ABSTRACT
OBJECTIVE@#To analyze the clinical features, biochemical characteristics and molecular pathogenesis of a girl with isovaleric acidemia.@*METHODS@#Clinical features, blood spot amino acid profiles and urinary organic acid profiles of the patient were analyzed. Targeted capture, next generation sequencing and Sanger sequencing were carried out to detect potential variant of the IVD gene.@*RESULTS@#The patient presented with poor weight gain, poor feeding, lethargy, and a "sweaty feet" odor 10 days after birth. Biochemical test suggested hyperammonemia. Blood spot amino acid profiles displayed a dramatic increase in isovalerylcarnitine (C5: 3. 044, reference range 0.04 - 0.4 μmol/L). Organic acid analysis of her urine sample revealed a high level of isovaleric glycine (669. 53, reference range 0 - 0.5). The child was ultimately diagnosed with isovaleric acidemia, and was found to harbor a paternally derived heterozygous variant c.149G>A (p.R50H) and a maternally derived heterozygous variant c.1123G>A (p.G375S) of the IVD gene. Her elder brother was a heterozygous carrier of c.1123G>A (p.G375S) variant. The c.149G>A (p.R50H) was a known pathogenic variant, while the c.1123G>A (p.G375S) variant was previously unreported.@*CONCLUSION@#The pathogenesis of the patient was delineated from the perspective of genetics, which has provided a basis for clinical diagnosis, treatment as well as genetic counseling.
Subject(s)
Child , Female , Humans , Male , Amino Acid Metabolism, Inborn Errors/genetics , Heterozygote , Isovaleryl-CoA Dehydrogenase/genetics , MutationABSTRACT
OBJECTIVE@#To explore the molecular basis for a pedigree affected with coagulation factor V (FV) deficiency.@*METHODS@#Clinical data of the patient and his family members was analyzed. Targeted capture and next-generation sequencing (NGS) and Sanger sequencing were carried out to detect potential variant of the FV gene.@*RESULTS@#The patient presented with jaundice and prolonged prothrombin time (PT) and activated partial thromboplastic time (APTT). V factor activity measured only 0.1% of the normal level, though the patient had no sign of bleeding. A paternal heterozygous variant c.653T>C (p.F218S) and a maternal heterozygous variant c.3642_3643del (p.P1215Rfs*175) were identified in the FV gene of the patient. His elder brother was a heterozygous carrier of the c.653T>C (p.F218S) variant. c.653T>C(p.F218S) was a known pathogenic variant, while the c.3642_3643del (p.P1215Rfs*175) variant was unreported previously.@*CONCLUSION@#Mutations of the FV gene probably underlie the hereditary coagulation factor V deficiency in this patient. NGS combined with Sanger sequencing has detected potential variant with efficiency and provided a reliable basis for clinical and prenatal diagnosis for this family.
Subject(s)
Aged , Humans , Male , Factor V , Factor V Deficiency , Genetics , Genetic Variation , Heterozygote , Mutation , Pedigree , PhenotypeABSTRACT
Objective To investigate the clinical effective of laparotomy or laparoscopic total mesorectal excision surgery for patients with colorectal cancer. Methods One hundred and one patients with colorectal cancer in the Beijing Jiangong Hospitalour were selected as our subjects and divided into control group and treatment group. Patients in control group were received laparotomy and patients in treatment group were performed laparoscopic total mesorectal excision surgery. Clinical effective were recorded. Results The blood loss volume,postoperative discharge time,postoperative indwelling catheter time,hospital stay in treatment group were(143. 9 ± 32. 3)ml,(3. 1 ± 1. 2)d,(3. 5 ± 1. 4)d and(11. 9 ± 2. 1)d,less than those in control group ((198. 9 ± 41. 2)ml,(5. 3 ± 1. 3)d,(6. 1 ± 1. 5)d and(16. 9 ± 2. 3)d respectively). And the differenced were significant(t = 4. 994,9. 858,6. 543,6. 593;All P 0. 05). There were no significant difference between two group in terms of NK,CD3 + ,CD4 + and CD8 + level (P > 0. 05)at before treatment. The NK,CD3 + ,CD4 + and CD8 + levels in control group after treatment were 8. 3 ± 0. 9,(64. 5 ± 4. 8)% ,(34. 3 ± 3. 0)% and(32. 8 ± 2. 4)% and those were 13. 0 ± 1. 0,(71. 9 ± 5. 1)% ,(45. 2 ± 3. 2)% and(26. 1 ± 2. 2)% in treatment group after treatment. The differences were significant( t = 5. 488,8. 481,4. 954,7. 493;P 0. 05). Conclusion The clinical effective of laparoscopic total mesorectal excision surgery is better than laparoscopic surgery.
ABSTRACT
In teaching forensic medicine as a common optional course for clinical medicine undergraduate students, we carried on the beneficial attempt in the overall set-up of teaching program, the effective implementation of the case-based and discussion-based teaching methods, the use of multimedia and internet classroom, plentiful of teaching models such as demonstration and practice, discussion forums between teachers and students etc. Through these efforts, we enhanced the teaching quality of the public elective course offorensic medicine.