Living with COVID-19 in the community during the first wave of the pandemic: Lessons from patients for healthcare providers and policy makers

This qualitative descriptive study explores patients’ experiences of living with COVID-19, in the community, during the early stages of the pandemic. Between October 2020 and April 2021, fifteen semi-structured, video-recorded interviews were conducted, via Zoom, with participants in five Canadian provinces. Participants self-identified as having had a confirmed or suspected case of COVID-19. The constant comparative method was used to produce a thematic analysis of findings. Key findings include 1) PCR tests were not widely available in Canada, during the first wave, so many participants lacked a confirmed diagnosis and, subsequently, encountered challenges accessing specialist medical care; 2) Rapidly changing protocols around testing also impacted return to work as employers’ requirements were sometimes misaligned with public health guidelines; 3) Participants often found public health measures to be illogical, inconsistent, or sub-optimally implemented, and frequently perceived them as politically motivated rather than evidence-based; 4) some individuals with persistent symptoms had difficulty gaining acknowledgement and support for what is now more widely acknowledged to be long-COVID; and 5) The view that healthcare providers need a more nuanced approach to patients who lack a confirmed diagnosis or present with hard-to-explain symptoms was widely shared. There is the need for greater responsiveness to the lived experiences of patients with COVID-19, especially those with persistent symptoms, in developing clinical pathways and social supports. Experience Framework This article is associated with the Policy & Measurement lens of The Beryl Institute Experience Framework. (https://www.theberylinstitute.org/ExperienceFramework). Access other PXJ articles related to this lens. Access other resources related to this lens

Does Diet Offset the Effect of Veiling on Bone Mineral Density of premenopausal Indian women

Objective: To determine the effect of veiling on bone mineral density (BMD) and to evaluate its association with Vitamin D, Vitamin B12, and folate status. Materials and Methods: Design: Cross-sectional observational study. Subjects : Two hundred and forty-seven women in the perimenopausal stage in the age range between 40 and 50 years were evaluated by dual energy X-ray absorptiometry for BMD status of the spine, femur, and forearm. Serum calcium, phosphorus, alkaline phosphatase, 25 (OH) D, Vitamin D, Vitamin B12 and folate were estimated. This study group was segregated into veiled and unveiled depending upon the coverage during day time with a dark cloth. Sunlight exposure and levels of physical activity were assessed by a questionnaire. Biochemical variables and BMD at various sites across the skeleton were compared. Results: The veiled group had significant hypovitaminosis D as compared to the unveiled. The Vitamin D in the veiled group was 11.3 ± 17.2 ng/ml versus 19.9 ± 27.6 ng/ml (P < 0.001) in the unveiled. Women in the veiled group had less sunlight exposure and were less physically active (P < 0.001 and 0.05 respectively). The basic biochemical parameters were comparable in both groups. Vitamin B12 was higher in the veiled group, and folate levels were higher in the unveiled group the difference being statistically significant. Homocysteine levels were minimally higher in the veiled group. The BMD across the different skeletal sites did not differ, though the unveiled group had a slightly higher BMD at all sites apart from the trochanter. Conclusions: BMD is affected by multiple factors, and its complex interaction may explain the normal biochemical parameters of bone metabolism even in the presence of hypovitaminosis D in the veiled group

Impact of two regimens of vitamin D supplementation on calcium — vitamin D — PTH axis of schoolgirls of Delhi

Objective: To determine the efficacy of supplementation with oral vitamin D3 (cholecalciferol) on bone mineral biochemical parameters of school-going girls. Setting: Government school (government-aided) and Private school (fee paying) in Delhi. Design: Randomized controlled trial: Intervention: Cholecalciferol granules (60,000 IU) orally with water, either once in two months (two-monthly D3 group) or once a month (one-monthly D3 group) for one year. Participants: 290 healthy schoolgirls (6–17 y), 124 from Lower Socioeconomic Strata (LSES) (attending government schools) and 166 from Upper Socioeconomic Strata (USES) (attending private schools). Outcome Measures: Serum 25(OH)D, calcium, phosphorus, parathyroid hormone and alkaline phosphatase levels at 6 and 12 months after start of supplementation. Results: At baseline, 93.7% schoolgirls were vitamin D deficient [25(OH)D&#60;50 nmol/L]. While significant increase in serum calcium and decrease in alkaline phosphatase levels was noted in both groups with both interventions, PTH response was inconsistent. In LSES subjects, two monthly D3 and one-monthly D3 supplementation resulted in a significant increase in serum 25(OH)D levels by 8.3 nmol/L and 11.0 nmol/L, respectively at 6 months (P&#60;0.05). Similarly, the increase in the two intervention arms in USES subjects was 10.5 nmol/L and 16.0 nmol/L, respectively (P&#60;0.05). In both groups, this increase in serum 25(OH)D levels persisted at 12 months (P&#60;0.05). Despite supplementation with 60,000 IU of Vitamin D3 (monthly or two-monthly), only 47% were vitamin D sufficient at the end of one year. Conclusions: 60,000 IU of cholecalciferol, monthly or two-monthly, resulted in a significant increase in serum 25(OH)D levels in vitamin D deficient schoolgirls

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Not AvailableResearch Leadership Building System (RLBS) is envisaged as a single window platform for applying in various Leadership programmes /schemes. Schemes covered under RLBS are as follows: ICAR-Emeritus Scientist (ES) : The ICAR Emeritus Scientist Programme started during 4th five-year plan (1973-74) with an objective of tapping the brain and skill bank of superannuated professionals of NARES by allowing them to complete the work in hand for its conclusion, utilize their talent in teaching specialized courses and use their experience in addressing nationally important policy issues. ICAR-Emeritus Professor (EP): The ICAR Emeritus Professor Programme is a structural method of tapping Brain and skill bank of the outstanding superannuated professionals of National Agricultural Research and Education system (NARES) by utilizing their talent in teaching courses and uses their experience in addressing nationally important policy issues. ICAR- National Fellow (NF) & National Prof. (NP): The National Fellow (NF) Programme was initiated in 1978-79 with the objective to promote excellence at national level in agricultural research & education and recognize the meritorious contribution of individual agricultural scientists/teachers and facilitate their research and related activities in agriculture.Not Availabl

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Not AvailableIndian Council of Agricultural Research (ICAR) in its continued efforts towards enhancing and sustaining the standards, quality and relevance of higher agricultural education in the country has instituted International Fellowships with dual purpose of: (i) Human resource development in cutting edge technologies, and (ii) Demonstrating the strength of Indian agricultural system in the world. The objective is to develop competent human resource that are trained in the identified best laboratories in the world (for Indian candidates) and similarly expose overseas candidates to the best Indian Agricultural Universities (AUs) in the ICAR-AU system (comprising of State Agricultural Universities, Central Agricultural Universities (CAUs), ICAR-Deemed Universities, Allahabad Agricultural Institute-DU, Central Universities having agricultural faculty) for creating a pool of scientist-envoys for enhanced future co-operation.Not Availabl

Dominant negative variants in IKZF2 cause ICHAD syndrome, a new disorder characterised by immunodysregulation, craniofacial anomalies, hearing impairment, athelia and developmental delay

BackgroundHelios (encoded by IKZF2), a member of the Ikaros family of transcription factors, is a zinc finger protein involved in embryogenesis and immune function. Although predominantly recognised for its role in the development and function of T lymphocytes, particularly the CD4+ regulatory T cells (Tregs), the expression and function of Helios extends beyond the immune system. During embryogenesis, Helios is expressed in a wide range of tissues, making genetic variants that disrupt the function of Helios strong candidates for causing widespread immune-related and developmental abnormalities in humans.MethodsWe performed detailed phenotypic, genomic and functional investigations on two unrelated individuals with a phenotype of immune dysregulation combined with syndromic features including craniofacial differences, sensorineural hearing loss and congenital abnormalities.ResultsGenome sequencing revealed de novo heterozygous variants that alter the critical DNA-binding zinc fingers (ZFs) of Helios. Proband 1 had a tandem duplication of ZFs 2 and 3 in the DNA-binding domain of Helios (p.Gly136_Ser191dup) and Proband 2 had a missense variant impacting one of the key residues for specific base recognition and DNA interaction in ZF2 of Helios (p.Gly153Arg). Functional studies confirmed that both these variant proteins are expressed and that they interfere with the ability of the wild-type Helios protein to perform its canonical function—repressing IL2 transcription activity—in a dominant negative manner.ConclusionThis study is the first to describe dominant negative IKZF2 variants. These variants cause a novel genetic syndrome characterised by immunodysregulation, craniofacial anomalies, hearing impairment, athelia and developmental delay

De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Callosum, Axon, Cardiac, Ocular, and Genital Defects

International audienceCadherins constitute a family of transmembrane proteins that mediate calcium-dependent cell-cell adhesion. The extracellular domain of cadherins consists of extracellular cadherin (EC) domains, separated by calcium binding sites. The EC interacts with other cadherin molecules in cis and in trans to mechanically hold apposing cell surfaces together. CDH2 encodes N-cadherin, whose essential roles in neural development include neuronal migration and axon pathfinding. However, CDH2 has not yet been linked to a Mendelian neurodevelopmental disorder. Here, we report de novo heterozygous pathogenic variants (seven missense, two frameshift) in CDH2 in nine individuals with a syndromic neurodevelopmental disorder characterized by global developmental delay and/or intellectual disability, variable axon pathfinding defects (corpus callosum agenesis or hypoplasia, mirror movements, Duane anomaly), and ocular, cardiac, and genital anomalies. All seven missense variants (c.1057G>A [p.Asp353Asn]; c.1789G>A [p.Asp597Asn]; c.1789G>T [p.Asp597Tyr]; c.1802A>C [p.Asn601Thr]; c.1839C>G [p.Cys613Trp]; c.1880A>G [p.Asp627Gly]; c.2027A>G [p.Tyr676Cys]) result in substitution of highly conserved residues, and six of seven cluster within EC domains 4 and 5. Four of the substitutions affect the calcium-binding site in the EC4-EC5 interdomain. We show that cells expressing these variants in the EC4-EC5 domains have a defect in cell-cell adhesion; this defect includes impaired binding in trans with N-cadherin-WT expressed on apposing cells. The two frameshift variants (c.2563_2564delCT [p.Leu855Valfs∗4]; c.2564_2567dupTGTT [p.Leu856Phefs∗5]) are predicted to lead to a truncated cytoplasmic domain. Our study demonstrates that de novo heterozygous variants in CDH2 impair the adhesive activity of N-cadherin, resulting in a multisystemic developmental disorder, that could be named ACOG syndrome (agenesis of corpus callosum, axon pathfinding, cardiac, ocular, and genital defects)