Molecular diagnosis of coenzyme Q10 deficiency: an update

Introduction: Coenzyme Q₁₀ (CoQ) deficiency syndromes comprise a growing number of genetic disorders. While primary CoQ deficiency syndromes are rare diseases, secondary deficiencies have been related to both genetic and environmental conditions, which are the main causes of biochemical CoQ deficiency. The diagnosis is the essential first step for planning future treatment strategies, as the potential treatability of CoQ deficiency is the most critical issue for the patients.

Areas covered: While the quickest and most effective tool to define a CoQ-deficient status is its biochemical determination in biological fluids or tissues, this quantification does not provide a definite diagnosis of a CoQ-deficient status nor insight about the genetic etiology of the disease. The different laboratory tests to check for CoQ deficiency are evaluated in order to choose the best diagnostic pathway for the patient.

Expert commentary: New insights are being discovered about the implication of new proteins in the intricate CoQ biosynthetic pathway. These insights reinforce the idea that next generation sequencing diagnostic strategies are the unique alternative in terms of rapid and accurate molecular diagnosis of CoQ deficiency.     

Venous thromboembolism in patients with liver diseases

Essentials

• Emerging evidence shows that patients with liver disease are not protected from thrombotic events.
• We assessed the risk of venous thromboembolism (VTE) in patients with liver disease.
• The presence of VTE resulted in an increase in mortality for patients with liver disease.
• Hospitalized patients with moderate‐severe liver disease had low risk of VTE during admission.

Summary

Background and Aims

Patients with liver disease were traditionally believed to be protected against development of blood clots, but some studies have shown a potential increased risk of venous thrombotic complications. We assessed the risk of venous thromboembolism (VTE) in patients with liver disease.

Methods

Data in discharge reports of patients with liver disease and control patients without liver disease were analyzed from the national inpatient sample. Incidence of VTE was compared in patients with mild, moderate‐severe or no liver disease, and the impact on in‐hospital mortality and length of stay was calculated.

Results

The overall incidence of VTE for patients with no liver disease, mild liver disease and moderate‐severe liver disease was 2.7, 2.4 and 0.9 per 100 patient discharges, respectively. In the presence of VTE, in‐hospital mortality was 10.8%, 5.8%, and 21.7% for the no liver disease, mild disease and moderate‐severe liver disease, respectively. The presence of VTE resulted in an increase in mortality for patients with no liver disease (OR, 1.16; 95% CI, 1.14–1.18) and moderate‐severe liver disease (OR, 1.63; CI 95%, 1.42–1.88).

Conclusions

Patients with moderate‐severe liver disease have a lower risk of VTE than those without liver disease. Development of thrombosis during admission increased the risk of in‐hospital mortality.

     

Comparison of a Web-Based Dietary Assessment Tool with Software for the Evaluation of Dietary Records

Background

Dietary assessment in clinical practice is performed by means of computer support, either in the form of a web-based tool or software. The aim of the paper is to present the results of the comparison of a Slovenian web-based tool with German software for the evaluation of four-day weighted paper-and-pencil-based dietary records (paper-DRs) in pregnant women.

Methods

A volunteer group of pregnant women (n=63) completed paper-DRs. These records were entered by an experienced research dietitian into a web-based application (Open Platform for Clinical Nutrition, OPEN, http://opkp.si/en, Ljubljana, Slovenia) and software application (Prodi 5.7 Expert plus, Nutri-Science, Stuttgart, Germany, 2011). The results for calculated energy intake, as well as 45 macro- and micronutrient intakes, were statistically compared by using the non-parametric Spearman’s rank correlation coefficient. The cut-off for Spearman’s rho was set at >0.600.

Results

12 nutritional parameters (energy, carbohydrates, fat, protein, water, potassium, calcium, phosphorus, dietary fiber, vitamin C, folic acid, and stearic acid) were in high correlation (>0.800), 18 in moderate (0.600–0.799), 11 in weak correlation (0.400–0.599), while 5 (arachidonic acid, niacin, alpha-linolenic acid, fluoride, total sugars) did not show any statistical correlation.

Conclusion

Comparison of the results of the evaluation of dietary records using a web-based dietary assessment tool with those using software shows that there is a high correlation for energy and macronutrient content.