A Critical Overview of the Construct of Supportive Care Need in the Cancer Literature: Definitions, Measures, Interventions and Future Directions for Research.

The growing amount of evidence about the role of supportive care in enhancing cancer patients' outcomes has made healthcare providers more sensitive to the need for support that they experience during cancer's trajectory. However, the lack of a consensus in the definition of supportive care and lack of uniformity in the theoretical paradigm and measurement tools for unmet needs does not allow for defined guidelines for evidence-based best practices that are universally accepted. Contemporary cancer literature confirms that patients continue to report high levels of unmet supportive care needs and documents the low effectiveness of most of the interventions proposed to date. The aim of this critical review is to consolidate the conceptual understanding of the need for supportive care, providing definitions, areas of expertise and a careful overview of the measurement tools and intervention proposals developed to date. The possible reasons why the currently developed interventions do not seem to be able to meet the needs, and the issues for future research were discussed.

The Consequences of the Pandemic on Medical Students' Depressive Symptoms and Perceived Stress: A Repeated Cross-Sectional Survey with a Nested Longitudinal Subsample.

This study aimed to explore the impact of the pandemic on medical students' mental health in Italy using a repeated cross-sectional survey with a nested longitudinal subsample (first timepoint: 2018; second: 2020/2021). Three research questions (RQs) were investigated. Study 1 (longitudinal sub-sample) explored whether medical students had higher levels of depressive symptoms and stress during the pandemic compared with a pre-pandemic period (RQ1) and what variables were associated with these conditions during the pandemic adjusting for baseline levels (RQ2). Study 2 (repeated cross-sectional data) aimed to examine whether medical students had higher levels of these conditions during the pandemic compared with their same-year peers during a pre-pandemic period (RQ3). In Study 1, higher levels of depressive symptoms and stress were shown during the pandemic (RQ1). Multivariable models highlighted associations between poor mental health and worsening of the judgment of medical school choice, worsened psychological condition due to the pandemic, economic repercussions due to the pandemic, and baseline levels of symptoms (RQ2). In Study 2, our findings reported higher levels of depressive symptoms and stress during the pandemic, also adjusting for other variables (RQ3). In conclusion, depressive symptoms and stress were greater during the pandemic. The most relevant variables were pandemic-related items and medical school choice judgment.

The Impact of COVID-19 on Mental Health in Medical Students: A Cross-Sectional Survey Study in Italy.

Background: This study aimed to assess the impact of the COVID-19 pandemic in terms of the prevalence of anxiety, depression and stress symptoms in Italian medical students and to identify the associated factors. Design and Methods: A cross-sectional online survey was administered to second-sixth year medical students of the University of Torino, collecting data on the students' sociodemographics, COVID-19 exposure, anxiety, depression and stress symptoms. Three hierarchical regressions adjusted for age, gender and year of study were executed. Results: The sample size was 1359. The prevalence of anxiety, depression symptoms, moderate perceived stress and severe perceived stress was 47.8%, 52.1%, 56.2% and 28.4%, respectively. The factors associated with mental health symptoms were: being a woman, a family history of psychiatric disorders, living off-site, competitive/hostile climates and unsatisfying friendships among classmates, poor relationships with cohabitants, negative judgment of medical school choice, fear of COVID-19 infection, feelings of loneliness, distressing existential reflections, and a worsening psychological condition related to the pandemic. Being in the fourth or sixth year constituted a protective factor for depression symptoms. Conclusions: Mental health in medical students was associated with both COVID-independent and COVID-related factors. Accessibility to effective interventions must be increased to counteract these changes.

Partial trisomy of the long arm of chromosome 1: prenatal diagnosis, clinical evaluation and cytogenetic findings. Case report and review of the literature.

Partial trisomy of the long arm of chromosome 1 is a relatively rare cytogenetic anomaly. Its phenotype has still not been completely defined, because of the cytogenetic heterogeneity of the cases so far described. We report a prenatal case of partial 1q trisomy associated with partial monosomy 4q, secondary to balanced maternal translocation t(1;4). The trisomic segment extended from 1q31.1 to qter and the monosomy 4q was from 4q35.2 to qter. The phenotypic anomalies found by post-mortem and autopsy examinations were compared with those of similar cases reported in the literature. We performed standard cytogenetics and fluorescence in situ hybridization. Cerebral ventriculomegaly, present in our case, seemed to be a constant feature in partial 1q trisomies, so this cerebral malformation could be considered as the main echographic marker for this chromosomal imbalance and trisomy 1q should be added to the list of chromosomal abnormalities associated with ventriculomegaly.

Patau syndrome with long survival in a case of unusual mosaic trisomy 13.

We report a 12-year-old patient with Patau syndrome, in whom two cell lines were present from birth, one with total trisomy 13 due to isochromosome (13q), and one with partial trisomy 13. A cytogenetic re-evaluation at 9 years of age brought to light in skin fibroblasts a third cell line, partially monosomic for chromosome 13. The derivatives (13) present in the three cell lines were characterized through fluorescence in situ hybridization (FISH) experiments with suitable probes; the results suggested a sequence of rearrangements which beginning from an isochromosome (13q) could have led to the other two derivatives. We report the clinical data at birth and at the age of 12; at this age pigmentary lesions with phylloid pattern were noted. Cytogenetic findings of the chromosomal analyses on different tissues, including skin fibroblasts from differently pigmented areas, are also reported.

Pure partial trisomy of 6p12.1-p22.1 secondary to a familial 12/6 insertion in two malformed babies.

We describe two malformed infants with trisomy 6p12.1-p22.1 due to 12/6 interchromosomal insertion. The phenotypic data observed in these patients are compared chiefly with a case cytogenetically similar described by Villa et al. [A. Villa, E.G. Gomez, L. Rodriguez, R.H. Rastrollo, M.E. Martinez Tallo, M.L. Martinez-Frias, Interstitial tandem duplication of 6p: a case with partial trisomy (6)(p12p21.3), Am. J. Med. Genet. 90 (2000) 369-375]. All three infants are trisomic for a genomic segment which largely overlaps that reported as duplicated in previous cases, but with the addition of a more proximal segment, extending from 6p12 to 6p21. We suggest that some of their phenotypic anomalies are due to the trisomy of this chromosomal region. We also speculate on the possible role played by the TFAP2B (Transcription Factor AP2-beta) gene, which is one of the genes mapped on the duplicated segment.

Identification of a mutant allele of the androgen receptor gene in a family with androgen insensitivity syndrome: detection of carriers and prenatal diagnosis.

We report the results of a molecular study of a large family segregating the complete form of the Androgen Insensitivity Syndrome (CAIS) in several members from three generations. We identified the mutant allele by Polymerase Chain Reaction (PCR) amplification of the short tandem repeat (CAG)n, highly polymorphic in the population, present in the first exon of the androgen receptor (AR) gene. In this family four different alleles were detected and one of these showed a perfect segregation with the disease. This study enabled us to identify the heterozygous females in this family. We think that this simple, indirect test, is also suitable for prenatal diagnosis of Morris' syndrome when the mother is heterozygous for the size of the short tandem repeat and one affected subject in the family may be studied.