Autosomal dominant neovascular inflammatory vitreoretinopathy — a case series

The objective of our study was to report the course of the disease in a family affected with autosomal dominant neovascular inflammatory vitreoretinopathy (ADNIV, OMIM#193235). ADNIV is a very rare inherited blinding disease due to mutations in CAPN5 gene. We assembled a retrospective observational case series of ADNIV patients. We noticed first symptoms in different ages, similar course of the disease and its progression leading in most cases to complete blindness despite treatment

Autosomal dominant neovascular inflammatory vitreoretinopathy — a review

Autosomal dominant neovascular inflammatory vitreoretinopathy (ADNIV) is a hereditary autoimmune disorder of the eye caused by mutations in the CAPN5 gene. It is characterized by non-specific uveitis in the anterior chamber and vitreous leading to panuveitis, iris and retinal neovascularization, cystoid macular edema, abnormal retinal pigmentation, vitreous hemorrhage, intraocular fibrosis, membrane formation and tractional retinal detachment. ADNIV is a progressive disease leading to complete blindness despite of treatment. Confirmation is made by genetic analysis demonstrating mutations of the CAPN5 gene

The quality of sexual life and personality of men addicted to gambling

INTRODUCTION: In Poland, every second Pole declares that he participated in this type of activity at least once. Addiction affects many other forms of human activity including sexuality. The aim of this research is to determine a connection of the quality of sexual life, undertaken sexual activity and personality traits with gambling addiction. MATERIAL AND METHODS: there were 95 adult male gamblers included in the research. The research group comprised 50 men addicted to gambling, the control group consisted of 45 non-dependent men. The research was conducted by means of: the NEO-Five Factor Inventory, the Sexual Quality of Life-Male questionnaire and the Changes in Sexual Functioning Questionnaire-Male. RESULTS: a negative, statistically significant connection between the intensification of gambling addiction and undertaken sexual activity (p = 0.026) and a general tendency of the decrease in sexual life along with the increase in addiction (p = 0.017) were determined. Also, a significant statistically positive connection between the intensification of a neuroticism feature and a tendency to gambling addiction (p = 0.003) was demonstrated. Additionally, the research results show that the increase in obtained results at the level of gambling addition corresponded to lower obtained results at the level of conscientiousness (p = 0.001) and agreeableness (p = 0.002). CONCLUSIONS: men addicted to gambling are characterised by a low level of the intensification of agreeableness and conscientiousness features in comparison to non-dependent people. There is a statistically significant connection between elevated neuroticism and a tendency to gambling addiction. The quality of sexual life in people addicted to gambling decreases along with the increase in the intensification of addiction

Seksualność kobiet z zespołem policystycznych jajników

Objectives: This study aimed to compare sexual function and sexual response, attitude toward sexuality, and relationships with sexual partners in women diagnosed with PCOS and healthy controls. Material and methods: The study included 73 women (aged 23–42 years) diagnosed with PCOS using the Rotterdam criteria and 45 healthy controls. All participants completed a questionnaire assessing socioepidemiological parameters and sexual behavior. Validated instruments were used to assess hirsutism (Ferriman-Gallwey Scale), mental health status (General Health Questionnaire 12 [GHQ 12]), sexuality (Sexuality Scale [SS], Sexual Awareness Questionnaire [SAQ], Multidimensional Sexuality Questionnaire [MSQ], Multidimensional Sexual Self-Concept Questionnaire [MSSCQ]), and sexual function (Polish version of the Mell-Krat Scale [SFK/K Scale]). Results: There were no statistically significant differences in the importance of sexual activity in both groups. Mean scores for the SFK/K Scale, SS, SAQ, MSQ, and MSSQ were similar among women with PCOS and controls, regardless of age. Similarly, sexual needs and reactions were perceived in the same way by both groups. In contrast, women with PCOS rated themselves negatively as sexual partners more frequently than controls. Conclusions: Sexual function and sexual response, attitude toward sexuality, as well as relationships with sexual partners were similar in PCOS subjects and healthy women. However, changes in physical appearance typically associated with PCOS result in deterioration of sexual function. Therefore, it is recommended that all PCOS patients should be referred to a sexual medicine specialist for consultation.Cel pracy: Celem pracy było porównanie funkcji seksualnych i reakcji seksualnych, postawy wobec seksualności, oraz relacje z partnerem seksualnym u kobiet, u których zdiagnozowano zespołem jajników policystycznych (PCOS) i kobiet zdrowych. Materiał i metody: Badaniami objęto grupę 73 kobiet w wieku 23-42 lat, u których zdiagnozowano PCOS wg kryteriów Rotterdamskich oraz grupę kontrolną – 45 zdrowych kobiet. Wszyscy uczestnicy badania wypełnili kwestionariusz zawierający pytania dotyczące parametrów demograficznych, społeczno-kulturowych oraz zachowań seksualnych. Ponadto zastosowano walidowane narzędzia do oceny: hirsutyzmu (Skala Ferriman-Gallwey), stanu zdrowia psychicznego (Kwestionariusze Ogólnego Stanu Zdrowia – GHQ 12), seksualności: Test Postaw Wobec Seksualności – SS, Test Seksualnej Samoświadomości - SAQ, Wielowymiarowy Test Seksualności – MSQ, Wielowymiarowy Test Seksualnego „Ja” – MSSCQ oraz funkcji seksualnych (polska wersja Mell-Krat Scale – SFK/K). Wyniki: Nie stwierdzono statystycznie istotnych różnic w znaczeniu aktywności seksualnej dla badanych kobiet w obu grupach. Średnie uzyskanych wyników dla skal: SFK/K, SS, SAQ, MSQ i MSSCQ były podobne u kobiet z PCOS i tych z grupy kontrolnej niezależnie od wieku. Podobnie, potrzeby seksualne i reakcje były postrzegane w taki sam sposób w obu grupach. Natomiast kobiet z PCOS oceniały siebie gorzej w roli partnerek seksualnych w porównaniu do zdrowych. Wnioski: Funkcje seksualne i reakcji seksualne, postawy wobec seksualności, a także relacje z partnerem seksualnym były podobne u osób z PCOS i zdrowych kobiet. Jednakże zmiany w wyglądzie fizycznym występujące u kobiet z PCOS mogą powodować pogorszenie funkcji seksualnych. Dlatego też zaleca się, aby wszyscy pacjenci z PCOS byli kierowany na konsultacje do specjalistów z dziedziny medycyny seksualnej

Using ALD To Bond CNTs to Substrates and Matrices

Atomic-layer deposition (ALD) has been shown to be effective as a means of coating carbon nanotubes (CNTs) with layers of Al2O3 that form strong bonds between the CNTs and the substrates on which the CNTs are grown. ALD is a previously developed vaporphase thin-film-growth technique. ALD differs from conventional chemical vapor deposition, in which material is deposited continually by thermal decomposition of a precursor gas. In ALD, material is deposited one layer of atoms at a time because the deposition process is self-limiting and driven by chemical reactions between the precursor gas and the surface of the substrate or the previously deposited layer

Palmitoylation of Desmoglein 2 Is a Regulator of Assembly Dynamics and Protein Turnover.

Desmosomes are prominent adhesive junctions present between many epithelial cells as well as cardiomyocytes. The mechanisms controlling desmosome assembly and remodeling in epithelial and cardiac tissue are poorly understood. We recently identified protein palmitoylation as a mechanism regulating desmosome dynamics. In this study, we have focused on the palmitoylation of the desmosomal cadherin desmoglein-2 (Dsg2) and characterized the role that palmitoylation of Dsg2 plays in its localization and stability in cultured cells. We identified two cysteine residues in the juxtamembrane (intracellular anchor) domain of Dsg2 that, when mutated, eliminate its palmitoylation. These cysteine residues are conserved in all four desmoglein family members. Although mutant Dsg2 localizes to endogenous desmosomes, there is a significant delay in its incorporation into junctions, and the mutant is also present in a cytoplasmic pool. Triton X-100 solubility assays demonstrate that mutant Dsg2 is more soluble than wild-type protein. Interestingly, trafficking of the mutant Dsg2 to the cell surface was delayed, and a pool of the non-palmitoylated Dsg2 co-localized with lysosomal markers. Taken together, these data suggest that palmitoylation of Dsg2 regulates protein transport to the plasma membrane. Modulation of the palmitoylation status of desmosomal cadherins can affect desmosome dynamics

Biodiversity and habitats of polar region polyhydroxyalkanoic acid-producing bacteria: bioprospection by popular screening methods

Polyhydroxyalkanoates (PHA), the intracellular polymers produced by various microorganisms as carbon and energy storage, are of great technological potential as biodegradable versions of common plastics. PHA-producing microbes are therefore in great demand and a plethora of different environments, especially extreme habitats, have been probed for the presence of PHA-accumulators. However, polar region have been neglected in this regard, probably due to the low accessibility of the sampling material and unusual cultivation regime. Here, we present the results of a screening procedure involving 200 bacterial strains isolated 25 habitats of both polar regions. Agar-based tests, microscopy and genetic methods were conducted to elucidate the biodiversity and potential of polar-region PHA-accumulators. Microscopic observation of Nile Red stained cells proved to be the most reliable screening method as it allowed to confirm the characteristic bright orange glow of the Nile Red – PHA complex as well as the typical morphology of the PHA inclusions. Psychrophilic PHA-producers belonged mostly to the Comamonadaceae family (Betaproteobacteria) although actinobacterial PHA synthesizers of the families Microbacteriaceae and Micrococcaceae also featured prominently. Glacial and postglacial habitats as well as developed polar region soils were evaluated as promising for PHA-producer bioprospection. This study highlights the importance of psychrophiles as biodiverse and potent polyhydroxyalkanote sources for scientific and application-aimed research