Introduction: Combining a successful career with family planning has become increasingly important in recent years. However, maintaining a relationship, deciding upon the optimal time for pregnancy and other family planning decisions can still be quite challenging, especially for junior doctors whose training is long and demanding. Currently, women for man important part of the medical workforce, and there is noticeable feminization in migration. However, little is known about the personal characteristics of junior doctors in Europe and how these play a role in their decision to migrate. Methods: Survey of psychiatric trainees in 33 European countries, exploring how personal characteristics, such as gender, relationship status and parenthood, impact their attitudes toward migration. Results: 2,281 psychiatric trainees in Europe took part in the study. In this sample, the majority of psychiatric trainees were in a relationship, but only one quarter had children, although there were variations across Europe. Both men and women indicated personal reasons as their top reason to stay. However, women ranked personal reasons as the top reason to leave, and men financial reasons. Single woman were the most likely of all subgroups to choose academic reasons as their top reason to leave. Interestingly, when women were in a relationship or had children, their attitudes toward migration changed. Conclusions: In this study, a low number of psychiatric trainees in Europe had children, with differences across Europe. These findings raise awareness as to the role of parental conditions, which may be favoring or discouraging parenthood in junior doctors in different countries.
23 September 2024 in Slovenian Journal of Public Health
Introduction: Stigmatising attitudes towards mentally ill people are present among healthcare professionals. The aim of the study was to evaluate medical students' attitudes in five medical schools from Albania, Bulgaria, Moldova, Romania and Serbia and to determine if psychiatry clerkship improves these attitudes. Methods: In the first stage, the study included students from the first and final years of medical school; in the second stage, only final-year students were included; The Mental Illness Clinicians' Attitude Scale (MICA-2) and the Attribution Questionnaire (AQ-9) were used in this study. The total sample comprised 1,526 medical students in the first stage and 614 in the second stage. Results: The analysis of the average AQ-9 and MICA-2 scores between countries revealed significant differences (p<0.05). Multivariable analysis showed that female students were 30% more likely to have elevated AQ-9 scores than male students (p=0.029). Final-year students had a significantly lower chance of having a higher MICA-2 score compared to first-year students (OR=0.7; p<0.05). Conclusions: Psychiatry clerkship contributes to a decrease in the level of stigmatising attitudes among medical students. Further research is required to assess the curricula to achieve better results in reducing stigma among future doctors.
Introduction: Enzyme replacement therapy is already recognized as the gold standard of care for patients with Gaucher disease. Taliglucerase alfa is one of the three alternatives recommended for treatment of Gaucher disease in children and adults.Aim: This study aims to evaluate the long-term efficacy and safety of Taliglucerase alfa in children and adolescents with Type 1 Gaucher disease.Patients and methods: Over a six-year period, we monitored the efficacy of continuous treatment in 10 patients by assessing various parameters, including hemoglobin concentration, platelet count, liver and spleen volume, bone mineral density, glucosylsphingosine level, chitotriosidase activity, and growth parameters. Safety was evaluated by immunogenicity and adverse event monitoring.Results: The mean age of patients was 13.4 ± 3.6 years and the treatment duration was 60.24 ± 13.4 months. From baseline to end line the parameters change as follows: hemoglobin concentration improved from 12.7 (±1.3) to 14.6 (±1.5) and platelet count from 180 (±74) to 198 (±79). The spleen volume, was reduced by 46% (p = 0,007). The chitotriosidase activity decreased from 4,019.7 (±3,542.0) nmoles/ml/hr to 2,039.5 (±1,372.2) nmoles/ml/hr (46% reduction). Glucoylsphingosine level dropped from 119.2 (±70.4) ng/ml to 86.2 (±38.1) ng/ml, indicating a reduction of 28%. Bone mineral density Z-score, improved from −1.47 (±1.76) to −0.46 (±0.99) (69.7% reduction). Out of the 1,301 total administrations, our patients reported only 37 (2.8%) infusion-related adverse events which were mild and transitory.Conclusion: Taliglucerase alfa exhibits good efficacy and a safe profile in the treatment of children and adolescents with Type 1 Gaucher disease.
1 January 2025 in Anthropological Researches and Studies
Objectives. The aim of this study is to investigate the Quality of Life in children with neurodevelopmental disorders aged 3-6 years old through the perspective of their parents. Material and methods. A cross-sectional descriptive study was conducted. The Kiddy-KINDLR parents’ version questionnaire was administered to 80 parents of children with neurodevelopmental disorders for 3 months from January to March 2024 and also to a control group of 72 parents of children with typical development. The Kiddy-KINDLR questionnaire is divided into 6 main sub-scales, each investigating different dimensions of the global well-being during the past week: Physical well-being, Emotional Well-being, Self-esteem, Family, Friends, School, and an additional sub-scale with important questions regarding the general functioning. Statistical analysis of the data was carried out using the SPSS 22. Results. Children were diagnosed with different neurodevelopmental disorders, most of them being (43%) diagnosed with autism spectrum disorder, 15% with ADHD, 19% with speech and language disorder, 21% with intellectual disability, and 3% with Spastic Cerebral Palsy. Data analysis showed a slightly statistically significant relationship between the children diagnosed with autism spectrum disorder and low levels of emotional well-being (p = 0.047), struggling at school, and facing difficulties with their peers (p = 0.048). Almost all of the children with neurodevelopmental disorders faced significant challenges in family interactions. Conclusions. Assessment of Quality of Life in children with neurodevelopmental disorders can identify what is important to them and to their families and provide the initial information for the policymakers to assess their needs. Keywords: neurodevelopmental disorder, quality of life, Albania, parents.
White-Sutton syndrome (WHSUS) is a rare neurodevelopmental disorder caused by heterozygous variants in the POGZ gene. With slightly over 100 reported cases, the diagnosis of WHSUS remains challenging due to its variable and non-specific clinical features. We report a novel case of WHSUS carrying a heterozygous de novo variant in the POGZ gene and with characteristic clinical features including global developmental delay, autism spectrum disorder, generalised myoclonic epilepsy, hypotonia and distinct dysmorphic features. Notably, the patient also presented with mild gastrointestinal symptoms and was diagnosed with celiac disease (CD) based on elevated tissue transglutaminase IgA levels, confirmatory duodenal biopsy and HLA typing. Based on the recent evidence implicating chromatin remodelling genes in CD and the known role of the POGZ protein as a regulator of chromatin remodelling, we cautiously propose, for the first time, to our knowledge that the POGZ gene may contribute to the pathogenesis of the celiac disease, providing evidence of a possible association between White-Sutton syndrome and CD. Comprehensive functional, genetic and epidemiological studies are needed to explore further this potential association, which may broaden the clinical spectrum of WHSUS and improve the understanding of CD-related epigenetic factors.