Fatal neonatal nephrocutaneous syndrome in 18 Roma children with EGFR deficiency

Epidermal growth factor receptor (EGFR) is a transmembrane glycoprotein with tyrosine-kinase signaling activity, involved in many cellular functions including cell growth and differentiation. Germ line loss-of-function mutations in EGFR lead to a severe neonatal skin disorder (Online Mendelian Inheritance in Man #131550). We report 18 premature Roma children from 16 families with birthweights ranging 440–1470 g and multisystem diseases due to the homozygous mutation c.1283G˃A (p.Gly428Asp) in EGFR. They presented with thin, translucent, fragile skin (14/15), skin desquamation (10/17), ichthyosis (9/17), recurrent skin infections and sepsis (9/12), nephromegaly (10/16) and congenital heart defects (7/17). Their prognosis was poor, and all died before the age of 6 months except one 13-year-old boy with a severe skin disorder, dentinogenesis imperfecta, Fanconi-like syndrome and secondary hyperaldosteronism. Management of ion and water imbalances and extremely demanding skin care may improve the unfavorable outcome of such patients.     

Anti‐biofilm Effects of Honey Against Wound Pathogens Proteus mirabilis and Enterobacter cloacae

Biofilm growth and its persistence within wounds have recently been suggested as contributing factors to impaired healing. The goal of this study was to investigate the anti‐biofilm effects of several honey samples of different botanical origin, including manuka honey against Proteus mirabilis and Enterobacter cloacae wound isolates. Quantification of biofilm formation was carried out using a microtiter plate assay. All honeys at a sub‐inhibitory concentration of 10% (w/v) significantly reduced the biofilm development of both isolates. Similarly, at a concentration of 50% (w/v), each of the honeys caused significant partial detachment of Pr. mirabilis biofilm after 24 h. On the other hand, no honey was able to significantly detach Ent. cloacae biofilm. In addition, treatment of Ent. cloacae and Pr. mirabilis biofilms with all honeys resulted in a significant decrease in colony‐forming units per well values in a range of 0.35–1.16 and 1.2–7.5 log units, respectively. Of the tested honeys, manuka honey possessed the most potent anti‐biofilm properties. Furthermore, methylglyoxal, an antibacterial compound of manuka honey, was shown to be responsible for killing biofilm‐embedded wound bacteria. These findings suggest that manuka honey could be used as a potential therapy for the treatment of wounds containing Pr. mirabilis or Ent. cloacae. Copyright © 2013 John Wiley & Sons, Ltd.     

Application of salutogenic concept in social work with diabetic patients

In the context of salutogenesis, coping with diabetes is perceived as a dynamic process of changes in all aspects of biopsychosocial model of health/disease. Understanding of salutoprotective factors allows for estimation of client’s extent of vulnerability and ability to cope with the disease. The objective of the study is to assess selected salutoprotective factors in diabetic clients (SOC-type hardiness, well-being—subjective feelings and states scale [SUPOS], perceived social support scale [PSSS]). Low values of SOC, PSSS, and SUPOS suggest an increased need in psychosocial care. The possibility to strengthen an individual’s hardiness and to influence perceived social support adverts to the irreplaceable role of social workers at counseling and educational levels as well as that of a form of social support.     

Extensive hydroa vacciniforme

Hydroa Vaciniforme is a very rare photodermatosis that is mainly seen in childhood. An 18 year old female student reported that since the age of 5 she has been suffering necrotic lesions and vesicles lesions in exposed areas, leaving asymptomatic varioliform scars, which worsened in summer. Light microscopy showed epidermal necrosis with lymphocytic infiltration. Sunscreens were prescribed with light improvement.     

Regulation of transforming growth factor-β signaling as a therapeutic approach to treating colorectal cancer

According to data from 2020, Slovakia has long been among the top five countries with the highest incidence rate of colorectal cancer (CRC) worldwide, and the rate is continuing to rise every year. In approximately 80% of CRC cases, allelic loss (loss of heterozygosity, LOH) occurs in the long arm of chromosome 18q. The most important genes that can be silenced by 18q LOH or mutations are small mothers against decapentaplegic homolog (SMAD) 2 and SMAD4, which are intracellular mediators of transforming growth factor (TGF)-β superfamily signals. TGF-β plays an important role in the pro-oncogenic processes, including such properties as invasion, epithelial-mesenchymal transition (commonly known as EMT), promotion of angiogenesis, and immunomodulatory effects. Several recent studies have reported that activation of TGF-β signaling is related to drug resistance in CRC. Because the mechanisms of drug resistance are different between patients in different stages of CRC, personalized treatment is more effective. Therefore, knowledge of the activation and inhibition of factors that affect the TGF-β signaling pathway is very important.     

Nucleolar activity of haemocytes in the adult firebug as an alternative animal model

Firebug haemocytes are a newly developed alternative animal model, but data on their physiology are deficient. We examined the nucleolar activity, which reflects the intensity of cellular proteosynthesis, using toluidine blue and AgNOR stain technology. Prohaemocytes, granulocytes and plasmatocytes contain on an average two nucleoli, whereas spherulocytes have on average six. The number of compact nucleoli, which are the attribute of intensive proteosynthetic activity, was significantly higher in prohaemocytes. Our data support the hypothesis that prohaemocytes have a physiology similar to mammalian haematopoietic stem cells.