Failure of Tooth Development: Prevalence, Genetic Causes and Clinical Features

In dental practice may be encountered a wide variability in the clinical dental phenotype of tooth number. Failure of tooth development at the bud stage causes tooth agenesis and reduction in tooth number in the dental arch which involves various complications. Tooth agenesis is one of the most common developmental anomalies of human permanent dentition and tends to run in families, may aggregate within families, suggesting a genetic cause. Tooth agenesis can occur in association with a variety of craniofacial syndromes, but it is also found as an isolated trait (familial or sporadic). Other tooth anomalies, such as tooth shape and size, delayed eruption of teeth, malposition, short roots or taurodontism, have been noted in association with non-syndromic tooth agenesis as well. Both the deciduous and permanent dentitions may be affected by missing teeth. Variations in the number of missing teeth can be determined by a mutation in one gene, by mutations in multiple genes, induced by local or systemically acting environmental factor, caused by a combination of gene mutations and environmental factors acting together, or by damage to chromosomes. As the number of missing teeth increases, so does the severity of clinical consequences and the impact on oral health–related quality of life

Health systems sustainability in the framework of rare diseases actions. Actions on educational programmes and training for professionals and patients

Protection of early development contributes to health of next generations. Congenital anomalies (and other adverse reproductive outcomes) are an important public health issue and early indicator of public health risks, as early development is influenced by many risk factors (e.g., nutrition, lifestyles, pollution, infections, medications, etc). Effective primary prevention requires an integrated “One Health” approach, linking knowledge  and action. This requires surveillance of health events and potential health-damaging factors, science-based risk analysis, citizens’ empowerment and education of health professionals. From the policy standpoint, joint budgeting mechanisms are needed to sustain with equity intersectoral actions (involving policy domains of health, social affairs, education, agriculture and environment). States should devote resources to strengthen registries and systematic data collection for surveillance of congenital anomalies, to better inform national prevention strategies. Investing in primary prevention based on scientific evidence is essential to support sustainable and resilient health systems and sustainable development of the society

Challenging diagnoses of tetraploidy/diploidy and trisomy 12: utility of first-tier prenatal testing methods

Introduction: Chromosome mosaicism and low-grade mosaicism present a challenge for diagnosis in the era of SNP array and NGS. Tetraploidy is a rare numerical chromosomal abnormality characterized by the presence of four copies of each chromosome. The prevalence of tetraploidy/diploidy mosaicism cases is extremely rare in the human population. Accurate estimates of the frequency of this chromosomal anomaly are lacking due to its classification as an extremely rare and difficult-to-detect condition.Methods: In this report, we describe two cases involving challenging diagnoses of tetraploidy/diploidy and trisomy 12. We utilized advanced genetic testing techniques, including SNP array, to examine the chromosomal abnormalities in these cases. We compared the results from SNP array to conventional G band karyotyping to assess the utility of first-tier prenatal testing methods.Results:Our analysis revealed two cases of tetraploidy/diploidy and trisomy 12 with atypical presentations. SNP array analysis provided higher resolution and more precise information about the chromosomal anomalies in these cases compared to conventional G band karyotyping. Additionally, the prevalence of tetraploidy/diploidy mosaicism was confirmed to be extremely rare in the population.Discussion: Low-level mosaicism is difficult to diagnose, and in many cases, it has traditionally been identified through techniques such as G band karyotype or FISH. Microarray has become an invaluable diagnostic tool for detecting chromosomal abnormalities, offering high-resolution insights. However, it may not always be able to detect rare occurrences of tetraploidy or tetraploidy/diploidy mosaicism. As a result, it is recommended to perform a G band karyotype analysis after obtaining a negative microarray result before considering other diagnostic methods with a potentially higher yield of diagnosis. For the detection of low-level mosaicism, combined diagnostic methods should be considered. The diagnosis of mosaicism is a multistep process that can be time-consuming, often requiring the application of more than one diagnostic technique. This approach is crucial for accurate diagnosis and comprehensive patient care. Further research is warranted to better understand the underlying mechanisms of these rare chromosomal anomalies and to develop more effective diagnostic strategies for challenging cases

”DET ÄR ETT VÄLDIGT KÄNSLIGT ÄMNE JUST DET DÄR MED ALKOHOL” - En kvalitativ studie om hemtjänstpersonals arbete med brukare som har alkoholproblem

Syftet med vår uppsats är att belysa hemtjänstpersonalens erfarenheter av att arbeta med äldre brukare som har alkoholproblem. Processer som berör personalens förhållande till brukarnas självbestämmande lyfts fram, likaså vilka hanteringsstrategier som används för att hantera de dilemman och “svåra” brukare de möter i sitt arbete. I studien uppmärksammas även vilket stöd hemtjänstpersonalen har och anser sig behöva för att kunna utföra sitt arbete och tillgodose brukarnas behov. Resultat och analys bygger på sex semistrukturerade intervjuer med kommunal hemtjänstpersonal. Det faktum att antalet äldre kommer att öka inom de närmaste decennierna och likaså äldre med mer komplexa vårdbehov, väckte vårt intresse för vidare beforskning av ämnet. Det i studien uttryckta behov som hemtjänstpersonalen efterfrågade kan enligt vår uppfattning inte längre förbises utan bör tas på allvar

Novel Mixed-Ligand Copper(I) Complexes: Role of Diimine Ligands on Cytotoxicity and Genotoxicity

Novel tetrahedral copper-(I) mixed-ligand complexes of the type [Cu-(X)-(N 29N)-(PCN)], 3-10, where X = Cl or Br, N 29N = 2,2'-bipyridine (bipy), 1,10-phenanthroline (phen), 5,6-dimethyl-1,10-phenanthroline (dmp), and dipyrido-[3,2-d:2',3'-f]-quinoxaline (dpq), and PCN = tris-(2-cyanoethyl)-phosphine, have been synthesized and characterized by NMR, ESI-MS, and X-ray diffraction on two representative examples, [CuCl-(phen)-(PCN)]\ub7DMF (5\ub7DMF) and [CuBr-(dpq)-(PCN)]\ub72DMF (10\ub72DMF). Cu-(I) complexes were evaluated for their in vitro antitumor properties against a panel of human cancer cell lines, including cisplatin- and multidrug-resistant sublines. The most effective complex, [CuCl-(dpq)-(PCN)] (9), exhibited nanomolar cytotoxicity toward both sensitive and resistant cancer cells, but it significantly inhibited the growth of cultured normal cells. In vitro DNA assays and single cell gel electrophoresis revealed that 9 induced DNA fragmentation resulting in cell apoptosis. In parallel, fluorescence in situ hybridization (FISH) micronucleus assay attested high levels of genotoxicity following treatment of peripheral blood lymphocytes with complex 9, suggesting that the potential risk posed by diimine metal complexes should be carefully reconsidered