This study focuses on the experiences of professionals working with refugees and asylum seekers in the North of Italy. In the last years, professionals who work in this sector have been exposed to an increasing risk of physical and emotional malaise because of the number of challenges they daily manage. A qualitative study has been conducted with the aim of exploring the resource and the fatigue factors of professionals, in relation to their state of well-being or discomfort. Eight focus groups with multi-professional teams were held in eight refugee centres, for a total of 28 professionals involved (16 males and 12 females). The results allowed the description of three different professional profile conditions Fatigued, Idealizing and Engaged.The aim of this investigation is to examine the structure and the content of different social groups' representations of the human microbiome. We employed a non-probabilistic sample comprising two groups of participants. The first group (n = 244) included university students. The second group included lay people (n = 355). We chose a mixed-method approach. The data obtained were processed using IRaMuTeQ software. The results allow us to identify the anchoring and objectification processes activated by the two different groups of interviewees. The results could be useful to those in charge of implementing campaigns aimed at promoting health literacy.We report a patient with developmental delay, extremely short stature, small hands, dysmorphic facial features, hearing loss, and epilepsy carrying a de novo 2.76-Mb deletion of 2q36.3q37.1, including TRIP12 and NPPC. TRIP12 haploinsufficiency causes developmental delay with isolated dysmorphic facial features, whereas NPPC haploinsufficiency causes short stature and small hands. This is the first report of a unique phenotype, which is secondary to a microdeletion encompassing TRIP12 and NPPC.No genetic association with recurrent pregnancy loss (RPL) caused by embryonic aneuploidy has been found. Recent studies have indicated that the common genetic variant rs2305957, surrounding the PLK4 gene, contributes to mitotic-origin aneuploidy risk during human early embryo development.  https://www.selleckchem.com/products/zidesamtinib.html  The decrease in meiosis-specific cohesin causes predivision of sister chromatids in the centromere and chromosome segregation errors. STAG3 is a component of cohesin and is a meiosis-specific gene. Our case-control study included 184 patients with RPL whose previous products of conception (POC) exhibited aneuploidy and 190 fertile control women without a history of miscarriage. We performed a genetic association study to examine the genotype distribution at PLK4 (rs2305957) and STAG3 in patients with RPL caused by aneuploidy compared with controls. Regarding STAG3, SNPs with a minor allele frequency (MAF) threshold > 0.05 that were predicted to be binding sites of transcription factors and that showed significant associations in expression quantitative trait locus (e-QTL) analysis were selected. No significant differences in the MAF or distribution in any model of PLK4 (rs2305957) and 5 selected tag SNPs in STAG3 were found between the patients and controls. A further genome-wide association study is needed since a combination of genetic risk alleles might be useful in predicting future age-dependent RPL caused by aneuploidy.Gitelman syndrome (GS) is caused by biallelic mutations in SLC12A3 as an autosomal recessive trait. A patient with a de novo 16q12.2q21 microdeletion showed clinical features of GS. SLC12A3 included in the deletion was analyzed, and a rare missense variant (c.1222A>C [p.N406H]) was identified as hemizygous. Consequently, GS was caused by the revealed SLC12A3 variant owing to chromosomal microdeletion.Background Meningioma is the most common primary intracranial tumor. It is usually slow growing and benign, and surgery is the main treatment modality. There are limited data on return to work following meningioma surgery. The objective of this study was to determine the patterns of sick-leave rate prior to surgery, and up to 2 years after, in patients compared to matched controls. Methods Data on patients ages 18 to 60 years with histologically verified intracranial meningioma between 2009 and 2015 were identified in the Swedish Brain Tumor Registry (SBTR) and linked to 3 national registries after 5 matched controls were assigned to each patient. Results We analyzed 956 patients and 4765 controls. One year prior to surgery, 79% of meningioma patients and 86% of controls were working (P less then .001). The proportion of patients at work 2 years after surgery was 57%, in contrast to 84% of controls (P less then .001). Statistically significant negative predictors for return to work in patients 2 years after surgery were high (vs low) tumor grade, previous history of depression, amount of sick leave in the year preceding surgery, and surgically acquired neurological deficits. Conclusion There is a considerable risk for long term sick leave 2 years after meningioma surgery. Neurological impairment following surgery was a modifiable risk factor increasing the risk for long-term sick leave. More effective treatment of depression may facilitate return to work in this patient group.Background English Cancer Patient Experience Survey (CPES) data show patients with brain cancer report the least-positive experiences of general practice support. We aimed to understand these findings by identifying the issues described in qualitative survey feedback and suggest how care may be improved. Methods We reviewed 2699 qualitative comments made to open questions about what was good or might be improved about National Health Service care between 2010 and 2014. We identified 84 (3%) specific comments about general practice care and used open coding and framework analysis to develop a thematic framework. Results We identified 3 key themes and 12 subthemes first, the experience of initial diagnosis by a general practitioner (GP), including apparent complexity of making the diagnosis, apparent slowness in referral for investigation, referral made by patient or family, delay in receiving scan results, and whether the GP quickly identified the problem and referred to a specialist; second, the experience of care and support from the general practice, including lack of supportive response from the GP, lack of follow-up care from the GP, lack of family involvement by the GP, lack of GP knowledge about management, and whether the GP responded in a supportive way to the diagnosis; and third, the experience of overall coordination in care, including lack of communication between the hospital and general practice and good communication about the care plan.