Alström syndrome (ALMS) and Bardet-Biedl syndrome (BBS) are among the so-called ciliopathies and are associated with the development of multiple systemic abnormalities, including early childhood obesity and progressive neurodegeneration. Given the progressive deterioration of patients' quality of life, in the absence of defined causal treatment, it seems reasonable to identify the metabolic background of these diseases and search for their progression markers. The aim of this study was to find metabolites characteristic to ALMS and BBS, correlating with clinical course parameters, and related to the diseases progression.
View Article and Find Full Text PDFObjectives: Causative variants in genes responsible for Alström syndrome (ALMS) and Bardet-Biedl syndrome (BBS) cause damage to primary cilia associated with correct functioning of cell signaling pathways in many tissues. Despite differences in genetic background, both syndromes affect multiple organs and numerous clinical manifestations are common including obesity, retinal degeneration, insulin resistance, type 2 diabetes and many others. The aim of the study was to evaluate bone metabolism abnormalities and their relation to metabolic disorders based on bone turnover markers and presence of mandibular atrophy in patients with ALMS and BBS syndromes.
View Article and Find Full Text PDFPurpose: The study was performed to analyze the prevalence of the conjunctival ultraviolet autofluorescence (CUVAF) area in keratoconic eyes and changes caused by UVA-irradiation as a component of accelerated corneal cross-linking (aCXL).
Methods: The study group involved 20 keratoconic patients subjected to aCXL surgery in one eye. The comparative group consisted of 111 age- and sex-matched patients with healthy corneas.
Aims: Diabetic eye disease with its various manifestations as well as diabetic neuropathy may occur in patients with type 1 diabetes (T1D) after several years of diabetes duration. Pachymetry is a promising method evaluating central corneal thickness (CCT) in diabetic patients. The aim of the study was to evaluate the CCT values in children with T1D and its relationship to neurophysiological markers of diabetic neuropathy.
View Article and Find Full Text PDFIntroduction: The mental foramen (MF) is a bilateral opening localized on an anterior surface of the mandible. A precise location as well as well-defined shape, size, and number of the MF is crucial for different clinical dental procedures. The aim of this study was to determine a size and location of the MF in relation to the lower teeth using the cone-beam computed tomography (CBCT) study.
View Article and Find Full Text PDFBackground: Accessory mental foramen (AMF) is a rare anatomical variation. When accessory mental foramen is present, the nerves and vessels that go through the mental foramen (MF) must follow alternative courses and special care must be taken during dental treatment planning. The purpose of this study was to evaluate the occurrence and the location of AMF in a selected Polish population using cone-beam computed tomography (CBCT).
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