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| http://dx.doi.org/10.1136/bcr-2015-212300 | DOI Listing |
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[Clinical characteristics and genetic analysis of maturity-onset diabetes of the young type 2 diagnosed in childhood].
Zhongguo Dang Dai Er Ke Za Zhi
January 2025
Department of Pediatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology/Hubei Key Laboratory of Pediatric Genetic Metabolic and Endocrine Rare Diseases, Wuhan 430030, China.
Objectives: To study the clinical manifestations and genetic characteristics of children with maturity-onset diabetes of the young type 2 (MODY2), aiming to enhance the recognition of MODY2 in clinical practice.
Methods: A retrospective analysis was conducted on the clinical data of 13 children diagnosed with MODY2 at the Department of Pediatrics of Tongji Hospital of Tongji Medical College of Huazhong University of Science and Technology from August 2017 to July 2023.
Results: All 13 MODY2 children had a positive family history of diabetes and were found to have mild fasting hyperglycemia [(6.
Periorificial dermatitis in infants and preschoolers - a narrative review.
Eur J Pediatr
January 2025
Department of Dermatology & Allergology, Städtisches Klinikum Dresden, Academic Teaching Hospital, Dresden, Germany.
Periorifical dermatitis (POD) is a papular, chronic inflammatory skin disease commonly seen in women in their 2nd to 4th decade of life. The major differential diagnosis is persistent acne. In children, POD is less common than in adults.
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July 2024
Faculty of Medicine, Beirut Arab University, Beirut, Lebanon.
Mycoplasma pneumoniae is a leading cause of a community-acquired respiratory illness occurring in children with manifestations occurring throughout the year but peaking in summer and early fall. Predominantly affecting school-aged children, the infection presents as pneumonia, featuring fever, cough, dyspnea, and sore throat. Extrapulmonary manifestations such as Stevens-Johnson have been rarely associated with mycoplasma pneumoniae infection presenting with ocular, oral, and genital involvement.
View Article and Find Full Text PDFAtypical conjunctival sporotrichosis secondary to Mooren's ulcer: a case report.
BMC Infect Dis
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Liaoning Provincial Key Laboratory of Cornea and Ocular Surface Diseases, Liaoning Provincial Optometry Technology Engineering Research Center, The Third People's Hospital of Dalian, Dalian Municipal Eye Hospital, Dalian Municipal Cancer Hospital, No. 40, Qianshan Road, Ganjingzi District, Dalian, Liaoning, China.
Background: Conjunctival sporotrichosis is a rare fungal infection, typically presenting as granulomatous lesions. Its manifestations can be atypical, particularly in immunosuppressed patients. Here, we present a rare case of a Mooren's ulcer patient with bulbar conjunctival Sporotrichosis presenting as a salmon-pink tumor.
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Orphanet J Rare Dis
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Child Neuropsychiatry Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
Background: Sturge-Weber Syndrome (SWS) is a rare, sporadic neurocutaneous disorder affecting the skin, brain, and eyes, due to somatic activating mutations in GNAQ or, less commonly, GNA11 gene. It is characterized by at least two of the following features: a facial capillary malformation, leptomeningeal vascular malformation, and ocular involvement. The spectrum of clinical manifestations includes headache, seizures, stroke-like events, intellectual disability, glaucoma, facial asymmetry, gingival hyperplasia, etc.
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