Hypercalciuria in a Child with Acral Peeling Skin Syndrome: A Case Report

We present a case of 3-year-old Caucasian boy who developed monthly cyclic attacks of skin peeling of the palms and soles over 1.5 years. The skin peeling was associated with hypercalciuria. No mutation was present in TGM5 and CSTA genes, but the typical clinical picture and the biopsy from flaccid blisters on the feet confirmed the acral peeling skin syndrome (APSS). The possible associations of rare genetic disorders and metabolic conditions in the course of APSS need to be investigated.</p

Hypercalciuria in a Child with Acral Peeling Skin Syndrome: A Case Report

We present a case of 3-year-old Caucasian boy who developed monthly cyclic attacks of skin peeling of the palms and soles over 1.5 years. The skin peeling was associated with hypercalciuria. No mutation was present in TGM5 and CSTA genes, but the typical clinical picture and the biopsy from flaccid blisters on the feet confirmed the acral peeling skin syndrome (APSS). The possible associations of rare genetic disorders and metabolic conditions in the course of APSS need to be investigated.</p

The Impairment of Wound Healing Process is Correlated With Abnormalities of TNF-α Production by Peritoneal Exudate Cells in Obstructive Jaundiced Rats

The wound healing process and production of tumour necrosis factor alpha (TNF-α) by peritoneal cells of 7-day and 14-day obstructive jaundice (OJ) and sham-operated rats were investigated. In the study the skin wound breaking strength was measured, In addition such histological and biochemical parameters as fibroblast and endothelial cell proliferation, inflammatory cell infiltration and hydroxyproline content were evaluated in polyurethane sponge discs implanted subcutaneously into rats. TNF-α production by peritoneal exudate cells (PEC), both spontaneous and lipopolysaccharide (LPS)- induced was determined by a bioassay. In OJ rats the process of both early as well as late phase of healing was impaired. The breaking strength of skin wound was decreased, the fibroblast and endothelial cell proliferation and collagen deposition, as well as hydroxyproline content were diminished. In 7 day OJ the numbers of inflammatory cells in the implants were lowered with a subsequent slight increase on day 14 of OJ. The spontaneous and LPS induced TNF- α production by PEC were significantly higher in 7 day OJ as compared with sham-operated controls. On day 14 of OJ the LPS-induced TNF-α level was, in contrast, much lower and did not differ much from the spontaneous TNF-α production. We conclude that the impairment of wound healing in OJ results from disturbances in functioning of the immune system caused by systemic endotoxaemia

Drug-induced hypersensitivity syndrome - a literature review and the case report

Drug-induced hypersensitivity syndrome (DIHS) is characterized by fever, rash and internal organ involvement, mostly in form of hepatitis, myocarditis, nephritis or pneumonitis, which may occur 1&#8211;8 weeks after medicine exposure. Fever is an early feature, usually preceding a widespread erythematous skin eruption, but the severity of the skin-related changes does not correlate with the extent of internal organ involvement. It is considered that anticonvulsants (particularly carbamazepine), antibiotics, allopurinol are the most frequent causative agents of DIHS. The underlying mechanisms causing DIHS are poorly understood - defective detoxification of the reactive drug&#8217;s metabolites or genetic predisposition have been implicated. Diagnosis of DIHS is based on clinical presentation connected with drug intake, supported by a finding of eosinophilia, increased concentration of inflammation markers and abnormal biochemical parameters, mainly liver function tests. Treatment consists of immediate withdrawal of all suspected medicines, followed by supportive systemic corticosteroids. We describe a case of a 72-years-old female who developed symptoms of drug-induced hypersensitivity syndrome after approximately 4 weeks of taking anticonvulsant (Amizepin) due to sensual axonal polyneuropathy. Withdrawal of drug and treatment with systemic corticosteroids caused clinical improvement rapidly. Pneumonol. Alergol. Pol. 2011; 79, 1: 52-56Zespół nadwrażliwości indukowanej lekami (DIHS) charakteryzuje się występowaniem: gorączki, wysypki i zajęciem narządów wewnętrznych, najczęściej wątroby, mięśnia sercowego, nerek lub płuc, które mogą się pojawić w okresie 1-8 tygodni po ekspozycji na lek. Wzrost ciepłoty ciała jest zazwyczaj pierwszym pojawiającym się objawem, do którego dołączają rumieniowe wykwity skórne, jednak nasilenie zmian związanych z powłokami skórnymi nie jest związane ze stopniem zajęcia narządów wewnętrznych. Uważa się, że leki przeciwdrgawkowe (szczególnie karbamazepina), antybiotyki, allopurinol są jednymi z najczęstszych przyczyn DIHS. Patomechanizm tego zespołu jest słabo poznany - pod uwagę bierze się między innymi wadliwy proces detoksykacji reaktywnych metabolitów leków czy predyspozycje genetyczne pacjenta. W rozpoznaniu zespołu nadwrażliwości indukowanej lekami, poza charakterystycznymi objawami zapoczątkowanymi zastosowaniem leku, pomocne może być stwierdzenie eozynofilii, podwyższonych wykładników stanu zapalnego oraz nieprawidłowości w wynikach badań czynności narządów wewnętrznych, głównie wątroby. Leczenie DIHS polega na natychmiastowym wycofaniu wszystkich podejrzanych leków oraz włączeniu kortykosteroidów. W pracy przedstawiono opis przypadku 72-letniej pacjentki, u której po około 4 tygodniach leczenia preparatem przeciwpadaczkowym (Amizepin) z powodu polineuropatii aksonalno-czuciowej doszło do wystąpienia objawów zespołu nadwrażliwości indukowanej lekiem. Odstawienie wymienionego leku i zastosowanie glikokortykosteroidów systemowych spowodowało ustąpienie objawów klinicznych. Pneumonol. Alergol. Pol. 2011; 79, 1: 52-5

Validation of selected molecular methods for the mutations determination in codons 12 and 13 of K-RAS gene in five Polish oncological research centers

Chorzy na raka jelita grubego z przerzutami mogą osiągnąć korzyść z leczenia panitumumabem jedynie, jeśli w guzie nie stwierdzono mutacji w genie K-RAS. W związku z tym konieczne jest zbadanie statusu tego genu w celu wyłonienia chorych, którzy mogą być poddani takiemu leczeniu. Celem pracy było opracowanie standardowej procedury oznaczania statusu genu K-RAS w materiale izolowanym z bloczków parafinowych. Kolejnym celem była walidacja wybranych technik molekularnych oznaczania mutacji w pięciu ośrodkach w Polsce, w których odbywa się leczenie chorych na raka jelita grubego. Ocenie poddano cztery różne techniki oznaczania mutacji: SSCP, DHPLC, RFLP/PCR i bezpośrednie sekwencjonowanie. Stwierdzono, że wszystkie jednostki uczestniczące w procesie walidacji są odpowiednio przygotowane do podjęcia działalności diagnostycznej w zakresie oznaczania statusu genu K-RAS. Przyjęto następujące zalecenia dla laboratoriów diagnostycznych: 1. Materiał do izolacji DNA powinien zawierać przynajmniej 70% utkania nowotworowego; 2. Ujednolicenie procedury izolacji DNA ze skrawków parafinowych wymaga stosowania gotowego zestawu do izolacji DNA; 3. W przypadku braku jednoznacznego wyniku konieczne jest stosowanie dwóch metod oznaczania mutacji, przy czym jedną z nich powinno być sekwencjonowanie bezpośrednie.Metastatic colorectal cancer patients will benefit from treatment with panitumumab only when they don't have mutation in K-RAS gene. Therefore, estimation of mutational status of K-RAS is necessary for the selection of patients, who should be treated with panitumumab. The aim of this study was to evolve a standard method of estimation of K-RAS mutational status in the material isolated from paraffin blocs. The second aim was the validation of selected molecular methods of K-RAS mutation evaluation in five Polish oncological centers where mCRC patients are treated. Four methods were evaluated: SSCP, DHPLC, RFLP/PCR and direct sequencing. We found that all groups in five selected oncological centers, who took part in the validation process, were well prepared for molecular diagnosis of K-RAS mutational status. The following recommendations for diagnostic laboratories were approved: 1. At least 70% of cancer cells should be present in a tissue for DNA isolation; 2. The method of DNA isolation should be standardized, the most appropriate is usage of DNA isolation kits; 3. In case of equivocal results two independent molecular methods should be employed, one of them should be direct sequencing

Społeczne i ekologiczne aspekty zarządzania

Praca recenzowana / peer-reviewed pape

Innovations as a business risk in enterprises

Purpose: Nowadays, the creative industry is a dynamically developing area in the economies of many regions and even whole countries. Enterprises of the creative industry are able to increase the value of life of many people, as well as generate the broadly understood welfare. In this case, it is worth to identify peculiarity of innovative processes and risk management in this kind of enterprises. Design/methodology/approach: In the article, there is described peculiarity of the creative industry in the national economy in Poland in the area of innovative activities. An analysis of the impact of risk on these activities is presented. The paper presents the results of a survey carried out in four industries that are compatible with the Polish Classification of Activity (advertising, architecture & urbanity, IT & software, design). The leading research tool was the CATI questionnaire. To test the statistical significance methods of non-parametric statistics were used. Findings: On the basis of the research results’ analysis, it can be concluded that risk management under the conditions of functioning of enterprises from the creative industry in Poland is not an inherent element of the decision-making processes in the sphere of innovative activities. Originality/value: The article addresses the issue of managing innovation processes in enterprises of the creative industry – with a particular focus on risk management. This issue has not been sufficiently analysed in the Polish and international scientific literature yet. The article also provides a guidance on how to manage risk in innovative processes in the creative industry