Reply to Eker et al. Comment on "Kilian et al. Comparing Characteristics and Treatment of Brain Vascular Malformations in Children and Adults with HHT. J. Clin. Med. 2023, 12, 2704".

We are grateful to Eker et al. for their thoughtful analysis and response to our publication titled Comparing Characteristics and Treatment of Brain Vascular Malformations in Children and Adults with HHT [...].

Comparing Characteristics and Treatment of Brain Vascular Malformations in Children and Adults with HHT.

Hereditary hemorrhagic telangiectasia (HHT) is a rare autosomal dominant disease characterized by the development of vascular malformations (VMs) in organs such as the brain and lungs, as well as telangiectases on mucosal surfaces. Prophylactic treatment of organ VMs may prevent potential complications, such as hemorrhage. However, brain VM treatment-surgical resection, embolization, and/or radiosurgery-is not recommended for all patients due to the associated risks. Given the scarcity of data regarding HHT-related brain VM presentation and treatment trends in pediatric patients, we aim to describe the clinical presentations and the patterns of treatment of HHT-related brain VMs in a pediatric cohort, and compare pediatric trends to those of adults. Demographic and clinical data were analyzed in 114 pediatric patients with HHT-related brain VMs and compared with a cohort of 253 adult patients enrolled in the multicenter Brain Vascular Malformation Consortium HHT Project. Our data demonstrated that a higher proportion of pediatric patients with HHT-related brain VMs were symptomatic at presentation (p = 0.004). Moreover, a higher proportion of pediatric patients presented with intracranial hemorrhage (p < 0.001) and seizure (p = 0.002) compared to adult patients. Surgical resection was the most common brain VM treatment modality in both children and adults. We conclude that pediatric patients may be more likely to present with symptoms and complications from brain VMs, supporting the case for screening for brain VMs in children with HHT.

All of Residency's a Stage: Fostering Authenticity and Individuality Among Learners.

Understanding the process of professional identity formation, and its susceptibility to the hidden curriculum, is of increasing importance in medical education. Through a lens of performance, this commentary explores the impact of the culture, the hidden curriculum, and the socialization process of the medical training environment on the professional identity formation of learners. We emphasize the need to train physicians with diverse interests and skills, capable of creative problem solving in response to the rapidly evolving challenges facing the profession and society more broadly. Opportunities for learners to drive cultural change and promote authenticity and unique professional identity formation are identified.

Genotype-Phenotype Correlations in Children with HHT.

Hereditary hemorrhagic telangiectasia (HHT), a rare autosomal dominant disease mostly caused by mutations in three known genes (ENG, ACVRL1, and SMAD4), is characterized by the development of vascular malformations (VMs). Patients with HHT may present with mucocutaneous telangiectasia, as well as organ arteriovenous malformations (AVMs) of the central nervous system, lungs, and liver. Genotype-phenotype correlations have been well described in adults with HHT. We aimed to investigate genotype-phenotype correlations among pediatric HHT patients. Demographic, clinical, and genetic data were collected and analyzed in 205 children enrolled in the multicenter Brain Vascular Malformation Consortium HHT Project. A chi-square test was used to determine the association between phenotypic presentations and genotype. Among 205 patients (age range: 0-18 years; mean: 11 years), ENG mutation was associated with the presence of pulmonary AVMs (p < 0.001) and brain VM (p < 0.001). The presence of a combined phenotype-defined as both pulmonary AVMs and brain VMs-was also associated with ENG mutation. Gastrointestinal bleeding was rare (4.4%), but was associated with SMAD4 genotype (p < 0.001). We conclude that genotype-phenotype correlations among pediatric HHT patients are similar to those described among adults. Specifically, pediatric patients with ENG mutation have a greater prevalence of pulmonary AVMs, brain VMs, and a combined phenotype.

Exploring the approaches of non-Indigenous researchers to Indigenous research: a qualitative study.

BACKGROUND: Given the history of unethical research in Indigenous communities, there is often apprehension among Indigenous communities toward research carried out by non-Indigenous researchers. We examined the approaches, experiences and motivations among non-Indigenous researchers at a research-intensive Canadian university conducting research with Indigenous communities to understand approaches to ethical research with Indigenous peoples. METHODS: We performed a critical constructivist qualitative study incorporating decolonizing methodologies. We conducted semistructured interviews with 8 non-Indigenous University of Toronto researchers with a research focus/interest related to Indigenous health between August and October 2017. The interviews were transcribed and thematically analyzed through an iterative process. Shared experiences among the researchers were arranged into primary themes. RESULTS: We identified 4 primary themes related to the conduct of Indigenous research by non-Indigenous researchers: 1) relationships with communities are foundational to the research process, 2) non-Indigenous researchers experience a personal self-reflective journey grounded in reconciliation, allyship and privilege, 3) accepted knowledge frameworks in Indigenous research are familiar to most but are inconsistently applied and 4) institutions act as barriers to and facilitators of ethical conduct of Indigenous research. Four core principles - relationships, trust, humility and accountability - unified the primary themes. INTERPRETATION: We identified strengths and areas for improvement of current policies and practices in Indigenous research by non-Indigenous researchers. Although non-Indigenous researchers value relationships, and their research is informed by Indigenous knowledge, institutional barriers to implementing recommended elements exist, and certain policy statements such as the Tri-Council Policy Statement 2 lack applicability to secondary data analysis for some non-Indigenous researchers.

What is known about pathways to mental health care for Australian Aboriginal young people?: a narrative review.

OBJECTIVES: To (1) gain an understanding of current trajectories of Aboriginal young people through the mental health care system in Australia; (2) summarize what mental health care pathways have been developed or evaluated to guide mental health care delivery for Aboriginal young people; and (3) identify barriers and facilitators to the adoption of effective mental health care pathways for Aboriginal young people. METHODS: Databases, including, AMED, Embase, Global Health, Health and Psychosocial Instruments, Healthstar, MEDLINE, PsychINFO via Ovid, CINAHL via EBSCO, The Cochrane Library, Indigenous Collections, Informit and Health Systems Evidence, were searched to identify evidence concerning mental health service delivery for Aboriginal young people in a primary care setting. RESULTS: We did not identify any reports or publications explicitly describing the current trajectories of Aboriginal young people through the mental health care system in Australia. Furthermore, we were unable to locate any mental health-related treatment pathways which had been explicitly developed or modified to meet the needs of Aboriginal young people. The use of appropriate assessment tools, engagement of family and community, flexibility, and central coordination have been identified in the literature as potential facilitators of culturally appropriate mental health service delivery for Aboriginal children and adolescents. CONCLUSIONS: Aboriginal children and adolescents may face additional difficulties navigating the mental health care system in Australia due to complex socio-cultural factors and the dearth of culturally appropriate and effective mental-health related treatment pathways. Additional research regarding (1) practice trends in Aboriginal settings and (2) how Aboriginal child and adolescent mental health can be improved is urgently needed to inform clinical practice and improve mental health service access and outcomes for Aboriginal young people in Australia.

Endoscopic endonasal transsphenoidal approach to large and giant pituitary adenomas: institutional experience and predictors of extent of resection.

UNLABELLED: OBJECT.: While the use of endoscopic approaches has become increasingly accepted in the resection of pituitary adenomas, limited evidence exists regarding the success of this technique for patients with large and giant pituitary adenomas. This study reviews the outcomes of a large cohort of patients with large and giant pituitary adenomas who underwent endoscopic endonasal transsphenoidal surgery at the authors' institution and focuses on identifying factors that can predict extent of resection and hence aid in developing guidelines and indications for the use of endoscopic endonasal transsphenoidal surgery versus open craniotomy approaches to large and giant pituitary adenomas. METHODS: The authors reviewed 487 patients who underwent endoscopic endonasal transsphenoidal resection of sellar masses. From this group, 73 consecutive patients with large and giant pituitary adenomas (defined as maximum diameter ≥ 3 cm and tumor volume ≥ 10 cm(3)) who underwent endoscopic endonasal transsphenoidal surgery between January 1, 2006, and June 6, 2012, were included in the study. Clinical presentation, radiological studies, laboratory investigations, tumor pathology data, clinical outcomes, extent of resection measured by volumetric analysis, and complications were analyzed. RESULTS: The mean preoperative tumor diameter in this series was 4.1 cm and the volume was 18 cm(3). The average resection rate was 82.9%, corresponding with a mean residual volume of 3 cm(3). Gross-total resection was achieved in 16 patients (24%), near-total in 11 (17%), subtotal in 24 (36%), and partial in 15 (23%). Seventy-three percent of patients experienced improvement in visual acuity, while 24% were unchanged. Visual fields were improved in 61.8% and unchanged in 5.5%. Overall, 27 patients (37%) experienced a total of 32 complications. The most common complications were sinusitis (14%) and CSF leak (10%). Six patients underwent subsequent radiation therapy because of aggressive tumor histopathology. No deaths occurred in this cohort of patients. Statistically significant predictors of extent of resection included highest Knosp grade (p = 0.001), preoperative tumor volume (p = 0.025), preoperative maximum tumor diameter (p = 0.002), hemorrhagic component (p = 0.027), posterior extension (p = 0.001), and sphenoid sinus invasion (p = 0.005). CONCLUSIONS: Endoscopic endonasal transsphenoidal surgery is an effective treatment method for patients with large and giant pituitary adenomas, which results in high (> 80%) rates of resection and improvement in visual function. It is not associated with high rates of major complications and is safe when performed by experienced surgeons. The preoperative Knosp grade, tumor volume, tumor diameter, hemorrhagic components on MRI, posterior extension, and sphenoid sinus invasion may allow a prediction of extent of resection and in these patients a staged operation may be required to maximize extent of resection.