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OBJECTIVE@#To analyze the clinical features and variants of ABCD1 gene in a Chinese pedigree affected with X-linked adrenoleukodystrophy.@*METHODS@#Clinical data of the proband were collected and analyzed. Potential variant of the ABCD1 gene were analyzed by PCR and Sanger sequencing of the proband, his parents and 100 unrelated healthy individuals.@*RESULTS@#The prominent features of the proband included cerebellar and brainstem lesions, along with increased serum level of very-long chain fatty acids. He was found to harbor a hemizygous c.1509delG (p.L504Sfs*54) variant of the ABCD1 gene, for which his mother was heterozygous. The same variant was not detected in his father and 100 healthy controls.@*CONCLUSION@#X-linked adrenoleukodystrophy has a variety of clinical manifestations. Discovery of the c.1509delG (p.L504Sfs*54), as a novel pathogenic variant of the ABCD1 gene, has enabled diagnosis and genetic counseling for this pedigree.
Subject(s)
Female , Humans , Male , Adrenoleukodystrophy/genetics , Asian People/genetics , China , Genetic Testing , Mutation , PedigreeABSTRACT
Objective To explore the early diagnosis of lower extremity deep venous thrombosis (LDVT)and evaluate the therapeutic effect of anticoagulant therapy in hospitalized patients with acute ischemic stroke. Methods According to Wells model for suspecting lower extremity deep venous thrombosis,patients with suspected LDVT were confirmed by compression ultrasonography. If the patients diagnosed with LDVT had no contraindications to anticoagulant therapy,they were treated with low molecular weight heparin(LMWH)subcutaneous injection and oral warfarin at the same time.The dosage of oral warfarin was determined by Roberts'age adjusted warfarin loading protocol.LMWH was stopped when the patients'international normalized ratio(INR)was 2.0～3.0 for two consecutive days. Results From January 2003 to August 2007,2067 cases with acute ischemic stroke were admitted to the department of neurology in Huizhou Municipal Central Hospital including 18 cases with LDVT and the incidence was 0.9%.The patients with LDVT all had paralytic extremities including 13 left legs and 5 right legs with deep vein thrombosis.All the 18 cases were treated by anticoagulant including 17 cases with oral warfarin treatment for 3 months.Symptoms in all LDVT patients were eliminated.12 cases had been observed for one year and 5 cases for three months after they stopped taking warfatin.There were no patients with pulmonary thromboembolism and LDVT recurrence. Conclusions By using Wells model for suspecting LDVT,patients with acute ischemic stroke-complicated LDVT can be timely diagnosed.The goal of prompt and enough anticoagulant can be achieved according to Roberts'age adjusted warfarin loading protocol.Because of racial difference,population difference and other unknown factors,the incidence of acute ischemic stroke patients with complicated LDVT is much lower in Huizhou.It suggests that it should be unnecessary to use LMWH in patients with acute ischemic stroke to prevent LDVT in Huizhou.
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Objective To study the relationships between polymorphisms of angiotensin-converting enzyme (ACE) gene and methylenetetrahydrofolate reductase (MTHFR) gene and pregnancy induced hypertension (PIH). Methods Ninety-nine PIH patients (PIH group), including 21 mild cases, 24 moderate cases and 54 severe cases and 54 normal pregnant women (control group) were recruited.The polymorphism of ACE gene was detected by PCR, and that of MTHFR gene was detected by PCR-RFLP. Results In PIH group, the frequencies of genotypes II, ID, and DD of ACE gene were 20.2%, 37.4% and 42.4% respectively, the frequencies of genotypes CC, CT, and TT of MTHFR gene were 53.5%, 31.3% and 15.2% respectively. There existed significant difference between genotypes DD, CT and D allele in PIH group and control group. Compared to mild PIH group, the frequencies of genotypes DD and CT in severe PIH group were significantly higher. The susceptibility to PIH in individuals with genotypes CC+DD was 2.648 times that of the controls. However, individuals with genotypes CT+II and CC+II were less susceptible to PIH in comparison to the controls. Logistic regression analysis showed that genotype DD and D allele were associated with PIH, genotype CT was associated with severe PIH. Conclusion Genotypes DD and CT may be the risk factors of PIH; genotype II may have a protective effect against PIH. There may exist some interaction between polymorphisms of ACE gene and MTHFR gene in the pathogenesis of PIH.