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Cytological Features of Sialoblastoma: A Case Report With Summary of Prior Published Cases.
Cytopathology
December 2024
Department of Pathology, IPGME&R, Kolkata, India.
Background: Sialoblastoma is an uncommon salivary gland neoplasm seen predominantly in the paediatric age group. It poses diagnostic challenges to the pathologists because of its rarity.
Case Report: Here, we present the cytological features of a case of sialoblastoma in 5-month-old baby boy on imprint cytology.
Bilateral Wilms Tumor - Case Report of a Patient with Family History.
Appl Clin Genet
December 2024
Department of Pediatric Hematology, Oncology and Transplantology, Medical University of Lublin, Lublin, Poland.
Wilms' tumor (WT) is the most common renal neoplasm in children. Despite its rapid growth, it is often asymptomatic. It most commonly occurs between the ages of 3 and 5, more frequently in girls.
View Article and Find Full Text PDF46,XY disorders of sex development and muscular dystrophy caused by Xp21 duplication: a case report and literature review.
Transl Pediatr
November 2024
Department of Endocrinology, Children's Hospital of Nanjing Medical University, Nanjing, China.
Background: The development of the testes is a tightly regulated process, requiring the coordination of multiple genes. Mutations in these genes can result in 46,XY gonadal dysgenesis. , located at Xp21, is a gene expressed in the developing adrenals, gonads, hypothalamus, and pituitary gland.
View Article and Find Full Text PDFShwachman-Diamond Syndrome Presenting as Neonatal Ichthyosis.
Pediatr Dermatol
November 2024
Department of Dermatology, Kandang Kerbau Women's and Children's Hospital, Singapore, Singapore.
Shwachman-Diamond syndrome (SDS) is a rare inherited bone marrow failure syndrome characterized by the triad of exocrine pancreatic dysfunction, cytopenia, and skeletal abnormalities. We report a 5-month-old boy with SDS who presented with generalized ichthyosis in the neonatal period that evolved into more eczematous skin eruptions, accompanied by severe failure to thrive. This report highlights the importance of including SDS as a differential diagnosis in patients who present with early ichthyosis, failure-to-thrive, gastrointestinal symptoms and cytopenia.
View Article and Find Full Text PDFMelanotic neuroectodermal tumor of infancy (MNTI) is a rare distinctive neoplasm of infants with rapid expansile growth and a high rate of recurrence. Most commonly, the lesion affects the maxilla followed by the skull and orbit. One such case was diagnosed in a 5-month-old boy who presented with rapidly enlarged swelling over the back of the skull.
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