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RASGRP1 Deficiency Associated with Diffuse Mesangial Sclerosis Infantile Nephrotic Syndrome and Epstein-Barr Virus-Induced Hodgkin's Lymphoma.
Pediatr Allergy Immunol Pulmonol
January 2025
Clinical Immunology Unit, Faculty of Medicine and Health Sciences, Department of Paediatrics, Universiti Putra Malaysia, Selangor, Malaysia.
: RAS guanyl-releasing protein 1 (RASGRP1) deficiency is characterized by immune dysregulation and Epstein-Barr virus (EBV)-related lymphoproliferation. Diffuse mesangial sclerosis is one of the infrequent causes of infantile nephrotic syndrome. : Here, we described a 7-year-old girl who was diagnosed with diffuse mesangial sclerosis at 5 months old and subsequently developed chronic bilateral neck swelling at the age of 3 years.
View Article and Find Full Text PDFVisual deprivation and axial myopia: Considerations on long-term ocular development.
Eur J Ophthalmol
January 2025
Department of Neurosciences, Reproductive Sciences and Dentistry, University of Naples "Federico II", Naples, Italy.
Introduction: Severe visual deprivation during infancy can lead to long-term changes in ocular development, including significant differences in axial length (AL) between eyes. This case report presents three adult patients with monocular infantile visual deprivation who developed substantial AL interocular differences. The aim is to explore the impact of early visual deprivation on AL and its potential implications for myopia progression.
View Article and Find Full Text PDFInfantile Dilated Cardiomyopathy in Alström Syndrome.
Cureus
December 2024
Congenital and Pediatric Cardiology, Department of Pediatrics, University Hospital Saint-Luc, Brussels, BEL.
We report two cases of end-stage dilated cardiomyopathy as the initial manifestation of Alström syndrome (ALMS), in infants aged two and five months. This rare monogenic, autosomal, and recessive genetic condition is a multisystem disorder characterized by visual and hearing impairment, cardiomyopathy childhood obesity, and other anomalies. These cases highlight the importance of genetic testing targeting the ALMS1 gene in the assessment of apparently isolated dilated cardiomyopathy.
View Article and Find Full Text PDFCervical spinal decompression and fusion in the setting of Wolcott-Rallison Syndrome: a rare pediatric indication and its surgical considerations.
Childs Nerv Syst
December 2024
Department of Neurological Surgery, University of Miami Miller School of Medicine, 1095 NW 14 Terrace, Miami, FL, 33136, USA.
Wolcott-Rallison Syndrome is an extremely rare syndrome characterized by infantile non-autoimmune diabetes, extensive skeletal dysplasia, and multi-organ failure requiring transplant. Prognosis is very poor, and as such, surgical intervention for symptomatic cervical spine compromise in pediatric patients has not been widely reported in part due to their high fragility. We report a complex case of Wolcott-Rallison Syndrome that presented with cervical myelopathy due to cervicomedullary compression and the exceptional surgical considerations required for successful intervention.
View Article and Find Full Text PDFOn TRacK With Larotrectinib in a Neonate With a Giant Congenital ETV6::NTRK3 Fusion-Positive Infantile Fibrosarcoma of the Head and Neck.
Head Neck
December 2024
Department of Pediatric Hematology & Oncology, Klinik für Kinder- Und Jugendmedizin, Universitätsmedizin Rostock, Rostock, Germany.
Background: Infantile fibrosarcoma (IFS) is a rare pediatric tumor of intermediate malignancy with high local aggressiveness that typically presents in young infants. Its occurrence in the head and neck region is rare. Complete non-mutilating surgical resection is often not possible, requiring multimodal treatment.
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