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1. 'The genie is out of the bottle': a qualitative study on the impact of COVID-19 on continuing professional development

Author

Sophie Soklaridis, Rowen Shier, Rabia Zaheer, Michelle Scully, Betsy Williams, Sam J. Daniel, Sanjeev Sockalingam, Linda Dang, and Martin Tremblay

Subjects
Continuing professional development, Medical education, COVID-19, Leadership, Learning, Innovation, Special aspects of education, LC8-6691, Medicine
Abstract

Abstract Background The onset of the COVID-19 pandemic catalysed a monumental shift in the field of continuing professional development (CPD). Prior to this, the majority of CPD group-learning activities were offered in-person. However, the pandemic forced the field to quickly pivot towards more novel methods of learning and teaching in view of social distancing regulations. The purpose of this study was to obtain the perspectives of CPD leaders on the impact of the pandemic to elucidate trends, innovations, and potential future directions in the field. Methods Semi-structured interviews were conducted between April-September 2022 with 23 CPD leaders from Canada and the USA. Interviews were audio-recorded, transcribed, and de-identified. A thematic analysis approach was used to analyse the data and generate themes. Results Participants characterised COVID-19 as compelling widespread change in the field of CPD. From the interviews, researchers generated six themes pertaining to the impact of the pandemic on CPD: (1) necessity is the mother of innovation, (2) the paradox of flexibility and accessibility, (3) we’re not going to unring the bell, (4) reimagining design and delivery, (5) creating an evaluative culture, and (6) a lifeline in times of turmoil. Conclusion This qualitative study discusses the impact of the pandemic on the field of CPD and leaders’ vision for the future. Despite innumerable challenges, the pandemic created opportunities to reform design and delivery. Our findings indicate a necessity to maintain an innovative culture to best support learners, to improve the healthcare system, and to prepare for future emergencies.

Published
2024
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2. Craniosynostosis associated with distal 5q-trisomy: Further evidence that extra copy ofMSX2 gene leads to craniosynostosis

Author

Jia-Chi Wang, Linda Dang, Brenda Lomax, Margot I. Van Allen, Tracy Stockley, Patrice Eydoux, Michelle Steinraths, and Siu-Li Yong

Subjects
Male, congenital, hereditary, and neonatal diseases and abnormalities, Microcephaly, Aneuploidy, Trisomy, Biology, Craniosynostosis, Craniosynostoses, Genetics, medicine, Humans, In Situ Hybridization, Fluorescence, Genetics (clinical), Homeodomain Proteins, Fibrous joint, Facies, Infant, Nucleic Acid Hybridization, Dysostosis, Anatomy, Synostosis, medicine.disease, Chromosome Banding, DNA-Binding Proteins, medicine.anatomical_structure, Karyotyping, Pfeiffer syndrome, Chromosomes, Human, Pair 5, Female
Abstract

Distal 5q-trisomy has been reported in less than 30 patients, with craniosynostosis present in five. We report two new patients with distal 5q-trisomy craniosynostosis. Patient 1 had mild Kleeblattschadel with synostosis of multiple sutures together with wide and medially deviated thumbs and halluces, indicative of Pfeiffer syndrome. Cytogenetic and CGH analyses showed a karyotype of 46,XY,der(10)t(5;10)(q33;q26.3). Patient 2 had a prominent forehead and ridging of the metopic suture. Craniosynostosis of the metopic suture was shown by CT scan. Cytogenetic and CGH analyses disclosed a karyotype of 46,XX,der(17)t(5;17)(q35.1;p13.3). Of the 22 previously reported patients, all had microcephaly and 14 had an abnormal skull shape. Our results support the previous finding that distal 5q-trisomy together with an extra copy of the MSX2 gene leads to abnormal closure of sutures and craniosynostosis. © 2007 Wiley-Liss, Inc.

Published
2007

3. Prenatally diagnosed mosaic trisomy 22 in a fetus with left ventricular non-compaction cardiomyopathy

Author

Tapas Mondal, Jia-Chi Wang, Aneal Khan, and Linda Dang

Subjects
Adult, medicine.medical_specialty, Chromosomes, Human, Pair 22, Cardiomyopathy, Aneuploidy, Trisomy, Prenatal diagnosis, Trisomy 22, Ventricular Dysfunction, Left, Pregnancy, Prenatal Diagnosis, Internal medicine, Genetics, medicine, Humans, Genetics (clinical), Fetus, medicine.diagnostic_test, Mosaicism, business.industry, medicine.disease, Endocrinology, Amniocentesis, Cardiology, Female, Cardiomyopathies, business
Published
2007

5. 4.3-Mb triplication of 4q32.1-q32.2: report of a family through two generations

Author

Thomas Fisker, Linda Dang, Ikuko Teshima, Jia-Chi Wang, and Małgorzata J.M. Nowaczyk

Subjects
Adult, Male, Biology, Craniofacial Abnormalities, Wide nasal bridge, Short nose, Gene Duplication, Intellectual Disability, Gene duplication, Genetics, medicine, Small palpebral fissures, Humans, Family, Child, Genetics (clinical), Colonic disease, Chromosome Aberrations, Family Characteristics, Hypoplastic zygoma, Macrocephaly, Child Development Disorders, Pervasive, Child, Preschool, Chromosomal region, Female, medicine.symptom, Chromosomes, Human, Pair 4
Abstract

Duplications of 4q31-qter have been rarely documented; moreover, triplications at this chromosomal region have never been described. Here we report a family through two generations (mother and three sons) with triplication of 4q32.1-q32.2. Their characteristic features include: macrocephaly, a long midface, hypoplastic zygoma, wide nasal bridge, short nose, downslanting and small palpebral fissures, and small, low-set and squared-off ears. Among the three sons, two had Hirschsprung disease, and one had constipation at birth. The phenotype of triplication of 4q32.1-q32.2 appeared to be distinct from duplications of 4q31-qter.

Published
2009

6. Molecular breakpoint mapping of 6q11-q14 interstitial deletions in seven patients

Author

Linda Dang, Mary Shago, Regan Klatt, Brenda Lomax, Ahmad S. Teebi, Małgorzata J.M. Nowaczyk, Siu-Li Yong, Lesley Turner, Jia-Chi Wang, Patrick MacLeod, and Patrice Eydoux

Subjects
Adult, Male, Pathology, medicine.medical_specialty, Chromosomes, Artificial, Bacterial, Single-nucleotide polymorphism, Biology, Bioinformatics, Short stature, Polymorphism, Single Nucleotide, Cohort Studies, Young Adult, Gene mapping, Pregnancy, Genetics, medicine, Humans, Genetics (clinical), In Situ Hybridization, Fluorescence, Sequence Deletion, medicine.diagnostic_test, Breakpoint, Infant, Newborn, Chromosome Mapping, Chromosome Breakage, medicine.disease, Hypotonia, Umbilical hernia, Chromosome Banding, Pedigree, Face, Karyotyping, Muscle Hypotonia, Premature Birth, Chromosomes, Human, Pair 6, Female, medicine.symptom, Hernia, Umbilical, SNP array, Fluorescence in situ hybridization
Abstract

Interstitial deletions involving 6q11-q14 have been reported in less than 20 patients, with the breakpoints studied by G-banding alone. We report on seven patients with 6q11-q14 interstitial deletions of variable size. The breakpoints were studied by G-banding, dual-color BAC-FISH and SNP array. The results showed the molecular breakpoints differed significantly from the ones obtained from G-banding. The breakpoints studied by BAC-FISH were consistent with the ones from SNP array. Some characteristics from this cohort are consistent with previous reports, but many typical features are lacking in our patients. The cardinal features of 6q11-q14 interstitial deletions in this cohort include: umbilical hernia, hypotonia, short stature, characteristic facial features of upslanting palpebral fissures, low set and/or dysplastic ears, high arched palate, urinary tract anomalies, and skeletal/limb anomalies.

Published
2009

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