Objective: To investigate the clinical, biochemical and genetic features of four carnitine-acylcarnitine translocase deficiency cases. Methods: Four cases diagnosed with carnitine-acylcarnitine translocase deficiency from Guangxi Maternal and Child Health Hospital were studied. DNA was extracted from dry blood filter for gene analysis. SLC25A20 gene analysis was performed in 1 case and the whole exon sequence analysis was performed in 3 cases. Results: Retrospective study on unrelated carnitine-acylcarnitine translocase deficiency patients, the age of onset was 1-28 d, the age of death were 1.5-30 d, main clinical features were hypoglycemia (4 cases), arrhythmia (2 cases), sudden death (2 cases). Biochemical test showed hypoglycemia (1.2-2.0 mmol/L) , elevated creatine kinase (955-8 361 U/L) and creatine kinase isozyme(199-360 U/L), normal or decreased free carnitine level (3.70-27.07 μmol/L) , elevated long-chain acylcarnitine (palmityl carnitine 1.85-14.84 μmol/L). The gene tests showed that all 4 cases carried SLC25A20 gene c.199-10T> G homozygous mutation, inherited from their parents. By analyzing the haplotype, we found that the mutation loci of C. 199-10T> G were all in the same haplotype. Conclusion The c.199-10T> G mutation is an important molecular cause of carnitine-acylcarnitine translocase deficiency, which has relatively high frequency in Guangxi population, and is related to the founder effect.

OBJECTIVETo explore the molecular mechanism for a boy suspected with 3-methylcrotonyl-CoA carboxylase deficiency by neonatal screening.

METHODSPCR and Sanger sequencing were used to identify potential mutations of MCCC1 and MCCC2 genes. SIFT and Polyphen-2 software was used to predict the effect of variant on the protein function and conservation of the variant across various species. Human Splicing Finder and Swiss-PdbViewer4.1.0 were applied to analyze the possible mechanism of the variant.

RESULTSFor the proband, a compound heterozygous mutation was discovered in the MCCC1 gene, namely c.539G>T (p.G180V) and c.704_711del (p.A235Vfs*4), which were inherited from his father and mother, respectively. The two mutations have disrupted the protein conformation, which in turn may impact the function of MCC protein.

CONCLUSIONThe compound heterozygous mutations of the MCCC1 gene may contribute to the 3-methylcrotonyl-CoA carboxylase deficiency manifested by the patient.

Amino Acid Sequence ; Base Sequence ; Carbon-Carbon Ligases ; chemistry ; deficiency ; genetics ; DNA Mutational Analysis ; Heterozygote ; Humans ; Infant, Newborn ; Male ; Models, Molecular ; Mutation ; Neonatal Screening ; methods ; Protein Conformation ; Sequence Homology, Amino Acid ; Urea Cycle Disorders, Inborn ; diagnosis ; genetics

OBJECTIVETo explore the technical feasibility, safety, and clinical efficacy of β-shaped Roux-en-Y reconstruction(β reconstruction) in totally laparoscopic distal gastrectomy (TLDG).

METHODSClinical data of 21 patients with gastric cancer undergoing TLDG with β reconstruction from January 2014 to May 2014 were retrospectively analyzed.

RESULTSTLDG with β reconstruction was successfully performed in all the patients. The mean time of operation and β reconstruction was (229.0±18.7) min and (27.5±4.2) min. The blood loss was (91.0±38.3) ml and number of dissected lymph node was 33.2±4.6 per patient. The length of upper and lower segment of resection from lesion was (5.9±0.4) cm and (3.2±0.8) cm. The average time to resume fluid diet, time to restore flatus and hospital stay were (2.1±0.8) d, (3.1±0.9) d and (5.9±2.4) d, respectively.

CONCLUSIONThe β reconstruction is a safe and feasible procedure for TLDG and provides satisfactory short-term efficacy.

OBJECTIVETo compare the short-term efficacy between totally laparoscopic distal gastrectomy(TLDG) with delta-shaped anastomosis (DS) and laparoscopic-assisted distal gastrectomy (LADG) with BrillrothI ( anastomosis (BI(), and to evaluate the application of DS.

METHODSBetween March 2013 and February 2014, 50 patients underwent TLDG with DS using linear staplers, and 43 patients underwent LADG with BI( using circular staplers. Clinical features and short-term efficacy of the two groups were analyzed retrospectively.

RESULTSThere were no significant differences between the two groups in terms of demographic indicators, operation time, intraoperative blood loss, number of removal lymph node, time to first flatus, incidence of complication and postoperative discharge day(all P>0.05). First-day postoperative pain was milder (3.1 ± 1.0 vs. 4.6 ± 1.4), and operative incision was shorter [(3.4 ± 0.4) cm vs. (6.9 ± 0.8) cm] significantly in TLDG with DS group(P<0.05).

CONCLUSIONTLDG with DS is safe and feasible for patients with gastric cancer, and has more advantages in cosmetic and comfort level than LADG with BI.

Anastomosis, Surgical ; Gastrectomy ; Humans ; Laparoscopy ; Lymph Node Excision ; Operative Time ; Postoperative Period ; Retrospective Studies ; Stomach ; surgery ; Stomach Neoplasms

OBJECTIVETo explore the molecular etiology for a Chinese family affected with isolated methylmalonic acidemia (MMA).

METHODSPotential mutations of MUT, MMAA and MMAB genes in the proband were screened by PCR and Sanger sequencing. The pathogenicity of identified mutations was analyzed using Polyphen2, SIFT, HSF, DNAMAN 6.0 and Swiss-PdbViewer4.1.0 software.

RESULTSTwo novel mutations of the MUT gene, including c.581C>T (p.P194L) and c.1219A>T (p.N407Y), were discovered in the proband, which were inherited respectively from his mother and father. Bioinformatics analysis suggested that both mutations were damaging. The affected codons P194 and N407, both located in the (beta, alpha) 8 barrel domain and to which the substrate methylmalonyl-CoA is bound, are highly conserved across various species. Both mutations can disrupt the space conformation of its protein product, affecting the function of the MCM protein.

CONCLUSIONThe novel mutations of MUT gene probably underlie the isolated MMA in this family.

Adult ; Amino Acid Metabolism, Inborn Errors ; enzymology ; genetics ; Amino Acid Sequence ; Animals ; Asian Continental Ancestry Group ; genetics ; Base Sequence ; China ; Female ; Humans ; Infant ; Male ; Methylmalonyl-CoA Mutase ; genetics ; Molecular Sequence Data ; Mutation ; Mutation, Missense ; Pedigree ; Point Mutation ; Sequence Alignment

OBJECTIVETo compare the short-term efficacy of modified medial (M-M) with traditional medial(T-M) approach in laparoscopic right hemicolectomy(LRHC)/or extended laparoscopic right hemicolectomy(ELRHC) for right or hepatic flexure colon cancer.

METHODSA comparative, retrospective study was performed that included all the patients scheduled for LRHC or ELRHC for right or hepatic flexure colon cancer between June 2013 and August 2014. The following factors of two groups were assessed: patient characteristics, operative details, pathology, and surgical outcomes.

RESULTSA total of 99 patients were evaluated, including 52 patients in the M-M group and 47 patients in the T-M group. Age, gender, body mass index, American Society of Anesthesiology(ASA) class, tumor location, diameter of tumor were not significantly different between the two groups. As compared to the T-M group, M-M group was associated with a significantly shorter operative time [(105.6±38.8) min vs. (138.2±39.5) min, P<0.05], less estimated mean blood loss[(38.4±12.4) ml vs. (87.2±24.6) ml, P<0.05] and lower intraoperative vascular damage rate [5.8%(3/52) vs. 25.5%(12/47), P<0.05]. There were no significant differences between these two groups in terms of intraoperative complications, CME, conversion rate, number of harvested lymph node, postoperative ileus, hospital stay, wound, lung and urinary system infections.

CONCLUSIONThe use of M-M approach in laparoscopic right hemicolectomy provides short-term benefits in operative time and estimated blood loss compared with traditional medial approach.

Case-Control Studies ; Colectomy ; Colon, Ascending ; Colonic Neoplasms ; Humans ; Ileus ; Intraoperative Complications ; Laparoscopy ; Length of Stay ; Operative Time ; Postoperative Complications ; Retrospective Studies

Objective To investigate the characteristics of the phenylalanine hydroxylase( PAH)gene muta﹣tions in patients With phenylketonuria(PKU)in Guangxi region,in order to provide clinical data for genetic counseling and prenatal gene diagnosis. Methods Thirty－seven children diagnosed as PKU in the Maternal and Children＇s Hos﹣pital of Guangxi Zhuang Autonomous Region Were enrolled in the study betWeen January 2009 and December 2017. Ve﹣nous blood Was collected and the PAH gene sequence Was determined by Sanger sequencing after amplification With the polymerase chain reaction technique. The neW gene mutations Were defined based on the national and international literature revieW and databases. MeanWhile,100 healthy individuals Were selected as the control group for gene sequen﹣cing to confirm Whether the mutation Was a neW one. Results Thirty－seven cases of PKU Were detected for 68 muta﹣tions,With the detection rate being 91. 89%(68／74). Six mutations Were identified in exon 7,Which accounted for 31. 08% of all,exon 12(18. 92%),exon 8(10. 81%)and exon 6(10. 81%)folloWed. A total of 25 different muta﹣tions Were identified Which including 14 missense mutations(56. 00%),7 nonsense mutations(28. 00%),3 splicing junction mutations(12. 00%),and 1 deletion mutation(4. 00%). The most common mutations included c. 1223G＞A (p. R408Q),c. 728G＞A(p. R243Q)and c. 721C＞T( p. R241C),accounting for 14. 86%,13. 51%,and 10. 81%, respectively. After querying international databases,including PAH mutation database and Human Gene Mutation Data﹣base and forecasting softWare,three kinds of mutations c. 314C＞ T(p. T105I),c. 583A＞ G(p. K195E),c . 851G＞A(p. C284Y)Were verified as novel PAH gene mutations. Conclusions The mutation spectrum of the PAH gene in Guangxi has been identified. And 3 kinds of mutations have been identified. This may accumulate valuable information for gene diagnosis and prenatal diagnosis of PKU in Guangxi region.

OBJECTIVETo identify the genetic mutation in ASS1 gene in a Chinese family with citrullinemia typeI, which may provide a basis for the diagnosis and genetic counseling.

METHODGenomic DNA was isolated from peripheral blood samples of the family members. Mutation analysis of ASS1 gene was carried out by PCR and Sanger sequencing. Biostructural analysis of the mutated ASS1 was completed by Phyre server.

RESULTDouble heterozygous mutations in the proband were identified: c.951delT (F317LfsX375) and c.1087C>T (R363W), which were confirmed in the proband's father and mother, respectively. It was found that the c.951delT mutation might change the formation of a dimer or a tetramer and the function of ASS1 protein.

CONCLUSIONDouble heterozygous mutations for c.951delT and c.1087C>T have been found in a proband with citrullinemia typeI. The c.951delT is a novel mutation in citrullinemia typeI, which may change the configuration of ASS1 protein and result in ASS1 dysfunction.

Argininosuccinate Synthase ; genetics ; Asian Continental Ancestry Group ; genetics ; Citrullinemia ; genetics ; DNA Mutational Analysis ; Humans ; Infant, Newborn ; Mutation