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).

Asymptomatic bacteriuria in pregnancy: maternal and fetal complications.

From an analysis of the data reported in the literature it is clear that pregnancy is a predisposing factor for urinary tract infection and that pregnant women with this pathology are exposed to dangerous risks which may influence maternal wellbeing and fetal prognosis. Authors do not concur on the specific risks to the mother and fetus, one reason being that the statistics reported to date reveal discrepancies relating to the presence of disorders prior to pregnancy and the environmental, working and socio-hygienic conditions of the populations studied. The apparently paradoxical finding of a higher incidence of perinatal problems in pregnant women with asymptomatic bacteriuria compared to manifest forms can be attributed to the fact that the latter are treated with adequate therapies whereas asymptomatic bacteriuria, which is difficult to diagnose, may persist throughout pregnancy.

Asymptomatic bacteriuria in pregnancy: a diagnostic and therapeutic approach.

Pregnancy is a predisposing factor for urinary tract infection and pregnant women suffering from this pathology are exposed to dangerous risks which may condition maternal wellbeing and fetal prognosis. The apparently paradoxal finding of a higher incidence of perinatal problems in pregnant women with asymptomatic bacteriuria compared to those with manifest infections may be explained by the fact that the latter are adequately treated, whereas asymptomatic bacteriuria, which is difficult to diagnose, may continue in a subtle form for the entire duration of pregnancy. This emphasises the importance of the early diagnosis of infection using a protocol based on urine tests and urine culture and the adequate treatment of all cases of asymptomatic bacteriuria in order to reduce the incidence of maternal and fetal complications (acute pyelonephritis, increased fetal morbidity and mortality).