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2.
J Affect Disord ; 2024 Aug 25.
Artículo en Inglés | MEDLINE | ID: mdl-39191308

RESUMEN

BACKGROUND: Parents have reported increased symptoms of depression and anxiety during the COVID-19 pandemic. This study evaluated changes in mental health and addiction (MHA)-related health service use among mothers and other birthing parents during the COVID-19 pandemic. METHODS: We conducted a repeated cross-sectional study using health administrative data in Ontario, Canada. The population included all mothers and birthing parents (≥1 child aged 1-18, no children <1 to exclude postpartum parents) between January 2016 and December 2021. We compared rates of MHA-related outpatient physician visits, hospitalizations, and emergency department (ED) visits during COVID-19 (March 2020-December 2021) to pre-COVID-19 (pre-March 2020). RESULTS: MHA-related outpatient visit rates increased by 17 % (rate ratio (RR) 1.17, 95 % CI 1.16-1.18) during COVID-19. Monthly utilization rates remained higher than expected across the COVID-19 period. MHA-related ED visit rates remained lower than expected during COVID-19, while MHA-related hospitalization rates returned to expected levels by August 2020. The largest relative increases in MHA-related outpatient visits during COVID-19 were in mothers and other birthing parents living in higher income (RR 1.20, 95 % CI 1.19-1.22) or urban areas (RR 1.20, 95 % CI 1.18-1.21), with children aged 1-3 years (RR 1.23, 95 % CI 1.20-1.25) and with no history of MHA-related health service use (RR 1.20, 95 % CI 1.19-1.21). LIMITATIONS: This study only captured physician-delivered MHA-related health service use. CONCLUSIONS: The COVID-19 pandemic was associated with an increase in MHA-related outpatient visits among mothers and other birthing parents. These findings point to the need for improvements in mental health service access.

3.
JAMA Netw Open ; 7(8): e2429345, 2024 Aug 01.
Artículo en Inglés | MEDLINE | ID: mdl-39196560

RESUMEN

Importance: Physicians, especially surgeons, delay family building, and face age-related complications of pregnancy. Objective: To explore factors that are associated with family building decisions among residents and fellows and to understand their thoughts on accessing family building supports, workplace culture, and attitudes toward family planning. Design, Setting, and Participants: This qualitative study was conducted from May to August 2022 at postgraduate training sites across Ontario, Canada. Participants included 29 postgraduate learners. Purposive sampling from 80 eligible trainees was used to ensure diverse demographics, including sex, specialty, and institution. Semi-structured individual interviews lasting 30 to 90 minutes were conducted over a virtual platform. Participants were asked to share their thoughts and experiences on family planning in a medical career, family building goals, the role of mentorship, and knowledge of current family planning supports. Main Outcomes and Measures: Themes associated with residents' perception of family planning within the context of a medical career. Results: Twenty-nine trainees, ages 25 to 37 years old (22 [75.9%] were female, 26 [89.7%] were heterosexual; median [range] age, 30 [25-37] years) from various institutions took part in this study. The participants included both 24 residents (82.8%) and 5 fellows (17.2%) and 8 (27.6%) were from surgical specialties, 3 (10.3%) from pediatrics and subspecialties, 4 (13.8%) from internal medicine and subspecialties, 2 (6.9%) from obstetrics and gynecology, 3 (10.3%) family medicine, 2 (6.9%) from anesthesia, and 7 (24.1%) other medical specialties. Four themes were identified: (1) tension between role as a physician and role as a parent; (2) impact of role models and mentorship on family planning choices; (3) family building is discouraged during training, especially in surgical specialties; and (4) need for tangible family planning supports in training. Conclusions and Relevance: In this qualitative study of residents' and fellows' perspectives on family building, trainees did not perceive residency and fellowship programs as supportive for individuals who want to family build during training leading to personal and professional dissonance. Trainees identified that more tangible supports, transparent information, and mentorship may improve a trainees' feeling of support.


Asunto(s)
Servicios de Planificación Familiar , Internado y Residencia , Investigación Cualitativa , Humanos , Femenino , Adulto , Masculino , Servicios de Planificación Familiar/educación , Ontario , Actitud del Personal de Salud , Becas , Mentores/psicología
4.
Clin Invest Med ; 47(2): 4-11, 2024 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-38958478

RESUMEN

PURPOSE: The COVID-19 pandemic has resulted in a significant diagnostic, screening, and procedure backlog in Ontario. Engagement of key stakeholders in healthcare leadership positions is urgently needed to inform a comprehensive provincial recovery strategy. METHODS: A list of 20 policy recommendations addressing the diagnostic, screening and procedure backlog in Ontario were transformed into a national online survey. Policy recommendations were rated on a 7-point Likert scale (strongly agree to strongly disagree) and organized into those retained (≥75% strongly agree to somewhat agree), discarded (≥80% somewhat disagree to strongly disagree), and no consensus reached. Survey participants included a diverse sample of healthcare leaders with the potential to impact policy reform. RESULTS: Of 56 healthcare leaders invited to participate, there were 34 unique responses (61% response rate). Participants were from diverse clinical backgrounds, including surgical subspecialties, medicine, nursing, and healthcare administration and held institutional or provincial leadership positions. A total of 11 of 20 policy recommendations reached the threshold for consensus agreement with the remaining 9 having no consensus reached. CONCLUSION: Consensus agreement was reached among Canadian healthcare leaders on 11 policy recommendations to address the diagnostic, screening, and procedure backlog in Ontario. Recommendations included strategies to address patient information needs on expected wait times, expand health and human resource capacity, and streamline efficiencies to increase operating room output. No consensus was reached on the optimal funding strategy within the public system in Ontario or the appropriateness of implementing private funding models.


Asunto(s)
COVID-19 , Pandemias , SARS-CoV-2 , Humanos , COVID-19/epidemiología , COVID-19/diagnóstico , Ontario/epidemiología , Encuestas y Cuestionarios , Liderazgo , Tamizaje Masivo , Atención a la Salud , Masculino , Femenino , Personal de Salud
6.
J Obstet Gynaecol Can ; 46(6): 102463, 2024 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-38631434

RESUMEN

OBJECTIVES: It is unclear if use of cesarean delivery in people with inflammatory bowel disease (IBD) is guideline-concordant. We compared the odds of cesarean delivery among primiparous individuals with IBD versus without, overall, and by disease characteristics, as well as time to subsequent delivery. METHODS: Retrospective matched population-based cohort study between 1 April 1994 and 31 March 2020. Primiparous individuals aged 15-55 years with IBD were matched to those without IBD on age, year, hospital, and number of newborns delivered. Primary outcome was cesarean delivery versus vaginal delivery. Multivariable conditional logistic regression analyses were performed to estimate the odds of cesarean delivery among individuals with and without IBD as a binary exposure, and a categorical exposure based on IBD-related indications for cesarean delivery. Time to subsequent delivery was evaluated using a Cox proportional hazard model. RESULTS: We matched 7472 individuals with IBD to 37 360 individuals without (99.02% match rate). Individuals with IBD were categorised as having perianal (PA) disease (IBD-PA, n = 764, 10.2%), prior ileal pouch-anal anastomosis (n = 212, 2.8%), or IBD-Other (n = 6496, 86.9%). Cesarean delivery rates were 35.4% in the IBD group versus 30.4% in their controls (adjusted odds ratio 1.27; 95% CI 1.20-1.34). IBD-ileal pouch-anal anastomosis had a cesarean delivery rate of 66.5%, compared to 49.9% in IBD-PA and 32.7% in IBD-Other. There was no significant difference in the rate of subsequent delivery in those with and without IBD (adjusted hazard ratio 1.03; 95% CI 1-1.07). CONCLUSIONS: The higher risk of cesarean delivery in people with IBD reflects guideline-concordant use. Individuals with and without IBD were equally likely to have a subsequent delivery with similar timing.


Asunto(s)
Cesárea , Enfermedades Inflamatorias del Intestino , Humanos , Femenino , Cesárea/estadística & datos numéricos , Adulto , Embarazo , Estudios Retrospectivos , Enfermedades Inflamatorias del Intestino/epidemiología , Enfermedades Inflamatorias del Intestino/cirugía , Adulto Joven , Adolescente , Persona de Mediana Edad , Complicaciones del Embarazo/epidemiología , Estudios de Cohortes , Factores de Riesgo
7.
CMAJ ; 196(8): E265, 2024 Mar 03.
Artículo en Inglés | MEDLINE | ID: mdl-38438151
10.
BMJ Open ; 14(1): e079479, 2024 01 25.
Artículo en Inglés | MEDLINE | ID: mdl-38272559

RESUMEN

OBJECTIVES: The COVID-19 pandemic resulted in rapid changes to the delivery of maternal and newborn care. Our aim was to gain an understanding from parents and healthcare professionals (HCPs) of how the pandemic and associated public health restrictions impacted the peripartum and postpartum experience, as well as longer-term health and well-being of families. DESIGN: Qualitative study through focus groups. SETTING: Ontario, Canada. PARTICIPANTS: HCPs and parents who had a child born during the COVID-19 pandemic. INTERVENTIONS: Semistructured interview guide, with questions focused on how the pandemic impacted their care/their ability to provide care, and strategies to improve care and support now or in future situations with similar healthcare restrictions. OUTCOME MEASURES: Thematic analysis was used to describe participant experiences and recommendations. RESULTS: We included 11 HCPs and 15 parents in 6 focus groups. Participants described their experiences as 'traumatic', with difficulties in accessing prenatal and postpartum services, and feelings of distress and isolation. They also noted delays in speech and development in children born during the pandemic. Key recommendations included the provision of partner accompaniment throughout the course of care, expansion of available services for young families (particularly postpartum), and special considerations for marginalised groups, including access to technology for virtual care or the option of in-person visits. CONCLUSIONS: Our findings may inform the development of healthcare system and organisational policies to ensure the provision of maternal and newborn care in the event of future public health emergencies. Of primary importance to the participants was the accommodation of antenatal, intrapartum and postpartum partner accompaniment, and the provision of postpartum services.


Asunto(s)
COVID-19 , Pandemias , Embarazo , Niño , Recién Nacido , Humanos , Preescolar , Femenino , Familia , Padres , Ontario/epidemiología
11.
Pediatr Crit Care Med ; 25(2): 92-105, 2024 Feb 01.
Artículo en Inglés | MEDLINE | ID: mdl-38240534

RESUMEN

OBJECTIVES: To implement an early rehabilitation bundle in two Canadian PICUs. DESIGN AND SETTING: Implementation study in the PICUs at McMaster Children's Hospital (site 1) and London Health Sciences (site 2). PATIENTS: All children under 18 years old admitted to the PICU were eligible for the intervention. INTERVENTIONS: A bundle consisting of: 1) analgesia-first sedation; 2) delirium monitoring and prevention; and 3) early mobilization. MEASUREMENTS AND MAIN RESULTS: Primary outcomes were the duration of implementation, bundle compliance, process of care, safety, and the factors influencing implementation. Secondary endpoints were the impact of the bundle on clinical outcomes such as pain, delirium, iatrogenic withdrawal, ventilator-free days, length of stay, and mortality. Implementation occurred over 26 months (August 2018 to October 2020). Data were collected on 1,036 patients representing 4,065 patient days. Bundle compliance was optimized within 6 months of roll-out. Goal setting for mobilization and level of arousal improved significantly (p < 0.01). Benzodiazepine, opioid, and dexmedetomidine use decreased in site 1 by 23.2% (95% CI, 30.8-15.5%), 26.1% (95% CI, 34.8-17.4%), and 9.2% (95% CI, 18.2-0.2%) patient exposure days, respectively, while at site 2, only dexmedetomidine exposure decreased significantly by 10.5% patient days (95% CI, 19.8-1.1%). Patient comfort, safety, and nursing workload were not adversely affected. There was no significant impact of the bundle on the rate of delirium, ventilator-free days, length of PICU stay, or mortality. Key facilitators to implementation included institutional support, unit-wide practice guidelines, dedicated PICU educators, easily accessible resources, and family engagement. CONCLUSIONS: A rehabilitation bundle can improve processes of care and reduce patient sedative exposure without increasing patient discomfort, nursing workload, or harm. We did not observe an impact on short-term clinical outcomes. The efficacy of a PICU-rehabilitation bundle requires ongoing study. Lessons learned in this study provide evidence to inform rehabilitation implementation in the PICU setting.


Asunto(s)
Delirio , Dexmedetomidina , Niño , Humanos , Adolescente , Dexmedetomidina/uso terapéutico , Enfermedad Crítica/terapia , Canadá , Dolor/tratamiento farmacológico , Delirio/prevención & control , Unidades de Cuidado Intensivo Pediátrico
12.
J Obstet Gynaecol Can ; 46(2): 102239, 2024 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-37839731

RESUMEN

OBJECTIVE: Pregnancy is a risk factor for severe SARS-CoV-2 infection, which can result in adverse pregnancy outcomes, thus making understanding vaccine effectiveness (VE) in this population important. This study aimed to assess the VE of mRNA COVID-19 vaccines against symptomatic SARS-CoV-2 infection and COVID-19-related hospitalization in pregnant people. METHODS: Population-based matched test-negative case-control study of pregnant people aged 18-49 years, of 12 or more weeks gestation in Ontario, Canada, symptomatic with possible SARS-CoV-2 infection, and having at least 1 positive (n = 1842) or negative (n = 8524) real-time polymerase chain reaction (RT-PCR) SARS-CoV-2 test between December 14, 2020, and December 31, 2021. The exposure was receipt of ≥1 dose of mRNA COVID-19 vaccine versus no vaccination. Exposure was further stratified by number and recency of doses. The primary outcome was a positive SARS-CoV-2 RT-PCR test. As a secondary outcome, VE for COVID-19-related hospitalization was assessed. RESULTS: In the primary outcome analysis, there were 1821 positive cases, matched to 1821 negative controls. The mean (SD) maternal age was 31 (5) years. When compared to those unvaccinated, receipt of ≥1 dose was associated with an estimated VE of 39% (95% CI 29%-48%) for symptomatic infection, and 85% (95% CI 72%-92%) for COVID-19 hospitalization. VE estimates demonstrated waning with increased time since last vaccination. CONCLUSIONS: mRNA COVID-19 vaccines provide protection against symptomatic COVID-19 illness and are highly effective at preventing severe illness in pregnant people. The observed effect of vaccine waning highlights the importance of booster doses to provide optimal protection for pregnant people.


Asunto(s)
Vacunas contra la COVID-19 , COVID-19 , Femenino , Embarazo , Humanos , Ontario/epidemiología , SARS-CoV-2 , Estudios de Casos y Controles , Eficacia de las Vacunas , COVID-19/diagnóstico , COVID-19/epidemiología , COVID-19/prevención & control , ARN Mensajero
13.
JAMA Surg ; 159(2): 170-178, 2024 Feb 01.
Artículo en Inglés | MEDLINE | ID: mdl-38090998

RESUMEN

Importance: Physicians are known to delay childbearing compared with nonphysicians and to experience higher rates of age-related pregnancy complications. Delay of childbearing is more pronounced in surgical specialties, and family planning and building goals may influence specialty choice. Objective: To assess medical students' perspectives on the development of family planning goals and the timing of family building within a medical career to elucidate how these perceptions impact their choice of specialty. Design, Setting, and Participants: This qualitative study included fourth-year medical students at the University of Toronto Temerty Faculty of Medicine, Toronto, Ontario, Canada, and was conducted between May and August 2021. Participants were purposively sampled to maximize diversity of gender and specialty choice. Interviews were conducted via videoconferencing software that were recorded, transcribed verbatim, and verified for accuracy. Thematic analysis was completed independently by 2 researchers and consensus on final themes was reached through discussion among study investigators. Data were analyzed between September and December 2021. Main Outcomes and Measures: Participants were asked to share their perceptions of personal family planning goals, support currently in place, family planning education in medicine and factors contributing to their choice of specialty and program. Thematic analysis was completed. Results: A total of 34 fourth-year medical students (median [range] age, 26 [24-33] years; 23 females [67.6%]) were interviewed. Four main themes were identified: (1) there is no ideal time to family build in a medical career, (2) family planning is a taboo topic, (3) surgical specialties offer less support for family building, and (4) residents who have children are perceived to place a burden on their colleagues. Medical students considered their family planning while deliberating among specialty choices and their experiences were highly influential in shaping their specialty selection. Conclusions and Relevance: Results of this qualitative study suggest that medical students perceive that family building during training may have unfavorable implications for team dynamics and relationships with colleagues, and these perceptions may affect specialty choice and family planning goals. Integration of family planning discussions and support for family building into medical curricula is needed along with efforts to improve culture by supporting team dynamics and workload when students take parental leave.


Asunto(s)
Selección de Profesión , Estudiantes de Medicina , Femenino , Niño , Humanos , Adulto , Servicios de Planificación Familiar , Educación Sexual , Ontario , Fertilidad
15.
Am J Obstet Gynecol ; 229(6): 658.e1-658.e17, 2023 12.
Artículo en Inglés | MEDLINE | ID: mdl-37544349

RESUMEN

BACKGROUND: Up to 40% of patients aged ≤55 years undergo concomitant bilateral salpingo-oophorectomy at the time of benign hysterectomy, with practice variation in bilateral salpingo-oophorectomy occurring along the lines of patient health and social factors. Disability is common in premenopausal women and is an important determinant of reproductive health more broadly; however, studies on bilateral salpingo-oophorectomy rates among women with disabilities are lacking. OBJECTIVE: This study aimed to examine whether the use of concomitant bilateral salpingo-oophorectomy at the time of benign hysterectomy differs by preexisting disability status in adult females aged ≤55 years. STUDY DESIGN: This population-based cross-sectional study used data from the 2016-2019 US National Inpatient Sample. Females undergoing inpatient hysterectomy for a benign gynecologic indication (n=74,315) were classified as having physical (6.1%), sensory (0.1%), intellectual or developmental (0.2%), or multiple (0.2%) disabilities and compared with those without a disability. Logistic regression was used to estimate risk ratios for differences in bilateral salpingo-oophorectomy rates by disability status, adjusted for patient and clinical factors. Models were stratified by potentially avoidable or potentially appropriate bilateral salpingo-oophorectomy based on the presence of clinical indications for ovarian removal and by age group. RESULTS: Bilateral salpingo-oophorectomy at the time of benign hysterectomy occurred in 26.0% of females without a disability, with rates clearly elevated in those with a physical (33.2%; adjusted risk ratio, 1.10; 95% confidence interval, 1.05-1.14) or intellectual or developmental (31.1%; adjusted risk ratio, 1.32; 95% confidence interval, 1.02-1.64) disability, possibly elevated in those with multiple disabilities (38.2%; adjusted risk ratio, 1.20; 95% confidence interval, 0.94-1.45), and similar in those with a sensory disability (31.2%; adjusted risk ratio, 0.98; 95% confidence interval, 0.83-1.13). The results were similar but with lower statistical precision for potentially avoidable and potentially appropriate bilateral salpingo-oophorectomy, which occurred in 9.1% and 17.0% of females without a disability, respectively. The largest differences in bilateral salpingo-oophorectomy rates among women with any disability were observed in the perimenopausal 45- to 49-year age group. CONCLUSION: Females with disabilities experienced elevated concomitant bilateral salpingo-oophorectomy rates at the time of benign hysterectomy, particularly those with an intellectual or developmental disability and those of perimenopausal age, although some estimates were imprecise. Equity-focused physician training in surgical counseling and research into the epidemiology and experiences of gynecologic conditions among females with a disability may be beneficial.


Asunto(s)
Personas con Discapacidad , Salpingooforectomía , Adulto , Femenino , Humanos , Estudios Transversales , Histerectomía/métodos , Ovariectomía/métodos
16.
Artículo en Inglés | MEDLINE | ID: mdl-37372649

RESUMEN

This exploratory paper examines individual levels of risk assessment as impacting institutional trust in the CDC while also contributing to disparities in expressed willingness to mask early in the COVID-19 pandemic. Using both content and thematic analysis of the CDC's Facebook (FB) page from April 2020 and Gidden's modern risk society theory, I consider how social media (SM) users retrospectively perceived a dramatic change in public health (PH) advisory-from the CDC advising against masking in February 2020 (Time 1) to advising the use of "do-it-yourself" (DIY) cloth masking in April 2020 (Time 2)-through a lens of prior, self-guided research. Expressed "knowledge" of masking as preventative (or not) yielded unwavering and sometimes increasing distrust in the CDC based on user perception of the "correct" advisory, regardless of the CDC's position at Time 1 or Time 2. Simultaneously, disparities in masking behaviors appeared to be driven not by CDC guidance but by this same self-guided research. I show this via three themes: (1) claims of ineffectiveness for DIY masking (do not trust CDC now-no masking from the start); (2) conflict between the first and second CDC advisories on masking (do not trust CDC-either already masking anyway or will now); (3) disappointed in the CDC for length of time taken to make a DIY mask recommendation (do not trust CDC-either already masking anyway or will mask now). I discuss the imperative nature of two-way engagement with SM users by PH rather than using SM as a one-way mode of advisory dissemination. This and other recommendations may decrease disparities in preventative behaviors based on individual-level risk assessment as well as increase institutional trust and transparency.


Asunto(s)
COVID-19 , Medios de Comunicación Sociales , Estados Unidos/epidemiología , Humanos , COVID-19/epidemiología , Pandemias/prevención & control , Estudios Retrospectivos , Centers for Disease Control and Prevention, U.S.
17.
CMAJ ; 195(20): E699-E708, 2023 05 23.
Artículo en Inglés | MEDLINE | ID: mdl-37220929

RESUMEN

BACKGROUND: Cannabis use during pregnancy is increasing, but the contribution of cannabis legalization to these trends is unclear. We sought to determine whether health service utilization related to cannabis use during pregnancy increased after the legalization of nonmedical cannabis in October 2018 in Ontario, Canada. METHODS: In this population-based, repeated cross-sectional study, we evaluated changes in the number of pregnant people who received acute care (emergency department visit or admission to hospital) between January 2015 and July 2021 among all people eligible for the province's public health coverage. We used segmented regression to compare changes in the quarterly rate of pregnant people with acute care related to cannabis use (primary outcome) with the quarterly rates of acute care for mental health conditions or for noncannabis substance use (control conditions). We identified risk factors associated with acute care for cannabis use and the risk of adverse neonatal outcomes using multivariable logistic regression models. RESULTS: The mean quarterly rate of acute care for cannabis use during pregnancy increased from 11.0 per 100 000 pregnancies before legalization to 20.0 per 100 000 pregnancies after legalization (incidence rate ratio [IRR] 1.82, 95% confidence interval [CI] 1.44-2.31), while acute care for mental health conditions decreased (IRR 0.86, 95% CI 0.78-0.95) and acute care for noncannabis substance use did not change (IRR 1.03, 95% CI 0.91-1.17). Legalization was not associated with an immediate change, but the quarterly change in rates of pregnancies with acute care for cannabis use increased by 1.13 (95% CI 0.46-1.79) per 100 000 pregnancies after legalization. Pregnant people with acute care for cannabis use had greater odds of having received acute care for hyperemesis gravidarum during their pregnancy than those without acute care for cannabis use (30.9% v. 2.5%, adjusted odds ratio [OR] 9.73, 95% CI 8.01-11.82). Pregnancies with acute care for cannabis use had greater odds of newborns being born preterm (16.9% v. 7.2%, adjusted OR 1.93, 95% CI 1.45-2.56) and of requiring care in the neonatal intensive care unit (31.5% v. 13.0%, adjusted OR 1.94 95% CI 1.54-2.44) than those without acute care for cannabis use. INTERPRETATION: The rate of acute care related to cannabis use during pregnancy almost doubled after legalization of nonmedical cannabis, although absolute increases were small. These findings highlight the need to consider interventions to reduce cannabis use during pregnancy in jurisdictions pursuing legalization.


Asunto(s)
Cannabis , Alucinógenos , Recién Nacido , Femenino , Embarazo , Humanos , Ontario , Estudios Transversales , Cuidados Críticos
18.
Hum Genet ; 142(7): 879-907, 2023 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-37148394

RESUMEN

Premature ovarian insufficiency (POI) is a common cause of infertility in women, characterised by amenorrhea and elevated FSH under the age of 40 years. In some cases, POI is syndromic in association with other features such as sensorineural hearing loss in Perrault syndrome. POI is a heterogeneous disease with over 80 causative genes known so far; however, these explain only a minority of cases. Using whole-exome sequencing (WES), we identified a MRPL50 homozygous missense variant (c.335T > A; p.Val112Asp) shared by twin sisters presenting with POI, bilateral high-frequency sensorineural hearing loss, kidney and heart dysfunction. MRPL50 encodes a component of the large subunit of the mitochondrial ribosome. Using quantitative proteomics and western blot analysis on patient fibroblasts, we demonstrated a loss of MRPL50 protein and an associated destabilisation of the large subunit of the mitochondrial ribosome whilst the small subunit was preserved. The mitochondrial ribosome is responsible for the translation of subunits of the mitochondrial oxidative phosphorylation machinery, and we found patient fibroblasts have a mild but significant decrease in the abundance of mitochondrial complex I. These data support a biochemical phenotype associated with MRPL50 variants. We validated the association of MRPL50 with the clinical phenotype by knockdown/knockout of mRpL50 in Drosophila, which resulted abnormal ovarian development. In conclusion, we have shown that a MRPL50 missense variant destabilises the mitochondrial ribosome, leading to oxidative phosphorylation deficiency and syndromic POI, highlighting the importance of mitochondrial support in ovarian development and function.


Asunto(s)
Disgenesia Gonadal 46 XX , Pérdida Auditiva Sensorineural , Insuficiencia Ovárica Primaria , Femenino , Humanos , Disgenesia Gonadal 46 XX/genética , Pérdida Auditiva Sensorineural/genética , Mitocondrias/genética , Mutación Missense , Insuficiencia Ovárica Primaria/genética , Animales , Drosophila melanogaster
19.
Pediatr Crit Care Med ; 24(5): 382-390, 2023 05 01.
Artículo en Inglés | MEDLINE | ID: mdl-36877021

RESUMEN

OBJECTIVES: To develop and implement a tool to improve daily patient goal setting, team collaboration and communication. DESIGN: Quality improvement implementation project. SETTING: Tertiary-level PICU. PATIENTS: Inpatient children less than 18 years old requiring ICU level care. INTERVENTION: A "Glass Door" daily goals communication tool located in the door front of each patient room. MEASUREMENTS AND MAIN RESULTS: We used Pronovost's 4 E's model to implement the Glass Door. Primary outcomes were uptake of goal setting, healthcare team discussion rate around goals, rounding efficiency, acceptability and sustainability of the Glass Door. The total implementation duration from engagement to evaluation of sustainability was 24 months. Goal setting increased significantly from 22.9% to 90.7% ( p < 0.01) patient-days using the Glass Door compared to a paper-based daily goals checklist (DGC). One-year post implementation, the uptake was sustained at 93.1% ( p = 0.04). Rounding time decreased from a median of 11.7 minutes (95% CI, 10.9-12.4 min) to 7.5 minutes (95% CI, 6.9-7.9 min) per patient post-implementation ( p < 0.01). Goal discussions on ward rounds increased overall from 40.1% to 58.5% ( p < 0.01). Ninety-one percent of team members perceive that the Glass Door improves communication for patient care, and 80% preferred the Glass Door to the DGC for communicating patient goals with other team members. Sixty-six percent of family members found the Glass Door helpful in understanding the daily plan and 83% found it helpful in ensuring thorough discussion among the PICU team. CONCLUSIONS: The Glass Door is a highly visible tool that can improve patient goal setting and collaborative team discussion with good uptake and acceptability among healthcare team members and patient families.


Asunto(s)
Familia , Objetivos , Niño , Humanos , Adolescente , Hospitales , Comunicación , Grupo de Atención al Paciente
20.
CMAJ Open ; 11(2): E255-E266, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-36918209

RESUMEN

BACKGROUND: Surgical shutdowns related to the COVID-19 pandemic have resulted in prolonged wait times for nonemergency surgery. We aimed to understand informational needs and generate suggestions on management of the surgical backlog in the context of the ongoing COVID-19 pandemic through focus groups with key stakeholders. METHODS: We performed a qualitative study with focus groups held between Sept. 29 and Nov. 30, 2021, in Ontario, with patients who underwent or were awaiting surgery during the pandemic and their family members, and health care leaders with experience or influence overseeing the delivery of surgical services. We conducted the focus groups virtually; focus groups for patients and family members were conducted separately from health care leaders to ensure participants could speak freely about their experiences. Our goal was to elicit information on the impact of communication about the surgical backlog, how this communication may be improved, and to generate and prioritize suggestions to address the backlog. Data were mapped onto 2 complementary frameworks that categorized approaches to reduction in wait times and strategies to improve health care delivery. RESULTS: A total of 11 patients and family members and 20 health care leaders (7 nursing surgical directors, 10 surgeons and 3 administrators) participated in 7 focus groups (2 patient and family, and 5 health care leader). Participants reported receiving conflicting information about the surgical backlog. Suggestions for communication about the backlog included unified messaging from a single source with clear language to educate the public. Participants prioritized the following suggestions for surgical recovery: increase supply through focusing on system efficiencies and maintaining or increasing health care personnel; incorporate patient-centred outcomes into triage definitions; and refine strategies for performance management to understand and measure inequities between surgeons and centres, and consider the impact of funding incentives on "nonpriority" procedures. INTERPRETATION: Patients and their families and health care leaders experienced a lack of communication about the surgical backlog and suggested this information should come from a single source; key suggestions to manage the surgical backlog included a focus on system efficiencies, incorporation of patient-centred outcomes into triage definitions, and improving the measurement of wait times to monitor health system performance. The suggestions generated in this study that may be used to address surgical backlog recovery in the Canadian setting.


Asunto(s)
COVID-19 , Pandemias , Humanos , COVID-19/epidemiología , Atención a la Salud , Investigación Cualitativa , Ontario
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