Objective To study the clinical significance of D‐D ,NT‐proBNP and serum lipoprotein(a) level in patients with acute ischemic stroke .Methods 150 cases of patients with acute ischemic stroke from March 2013 to March 2015 were selected as the observation group .And 50 cases of healthy physical examination were selected as control group .The levels of D‐D ,NT‐proBNP and serum lipoprotein(a) were detected in D groups .According to the nerve function defect score ,the three indexes were analyzed and studied .Results The D‐D polymer ,NT‐proBNP and serum lipoprotein(a) levels in the observation group were significantly higher than those in the control group ,the D groups were statistically significant(P<0 .05) .The levels of D‐D ,NT‐proBNP and serum lip‐oprotein(a) in the patients with severe were significantly higher than those in light and medium ,and the level of the three indexes increased gradually(P<0 .05) with the severity of the disease .Lacunar stroke with the D‐dimer ,NT‐proBNP and serum lipid pro‐tein(a) level was significantly higher than that in non lacunar group patients(P<0 .05) .Conclusion D‐D ,NT‐proBNP and serum lipoprotein(a) in the diagnosis of acute ischemic stroke patients are high clinical value ,it is worth popularizing widely .

Objective To explore the diagnostic value of serum creatine kinase isoenzyme MB (CM‐MB) and cardiac troponin I (cTnI) for myocardial injury in children with hand‐foot‐mouth disease (HFMD) .Methods A total of 80 children with HFMD (HFMD group) and 50 healthy children (control group) were enrolled from July 2012 to June 2013 .Serum levels of CK‐MB and cTnI were compared between the two groups .Results Serum levels of CK‐MB and cTnI were (38 .10 ± 19 .50)U/L and (0 .08 ± 0 .02)μg/L in HFMD group ,which were higher than control group (P<0 .05) .In HFMD group ,the positive rate of CK‐MB was 56 .3% ,higher than the 33 .8% of cTnI (P< 0 .05) .After therapy ,serum levels of CK‐MB and cTnI were both significantly de‐creased (P<0 .05) .Conclusion Combined detection of serum CK‐MB and cTnI might be with important significance for the early diagnosis of myocardial injury in children with HFMD .

Objective: To identify potential variant in a child diagnosed as infantile neuroaxonal dystrophy. Methods: Genomic DNA was extracted from peripheral blood samples from the patient and his parents and subjected to next generation sequencing. Suspected variant was verified by PCR and Sanger sequencing. Pathogenicity of the mutation was predicted by using bioinformatic software including SIFT and PolyPhen-2. Results: The child was found to carry compound heterozygous variations c. 668C>A (p.Pro223Gln) and c. 2266C>T (p.Gln756Ter) of the PLA2G6 gene, which were respectively inherited from his father and mother. c. 2266C>T has changed codon 756 (glutamine) into a stop codon, resulting premature termination of peptide chain synthesis. c. 2266C>T has not been reported previously and was predicted to be harmful. Conclusion The compound variants of c. 668C>A (p.Pro223Gln) and c. 2266C>T (p.Gln756Ter) of the PLA2G6 gene probably underlies the disease in the child. Above finding has enriched the variant spectrum of the PLA2G6 gene.

Objective To observe the clinical effects of arthroscopic reconstruction for anterior cruciate ligament ( ACL ) tear using tension-relieving technique and enhanced recovery after surgery ( ERAS ) . Methods Between May 2014 and June 2016, 80 patients with ACL tear were randomly di-vided into 2 equal groups. The experimental group was treated with arthroscopic reconstruction using hamstring tendon autograft and tension-relieving technique followed by ERAS; the control group was treated with arthroscopic reconstruction using hamstring tendon autograft only followed by conventional postoperative re-covery. The 2 groups were compared in terms of knee flexion angles at postoperative 2nd, 4th and 8th weeks, and the IKDC ( International Knee Documentation Committee ) , HSS ( Hospital for Special Surgery ) , and Lysholm scores at postoperative 3rd, 6th and 12th months. Results The 80 patients obtained an average follow-up of 12. 3 ± 1. 7 months. Arthroscopy one year postoperation revealed fine ACL growth without laxity or other complications in the experimental group. Joint stiffness appeared in one case at 2 months postoperation and ACL laxity was observed in 3 cases by arthroscopy at 12 months postoperation in the control group. The knee flexion angles at postoperative 2nd, 4th and 8th weeks, and the IKDC, HSS and Lysholm scores at postoperative 3rd, 6th and 12th months in the experimental group were significantly better than those in the control group ( P <0. 05 ) . In both groups, the IKDC, HSS and Lysholm scores at postoperative 3rd, 6th and 12th months and the knee flexion angles at postoperative 2nd, 4th and 8th weeks were all significantly im-proved than the preoperative values ( P <0. 05 ) . Conclusion In arthroscopic reconstruction for ACL tear, tension-relieving technique combined with ERAS can promote functional recovery of the knee and reduce postoperative complications, facilitating early recovery of sports function.

Objective: To analyze variations of TYR and P genes among 14 patients with clinically diagnosed oculocutaneous albinism. Methods: Potential variations of the TYR and P genes were detected by Sanger sequencing. Novel variations were predicted with bioinformatics software including SIFT and PolyPhen-2. Results: No variation was found in the TYR gene, while 9 types of variations were found in the P gene among the 14 patients, which included c. 803-3C>G (7/26), c. 1327G>A (p.Val443Ile) (5/26), c. 632C>T (p.Pro211Leu) (4/26), c. 1832T>C (p.Leu611Pro) (3/26), c. 1349C>A (p.Thr450Lys) (2/26), c. 2363C>T (p.Ser788Leu) (2/26), c. 2228C>T (p.Pro743Leu) (1/26), c. 1525A>G(p.Thr509Ala) (1/26), and c. 1349C>T(p.Thr450Met) (1/26). Only 1 heterozygous variation was detected in 2 families. c. 2363C>T (p.Ser788Leu), c. 1832T>C (p.Leu611Pro) and c. 1525A>G (p.Thr509Ala) were not reported previously and predicted as "harmful" to the protein function. Conclusion The main type of ocular albinism is oculocutaneous albinism type Ⅱ in Liuzhou region, where the most common variations of the P gene were c. 803-3C>G and c. 1327G>A (p.Val443Ile). Above finding has enriched the variation spectrum of the P gene.

OBJECTIVE: To carry out mutation analysis and prenatal diagnosis for a family affected with primary carnitine deficiency. METHODS: Genomic DNA of the proband was extracted from peripheral blood sample 10 days after birth. The 10 exons and intron/exon boundaries of the SLC22A5 gene were subjected to PCR amplification and Sanger sequencing. The proband's mother was pregnant again two years after his birth. Fetal DNA was extracted from amniocytes and subjected to PCR and Sanger sequencing. RESULTS: Tandem mass spectrometric analysis of the proband revealed low level of plasma-free carnitine whilst organic acids in urine was normal. Compound heterozygous SLC22A5 mutations c.1195C>T (inherited from his father) and c.517delC (inherited from his mother) were detected in the proband. Prenatal diagnosis has detected no mutation in the fetus. The plasma-free carnitine was normal after birth. CONCLUSION Appropriate genetic testing and prenatal diagnosis can prevent further child with carnitine deficiency. The identification of c.517delC, a novel mutation, enriched the spectrum of SLC22A5 mutations.
Cardiomyopathies ; genetics ; Carnitine ; deficiency ; genetics ; Child, Preschool ; DNA Mutational Analysis ; Female ; Humans ; Hyperammonemia ; genetics ; Muscular Diseases ; genetics ; Mutation ; Pregnancy ; Prenatal Diagnosis ; Solute Carrier Family 22 Member 5 ; genetics

OBJECTIVE: To detect variants of IVD gene among 4 neonates with suspected isovalerate acidemia in order to provide a guidance for clinical treatment. METHODS: 111 986 newborns and 7461 hospitalized children with suspected metabolic disorders were screened for acyl carnitine by tandem mass spectrometry. Those showing a significant increase in serum isovaleryl carnitine (C5) were analyzed for urinary organic acid and variants of the IVD gene. RESULTS: Four cases of isovalerate acidemia were detected, which included 2 asymptomatic newborns (0.018‰, 2/111 986) and 2 children suspected for metabolic genetic diseases (0.268‰, 2/7461). The formers had no obvious clinical symptoms. Analysis of acyl carnitine has suggested a significant increase in C5, and urinary organic acid analysis has shown an increase in isovaleryl glycine and 3-hydroxyisovalerate. Laboratory tests of the two hospitalized children revealed high blood ammonia, hyperglycemia, decreased red blood cells, white blood cells, platelets and metabolic acidosis. The main clinical manifestations have included sweaty foot-like odor, feeding difficulty, confusion, drowsiness, and coma. Eight variants (5 types) were detected, which included c.158G>A (p.Arg53His), c.214G>A (p.Asp72Asn), c.548C>T (p.Ala183Val), c.757A>G (p.Thr253Ala) and 1208A>G (p.Tyr403Cys). Among these, c.548C>T and c.757A>G were unreported previously. None of the variants was detected by next generation sequencing of 2095 healthy newborns, and all variants were predicted to be likely pathogenic based on the guidelines from the American College of Medical Genetics and Genomics. CONCLUSION The incidence of isovalerate acidemia in Liuzhou area is quite high. Screening of metabolic genetic diseases is therefore recommended for newborns with abnormal metabolism. The discovery of novel variants has enriched the mutational spectrum of the IVD gene.
Infant, Newborn ; Child ; Humans ; Acidosis ; Carnitine ; Erythrocytes ; High-Throughput Nucleotide Sequencing