PRIMARY OPEN-ANGLE GLAUCOMA DUE TO MUTATIONS IN THE MYOC GENE.

AIM: Mutations in the myocilin gene (MYOC) cause trabecular dysfunction and thus are involved in the pathogenesis of primary open-angle glaucoma (POAG). The aim of this study was to characterize and describe the clinical findings in two Czech families with POAG due to pathogenic variants in the MYOC gene. MATERIAL AND METHODS: Members of the two families affected by POAG underwent complete ophthalmological examination. In the proband from the first family, a direct sequencing of the three most frequent mutations in the MYOC gene was performed, and in the proband from the second family, an exome sequencing was performed. Other family members underwent targeted tests using direct sequencing. RESULTS: In total, 10 individuals diagnosed with POAG aged 20-70 years (mean 32.2 years, SD ±10,9 years) were examined. Eight of them showed advanced glaucomatous neuropathy with severe changes in the retinal nerve fiber layer. Clinical signs of POAG were present in six individuals in the third decade of life already; another four developed POAG during the fourth decade of life. Eight out of 10 patients had to undergo filtration surgery. Surgery was performed within 1 to 7 years of diagnosis, but mostly was performed within 2 years of glaucoma diagnosis. In the first family, MYOC variant c.1099G>A p.(Gly367Arg) was shown in the affected family members; in the second family MYOC variant c.1440C>A p.(Asn480Lys), both in heterozygous state. The changes were assessed as pathogenic. CONCLUSION: Our study is the first to describe mutations in the MYOC gene causing POAG in Czech patients. Genetic testing may be recommended for this diagnosis, especially in individuals with early presentation and a positive family history. Carriers of pathogenic variants of the MYOC gene have a lifetime risk of developing POAG of more than 50% and the course of their disease is often more aggressive, requiring surgical intervention to permanently control the intraocular pressure.

Updated S2 K guidelines for the management of bullous pemphigoid initiated by the European Academy of Dermatology and Venereology (EADV).

BACKGROUND: Bullous pemphigoid (BP) is the most common autoimmune subepidermal blistering disease of the skin and mucous membranes. This disease typically affects the elderly and presents with itch and localized or, most frequently, generalized bullous lesions. A subset of patients only develops excoriations, prurigo-like lesions, and eczematous and/or urticarial erythematous lesions. The disease, which is significantly associated with neurological disorders, has high morbidity and severely impacts the quality of life. OBJECTIVES AND METHODOLOGY: The Autoimmune blistering diseases Task Force of the European Academy of Dermatology and Venereology sought to update the guidelines for the management of BP based on new clinical information, and new evidence on diagnostic tools and interventions. The recommendations are either evidence-based or rely on expert opinion. The degree of consent among all task force members was included. RESULTS: Treatment depends on the severity of BP and patients' comorbidities. High-potency topical corticosteroids are recommended as the mainstay of treatment whenever possible. Oral prednisone at a dose of 0.5 mg/kg/day is a recommended alternative. In case of contraindications or resistance to corticosteroids, immunosuppressive therapies, such as methotrexate, azathioprine, mycophenolate mofetil or mycophenolate acid, may be recommended. The use of doxycycline and dapsone is controversial. They may be recommended, in particular, in patients with contraindications to oral corticosteroids. B-cell-depleting therapy and intravenous immunoglobulins may be considered in treatment-resistant cases. Omalizumab and dupilumab have recently shown promising results. The final version of the guideline was consented to by several patient organizations. CONCLUSIONS: The guidelines for the management of BP were updated. They summarize evidence- and expert-based recommendations useful in clinical practice.

[Prevention of the invasion of malignant cells of gynecologic tumors during surgery]. / Prevence invaze maligních bunek pri gynekologických operacích nádoru.

OBJECTIVE: In experiments performed on Vistar rats with Walker tumors, F. Luksch observed transfer of malignant cells during different manipulations into the blood circulation of the animals. During gynecologic surgery of a choriocarcinoma and of an ovarian carcinoma Luksch and Cernoch prooved trace of malignant cells within the blood circulation related to the manipulation of tumors during surgery. Therefore, as prevention of the metastazing of tumor cells, they proposed to ligate ampular portions of oviducts and hypogastric vessels as the first step of the radical surgeries. METHODS: Our observation is based on radical surgeries of 42 patients with cervical uterine carcinomas at the stage II.a (T2, N0, M0). In the first group 13 cases the ligature of oviducts and hypogastric vessels was performed at the start of the surgery. In the second group of 29 patients were operated without ligatures. RESULTS: After five years in the group of 13 ligated patients 10 patients (77%) survived. In the group of 29 unligated patients only 7 (24%) were alive. The results proove substantial differences. CONCLUSION: Although the members are small, there is doubt, that the ligation of oviducts and hypogastric vessels prior radical surgeries in patients affected by malignant gynecologic tumors substantially reduces metastazing of malignant cells nad improve the five years survival of surgically treated patients with gynecologic malignant tumors.

[Squamous intraepithelial lesions in young female university students]. / Skvamózní intraepitelová léze u mladých zen, studujících vysokých skol.

The authors investigated the frequency of squamous intraepithelial lesions (SIL) in young women, in particular university students with special attention to morphological signs of the presence of human papilloma virus (HPV) in SIL low grade-SIL, LG-HPV. As compared with data in the world literature, they revealed a significantly lower rate of SIL LG, HPV-2.81% as compared with 5.5% reported in WHO studies of young women. The authors analyzed the biological behaviour of SIL, LG-HPV. As compared with data in the literature on known values of spontaneous regression which are 50-62% in the course of three years, they demonstrated during a time interval from 3 months to 2 years spontaneous regression in 39.1%. Further possibilities of regression in a longer time interval are expected in the group of clinically latent cytologically persistent LG lesions (18.1%) and in the group of patients which after termination of their studies were lost from the records (24.3%). During the investigated time interval no case of progression to a higher grade lesion was recorded. The authors reflect on diagnostic and therapeutic procedures with regard to the application of results of HPV typing.