Craniofacial and cervicovertebral anomalies can occur primarily as a result of alterations in the embryonic development or secondary after birth as a result of pathologic processes or through trauma. 1 ABSTRACT Introduction: Patients with genetic syndromes were characterized by variety of skeletal craniofacial and cervicovertebral morphology. Skeletal anomalies are recognized concomitants of the various genetic syndromes. The aim of the study was to review the current literature on this topic and to present the characteristics of craniofacial and cervicovertebral morphology and subsequent anomalies in three patients with Crouzon syndrome, Treacher Collins syndrome and cleidocranial dysplasia. Materials and methods: A comprehensive electronic search was performed using PubMed via Medline, Web of Science and SCOPUS. A manual search involved references form articles retrieved for possible inclusion. There were no restrictions as to date of publication, study design or language. The search, evaluation of relevant articles, and their critical appraisal were performed by two independent judges. Discrepancies between reviewers were resolved through a consensus with a third party. Case reports: Additionally, this paper presents a radiographic analysis of craniofacial and cervicovertebral morphology in patients with cleidocranial dysplasia, Crouzon, and Treacher Collins syndromes. The most characteristic findings of cervicovertebral morphology were the presence of cervical spine fusions in all three patients. The intervertebral fusions in patients with Crouzon and Treacher Collins syndromes have been characterized with “block vertebrae”. Cervicovertebral complex of the patient with cleidocranial dysplasia is characterized by delayed mineralization of vertebral bodies (C1–C7). Results: Although craniofacial and cervicovertebral anomalies in presented syndromes have different phenotype expression, the vast majority of cases are caused by mutations in specific, syndrome-related genes (FGFR2, FGFR3, RUNX2, TCOF1, POLR1C, POLR1D). Craniofacial anomalies, that include changes in development of hard and soft tissues, were considered as traditional concomitant of presented syndromes. Apart from these changes, cervicovertebral region could also be affected. Recent reports show different changes in vertebral structure (delayed mineralization) and unphysiological relations (cervical spine fusions). Conclusion: The limitation of cervical range of motion resulting from these anomalies may have clinical significance on multidisciplinary management approach in these patients. Recent progress in dentistry resulted in better diagnostic and therapeutic options and outcomes for individuals with genetic syndromes.

Molecular monitoring of chronic myeloid leukemia patients using robust BCR-ABL1 tests standardized to the International Scale (IS) is key to proper disease management, especially when treatment cessation is considered. Most laboratories currently use a time-consuming sample exchange process with reference laboratories for IS calibration. A World Health Organization (WHO) BCR-ABL1 reference panel was developed (MR1–MR4), but access to the material is limited. In this study, we describe the development of the first cell-based secondary reference panel that is traceable to and faithfully replicates the WHO panel, with an additional MR4.5 level. The secondary panel was calibrated to IS using digital PCR with ABL1, BCR and GUSB as reference genes and evaluated by 44 laboratories worldwide. Interestingly, we found that >40% of BCR-ABL1 assays showed signs of inadequate optimization such as poor linearity and suboptimal PCR efficiency. Nonetheless, when optimized sample inputs were used, >60% demonstrated satisfactory IS accuracy, precision and/or MR4.5 sensitivity, and 58% obtained IS conversion factors from the secondary reference concordant with their current values. Correlation analysis indicated no significant alterations in %BCR-ABL1 results caused by different assay configurations. More assays achieved good precision and/or sensitivity than IS accuracy, indicating the need for better IS calibration mechanisms.

Introduction: While the influence of type 1 diabetes mellitus (T1DM) on periodontal health is well established, results of previous studies regarding the association of this metabolic disease and caries experience are rather inconsistent. The aim of this study was to assess the differences between caries status of healthy and adolescents with T1DM, as well as to determine the differences in caries experience among diabetic patients in relation to their metabolic control.Methods: Assessment of caries status was performed using the DMFT index (decayed, missing, and filled teeth). The study group (Diabetic) included 60 patients diagnosed with T1DM, aged 12-18 years, from Sarajevo Canton. This group was divided into two sub-groups: a sub-group Diabetic-W consisted of 30 patients with well-controlled glycaemia, while a subgroup Diabetic-P comprised of 30 patients with poorer glycemic control. The control group consisted of 30 age-matched metabolically healthy individuals.Results: The T1DM adolescents had a significantly higher (p < 0.01) mean DMFT score than the healthy subjects, 11.49 and 6.19 respectively. Statistically, the diabetic group had also significantly higher values of the D and M components. Concerning the metabolic control, mean DMFT score in the Diabetic-W subgroup was lower (10.57) than in the Diabetic-P subgroup (12.39), however the difference was not statistically significant.Conclusions: The results demonstrate that the T1DM patients have a higher caries experience, regardless of the degree of metabolic control. The level of untreated dental decay and missing teeth components among the diabetic adolescents indicates irregular dental attendance.

It has been shown that up to 64 percent of personal computers in office buildings are left running during after-hours. Enabling power management options such as sleep mode is a straightforward method to reduce the energy consumption of computers. However, choosing the right timeout can be challenging. A sleep timeout which is too low leads to discomfort, whereas a timeout which is too high results in poor energy saving efficiency. Having the users choose their own sleep timeout is not viable as research shows that most users disable the sleep timeout completely, or choose a suboptimal timeout. Unlike existing context based power management systems which use predefined rules, we propose a solution which can determine a personalized sleep timeout for any point in time solely based on the users behaviour. We propose multiple models which have the goal of maximizing the energy savings while minimizing discomfort. The models are tested on the computers of employees of the University of Groningen over several weeks. We analyse the results of the experiments and determine which model performs best. We can potentially save between 4.02 and 17.17 kWh per computer per year, depending on the model that used.

Mixed-lineage leukemia (MLL) is a subtype of acute myeloid leukemia with more aggressive prognosis than other subtypes. Translocations of MLL gene with other partner genes, forming the MLL-fusion proteins (MLL-FPs), are the main characteristics of MLL leukemia. Many studies have demonstrated that MLL-FPs such as: MLL-AF4, MLL-AF6, MLL-AF9, MLL-AF10, MLL-ENL, MLL-ELL, MLL-EPS15, as well as partial tandem duplication are the most common abnormalities that play significant role in MLL-rearranged leukemia. Gene expression profiles from 197 patients and 180 clinical data were downloaded from TCGA database. R statistical program has classified clinical and genomic data simultaneously according to cytogenetic abnormalities. As a result of this analysis, the most frequent 47 MLLFPs genes expression have been detected and compared with other cytogenetic abnormalities such as t(4;11), t(9;11), t(8;21), t(15;17), complex, inversion 16, trisomy 8 and cytogenetically normal AML. 35 out of 46 MLL-FPs genes presented with abnormal gene expression profile. This study showed that MLL-FPs are not just active and related with MLL, but also with other subtypes of AML.