Predictors of controlled attenuation parameter in metabolic dysfunction.

BACKGROUND & AIMS: Hepatic fat content can be non-invasively estimated by controlled attenuation parameter (CAP) during transient elastography. The aim of this study was to examine the determinants and predictors of CAP values in individuals with metabolic dysfunction. METHODS: We enrolled 1230 consecutive apparently healthy individuals (Liver-Bible-2022 cohort) with ≥3 metabolic dysfunction features. CAP was measured by Fibroscan. CAP determinants and predictors were identified using backward stepwise analysis and introduced in generalized linear models. RESULTS: Participants were predominantly males (82.9%), mean age was 53.8 ± 6.4 years, 600 (48.8%) had steatosis (CAP ≥ 275 dB/m), and 27 had liver stiffness measurement (LSM) ≥ 8 kPa. CAP values correlated with LSM (p < 10-22). In multivariable analysis, fasting insulin and abdominal circumference (AC) were the main determinants of CAP (p < 10-6), together with body mass index (BMI; p < 10-4), age, diabetes, triglycerides, ferritin, and lower HDL and thyroid stimulating hormone (TSH; p < 0.05 for all). In a subset of 592 participants with thyroid hormone measurement, we found an association between higher free triiodothyronine levels, correlating with lower TSH, and CAP values, independent of TSH and of levothyroxine treatment (p = 0.0025). A clinical CAP score based on age, BMI, AC, HbA1c, ALT, and HDL predicted CAP ≥ 275 dB/m with moderate accuracy (AUROC = 0.73), which was better than that of the Fatty Liver Index and of ALT (AUROC = 0.70/0.61, respectively) and validated it in multiple cohorts. CONCLUSION: Abdominal adiposity and insulin resistance severity were the main determinants of CAP in individuals with metabolic dysfunction and may improve steatotic liver disease risk stratification. CAP values were modulated by the hypophysis-thyroid axis.

Liver Involvement in Patients with Rare MBOAT7 Variants and Intellectual Disability: A Case Report and Literature Review.

The membrane-bound O-acyltransferase domain-containing 7 (MBOAT7) protein is an acyltransferase catalyzing arachidonic acid incorporation into lysophosphatidylinositol. Patients with rare, biallelic loss-of-function variants of the MBOAT7 gene display intellectual disability with neurodevelopmental defects. The rs641738 inherited variant associated with reduced hepatic MBOAT7 expression has been linked to steatotic liver disease susceptibility. However, the impact of biallelic loss-of-function MBOAT7 variants on liver disease is not known. We report on a 2-year-old girl with MBOAT7-related intellectual disability and steatotic liver disease, confirming that MBOAT7 loss-of-function predisposes to liver disease.

Therapeutic management of hereditary angioedema due to C1 inhibitor deficiency.

Hereditary angioedema (HAE) due to C1 inhibitor (C1-INH) deficiency is a rare genetic disease characterized by recurrent swellings of the subcutaneous and submucosal tissues that can manifest as cutaneous edema, abdominal pain and laryngeal edema with airway obstruction. These symptoms have a significant impact on patients' quality of life. The reduction in C1-INH function leads to uncontrolled activation of the contact system and generation of bradykinin, the mediator of increased vascular permeability and edema formation. In the past, few treatment options were available; however, several new therapies with proven efficacy have recently become available to treat and prevent HAE attacks, such as plasma-derived and recombinant C1-INHs that replace the deficient protein, bradykinin receptor antagonist (icatibant) that blocks bradykinin activity and kallikrein inhibitor (ecallantide) that prevents bradykinin release. Such therapies can improve disease outcome. This article reviews the therapeutic management of HAE, which involves the treatment of acute attacks and prophylaxis.

"Ten-point" 3D cephalometric analysis using low-dosage cone beam computed tomography.

OBJECTIVE: The aim of this study was to combine the huge amount of information of low dose Cone Beam CT with a cephalometric simplified protocol thanks to the latest informatics aids. Lateral cephalograms are two-dimensional (2-D) radiographs that are used to represent three-dimensional (3-D) structures. Cephalograms have inherent limitations as a result of distortion, super imposition and differential magnification of the craniofacial complex. This may lead to errors of identification and reduced measurement accuracy. The advantages of CBCT over conventional CT include low radiation exposure, imaging quality improvement, potentially better access, high spatial resolution and lower cost. MATERIALS AND METHODS: This study assessed cephalometric 2D and 3D measurements and the analysis of CBCT cephalograms of the volume and centroid of the maxilla and mandible, in 10 clinical cases. RESULTS: With a few exceptions the linear and angular cephalometric measurements obtained from CBCT and from conventional cephalograms did not differ statistically (p>0.01). There was a correlation between the variation in the skeletal malocclusion and growth direction of the jaws, and the variation in the spatial position (x, y, z) of the centroids and their volumes (p<0.01). CONCLUSIONS: The 3D cephalometric analysis is easier to interpret than 2D cephalometric analysis. In contrast to those made on projective radiographies, the angular and linear measurements detected on 3D become real, moreover the fewest points to select and the automatic measurements made by the computer drastically reduced human error, for a much more reliable reproducible and repeatable diagnosis.

Straight-wire appliances: standard versus individual prescription.

In this article the individual patient (IP) appliance is described. It consists of 250 options of bracket and band variations as the straight wire appliances. Increasing the bracket capabilities means using an increasing number of brackets, each with a specific design created for a treatment situation. The objective of IP appliance is to eliminate wire bending from orthodontic treatment and improve the treatment results. To manage this technique, a computer software is needed. Internet offers significant possibilities in managing each patient by patient basis. The clinician is required to make the diagnosis and treatment plan before ordering the appliance. Two clinical cases are described with the aim to present the advantages of this technique.