Ten-year experiences on initial genetic examination in childhood acute lymphoblastic leukaemia in Hungary (1993-2002). Technical approaches and clinical implementation.

A nationwide study was started in 1993 to provide genetic diagnosis for all newly diagnosed childhood ALL cases in Hungary using cytogenetic examination, DNA-index determination, FISH (aneuploidy, ABL/BCR, TEL/AML1) and molecular genetic tests (ABL/BCR, MLL/AF4, TEL/AML1). Aim of the study was to assess the usefulness of different genetic methods, to study the frequency of various aberrations and their prognostic significance. Results were synthesized for genetic subgrouping of patients. To assess the prognostic value of genetic aberrations overall and event-free survival of genetic subgroups were compared using Kaplan-Meier method. Prognostic role of aberrations was investigated by multivariate analysis (Cox's regression) as well in comparison with other factors (age, sex, major congenital abnormalities, initial WBC, therapy, immunophenotype). Five hundred eighty-eight ALL cases were diagnosed between 1993-2002. Cytogenetic examination was performed in 537 (91%) (success rate 73%), DNA-index in 265 (45%), FISH in 74 (13%), TEL/AML1 RT-PCR in 219 (37%) cases producing genetic diagnosis in 457 patients (78%). Proportion of subgroups with good prognosis in prae-B-cell ALL was lower than expected: hyperdiploidB 18% (73/400), TEL/AML1+ 9% (36/400). Univariate analysis showed significantly better 5-year EFS in TEL/AML1+ (82%) and hyperdiploidB cases (78%) than in tetraploid (44%) or pseudodiploid (52%) subgroups. By multivariate analysis main negative prognostic factors were: congenital abnormalities, high WBC, delay in therapy, specific translocations. CONCLUSION: Complementary use of each of genetic methods used is necessary for reliable genetic diagnosis according to the algorithm presented. Specific genetic alterations proved to be of prognostic significance

Amplifying patient voices amid pandemic: Perspectives on tracheostomy care, communication, and connection.

OBJECTIVE: To investigate perspectives of patients, family members, caregivers (PFC), and healthcare professionals (HCP) on tracheostomy care during the COVID-19 pandemic. METHODS: The cross-sectional survey investigating barriers and facilitators to tracheostomy care was collaboratively developed by patients, family members, nurses, speech-language pathologists, respiratory care practitioners, physicians, and surgeons. The survey was distributed to the Global Tracheostomy Collaborative's learning community, and responses were analyzed. RESULTS: Survey respondents (n = 191) from 17 countries included individuals with a tracheostomy (85 [45 %]), families/caregivers (43 [22 %]), and diverse HCP (63 [33.0 %]). Overall, 94 % of respondents reported concern that patients with tracheostomy were at increased risk of critical illness from SARS-CoV-2 infection and COVID-19; 93 % reported fear or anxiety. With respect to prioritization of care, 38 % of PFC versus 16 % of HCP reported concern that patients with tracheostomies might not be valued or prioritized (p = 0.002). Respondents also differed in fear of contracting COVID-19 (69 % PFC vs. 49 % HCP group, p = 0.009); concern for hospitalization (55.5 % PFC vs. 27 % HCP, p < 0.001); access to medical personnel (34 % PFC vs. 14 % HCP, p = 0.005); and concern about canceled appointments (62 % PFC vs. 41 % HCP, p = 0.01). Respondents from both groups reported severe stress and fatigue, sleep deprivation, lack of breaks, and lack of support (70 % PFC vs. 65 % HCP, p = 0.54). Virtual telecare seldom met perceived needs. CONCLUSION: PFC with a tracheostomy perceived most risks more acutely than HCP in this global sample. Broad stakeholder engagement is necessary to achieve creative, patient-driven solutions to maintain connection, communication, and access for patients with a tracheostomy