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1.
J Med Genet ; 57(4): 226-236, 2020 04.
Artigo em Inglês | MEDLINE | ID: mdl-31719169

RESUMO

BACKGROUND: Germline TP53 gene pathogenic variants (pv) cause a very high lifetime risk of developing cancer, almost 100% for women and 75% for men. In the UK, annual MRI breast screening is recommended for female TP53 pv carriers. The SIGNIFY study (Magnetic Resonance Imaging screening in Li Fraumeni syndrome: An exploratory whole body MRI) study reported outcomes of whole-body MRI (WB-MRI) in a cohort of 44 TP53 pv carriers and 44 matched population controls. The results supported the use of a baseline WB-MRI screen in all adult TP53 pv carriers. Here we report the acceptability of WB-MRI screening and effects on psychosocial functioning and health-related quality of life in the short and medium terms. METHODS: Psychosocial and other assessments were carried out at study enrolment, immediately before MRI, before and after MRI results, and at 12, 26 and 52 weeks' follow-up. RESULTS: WB-MRI was found to be acceptable with high levels of satisfaction and low levels of psychological morbidity throughout. Although their mean levels of cancer worry were not high, carriers had significantly more cancer worry at most time-points than controls. They also reported significantly more clinically significant intrusive and avoidant thoughts about cancer than controls at all time-points. There were no clinically significant adverse psychosocial outcomes in either carriers with a history of cancer or in those requiring further investigations. CONCLUSION: WB-MRI screening can be implemented in TP53 pv carriers without adverse psychosocial outcomes in the short and medium terms. A previous cancer diagnosis may predict a better psychosocial outcome. Some carriers seriously underestimate their risk of cancer. Carriers of pv should have access to a clinician to help them develop adaptive strategies to cope with cancer-related concerns and respond to clinically significant depression and/or anxiety.


Assuntos
Síndrome de Li-Fraumeni/diagnóstico , Imageamento por Ressonância Magnética , Neoplasias/diagnóstico , Proteína Supressora de Tumor p53/genética , Adulto , Feminino , Predisposição Genética para Doença , Mutação em Linhagem Germinativa/genética , Heterozigoto , Humanos , Síndrome de Li-Fraumeni/diagnóstico por imagem , Síndrome de Li-Fraumeni/genética , Síndrome de Li-Fraumeni/patologia , Masculino , Pessoa de Meia-Idade , Neoplasias/diagnóstico por imagem , Neoplasias/genética , Neoplasias/patologia , Fatores de Risco , Imagem Corporal Total , Adulto Jovem
2.
Int Urogynecol J ; 31(8): 1559-1566, 2020 08.
Artigo em Inglês | MEDLINE | ID: mdl-31853599

RESUMO

INTRODUCTION: An increasing number of women are presenting with symptoms after the placement of mesh implants for prolapse which may be attributable to a mesh implant complication. MRI imaging can be used to evaluate abdominally placed mesh but there is no published research evaluating the use of MRI in this group of women. The objective of our study was to report our experience as a tertiary centre in evaluating abdominal mesh with MR imaging and the agreement of MR reports with surgical findings. STUDY DESIGN: A retrospective observational cohort study (Canadian Task Force classification II-2) of all women referred to our tertiary unit who underwent an MR scan for investigation of symptoms of mesh complication following an abdominally placed mesh implant between June 2006 and September 2018 was performed. The reports of MR images were compared with the findings at surgery. RESULTS: MR scan was performed in 87 with suspected mesh complications. MR scan detected mesh failure in 42.1% of women (37/87), infection in 12.6% (11/87), compression in 2.3% (2/87), exposure in 12.6% (11/88), bowel extrusion in 2.3% (2/87) and inflammation in 11.5% (10/87). Agreement between MR scan report and surgical diagnosis was almost perfect for mesh failure, infection and compression, whilst agreement was only moderate for mesh erosion and signs of inflammation (failure κ = 0.97, infection κ = 0.94, compression κ = 1.0, exposure κ = 0.58 and inflammation κ = 0.24). CONCLUSION: These data provide information on the role of MR imaging in the investigation of women presenting with suspected intra-abdominal POP mesh complications including recurrence.


Assuntos
Prolapso de Órgão Pélvico , Telas Cirúrgicas , Feminino , Humanos , Imageamento por Ressonância Magnética , Prolapso de Órgão Pélvico/diagnóstico por imagem , Prolapso de Órgão Pélvico/cirurgia , Complicações Pós-Operatórias/diagnóstico por imagem , Complicações Pós-Operatórias/etiologia , Estudos Retrospectivos , Telas Cirúrgicas/efeitos adversos , Resultado do Tratamento
3.
Int J Surg Case Rep ; 41: 502-504, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-29546027

RESUMO

INTRODUCTION: Duplication of the gallbladder (GB) is a very rare surgical encounter affecting 1 in 4000-5000 population that often eludes detection on preoperative ultrasonography, and might increase operative difficulty and risk. The H-type anomaly is the most common whereby each GB drains into the common bile duct via a separate cystic duct. PRESENTATION OF CASE: We report a young female patient with symptomatic gallstones who was incidentally found to have abnormal biliary anatomy on a CT colonography and an H-type duplication of the GB on MRCP. A challenging laparoscopic double cholecystectomy was performed uneventfully. DISCUSSION: Gallbladder duplication can be classified as a type-I anomaly (partiality split primordial gallbladder), a type-II anomaly (two separate gallbladders, each with their own cystic duct) or a rare type-III anomaly (triple gallbladders draining by 1-3 separate cystic ducts).Such anatomical variations are associated with increased operative difficulty and risks, including conversion to open cholecystectomy and common bile duct injury. CONCLUSION: A young female patient was pre-operatively diagnosed with a Harlaftis's type-II GB anomaly. Each gallbladder was drained by a distinct cystic duct (H-type anomaly). A laparoscopic cholecystectomy was performed with no complications afterwards. Awareness of this rare anomaly might require intraoperative cholangiography when initially suspected during a cholecystectomy to facilitate anatomical recognition and avoid missing a symptomatic pathologic GB and the need for a repeat cholecystectomy.

4.
Radiology ; 238(3): 929-37, 2006 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-16424250

RESUMO

PURPOSE: To retrospectively determine the accuracy of endorectal magnetic resonance (MR) imaging in demonstrating seminal vesicle invasion (SVI) and to investigate the MR imaging features that can predict SVI. MATERIALS AND METHODS: The Institutional Review Board granted exempt status for this retrospective study, with waiver of informed consent; patient data were collected and handled in accordance with HIPAA regulations. Fifty-one men (age range, 44-73 years) with SVI and 303 men (age range, 40-76 years) without SVI who underwent endorectal MR imaging before radical prostatectomy between January 2000 and October 2004 were included in the study. Endorectal MR images were retrospectively and independently analyzed by two radiologists for SVI, tumor at prostate base, extracapsular extension, and other features considered indicative of SVI. Areas under the receiver operating characteristic curves (AUCs) were used to assess the accuracy of detecting SVI at endorectal MR imaging. A multiple logistic regression was used to explore the combinations of MR imaging features that might facilitate the detection of SVI. RESULTS: Readers 1 and 2 had an AUC of 0.93 and 0.81, respectively, for the detection of SVI. For both readers, the features that had the highest sensitivity and specificity were low signal intensity within the seminal vesicle and lack of preservation of seminal vesicle architecture. At multiple regression analysis, tumor at the prostate base that extended beyond the capsule and low signal intensity within a seminal vesicle that has lost its normal architecture were highly predictive of SVI. CONCLUSION: Endorectal MR imaging is accurate in demonstrating SVI prior to radical prostatectomy, and recognition of the most predictive features may facilitate the use of this modality.


Assuntos
Imageamento por Ressonância Magnética/métodos , Neoplasias da Próstata/patologia , Glândulas Seminais/patologia , Adulto , Idoso , Área Sob a Curva , Estudos Transversais , Humanos , Modelos Logísticos , Masculino , Pessoa de Meia-Idade , Invasividade Neoplásica , Estadiamento de Neoplasias , Reto , Estudos Retrospectivos , Estatísticas não Paramétricas
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