Glycogen storage diseases (GSDs) are a group of rare inherited metabolic disorders caused by enzyme deficiencies in glycogen catabolism. The more common type, GSD type Ia, is caused by glucose-6-phosphatase deficiency and often complicated by gout from hyperuricemia. Here, the authors report a rare case of a tophi wound caused by GSD type Ia in a Chinese patient. Difficulties in this case included the control of abnormal blood markers, especially uric acid; removal of tophi deposited in the tissues; restoration of hand function after wound healing; and patient adherence to treatment and follow-up. A multidisciplinary team was set up consisting of experts from the authors' wound care center and the departments of endocrinology, orthopedics, and rehabilitation. The wound healed in 53 days and was followed up for about 7 months. During follow-up, the patient's hand function returned to normal, and no new tophi formed. Because GSDs are a congenital lifelong condition, regular follow-ups are especially important.
To investigate the effect of CYP2C9 polymorphism on phenytoin metabolism, PCR and direct sequencing were used to detect genotype the CYP2C9 gene of 65 unrelated healthy volunteers. And the influence of genotypes of wildtype CYP2C9*1/*1 and heterozygous mutant CYP2C9*1/*3 on the phenytoin metabolism was also investigated using high performance liquid chromatography (HPLC). 5 healthy volunteers were detected as carriers of CYP2C9*3 mutant allele (1075A-C), as heterozygous mutant CYP2C9*1/*3, no mutant alleles of CYP2C9*4(1076T-C)and CYP2C9*5(1080C-G) as detected. And no homozygous mutant was detected in the studied subjects. It was shown that the mean metabolic rate of phenytoin in wildtype CYP2C9*1/*1 carriers ware 2 times higher than that of heterozygous mutant CYP2C9*1/*3 carriers, and this was a statistically significant difference. The present association study of the CYP2C9 genotype and phenytoin metabolism showed that CYP2C9*3 mutant allele induces a decreased enzymatic activity and slow metabolism of phenytoin, which was in significant difference when compared with CYP2C9 wild type. The incidence of the CYP2C9*3(1075A-C)in Chinese population is rather high, about 8%~10%, therefore, CYP2C9*3 mutant allele should be detected whenever CYP2C9 plays an important role in drug metabolism.
The optimal method for the reduction and fixation of posterior malleolar fracture (PMF) remains inconclusive. Currently, both of the indirect and direct reduction techniques are widely used. We aimed to compare the reduction quality and clinical outcome of posterior malleolar fracture managed with the direct reduction technique through posterolateral approach or the indirect reduction technique using ligamentotaxis. Patients with a PMF involving over 25% of the articular surface were recruited and assigned to the direct reduction (DR) group or the indirect reduction (IR) group. Following reduction and fixation of the fracture, the quality of fracture reduction was evaluated in post-operative CT images. Clinical and radiological follow-ups were performed at 6 weeks, 3 months, 6 months, 12 months, and then at 6 month-intervals postoperatively. Functional outcome (AOFAS score), ankle range of motion, and Visual Analog Scale (VAS) were evaluated at the last follow-up. Statistical differences were compared between the DR and IR groups considering the patient demographics, quality of fracture reduction, AOFAS score, and VAS. Totally 116 patients were included, wherein 64 cases were assigned to the DR group and 52 cases were assigned to the IR group. The quality of fracture reduction was significant higher in the DR group (P = 0.038). In the patients who completed a minimum of 12 months' follow-up, a median AOFAS score of 87 was recorded in the DR group, which was significantly higher than that recorded in the IR group (a median score of 80). The ankle range of motion was slightly better in the DR group, with the mean dorsiflexion restriction recorded to be 5.2° and 6.1° in the DR and IR group respectively (P = 0.331). Similar VAS score was observed in the two groups (P = 0.419). The direct reduction technique through a posterolateral approach provide better quality of fracture reduction and functional outcome in the management of PMF over 25% of articular surface, as compared with the indirect reduction technique using ligamentotaxis. NCT02801474 (retrospectively registered, June 2016, ClinicalTrails.gov).
Purpose: Infected nonunion after open reduction internal fixation (ORIF) is a serious complication. The aim of this study was to evaluate the usefulness of serum D-dimer for preoperative diagnosis of infected nonunion. Patients and methods: Patients undergoing debridement and external fixation for infected nonunion (n=32) and replacement of internal fixation due to aseptic failure (n=34) were enrolled and compared in this retrospective study. The optimum cutoff value of D-dimer for identification of infected nonunion was determined by calculating the Youden J statistic. The sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV) of four preoperative laboratory parameters—serum D-dimer level, white blood cell (WBC) count, erythrocyte sedimentation rate (ESR), and C-reactive protein (CRP)—for diagnosis of infected nonunion were compared. Results: Serum D-dimer level was significantly higher in patients with infected nonunion than in patients with aseptic nonunion: 2.62 mg/mL (range, 0.13–11.90 mg/mL) vs 0.35 mg/mL (range, 0.07–6.46 mg/mL; p <0.001). WBC count, CRP, and ESR demonstrated sensitivity of 12.5% (95% CI: 4.08–29.93), 40.6% (95% CI: 24.22–59.21), and 56.3% (95% CI: 37.88–73.16), respectively, and specificity of 94.1% (95% CI: 78.94–98.97), 88.2% (95% CI: 71.61–96.16), and 85.3% (95% CI: 68.17–94.46), respectively. Using the Youden index, 1.70 mg/mL was determined as the optimal threshold value for serum D-dimer for the diagnosis of infected nonunion. The sensitivity and specificity of serum D-dimer (>1.70 mg/mL) were 75.0% (95% CI: 56.25–87.87) and 91.2% (95% CI: 75.19–97.69). Conclusions: Serum D-dimer level may be useful for preoperative prediction of infected nonunion in patients after ORIF. Keywords: fracture-related infection, laboratory test, preoperative prediction, nonunion
Objective To determine whether angiotensin Ⅱ type 1 receptor andcytochrome P450 2C9 (CYP2C9) gene single nucleotide polymorphisms is related to blood pressure-lowing response to angiotensinⅡreceptor type 1 antagonist treatment, specifically, in response to treatment with irbesartan. Methods Seventy-six patients with mild to moderate essential hypertension were enrolled in and treated with irbesartan(150 mg,qd) for 8 weeks. Polymorphisms: angiotensin Ⅱ type 1 receptor 1166A/C, 573 T / C, -521 C/T, CYP 2C9 1075A/C, 1080C/G were detected and the association between genotype with blood pressure reduction were analyzed.Results Individuals with the AT1R 573 T allele showed a greater reduction in systolic blood pressure than those homozygous for C allele [(16.47±11.75) vs (7.44±7.50) mm Hg, P0.05]. AT1R 1166A/C, -521 C/T and CYP 2C9 1075A/C, 1080C/G were not related to the response to treatment.Conclusion Polymorphism AT1R 573 T/C was related with the blood pressure-lowering response to antihypertensive treatment with irbesartan. AT1R gene polymorphisms might play greater role than those of CYP 2C9 gene in individual difference of response to irbesartan.
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