Whole-Exome Sequencing Identified Two Novel Pathogenic Mutations in the PTCH1 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 (PTCH1) gene and the suppressor of the fused homolog (SUFU) gene. In a few cases, variants of patched 2 (PTCH2) have been found in patients who met the criteria for BCNS. In an investigation of 11 Hungarian families who fulfilled the diagnostic criteria for BCNS, whole-exome sequencing (WES) and multiplex ligation-dependent probe amplification (MLPA) identified two novel pathogenic variants (c.2994C>A; p.Cys998Ter and c.814_818del; p.Asn272SerfsTer11), one recently identified variant (c.1737_1745del p.Val580_Val582del), and three recurrent disease-causing variants of the PTCH1 gene with a diagnosis rate of 63.6%. Disease-causing variants were not found for the SUFU and PTCH2 genes. These applied methods could not fully elucidate the genetic background of all the BCNS cases that we investigated. To uncover the missing heritability of BCNS, whole-genome sequencing or an epigenetic approach might be considered in the future.

Current approaches to the diagnosis and management of odontogenic abscesses / Odontogén tályogok diagnosztikája és kezelése a nemzetközi ajánlások tükrében

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. Our aim was to review the current literature regarding the development, diagnostics and treatment of odontogenic infections. A review of the English and Hungarian literature was performed. Considerations regarding the surgical management of dental abscesses have well-tried, traditional routes. Prompt intervention is considered mandatory with surgical decompression of the swelling by performing incision and drainage. A rapid improvement of radiology has provided the possibility to realize and avoid fatal consequences of this disorder. The administration route, necessity and duration of empiric antibiotic therapy are still debated, protocols vary across studies. Based on inconsistency in findings among the studies and lack of high-quality prospective studies, future research should evaluate evidence-based and effective management of dental abscesses.

Genetic aspects of Gorlin‒Goltz syndrome / A Gorlin-Goltz-szindróma genetikai aspektusai.

Összefoglaló. A Gorlin-Goltz-szindróma - más néven naevoid basalsejtes carcinoma szindróma - egy ritka, viszont számos orvosi társszakmát érinto, rendkívül változatos megjelenésu 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 kórképrol meglévo ismereteink még nem teljesek. A témában megjelent nemzetközi és magyar nyelvu publikációk jelentos része esetközlésekre és a szindróma általános ismertetésére szorítkozik. A közlemény célja, hogy áttekintést adjon a szindróma genetikai vonatkozásairól. A nemzetközi és a magyar nyelvu szakirodalom áttanulmányozását végeztük. A naevoid basalsejtes carcinoma szindróma genetikai hátterének, az egyelore azonosítatlan örökletes tényezoknek pontos megismerése még várat magára. A genetikai vizsgálatok a szindróma pontosabb megértéséhez, könnyebb diagnosztizálásához, a pozitív családtervezéshez és a személyre szabott terápiákhoz is hozzájárulhatnak. Orv Hetil. 2020; 161(49): 2072-2077. Summary. Gorlin-Goltz syndrome, or nevoid basal cell carcinoma syndrome, is a rare disease that requires multidisciplinary approach in patient management. The disease is genetically heterogenous and has an extremely variable expressivity. Although the syndrome is in the focus of scientific research, our knowledge of it is still limited due to the relatively low number of recognised patients and the complexity of genotype-phenotype correlation. Several papers in this field have been published in the international and also in the Hungarian literature but most of these reports are single cases or small case series of families and outline general information about the disease. Authors aimed to review the literature of the syndrome and to report the genetic background and its role in the diagnosis and treatment. A review of the English and Hungarian literature was performed. The full genetic background of the syndrome is not yet discovered. Increasing the awareness of the syndrome, collecting and thoroughly analysing the medical records and performing genetic tests on the patients may lead to the better understanding of the disease; they may also help early diagnosis and treatment, positive family planning and may establish personalized medicine. Orv Hetil. 2020; 161(49): 2072-2077.

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. Impressions of the upper central incisors were clearly visible on the instrument. Although it is well known that excessive occlusal forces can result in root resorption, to the authors' knowledge, this case involves one of the first reported occurrences of extensive root resorption that was most likely caused by playing a wind instrument during childhood.

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). Patients with SIM were subdivided into a dysplasia-positive (n = 34) and a dysplasia-negative (n = 75) group. All patients underwent reflux symptom analysis, oesophageal manometry, and simultaneous 24-hour pH and biliary reflux monitoring. RESULTS: Patients with SIM were significantly older and had a significantly higher body mass index than patients without SIM. A significant male predominance was observed in patients with SIM and dysplasia compared to the dysplasia-negative group. The clinical symptom spectrum and the prevalence of erosive oesophageal lesions were similar in all groups. Patients with SIM had longer metaplastic segments, which was further increased in the dysplasia-positive group. During oesophageal manometry, pH and biliary reflux monitoring, patients with SIM had more severe alterations than patients without SIM, and these were further increased in patients with SIM and dysplasia. CONCLUSIONS: Patients with SIM had more severe oesophageal function abnormalities than those with other types of oesophageal metaplasia (e.g. gastric). The oesophageal function was further impaired if dysplasia was present in the metaplastic mucosa.