Interdisciplinary tumour boards in Switzerland: quo vadis?

BACKGROUND/AIMS: The objective of the present investigation is twofold: first, to assess how interdisciplinary tumour boards in Switzerland are designed, established, and rated in clinical practice; and second, to evaluate perceptions regarding the determination of cancer centres as required by the Swiss National Cancer Programme. METHODS: An anonymous questionnaire was sent to the heads of surgical departments in Switzerland (n = 110). Among the clinics contacted were 11 large referral centres (type A clinics), 48 surgical departments of cantonal hospitals (type B clinics), and 51 regional surgical departments (type C clinics). RESULTS: For most type A and B clinics, tumour boards are held on a weekly basis (A: 100%, B: 88%, C: 26%).On average, 66% of respondents (A: 90%, B: 71 %, C: 52 %) consider tumour boards a standard of care for every cancer patient. Determination of cancer centres was favoured by 49% of all respondents (A: 80%, B: 56%, C: 32 %). CONCLUSION: The present survey in Switzerland clearly shows significant differences between type A, B, and C clinics in the use of tumour boards and in their perception as a standard of care. There are wide discrepancies in the perceived need to determine cancer centres in Switzerland as required by the Swiss National Cancer Programme. Since the implementation of tumour boards is associated with optimised cancer patient care, continuing education on their importance is a vital necessity.     

Negative expiratory pressure: A new tool for evaluating lung function in children?

The negative expiratory pressure technique (NEP) has been applied in adults with chronic obstructive pulmonary disease (COPD), demonstrating flow limitation in many of these patients. Because this technique does not require patient cooperation, it is of potential interest for application in the pediatric population. This study was performed to test the feasibility of NEP in children, and to further investigate it in children with asthma and cystic fibrosis (CF). We performed NEP (0.3-0.7 kPa) measurements in 14 healthy children (13.3 years, +/- 2.4), in 12 children with asthma (11.7 years, +/- 3.0), and in 17 children with CF (13.3 years, +/- 2.7). NEP-derived flow-volume loops were visually analyzed for flow limitation at tidal breathing. In addition, expiratory flow at 50% of tidal volume (TEF(50)) was measured. In healthy children, the intraclass coefficient of correlation was 77%, and intraindividual short- and long-term variability was 5.8% and 10.8%, respectively. In asthmatics, TEF(50) was lower compared with controls, and increased after inhalation of salbutamol. However, appropriate size-correction has still to be established. Measurement of TEF(50) using NEP is feasible in children. Despite good reproducibility in individual patients, the high intersubject variability may limit its usefulness as a clinical tool. In addition, the lack of flow limitation using NEP even in severely obstructed patients with CF warrants further investigation.     

A nationwide survey in Germany on fatal asthma and near-fatal asthma in children: different entities?

In adults fatal and near-fatal asthma have similar clinical characteristics. Therefore, near-fatal asthma in adults can be used as a model for fatal asthma. A nationwide study on fatal and near-fatal asthma in children <16 yrs was performed in order to assess whether, as in adults, near-fatal asthma can be used as a model for fatal asthma. From 1996 to 1998, all paediatric hospitals and paediatric pulmonologists in Germany were asked to report cases of fatal asthma and near-fatal asthma to a central survey unit (Erhebungseinheit für seltene p?diatrische Erkrankungen in Deutschland (ESPED)) on a monthly basis. All reports were followed by detailed questionnaires. Sixteen fatal and 45 near-fatal asthma cases were analysed. Fatal asthma patients were older than near-fatal asthma patients. Respiratory tract infections were frequently reported only in near-fatal asthma (47 versus 0%). The proportion of cases with rapid-type onset (duration of symptoms < or =1 h) was higher in fatal asthma (53 versus 14%). Long-term regular treatment with short acting beta2-agonists was common in both groups, but the use of concomitant inhaled corticosteroids was significantly lower in fatal asthma cases. A high proportion of poor compliance was observed in both groups. As fatal and near-fatal asthma differ significantly in important clinical aspects, analysis of near-fatal asthma might be of limited value in elucidating the causes of fatal asthma in children.     

Hepatitis of unknown etiology in children in Brazil: A new challenge or the usual scenario ?

BackgroundAn outbreak of acute hepatitis of unknown etiology in children was recently reported worldwide. We aimed to describe the burden of hospitalizations due to hepatitis of unknown etiology in children/adolescents in Brazilian public hospitals.MethodsWe retrieved a database of all hospitalizations in the Brazilian Unified Health System (SUS) from January/2019 to February/2022 using the “microdatasus” R package. Hepatitis of unknown etiology was defined by the following International Classification of Diseases [ICD-10] codes: B19, B19.0, B19.9, K72.0, K72.9, K75, K75.9, R94.5, or R93.2. The incidence rates (95% confidence interval, IC) per 1,000 all-cause hospitalizations in different age strata [< 6 years; 6–11 years and 12–17 years] were estimated.ResultsA total of 94,198 hospitalizations due to hepatic or infectious diseases with potential liver injury were analyzed. Of them, 1,535 children/adolescents [48.2% male sex, 41.6% aged < 6 years] were hospitalized with hepatitis with unknown etiology. The top ICD-10 codes were B19.9 [unspecified viral hepatitis without hepatic coma; 39.9% (n = 612)], K72.9 [hepatic failure, unspecified; 29.8% (n = 457)], and K72.0 [hepatic failure, not elsewhere classified; 14.5% (n = 223)]. A total of 8.5% (n = 131) of individuals required liver transplantation and 7.0% (n = 107) died during the hospital-stay. In 2021, the incidence rates (95% CI) of hospitalizations for hepatitis with unknown etiology were 7.80 (7.63–7.98), 17.96 (17.46–18.48) and 13.28 (12.95–13.62) per 1,000 all-cause hospitalizations in subjects aged < 6 years, 6–11 years and 12–17 years-old, respectively. Similarly, the incidence rates of hospitalization due to hepatitis with unknown etiology per 1,000 all-cause hospitalizations (CI95%) in January-February/2022 were 7.52 (7.11–7.94), 16.82 (15.68–18.03), and 13.96 (13.10–14.85) for children/adolescents with age < 6 years, 6–11 years, and 12–17 years, respectively.ConclusionsA non-negligible number of hospitalizations due to hepatitis with unknown etiology in children/adolescents was observed in the last years in Brazil. Up to 15% of those cases needed liver transplantation or died.     

CYP21A2 Gene Mutations in Congenital Adrenal Hyperplasia: Genotype?phenotype correlation in Turkish children

Background: Congenital adrenal hyperplasia (CAH) due 21−hydroxylase deficiency (21−OHD) is a common autosomal recessive disorder. It is caused by defects in the CYP21A2 gene.Objective: Our aim was to determine the frequency of common gene mutations and to evaluate genotype−phenotype correlations in Turkish 21−OHD patients.Methods: Molecular analysis of the CYP21A2 gene was performed for the detection of the eight most common point mutations [p.P30L, IVS2−13C>G (IVS−2), p.I172N, exon 6 mutation cluster (p.I236N, p.V237E, p.M239K), p.V281L, p.Q318X, p.R356W, 8−bp−deletion], of large deletion and conversion by southern blotting, allele specific semi−quantitative PCR/enzyme restriction method and sequencing, in 56 patients with 21−OHD, from 52 families.Results: Disease−causing mutations were identified in 77 out of 91 alleles (84.6%) of the patients. Mutations were found in 34 of 43 alleles (79.1%) in salt wasting (SW; n=26), 32 of 36 alleles (88.8%) in simple virilizing (SV; n=24) and 11 of 12 alleles (91.6%) in non−classical (NC; n=6) form of CAH. The most frequent mutations were IVS−2 (22.0%), large conversion (14.3%), p.I172N (9.9%) p.R356W (8.8%), and large deletion (6.6%). In the SW form, the most frequent genotypes were homozygous for IVS−2 (11.5%) and homozygous for large conversion of the gene (11.5%). In the SV form, the most frequent genotype was homozygous for IVS−2 (20%), followed by compound heterozygous for p.I172N/8−bp del (10%). Homozygous for p.V281L (16.7%) was most common in NC. In most cases there was good correlation between genotype and phenotype. In the SW and NC forms, genotypes of all the patients correlated with their phenotypes. Conclusions: This is the first comprehensive study on the molecular basis of CAH patients in the Turkish population. Based on these results, we propose a modified screening strategy to facilitate molecular testing of CAH patients in our population.Conflict of interest:None declared.