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[Infantile rhabdomyofibrosarcoma with EGFR kinase domain duplication: a clinicopathological analysis of three cases].
Zhonghua Bing Li Xue Za Zhi
February 2025
Department of Pathology, Foshan Traditional Chinese Medicine Hospital, Foshan 528000, China.
To investigate the clinicopathological and genetic features of infantile rhabdomyofibrosarcoma (IRFS) with EGFR kinase domain duplication (EGFR-KDD). The clinical, morphological and immunohistochemical features of three IRFS with EGFR-KDD diagnosed from January 2022 to January 2024 at Department of Pathology, Foshan Traditional Chinese Medicine Hospital, Foshan, China were retrospectively analyzed using PCR or next generation sequencing technique; and related literature was reviewed. There were 1 male and 2 females, aged at presentation ranging from 1 to 4 years.
View Article and Find Full Text PDFSpectrum of Manifest Strabismus in A Tertiary Eye Care Hospital in Calabar, Nigeria: Demographics, Types and Co-morbidities.
West Afr J Med
September 2024
Department of Ophthalmology, University of Calabar, Calabar, Cross River State, Nigeria.
Background: Strabismus is a potential cause of ocular morbidity.
Objective: The aim of this study was to determine the frequency, types of manifest strabismus and co-morbidities among patients attending a referral paediatric ophthalmology and strabismus clinic in Calabar, Nigeria.
Methods: A retrospective review of case-notes of patients attending the paediatric ophthalmology and strabismus clinic from January 1, 2017 to December 31, 2019 was done.
Efficacy and safety of avalglucosidase alfa in Japanese patients with late-onset and infantile-onset Pompe diseases: A case series from clinical trials.
Mol Genet Metab Rep
March 2025
Translational Medical Center, National Center of Neurology and Psychiatry, Tokyo, Japan.
Background: The efficacy and safety of avalglucosidase alfa for Pompe disease (PD) have been demonstrated in a global Phase 3 trial (COMET) in patients with late-onset PD (LOPD) and a global Phase 2 trial (Mini-COMET) in patients with infantile-onset PD (IOPD). This case series examines the individual results of three Japanese patients enrolled in these trials.
Methods: Case reports were assembled from data collected in the COMET and Mini-COMET trials.
Experiences of Patients and Families Living with Krabbe Disease.
J Patient Exp
January 2025
Division of Health Science, Child Healthcare and Genetic Science Laboratory, Osaka University Graduate School of Medicine, Suita, Japan.
The challenges faced by patients with Krabbe disease remain unelucidated. This study aimed to identify these challenges and facilitate the development of methods for assessing the quality of life. This qualitative descriptive study used in-person or online semistructured interviews from March to December 2022 using a qualitative content analysis approach.
View Article and Find Full Text PDFInfantile Aggressive Aneurysmal Bone Cyst of the Proximal Femur: A Rare Clinical Presentation.
Cureus
December 2024
Orthopaedics and Traumatology, Faculty of Medicine, Ondokuz Mayıs University, Samsun, TUR.
Aneurysmal bone cysts (ABCs) are aggressive, osteolytic lesions usually seen in childhood and young adulthood. The patient's age, location, and behavior of the lesion in the bone may cause patients to present with different clinical findings. Appropriate treatment of these rare, aggressive bone lesions is essential for recurrence.
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