Variability of CATCH-22 symptome complex within the framework of 22q11.2 deletion syndrome

Chromosomal pathology is one of the most common causes of congenital malformations. The CATCH-22 symptom complex is most often associated with a microdeletion of chromosome 22, upon detection of which it is customary to diagnose DiGeorge syndrome, a known primary immunodeficiency or syndrome of innate errors of immunity. According to our data on the frequency of occurrence among all chromosomal abnormalities, DiGeorge’s syndrome takes second place in the Sverdlovsk region after Down’s syndrome, but its diagnosis is not simple due to varying severity of clinical manifestations, as well as different forms of the chromosome 22 defects. Along with several typical variants of 22q11 microdeletions, there duplications of critical regions are also reported, accompanied by immunodeficiency and other symptoms of CATCH-22. The effectiveness of diagnosing chromosomal abnormalities both in pre- and postnatal period largely depends on the grouping criteria of the patients with suspected chromosomal abnormalities, and on the methods used to identify hereditary pathology. In our study, we analyzed and compared the results of studies of 23 patients with various rearrangements of the 22q11.2 region, which were observed by a geneticist and clinical immunologist. The paper presents data on the polymorphism of phenotypes associated with rearrangements of the 22q11.2 region with an analysis of pathomorphological manifestations depending on the type of structural anomaly, i.e, del22q11.2, or dup22q11.2. The results of analysis demonstrate importance of different diagnostic options for laboratory studies of microdeletion and microduplication syndromes associated with immune-dependent pathology. We also compared the results of molecular genetic diagnostics and phenotypic manifestations in deletions and duplications of the 22q11.2 region. To identify the rearrangements of 22q11.2 region, two different methods were used – Prenatal BoBs and multiplex ligase-dependent probes’ amplification (MLPA). In particular, the both methods were used in the same patient to verify diagnosis, thus enabling to show differences in their efficiency. It was concluded that 22q11.2 deletion syndrome exhibits wide heterogeneity in phenotypic traits: neurological and immunological manifestations, anomalies in musculoskeletal development and internal organs, skull deformities and facial dysmorphia. Each clinical case was unique, requiring careful analysis of clinical manifestations. It is necessary to have a wide range of laboratory options for molecular genetic verification of the diagnosis.

Catch-22: Token Women Trying to Reconcile Impossible Contradictions between Organisational and Societal Expectations

Extending tokenism theory, and Kanter’s work on numerical representation within organisations, we emphasise the societal context of gender inequality in order to understand token women’s lived experiences at work. Based on analysis of 29 in-depth interviews in a multinational (MNC) situated in the distinctive socio-institutional setting of Saudi Arabia, the article expands Kanter’s typology of roles, to capture token assimilation in a context-embedded way. In particular, we explore the interaction of a seemingly Western MNC espousing liberal values, rules and norms with the enduring patriarchal and traditional context of Saudi Arabia. Further adding texture to Kanter’s theory, this study reveals that the organisational context cannot be seen as fundamentally neutral and inevitably interacts with the societal context, resulting in unique manifestations of tokenism.

Beyond the Lockdown Binary: Family Caregiver Needs for Creative Solutions During a Global Pandemic

As COVID-19 lockdowns began in Canada last spring, family caregivers (FCGs) of people living with dementia (PLWD) found themselves facing a catch-22: they and their family members were often most at risk of severe outcomes should they contract the virus, yet the public health measures put in place also detrimentally affected their ability to continue providing care. To understand the nuances of caregiver experiences during the pandemic, we conducted 9 focus groups with 19 FCGs of PLWD in the Calgary region in summer 2020. Caregivers reported negative outcomes resulting from decreased services for both themselves and the PLWD, including increased isolation, poor mental health, and accelerated dementia progression. Caregivers also emphasized the importance thinking beyond the binary of either locking down or opening up; rather, we must find creative solutions to safely continue providing supports to caregivers. This presentation explores FCG suggestions for balancing COVID-19 risk against caregiver needs.

“Catch-22” in Starting a New Science Journal (Editorial)

In our continuous effort to consolidate the journal DRC Sustainable Future, we encounter a somewhat similar situation, a kind of Catch-22, applicable to publishing in a recently launched science journal. Our periodical is peer-reviewed and free of all publication and processing charges (so, it is not a predatory journal), and it has a sound international editorial board. Nevertheless, authors refrain from submitting their manuscripts to the journal, as it has not yet been entered in the database of Scopus or ISI Web of Science. In other words, so far, the journal has not earned an impact factor, and it cannot receive one wPagiet:heo16u1/t164publishing articles of broad interest to the scientific community. For publishing such papers, one needs high rating of the journal, translated in an impact factor. This dilemma is, indeed, difficult to solve. Our dedicated authors, scientists from 11 countries of 5 continents made it possible to publish 2 volumes with 2 issues per year, a total of over 40 papers, which received numerous citations. We are confident that our co-workers will get rewarded soon when the journal will be included in the Scopus and/or ISI Web of Science database. Our present issue expands our targeted realm of sustainability to the fields of transportation, architecture, education, and sustainability of the process of innovation. Editors of DRC Sustainable Future are hopeful that the fourth issue of the journal contains several interesting papers, appealing to a wide segment of the scientific community. Our second issue of volume 2 of DRC Sustainable Future benefits of both interesting topics and famous authors.

Technicians and Dentists: A catch 22 situation?

Dental technicians who regularly receive poor quality impressions and records are often faced with professional and ethical concerns as to how to handle the situation. They may choose to complete the task to the best of their abilities. Other options are to alter the casts to try to improve the situation and then complete the prescription, contact the dentist and discuss the issue, contactthe patient, contact the medical aid, report the practitioner to the HPCSA, or refuse to do the work. Their latter actions have potentially negative implications for them, and will certainly sour working relationships. At worst, they may lose the dentist’s support. This paper explores ways in which dentists and techniciains can foster collegial and mutually beneficial relationships from early on in their careers. This will not only promote better communication, and improve the quality of work produced by them, but it will also serve the best interests of their patients and the profession as a whole.