Search

Your search keyword '"Waespe, Nicolas"' showing total 5 results
Start Over Author "Waespe, Nicolas" Topic pediatrics
5 results on '"Waespe, Nicolas"'

2. Increased risk of symptomatic upper-extremity venous thrombosis with multiple peripherally inserted central catheter insertions in pediatric patients

Author

Gnannt, Ralph, Waespe, Nicolas, Temple, Michael, Amirabadi, Afsaneh, Liu, Kuan, Brandão, Leonardo R, Connolly, Bairbre L, University of Zurich, and Gnannt, Ralph

Subjects
and Child Health, 10036 Medical Clinic, 10042 Clinic for Diagnostic and Interventional Radiology, Radiology Nuclear Medicine and imaging, 2741 Radiology, Nuclear Medicine and Imaging, 610 Medicine & health, 2735 Pediatrics, Perinatology and Child Health, Pediatrics, Perinatology
Published
2018

3. Cancer predisposition syndromes as a risk factor for early second primary neoplasms after childhood cancer – A national cohort study.

Author

Waespe, Nicolas, Belle, Fabiën N., Redmond, Shelagh, Schindera, Christina, Spycher, Ben D., Rössler, Jochen, Ansari, Marc, and Kuehni, Claudia E.

Subjects
*TUMOR risk factors, *CONFIDENCE intervals, *CANCER chemotherapy, *GENETIC disorders, *GENETIC testing, *TUMORS in children, *CANCER patients, *ADOLESCENT health, *DISEASE susceptibility, *RADIOTHERAPY, *HEREDITARY cancer syndromes, *LONGITUDINAL method, *DISEASE complications
Abstract

Childhood cancer patients are at increased risk of second primary neoplasms (SPNs). We assessed incidence and risk factors for early SPNs with a focus on cancer predisposition syndromes (CPSs). This cohort study used data from the Swiss Childhood Cancer Registry. We included patients with first primary neoplasms (FPNs) diagnosed before age 21 years from 1986 to 2015 and identified SPNs occurring before age 21. We calculated standardised incidence ratios (SIRs) and absolute excess risks (AERs) using Swiss population cancer incidence data, and cumulative incidence of SPNs. We calculated hazard ratios (HRs) of risk factors for SPNs using Fine and Gray competing risk regression. Among 8074 childhood cancer patients, 304 (4%) were diagnosed with a CPS and 94 (1%) developed early SPNs. The incidence of SPNs was more than 10-fold higher in childhood cancer patients than the incidence of neoplasms in the general population (SIR = 10.6, 95% confidence interval [CI]: 8.7–13.1) and the AER was 179/100,000 person-years (CI: 139–219). Cumulative incidence of SPNs 20 years after FPN diagnosis was 23% in patients with CPSs (CI: 12–41%) and 2.7% in those without (CI: 2.0–3.6%). Risk factors for SPNs were CPSs (HR = 7.8, CI: 4.8–12.7), chemotherapy (HR = 2.2, CI: 1.1–4.6), radiotherapy (HR = 1.9, CI = 1.2–2.9), haematopoietic stem cell transplantation (HR = 1.8, CI: 1–3.3), and older age (15–20 years) at FPN diagnosis (HR = 1.9, CI: 1.1–3.2). CPSs are associated with a high risk of SPNs before age 21 years. Identification of CPSs is important for appropriate cancer surveillance and targeted screening. Image 1 • The incidence of second primary neoplasms (SPNs) before age 21 years was 10-fold higher after childhood cancer compared to the general population. • Cancer predisposition syndromes (CPSs) were the strongest predictor of SPNs. • The cumulative incidence of SPNs was 23% (95%CI 12–41%) in CPSs after 20 years of follow-up. [ABSTRACT FROM AUTHOR]

Published
2021
Full Text
View/download PDF

5. The landscape of pediatric Diamond-Blackfan anemia in Switzerland: genotype and phenotype characteristics

Author

Nicolas Waespe, Raffaele Renella, Markus Schmugge, Heinz Hengartner, Nicole Vogel, University of Zurich, Waespe, Nicolas, and Hengartner, Heinz

Subjects
Ribosomal Proteins, Pediatrics, medicine.medical_specialty, Genotype, Anemia, Population, 610 Medicine & health, 03 medical and health sciences, 0302 clinical medicine, Genotype-phenotype distinction, 030225 pediatrics, medicine, Humans, 030212 general & internal medicine, 2735 Pediatrics, Perinatology and Child Health, Diamond–Blackfan anemia, Child, education, Anemia, Diamond-Blackfan, Retrospective Studies, education.field_of_study, Genitourinary system, business.industry, 360 Soziale Probleme, Sozialdienste, medicine.disease, Anus, Perinatology, and Child Health, Phenotype, medicine.anatomical_structure, 10036 Medical Clinic, Mutation, Pediatrics, Perinatology and Child Health, Cohort, Macrocytic anemia, business, 610 Medizin und Gesundheit, Switzerland
Abstract

Diamond-Blackfan anemia (DBA) is caused mainly by genetic mutations in large (RPL) or small ribosomal subunit genes (RPS) and presents with macrocytic anemia and congenital malformations. Clinical differences between genotypes are insufficiently understood. The aim of this study was to assess clinical features, treatment strategies, and genotypes in the Swiss pediatric DBA population. We retrospectively reviewed medical charts of pediatric patients with DBA in Switzerland and stratified patients by RPL versus RPS mutations. We report 17 DBA patients in Switzerland who were all genetically investigated. In our cohort, patients showed a wide spectrum of clinical presentations and treatment needs. We found a high proportion of physical malformations (77%) including lower limb (17%) and anorectal (12%) malformations. The two patients with anorectal malformations presented both with antepositioning of the anus needing surgery within the first 15 months of life. One of these patients had sphincteric dysfunction, the other coccygeal agenesis. We found that included patients with an RPL mutation more frequently tended to have physical malformations and a milder anemia compared to patients with an RPS mutation (median hemoglobin at diagnosis 76 g/l versus 22 g/l).Conclusion: We illustrate the wide clinical and genetic spectrum of DBA in Switzerland. Our findings highlight the need to take this diagnosis into consideration in patients with severe anemia but also in patients with mild anemia where malformations are present. Lower limb and anorectal malformation extend the spectrum of DBA-associated malformations. What is Known? • There is a large variation in the phenotype of Diamond-Blackfan Anemia (DBA) and diversity of genetic mutations. • Malformation of the upper limbs, head and face, heart, and genitourinary system is frequently identified. What is New? • Patients with lower limb and anorectal malformations were repetitively found in our cohort enlarging the clinical spectrum of malformations. • We show two patients of the same family with a DBA-like condition where the same RPL17 variant was identified.

Published
2021
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results