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    Wyświetlanie 1-7 z 7
    Tytuł:
    Desmoid tumor of the mesentery in a patient after restorative proctocolectomy as a result of familial adenomatous polyposis – case reports
    Autorzy:
    Krauze, Magdalena
    Nałęcz, Adam
    Dębski, Krzysztof
    Dobosz, Marek
    Powiązania:
    https://bibliotekanauki.pl/articles/1392634.pdf
    Data publikacji:
    2018
    Wydawca:
    Index Copernicus International
    Tematy:
    desmoid tumor
    familial adenomatous polyposis
    Opis:
    Desmoid (desmoid tumor) is a cytologically benign fibrous tumor that originates from musculoskeletal structures of the entire body [1]. The term „desmoid”, first introduced by Muller in 1838, derives from the Greek word desmos, which means tendinous [2]. The etiopathogenesis of desmoid is not fully understood, most reports of publications regarding its treatment are based on individual case reports. The prognosis is good, and healing is achieved mainly through surgical excision of the lesion. The aim of the paper is to present a case of a 33-year-old woman with diagnosed familial polyposis in the colon, who has been identified with mesenteric desmoid.
    Źródło:
    Polish Journal of Surgery; 2018, 90, 3; 53-58
    0032-373X
    2299-2847
    Pojawia się w:
    Polish Journal of Surgery
    Dostawca treści:
    Biblioteka Nauki
    Artykuł
    Tytuł:
    Desmoid tumor of the mesentery in a patient after restorative proctocolectomy as a result of familial adenomatous polyposis – case reports
    Autorzy:
    Krauze, Magdalena
    Nałęcz, Adam
    Dębski, Krzysztof
    Dobosz, Marek
    Powiązania:
    https://bibliotekanauki.pl/articles/1392635.pdf
    Data publikacji:
    2018
    Wydawca:
    Index Copernicus International
    Tematy:
    desmoid tumor
    familial adenomatous polyposis
    Opis:
    Desmoid (desmoid tumor) is a cytologically benign fibrous tumor that originates from musculoskeletal structures of the entire body [1]. The term „desmoid”, first introduced by Muller in 1838, derives from the Greek word desmos, which means tendinous [2]. The etiopathogenesis of desmoid is not fully understood, most reports of publications regarding its treatment are based on individual case reports. The prognosis is good, and healing is achieved mainly through surgical excision of the lesion. The aim of the paper is to present a case of a 33-year-old woman with diagnosed familial polyposis in the colon, who has been identified with mesenteric desmoid.
    Źródło:
    Polish Journal of Surgery; 2018, 90, 3; 53-58
    0032-373X
    2299-2847
    Pojawia się w:
    Polish Journal of Surgery
    Dostawca treści:
    Biblioteka Nauki
    Artykuł
    Tytuł:
    Familial Adenomatous Polyposis; 30-Year Observation of a Female Patient – Case Report
    Autorzy:
    Wnęk, Bartosz
    Strugała, Marcin
    Łożyńska-Nelke, Aleksandra
    Burdyński, Robert
    Krokowicz, Piotr
    Powiązania:
    https://bibliotekanauki.pl/articles/1395551.pdf
    Data publikacji:
    2015-02-01
    Wydawca:
    Index Copernicus International
    Tematy:
    familial adenomatous polyposis
    complications
    clinical follow-up
    Opis:
    Familial adenomatous polyposis (FAP) is a colorectal cancer syndrome caused by a germline mutation inherited in an autosomal-dominant pattern with a 100% penetrance. Our detailed case report presents a history of a 55-year-old FAP female patient who had been under constant clinical observation for 30 years. The disease was diagnosed at the age of 22. The patient underwent restorative proctocolectomy with ileal pouch-anal anastomosis (PRC-IPAA). During our follow-up extra-colonic manifestations occurred such as a desmoidtumour, fundic gland polyps in the stomach and duodenal polyps also in the periampullary region. Apart from disease-related symptoms the patient manifested other complications such as small bowel adhesive obstruction, benign breast tumours, uterine myomas, cholelithiasisand thyroid nodules. Our analysis of the above case presents advantages of a long-term medical observation of a FAP patient carried out by a specialist surgical medical centre
    Źródło:
    Polish Journal of Surgery; 2015, 87, 2; 86-90
    0032-373X
    2299-2847
    Pojawia się w:
    Polish Journal of Surgery
    Dostawca treści:
    Biblioteka Nauki
    Artykuł
    Tytuł:
    Transcriptional changes between uninflamed ulcerative colitis and familial adenomatous polyposis pouch mucosa can be attributed to an altered immune response
    Autorzy:
    Paziewska, Agnieszka
    Horbacka, Karolina
    Goryca, Krzysztof
    Mikula, Michal
    Jarosz, Dorota
    Dabrowska, Michalina
    Krokowicz, Piotr
    Karon, Jacek
    Ostrowski, Jerzy
    Powiązania:
    https://bibliotekanauki.pl/articles/1039136.pdf
    Data publikacji:
    2015
    Wydawca:
    Polskie Towarzystwo Biochemiczne
    Tematy:
    ulcerative colitis
    familial adenomatous polyposis
    pouch
    gene expression
    immune response
    Opis:
    A total proctocolectomy with ileal pouch-anal anastomosis (IPAA) is considered the surgery of choice for definitive management of familial adenomatous polyposis (FAP) and some patients with ulcerative colitis (UC). However, this surgical treatment is often associated with pouchitis, a long-term complication that occurs mostly in UC patients. The purpose of this study was to better define the molecular background of pouchitis. A microarray-based survey was performed using pouch mucosal samples collected from 28 and 8 patients undergoing surgery for UC and FAP, respectively. There were 4,770 genes that significantly differentiated uninflamed from inflamed mucosal samples, and their functional features were represented mostly by metabolic and cell proliferation pathways. In contrast, functional analyses of aberrantly expressed genes between UC and FAP samples, irrespective of mucosal inflammation status, revealed multiple pathways and terms that were linked to changes in immune response. Interestingly, the comparison of uninflamed UC and FAP samples identified a set of 29 altered probe sets, including an inflammation-related transcript encoding a Charcot-Leyden crystal (CLC) protein. The most distinct changes in gene expression profiles differentiating uninflamed UC and FAP pouch mucosal samples were attributed to the Gene Ontology category innate immune response. Our study confirmed that alterations in immune responses can be found between patients who underwent surgery for UC and FAP, independent of the pouch inflammation status. This observation may be important when managing IPAA patients.
    Źródło:
    Acta Biochimica Polonica; 2015, 62, 1; 69-75
    0001-527X
    Pojawia się w:
    Acta Biochimica Polonica
    Dostawca treści:
    Biblioteka Nauki
    Artykuł
    Tytuł:
    Sexual activity in patients after proctocolectomy with ileal pouch-anal anastomosis
    Autorzy:
    Kluska, Piotr
    Dzika-Andrysiak, Katarzyna
    Mik, Michał
    Zelga, Piotr
    Włodarczyk, Marcin
    Kujawski, Ryszard
    Dziki, Łukasz
    Dziki, Adam
    Trzciński, Radzisław
    Powiązania:
    https://bibliotekanauki.pl/articles/1391528.pdf
    Data publikacji:
    2021
    Wydawca:
    Index Copernicus International
    Tematy:
    familial adenomatous polyposis
    quality of sexual life
    restorative proctocolectomy
    ulcerative colitis
    Opis:
    Introduction: Proctocolectomy with ileal pouch-anal anastomosis is the gold standard in the surgical treatment of patients with ulcerative colitis, familial adenomatous polyposis and other colorectal diseases requiring colectomy. The treatment consists in removing the large intestine and creating an intestinal reservoir from the last ileum loop and then anastomosing the intestinal reservoir with the anal canal. Like any surgical procedure, RPC-IPAA also carries the risk of complications, both early and late. Late postoperative complications include sexual dysfunction. Aim: The main goal of the following work is to assess the quality of life and sexual activity in patients having undergone the RPC-IPAA procedure at the General and Colorectal Surgery Clinic. Material and methods: The study group consisted of patients aged 19–79 who had been subjected to RPC-IPAA procedures at the General and Colorectal Surgery Clinic in years 2010–2019. The study was conducted on the basis of a survey consisting of 50 questions about the social and mental condition, medical history and previous treatment as well as the quality of sexual life before and after surgery. The scale used for the assessment of the quality of sex life consisted of 5 grades: very low, low, medium, high, very high. Thirty subjects (21 men and 9 women) took part in the survey. Ulcerative colitis (86.6%) was the most common reason for qualification for restorative proctectomy among the examined patients; less common reasons included familial adenomatous polyposis (13.3%) and synchronous colorectal cancer (3.3%). A vast majority of the surgeries had been performed after 10 years’ duration of ulcerative colitis, and the intestinal reservoir had been functioning for over a year at the time of the examination. In addition, the effect of taking steroids and the impact of early postoperative complications on the quality of sex life of patients was assessed. Results: High or very high sexual activity before surgery was reported by 46% of patients whereas low or very low quality was reported by 13%. The rest of the responders assessed their pre-operative sexual activity as average. After surgery, 23% of patients rated their sexual activity as high or very high while 36.6% of patients rated it as low or very low (P = 0.07). It was also noted that taking corticosteroids before surgery decreased the quality of sex life after surgery (P = 0.07 for activity, P = 0.04 for quality). None of the women surveyed used artificial moisturizing of intimate places during sex. Only 1 person stated that they started using artificial moisturization of intimate places after the procedure (P = 0.5). None of the men surveyed had used pharmacological agents to help them obtain an erection before surgery while as many as 33% of responders reported the need for their use after surgery (P = 0.008). Other postoperative sexual dysfunctions were also registered, such as dyspareunia (13.3%), sensory disorder within the intimate region, fecal incontinence, and urinary incontinence. Conclusions: To sum up, sexual activity and quality of sexual life deteriorated after RPC-IPAA in our patients.
    Źródło:
    Polish Journal of Surgery; 2021, 93, 1; 19-24
    0032-373X
    2299-2847
    Pojawia się w:
    Polish Journal of Surgery
    Dostawca treści:
    Biblioteka Nauki
    Artykuł
    Tytuł:
    Familial polyposis coli - inducing mutations in APC gene in Poland
    Autorzy:
    Pawlak, A L
    Plawski, A
    Smoczkiewicz, P
    Kwiatkowska, J
    Meissner, W
    Krokowicz, P
    West, S P
    Powiązania:
    https://bibliotekanauki.pl/articles/2046600.pdf
    Data publikacji:
    1997
    Wydawca:
    Polska Akademia Nauk. Czytelnia Czasopism PAN
    Tematy:
    familial adenomatous polyposis
    protein truncation test
    Polish population
    mutation
    polymerase chain reaction
    heteroduplex analysis
    Opis:
    Screening for molecular changes within the adenomatous polyposis coli (APC) gene, exons 11-14 and the 5’ half of exon 15, encompassing the mutation cluster region within exon 15, was performed in 30 patients with Familial Polyposis Coli (FAP). All patients were studied by heteroduplex analysis (HA) and single strand conformation polymorphism (SSCP) and molecular changes were found in 7 cases. Protein truncation test (PTT) has been performed in 17 cases in which mutations have not been found earlier, and shortening of protein product was noted in 2 cases. In three cases common deletion of 5 bp at codon 1309 and in one 5 bp deletion at codon 1061 were found. In other cases the molecular changes were demonstrated as heteroduplexes in exon 14 (1 patient), in segments E and F (one patient each) of exon 15, and in two cases the heteroduplexes were within the overlapping sequences of segments E/F and F/G of exon 15, respectively. In families where the molecular changes were found by HA, 7 persons at high risk for FAP were found and advised to undergo regular endoscopic examinations. In three persons at risk the transfer of mutation was excluded.
    Źródło:
    Journal of Applied Genetics; 1997, 38, 1; 77-85
    1234-1983
    Pojawia się w:
    Journal of Applied Genetics
    Dostawca treści:
    Biblioteka Nauki
    Artykuł
    Tytuł:
    Hepatoblastoma of early childhood as an indicator of Gardner’s syndrome
    Złośliwy guz wątroby wieku dziecięcego jako wyznacznik syndromu Gardnera
    Autorzy:
    Wojnicka-Stolarz, Małgorzata
    Juza, Anna
    Staroń, Robert
    Lewandowski, Bogumił
    Gutkowski, Krzysztof
    Powiązania:
    https://bibliotekanauki.pl/articles/437845.pdf
    Data publikacji:
    2013
    Wydawca:
    Uniwersytet Rzeszowski. Wydawnictwo Uniwersytetu Rzeszowskiego
    Tematy:
    Familial adenomatous polyposis
    tumor suppressor gene APC
    Gardner’s syndrome
    Rodzinna polipowatość gruczolakowata
    antyonkogen APC
    zespół Gardnera
    Opis:
    Familial adenomatous polyposis (FAP) is a genetically determined disease characterized by the presence of multiple colorectal adenomatous polyps (usually more than 100). FAP and its variants are caused by mutations in the tumor suppressor gene (adenomatous polyposis coli - APC), located on chromosome 5q21-q22 and also MUTYH gene mutation. This syndrome accounts for about 1 percent of all colorectal cancers. FAP connected with APC follows an autosomal dominant pattern, MUTYH gene mutation is recessively inherited, but up to 25 percent cases are due to new or de novo gene mutations. Clinical manifestations of FAP are not only a presence of multiple colorectal polyps, but also a number of extracolonic manifestation associations with this disease. We present a case of Gardner’s syndrome being a rare variant of FAP diagnosed in 21-year-old male patient who has been treated due to hepatoblastoma in early childhood
    Rodzinna polipowatość gruczolakowata (FAP) jest uwarunkowanym genetycznie schorzeniem charakteryzujące się obecnością mnogich polipów gruczolakowatych jelita grubego (zazwyczaj>100). Istotę FAP stanowią mutacje (zarodkowe i somatyczne) antyonkogenu w genie supresorowym APC (adenomatous polyposis coli) zlokalizowanym na chromosomie 5q21-q22, a także mutacja dotycząca dwóch alleli w genie MUTYH. Zespół ten odpowiada za około 1% wszystkich zachorowań na raka jelita grubego. Dziedziczy się w sposób autosomalny dominujący (mutacja APC), lub autosomalnie recesywnie (MUTYH), lecz 25% przypadków jest związanych z mutacjami powstającymi de novo. Poza obecnością licznych polipów w obrębie jelita grubego, FAP charakteryzuje się występowaniem szeregu objawów pozajelitowych. Przedstawiamy przypadek zespołu Gardnera będącego rzadkim wariantem FAP rozpoznanego u 21-letniego pacjenta, który był leczony we wczesnym dzieciństwie z powodu wątrobiaka zarodkowego
    Źródło:
    Medical Review; 2013, 3; 418-423
    2450-6761
    Pojawia się w:
    Medical Review
    Dostawca treści:
    Biblioteka Nauki
    Artykuł
      Wyświetlanie 1-7 z 7

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