1,794 research outputs found

    A discursive psychology analysis of emotional support for men with colorectal cancer

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    Recent research into both masculinity and health, and the provision of social support for people with cancer has focussed upon the variations that may underlie broad assumptions about masculine health behaviour. The research reported here pursues this interest in variation by addressing the discursive properties of talk about emotional support, by men with colorectal cancer - an understudied group in the social support and cancer literature. Semi-structured interviews were conducted with eight men with colorectal cancer, and the transcripts analysed using an intensive discursive psychology approach. From this analysis two contrasting approaches to this group of men’s framing of emotional support in the context of cancer are described. First, talk about cancer was positioned as incompatible with preferred masculine identities. Second, social contact that affirms personal relationships was given value, subject to constraints arising from discourses concerning appropriate emotional expression. These results are discussed with reference to both the extant research literature on masculinity and health, and their clinical implications, particularly the advice on social support given to older male cancer patients, their families and friends

    Common variable immunodeficiency, impaired neurological development and reduced numbers of T regulatory cells in a 10-year-old boy with a STAT1 gain-of-function mutation

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    Recently, gain-of-function (GOF) mutations in the gene encoding signal transducer and activator of transcription 1 (STAT1) have been associated with chronic mucocutaneous candidiasis (CMC). This case report describes a 10-year-old boy presenting with signs of common variable immunodeficiency (CVID), failure to thrive, impaired neurological development, and a history of recurrent mucocutaneous Candida infections. Sequencing of the STAT1 gene identified a heterozygous missense mutation in exon 7 encoding the STAT1 coiled-coil domain (c.514T > C, p.Phe172Leu). In addition to hypogammaglobulinemia with B-cell deficiency, and a low percentage of Th17 cells, immunological analysis of the patient revealed a marked depletion of forkhead-box P3+-expressing regulatory T cells (Tregs). In vitro stimulation of T cells from the patient with interferon-α (IFNα) and/or IFNɣ resulted in a significantly increased expression of STAT1-regulated target genes such as MIG1, IRF1, MX1, MCP1/CCL2, IFI-56K, and CXCL10 as compared to IFN-treated cells from a healthy control, while no IFNα/ɣ-mediated up-regulation of the FOXP3 gene was found. These data demonstrate that the STAT1 GOF mutation F172L, which results in impaired stability of the antiparallel STAT1 dimer conformation, is associated with inhibited Treg cell development and neurological symptoms

    Criteria for the diagnosis of corticobasal degeneration

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    Current criteria for the clinical diagnosis of pathologically confirmed corticobasal degeneration (CBD) no longer reflect the expanding understanding of this disease and its clinicopathologic correlations. An international consortium of behavioral neurology, neuropsychology, and movement disorders specialists developed new criteria based on consensus and a systematic literature review. Clinical diagnoses (early or late) were identified for 267 nonoverlapping pathologically confirmed CBD cases from published reports and brain banks. Combined with consensus, 4 CBD phenotypes emerged: corticobasal syndrome (CBS), frontal behavioral-spatial syndrome (FBS), nonfluent/agrammatic variant of primary progressive aphasia (naPPA), and progressive supranuclear palsy syndrome (PSPS). Clinical features of CBD cases were extracted from descriptions of 209 brain bank and published patients, providing a comprehensive description of CBD and correcting common misconceptions. Clinical CBD phenotypes and features were combined to create 2 sets of criteria: more specific clinical research criteria for probable CBD and broader criteria for possible CBD that are more inclusive but have a higher chance to detect other tau-based pathologies. Probable CBD criteria require insidious onset and gradual progression for at least 1 year, age at onset ≥50 years, no similar family history or known tau mutations, and a clinical phenotype of probable CBS or either FBS or naPPA with at least 1 CBS feature. The possible CBD category uses similar criteria but has no restrictions on age or family history, allows tau mutations, permits less rigorous phenotype fulfillment, and includes a PSPS phenotype. Future validation and refinement of the proposed criteria are needed

    Association of crossed renal ectopia and aortic aneurism. Case report

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    OBJECTIVE: Renal malformations are rare entities and rarely have clinical consequences. Crossed renal ectopia has an incidence of 1/2.000 autopsies. The association with aortic aneurysm is even more exceptional. METHODS: We present our case and perform a bibliographic review. RESULTS: To date and in our knowledge , seven cases of crossed renal ectopia associated with aortic aneurysm were described on the literature. This malformation makes the treatment of the aneurysm more complex. The possibility of renal function decrease caused by injuries to the renal arteries during the surgical procedure is always present. Because of this risk of injury of the kidney during surgery preoperative evaluation of the vascularization must include image technologies as the MRI, CT-angiography or conventional arteriography. During the aortic intervention vascular conservation must be performed and it is necessary to minimize the time of renal ischemia. CONCLUSIONS: The association of crossed renal ectopia and aortic aneurysm is a rare event. The surgical intervention of the aorta does not have to necessarily originate a loss of renal function. Anyway the worsening of the renal clearance must be foreseen

    Respuesta y supervivencia libre de progresión en tumores vesicales en estadiosT2-T4 tratados con tratamiento trimodal de conservación vesical

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    Objective: Toevaluatetheresponseandthefree-survivalprogressioninpacientsdiagnosed of invasivebladdercancerwhohavebeentreatedwithtransurethralresection, chemotherapyandradiotherapy.Thismultimodaltreatmentiscomparedwithanot random serieofpatientstreatedbyradicalcistectomy. Material andmethods: Retrospectiveanalysisof43casesofinvasivebladdercancertreated with twoschemesofbladderpreservationbetween1994–2007.Theyarecomparedwith145 cases treatedwithradicalcistectomyinthesameperiodoftime. Pronosticvariablesincludedinthestudyareclinicalstage,gradeofdifferentiation, presence ofureteralobstruction,chemotherapymodality,radiotherapydosesandp53and ki-67 expression. Results: Meanandmediantimeare51and39monthsinpatientswithmultimodal treatment.Completeresponseisachievedin72%ofcasestreatedwithbladder preservation.Ureteralobstructionisaprognosticfactor(OR:7,3;p:0,02).72%patientswith complete responsemantainitattheendofthestudy.Noneofanalyzedvariablesare predictors ofmaintenanceoftheresponse. Survivalrateswithaintactbladderwere6977% and6177% atthreeandfiveyears. Radiotherapydosesgreaterthan60Gy(OR:6,1;po0,001) andtheabsenceofureteral obstruction (OR:7,5;po0,002) werepronosticvariables. Free-survivalinpatientswithcompleteresponsewas8077% and58710% atthreeand five years. At theendofthestudy,53,5%ofpatientshadaintactbladderandfree-disease. Inthesameperiodoftime,145radicalcistectomieswereperformedduetomuscleinvasive bladdercancer.Meanandmediantimeinthisgroupwere29and18monthsrespectively. Stadisticalanalysisrevealsaworseclinicalstageinthegroupofpatientstreatedwith multimodaltreatment(p:0.01). Free-survivalwas7275% and6377%at3and5yearsinthegroupofradical cistectomies.Therewasnotstadisticalsignificantdifferencesbetweencistectomiesand bladderpreservation. Conclusions: Patientstreatedwithbladderpreservationhaveafree-survivalsimilartothose tretedwithradicalcistectomy.Radiotherapy doses greaterthan60Gyandabsenceofureteral obstructionwerefree-survivalprognosticvariables

    Adrenalectomía laparoscópica por metástasis metácrona. Experiencia en 12 casos

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    To assess the peroperative and oncological results of laparoscopic adrenalectomy for an isolated metastasis. MATERIAL AND METHODS: A retrospective, descriptive study was conducted of 12 laparoscopic adrenalectomies performed for metastases out of a total of 40 adrenalectomies performed from May 1998 to April 2009. The primary tumor was pulmonary in 7 patients, renal in 3, and colonic in 2. Demographic data collected included median age, operating time, blood loss, complications, tumor size, and length of hospital stay. The Kaplan-Meier method was used to analyze survival. RESULTS: Operating time was 150 min (range, 90-206). Peroperative bleeding was 60 ml (range, 15-150). Peroperative complications occurred in 3% of patients. Tumor size was 4.5 cm (range, 1.3-8.5). No positive margins were seen in the resected specimens. Hospital stay was 3 days (range 3-5). Actuarial survival was 55.6% at 23 months (range, 2-38) with mean and median follow-up times of 20.9 and 23 months. CONCLUSIONS: In selected patients, laparoscopic adrenalectomy for metastasis is a safe procedure with oncological results superimposable to those of open surgery

    A replication study confirms the association of TNFSF4 (OX40L) polymorphisms with systemic sclerosis in a large European cohort

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    <p><b>Objectives</b> The aim of this study was to confirm the influence of TNFSF4 polymorphisms on systemic sclerosis (SSc) susceptibility and phenotypic features.</p> <p><b>Methods</b> A total of 8 European populations of Caucasian ancestry were included, comprising 3014 patients with SSc and 3125 healthy controls. Four genetic variants of TNFSF4 gene promoter (rs1234314, rs844644, rs844648 and rs12039904) were selected as genetic markers.</p> <p><b>Results</b> A pooled analysis revealed the association of rs1234314 and rs12039904 polymorphisms with SSc (OR 1.15, 95% CI 1.02 to 1.31; OR 1.18, 95% CI 1.08 to 1.29, respectively). Significant association of the four tested variants with patients with limited cutaneous SSc (lcSSc) was revealed (rs1234314 OR 1.22, 95% CI 1.07 to 1.38; rs844644 OR 0.91, 95% CI 0.83 to 0.99; rs844648 OR 1.10, 95% CI 1.01 to 1.20 and rs12039904 OR 1.20, 95% CI 1.09 to 1.33). Association of rs1234314, rs844648 and rs12039904 minor alleles with patients positive for anti-centromere antibodies (ACA) remained significant (OR 1.23, 95% CI 1.10 to 1.37; OR 1.12, 95% CI 1.01 to 1.25; OR 1.22, 95% CI 1.07 to 1.38, respectively). Haplotype analysis confirmed a protective haplotype associated with SSc, lcSSc and ACA positive subgroups (OR 0.88, 95% CI 0.82 to 0.96; OR 0.88, 95% CI 0.80 to 0.96; OR 0.86, 95% CI 0.77 to 0.97, respectively) and revealed a new risk haplotype associated with the same groups of patients (OR 1.14, 95% CI 1.03 to 1.26; OR 1.20, 95% CI 1.08 to 1.35; OR 1.23, 95% CI 1.07 to 1.42, respectively).</p> <p><b>Conclusions</b> The data confirm the influence of TNFSF4 polymorphisms in SSc genetic susceptibility, especially in subsets of patients positive for lcSSc and ACA.</p&gt

    Nefrectomía parcial laparoscópica. Análisis de los primeros 30 casos de nuestra serie y revisión de la literatura

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    Objective: Our goal is to analyze the surgical and clinicopathological results of our first 30 laparoscopic partial nephrectomies (LPN) performed consecutively and correlate the results with the literature. Material and methods: This is a cases series, with 30 patients (20 men and 10 women) operated between 2006 and 2008. We assessed the clinicopathological factors and complications. The mean and median follow-up was 25 and 5 months. Results: Resected tumors had an average size of 2.4 cm. 60% of the tumors were malignant. The pathological stage was pT1 in 100% of cases (47% grade I, 53% Fuhrman grade II). Surgical margins were positive in 3 cases, switching to open surgery. Intraoperative bleeding was 74.66 cc (35.7±SD) and 70 cc of mean and median. The mean operative time was 214.4min (±69) and ischemia time of 31.3min (±13.8). Conclusions: Our results are similar to those reported in the literature, except for positive margins and conversion attributable to the learning curve
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