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Yellow nail syndrome linked to a mediastinal lipoma: a case report.
J Med Case Rep
December 2024
Department of Pulmonology, Pius-Hospital Carl Von Ossietzky University, Oldenburg, Germany.
Background: Yellow nail syndrome is characterized by a yellow discoloration of the nails, respiratory symptoms, and lymphedema. It was first described in 1964 and has an estimated prevalence of less than 1:1.000.
View Article and Find Full Text PDFFormulation and evaluation of herbal essential oil based nail lacquer for management of onychomycosis.
J Mycol Med
December 2024
Chitkara College of Pharmacy, Chitkara University, Punjab, 140401, India. Electronic address:
Introduction: Onychomycosis (Paronychia) is a common fungal nail infection, characterised by thickened, discoloured and brittle nails often accompanied by pain and discomfort. It is one of the most prevalent fungal nail infections with the global incidence of >20 % affected commonly by Candida albicans and Candida parapsilosis. The market today is flooded with various antifungal therapies (Azoles, Imidazoles, Allylamines, etc.
View Article and Find Full Text PDFConcurrent Eosinophilia Increases the Prevalence of Nail Abnormalities and Severity of Hair Loss in Patients With Alopecia Areata.
Biomed Res Int
September 2024
Department of Dermatology Cleveland Clinic, Cleveland, Ohio, USA.
The potential link between alopecia areata (AA) and eosinophilia is unclear, as well as its clinical manifestations in these patients' subsets. This is a monocentric retrospective observational study in which clinical and laboratory data were summarized and evaluated the AA subset with concurrent eosinophilia. In a sample of 205 AA patients, 38 (18.
View Article and Find Full Text PDFInteraction between the TBC1D24 TLDc domain and the KIBRA C2 domain is disrupted by two epilepsy-associated TBC1D24 missense variants.
J Biol Chem
September 2024
Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Maryland, USA. Electronic address:
Article Synopsis
- Mutations in the TBC1D24 gene are linked to various conditions like deafness, epilepsy, and DOORS syndrome, but how these mutations lead to different health issues is still unclear.
- Researchers conducted a study to identify new protein partners of TBC1D24 and discovered that it interacts with KIBRA, a scaffold protein involved in cognitive functions and the Hippo signaling pathway.
- Specific mutations in the TLDc domain of TBC1D24 can disrupt its interaction with KIBRA, revealing a potential link between TBC1D24 and epilepsy, suggesting that this interaction is crucial for reducing epilepsy risk.
Prenatal diagnosis of recurrent Kagami-Ogata syndrome inherited from a mother affected by Temple syndrome: a case report and literature review.
BMC Med Genomics
August 2024
Department of Obstetrics and Gynecology, National Clinical Research Center for Obstetric & Gynecologic Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Science & Peking Union Medical College, Beijing, China.
Article Synopsis
- Kagami-Ogata syndrome (KOS) and Temple syndrome (TS) are rare genetic disorders linked to imprinted genes on chromosome 14q32, affecting maternal and paternal gene expression, respectively.
- A unique case involved a mother with TS who had two pregnancies with KOS, showing symptoms like prenatal overgrowth and omphalocele, confirmed by genetic testing revealing a deletion in the imprinted region.
- Proper prenatal diagnosis of KOS relies on better recognition of its symptoms by healthcare providers and the significance of studying imprinted gene regions in genetic lab tests.
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