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2980 publications

... | 2022 | 2021 | ...
 
Vaptans for oedematous and hyponatraemic disorders in childhood: A systematic literature review.
Piffer A., Bianchetti M.G., Leoni-Foglia C., Simonetti G.D., Milani G.P., Lava SAG, 2022/10. British journal of clinical pharmacology, 88 (10) pp. 4474-4480. Peer-reviewed.
 
Trimethoprim-associated hyperkalaemia: a systematic review and meta-analysis.
Faré P.B., Memoli E., Treglia G., Bianchetti M.G., Milani G.P., Marchisio P., Lava SAG, Janett S., 2022/09/30. The Journal of antimicrobial chemotherapy, 77 (10) pp. 2588-2595. Peer-reviewed.
Nouvelle technologie de gestion du diabète: apprendre ensemble et en situation [New technology of diabetes management: learning together and in situation]
Pralong M., Danesi G., Panese F., Burnand B., Hauschild M., Grossen M., 2022/09/21. Revue medicale suisse, 18 (796) pp. 1767-1769. Peer-reviewed.
 
Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications.
Johannesen K.M., Liu Y., Koko M., Gjerulfsen C.E., Sonnenberg L., Schubert J., Fenger C.D., Eltokhi A., Rannap M., Koch N.A. et al., 2022/09/14. Brain, 145 (9) pp. 2991-3009. Peer-reviewed.
Swiss recommendations on perioperative antimicrobial prophylaxis in children.
Paioni P., Aebi C., Bielicki J., Buettcher M., Crisinel P.A., Kahlert C.R., Wagner N., Berger C., Paediatric Infectious Disease Group of Switzerland (PIGS), 2022/09/12. Swiss medical weekly, 152 pp. w30230. Peer-reviewed.
 
Impacts d’un diagnostic de cancer sur la vie sociale et scolaire d’un enfant
Diezi Manuel, 2022/09. pp. 71-76 dans Mort et deuils en milieux scolaires : regards pédagogiques, cliniques et socioculturels 489 chap. 4, ALPHIL-Presses universitaires suisses.
 
Practical considerations and consensus opinion for children's hospital-based inpatient hemostasis and thrombosis (HAT) consultative services: Communication from the ISTH SSC Subcommittee on Pediatric/Neonatal Thrombosis and Hemostasis.
Woods G.M., Raffini L., Brandão L.R., Jaffray J., Branchford B.R., Ng C.J., Sartain S.E., Pak J., Male C., Zia A. et al., 2022/09. Journal of thrombosis and haemostasis, 20 (9) pp. 2151-2158. Peer-reviewed.
 
Rituximab in juvenile myasthenia gravis-an international cohort study and literature review.
Ramdas S., Della Marina A., Ryan M.M., McWilliam K., Klein A., Jacquier D., Alabaf S., Childs A.M., Parasuraman D., Beeson D. et al., 2022/09. European journal of paediatric neurology, 40 pp. 5-10. Peer-reviewed.
Evidence-based optimisation of empirical antibiotic regimens in paediatric complicated appendicitis: a retrospective study of 94 patients.
Gerber F., Joseph J.M., Crisinel P.A., Andrey V., 2022/08/29. Swiss medical weekly, 152 pp. w30222. Peer-reviewed.
ORCHID (Outcome Registry for CHIldren with severe congenital heart Disease) a Swiss, nationwide, prospective, population-based, neurodevelopmental paediatric patient registry: framework, regulations and implementation.
Natterer J., Schneider J., Sekarski N., Rathke V., Adams M., Latal B., Borradori-Tolsa B.T., Bouhabib M., Fuhrer Kradolfer K., Glöckler M. et al., 2022/08/29. Swiss medical weekly, 152 pp. w30217. Peer-reviewed.
Stress-Induced Premature Senescence Related to Oxidative Stress in the Developmental Programming of Nonalcoholic Fatty Liver Disease in a Rat Model of Intrauterine Growth Restriction.
Keshavjee B., Lambelet V., Coppola H., Viertl D., Prior J.O., Kappeler L., Armengaud J.B., Chouraqui J.P., Chehade H., Vanderriele P.E. et al., 2022/08/29. Antioxidants, 11 (9) p. 1695. Peer-reviewed.
Hand Ownership Is Altered in Teenagers with Unilateral Cerebral Palsy.
Gerber C.N., Gasser D.L., Newman C.J., 2022/08/19. Journal of clinical medicine, 11 (16) p. 4869. Peer-reviewed.
Physical activity, respiratory physiotherapy practices, and nutrition among people with primary ciliary dyskinesia in Switzerland - a cross-sectional survey.
Lam Y.T., Pedersen ESL, Schreck L.D., Hüsler L., Koppe H., Belle F.N., Clarenbach C., Latzin P., Swiss PCD research group, Kuehni C.E. et al., 2022/08/15. Swiss medical weekly, 152 pp. w30221. Peer-reviewed.
 
Total water intake and its contributors in infants and young children.
Chouraqui J.P., Thornton S.N., Seconda L., Kavouras S.A., 2022/08/14. The British journal of nutrition, 128 (3) pp. 531-541. Peer-reviewed.
Therapeutic Drug Monitoring of Ivacaftor, Lumacaftor, Tezacaftor, and Elexacaftor in Cystic Fibrosis: Where Are We Now?
Choong E., Sauty A., Koutsokera A., Blanchon S., André P., Decosterd L., 2022/08/11. Pharmaceutics, 14 (8) p. 1674. Peer-reviewed.
Efficacy and safety of empagliflozin in glycogen storage disease type Ib: Data from an international questionnaire.
Grünert S.C., Derks TGJ, Adrian K., Al-Thihli K., Ballhausen D., Bidiuk J., Bordugo A., Boyer M., Bratkovic D., Brunner-Krainz M. et al., 2022/08. Genetics in medicine, 24 (8) pp. 1781-1788. Peer-reviewed.
The Global Retinoblastoma Outcome Study: a prospective, cluster-based analysis of 4064 patients from 149 countries.
Global Retinoblastoma Study Group, Fabian I.D., 2022/08. The Lancet. Global health, 10 (8) pp. e1128-e1140. Peer-reviewed.
External Male Genitalia in Henoch-Schönlein Syndrome: A Systematic Review.
Montorfani-Janett VML, Montorfani G.E., Lavagno C., Gualco G., Bianchetti M.G., Milani G.P., Lava SAG, Cristallo Lacalamita M., 2022/07/30. Children, 9 (8) p. 1154. Peer-reviewed.
Gestational diabetes mellitus and offspring's carotid intima-media thickness at birth: MySweetHeart Cohort study.
Epure A.M., Di Bernardo S., Mivelaz Y., Estoppey Younes S., Chiolero A., Sekarski N., MySweetHeart Research Group, 2022/07/26. BMJ open, 12 (7) pp. e061649. Peer-reviewed.
 
Dynamics of disease characteristics and clinical management of critically ill COVID-19 patients over the time course of the pandemic: an analysis of the prospective, international, multicentre RISC-19-ICU registry.
Wendel-Garcia P.D., Moser A., Jeitziner M.M., Aguirre-Bermeo H., Arias-Sanchez P., Apolo J., Roche-Campo F., Franch-Llasat D., Kleger G.R., Schrag C. et al., 2022/07/04. Critical care, 26 (1) p. 199. Peer-reviewed.
Maternal Mental Health Symptom Profiles and Infant Sleep: A Cross-Sectional Survey.
Sandoz V., Lacroix A., Stuijfzand S., Bickle Graz M., Horsch A., 2022/07/04. Diagnostics, 12 (7) p. 1625. Peer-reviewed.
 
Blood cells molecules and diseases in 2022: A fountain of youth.
Blanc L., Renella R., 2022/07. Blood cells, molecules & diseases, 95 p. 102665. Peer-reviewed.
Childhood cancer and residential proximity to petrol stations: a nationwide registry-based case-control study in Switzerland and an updated meta-analysis.
Mazzei A., Konstantinoudis G., Kreis C., Diezi M., Ammann R.A., Zwahlen M., Kühni C., Spycher B.D., 2022/07. International archives of occupational and environmental health, 95 (5) pp. 927-938. Peer-reviewed.
 
Common Variable Immunodeficiency in a Carrier of the ADA2 R169Q Variant: Coincidence or Causality?
Moi L., Schnider C., Riccio O., Hershfield M.S., Candotti F., 2022/07. Journal of clinical immunology, 42 (5) pp. 959-961. Peer-reviewed.
 
Functional impairment of erythropoiesis in Congenital Dyserythropoietic Anaemia type I arises at the progenitor level.
Scott C., Bartolovic K., Clark S.A., Waithe D., Hill Q.A., Okoli S., Renella R., Ryan K., Cahill M.R., Higgs D.R. et al., 2022/07. British journal of haematology, 198 (1) pp. e10-e14. Peer-reviewed.
 
Heterozygous variants in CTR9, which encodes a major component of the PAF1 complex, are associated with a neurodevelopmental disorder.
Meuwissen M., Verstraeten A., Ranza E., Iwaszkiewicz J., Bastiaansen M., Mateiu L., Nemegeer M., Meester JAN, Afenjar A., Amaral M. et al., 2022/07. Genetics in medicine, 24 (7) pp. 1583-1591. Peer-reviewed.
Impact of Diagnostic Delay on Disease Course in Pediatric- versus Adult-Onset Patients with Ulcerative Colitis: Data from the Swiss IBD Cohort.
Schoepfer A.M., Tran VDC, Rossel J.B., Sokollik C., Spalinger J., Safroneeva E., von Graffenried T., Godat S., Hahnloser D., Vavricka S.R. et al., 2022/07. Inflammatory intestinal diseases, 7 (2) pp. 87-96. Peer-reviewed.
 
Modified Manufacturing Process Modulates CD19CAR T-cell Engraftment Fitness and Leukemia-Free Survival in Pediatric and Young Adult Subjects.
Ceppi F., Wilson A.L., Annesley C., Kimmerly G.R., Summers C., Brand A., Seidel K., Wu Q.V., Beebe A., Brown C. et al., 2022/07/01. Cancer immunology research, 10 (7) pp. 856-870. Peer-reviewed.
Postauthorization safety study of betaine anhydrous.
Mütze U., Gleich F., Garbade S.F., Plisson C., Aldámiz-Echevarría L., Arrieta F., Ballhausen D., Zielonka M., Petković Ramadža D., Baumgartner M.R. et al., 2022/07. Journal of inherited metabolic disease, 45 (4) pp. 719-733. Peer-reviewed.
Recommendations for standardized definitions, clinical assessment, and future research in pediatric clinically unsuspected venous thromboembolism: Communication from the ISTH SSC subcommittee on pediatric and neonatal thrombosis and hemostasis.
Betensky M., Kulkarni K., Rizzi M., Jones S., Brandão L.R., Faustino EVS, Goldenberg N.A., Sharathkumar A., 2022/07. Journal of thrombosis and haemostasis, 20 (7) pp. 1729-1734. Peer-reviewed.
 
Immunodéficience primaire - guide pratique pour les pédiatres
Arlabosse Tiphaine, Theodoropoulou Katerina, Candotti Fabio, 2022/06/30. Paediatrica, 33 (2).
Please stop the Russian-Ukrainian war - children will be more than grateful.
Lava SAG, de Luca D., Milani G.P., Leroy P., Ritz N., de Winter P., 2022/06. European journal of pediatrics, 181 (6) pp. 2183-2185. Peer-reviewed.
Sex-dependent influence of maternal predictors on fetal anthropometry in pregnancies with gestational diabetes mellitus.
Antoniou M.C., Gilbert L., Gross J., Rossel J.B., Fischer-Fumeaux CJ, Vial Y., Puder J.J., 2022/06/01. BMC pregnancy and childbirth, 22 (1) p. 460. Peer-reviewed.
 
When the progresses in neonatology lead to severe congenital nephron deficit: is there a pilot in the NICU?
Iacobelli S., Guignard J.P., 2022/06. Pediatric nephrology, 37 (6) pp. 1277-1284. Peer-reviewed.
Epidemiology of Kawasaki Disease in children in Switzerland: a national prospective cohort study.
Gradoux E., Di Bernardo S., Bressieux-Degueldre S., Mivelaz Y., Boulos Ksontini T., Prsa M., Sekarski N., 2022/05/23. Swiss medical weekly, 152 pp. w30171. Peer-reviewed.
Neonates with SARS-CoV-2 infection: spectrum of disease from a prospective nationwide observational cohort study.
Zimmermann P., Uka A., Buettcher M., Fougère Y., Plebani M., Relly C., Schmid H., Ritz N., Swiss Paediatric Surveillance Unit (SPSU), 2022/05/23. Swiss medical weekly, 152 pp. w30185. Peer-reviewed.
Paediatric refugees from Ukraine: guidance for health care providers.
Jaeger F.N., Berger C., Buettcher M., Depallens S., Heininger U., Heller Y., Kohns Vasconcelos M., Leforestier B., Pellaud N., Relly C. et al., 2022/05/23. Swiss medical weekly, 152 pp. w30200. Peer-reviewed.
Pesticides et santé humaine []
Maître S., Laubscher B., 2022/05/18. Revue medicale suisse, 18 (782) pp. 1017-1021. Peer-reviewed.
 
Long-term efficacy and safety of canakinumab in patients with mevalonate kinase deficiency: results from the randomised Phase 3 CLUSTER trial.
Jeyaratnam J., Simon A., Calvo I., Constantin T., Shcherbina A., Hofer M., Gattorno M., Martini A., Bader-Meunier B., Vastert B. et al., 2022/05/05. Rheumatology, 61 (5) pp. 2088-2094. Peer-reviewed.
Atypical primary varicella rash: Systematic literature review.
Mazzara C., Milani G.P., Lava SAG, Bianchetti M.G., Gualco G., Simonetti G.D., Camozzi P., Kottanattu L., 2022/05. Acta paediatrica, 111 (5) pp. 935-939. Peer-reviewed.
Auriculotemporal Frey syndrome not associated with surgery or diabetes: systematic review.
Betti C., Milani G.P., Lava SAG, Bianchetti M.G., Bronz G., Ramelli G.P., Goeggel Simonetti B., Bergmann M.M., 2022/05. European journal of pediatrics, 181 (5) pp. 2127-2134. Peer-reviewed.
 
Epigenetics provides a bridge between early nutrition and long-term health and a target for disease prevention.
Siddeek B., Simeoni U., 2022/05. Acta paediatrica, 111 (5) pp. 927-934. Peer-reviewed.
Evaluation of real-life outcome data of patients with spinal muscular atrophy treated with nusinersen in Switzerland.
Tscherter A., Rüsch C.T., Baumann D., Enzmann C., Hasselmann O., Jacquier D., Jung H.H., Kruijshaar M.E., Kuehni C.E., Neuwirth C. et al., 2022/05. Neuromuscular disorders, 32 (5) pp. 399-409. Peer-reviewed.
Impact of Overweight and Obesity on Disease Outcome in the Pediatric Swiss Inflammatory Bowel Disease Cohort.
von Graffenried T., Schoepfer A.M., Rossel J.B., Greuter T., Safroneeva E., Godat S., Henchoz S., Vavricka S.R., Sokollik C., Spalinger J. et al., 2022/05. JPGN reports, 3 (2) pp. e193. Peer-reviewed.
 
PASTEC - a prospective, single-center, randomized, cross-over trial of pure physical versus physical plus attentional training in children with cancer.
Fontana A., Matthey S., Mayor C., Dufour C., Destaillats A., Ballabeni P., Maeder S., Newman C.J., Beck Popovic M., Renella R. et al., 2022/05. Pediatric hematology and oncology, 39 (4) pp. 329-342. Peer-reviewed.
Endoscope-Assisted Extreme Lateral Supracerebellar Infratentorial Approach for Resection of Superior Cerebellar Peduncle Pilocytic Astrocytoma: Technical Note.
Papadimitriou K., Cossu G., Hewer E., Diezi M., Daniel R.T., Messerer M., 2022/04/29. Children, 9 (5) p. 640. Peer-reviewed.
 
Tubulointerstitial nephritis and uveitis syndrome: a systematic review.
Regusci A., Lava SAG, Milani G.P., Bianchetti M.G., Simonetti G.D., Vanoni F., 2022/04/25. Nephrology, dialysis, transplantation, 37 (5) pp. 876-886. Peer-reviewed.
Harcèlement-intimidation entre élèves - De la détection à la prise en charge : comment travailler ensemble ? [Mobbing amongst students : from detection to care : How to work together ?]
Redzepi V., Sangsue J., Lugon J., Depallens S., 2022/04/20. Revue medicale suisse, 18 (778) pp. 755-758. Peer-reviewed.
 
High Prevalence of Early Endocrine Disorders After Childhood Brain Tumors in a Large Cohort.
González Briceño L.G., Kariyawasam D., Samara-Boustani D., Giani E., Beltrand J., Bolle S., Fresneau B., Puget S., Sainte-Rose C., Alapetite C. et al., 2022/04/19. The Journal of clinical endocrinology and metabolism, 107 (5) pp. e2156-e2166. Peer-reviewed.
 
Mitapivat versus Placebo for Pyruvate Kinase Deficiency.
Al-Samkari H., Galactéros F., Glenthøj A., Rothman J.A., Andres O., Grace R.F., Morado-Arias M., Layton D.M., Onodera K., Verhovsek M. et al., 2022/04/14. The New England journal of medicine, 386 (15) pp. 1432-1442. Peer-reviewed.
Dietary Approaches to Iron Deficiency Prevention in Childhood-A Critical Public Health Issue.
Chouraqui J.P., 2022/04/12. Nutrients, 14 (8) p. 1604. Peer-reviewed.
Déficit en adénosine désaminase 2 : une maladie aux présentations multiples [Adenosine deaminase 2 deficiency: a disease with multiple presentations]
Caratsch L., Schnider C., Moi L., Theodoropoulou K., Candotti F., Hofer M., 2022/04/06. Revue medicale suisse, 18 (776) pp. 669-673. Peer-reviewed.
Diagnostic yield and cost analysis of electrocardiographic screening in Swiss paediatric athletes.
Albiński M., Saubade M., Menafoglio A., Meyer P., Capelli B., Perrin T., Trachsel L., Hagemeyer D., Casagrande D., Wilhelm M. et al., 2022/04. Journal of science and medicine in sport, 25 (4) pp. 281-286. Peer-reviewed.
Point-of-care HEMOstasis in children with congenital heart disease, the POCHEMO study: Rotational thromboelastometry and impedance aggregometry in children with cyanotic and non-cyanotic congenital heart disease
Perez Marie-Hélène, Longchamp David, Amiet Vivianne, Natterer Julia, Ferry Thomas, Boegli Yann, Mauron Sylvain, Dolci Mirco, Plaza-Wuthrich Sonia, Di Bernardo Stefano, 2022/04. International Journal of Cardiology Congenital Heart Disease p. 100383. Peer-reviewed.
Posterior reversible leukoencephalopathy syndrome associated with acute postinfectious glomerulonephritis: systematic review.
Orlando C., Milani G.P., Simonetti G.D., Goeggel Simonetti B., Lava SAG, Wyttenbach R., Bianchetti M.G., Cristallo Lacalamita M., 2022/04. Pediatric nephrology, 37 (4) pp. 833-841. Peer-reviewed.
Prenatal diagnosis of Aicardi syndrome based on a suggestive imaging pattern: A multicenter case-series.
Pomar L., Ochoa J., Cabet S., Huisman TAGM, Paladini D., Klaritsch P., Galmiche A., Prayer F., Gacio S., Haratz K. et al., 2022/04. Prenatal diagnosis, 42 (4) pp. 484-494. Peer-reviewed.
 
Treatment Decisions in Children With Asthma in a Real-Life Clinical Setting: The Swiss Paediatric Airway Cohort.
Ardura-Garcia C., Pedersen ESL, Mallet M.C., de Jong CCM, Barben J., Jochmann A., Jung A., Mueller-Suter D., Regamey N., Singer F. et al., 2022/04. The journal of allergy and clinical immunology. In practice, 10 (4) pp. 1038-1046.e8. Peer-reviewed.
Pain and sedation management and monitoring in pediatric intensive care units across Europe: an ESPNIC survey.
Marco D., von Borell F., Ramelet A.S., Sperotto F., Pokorna P., Brenner S., Mondardini M.C., Tibboel D., Amigoni A., Ista E. et al., 2022/03/31. Critical care, 26 (1) p. 88. Peer-reviewed.
 
Depressive Symptoms Predict Clinical Recurrence of Inflammatory Bowel Disease.
Jordi SBU, Lang B.M., Auschra B., von Känel R., Biedermann L., Greuter T., Schreiner P., Rogler G., Krupka N., Sulz M.C. et al., 2022/03/30. Inflammatory bowel diseases, 28 (4) pp. 560-571. Peer-reviewed.
 
An atypical presentation of borrelial lymphocytoma in 4 children.
Ventéjou S., Bourban-Jirounek C., Christen-Zaech S., Morren M.A., 2022/03. Annales de dermatologie et de venereologie, 149 (1) pp. 61-63. Peer-reviewed.
 
Biallelic variants in ZNF526 cause a severe neurodevelopmental disorder with microcephaly, bilateral cataract, epilepsy and simplified gyration.
Dentici M.L., Alesi V., Quinodoz M., Robens B., Guerin A., Lebon S., Poduri A., Travaglini L., Graziola F., Afenjar A. et al., 2022/03. Journal of medical genetics, 59 (3) pp. 262-269. Peer-reviewed.
 
Correction to: Factors associated with hospital and intensive care admission in paediatric SARS‑CoV‑2 infection: a prospective nationwide observational cohort study.
Uka A., Buettcher M., Bernhard-Stirnemann S., Fougère Y., Moussaoui D., Kottanattu L., Wagner N., Zimmermann P., Ritz N., Swiss Paediatric Surveillance Unit (SPSU), 2022/03. European journal of pediatrics, 181 (3) p. 1257. Peer-reviewed.
Factors associated with hospital and intensive care admission in paediatric SARS-CoV-2 infection: a prospective nationwide observational cohort study.
Uka A., Buettcher M., Bernhard-Stirnemann S., Fougère Y., Moussaoui D., Kottanattu L., Wagner N., Zimmermann P., Ritz N., Swiss Paediatric Surveillance Unit (SPSU), 2022/03. European journal of pediatrics, 181 (3) pp. 1245-1255. Peer-reviewed.
 
mRNA-based SARS-CoV-2 vaccination is associated with reduced ICU admission rate and disease severity in critically ill COVID-19 patients treated in Switzerland
Hilty Matthias Peter, Keiser Stefanie, Wendel Garcia Pedro D., Moser André, Schuepbach Reto A., Hilty Matthias P., Schüpbach Reto A., Garcia Pedro D. Wendel, Fumeaux Thierry, Guerci Philippe et al., 2022/03. Intensive Care Medicine, 48 (3) pp. 362-365.
 
Suspected Case of Drug-Induced Acute Respiratory Distress Syndrome following Trimethoprim-Sulfamethoxazole Treatment
Natterer Julia, Rizzati Frida, Perez Marie-Hélène, Longchamp David, Amiet Vivianne, DeHalleux Quentin, Dao Kim, Ferry Thomas, 2022/03. Journal of Pediatric Intensive Care, 11 (01) pp. 067-071.
Unexpected associations between respiratory viruses and bacteria with Pulmonary Function Testing in children suffering from Cystic Fibrosis (MUCOVIB study).
Scherz V., Caruana G., Taffé P., Brouillet R., Bertelli C., Jaton K., Fougère Y., Posfay-Barbe K.M., Mornand A., Rochat-Guignard I. et al., 2022/03. Journal of cystic fibrosis, 21 (2) pp. e158-e164. Peer-reviewed.
Acute abdominal emergency due to infectious enteritis: an observational study comparing Campylobacter spp. to other enteric pathogens in children.
Papathanasiou Terzi M.A., Prod'hom G., Croxatto A., Andrey V., Crisinel P.A., 2022/02/28. Swiss medical weekly, 152 pp. w30113. Peer-reviewed.
Atteinte respiratoire chez l’enfant en situation de polyhandicap sévère [Respiratory issues in children with severe neurological impairment]
Guerin S., Blanchon S., Mornand A., 2022/02/23. Revue medicale suisse, 18 (770) pp. 320-323. Peer-reviewed.
Comprendre, évaluer et traiter la douleur de l’enfant en situation de polyhandicap [Understand, assess and manage the pain of children with profound intellectual and multiple disabilities]
Jacquier D., Martin A.L., Mamie C., 2022/02/23. Revue medicale suisse, 18 (770) pp. 310-314. Peer-reviewed.
La pédiatrie à l’épreuve du polyhandicap.
Blanchon S., Schwitzgebel V.M., 2022/02/23. Revue medicale suisse, 18 (770) p. 303. Peer-reviewed.
Nouveaux outils d’évaluation du mouvement chez l’enfant avec handicap moteur [New tools for movement assessment in children with motor disabilities]
Carcreff L., Armand S., Bonnefoy-Mazure A., De Coulon G., Newman C.J., 2022/02/23. Revue medicale suisse, 18 (770) pp. 336-339. Peer-reviewed.
Problématiques digestives et nutritionnelles de l’enfant en situation de handicap [Digestive and nutritional problems of children with cerebral palsy]
Von Graffenried T., Gay G., Bianchi N., Nydegger A., Petit L.M., 2022/02/23. Revue medicale suisse, 18 (770) pp. 324-327. Peer-reviewed.
Transient Post-Natal Exposure to Xenoestrogens Induces Long-Term Alterations in Cardiac Calcium Signaling.
Tabasso C., Frossard M.P., Ducret C., Chehade H., Mauduit C., Benahmed M., Simeoni U., Siddeek B., 2022/02/23. Toxics, 10 (3) p. 102. Peer-reviewed.
Preparedness for Life-Threatening Situations in a Pediatric Tertiary-Care University Children's Hospital: A Survey.
Ulmer F., Pallivathukal S., Bartenstein A., Bieri R., Studer D., Lava SAG, 2022/02/16. Children, 9 (2) p. 271. Peer-reviewed.
Köbner and Pastia Signs in Acute Hemorrhagic Edema of Young Children: Systematic Literature Review.
Bronz G., Consolascio D., Bianchetti M.G., Rinoldi P.O., Betti C., Lava SAG, Milani G.P., 2022/02/15. Children, 9 (2) p. 265. Peer-reviewed.
 
Cohort profile: the Swiss Cerebral Palsy Registry (Swiss-CP-Reg) cohort study.
Belle F.N., Hunziker S., Fluss J., Grunt S., Juenemann S., Kuenzle C., Meyer-Heim A., Newman C.J., Ramelli G.P., Weber P. et al., 2022/02/14. Swiss medical weekly, 152 pp. w30139. Peer-reviewed.
 
Paediatric and adolescent athletes in Switzerland: age-adapted proposals for pre-participation cardiovascular evaluation.
Albiński M., Balmer C., Wilhelm M., Meyer P., Gass M., Schmied C., Menafoglio A., Kriemler S., Mivelaz Y., Stambach D. et al., 2022/02/14. Swiss medical weekly, 152 pp. w30128. Peer-reviewed.
Dosing strategies of imipenem in neonates based on pharmacometric modelling and simulation.
Dao K., Fuchs A., André P., Giannoni E., Decosterd L.A., Marchetti O., Asner S.A., Pfister M., Widmer N., Buclin T. et al., 2022/02/02. The Journal of antimicrobial chemotherapy, 77 (2) pp. 457-465. Peer-reviewed.
Are clinical pharmacology studies still needed in childhood acute lymphoblastic leukemia?
Conter V., Ceppi F., 2022/02/01. Haematologica, 107 (2) pp. 356-357. Peer-reviewed.
Contribution of imaging modalities to eosinophilic myocarditis diagnosis: a case report.
Farhat N., Bouhabib M., Joye R., Vallée J.P., Beghetti M., 2022/02. European heart journal. Case reports, 6 (2) pp. ytac058. Peer-reviewed.
Determinants of lung function changes in athletic swimmers. A review.
Rochat I., Côté A., Boulet L.P., 2022/02. Acta paediatrica, 111 (2) pp. 259-264. Peer-reviewed.
Pilot tone navigation for respiratory and cardiac motion-resolved free-running 5D flow MRI.
Falcão MBL, Di Sopra L., Ma L., Bacher M., Yerly J., Speier P., Rutz T., Prša M., Markl M., Stuber M. et al., 2022/02. Magnetic resonance in medicine, 87 (2) pp. 718-732. Peer-reviewed.
 
Protein intake pattern in non-breastfed infants and toddlers: A survey in a nationally representative sample of French children.
Chouraqui J.P., Darmaun D., Salmon-Legagneur A., Shamir R., 2022/02. Clinical nutrition, 41 (2) pp. 269-278. Peer-reviewed.
Quality of clinical practice guidelines and recommendations for the management of pain, sedation, delirium and iatrogenic withdrawal in pediatric intensive care: a systematic review protocol.
MacDonald I., Perez M.H., Amiet V., Trombert A., Ramelet A.S., 2022/02. BMJ paediatrics open, 6 (1) pp. e001293. Peer-reviewed.
The Development of an Early Intervention for Supporting Families of Persons With Acquired Brain Injuries: The SAFIR<sup>©</sup> Intervention.
de Goumoëns V., Ayigah K., Joye D., Ryvlin P., Ramelet A.S., 2022/02. Journal of family nursing, 28 (1) pp. 6-16. Peer-reviewed.
Off-label use of psychotropic drugs in a Swiss paediatric service: similar results from two different cohort studies.
Feka A., Di Paolo E.R., Pauchard J.Y., Mariguesa A., Gehri M., Sadeghipour F., 2022/01/31. Swiss Medical Weekly, 152 pp. w30124. Peer-reviewed.
TWIST1 expression is associated with high-risk neuroblastoma and promotes primary and metastatic tumor growth.
Sepporta M.V., Praz V., Balmas Bourloud K., Joseph J.M., Jauquier N., Riggi N., Nardou-Auderset K., Petit A., Scoazec J.Y., Sartelet H. et al., 2022/01/12. Communications biology, 5 (1) p. 42. Peer-reviewed.
 
Multiple neonicotinoids in children's cerebro-spinal fluid, plasma, and urine.
Laubscher B., Diezi M., Renella R., Mitchell EAD, Aebi A., Mulot M., Glauser G., 2022/01/11. Environmental health, 21 (1) p. 10. Peer-reviewed.
Are Clinical Impairments Related to Kinematic Gait Variability in Children and Young Adults With Cerebral Palsy?
Tabard-Fougère A., Rutz D., Pouliot-Laforte A., De Coulon G., Newman C.J., Armand S., Wegrzyk J., 2022. Frontiers in human neuroscience, 16 p. 816088. Peer-reviewed.
 
Congenital X-linked neutropenia with myelodysplasia and somatic tetraploidy due to a germline mutation in SEPT6.
Renella R., Gagne K., Beauchamp E., Fogel J., Perlov A., Sola M., Schlaeger T., Hofmann I., Shimamura A., Ebert B.L. et al., 2022/01/01. American journal of hematology, 97 (1) pp. 18-29. Peer-reviewed.
 
Contact allergy in a paediatric population observed in a tertiary referral centre in Belgium.
Noë E., Huygens S., Morren M.A., Garmyn M., Goossens A., Gilissen L., 2022/01. Contact dermatitis, 86 (1) pp. 3-8. Peer-reviewed.
 
Early Diagnosis of Abusive Head Trauma to Avoid Repetitive Shaking Events.
Depallens S., Favrod C., Maeder P., San Millan D., Cheseaux J.J., 2022. Global pediatric health, 9 pp. 2333794X211067037. Peer-reviewed.
 
Ensuring Sufficient Trough Plasma Concentrations for Broad-Spectrum Beta-Lactam Antibiotics in Children With Malignancies: Beware of Augmented Renal Clearance!
André P., Diezi L., Dao K., Crisinel P.A., Rothuizen L.E., Chtioui H., Decosterd L.A., Diezi M., Asner S., Buclin T., 2022. Frontiers in pediatrics, 9 p. 768438. Peer-reviewed.
 
Interventions to Decrease Carotid-Intima Media Thickness in Children and Adolescents With Type 1 Diabetes: A Systematic Review and Meta-Analysis.
Epure A.M., Anker D., Di Bernardo S., da Costa B.R., Sekarski N., Chiolero A., 2022. Frontiers in clinical diabetes and healthcare, 3 p. 882504. Peer-reviewed.
 
Line-field confocal optical coherence tomography of pyogenic granulomas in children: report of two cases.
Gallay C., Ventéjou S., Christen-Zaech S., 2022/01. Journal of the European Academy of Dermatology and Venereology, 36 (1) pp. e37-e39. Peer-reviewed.
Long term NIV in an infant with Hallermann-Streiff syndrome: A case report and overview of respiratory morbidity.
Guerin S., Blanchon S., de Halleux Q., Bayon V., Ferry T., 2022. Frontiers in pediatrics, 10 p. 1039964. Peer-reviewed.
Low number of neurosecretory vesicles in neuroblastoma impairs massive catecholamine release and prevents hypertension.
Mühlethaler-Mottet A., Uccella S., Marchiori D., La Rosa S., Daraspe J., Balmas Bourloud K., Beck Popovic M., Eugster P.J., Grouzmann E., Abid K., 2022. Frontiers in endocrinology, 13 p. 1027856. Peer-reviewed.
 
Mucosal Respiratory Syndrome: A Systematic Literature Review.
De Luigi G., Meoli M., Zgraggen L., Kottanattu L., Simonetti G.D., Terrani I., Bianchetti M.G., Lava SAG, Milani G.P., 2022. Dermatology, 238 (1) pp. 53-59. Peer-reviewed.
Navigating Disrupted Puberty: Development and Evaluation of a Mobile-Health Transition Passport for Klinefelter Syndrome.
Dwyer A.A., Héritier V., Llahana S., Edelman L., Papadakis G.E., Vaucher L., Pitteloud N., Hauschild M., 2022. Frontiers in endocrinology, 13 p. 909830. Peer-reviewed.
Necrotizing pneumonia in children: Chest computed tomography vs. lung ultrasound.
Carrard J., Bacher S., Rochat-Guignard I., Knebel J.F., Alamo L., Meuwly J.Y., Tenisch E., 2022. Frontiers in pediatrics, 10 p. 898402. Peer-reviewed.
Neuroblastic Tumors of the Adrenal Gland in Elderly Patients: A Case Report and Review of the Literature.
Deslarzes P., Djafarrian R., Matter M., La Rosa S., Gengler C., Beck-Popovic M., Zingg T., 2022. Frontiers in pediatrics, 10 p. 869518. Peer-reviewed.
 
Nicolau syndrome caused by Glatiramer.
Ciprian S., Lava SAG, Milani G.P., Bianchetti M.G., Consolascio D., Lardelli P.F., 2022/01. Multiple sclerosis and related disorders, 57 p. 103365. Peer-reviewed.
 
Presenting features of neuroblastoma with spinal canal invasion. A prospective study of the International Society of Pediatric Oncology Europe - Neuroblastoma (SIOPEN).
Sorrentino S., Ash S., Haupt R., Plantaz D., Schiff I., Hero B., Simon T., Kachanov D., Shamanskaya T., Kraal K. et al., 2022. Frontiers in pediatrics, 10 p. 1023498. Peer-reviewed.
Prospective Associations Between Maternal Depression and Infant Sleep in Women With Gestational Diabetes Mellitus.
Gilbert L., Sandoz V., Quansah D.Y., Puder J.J., Horsch A., 2022. Frontiers in psychology, 13 p. 926315. Peer-reviewed.
 
Response to: 'Do we need the PFAPA syndrome in adults with non-monogenic periodic fevers?' by Fayand et al.
Gattorno M., Hofer M., Vanoni F., Federici S., Cantarini L., Ruperto N., Paediatric Rheumatology International Trials Organisation (PRINTO) and the Eurofever Registry, 2022/01. Annals of the rheumatic diseases, 81 (1) pp. e16. Peer-reviewed.
 
Skin Eruptions in Acute Hemorrhagic Edema of Young Children: Systematic Review of the Literature.
Bronz G., Rinoldi P.O., Lavagno C., Bianchetti M.G., Lava SAG, Vanoni F., Milani G.P., Terrani I., Ferrarini A., 2022. Dermatology, 238 (3) pp. 397-403. Peer-reviewed.
Testicular tissue cryopreservation for fertility preservation in prepubertal and adolescent boys: A 6 year experience from a Swiss multi-center network.
Moussaoui D., Surbone A., Adam C., Diesch-Furlanetto T., Girardin C., Bénard J., Vidal I., Bernard F., Busiah K., Bouthors T. et al., 2022. Frontiers in pediatrics, 10 p. 909000. Peer-reviewed.
The Impact of COVID on Adolescent Mental Health, Self-Harm and Suicide: How Can Primary Care Provider Respond? A Position Paper of the European Academy of Pediatrics.
Michaud P.A., Michaud L., Mazur A., Hadjipanayis A., Kapp C., Ambresin A.E., 2022. Frontiers in pediatrics, 10 p. 800000. Peer-reviewed.
 
The role of nutrition in non-alcoholic fatty liver disease treatment in obese children.
Guimber D., Debray D., Bocquet A., Briend A., Chouraqui J.P., Darmaun D., Feillet F., Frelut M.L., Hankard R., Lapillonne A. et al., 2022/01. Archives de pediatrie, 29 (1) pp. 1-11. Peer-reviewed.
Vaccination completeness in children with rheumatic diseases: A longitudinal, observational multicenter cohort study in Switzerland.
Welzel T., Kuemmerle-Deschner J., Sluka C., Carlomagno R., Cannizzaro Schneider E., Kaiser D., Hofer M., Hentgen V., Woerner A., 2022. Frontiers in pediatrics, 10 p. 993811. Peer-reviewed.
SwissPedData: Standardising hospital records for the benefit of paediatric research.
Jaboyedoff M., Rakic M., Bachmann S., Berger C., Diezi M., Fuchs O., Frey U., Gervaix A., Glücksberg A.S., Grotzer M. et al., 2021/12/20. Swiss medical weekly, 151 pp. w30069. Peer-reviewed.
 
Characterization of HLH-like manifestations as a CRS variant in patients receiving CD22 CAR T cells.
Lichtenstein D.A., Schischlik F., Shao L., Steinberg S.M., Yates B., Wang H.W., Wang Y., Inglefield J., Dulau-Florea A., Ceppi F. et al., 2021/12/16. Blood, 138 (24) pp. 2469-2484. Peer-reviewed.
Decreased Fetal Movements: A Sign of Placental SARS-CoV-2 Infection with Perinatal Brain Injury.
Favre G., Mazzetti S., Gengler C., Bertelli C., Schneider J., Laubscher B., Capoccia R., Pakniyat F., Ben Jazia I., Eggel-Hort B. et al., 2021/12/15. Viruses, 13 (12) p. 2517. Peer-reviewed.
 
A knock-in rat model unravels acute and chronic renal toxicity in glutaric aciduria type I.
Gonzalez Melo M., Fontana A.O., Viertl D., Allenbach G., Prior J.O., Rotman S., Feichtinger R.G., Mayr J.A., Costanzo M., Caterino M. et al., 2021/12. Molecular genetics and metabolism, 134 (4) pp. 287-300. Peer-reviewed.
 
Acute hemorrhagic edema: Uncommon features.
Rinoldi P.O., Bronz G., Ferrarini A., Mangas C., Bianchetti M.G., Chelleri C., Lava SAG, Milani G.P., 2021/12. Journal of the American Academy of Dermatology, 85 (6) pp. 1620-1621. Peer-reviewed.
 
Determinants of Discordance Between Criteria for Inactive Disease and Low Disease Activity in Juvenile Idiopathic Arthritis.
Giancane G., Campone C., Gicchino M.F., Alongi A., Bava C., Rosina S., Boyko Y., Martin N., El Miedany Y., Harjacek M. et al., 2021/12. Arthritis care & research, 73 (12) pp. 1722-1729. Peer-reviewed.
 
Heiminfusionstherapie bei Morbus Pompe: Konsensusempfehlungen für den deutschsprachigen Raum [Home infusion therapy for Pompe disease: Recommendations for German-speaking countries]
Hahn A., Lampe C., Boentert M., Hundsberger T., Löscher W., Wenninger S., Ziegler A., Lagler F., Ballhausen D., Schlegel T. et al., 2021/12. Fortschritte der Neurologie-Psychiatrie, 89 (12) pp. 630-636. Peer-reviewed.
 
Kidney Tubular Damage Secondary to Deferasirox: Systematic Literature Review.
Scoglio M., Cappellini M.D., D'Angelo E., Bianchetti M.G., Lava SAG, Agostoni C., Milani G.P., 2021/12/01. Children, 8 (12) p. 1104. Peer-reviewed.
Learning to manage diabetes using a flash glucose monitoring device at a summer camp: A collective appropriation process
Danesi Giada, Pralong Mélody, Grossen Michèle, Panese Francesco, Hauschild Michael, Burnand Bernard, 2021/12. Learning, Culture and Social Interaction, 31 p. 100570. Peer-reviewed.
Necrotizing soft-tissue infections in pediatric intensive care: a prospective multicenter case-series study
Dauger Stéphane, Blondé Renaud, Brissaud Olivier, Marcoux Marie-Odile, Angoulvant François, Levy Michael, 2021/12. Critical Care, 25 (1).
Parental resistance to oral vitamin K prophylaxis was much more common in Swiss birthing centres than private or public hospitals.
Knüsli J., Desseauve D., Laubscher B., 2021/12. Acta paediatrica, 110 (12) pp. 3365-3366. Peer-reviewed.
The impact of disease severity on the psychological well-being of youth affected by an inborn error of metabolism and their families: A one-year longitudinal study.
Dimitrova N., Glaus J., Urben S., Wüthrich V., Morisod Harari M., Ballhausen D., 2021/12. Molecular genetics and metabolism reports, 29 p. 100795. Peer-reviewed.
 
The landscape of pediatric Diamond-Blackfan anemia in Switzerland: genotype and phenotype characteristics.
Vogel N., Schmugge M., Renella R., Waespe N., Hengartner H., Swiss Paediatric Oncology Group (SPOG) Hematology Working Group, 2021/12. European journal of pediatrics, 180 (12) pp. 3581-3585. Peer-reviewed.
 
Treatment of Catheter-Related Arterial Thrombosis in Children: A 15-Year Single- Center Experience.
Crameri O., Brotschi B., Achini F., Rizzi M., Albisetti M., 2021/12. The Journal of pediatrics, 239 pp. 182-186. Peer-reviewed.
 
Undiagnosed Phenylketonuria Can Exist Everywhere: Results From an International Survey.
van Wegberg AMJ, Trefz F., Gizewska M., Ahmed S., Chabraoui L., Zaki M.S., Maillot F., van Spronsen F.J., Study Group on Missed PKU and Missed to Follow-Up, 2021/12. The Journal of pediatrics, 239 pp. 231-234.e2. Peer-reviewed.
 
Smarter medicine: «Liste Top-5» pour la pédiatrie
Wyder C., Gut D., Ramelli G.P., Ammann R., Berthet G., Di Paolo E.R., Gehri M., Huber B., Schnyder S., Sidler M., 2021/11/18. pharmaJournal 11 pp. 11-12.
 
Consumption of Ultraprocessed Foods in a Sample of Adolescents With Obesity and Its Association With the Food Educational Style of Their Parent: Observational Study.
Borloz S., Bucher Della Torre S., Collet T.H., Jotterand Chaparro C., 2021/11/15. JMIR pediatrics and parenting, 4 (4) pp. e28608. Peer-reviewed.
Current practice of transitional care for adolescents and young adults in Swiss paediatric and adult rheumatology centres.
Berben L., Sigg N., Daly M.L., Bachmann S., Baer W., Berthet G., Bolt I., Dan D., Enderlin Steiger S., Fröhlich J. et al., 2021/11/08. Swiss medical weekly, 151 pp. w30046. Peer-reviewed.
 
Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings.
Wilson M.P., Garanto A., Pinto E Vairo F., Ng B.G., Ranatunga W.K., Ventouratou M., Baerenfaenger M., Huijben K., Thiel C., Ashikov A. et al., 2021/11/04. American journal of human genetics, 108 (11) pp. 2130-2144. Peer-reviewed.
 
Characteristics of low-acuity paediatric emergency department consultations in two tertiary hospitals in Switzerland: a retrospective observational study
Jaboyedoff Manon, Starvaggi Carl, Suris Joan-Carles, Kuehni Claudia E, Gehri Mario, Keitel Kristina, Pellaton Rachel, 2021/11. BMJ Paediatrics Open, 5 (1) pp. e001267.
External background ionizing radiation and childhood cancer: Update of a nationwide cohort analysis.
Mazzei-Abba A., Folly C.L., Kreis C., Ammann R.A., Adam C., Brack E., Egger M., Kuehni C.E., Spycher B.D., 2021/11. Journal of environmental radioactivity, 238-239 p. 106734. Peer-reviewed.
Recapitulation of erythropoiesis in congenital dyserythropoietic anaemia type I (CDA-I) identifies defects in differentiation and nucleolar abnormalities.
Scott C., Downes D.J., Brown J.M., Beagrie R., Olijnik A.A., Gosden M., Schwessinger R., Fisher C.A., Rose A., Ferguson DJP et al., 2021/11/01. Haematologica, 106 (11) pp. 2960-2970. Peer-reviewed.
Respiratory symptoms do not reflect functional impairment in early CF lung disease.
Korten I., Oestreich M.A., Frey U., Moeller A., Jung A., Spinas R., Mueller-Suter D., Trachsel D., Rochat I., Spycher B. et al., 2021/11. Journal of cystic fibrosis, 20 (6) pp. 957-964. Peer-reviewed.
 
Severe Lactic Acidosis in a Critically Ill Child: Think About Thiamine! A Case Report.
Didisheim C., Ballhausen D., Choucair M.L., Longchamp D., Natterer J., Ferry T., Perez M.H., Amiet V., 2021/11. Journal of pediatric intensive care, 10 (4) pp. 307-310. Peer-reviewed.
 
Structural brain abnormalities in epilepsy with myoclonic atonic seizures.
Denervaud S., Korff C., Fluss J., Kalser J., Roulet-Perez E., Hagmann P., Lebon S., 2021/11. Epilepsy research, 177 p. 106771. Peer-reviewed.
 
Smarter medicine: «Liste Top-5» pour la pédiatrie
Wyder C., Gut D, Ramelli G.P., Ammann R., Berthet G., Di Paolo E.R., Gehri M., Huber B., Schnyder S., Sidler M., 2021/10/30. GSASA eNews 3 pp. 1-4.
De novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social cognition deficit but no seizures.
Royer-Bertrand B., Jequier Gygax M., Cisarova K., Rosenfeld J.A., Bassetti J.A., Moldovan O., O'Heir E., Burrage L.C., Allen J., Emrick L.T. et al., 2021/10/26. Molecular autism, 12 (1) p. 69. Peer-reviewed.
Frequency and Prognostic Impact of ALK Amplifications and Mutations in the European Neuroblastoma Study Group (SIOPEN) High-Risk Neuroblastoma Trial (HR-NBL1).
Bellini A., Pötschger U., Bernard V., Lapouble E., Baulande S., Ambros P.F., Auger N., Beiske K., Bernkopf M., Betts D.R. et al., 2021/10/20. Journal of clinical oncology, 39 (30) pp. 3377-3390. Peer-reviewed.
 
Pediatric Encephalopathy: Clinical, Biochemical and Cellular Insights into the Role of Gln52 of GNAO1 and GNAI1 for the Dominant Disease.
Solis G.P., Kozhanova T.V., Koval A., Zhilina S.S., Mescheryakova T.I., Abramov A.A., Ishmuratov E.V., Bolshakova E.S., Osipova K.V., Ayvazyan S.O. et al., 2021/10/14. Cells, 10 (10) p. 2749. Peer-reviewed.
 
Smarter medicine: «Liste Top-5» pour la pédiatrie
Wyder C., Gut D., Ramelli G.P., Ammann R., Berthet G., Di Paolo E.R., Gehri M., Huber B., Schnyder S, Sidler M, 2021/10/06. Primary and Hospital Care, 21 (10) pp. 313-315.
 
Cerebriform sebaceous nevus: a subtype of organoid nevus due to specific postzygotic FGFR2 mutations.
Theiler M., Weibel L., Christen-Zaech S., Carmignac V., Sorlin A., Neuhaus K., Chevarin M., Thauvin-Robinet C., Philippe C., Faivre L. et al., 2021/10. Journal of the European Academy of Dermatology and Venereology, 35 (10) pp. 2085-2090. Peer-reviewed.
 
Correction: Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations.
Rodan L.H., Spillmann R.C., Kurata H.T., Lamothe S.M., Maghera J., Jamra R.A., Alkelai A., Antonarakis S.E., Atallah I., Bar-Yosef O. et al., 2021/10. Genetics in medicine, 23 (10) p. 2016. Peer-reviewed.
 
Diagnosis of primary ciliary dyskinesia: discrepancy according to different algorithms.
Nussbaumer M., Kieninger E., Tschanz S.A., Savas S.T., Casaulta C., Goutaki M., Blanchon S., Jung A., Regamey N., Kuehni C.E. et al., 2021/10. ERJ open research, 7 (4) pp. 00353-2021. Peer-reviewed.
Hematopoietic Cell Transplantation Cures Adenosine Deaminase 2 Deficiency: Report on 30 Patients.
Hashem H., Bucciol G., Ozen S., Unal S., Bozkaya I.O., Akarsu N., Taskinen M., Koskenvuo M., Saarela J., Dimitrova D. et al., 2021/10. Journal of clinical immunology, 41 (7) pp. 1633-1647. Peer-reviewed.
 
Interobserver variability in the classification of childhood maculopapular cutaneous mastocytosis.
Torrelo A., Vergara-de-la-Campa L., Azaña J.M., Greenberger S., Lam J.M., Lawley L.P., Morren M.A., Schaffer J.V., García-Doval I., Matito A. et al., 2021/10. Journal of the European Academy of Dermatology and Venereology, 35 (10) pp. 2079-2084. Peer-reviewed.
Machine learning using the extreme gradient boosting (XGBoost) algorithm predicts 5-day delta of SOFA score at ICU admission in COVID-19 patients
Montomoli Jonathan, Romeo Luca, Moccia Sara, Bernardini Michele, Migliorelli Lucia, Berardini Daniele, Donati Abele, Carsetti Andrea, Bocci Maria Grazia, Wendel Garcia Pedro David et al., 2021/10. Journal of Intensive Medicine, 1 (2) pp. 110-116.
Malignancies among children and young people with HIV in Western and Eastern Europe and Thailand.
The European Pregnancy and Paediatric Infections Cohort Collaboration (EPPICC) study group, Crisinel Pierre-Alex, 2021/10/01. AIDS, 35 (12) pp. 1973-1985. Peer-reviewed.
 
Minimally Invasive Versus Standard Surgery in Idiopathic Scoliosis Patients: A Comparative Study.
Sarwahi V., Galina J.M., Hasan S., Atlas A., Ansorge A., De Bodman C., Lo Y., Amaral T.D., Dayer R., 2021/10/01. Spine, 46 (19) pp. 1326-1335. Peer-reviewed.
 
Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations.
Rodan L.H., Spillmann R.C., Kurata H.T., Lamothe S.M., Maghera J., Jamra R.A., Alkelai A., Antonarakis S.E., Atallah I., Bar-Yosef O. et al., 2021/10. Genetics in medicine, 23 (10) pp. 1922-1932. Peer-reviewed.
 
Travel burden and clinical presentation of retinoblastoma: analysis of 1024 patients from 43 African countries and 518 patients from 40 European countries.
Fabian I.D., Stacey A.W., Foster A., Kivelä T.T., Munier F.L., Keren-Froim N., Gomel N., Cassoux N., Sagoo M.S., Reddy M.A. et al., 2021/10. The British journal of ophthalmology, 105 (10) pp. 1435-1443. Peer-reviewed.
 
Use of induction therapy in pediatric heart transplant recipients in Switzerland - Analysis of the Swiss national database.
Schweiger M., Erdil T., Di Bernardo S., Balmer C., Yildiz M., Kadner A., Swiss Transplant Cohort Study, 2021/10. Transplant immunology, 68 p. 101443. Peer-reviewed.
Correction to: Elevated lactate in Mauriac syndrome: still a mystery.
Touilloux B., Lu H., Campos-Xavier B., Superti-Furga A., Hauschild M., Bouthors T., Tran C., 2021/09/30. BMC endocrine disorders, 21 (1) p. 194. Peer-reviewed.
Endothelial Colony-Forming Cells Dysfunctions Are Associated with Arterial Hypertension in a Rat Model of Intrauterine Growth Restriction.
Simoncini S., Coppola H., Rocca A., Bachmann I., Guillot E., Zippo L., Dignat-George F., Sabatier F., Bedel R., Wilson A. et al., 2021/09/21. International journal of molecular sciences, 22 (18) p. 10159. Peer-reviewed.
Clinical data for paediatric research: the Swiss approach : Proceedings of the National Symposium in Bern, Switzerland, Dec 5-6, 2019.
Rakic M., Jaboyedoff M., Bachmann S., Berger C., Diezi M., do Canto P., Forrest C.B., Frey U., Fuchs O., Gervaix A. et al., 2021/09/20. BMC proceedings, 15 (Suppl 13) p. 19. Peer-reviewed.
Parents' Perspectives on Adaptive Sports in Children with Profound Intellectual and Multiple Disabilities.
Neyroud M.C., Newman C.J., 2021/09/16. Children, 8 (9) p. 815. Peer-reviewed.
Agenesis of the Corpus Callosum with Facial Dysmorphism and Intellectual Disability in Sibs Associated with Compound Heterozygous KDM5B Variants.
Lebon S., Quinodoz M., Peter V.G., Gengler C., Blanchard G., Cina V., Campos-Xavier B., Rivolta C., Superti-Furga A., 2021/09/10. Genes, 12 (9) p. 1397. Peer-reviewed.
 
Biomarkers for the central nervous system complications of sickle cell disease: are we there yet?
Renella R., 2021/09. Proteomics. Clinical applications, 15 (5) pp. e2100026. Peer-reviewed.
 
Body composition assessment in children with inflammatory bowel disease: A comparison of different methods.
von Graffenried T., Godin J.P., Schoepfer A., Breton I., Martin F.P., Nydegger A., 2021/09. Journal of paediatrics and child health, 57 (9) pp. 1414-1419. Peer-reviewed.
 
Epidemiology of Pierre-Robin sequence in Europe: A population-based EUROCAT study.
Santoro M., Coi A., Barišić I., Pierini A., Addor M.C., Baldacci S., Ballardini E., Boban L., Braz P., Cavero-Carbonell C. et al., 2021/09. Paediatric and perinatal epidemiology, 35 (5) pp. 530-539. Peer-reviewed.
Exposure to alirocumab during the first trimester of pregnancy: A case report.
Vuignier Y., Beaud F., Kosinski C., Panchaud A., Lebon S., Baud D., Kissling S., Collet T.H., 2021/09/01. Birth defects research, 113 (15) pp. 1156-1160. Peer-reviewed.
 
The fate of orally administered sialic acid: First insights from patients with N-acetylneuraminic acid synthase deficiency and control subjects.
Tran C., Turolla L., Ballhausen D., Buros S.C., Teav T., Gallart-Ayala H., Ivanisevic J., Faouzi M., Lefeber D.J., Ivanovski I. et al., 2021/09. Molecular genetics and metabolism reports, 28 p. 100777. Peer-reviewed.
Transition from paediatric to adult care: What about the healthy ones?
Mora-Monteros M., Barrense-Dias Y., Auderset D., Stadelmann S., Senn N., Suris J.C., 2021/09/01. Swiss medical weekly, 151 (35-36) pp. w30019. Peer-reviewed.
 
Use of diuretics in the neonatal period.
Guignard J.P., Iacobelli S., 2021/09. Pediatric nephrology, 36 (9) pp. 2687-2695. Peer-reviewed.
 
Utilizing the prognostic impact of minimal residual disease in treatment decisions for pediatric acute lymphoblastic leukemia.
Ceppi F., Rizzati F., Colombini A., Conter V., Cazzaniga G., 2021/09. Expert review of hematology, 14 (9) pp. 795-807. Peer-reviewed.
Interseasonal RSV infections in Switzerland - rapid establishment of a clinician-led national reporting system (RSV EpiCH).
von Hammerstein A.L., Aebi C., Barbey F., Berger C., Buettcher M., Casaulta C., Egli A., Gebauer M., Guerra B., Kahlert C. et al., 2021/08/30. Swiss medical weekly, 151 pp. w30057. Peer-reviewed.
Which laboratory technique is used for the blood sodium analysis in clinical research? A systematic review.
Malandrini S., Lava SAG, Bianchetti M.G., Meani F., Faré P.B., Camozzi P., Cugliari M., Agostoni C., Milani G.P., 2021/08/26. Clinical chemistry and laboratory medicine, 59 (9) pp. 1501-1506. Peer-reviewed.
 
A Comprehensive Approach for the Diagnosis of Primary Ciliary Dyskinesia-Experiences from the First 100 Patients of the PCD-UNIBE Diagnostic Center.
Müller L., Savas S.T., Tschanz S.A., Stokes A., Escher A., Nussbaumer M., Bullo M., Kuehni C.E., Blanchon S., Jung A. et al., 2021/08/25. Diagnostics, 11 (9) p. 1540. Peer-reviewed.
 
Elevated lactate in Mauriac syndrome: still a mystery.
Touilloux B., Lu H., Campos-Xavier B., Superti-Furga A., Hauschild M., Bouthors T., Tran C., 2021/08/21. BMC endocrine disorders, 21 (1) p. 172. Peer-reviewed.
 
Randomized Trial of Two Induction Therapy Regimens for High-Risk Neuroblastoma: HR-NBL1.5 International Society of Pediatric Oncology European Neuroblastoma Group Study.
Garaventa A., Poetschger U., Valteau-Couanet D., Luksch R., Castel V., Elliott M., Ash S., Chan GCF, Laureys G., Beck-Popovic M. et al., 2021/08/10. Journal of clinical oncology, 39 (23) pp. 2552-2563. Peer-reviewed.
 
Application of the OMERACT synovitis ultrasound scoring system in juvenile idiopathic arthritis: a multicenter reliability exercise.
Rossi-Semerano L., Breton S., Semerano L., Boubaya M., Ohanyan H., Bossert M., Boiu S., Chatelus E., Durand G., Jean S. et al., 2021/08/02. Rheumatology, 60 (8) pp. 3579-3587. Peer-reviewed.
 
Health behaviour of women with Turner Syndrome.
Santi M., Flück C.E., Hauschild M., Kuhlmann B., Kuehni C.E., Sommer G., 2021/08. Acta paediatrica, 110 (8) pp. 2424-2429. Peer-reviewed.
 
Hemodynamic and prognostic impact of the diastolic pulmonary arterial pressure in children with pulmonary arterial hypertension-a registry-based analysis.
Apitz C., Berger RMF, Ivy D.D., Humpl T., Bonnet D., Beghetti M., Schranz D., Latus H., 2021/08. Cardiovascular diagnosis and therapy, 11 (4) pp. 1037-1047. Peer-reviewed.
Performance of RT-PCR on Saliva Specimens Compared With Nasopharyngeal Swabs for the Detection of SARS-CoV-2 in Children: A Prospective Comparative Clinical Trial.
Fougère Y., Schwob J.M., Miauton A., Hoegger F., Opota O., Jaton K., Brouillet R., Greub G., Genton B., Gehri M. et al., 2021/08/01. The Pediatric infectious disease journal, 40 (8) pp. e300-e304. Peer-reviewed.
 
Trimethoprim-associated electrolyte and acid-base abnormalities.
Memoli E., Faré P.B., Camozzi P., Simonetti G.D., Bianchetti M.G., Lava S.A., Milani G.P., 2021/08. Minerva medica, 112 (4) pp. 500-505. Peer-reviewed.
Eculizumab as a New Treatment for Severe Acute Post-infectious Glomerulonephritis: Two Case Reports.
Chehade H., Guzzo G., Cachat F., Rotman S., Teta D., Pantaleo G., Sadallah S., Sharma A., Rosales I.A., Tolkoff-Rubin N. et al., 2021/07/31. Frontiers in medicine, 8 p. 663258. Peer-reviewed.
Current Indications of Secondary Enucleation in Retinoblastoma Management: A Position Paper on Behalf of the European Retinoblastoma Group (EURbG).
Stathopoulos C., Lumbroso-Le Rouic L., Moll A.C., Parulekar M., Maeder P., Doz F., Jenkinson H., Beck Popovic M., Chantada G., Munier F.L., 2021/07/06. Cancers, 13 (14) p. 3392. Peer-reviewed.
A live single-cell reporter assay links intratumor heterogeneity to metastatic proclivity in Ewing sarcoma.
Keskin T., Rucci B., Cornaz-Buros S., Martin P., Fusco C., Broye L., Cisarova K., Perez E.M., Letovanec I., La Rosa S. et al., 2021/07. Science advances, 7 (27) pp. eabf9394. Peer-reviewed.
 
CFTR-function and ventilation inhomogeneity in individuals with cystic fibrosis.
Bernasconi N., Kieninger E., Shaw M., Kurz J., Moeller A., Ratjen F., Rochat I., Stanojevic S., Singer F., 2021/07. Journal of cystic fibrosis, 20 (4) pp. 641-647. Peer-reviewed.
 
Pediatric cranial osteoblastoma: Technical note of surgical treatment and review of the literature.
Garvayo M., Cossu G., Broome M., Maeder P., Renella R., Maduri R., Daniel R.T., Messerer M., 2021/07. Neuro-Chirurgie, 67 (4) pp. 383-390. Peer-reviewed.
Serum NGAL, BNP, PTH, and albumin do not improve glomerular filtration rate estimating formulas in children.
Mouron-Hryciuk J., Cachat F., Parvex P., Perneger T., Chehade H., 2021/07. European journal of pediatrics, 180 (7) pp. 2223-2228. Peer-reviewed.
 
Spontaneous Partial Remission in a Child With B-Lineage Acute Lymphoblastic Leukemia and Chickenpox: A Role For Acyclovir?
Chtioui H., Ceppi F., Renella R., Diezi M., 2021/07/01. Journal of pediatric hematology/oncology, 43 (5) pp. e711-e714. Peer-reviewed.
 
Suboptimal vaccination coverage of recommended vaccines among French children with recurrent autoinflammatory fever syndromes: a study from the Juvenile Inflammatory Rheumatism cohort.
Rollet-Cohen V., Mirete J., Dingulu G., Hofer F., Hofer M., Woerner A., Dommergues M.A., Hentgen V., 2021/07. Clinical rheumatology, 40 (7) pp. 2855-2864. Peer-reviewed.
 
Type D personality is associated with depressive symptoms and clinical activity in inflammatory bowel disease.
Jordi SBU, Botte F., Lang B.M., Greuter T., Krupka N., Auschra B., Schreiner P., Sulz M.C., Biedermann L., von Känel R. et al., 2021/07. Alimentary pharmacology & therapeutics, 54 (1) pp. 53-67. Peer-reviewed.
Chronic Nonbacterial Osteomyelitis in Children.
Koryllou A., Mejbri M., Theodoropoulou K., Hofer M., Carlomagno R., 2021/06/25. Children, 8 (7) p. 551. Peer-reviewed.
Endothelial Progenitor Cells Dysfunctions and Cardiometabolic Disorders: From Mechanisms to Therapeutic Approaches.
Peyter A.C., Armengaud J.B., Guillot E., Yzydorczyk C., 2021/06/22. International journal of molecular sciences, 22 (13) p. 6667. Peer-reviewed.
 
Reference Ranges for the Diameter of the Right Ventricular Outflow Tract by Cardiovascular Magnetic Resonance and Comparison with Echocardiographic Measurements
Prsa Milan, Kappeler Adrian, 2021/06/15. Asian Journal of Research in Cardiovascular Diseases.
 
Magnesium Metabolism in Chronic Alcohol-Use Disorder: Meta-Analysis and Systematic Review.
Vanoni F.O., Milani G.P., Agostoni C., Treglia G., Faré P.B., Camozzi P., Lava SAG, Bianchetti M.G., Janett S., 2021/06/07. Nutrients, 13 (6) p. 1959. Peer-reviewed.
Adjuvant therapy of histopathological risk factors of retinoblastoma in Europe: A survey by the European Retinoblastoma Group (EURbG).
Dittner-Moormann S., Reschke M., Abbink FCH, Aerts I., Atalay H.T., Fedorovna Bobrova N., Biewald E., Brecht I.B., Caspi S., Cassoux N. et al., 2021/06. Pediatric blood & cancer, 68 (6) pp. e28963. Peer-reviewed.
Atypical hematological manifestation of celiac disease: A case report of aplastic anemia in a 2-year-old child and review of the literature.
von Graffenried T., Rizzi M., Russo M., Nydegger A., Kayemba-Kay's S., 2021/06. Pediatric investigation, 5 (2) pp. 159-162. Peer-reviewed.
 
Immune deficiency, autoimmune disease and intellectual disability: A pleiotropic disorder caused by biallelic variants in the TPP2 gene.
Atallah I., Quinodoz M., Campos-Xavier B., Peter V.G., Fouriki A., Bonvin C., Bottani A., Kumps C., Angelini F., Bellutti Enders F. et al., 2021/06. Clinical genetics, 99 (6) pp. 780-788. Peer-reviewed.
 
Impact of early sports specialisation on paediatric ECG.
Albiński M., Saubade M., Benaim C., Menafoglio A., Meyer P., Capelli B., Perrin T., Trachsel L., Hagemeyer D., Casagrande D. et al., 2021/06. Scandinavian journal of medicine & science in sports, 31 (6) pp. 1335-1341. Peer-reviewed.
 
Maturation of glomerular filtration rate in neonates and infants: an overview.
Iacobelli S., Guignard J.P., 2021/06. Pediatric nephrology, 36 (6) pp. 1439-1446. Peer-reviewed.
 
Perianal streptococcal disease in childhood: systematic literature review.
Gualtieri R., Bronz G., Bianchetti M.G., Lava SAG, Giuliano E., Milani G.P., Jermini LMM, 2021/06. European journal of pediatrics, 180 (6) pp. 1867-1874. Peer-reviewed.
 
Risk of severe allergic reactions to COVID-19 vaccines among patients with allergic skin diseases - practical recommendations. A position statement of ETFAD with external experts.
Ring J., Worm M., Wollenberg A., Thyssen J.P., Jakob T., Klimek L., Bangert C., Barbarot S., Bieber T., de Bruin-Weller M.S. et al., 2021/06. Journal of the European Academy of Dermatology and Venereology, 35 (6) pp. e362-e365. Peer-reviewed.
 
Secondary enucleated retinoblastoma with MYCN amplification.
Moulin A.P., Stathopoulos C., Marcelli F., Schoumans Pouw J., Beck-Popovic M., Munier F.L., 2021/06. Ophthalmic genetics, 42 (3) pp. 354-359. Peer-reviewed.
 
The first knock-in rat model for glutaric aciduria type I allows further insights into pathophysiology in brain and periphery.
Gonzalez Melo M., Remacle N., Cudré-Cung H.P., Roux C., Poms M., Cudalbu C., Barroso M., Gersting S.W., Feichtinger R.G., Mayr J.A. et al., 2021/06. Molecular genetics and metabolism, 133 (2) pp. 157-181. Peer-reviewed.
 
Visceral serositis in acute Epstein-Barr virus infectious mononucleosis.
Cattaneo L., Milani G.P., Lava S.A., Kottanattu L., Renzi S., Faré P., Bianchetti M.G., Vanoni F., 2021/06. Minerva medica, 112 (3) pp. 415-417. Peer-reviewed.
Implications of early respiratory support strategies on disease progression in critical COVID-19: a matched subanalysis of the prospective RISC-19-ICU cohort.
Wendel Garcia P.D., Aguirre-Bermeo H., Buehler P.K., Alfaro-Farias M., Yuen B., David S., Tschoellitsch T., Wengenmayer T., Korsos A., Fogagnolo A. et al., 2021/05/25. Critical care, 25 (1) p. 175. Peer-reviewed.
Dietary Intake and Diet Quality of Adult Survivors of Childhood Cancer and the General Population: Results from the SCCSS-Nutrition Study.
Belle F.N., Chatelan A., Kasteler R., Mader L., Guessous I., Beck-Popovic M., Ansari M., Kuehni C.E., Bochud M., 2021/05/22. Nutrients, 13 (6) p. 1767. Peer-reviewed.
 
Rotavirus disease and health care utilisation among children under 5 years of age in highly developed countries: A systematic review and meta-analysis.
Ardura-Garcia C., Kreis C., Rakic M., Jaboyedoff M., Mallet M.C., Low N., Kuehni C.E., 2021/05/21. Vaccine, 39 (22) pp. 2917-2928. Peer-reviewed.
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