Evaluation of the Impact of Metabolic Syndrome on Fibrosis in Metabolic Dysfunction-Associated Fatty Liver Disease

Background: Metabolic syndrome (MS) is a condition that consists of several disorders, and the individual impact of these disorders on metabolic dysfunction-associated fatty liver disease (MAFLD) is still not clear in a combined diagnosis of MS. In this study, we aimed to investigate the effect of MS on advanced fibrosis in patients with MAFLD.Methods: We recruited the patients from our gastroenterology out-patient clinic who were being followed up for MAFLD. MAFLD was diagnosed with liver biopsy in all patients. The frequency of MS and other metabolic parameters were also compared between groups with advanced fibrosis and groups in which fibrosis was not as advanced.Results: In total, we enrolled 424 biopsy-proven MAFLD patients to the study. In univariate analysis, individuals with greater age, body mass index (BMI), higher aspartate transaminase (AST), MS, impaired fasting glucose, hypertension, enlarged waist circumference (WC), diabetes mellitus (DM), and women had significantly increased risk for fibrosis. In multivariate analysis, it was found that DM, greater age, higher BMI, and increased AST were seen more commonly in MAFLD patients with advanced fibrosisConclusion: Greater age, a higher BMI, higher AST and a diagnosis of diabetes were more commonly associated with advanced fibrosis. However, DM was found to be the strongest predictive factor of advanced fibrosis in our cohort (OR: 2.495). Multivariate analyses did not indicate a significantly common occurrence of MS in the advanced fibrosis group, despite its important role in MAFLD pathophysiology.     

Understanding liquid–liquid equilibria in binary mixtures of hydrocarbons with a thermally robust perarylphosphonium-based ionic liquid

Binary mixtures of hydrocarbons and a thermally robust ionic liquid (IL) incorporating a perarylphosphonium-based cation are investigated experimentally and computationally. Experimentally, it is seen that excess toluene added to the IL forms two distinct liquid phases, an “ion-rich” phase of fixed composition and a phase that is nearly pure toluene. Conversely, n-heptane is observed to be essentially immiscible in the neat IL. Molecular dynamics simulations capture both of these behaviours. Furthermore, the simulated composition of the toluene-rich IL phase is within 10% of the experimentally determined composition. Additional simulations are performed on the binary mixtures of the IL and ten other small hydrocarbons having mixed aromatic/aliphatic character. It is found that hydrocarbons with a predominant aliphatic character are largely immiscible with the IL, while those with a predominant aromatic character readily mix with the IL. A detailed analysis of the structure and energetic changes that occur on mixing reveals the nature of the ion-rich phase. The simulations show a bicontinuous phase with hydrocarbon uptake akin to absorption and swelling by a porous absorbent. Aromatic hydrocarbons are driven into the neat IL via dispersion forces with the IL cations and, to a lesser extent, the IL anions. The ion–ion network expands to accommodate the hydrocarbons, yet maintains a core connective structure. At a certain loading, this network becomes stretched to its limit. The energetic penalty associated with breaking the core connective network outweighs the gain from new hydrocarbon–IL interactions, leaving additional hydrocarbons in the neat phase. The spatially alternating charge of the expanded IL network is shown to interact favourably with the stacked aromatic subphase, something not possible for aliphatic hydrocarbons.

Binary mixtures of hydrocarbons and a thermally robust ionic liquid (IL) incorporating a perarylphosphonium-based cation are investigated experimentally and computationally.     

Radiographic and Tomographic Analysis in Patients with Stickler Syndrome Type I

Objective: To further investigate the underlying pathology of axial and appendicular skeletal abnormalities such as painful spine stiffness, gait abnormalities, early onset osteoarthritis and patellar instability in patients with Stickler syndrome type I. Radiographic and tomographic analyses were organized.Methods: From a series of Stickler syndrome patients followed from early life to late childhood. Ten patients (6 boys and four girls of different ethnic origins were consistent with the diagnosis of Stickler syndrome type I ). Phenotypic characterization was the baseline tool applied for all patients and genotypic correlation was performed on four familiesResults: A constellation of axial abnormalities namely; anterolateral ossification of the anterior longitudinal spinal ligament with subsequent fusion of two cervical vertebrae, early onset Forestier disease (progressive spinal hyperostosis with subsequent vertebral fusion on top of bridging osteophytes and “Bamboo-like spine” resembling ankylosing spondylitis) and severe premature spine degeneration were evident. Appendicular abnormalities in connection with generalized epiphyseal dysplasia were the underlying aetiology in patients with Intoeing gait and femoral anteversion, early onset severe osteoarthritis of the weight bearing joint. Remarkable trochleo-patellar dysplasia secondary to severe osteoarthritis causing effectively the development of patellar instability was additional pathology. Mutation of COL2A1 has been confirmed as the causative gene for Stickler syndrome type IConclusion: We concluded that conventional radiographs and the molecular determination of a COL2A1 in patients with (Stickler syndrome type I) are insufficient tools to explain the reasons behind the tremendous magnitude of axial and appendicular skeletal abnormalities. We were able to modify the criteria of the clinical phenotype as designated by Rose et al in accordance with the novel axial and appendicular criteria as emerged from within our current study.     

Young woman with hypophosphatasia: A case report

Hypophosphatasia is a rare inherited disease defined by teeth and bone mineralization impairment leading to depletion of tissue non‐specific alkaline phosphatase. We define a young woman diagnosed with hypophosphatasia (after several times alkaline phosphatase levels were low) was discovered following femoral fracture. A 30‐year‐old woman who presented for a history of early permanent teeth loss during the last 5 years and HPP‐like symptoms in family history and bone radiograph verified bowing, deficient mineralization, and symmetrical subtrochanteric stress fractures of femurs was referred to our clinic for further management. Blood test findings defined raised phosphorus levels on two occasions at 6.2 and 5.7 mg/dl and insufficient 25‐hydroxy vitamin D level. HPP early diagnosis and adequate treatment, depending on the clinical symptoms along with laboratory tests, could be effective in decreasing the suffering of the disease and side effects.