Serum metabolomics identified specific lipid compounds which may serve as markers of disease progression in patients with Alström and Bardet-Biedl syndromes.

Objectives: 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. Methods: Untargeted metabolomics of serum samples obtained from ALMS and BBS patients (study group; n = 21) and obese/healthy participants (control group; each of 35 participants; n = 70) was performed using LC-QTOF-MS method at the study onset and after 4 years of follow-up. Results: Significant differences in such metabolites as valine, acylcarnitines, sphingomyelins, phosphatidylethanolamines, phosphatidylcholines, as well as lysophosphatidylethanolamines and lysophosphatidylcholines were observed when the study group was compared to both control groups. After a follow-up of the study group, mainly changes in the levels of lysophospholipids and phospholipids (including oxidized phospholipids) were noted. In addition, in case of ALMS/BBS patients, correlations were observed between selected phospholipids and glucose metabolism parameters. We also found correlations of several LPEs with patients' age (p < 0.05), but the level of only one of them (hexacosanoic acid) correlated negatively with age in the ALMS/BBS group, but positively in the other groups. Conclusion: Patients with ALMS/BBS have altered lipid metabolism compared to controls or obese subjects. As the disease progresses, they show elevated levels of lipid oxidation products, which may suggest increased oxidative stress. Selected lipid metabolites may be considered as potential markers of progression of ALMS and BBS syndromes.

Identification of bone metabolism disorders in patients with Alström and Bardet-Biedl syndromes based on markers of bone turnover and mandibular atrophy.

Objectives: 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. Material and methods: In 18 patients (11 with ALMS and 7 with BBS aged 5-29) and in 42 age-matched (p < 0.05) healthy subjects, the following markers of bone turnover were assessed: serum osteocalcin (OC), osteoprotegerin (OPG), s-RANKL and urinary deoxypyridinoline - DPD. In addition, a severity of alveolar atrophy using dental panoramic radiograms was evaluated. Results: Lower serum OC (p = 0.0004) and urinary DPD levels (p = 0.0056) were observed in the study group compared to controls. In ALMS and BBS patients, serum OC and urinary DPD values negatively correlated with the HOMA-IR index, while a positive correlation between the OC and 25-OHD levels and a negative correlation between s-RANKL and fasting glucose concentrations were found. A significant difference in the incidence of low-grade mandibular atrophy between patients with ALMS and BBS and controls (p < 0.0001) was observed. Conclusions: The identification of bone metabolism disorders in patients with ALMS and BBS syndromes indicates the necessity to provide them with appropriate diagnosis and treatment of these abnormalities.

Conjunctival Ultraviolet Autofluorescence as a Measure of Riboflavin and Ultraviolet and Accelerated Cross-Linking Exposure in Keratoconic Patients.

PURPOSE: 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. The images of the anterior segment in both patient groups were taken using a Coroneo camera. In the study group the photos were taken before and immediately after the surgery, and 7 and 30 days following the procedure. RESULTS: Nasal and temporal autofluorescence area (AN+T) were significantly smaller in a keratoconic patients group compared to control group (p = 0.0001). Patients with the third stage of keratoconus had significantly higher AN+T (p = 0.0277) compared with individuals with lower stage keratoconus. No statistically significant CUVAF changes were observed after the aCXL procedure. In keratoconic patients with primary CUVAF undergoing aCXL, a temporary fast enlargement of the autofluorescence area was observed. CONCLUSIONS: The eyes undergoing the aCXL procedure showed no difference in the size of the CUVAF area but such patients should be in strict follow-up in order to reveal UV-related ocular surface diseases.

Central Corneal Thickness can be Related to Diabetic Peripheral Neuropathy in Children with Type 1 Diabetes.

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. METHODS: The study groups included 119 T1D children with average 5.3 years of diabetes duration and 38 age-matched controls. CCT index was measured with pachymeter in all subjects and in 19/119 of T1D patients the CCT values were referred to the ENG-EMG-SSR study results. RESULTS: In T1D patients the higher CCT values were observed as compared to healthy controls (p=0.037). Correlations between CCT values and both distal latency of the motor fibers of the median nerve (R=0.51; p=0.044) and conduction velocity of this nerve (R=-0.55; p=0.027) were noted. A conduction velocity of the sensory fibers of sural nerve correlated negatively with CCT index (R=-0.50; p=0.045) in the T1D patients. CONCLUSIONS: CCT measurement may be helpful in the referral of the asymptomatic pediatric T1D patients to assess an early stage of diabetic neuropathy.

Evaluation of Size and Location of a Mental Foramen in the Polish Population Using Cone-Beam Computed Tomography.

INTRODUCTION: 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. MATERIAL AND METHODS: In a group of 201 patients (106 males and 95 females) the CBCT images were performed using the GX CB-500 device (Gendex, USA). RESULTS: No significant differences in values of the horizontal (H) and vertical (V) diameters as well as the H:V ratio on both sides in relation to the age of participants were found. In males both average values of a horizontal diameter (p=0.031) and vertical diameter (p=0.001) were significantly higher on the right side than in the female subgroup, whereas on the left side only an average value of a vertical diameter was significantly higher in men (p=0.006) in comparison to women. Moreover, the H:V ratio was significantly lower in males on the left side (p=0.032). There were no significant relationships between age and gender of the patients (p>0.05) and the type of mental foramen on the right and left sides. CONCLUSIONS: The application of the CBCT study enabled a precise determination of the shape, size, and position of the mental foramen in relation to the neighboring anatomical structures on a representative group of the Polish patients. The results obtained may contribute to guidelines for dental procedures including anesthesia of the mental nerve and endodontic, implantology, and dental surgery with regard to the location of mental foramen depending on the sex and age of patients.

The assessment of accessory mental foramen in a selected polish population: a CBCT study.

BACKGROUND: 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). METHODS: Two hundred CBCT (105 males and 95 females) examinations were evaluated for the presence of AMFs. The location and side of AMFs were reported. The mean distance between MF and AMF was also calculated. The vertical size of MF on the side with and without AMF was measured. The obtained variables were statistically analyzed. RESULTS: AMFs were observed in 7% of the patients. There was no statistically significant difference between the appearance of AMF and sex (p > 0.05). We found no significant difference in the vertical size of MF between individuals with and without AMFs (p < 0.05). CONCLUSION: Twenty-eight AMFs (7%) were observed from 400 sides of 200 patients. AMFs occurred more often in males (18 AMFs) than in females (10 AMFs). Twenty AMFs (71.4%) were located anteriorly, and eight (28.6%) - posteriorly. Fifteen AMFs (53.6%) were on the right side and thirteen (46.4%) - on the left.