نتایج جستجو برای: lefèvre disease

تعداد نتایج: 1490300  

2015
Somia Iqtadar Sami Ullah Mumtaz Sajid Abaidullah

INTRODUCTION Papillon-Lefèvre Syndrome is a rare autosomal recessive disorder characterized by diffuse, transgradient palmoplantar keratoderma, destructive periodontitis beginning in childhood, premature loss of primary teeth, and frequent cutaneous and systemic pyogenic infections. Pyogenic liver abscess is an uncommon presentation of the disease present in this case. CASE PRESENTATION A 16-...

2014
Nikoletta Nagy Péter Vályi Zsanett Csoma Adrienn Sulák Kornélia Tripolszki Katalin Farkas Ekaterine Paschali Ferenc Papp Lola Tóth Beáta Fábos Lajos Kemény Katalin Nagy Márta Széll

Papillon-Lefèvre syndrome (PLS; OMIM 245000) is an autosomal recessive condition characterized by palmoplantar hyperkeratosis and periodontitis. In 1997, the gene locus for PLS was mapped to 11q14-21, and in 1999, variants in the cathepsin C gene (CTSC) were identified as causing PLS. To date, a total of 75 different disease-causing mutations have been published for the CTSC gene. A summary of ...

Journal: :Dermatology 2009
Mazen Kurban Muhammad Wajid Yutaka Shimomura Ruba Bahhady Abdul-Ghani Kibbi Angela M Christiano

BACKGROUND Papillon-Lefèvre syndrome (PLS; OMIM 245000) is a rare autosomal recessive disorder. Clinically, PLS is characterized by hyperkeratosis involving the palms, soles, elbows and knees which is followed later on by periodontitis, destruction of alveolar bone and loss of primary and permanent teeth. The condition is caused by mutations in the cathepsin C (CTSC) gene. METHODS We analyzed...

2017
Rémi Revellin Romuald Rullière Frédéric Lefèvre Jocelyn Bonjour

An analytical model by Lefèvre and Lallemand (1) that couples a 2D hydrodynamic model for both the liquid and the vapor phases inside a flat micro heat pipe (FMHP) and a 3D thermal model of heat conduction inside the FMHP wall has been modified. It consists of superposing two independent solutions in order to take into account the impact of evaporation or condensation on the equivalent thermal ...

2015
Maha A. AlSarheed Fares S. Al-Sehaibany

A 9-year-old girl with Papillon-Lefèvre syndrome (PLS) was treated orthodontically 24 months after the start of mechanical and antibiotic therapy in adjunct with periodontal treatment every 6 weeks. After achieving stable periodontal conditions, orthodontic treatment was commenced to correct the teeth position, facial profile, and maxillary protraction. Following the combination therapy and a f...

2006
R. H. D. Townsend J. MacDonald

We examine the stability of = 1 and = 2 g modes in a pair of nitrogen-rich Wolf–Rayet stellar models characterized by differing hydrogen abundances. We find that modes with intermediate radial orders are destabilized by a κ mechanism operating on an opacity bump at an envelope temperature of log T ≈ 6.25. This ‘deep opacity bump’ is due primarily to L-shell bound–free transitions of iron. Perio...

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