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Speech and Language Development, Hearing, and Feeding in Patients With Genetically Confirmed Crouzon Syndrome With Acanthosis Nigricans: A 36-Year Longitudinal Retrospective Review of Patients at the Oxford Craniofacial Unit.
J Craniofac Surg
March 2024
Oxford Craniofacial Unit, Oxford University Hospitals NHS Foundation Trust, John Radcliffe Hospital.
Article Synopsis
- Crouzon syndrome with acanthosis nigricans (CAN) results from a specific genetic mutation and is characterized by craniosynostosis, midface hypoplasia, and hyperkeratotic skin disorders.
- A study reviewed six patients diagnosed with CAN over 36 years, examining their medical histories and challenges related to speech, language, hearing, and feeding.
- Findings indicated that all patients experienced significant complications such as airway management needs, feeding difficulties, and hearing loss, with common issues including low weight and communication disorders.
Dermatophytomas: Clinical Overview and Treatment.
J Fungi (Basel)
July 2022
Mediprobe Research Inc., 645 Windermere Road, London, ON N5X 2P1, Canada.
Dermatophytomas are characterized as a hyperkeratotic fungal mass in the subungual space, showing as dense white or yellow, typically in longitudinal streaks or patches. Masses can be visualized by traditional microscopy or histology. Newer technologies such as dermoscopy and optical coherence tomography also provide visual features for dermatophytoma diagnosis.
View Article and Find Full Text PDFCardio-facio-cutaneous syndrome and gastrointestinal defects: report on a newborn with 19p13.3 deletion including the MAP 2 K2 gene.
Ital J Pediatr
May 2022
Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties "G. D'Alessandro", University of Palermo, Palermo, Italy.
Background: Cardio-facio-cutaneous syndrome (CFCS) belongs to RASopathies, a group of conditions caused by mutations in genes encoding proteins of the rat sarcoma/mitogen-activated protein kinase (RAS/MAPK) pathway. It is a rare syndrome, with about 300 patients reported. Main clinical manifestations include facial dysmorphisms, growth failure, heart defects, developmental delay, and ectodermal abnormalities.
View Article and Find Full Text PDFDynamics in Morbidity Markers and Cytological Observations Made in Urine of -Infected Children: Pre- and Post-Praziquantel Treatment in an Endemic Setting.
Med Sci (Basel)
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Department of Medical Microbiology, University of Ghana Medical School, Accra P.O. Box KB 4236, Ghana.
Background: Schistosomiasis is a neglected tropical disease caused by helminths of the genus . Morbidity markers and cytological observations such as squamous metaplastic cells, inflammatory cells, and hyperkeratotic cells in the urine of -infected children may suggest disease severity. They may also help predict severe forms of clinical presentation, such as bladder cancer in later years, among infected ones who miss out on early detection and treatment.
View Article and Find Full Text PDFObjective: To develop an effective system of an interactive dynamic telemonitoring of oral health in patients with oral lichen planus (LP) during the COVID-19 pandemic.
Material And Methods: The observational longitudinal prospective cohort study (follow-up for 12 months) involved 53 patients (19 men and 34 women aged 49-65 years) with various forms of LP in persistent remission. During the entire observation period dentists carried out telemonitoring (through a Telegram group) of oral health of patients with LP registering the preservation/coming out from remission, as well as the causes of exacerbation of LP.
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