Whole-Exome Sequencing Identified Two Novel Pathogenic Mutations in the Gene in BCNS.

Basal cell nevus syndrome (BCNS, OMIM 109400) is a familial cancer syndrome characterized by the development of numerous basal cell cancers and various other developmental abnormalities, including epidermal cysts of the skin, calcified dural folds, keratocysts of the jaw, palmar and plantar pits, ovarian fibromas, medulloblastomas, lymphomesenteric cysts, and fetal rhabdomyomas. BCNS shows autosomal dominant inheritance and is caused by mutations in the patched 1 () gene and the suppressor of the fused homolog () gene. In a few cases, variants of patched 2 () have been found in patients who met the criteria for BCNS.

[Current approaches to the diagnosis and management of odontogenic abscesses].

A wide scale of medical professionals including general practitioners, dentists, maxillofacial surgeons, otolaryngologists or even emergency physicians frequently encounter patients suffering from abscesses of odontogenic origin. These dental infections spreading along the fascial planes into the adjacent anatomical spaces or by the lymphatic vessels and veins may result in life-threatening situations. It is essential to prevent and - in the case of an evolved disease pattern - to treat them properly, since improper or delayed treatment may entail avoidable burdens on the healthcare system.

[Genetic aspects of Gorlin‒Goltz syndrome].

Összefoglaló. A Gorlin-Goltz-szindróma - más néven naevoid basalsejtes carcinoma szindróma - egy ritka, viszont számos orvosi társszakmát érintő, rendkívül változatos megjelenésű és genetikailag is heterogén betegség. Bár a tudományos kutatások egyik kedvenc területe, az aránylag alacsony betegszám, valamint a genotípus és a fenotípus közötti, igen komplex összefüggések miatt a kórképről meglévő ismereteink még nem teljesek.

Severe root resorption of the upper central incisors as a consequence of playing the flute.

This study presents a case of severe root resorption of the maxillary central incisors in an 18-year-old woman who was referred for orthodontic treatment of irregular dental arches. A detailed history revealed that she used to play the block flute on an everyday basis during childhood. Against all warnings, she continued to firmly press her teeth into the mouthpiece of the instrument.

The evaluation of oesophageal function in patients with different types of oesophageal metaplasia.

Aim: To evaluate the oesophageal function in patients with different types of oesophageal metaplasia and in cases with dysplasia on the basis of the Montreal definition of gastro-oesophageal reflux disease.

Patients And Methods: 270 consecutive patients [M/F 151/119, mean age 54.2 years (19-84)] with endoscopic and histological evidence of oesophageal metaplasia were prospectively studied: patients with specialized intestinal metaplasia (SIM, n = 109) and patients without SIM (n = 161).