Molecular Characterization of a β-Thalassemia Intermedia Patient Presenting Inferior Vena Cava Thrombosis: Interaction of the β-Globin Erythroid Krüppel-Like Factor Binding Site Mutation with Hb E and α+-Thalassemia

The molecular basis and hematological phenotype of adult Thai β-thalassemia intermedia (β-TI) patients encountered with inferior vena cava (IVC) thrombosis were investigated. Hematological and molecular analysis revealed a trait previously not described. The disease was caused by interaction of the β⁺-thalassemia (β⁺-thal) gene with the ?90 (C?>?T) (HBB: c.-140C?>?T) transition within the erythroid Krüppel-like factor (EKLF) binding site of the β-globin gene promoter with Hb E (HBB: c.79G?>?A) and α⁺-thalassemia (α⁺-thal). Hematological data of the patient were compared with those of heterozygous forms of these defects found in his family members and different genotype-phenotype interactions are illustrated. Globin gene haplotype analysis indicates an independent origin of this Thai β⁺-thal gene. Accurate diagnoses as well as knowledge of genotype-phenotype relationships were required for providing appropriate management of such cases.     

Comparative analysis of plasma total antioxidant capacity in patients with hyperglycemia and hyperglycemia plus dyslipidemia

AimsThe aim of this study was to measure plasma total antioxidant capacity (TAC) level and superoxide dismutase (SOD) activity in order to assess the oxidative stress status and the antioxidant defense system in patients with hyperglycemia and both hyperglycemia and dyslipidemia.Materials and methodsSixty blood samples of hyperglycemia, 60 blood samples of both hyperglycemia and dyslipidemia and 60 blood samples of normoglycemia and normolipidemia (controls) were collected into study. All samples were measured for the levels of plasma TAC and SOD by colorimetric method using microtiter-plate reader.ResultsPlasma TAC significantly decreased in patients with hyperglycemia (0.42 ± 0.1 mM) and both hyperglycemia and dyslipidemia 0.41 ± 0.1 mM) compared to those of controls (0.47 ± 0.14) (P < 0.05), whereas plasma SOD significantly increased in patients with hyperglycemia (81.0 ± 17.9 U/ml) and both hyperglycemia and dyslipidemia (83.7 ± 21.3 U/ml) compared to those of controls (73.7 ± 17.4 U/ml) (P < 0.05). However, the levels of plasma TAC and SOD had no significant difference between patients with hyperglycemia and both hyperglycemia and dyslipidemia (P > 0.05).ConclusionsThe present study showed the significant difference of plasma TAC and SOD levels in hyperglycemic patients with and without dyslipidemia compared to those of controls. There was no additive or synergistic effect in terms of decreased plasma TAC levels and elevated SOD activities between hyperglycemic patients with and without dyslipidemia.     

Timing of development of adjacent-level ossification after anterior cervical arthrodesis with plates.

BACKGROUND CONTEXT: Although the prevalence and severity of adjacent-level ossification development after anterior cervical plating has previously been described, there are no investigations regarding the timing of ossification development. PURPOSE: To determine the timing of adjacent-level ossification development and maturation and discern any differences in ossification development for patients who have a plate-to-disc distance (PDD) that is <5 mm versus =5 mm. STUDY DESIGN/SETTING: Retrospective study. PATIENT SAMPLE: One-hundred twelve visible cranial or caudal adjacent discs in 62 patients, with a minimum of 24 months follow-up, were assessed. Among them, 40 had a minimum of 36 months follow-up after surgery (range, 36-91 months). OUTCOME MEASURES: Grading system of adjacent-level ossification. METHODS: The PDD was measured on the postoperative lateral X-ray film and was used to divide the adjacent disc spaces into two groups. The first group had a PDD <5 mm, and the second group had a PDD >5 mm. The presence and severity of ossification were assessed at 3, 6, 12, and 24 months postoperatively and then annually and recorded into 4 grades: grade 0 (none) to grade 3 (complete bridging). We determined whether discs with no or mild (grade 1) ossification at a given follow-up period progressed to advanced (grade 2 or 3) by 24 months and the last follow-up (mean, 48.5 months). RESULTS: Adjacent levels with even mild ossification by 3, 6, or 12 months had a high likelihood (87.5%, 62.5%, and 37.5%, respectively) of progression to advanced ossification by 24 months. The absence of ossification in the early postoperative period was no guarantee of avoiding ossification; 23.5% and 14.9% of those with no ossification at 3 and 6 months, respectively, progressed to advanced ossification by 24 months. On the other hand, only 1.8% of those with no ossification at 12 months progressed to advanced ossification. None of the 80 levels with no or grade 1 ossification at 24 months went on to advanced ossification by the last follow-up (mean, 48.5 months). The occurrence of ossification was significantly increased for levels with a PDD <5 mm (72.1%, 49/68) compared with levels with a PDD >5 mm (45.5%, 20/44). Of 28 cases with advanced ossification, 24 (78%) developed in levels with a PDD <5 mm. CONCLUSIONS: We conclude that any adjacent-level ossification within the first 12 months postoperatively has a substantial likelihood of progression to advanced ossification by 24 months. However, those with no ossification at 12 or 24 months or mild ossification at 24 months are very unlikely to progress to advanced ossification.     

Clinical predictive score for detecting nonalcoholic fatty liver disease with significant fibrosis in patients with metabolic syndrome

Patients with metabolic syndrome are at a higher risk of nonalcoholic fatty liver disease (NAFLD) and liver fibrosis than the general population. Still, accessibility of screening method for NAFLD with significant fibrosis, such as transient elastography (FibroScan) are limited in some settings. This study aimed to develop a simple clinical predictive score for detecting NAFLD with significant fibrosis in patients with metabolic syndrome.A cross-sectional study was designed to obtain the data from medical records of all relevant patients who underwent transient elastography between January 2011 and December 2020 at Siriraj Hospital, Thailand. A liver stiffness cutoff value of 7.0 kilopascal was used to define the presence of significant liver fibrosis. To examine potential predictors, medical history and clinical data commonly assessed in routine practice were selected by following expert opinions and univariable statistical analysis. Backward and forward stepwise logistic regression was performed to acquire a final prediction model. To simplify the model, a weighted score was assigned for each categorized predictor. In addition, eligible cutoff values of the score and their predictive performances were determined.A total of 745 medical records were reviewed. The prevalence of NAFLD with significant fibrosis in patients with metabolic syndrome was 12.6%. Most clinical characteristics of patients with NAFLD with significant fibrosis and those non-NAFLD and NAFLD with no/mild fibrosis were quite disparate. The most practical model comprised globulin, aspartate transaminase, platelet count, and type 2 diabetes. It provided a good predictive performance with an area under the receiver operating characteristic curve of 0.828 (95% confidence interval [CI]: 0.782, 0.874). At the proper cutoff value, sensitivity and specificity were 76.6% (95% CI: 66.7%, 84.7%) and 72.4% (95% CI: 68.7%, 75.8%), respectively. The likelihood ratio of testing positive for NAFLD with significant fibrosis was 2.8 (95% CI: 2.34, 3.27) among patients with scores above the cutoff value.The first score for detecting of NAFLD with significant fibrosis in patients with metabolic syndrome was developed. This practical score, providing a good predictive performance, should be useful to help clinicians prioritize needs for further investigations among high-risk patients, especially in resource-limited settings.