Results 31 to 40 of about 1,646 (102)

Living Donor Liver Transplantation in Pediatric Situs Inversus: A Case Series and Systematic Review

Pediatric Transplantation, Volume 30, Issue 8, August 2026.
ABSTRACT Liver transplantation (LT) in patients with situs inversus (S‐I) is rare and technically challenging. The literature on such cases, particularly in pediatric populations, remains limited. Here, we report the surgical considerations and outcomes of two pediatric recipients with situs inversus abdominalis who underwent liver transplantation for ...
Maria F. Fernandez, Nadia Ali, Carolina Rumbo, Piyush Gupta, Kathryn LaRusso, Nada Yazigi, Christof Kaltenmeier, Juan F. Guerra, Leonardo A. Montes, Udeme Ekong, Alexander Kroemer, Dolores Garcia‐Hervas, Khalid Khan, Yuri Genyk, Cal Matsumoto, Julio Trentadue, Diego Ramisch, Pablo Barros‐Schelotto, Thomas Fishbein, Gabriel E. Gondolesi   +19 more
wiley   +1 more source

Risk of SARS‐CoV‐2 Infection and Hospitalisation in Immunocompromised Children: A Population‐Based Cohort Study in Italy and Norway

Acta Paediatrica, Volume 115, Issue 7, Page 1451-1460, July 2026.
ABSTRACT Aim Immunocompromised children (IC) were presumed to be at higher risk of SARS‐COV‐2 infection and severe COVID‐19, but population‐based evidence is limited. We assessed infection risk, COVID‐19 hospitalisation, and severe outcomes in IC compared with children with and without other high‐risk conditions.
Costanza Di Chiara, Riccardo Boracchini, Nhung T. H. Trinh, Arianna Giugni, Giulia Sturniolo, Elisa Visonà, Ali Judd, Marthe Le Prevost, Claire Thorne, Pia Hardelid, Carlo Giaquinto, Angela Lupattelli, Daniele Donà, Anna Cantarutti   +13 more
wiley   +1 more source

Yield of Whole Genome Sequencing for Pathogenic Single Nucleotide Variants in Congenital Heart Disease: A Systematic Review and Meta‐Analysis

Prenatal Diagnosis, Volume 46, Issue 5-6, Page 780-818, May 2026.
ABSTRACT Objective This systematic review and meta‐analysis aimed to assess the diagnostic yield of pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) using whole genome sequencing (WGS) in congenital heart disease (CHD). Methods A systematic search of three databases (2000–2024) was conducted, and two reviewers independently ...
Hiba J. Mustafa, Parisa Najjariasl, Faezeh Aghajani, Enaja V. Sambatur, Andrew Rodenbarger, Stephanie Guseh, Amy E. Roberts, Alireza A. Shamshirsaz   +7 more
wiley   +1 more source

Early Life Disease Burden and Outcomes in Children Diagnosed With Primary Ciliary Dyskinesia in Infancy

Pediatric Pulmonology, Volume 61, Issue 5, May 2026.
ABSTRACT Background Primary ciliary dyskinesia (PCD) is a genetically heterogeneous disorder causing chronic oto‐sino‐pulmonary disease from birth. Since diagnosis is often delayed into childhood or adulthood, early‐life disease burdens remain poorly described.
Madhan Kumar, Dvir Gatt, Zofia Zysman‐Colman, José Fontoura‐Matias, Deborah Fertuck, Sharon D. Dell, Fiona E. Kritzinger, Adam J. Shapiro   +7 more
wiley   +1 more source

Isolated spleen agenesis: a rare cause of thrombocytosis mimicking essential thrombocythemia

Haematologica, 2000
Thrombocytosis is a common feature of myeloproliferative disorders but may also result from various conditions including chronic iron deficiency, hemorrhage, chronic inflammation and splenectomy.
V Chanet, O Tournilhac, V Dieu-Bellamy, N Boiret, P Spitz, O Baud, C Darcha, P Travade, H Laurichesse   +8 more
doaj  

Integrating Chain‐of‐Thought and Retrieval Augmented Generation Enhances Rare Disease Diagnosis From Clinical Notes

Medicine Bulletin, Volume 2, Issue 2, Page 167-183, March 2026.
ABSTRACT Background Several studies show that large language models (LLMs) struggle with phenotype‐driven gene prioritization for rare diseases. These studies typically use Human Phenotype Ontology (HPO) terms to prompt foundation models such as GPT and LLaMA to predict candidate genes.
Zhanliang Wang, Da Wu, Quan Nguyen, Kai Wang   +3 more
wiley   +1 more source

Save or Remove the Accessory Spleen in Patient Candidates to Splenectomy for Lymphoproliferative Disorders: Rational and Literature Review

Clinical Case Reports, Volume 13, Issue 9, September 2025.
ABSTRACT Sparing or removing the accessory spleen (AS) in patients undergoing diagnostic splenectomy for lymphoproliferative disorders (LPD) is an unsolved issue rarely considered. Usually, a healthy AS can be preserved. Reporting a case of our own, this paper aims to review existing literature and propose a tailored approach.
Valerio Rinaldi, Michela Ribersani, Carla Giordano, Francesca Maccioni, Iulia Catalina Ferent, Priscilla Nardi, Roberto Caronna, Paolina Saullo   +7 more
wiley   +1 more source

Isolated Congenital Asplenia Presenting in an Adult with Bacterial Meningitis [PDF]

D46. CRITICAL CARE CASE REPORTS: INFECTION AND SEPSIS I, 2020
M. Yeung, S.G. Chulani, S. Desai
openaire   +1 more source

The Genetic Dissection of Isolated Congenital Asplenia in Humans

La découverte de l’origine génétique de l’asplénie congénitale isolée chez l’homme L’asplénie ou l’absence de la rate peut être congénitale, c’est- à -dire absente dès la naissance, ou bien acquise, par exemple lors d’une opération après un accident.
openaire   +1 more source

Familial isolated congenital asplenia [PDF]

, 2020
openaire   +1 more source