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1.
J Hosp Infect ; 146: 31-36, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38286238

RESUMO

BACKGROUND: Candida auris is an emerging multidrug-resistant yeast which can cause severe infection in hospitalized patients. Since its first detection in 2009, C. auris has spread globally. The control and elimination of this pathogen in a hospital setting is particularly challenging because of its ability to form biofilms, allowing for long-term patient colonization and persistence in the environment. Identification of C. auris from cultures is difficult due to the morphologic similarities to other yeasts, its slow growth, and the low culture sensitivity when using standard agars and temperatures. AIM: We have developed a screening protocol for C. auris colonization using an in-house-developed polymerase chain reaction (PCR), combined with confirmatory culture in optimized conditions. METHODS: C. auris-specific primers and probe were developed, targeting the internal transcribed spacer (ITS) region, and specificity was confirmed in silico using the BLAST tool. The PCR was validated using a panel of 12 C. auris isolates and 103 isolates from 22 other Candida species and was shown to be 100% accurate. The limit of detection of the assay was determined at approximately four cells per PCR. FINDINGS: C. auris screening was introduced on February 15th, 2023, and was used for patients who had been admitted to a healthcare facility abroad in the two months prior to admission to our hospital. The screening protocol included swabs from nose, throat, rectum, axilla, and groin. In the first eight months, 199 patients were screened and seven were found positive (4%). CONCLUSION: Our proposed screening protocol may contribute to control C. auris in hospitals.


Assuntos
Candidíase , Humanos , Candidíase/diagnóstico , Candida auris , Candida/genética , Leveduras , Antifúngicos , Testes de Sensibilidade Microbiana
2.
Intern Med J ; 2024 Jan 22.
Artigo em Inglês | MEDLINE | ID: mdl-38247402

RESUMO

BACKGROUND: Endobronchial valve (EBV) insertion for lung volume reduction is a management option for patients with severe emphysema. One-way valves cause lobar deflation and improve lung function, exercise capacity and quality of life. AIMS: To retrospectively analyse and compare the outcomes of the first 57 patients treated with EBVs between 2015 and 2021 at the Royal Adelaide Hospital to international standards. METHODS: Clinical outcomes of forced expiratory volume in 1 s (FEV1), residual volume (RV), treated lobe volume reduction (TLVR) and 6-min walk distance (6MWD) at 3, 6 and 12 months after valve insertion were reviewed against established minimally clinically important differences (MCIDs). Complications and subjective breathlessness measured by Borg scores were also reviewed. RESULTS: Fifty-seven patients were included. At 12 months, 77.2% achieved TLVR. FEV1 improved by 170 mL (95% confidence interval (CI): 100-250, P < 0.001), 80 mL (95% CI: 10-150, P = 0.019) and 40 mL (95% CI: -60 to 130, P 0.66) at 3, 6 and 12 months respectively. RV improved by -610 mL (95% CI: -330 to -900, P < 0.0001) at 3 months, -640 mL (95% CI: -360 to -920, P < 0.0001) at 6 months and -360 mL (95% CI: -60 to -680, P = 0.017) at 12 months. 6MWD improved by 57.34 m (95% CI: 36.23-78.45, P < 0.0001) and 44.93 m (95% CI: 7.19-82.67, P = 0.02) at 3 and 6 months. Borg score improved by -0.53 (95% CI: 0.11 to -1.2, P = 0.11) and -0.49 (95% CI: 0.17 to -1.15, P = 0.16) at 3 and 6 months. Complication rates aligned with international standards with mucous/infection (26.3%) and pneumothorax (17.5%) as the most common. Subgroup analysis signalled improved outcomes in patients with heterogeneous emphysema. CONCLUSION: Our study represents the first publicly funded Australian analysis of EBVs. The results align with international prospective trials demonstrating improved lung function and exercise capacity. Australians with severe emphysema and gas trapping should be referred to a multidisciplinary centre for consideration of EBVs.

3.
Malays J Pathol ; 45(2): 275-283, 2023 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-37658537

RESUMO

Thyroid carcinoma is uncommon. Papillary thyroid carcinoma (PTC) represents the majority of differentiated thyroid carcinoma and is a recognised complication of prior exposure to ionizing radiation. Even more uncommon is the synchronous occurrence of PTC with Hodgkin lymphoma (HL) as multiple primary malignancies. We report a 33-year-old mother of three who developed asymptomatic thyroid nodule for four years, and neck swelling for the recent ten months. She denied constitutional symptoms or B symptoms, and thyroid profiles were normal. Initially, metastatic thyroid cancer was suspected based on ultrasound scan findings of enlarged left thyroid gland and enlarged supraclavicular lymph nodes (LN). However, fine needle aspiration examinations of the thyroid nodule were inconclusive, and the supraclavicular LN was suspicious of HL. Computerised tomography scan detected a large mass at the thyroid glands and lymphadenopathies in the mediastinal, hilar, subcarinal and axilla with dimensions up to 6 cm. Left hemi-thyroidectomy with left supraclavicular LN biopsy revealed PTC in the left thyroid lobe measuring 38 x 25 x 18 mm, and the left supraclavicular LN was not definitive of HL. Completion thyroidectomy on the right side, bilateral central neck dissection and excision biopsy of the right supraclavicular LN revealed the presence of HL in the right supraclavicular LN, and both HL and metastatic PTC in right central LN. After multidisciplinary discussions, the patient received chemotherapy at four weeks postoperatively and achieved complete remission. This report highlights the importance of patient-centered approach and multidisciplinary consensus within lack of established guidelines, given rarity of the case.


Assuntos
Doença de Hodgkin , Neoplasias da Glândula Tireoide , Nódulo da Glândula Tireoide , Feminino , Humanos , Adulto , Câncer Papilífero da Tireoide , Biópsia por Agulha Fina
4.
Sci Rep ; 11(1): 12769, 2021 06 17.
Artigo em Inglês | MEDLINE | ID: mdl-34140571

RESUMO

Reputed to be the driest desert in the world, the Atacama Desert in the Central Andes of Northern Chile is an extreme environment with high UV radiation, wide temperature variation, and minimum precipitation. Scarce lagoons associated with salt flats (salars) in this desert are the surface expression of shallow groundwater; these ponds serve as refugia for life and often host microbial communities associated with evaporitic mineral deposition. Results based on multidisciplinary field campaigns and associated laboratory examination of samples collected from the Puquios of the Salar de Llamara in the Atacama Desert during austral summer provide unprecedented detail regarding the spatial heterogeneity of physical, chemical, and biological characteristics of these salar environments. Four main lagoons ('Puquios') and more than 400 smaller ponds occur within an area less than 5 km2, and are characterized by high variability in electrical conductivity, benthic and planktonic biota, microbiota, lagoon bottom type, and style of mineral deposition. Results suggest that electrical conductivity is a driving force of system heterogeneity. Such spatial heterogeneity within the Puquios is likely to be expanded with temporal observations incorporating expected seasonal changes in electrical conductivity. The complexity of these Andean ecosystems may be key to their ability to persist in extreme environments at the edge of habitability.

5.
Support Care Cancer ; 28(8): 3801-3812, 2020 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-31832822

RESUMO

PURPOSE: To compare febrile neutropenia (FN) incidence and hospitalization among breast cancer patients on docetaxel with no granulocyte colony-stimulating factors (GCSF) primary prophylaxis (PP), 4/5-day PP, or 7-day PP. METHODS: We identified 3916 breast cancer patients using docetaxel-cyclophosphamide (TC), doxorubicin-cyclophosphamide then docetaxel (AC-T), fluorouracil-epirubicin-cyclophosphamide then docetaxel (FEC-T), docetaxel-carboplatin-trastuzumab (TJH), or docetaxel-doxorubicin-cyclophosphamide (TAC) from a hospital pharmacy dispensing database in Hong Kong between 2014 and 2016. Patients were offered GCSF within 5 days since administering docetaxel. Outcomes included FN incidence, time to first hospitalization, hospitalization rate, and duration. RESULTS: In TC regimen, FN incidence (with odds ratio, OR) of patients with no PP, 4/5-day PP, and 7-day PP was 21.69%, 7.95% (OR 0.31, p < 0.001), and 5.33% (OR 0.20, p < 0.001), respectively. In TJH regimen, FN incidence of patients with no PP, 4/5-day PP, and 7-day PP was 38.26%, 8.33% (OR 0.15, p < 0.001), and 8.57% (OR 0.15, p < 0.001), respectively. FN incidence of patients on AC-T regimen with no PP and 4/5-day PP was 20.93% and 6.84%, respectively (OR 0.28, p = 0.005); with FEC-T regimen, the incidence was 9.91% and 4.77%, respectively (OR 0.46, p = 0.035). Only 3.27% FN cases were not hospitalized. Mean (±standard deviation, SD) time to first hospitalization was 8.21 ± 2.44 days. Mean (±SD) duration of hospitalization for patients with no PP, 4/5-day PP, and 7-day PP was 4.66 ± 2.60, 4.37 ± 2.85, and 5.12 ± 2.97 days, respectively. CONCLUSION: GCSF prophylaxis in breast cancer patients on docetaxel could reduce FN incidence and hospitalization. 4/5-day PP demonstrated similar efficacy to 7-day PP with superior saving benefits on healthcare expenditure.


Assuntos
Antineoplásicos/efeitos adversos , Neoplasias da Mama/complicações , Docetaxel/efeitos adversos , Neutropenia Febril/etiologia , Fator Estimulador de Colônias de Granulócitos/uso terapêutico , Neoplasias da Mama/tratamento farmacológico , Feminino , Hospitalização , Humanos , Pessoa de Meia-Idade , Estudos Retrospectivos
6.
East Asian Arch Psychiatry ; 29(3): 75-80, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31566182

RESUMO

OBJECTIVE: To review the first 8-month outcome of the Common Mental Disorder Clinic model in Hong Kong in terms of patient exit status and improvement in depressive and anxiety symptoms. METHODS: During the first appointment, patients were interviewed by a multidisciplinary team comprising a psychiatrist, a psychiatric nurse, and an occupational therapist. A multidisciplinary case conference was conducted to discuss clinical observations, diagnosis, issues of concern, and the optimal individualised treatment plan. Low-intensity interventions by nurses and/or occupational therapists were provided, as were optional, time-limited, protocol-based interventions by clinical psychologists for those with mild to moderate depressive and anxiety symptoms. Pharmacological intervention may be used when indicated. Upon completion of the treatment plan, patients were reassessed by the treating psychiatrist. Discharge options included discharge without psychiatric follow-up, step-up to psychiatric outpatient clinics, and step-down services. The self-administered Patient Health Questionnaire-9 (PHQ-9) and Generalised Anxiety Disorder 7-item scale (GAD-7) were used to assess the past 2 weeks' depressive and anxiety symptoms, respectively, at baseline and at each session. RESULTS: From July 2015 to February 2016, 1325 Chinese patients received the new service. Of them, 170 men and 363 women (mean age, 52.6 years) completed the treatment plan. After treatment, their mean PHQ-9 score decreased from 11.06 to 7.55 (p < 0.001), and the mean GAD-7 score decreased from 9.94 to 6.54 (p < 0.001). After treatment, 42.4% and 48.2% of the patients were within the normal range of PHQ-9 and GAD-7 scores, respectively, compared with 16.9% and 20.8% before treatment. The mean time to implementation of the individualised treatment plan was 82.33 days. Of the patients, 54.4% were discharged without any need for medical or psychiatric follow-up; 28% were stepped up to psychiatric outpatient clinics; and 17.3% were stepped down. The predictors of exit status were whether psychiatric medication was prescribed during initial intake (p = 0.011), whether psychiatric medication was prescribed at last follow-up (p < 0.001), the service period (p = 0.010), and the GAD-7 final score (p = 0.005). CONCLUSIONS: The first 8-month outcome of the new service model was encouraging, with shortened waiting time, reduced severity of symptoms, and better exit status (high recovery and step-down rates).


Assuntos
Avaliação de Resultados em Cuidados de Saúde , Equipe de Assistência ao Paciente , Ansiedade/terapia , Povo Asiático , Depressão/terapia , Feminino , Hong Kong , Humanos , Masculino , Pessoa de Meia-Idade , Psicoterapia , Estudos Retrospectivos , Fatores de Tempo
7.
Ann Oncol ; 29(6): 1417-1422, 2018 06 01.
Artigo em Inglês | MEDLINE | ID: mdl-29659668

RESUMO

Background: PD-L1 immunohistochemistry (IHC) testing is usually carried out on tissue blocks from core needle biopsy or surgical resections. In this study, we assessed the feasibility of using cytology cell blocks for PD-L1 IHC assay. Methods: A total of 1419 consecutive cases of non-small-cell lung cancer (NSCLC), including 371 cytology cell blocks, 809 small biopsies, and 239 surgical specimens, were included in the study. The cytology cell blocks were prepared with formalin only, methanol/alcohol only or both. PD-L1 expression was examined by staining with Dako PD-L1 IHC 22C3 pharmDx kit. A Tumor Proportion Score (TPS) was categorized as <1%, 1%-49% and ≥50% tumor cells. A total of 100 viable tumor cells were required for adequacy. Results: Of the cytology cell blocks, 92% of the specimens had an adequate number of tumor cells, not significantly different from small biopsies. The rate of TPS ≥50% differed between sample types and was observed in 42% of cytology cell blocks versus 36% of small biopsies (P = 0.04), and 29% of surgical resections (P = 0.001). The fixative methods did not affect the immunostaining, with overall PD-L1 high expression (TPS ≥50%) rates of 42% in formalin-fixed specimens versus 40% in specimens with combined fixation by methanol/alcohol and formalin (NS). The PD-L1 high expression rate was not associated with EGFR, ALK or KRAS molecular alterations. Higher stage (IV) was associated with higher PD-L1 TPS (P= 0.001). Conclusion: Our results show that when the TPS ≥50% is used as the end point, PD-L1 IHC performs well with cytology cell blocks. Cell blocks should be considered as a valuable resource for PD-L1 testing in advanced NSCLC. The clinical significance of higher PD-L1 IHC scores in cytology specimens needs to be evaluated prospectively.


Assuntos
Adenocarcinoma/diagnóstico , Carcinoma Pulmonar de Células não Pequenas/diagnóstico , Carcinoma de Células Escamosas/diagnóstico , Citodiagnóstico/métodos , Imuno-Histoquímica/métodos , Neoplasias Pulmonares/diagnóstico , Adenocarcinoma/cirurgia , Biópsia , Carcinoma Pulmonar de Células não Pequenas/cirurgia , Carcinoma de Células Escamosas/cirurgia , Humanos , Neoplasias Pulmonares/cirurgia , Prognóstico
9.
J Clin Pharm Ther ; 42(1): 111-114, 2017 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-27790727

RESUMO

WHAT IS KNOWN AND OBJECTIVE: Human herpesvirus-8 (HHV-8)-positive, HIV-negative multicentric Castleman's disease is a rare lymphoproliferative disorder with no standardized treatment. Concurrent Kaposi's sarcoma, another HHV-8-related disease, is uncommon in HIV-negative patients. The role of antiviral therapy and rituximab in HIV-negative patients is not well established. CASE DESCRIPTION: We report a case of a 5-year, durable remission of HHV-8-positive, HIV-negative comorbid multicentric Castleman's disease and Kaposi's sarcoma treated with long-term valganciclovir, following initial rituximab and liposomal doxorubicin. WHAT IS NEW AND CONCLUSION: Currently, there is no defined role for antiviral therapy in the treatment of HIV-negative HHV-8-positive multicentric Castleman's disease and Kaposi's sarcoma. Ganciclovir followed by indefinite, continuous valganciclovir is thought to have contributed significantly to the durable response in this case.


Assuntos
Antineoplásicos/uso terapêutico , Hiperplasia do Linfonodo Gigante/tratamento farmacológico , Doxorrubicina/análogos & derivados , Ganciclovir/análogos & derivados , Rituximab/uso terapêutico , Sarcoma de Kaposi/tratamento farmacológico , Antivirais/uso terapêutico , Hiperplasia do Linfonodo Gigante/virologia , Doxorrubicina/uso terapêutico , Ganciclovir/uso terapêutico , Infecções por HIV/tratamento farmacológico , Infecções por Herpesviridae/tratamento farmacológico , Humanos , Masculino , Pessoa de Meia-Idade , Polietilenoglicóis/uso terapêutico , Sarcoma de Kaposi/virologia , Valganciclovir
10.
Diagn Microbiol Infect Dis ; 87(3): 247-252, 2017 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-28007314

RESUMO

The AsperGenius® assay detects several Aspergillus species and the A. fumigatus Cyp51A mutations TR34/L98H/T289A/Y121F that are associated with azole resistance. We evaluated its contribution in identifying A. lentulus and A. felis, 2 rare but intrinsically azole-resistant sibling species within the Aspergillus section Fumigati. Identification of these species with conventional culture techniques is difficult and time-consuming. The assay was tested on (i) 2 A. lentulus and A. felis strains obtained from biopsy proven invasive aspergillosis and (ii) control A. fumigatus (n=3), A. lentulus (n=6) and A. felis species complex (n=12) strains. The AsperGenius® resistance PCR did not detect the TR34 target in A. lentulus and A. felis in contrast to A. fumigatus. Melting peaks for L98H and Y121F markers differed and those of the Y121F marker were particularly suitable to discriminate the 3 species. In conclusion, the assay can be used to rapidly discriminate A. fumigatus, A. lentulus and A. felis.


Assuntos
Antifúngicos/farmacologia , Aspergilose/diagnóstico , Aspergilose/tratamento farmacológico , Aspergillus fumigatus/classificação , Aspergillus fumigatus/efeitos dos fármacos , Azóis/uso terapêutico , Sistema Enzimático do Citocromo P-450/genética , Proteínas Fúngicas/genética , Idoso , Aspergilose/microbiologia , Aspergillus fumigatus/genética , Farmacorresistência Fúngica/genética , Humanos , Masculino , Testes de Sensibilidade Microbiana , Pessoa de Meia-Idade
11.
J Antimicrob Chemother ; 71(12): 3528-3535, 2016 12.
Artigo em Inglês | MEDLINE | ID: mdl-27530755

RESUMO

OBJECTIVES: In patients with invasive aspergillosis (IA), fungal cultures are mostly negative. Consequently, azole resistance often remains undetected. The AsperGenius® multiplex real-time PCR assay identifies clinically relevant Aspergillus species and four resistance-associated mutations (RAMs; TR34/L98H/T289A/Y121F) in the Cyp51A gene. This multicentre study evaluated the diagnostic performance of this assay on bronchoalveolar lavage (BAL) fluid and correlated the presence of RAMs with azole treatment failure and mortality. METHODS: Stored BAL samples from patients with haematological diseases with suspected IA were used. BAL samples that were galactomannan/culture positive were considered positive controls for the presence of Aspergillus. Azole treatment failure and 6 week mortality were compared in patients with and without RAMs that had received ≥5 days of voriconazole monotherapy. RESULTS: Two hundred and one patients each contributed one BAL sample, of which 88 were positive controls and 113 were negative controls. The optimal cycle threshold cut-off value for the Aspergillus species PCR was <38. With this cut-off, the PCR was positive in 74/88 positive controls. The sensitivity, specificity, positive predictive value and negative predictive value were 84%, 80%, 76% and 87%, respectively. 32/74 BAL samples were culture negative. Azole treatment failure was observed in 6/8 patients with a RAM compared with 12/45 patients without RAMs (P = 0.01). Six week mortality was 2.7 times higher in patients with RAMs (50.0% versus 18.6%; P = 0.07). CONCLUSIONS: The AsperGenius® assay had a good diagnostic performance on BAL and differentiated WT from Aspergillus fumigatus with RAMs, including in culture-negative BAL samples. Most importantly, detection of RAMs was associated with azole treatment failure.


Assuntos
Aspergillus fumigatus/genética , Líquido da Lavagem Broncoalveolar/microbiologia , Sistema Enzimático do Citocromo P-450/genética , Farmacorresistência Fúngica , Proteínas Fúngicas/genética , Aspergilose Pulmonar Invasiva/diagnóstico , Reação em Cadeia da Polimerase/métodos , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Antifúngicos/farmacologia , Antifúngicos/uso terapêutico , Aspergillus fumigatus/efeitos dos fármacos , Aspergillus fumigatus/isolamento & purificação , Azóis/farmacologia , Azóis/uso terapêutico , Feminino , Técnicas de Genotipagem/métodos , Doenças Hematológicas/complicações , Humanos , Aspergilose Pulmonar Invasiva/microbiologia , Masculino , Pessoa de Meia-Idade , Mutação , Estudos Retrospectivos , Análise de Sobrevida , Falha de Tratamento , Adulto Jovem
12.
J Clin Microbiol ; 54(2): 428-31, 2016 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-26659218

RESUMO

Testing cerebrospinal fluid (CSF) for the presence of galactomannan (GM) antigen may help in diagnosing cerebral aspergillosis (CA). However, the use of the CSF GM test as a diagnostic test has been little studied. We evaluated its diagnostic performance by comparing the CSF GM optical density indexes (ODI) at different cutoffs in patients with probable and proven CA to those in patients without CA. Patients from 2 tertiary referral hospitals with suspected CA between 2004 and 2014 and in whom CSF GM ODI had been determined were selected. European Organization for Research and Treatment of Cancer/Invasive Infectious Diseases Study Mycoses Group (EORTC/MSG) definitions of invasive aspergillosis and CA were used, but with the exclusion of the test to be validated (i.e., the CSF GM test) as a microbiological EORTC/MSG criterion. The study population consisted of 44 patients (4 with proven CA, 13 with probable CA, and 27 with no CA). Of the 17 patients with CA, 15 had a CSF GM ODI of ≥2.0. Of 27 patients without CA, 26 had a CSF GM ODI of <0.5 and 1 had a CSF GM ODI of 8.2. When a GM CSF ODI cutoff of 1.0 was used, the sensitivity, specificity, and positive and negative predictive values were 88.2%, 96.3%, 93.8%, and 92.9%, respectively. The same results were found when a CSF GM ODI cutoff of 0.5 or 2.0 was used. Testing GM in CSF has a high diagnostic performance for diagnosing CA and may be useful to diagnose or virtually rule out the infection without the need for a cerebral biopsy.


Assuntos
Antígenos de Fungos/líquido cefalorraquidiano , Antígenos de Fungos/imunologia , Mananas/líquido cefalorraquidiano , Mananas/imunologia , Neuroaspergilose/diagnóstico , Adolescente , Adulto , Idoso , Criança , Pré-Escolar , Feminino , Galactose/análogos & derivados , Humanos , Masculino , Pessoa de Meia-Idade , Reprodutibilidade dos Testes , Estudos Retrospectivos , Sensibilidade e Especificidade , Adulto Jovem
13.
Curr Oncol ; 22(5): 317-25, 2015 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-26628864

RESUMO

BACKGROUND: Sarcomas in adults can be associated with hereditary cancer syndromes characterized by early-onset predisposition to numerous types of cancer. Because of variability in familial presentation and the largely unexplained genetic basis of sarcomas, ascertainment of patients for whom a genetics evaluation is most indicated poses challenges. We assessed the utility of a Sarcoma Clinic Genetic Screening (scgs) questionnaire in facilitating that task. METHODS: Between 2008 and 2012, 169 patients (median age: 53 years; range: 17-88 years) completed a self-administered scgs questionnaire. A retrospective chart review was completed for all respondents, and descriptive statistics were reported. Probands were divided into two groups depending on whether they did or did not report a family history of Li-Fraumeni syndrome-type cancers. RESULTS: A family history of cancer (as far as 3rd-degree relatives) was reported in 113 of 163 sarcoma patients (69%). Eeles Li-Fraumeni-like (lfl) criteria were fulfilled in 46 probands (28%), Chompret lfl in 21 (13%), Birch lfl in 8 (5%), and classic Li-Fraumeni in none. In the 10 probands tested for TP53 mutations, 1 pathogenic mutation was found. Further investigation of selected families led to the discovery of germline mutations in MLH1, MSH2, and APC genes in 3 individuals. CONCLUSIONS: The scgs questionnaire was useful for ascertaining probands with sarcoma who could benefit from a genetic assessment. The tool allowed us to identify high-risk families fitting the criteria for lfl and, surprisingly, other hereditary cancer syndromes. Similar questionnaires could be used in other cancer-specific clinics to increase awareness of the genetic component of these cancers.

14.
Eur J Gynaecol Oncol ; 36(5): 560-3, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-26513883

RESUMO

OBJECTIVE: Ovarian cancer is the seventh most common cancer in women worldwide, with nearly a quarter of a million women diagnosed every year. The serum tumor markers cancer antigens CA 125, CA 19-9, and carcinoembryonic antigen (CEA) are potentially of clinical value for the diagnosis of ovarian cancer. A diagnostic tool that is noninvasive, simple to perform, and specific is needed to predict primary ovarian cancer. The purpose of this study was to evaluate the diagnostic sensivitity and specificity of vaginal-washing tumor markers CA 125, CA 19-9, and CEA for diagnosis of primary ovarian cancer. MATERIALS AND METHODS: In the current prospective study, 30 patients with advanced primary ovarian cancer and 30 patients with benign ovarian cysts were enrolled. The vaginal-washing fluid samples were obtained the day before surgery and were immediately centrifuged and stored at -80 degrees C until analysis. Measurements of CA 125, CA 19-9, and CEA were determined using fully-automated chemiluminescent microparticle immunoassays. RESULTS: The vaginal fluid concentrations of CA 125, CA 19-9, and CEA in patients with primary ovarian carcinoma were significantly higher (p < 0.001) compared to those in patients with benign adnexal masses (p < 0.001). In the ROC curve analysis, the optimal cut-off values for the detection of primary ovarian cancer were >295 for CA 125 (p < 0.001), > 101 for CA 19-9 (p < 0.001), and >135 for CEA (p < 0.001). CONCLUSION: Vaginal-washing tumor markers CA 125, CA 19-9, and CEA are simple, noninvasive, and reliable diagnostic tests for the detection of primary ovarian cancer.


Assuntos
Biomarcadores Tumorais/análise , Neoplasias Ovarianas/diagnóstico , Vagina/química , Antígeno Ca-125/análise , Antígeno CA-19-9/análise , Antígeno Carcinoembrionário/análise , Feminino , Humanos , Medições Luminescentes , Pessoa de Meia-Idade , Estudos Prospectivos
18.
Clin Genet ; 87(6): 536-42, 2015 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-25318681

RESUMO

We identified an MSH6 mutation (c.10C>T, p.Gln4*) causing Lynch syndrome (LS) in 11 French Canadian (FC) families from the Canadian province of Quebec. We aimed to investigate the molecular and clinical implications of this mutation among FC carriers and to assess its putative founder origin. We studied 11 probands and 27 family members. Additionally 6433 newborns, 187 colorectal cancer (CRC) cases, 381 endometrial cancer (EC) cases and 179 additional controls, all of them from Quebec, were used. Found in approximately 1 of 400 newborns, the mutation is one of the most common LS mutations described. We have found that this mutation confers a greater risk for EC than for CRC, both in the 11 studied families and in the unselected cases: EC [odds ratio (OR) = 7.5, p < 0.0001] and CRC (OR = 2.2, p = 0.46). Haplotype analyses showed that the mutation arose in a common ancestor, probably around 430-656 years ago, coinciding with the arrival of the first French settlers. Application of the results of this study could significantly improve the molecular testing and clinical management of LS families in Quebec.


Assuntos
Neoplasias Colorretais Hereditárias sem Polipose/epidemiologia , Neoplasias Colorretais Hereditárias sem Polipose/genética , Proteínas de Ligação a DNA/genética , Etnicidade/genética , Efeito Fundador , Mutação , Adolescente , Adulto , Idoso , Canadá/epidemiologia , Criança , Pré-Escolar , Neoplasias Colorretais Hereditárias sem Polipose/diagnóstico , Neoplasias do Endométrio/epidemiologia , Neoplasias do Endométrio/genética , Família , Feminino , Estudos de Associação Genética , Predisposição Genética para Doença , Haplótipos , Heterozigoto , Humanos , Perda de Heterozigosidade , Masculino , Pessoa de Meia-Idade , Quebeque , Risco , Adulto Jovem
19.
Eur J Gynaecol Oncol ; 36(6): 750-4, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-26775367

RESUMO

Gastrointestinal stromal tumors (GISTs) are rare tumors of the gastrointestinal (GI) tract that arise from primitive mesenchymal cells. Extragastrointestinal stromal tumors (EGISTs) are extremely rare tumors that show the features of GISTs outside the GI tract. Their most common locations are the omentum, mesentery, and retroperitoneum. The authors report herein a case of a 54-year-old woman with GIST in rectovaginal septum. The patient underwent low anterior resection of the rectum, total abdominal hysterectomy, bilateral salpingo-oophorectomy, and partial resection of the posterior vagina. She received adjuvant therapy with an oral tyrosine-kinase inhibitor. She is presently healthy without any evidence of recurrence at 26 months after surgery. For GISTs arising in the rectovaginal septum, it is difficult to ascertain whether the tumor origin site is the rectum, rectovaginal septum, or vagina. In other words, it is difficult to classify these tumors as GISTs or EGISTs. More consideration for the exact origin should be given to the GIST in the rectovaginal septum for the precise diagnosis (GIST or EGIST) and risk classification in future.


Assuntos
Tumores do Estroma Gastrointestinal/terapia , Neoplasias Retais/terapia , Neoplasias Vaginais/terapia , Feminino , Tumores do Estroma Gastrointestinal/diagnóstico , Humanos , Pessoa de Meia-Idade , Prognóstico , Neoplasias Retais/diagnóstico , Neoplasias Vaginais/diagnóstico
20.
Ann R Coll Surg Engl ; 96(1): 45-8, 2014 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-24417830

RESUMO

INTRODUCTION: The aim of this study was to determine the efficacy and complications of postoperative endoscopic retrograde cholangiopancreatography (ERCP) in confirming and treating choledocholithiasis found at intraoperative cholangiography during laparoscopic cholecystectomy. METHODS: Patients who had undergone ERCP following a cholecystectomy between 2008 and 2011 with an indication of intraoperative cholangiography findings consistent with choledocholithiasis were identified from a prospectively collected database of a single endoscopist. Deep biliary access rate, confirmation of choledocholithiasis, clearance rate of bile duct stones, delay between cholecystectomy and postoperative ERCP, and the complication rates following the procedure were analysed. RESULTS: The median age of the 41 patients (16 male, 25 female) was 42 years (range: 18-82 years). Sixteen surgeons performed the operations with a median delay of 6 days (range: 1-103 days) between cholecystectomy and postoperative ERCP. Common bile duct access was achieved in 100% of the patients, with ERCP taking a median time of 16 minutes (range: 6-40 minutes). Initial ERCP confirmed the presence of a stone in 30 patients (73%) and successful stone removal occurred in 28 of these 30 patients (93%) during the first ERCP and in the remaining 2 on a subsequent ERCP. Following ERCP, two patients (4.9%) experienced extended hospital stays for four and eight days owing to complications, including one patient (2.4%) with mild acute pancreatitis. CONCLUSIONS: This study demonstrates that postoperative ERCP is highly effective in both confirming and treating choledocholithiasis. However, there is a significant risk of short-term complications that must be taken into consideration when deciding management.


Assuntos
Colangiopancreatografia Retrógrada Endoscópica/métodos , Colecistectomia Laparoscópica/métodos , Coledocolitíase/cirurgia , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Colangiopancreatografia Retrógrada Endoscópica/efeitos adversos , Coledocolitíase/diagnóstico , Feminino , Humanos , Cuidados Intraoperatórios/métodos , Tempo de Internação , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Adulto Jovem
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