP was (22±5) and (22±7) mmHg (1 mmHg=0.133 kPa) respectively,significantly lower than the preoperative FPP (32±4) and (31±5) mmHg (t=-17.21,-22.54;P＜0.05);The GCP was (18±7)and (20±3) mmHg respectively,significantly lower than (30±5) and (29±3) mmHg before surgery (t=-13.39,-20.44;P＜0.05).No significant difference was observed in the postoperative GCP and FPP between two groups (t=1.44,0.95;P＞0.05).In BD group,the recurrent rate of esophageal varices and incidence of portal hypertensive gastropathy was 9％ and 18％ respectively,significantly lower than 28％ and 31％ in SD group (x2=5.31,4.89;P＜0.05).The incidence of rebleeding in BD group was 4％ and was 3％ in SD group,where no significant difference was observed (x2=0.21,P＞0.05).Conclusions Compared with selective devascularization,the combination of bypass and devascularization in treating esophageal variceal bleeding yields similar clinical efficacy,and has the advantages of lower postoperative recurrent rate of esophageal varices and incidence of portal hypertensive gastropathy.

OBJECTIVE: To explore the clinical features and genetic basis of a child with Galactosemia. METHODS: A child who had presented at the Children's Hospital Affiliated to Zhengzhou University on November 20, 2019 was selected as the study subject. Clinical data of the child was collected. Whole exome sequencing was carried out for the child. Candidate variants were validated by Sanger sequencing. RESULTS: Clinical manifestations of the child have included anemia, feeding difficulty, jaundice, hypomyotonia, abnormal liver function and coagulation abnormality. Tandem mass spectrometry showed increased citrulline, methionine, ornithine and tyrosine. Urine organic acid analysis showed increased phenyllactic acid, 4-hydroxyphenylacetic acid, 4-hydroxyphenyllactic acid, 4-hydroxyphenylpyruvate and N-acetyltyrosine. Genetic testing revealed that the child has harbored compound heterozygous variants of the GALT gene, namely c.627T>A (p.Y209*) and c.370G>C (p.G124R), which were respectively inherited from her healthy parents. Among these, c.627T>A (p.Y209*) was known as a likely pathogenic variant, while c.370G>C (p. G124R) was unreported previously and also predicted as a likely pathogenic variant(PM1+PM2_Supporting+PP3_Moderate+PPR). CONCLUSION Above discovery has expanded the spectrum of the GALT gene variants underlying Galactosemia. Patients with thrombocytopenia, feeding difficulties, jaundice, abnormal liver function and coagulation abnormality without obvious causes should be analyzed by screening of metabolic diseases in combination with genetic testing.
Child ; Female ; Humans ; Galactosemias/genetics* ; Genetic Testing ; Health Status ; Methionine ; Muscle Hypotonia ; Mutation

OBJECTIVE: To explore the genetic basis for a child with clinically suspected 3-methylcrotonyl-coenzyme A carboxylase deficiency (MCCD). METHODS: Genomic DNA was extracted from peripheral blood samples of the proband and her parents. Whole exome sequencing was used to screen pathogenic variant in the proband. Suspected variant was verified by Sanger sequencing. Impact of the variant on the structure and function of protein product was analyzed by using bioinformatic software. RESULTS: Sanger sequencing showed that the proband has carried homozygous missense c.1342G>A (p.Gly448Ala) variant of the MCCC2 gene, for which her mother was a heterozygous carrier. The same variant was not detected in her father. The variant was predicted to be pathogenic by PolyPhen-2 and Mutation Taster software, and the site was highly conserved among various species. Based on the American College of Medical Genetics and Genomics standards and guidelines, the c.1342G>A (p.Gly448Ala) variant of MCCC2 gene was predicted to be likely pathogenic(PM2+PP2-PP5). CONCLUSION The homozygous missense variant of the MCCC2 gene c.1342G>A (p.Gly448Ala) probably underlay the molecular pathogenesis of the proband. Genetic testing has confirmed the clinical diagnosis.
Carbon-Carbon Ligases/genetics* ; Child ; Female ; Humans ; Male ; Mutation, Missense/genetics* ; Pedigree ; Urea Cycle Disorders, Inborn/genetics*

OBJECTIVETo explore the differences in the clinical therapeutic effects on xerophthalmia of and deficiency between the needling technique (the combined reinforcing technique to induce warm sensation) and the reinforcing needing technique achieved by rotating needle.

METHODSA total of 54 patients of xerophthalmia were randomized into an observation group (28 cases) and a control group (26 cases). In both of the groups, the main acupoints included Cuanzu (BL 2), Sizhukong (TE 23), Taiyang (EX-HN 5) and Fengchi (GB 20); the combined acupoints were Danzhong (CV 17), Sanyinjiao (SP 6), Taixi (KI 3) and Taichong (LR 3). In the observation group, the needling technique was used and in the control group, the reinforcing needing technique achieved by rotating needle was adopted. The treatment was given once every day. 10 treatments made one course and 2 courses were required. Before and after treatment, the score of eye symptoms, tear secretion and the breakup time of tear film were observed in the two groups. The clinical therapeutic effects were compared between the two groups after treatment and in 4-week follow-up after treatment separately.

RESULTSAfter treatment, the total effective rate was 92.9% (26/28) in the observation group and was 80.8% (21/26) in the control group, without significant difference in comparison (>0.05). In 4-week follow-up after treatment, the total effective rate was 85.7% (24/28) in the observation group and was 61.5% (16/26) in the control group, indicating the significant difference in comparison (<0.05). After treatment, the differences were significant in the score of eye symptoms, tear secretion and the breakup time of tear film as compared with those before treatment in the two groups (all <0.01). After treatment, the improvements of the score of eye symptoms, tear secretion and the breakup time of tear film in the observation group were better remarkably than those in the control group, indicating the significant differences (all <0.05).

CONCLUSIONThe needling technique achieves the significant therapeutic effects on xerophthalmia of and deficiency and the recurrence rate of the disease is low.