To identify new risk variants for cutaneous basal cell carcinoma, we performed a genome-wide association study of 16 million SNPs identified through whole-genome sequencing of 457 Icelanders. We imputed genotypes for 41,675 Illumina SNP chip-typed Icelanders and their relatives. In the discovery phase, the strongest signal came from rs78378222[C] (odds ratio (OR) = 2.36, P = 5.2 × 10−17), which has a frequency of 0.0192 in the Icelandic population. We then confirmed this association in non-Icelandic samples (OR = 1.75, P = 0.0060; overall OR = 2.16, P = 2.2 × 10−20). rs78378222 is in the 3′ untranslated region of TP53 and changes the AATAAA polyadenylation signal to AATACA, resulting in impaired 3′-end processing of TP53 mRNA. Investigation of other tumor types identified associations of this SNP with prostate cancer (OR = 1.44, P = 2.4 × 10−6), glioma (OR = 2.35, P = 1.0 × 10−5) and colorectal adenoma (OR = 1.39, P = 1.6 × 10−4). However, we observed no effect for breast cancer, a common Li-Fraumeni syndrome tumor (OR = 1.06, P = 0.57, 95% confidence interval 0.88–1.27).
patologic corect, imunohistochimia ne oferă un diagnostic de certitudine. Introducerea unui protocol de supraveghere endoscopică pentru pacienţii cu cancer lobular de sân ar putea fi o propunere pentru detectarea precoce a metastazelor gastrice care să permită o terapie adecvată.Cuvinte cheie: metastaze gastrice, cancer de sân lobular, teste imunohistochimice, endoscopie superioară Abstract Introduction: The predilection of lobular invasive breast cancer metastasis for the stomach is a topic that has succumbed to various assumptions over the time. Background and Aims: Gastric metastasis of lobular breast cancer is unusual and it can be diagnosed after a long period of time from primary tumor diagnosis. The aim of this study was to review current knowledge regarding the current methods of diagnosis and treatment of gastric metastasis of breast cancer. Methods: A systematic literature search was performed in the Pub-Med -Medline database using the terms "gastric metastasis of lobular breast cancer" and "gastric metastasis features" to identify articles relevant to gastric metastasis of lobular breast cancer. Results: Several papers have shown that the topic is rarely presented in the form of case presentations or miniseries by summing up sporadic cases. Due to its rarity and metastasis specificity as host type and appearance after latency of lobular breast cancer makes its gastric metastasis considered atypical and occasionally confused with a primary stomach malignancy. The most recent articles present the immunohistochemical diagnostic criteria of this clinical entity and a new therapeutic approach. Conclusion: At patients with gastric metastasis of lobular breast cancer, obtaining pathologic material and biopsies interpretation can be a real challenge for getting a correct pathologic diagnosis, immunohistochemistry gives us definite diagnosis. The introduction of an endoscopic surveillance protocol for patients with lobular breast cancer could be a proposal for the detection of early gastric metastases allowing for appropriate therapy.
Background Ambulatory management of isolated acute deep venous thrombosis (DVT) is the recommended standard of care in selected populations. However, in practice a significant number of patients continue to be managed as in-patients. Objectives In this study we aimed to evaluate acute DVT treatment pathways in our emergency department (ED) in practice and to identify barriers to outpatient management. Methods This study was a cross-sectional analysis of prospectively collected data pertaining to consecutive patients presenting to the ED of a large, city center, academic teaching hospital over a 46 week period who were diagnosed with DVT. Results Implementation of an outpatient care pathway led to the majority of patients presenting with DVT in our institution being treated without hospital admission. Forty percent (31/78) of patients with DVT were treated with a direct oral anticoagulant (DOAC) as an outpatient in line with international best practice guidelines. Conclusion The study provides a clear picture of the clinical profile and management of patients in clinical practice. Due to the lack of resources and supported infrastructure it is difficult to effectively implement outpatient venous thromboembolism (VTE) management to its full potential. Directing resources towards strategies which facilitate outpatient DVT treatment among vulnerable patient groups could represent a means of reducing hospital admissions for DVT in urban centers. Our study highlights the success and clinical limitations of the outpatient treatment model, which should become standard as part of wider VTE care.
Introducere: Fistulele esofagiene postoperatorii reprezintã una dintre importantele cauze de mortalitate şi morbiditate postoperatorie. Scopul acestui studiu a fost de a revizui cunoştinţele actuale cu privire la metodele actuale de diagnostic şi management al fistulelor esofagiene postoperatorii Metodă: O căutare sistematică a literaturii a fost efectuată în baza de date PubMed/Medline folosind termenii "fistule esofagiene postoperatorii" şi "complicaţii postesofagectomie" pentru a identifica articole relevante pentru diagnosticul actual şi tratamentul profilactic şi curativ al fistulelor anastomotice postesofagectomie. Rezultate: Mai multe lucrări au arătat că incidenţa fistulelor variază şi este dependentă de mai mulţi factori: localizarea anastomozei, tipul de sutură utilizat, condiţia biologică a pacientului. Datorită gravităţii fistulei anastomotice mediastinale se acordă actual o mare importanţă metodelor de prevenire a apariţiei sale prin testarea intraoperatorie sau îmbunătăţirea vascularizaţiei tubului gastric. Cele mai recente articole prezintă metodele endoscopice de tratament al acestei complicaţii prin utilizarea stenturilor esofagiene acoperite şi a terapiei endoluminale cu vacuum. Concluzii: La pacienţii cu fistule esofagiene postoperatorii mediastinale, diagnosticul şi managementul reprezintă o adevărată provocare pentru echipa chirurg-endoscopist-terapeut. Diagnosticarea precoce şi instituirea unei terapii optime care să se adreseze defectului parietal şi statusului biologic a pacientului sunt condiţii obligatorii pentru rezolvarea acestei complicaţii postoperatorii.
Introduction: Tumors of ileo-caecal valve are most clinically manifested either through transit disorders or anemic syndrome. The 88-year-old patient is admitted for abdominal pain in the left flank, vomiting, asthenia and lack of intestinal transit for faeces, with a progressive onset of one week. Clinical examination: generalized affected state, wide abdomen, painful left flank and hypochondrium, lack of intestinal transit and pallor. Paraclinic: severe hypochromic microchrome anemia (hemoglobin: 5.8 g / dl). Plain radiography: hydro-aeric levels in the left hypochondrium. Abdominal CT: ileo-colic intussusception that completely occupies the ascending colon to the hepatic flexure, with no visible tumoral lesions. After hydroelectrolytic and hemodynamic balancing with restoration of intestinal transit, colonoscopy is performed: 5 cm ulcer-vegetative tumor formation at the ileo-caecal valve level - biopsy with histopathological examination: moderately differentiated adenocarcinoma. Patient refuses surgery. After 3 weeks, the patient returns to the clinic for the recurrence of digestive symptoms and emergency surgery is performed: laparotomy by median suprasubombilical incision, finding: ileo-ceco-appendico-colic invagination up to the middle third of the transverse colon, defective attachment of ascending colon, ileum dilated with thick wall. The invagination is reduced, the tumor formation is discovered. Right hemicolectomy with ileotransversoanastomosis is performed. Postoperatively, the patient shows a simple evolution with discharge of the 9th postoperative day. Conclusions: The ileocolic invagination in adults is most often the appearance of a tumor located on mobile segments of the intestine. The right colon invagination is possible when there is a defect of acolation, anatomical peculiarity encountered in the presented case.
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