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1.
J Med Virol ; 96(9): e29881, 2024 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-39221498

RESUMO

While HC2 and GP5+/6+ PCR-EIA were pivotal in test validation of new HPV assays, they represent the first generation of comparator tests based upon technologies that are not in widespread use anymore. In the current guideline, criteria for second-generation comparator tests are presented that include more detailed resolution of HPV genotypes. Second-generation comparator tests should preferentially target only the 12 genotypes classified as carcinogenic (IARC-group I), and show consistent non-inferior sensitivity for CIN2+ and CIN3+ and specificity for ≤CIN1 compared to one of the first-generations comparators, in at least three validation studies using benchmarks of 0.95 for relative sensitivity and 0.98 for relative specificity. Validation should take into account used storage media and other sample handling procedures. Meta-analyses were conducted to identify the assays that fulfill these stringent criteria. Four tests fulfilled the new criteria: (1) RealTime High-Risk HPV Test (Abbott), (2) Cobas-4800 HPV test (Roche Molecular System), (3) Onclarity HPV Assay (BD Diagnostics), and (4) Anyplex II HPV HR Detection (Seegene), each evaluated in three to six studies. Whereas the four assays target 14 carcinogenic genotypes, the first two identify separately HPV16 and 18, the third assay identifies five types separately and the fourth identifies all the types separately.


Assuntos
Detecção Precoce de Câncer , Papillomaviridae , Infecções por Papillomavirus , Sensibilidade e Especificidade , Neoplasias do Colo do Útero , Humanos , Feminino , Infecções por Papillomavirus/diagnóstico , Infecções por Papillomavirus/virologia , Neoplasias do Colo do Útero/diagnóstico , Neoplasias do Colo do Útero/virologia , Detecção Precoce de Câncer/métodos , Papillomaviridae/genética , Papillomaviridae/classificação , Papillomaviridae/isolamento & purificação , Genótipo , Técnicas de Diagnóstico Molecular/métodos , Técnicas de Diagnóstico Molecular/normas , DNA Viral/genética , Testes de DNA para Papilomavírus Humano/métodos , Testes de DNA para Papilomavírus Humano/normas
2.
Int J Gynecol Cancer ; 34(9): 1382-1388, 2024 Sep 02.
Artigo em Inglês | MEDLINE | ID: mdl-38839421

RESUMO

OBJECTIVE: The aim of this study was to investigate the impact of adjuvant treatments, factors influencing recurrence, and survival data in patients with 2023 International Federation of Gynecology and Obstetrics (FIGO) stage IIB endometrial cancer. METHODS: A retrospective analysis was conducted on patients with endometrial cancer who underwent surgery between 2005 and 2022 at seven different centers in Turkey. Demographic, clinicopathological, and survival data were collected and analyzed. RESULTS: Among 7323 patients, 565 (7.7%) were classified as 2023 FIGO stage IIB based on pathological results. Of 565 patients, 214 were followed without receiving adjuvant treatment, while 335 (95.4%) received adjuvant radiotherapy, and 16 (4.6%) received radiotherapy and chemotherapy. The locoregional recurrence rate was higher in patients with a tumor size >4 cm (p=0.038) and myometrial invasion >50% (p=0.045). In patients with distant metastasis, the recurrence rate was lower in those with myometrial invasion <50% compared with myometrial invasion ≥50% (p=0.031). The impact of adjuvant treatment on endometrial cancer patients revealed no significant differences for both disease free survival (p=0.85) and overall survival (p=0.54). Subgroup analyses showed that in patients with deep myometrial invasion, adjuvant treatment was associated with a significant increase in overall survival (p=0.044), but there was no effect on disease-free survival (p=0.12). CONCLUSIONS: Patients with stage IIB endometrial cancer with myometrial invasion ≥50% were more likely to have locoregional and distant metastases. Adjuvant radiotherapy or chemoradiotherapy did not demonstrate an overall survival benefit in these patients.


Assuntos
Neoplasias do Endométrio , Estadiamento de Neoplasias , Humanos , Feminino , Neoplasias do Endométrio/patologia , Neoplasias do Endométrio/terapia , Neoplasias do Endométrio/mortalidade , Estudos Retrospectivos , Pessoa de Meia-Idade , Idoso , Turquia/epidemiologia , Radioterapia Adjuvante , Fatores de Risco , Adulto , Quimioterapia Adjuvante , Recidiva Local de Neoplasia/patologia , Recidiva Local de Neoplasia/terapia , Recidiva Local de Neoplasia/mortalidade , Idoso de 80 Anos ou mais
3.
Nutr Neurosci ; 27(1): 66-73, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-36594568

RESUMO

OBJECTIVE: The symptoms associated with Parkinson's disease may lead to reduced food consumption and in turn, malnutrition. It is therefore important to apply a reliable nutrition screening tool to evaluate the nutritional status of individuals with Parkinson's disease. This cross-sectional study aims to compare the Mini Nutritional Assessment (MNA) questionnaire and the Geriatric Nutrition Risk Index (GNRI) in the assessment of the nutritional status of individuals with Parkinson's disease, and to evaluate the usability of the GNRI in cases of Parkinson's disease. METHODS: The study was conducted with 89 individuals over the age of 60 who were diagnosed with Parkinson's disease. Study data were collected using a questionnaire form administered through face-to-face interviews, the MNA-Long Form (MNA-LF), and the GNRI was calculated. RESULTS: The mean GNRI scores were significantly lower in the participants with malnutrition (106.5 ± 19.4) than in the participants at risk of malnutrition (121.0 ± 10.3) and the participants with no malnutrition (125.3 ± 9.6) according to the MNA-LF (p < 0.001). Although there was a positive correlation between the MNA-LF and the GNRI scores, this correlation was not significant (p = 0.095). CONCLUSIONS: This is the first study to research the nutritional status of individuals with Parkinson's disease using the GNRI. The malnutrition rate detected by GNRI was found to be lower than MNA in Parkinson's patients receiving outpatient treatment. Similar studies are recommended to determine the usability of GNRI on inpatients.


Assuntos
Desnutrição , Doença de Parkinson , Humanos , Idoso , Estado Nutricional , Avaliação Nutricional , Doença de Parkinson/complicações , Estudos Transversais , Desnutrição/diagnóstico , Desnutrição/epidemiologia , Desnutrição/etiologia , Inquéritos e Questionários
4.
Arch Gynecol Obstet ; 310(1): 577-586, 2024 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-38836928

RESUMO

PURPOSE: Our prospective international survey evaluated the impact of the early phase of the COVID-19 pandemic on the management gynaecological malignancies from the multidisciplinary physicians' perspective with particular focus on clinical infrastructures and trial participation. METHODS: Our survey consisted of 53 COVID-related questions. It was sent to healthcare professionals in gynaecological oncology centres across Europe and Pan-Arabian region via the study groups and gynaecological societies from April 2020 to October 2020. All healthcare professionals treating gynaecological cancers were able to participate in our survey. RESULTS: A total of 255 answers were collected from 30 countries. The majority (73%) of participants were gynaecological oncologists from university hospitals (71%) with at least an Intensive Care Unit with cardiopulmonary support available at their institutions. Most institutions continued to perform elective surgeries only for oncological cases (98%). Patients had to wait on average 2 weeks longer for their surgery appointments compared to previous years (range 0-12 weeks). Most cases that were prioritised for surgical intervention across all gynaecological tumours were early-stage disease (74%), primary situation (61%) and good ECOG status (63%). The radicality of surgery did not change in the majority of cases (78%) across all tumour types. During the pandemic, only 38% of clinicians stated they would start a new clinical trial. Almost half of the participants stated the pandemic negatively impacted the financial structure and support for clinical trials. Approximately 20% of clinicians did not feel well-informed regarding clinical algorithm for COVID-19 patients throughout the pandemic. Thirty percent stated that they are currently having trouble in providing adequate medical care due to staff shortage. CONCLUSION: Despite well-established guidelines, pandemic clearly affected clinical research and patientcare. Our survey underlines the necessity for building robust emergency algorithms tailored to gynaecological oncology to minimise negative impact in crises and to preserve access to clinical trials.


Assuntos
COVID-19 , Ensaios Clínicos como Assunto , Neoplasias dos Genitais Femininos , Humanos , COVID-19/epidemiologia , Feminino , Neoplasias dos Genitais Femininos/terapia , Neoplasias dos Genitais Femininos/cirurgia , SARS-CoV-2 , Estudos Prospectivos , Acessibilidade aos Serviços de Saúde/estatística & dados numéricos , Inquéritos e Questionários , Oncologia , Ginecologia/estatística & dados numéricos , Assistência ao Paciente , Pandemias
5.
Int J Gynecol Cancer ; 33(5): 802-811, 2023 05 01.
Artigo em Inglês | MEDLINE | ID: mdl-36914171

RESUMO

The recommendation for cervical screening is that it should be based on human papillomavirus (HPV) molecular testing. For all screening programs, attention to quality assurance is required to fully realize the benefits. Internationally recognized quality assurance recommendations for HPV-based screening are needed that are ideally applicable for a variety of settings, including in low- and middle-income countries. We summarize the main points of quality assurance for HPV screening, with a focus on the selection, implementation, and use of an HPV screening test, quality assurance systems (including internal quality control and external quality assessment), and staff competence. While we recognize that it might not be possible to fulfill all points in all settings, an awareness of the issues is essential.


Assuntos
Infecções por Papillomavirus , Neoplasias do Colo do Útero , Feminino , Humanos , Neoplasias do Colo do Útero/diagnóstico , Papillomavirus Humano , Detecção Precoce de Câncer , Colo do Útero , Programas de Rastreamento , Papillomaviridae , Esfregaço Vaginal
6.
Int J Gynecol Cancer ; 33(4): 446-461, 2023 04 03.
Artigo em Inglês | MEDLINE | ID: mdl-36958755

RESUMO

The European Society of Gynaecological Oncology (ESGO), the International Society for the Study of Vulvovaginal Disease (ISSVD), the European College for the Study of Vulval Disease (ECSVD), and the European Federation for Colposcopy (EFC) developed consensus statements on pre-invasive vulvar lesions in order to improve the quality of care for patients with vaginal intraepithelial neoplasia (VaIN). The management of VaIN varies according to the grade of the lesion: VaIN 1 (low grade vaginal squamous intraepithelial lesions (SIL)) can be subjected to follow-up, while VaIN 2-3 (high-grade vaginal SIL) should be treated. Treatment needs individualization according to the patient's characteristics, disease extension and previous therapeutic procedures. Surgical excision is the mainstay of treatment and should be performed if invasion cannot be excluded. Total vaginectomy is used only in highly selected cases of extensive and persistent disease. Carbon dioxide (CO2) laser may be used as both an ablation method and an excisional one. Reported cure rates after laser excision and laser ablation are similar. Topical agents are useful for persistent, multifocal lesions or for patients who cannot undergo surgical treatment. Imiquimod was associated with the lowest recurrence rate, highest human papillomavirus (HPV) clearance, and can be considered the best topical approach. Trichloroacetic acid and 5-fluorouracil are historical options and should be discouraged. For VaIN after hysterectomy for cervical intraepithelial neoplasia (CIN) 3, laser vaporization and topical agents are not the best options, since they cannot reach epithelium buried in the vaginal scar. In these cases surgical options are preferable. Brachytherapy has a high overall success rate but due to late side effects should be reserved for poor surgical candidates, having multifocal disease, and with failed prior treatments. VaIN tends to recur and ensuring patient adherence to close follow-up visits is of the utmost importance. The first evaluation should be performed at 6 months with cytology and an HPV test during 2 years and annually thereafter. The implementation of vaccination against HPV infection is expected to contribute to the prevention of VaIN and thus cancer of the vagina. The effects of treatment can have an impact on quality of life and result in psychological and psychosexual issues which should be addressed. Patients with VaIN need clear and up-to-date information on a range of treatment options including risks and benefits, as well as the need for follow-up and the risk of recurrence.


Assuntos
Carcinoma in Situ , Infecções por Papillomavirus , Displasia do Colo do Útero , Neoplasias do Colo do Útero , Neoplasias Vaginais , Feminino , Gravidez , Humanos , Colposcopia , Qualidade de Vida , Neoplasias Vaginais/patologia , Imiquimode/uso terapêutico , Displasia do Colo do Útero/patologia , Carcinoma in Situ/patologia , Estudos Retrospectivos , Neoplasias do Colo do Útero/patologia
7.
Doc Ophthalmol ; 147(2): 89-98, 2023 10.
Artigo em Inglês | MEDLINE | ID: mdl-37515709

RESUMO

BACKGROUND: We investigated whether the photopic negative response (PhNR) in the electroretinogram (ERG) was affected in Parkinson's disease (PD) patients and whether it was associated with retinal changes on optical coherence tomography (OCT). METHODS: Thirty-two patients with PD and 31 age and sex-matched healthy controls from a single tertiary centre were included in the study. Hoehn and Yahr scale scores and the presence of REM sleep behaviour were recorded. PhNR, a-wave and b-wave responses in photopic ERG (red on blue background) and retinal layer thicknesses in OCT were obtained. RESULTS: The mean age was 61 ± 10.4 in the PD group (female/male: 18/14) and 60.9 ± 7 in the control group (female/male: 18/13). The amplitudes of the PhNR, a- and b-waves in the ERG were significantly decreased in the PD group, but the implicit times were not significantly different. BCVA was significantly correlated with Hoehn and Yahr scores (p < 0.001, r = - 0.596). There was a significant correlation between BCVA and a-wave amplitude (p = 0.047, r = - 0.251). On OCT analysis, the thickness of the nasal INL was increased, and the temporal and inferior OPL and temporal peripapillary RNFL were decreased in the PD group compared to healthy controls (p = 0.032, p = 0.002, p = 0.016 and p = 0.012, respectively). CONCLUSION: This study demonstrated reduced a-wave, b-wave and PhNR-wave amplitudes on ERG measurements in PD patients. These findings suggest that the whole ERG response, not just the PhNR, is attenuated in patient with PD, suggesting a possible involvement of the visual system in the disease.


Assuntos
Visão de Cores , Doença de Parkinson , Humanos , Masculino , Feminino , Pessoa de Meia-Idade , Idoso , Eletrorretinografia/métodos , Células Ganglionares da Retina/fisiologia , Doença de Parkinson/complicações , Doença de Parkinson/diagnóstico , Retina/fisiologia , Tomografia de Coerência Óptica
8.
J Nerv Ment Dis ; 211(12): 974-976, 2023 12 01.
Artigo em Inglês | MEDLINE | ID: mdl-38015188

RESUMO

ABSTRACT: Foreign accent syndrome (FAS) is an extremely rare disorder characterized by the appearance of speech changes that are perceived by the speaker and listeners as an acquired foreign accent. It still remains a poorly understood condition. Three main types of FAS have been reported in the medical literature as neurogenic, psychogenic, and mixed type. Psychogenic FAS includes all cases of FAS in which an organic cause has not been identified and a clear psychological factor has been identified after careful clinical, neurological, and neuroradiological examination. Although the COVID-19 epidemic, which has been ongoing since February 2020, primarily manifests itself with upper respiratory tract infection findings, it is seen that it also causes a wide range of neurological and psychiatric signs and symptoms. In this study, a 42-year-old female patient who started to have speech disorder after COVID-19 infection is presented in the light of clinical history, diagnosis, and differential diagnosis literature findings.


Assuntos
COVID-19 , Feminino , Humanos , Adulto , COVID-19/complicações , Diagnóstico Diferencial , Fala
9.
J Low Genit Tract Dis ; 27(2): 131-145, 2023 Apr 01.
Artigo em Inglês | MEDLINE | ID: mdl-36951985

RESUMO

ABSTRACT: The European Society of Gynaecological Oncology (ESGO), the International Society for the Study of Vulvovaginal Disease (ISSVD), the European College for the Study of Vulval Disease (ECSVD), and the European Federation for Colposcopy (EFC) developed consensus statements on pre-invasive vulvar lesions in order to improve the quality of care for patients with vaginal intraepithelial neoplasia (VaIN). The management of VaIN varies according to the grade of the lesion: VaIN 1 (low grade vaginal squamous intraepithelial lesions (SIL)) can be subjected to follow-up, while VaIN 2-3 (high-grade vaginal SIL) should be treated. Treatment needs individualization according to the patient's characteristics, disease extension and previous therapeutic procedures. Surgical excision is the mainstay of treatment and should be performed if invasion cannot be excluded. Total vaginectomy is used only in highly selected cases of extensive and persistent disease. Carbon dioxide (CO2) laser may be used as both an ablation method and an excisional one. Reported cure rates after laser excision and laser ablation are similar. Topical agents are useful for persistent, multifocal lesions or for patients who cannot undergo surgical treatment. Imiquimod was associated with the lowest recurrence rate, highest human papillomavirus (HPV) clearance, and can be considered the best topical approach. Trichloroacetic acid and 5-fluorouracil are historical options and should be discouraged. For VaIN after hysterectomy for cervical intraepithelial neoplasia (CIN) 3, laser vaporization and topical agents are not the best options, since they cannot reach epithelium buried in the vaginal scar. In these cases surgical options are preferable. Brachytherapy has a high overall success rate but due to late side effects should be reserved for poor surgical candidates, having multifocal disease, and with failed prior treatments. VaIN tends to recur and ensuring patient adherence to close follow-up visits is of the utmost importance. The first evaluation should be performed at 6 months with cytology and an HPV test during 2 years and annually thereafter. The implementation of vaccination against HPV infection is expected to contribute to the prevention of VaIN and thus cancer of the vagina. The effects of treatment can have an impact on quality of life and result in psychological and psychosexual issues which should be addressed. Patients with VaIN need clear and up-to-date information on a range of treatment options including risks and benefits, as well as the need for follow-up and the risk of recurrence.


Assuntos
Carcinoma in Situ , Infecções por Papillomavirus , Displasia do Colo do Útero , Neoplasias do Colo do Útero , Neoplasias Vaginais , Doenças da Vulva , Feminino , Humanos , Gravidez , Carcinoma in Situ/patologia , Colposcopia , Qualidade de Vida , Estudos Retrospectivos , Displasia do Colo do Útero/patologia , Displasia do Colo do Útero/terapia , Neoplasias do Colo do Útero/patologia , Neoplasias do Colo do Útero/terapia , Vagina/patologia , Neoplasias Vaginais/patologia , Neoplasias Vaginais/terapia , Doenças da Vulva/patologia
10.
Lancet Oncol ; 23(7): 950-960, 2022 07.
Artigo em Inglês | MEDLINE | ID: mdl-35709810

RESUMO

BACKGROUND: Cervical cancer screening tests that identify DNA of the main causal agent, high-risk human papillomavirus (HPV) types, are more protective than cervical cytology. We systematically reviewed the literature to assess whether tests targeting high-risk HPV (hrHPV) mRNA are as accurate and effective as HPV DNA-based screening tests. METHODS: We did a systematic review to assess the cross-sectional clinical accuracy to detect cervical intraepithelial neoplasia of grade 2 or worse (CIN2+) or 3 or worse (CIN3+) of hrHPV mRNA versus DNA testing in primary cervical cancer screening; the longitudinal clinical performance of cervical cancer screening using hrHPV mRNA versus DNA assays; and the clinical accuracy of hrHPV mRNA testing on self-collected versus clinician-collected samples. We identified relevant studies published before Aug 1, 2021, through a search of Medline (PubMed), Embase, and CENTRAL. Eligible studies had to contain comparative data addressing one of our three clinical questions. Aggregated data were extracted from selected reports or requested from study authors if necessary. QUADAS and ROBINS-1 tools were used to assess the quality of diagnostic test accuracy studies and cohort studies. To assess cross-sectional clinical accuracy of mRNA testing versus DNA testing and clinical accuracy of hrHPV mRNA testing on self-collected versus clinician collected samples, we applied meta-analytical methods for comparison of diagnostic tests. To assess the longitudinal clinical performance of cervical cancer screening using hrHPV mRNA versus DNA assays, we compared the longitudinal sensitivity of mRNA tests and validated DNA tests for CIN3+ and the relative detection of CIN3+ among women who screened negative for hrHPV mRNA or DNA (both used as measures of safety) at baseline and pooled estimates by years of follow-up. A random-effect model for pooling ratios of proportions or risks was used to summarise longitudinal performance. FINDINGS: For the hrHPV mRNA testing with APTIMA HPV Test (APTIMA), the cross-sectional accuracy could be compared with DNA assays on clinician-collected samples in eight studies; longitudinal performance was compared in four studies; and accuracy on self-samples was assessed in five studies. Few reports were retrieved for other mRNA assays, precluding their evaluation in meta-analyses. Compared with validated DNA assays, APTIMA was similarly sensitive (relative sensitivity 0·98 [95% CI 0·95-1·01]) and slightly more specific (1·03 [1·02-1·04]) for CIN2+. The relative sensitivity for CIN3+ was 0·98 (95% CI 0·95-1·01). The longitudinal relative sensitivity for CIN3+ of APTIMA compared with DNA assays assessed over 4-7 years ranged at the study level from 0·91 to 1·05 and in the pooled analysis between 0·95 and 0·98, depending on timepoint, with CIs including or close to unity. The detection rate ratios between 4 and 10 years after baseline negative mRNA versus negative DNA screening were imprecise and heterogeneous among studies, but summary ratios did not differ from unity. In self-collected samples, APTIMA was less sensitive for CIN2+ (relative cross-sectional sensitivity 0·84 [0·74-0·96]) but similarly specific (relative specificity 0·96 [0·91-1·01]) compared with clinician-collected samples. INTERPRETATION: HrHPV RNA testing with APTIMA had similar cross-sectional sensitivity for CIN2+ and CIN3+ and slightly higher specificity than DNA tests. Four studies with 4-7 years of follow-up showed heterogeneous safety outcomes. One study with up to 10 years of follow-up showed no differences in cumulative detection of CIN3+ after negative mRNA versus DNA screening. APTIMA could be accepted for primary cervical cancer screening on clinician-collected cervical samples at intervals of around 5 years. APTIMA is less sensitive on self-collected samples than clinician-collected samples. FUNDING: Horizon 2020 Framework Programme for Research and Innovation of the European Commission, through the RISCC Network, WHO, Haute Autorité de la Santé, European Society of Gynaecological Oncology, and the National Institute of Public Health and the Environment.


Assuntos
Infecções por Papillomavirus , Neoplasias do Colo do Útero , Estudos Transversais , Detecção Precoce de Câncer/métodos , Feminino , Humanos , Programas de Rastreamento , Papillomaviridae/genética , Infecções por Papillomavirus/diagnóstico , RNA Mensageiro/genética , Sensibilidade e Especificidade , Neoplasias do Colo do Útero/prevenção & controle , Esfregaço Vaginal/métodos
11.
Lancet Oncol ; 23(8): e385-e392, 2022 08.
Artigo em Inglês | MEDLINE | ID: mdl-35901834

RESUMO

Local cervical treatment for squamous intraepithelial lesion (SIL) or cervical intraepithelial neoplasia (CIN) removes or ablates a cone-shaped or dome-shaped part of the cervix that contains abnormal cells. This Series paper introduces the 2022 terminology for cone dimensions after local conservative treatment for SIL, CIN, or early invasive cervical cancer. The terminology was prepared by the Nomenclature Committee of the European Society of Gynaecologic Oncology, the European Federation for Colposcopy, the International Federation of Cervical Pathology and Colposcopy, and the European Society of Pathology. Cone length should be tailored to the type of transformation zone. Treatment of SIL or CIN is associated with an increased risk of preterm birth, which escalates with increasing cone length. There is a lack of agreement regarding terms used to report excised specimen dimensions both intraoperatively and in the pathology laboratory. Consensus is needed to make studies addressing effectiveness and safety of SIL or CIN treatment comparable, and to facilitate their use to improve accuracy of antenatal surveillance and management. This Series paper summarises the current terminology through a review of existing literature, describes new terminology as agreed by a group of experts from international societies in the field of cervical cancer prevention and treatment, and recommends use of the new terminology that will facilitate communication between clinicians and foster more specific treatment guidelines that balance obstetrical harm against therapeutic effectiveness.


Assuntos
Nascimento Prematuro , Displasia do Colo do Útero , Neoplasias do Colo do Útero , Colposcopia/métodos , Consenso , Tratamento Conservador , Feminino , Humanos , Recém-Nascido , Gravidez , Neoplasias do Colo do Útero/patologia , Displasia do Colo do Útero/patologia , Displasia do Colo do Útero/terapia
12.
Neurocase ; 28(1): 107-109, 2022 02.
Artigo em Inglês | MEDLINE | ID: mdl-35139754

RESUMO

Adult-onset neuronal ceroid lipofuscinoses (ANCLs, Kufs disease-KD) are rare, inherited, progressive, neurodegenerative, lysosomal storage diseases. Mutations in cathepsin F (CTSF) were linked to KD type B. Conversely, Frontotemporal dementia (FTD) is the second most common type of presenile dementia and Parkinsonism is a mostly common accompanying feature. Due to pronounced behavioral, cognitive, and motor features in the patients with KD type B, mutations in CTSF may resemble FTD-parkinsonism. Here, we present a case of KD type B with a novel homozygous frameshift pathogenic variant (p.Gly439Alafs*36) in the Cathepsin F (CTSF) gene presenting behavioral changes, cognitive disturbances and parkinsonism with a family history mimicking FTD-parkinsonism.


Assuntos
Demência Frontotemporal , Lipofuscinoses Ceroides Neuronais , Transtornos Parkinsonianos , Doença de Pick , Adulto , Catepsina F/genética , Demência Frontotemporal/diagnóstico , Demência Frontotemporal/genética , Demência Frontotemporal/patologia , Humanos , Mutação , Lipofuscinoses Ceroides Neuronais/genética , Lipofuscinoses Ceroides Neuronais/patologia , Transtornos Parkinsonianos/diagnóstico , Transtornos Parkinsonianos/genética
13.
Int J Gynecol Cancer ; 32(7): 830-845, 2022 07 04.
Artigo em Inglês | MEDLINE | ID: mdl-35728950

RESUMO

The European Society of Gynaecological Oncology (ESGO), the International Society for the Study of Vulvovaginal Disease (ISSVD), the European College for the Study of Vulval Disease (ECSVD), and the European Federation for Colposcopy (EFC) developed consensus statements on pre-invasive vulvar lesions in order to improve the quality of care for patients with vulvar squamous intraepithelial neoplasia, vulvar Paget disease in situ, and melanoma in situ. For differentiated vulvar intraepithelial neoplasia (dVIN), an excisional procedure must always be adopted. For vulvar high-grade squamous intraepithelial lesion (VHSIL), both excisional procedures and ablative ones can be used. The latter can be considered for anatomy and function preservation and must be preceded by several representative biopsies to exclude malignancy. Medical treatment (imiquimod or cidofovir) can be considered for VHSIL. Recent studies favor an approach of using imiquimod in vulvar Paget's disease. Surgery must take into consideration that the extension of the disease is usually wider than what is evident in the skin. A 2 cm margin is usually considered necessary. A wide local excision with 1 cm free surgical margins is recommended for melanoma in situ. Following treatment of pre-invasive vulvar lesions, women should be seen on a regular basis for careful clinical assessment, including biopsy of any suspicious area. Follow-up should be modulated according to the risk of recurrence (type of lesion, patient age and immunological conditions, other associated lower genital tract lesions).


Assuntos
Carcinoma in Situ , Neoplasias dos Genitais Femininos , Melanoma , Doença de Paget Extramamária , Neoplasias Vulvares , Carcinoma in Situ/patologia , Cidofovir , Colposcopia , Feminino , Humanos , Imiquimode , Doença de Paget Extramamária/patologia , Gravidez , Neoplasias Cutâneas , Neoplasias Vulvares/patologia , Melanoma Maligno Cutâneo
14.
J Low Genit Tract Dis ; 26(3): 229-244, 2022 Jul 01.
Artigo em Inglês | MEDLINE | ID: mdl-35763611

RESUMO

ABSTRACT: The European Society of Gynaecological Oncology (ESGO), the International Society for the Study of Vulvovaginal Disease (ISSVD), the European College for the Study of Vulval Disease (ECSVD), and the European Federation for Colposcopy (EFC) developed consensus statements on pre-invasive vulvar lesions in order to improve the quality of care for patients with vulvar squamous intraepithelial neoplasia, vulvar Paget disease in situ, and melanoma in situ. For differentiated vulvar intraepithelial neoplasia (dVIN), an excisional procedure must always be adopted. For vulvar high-grade squamous intraepithelial lesion (VHSIL), both excisional procedures and ablative ones can be used. The latter can be considered for anatomy and function preservation and must be preceded by several representative biopsies to exclude malignancy. Medical treatment (imiquimod or cidofovir) can be considered for VHSIL. Recent studies favor an approach of using imiquimod in vulvar Paget's disease. Surgery must take into consideration that the extension of the disease is usually wider than what is evident in the skin. A 2 cm margin is usually considered necessary. A wide local excision with 1 cm free surgical margins is recommended for melanoma in situ. Following treatment of pre-invasive vulvar lesions, women should be seen on a regular basis for careful clinical assessment, including biopsy of any suspicious area. Follow-up should be modulated according to the risk of recurrence (type of lesion, patient age and immunological conditions, other associated lower genital tract lesions).


Assuntos
Carcinoma in Situ , Melanoma , Doença de Paget Extramamária , Lesões Intraepiteliais Escamosas , Neoplasias Vulvares , Carcinoma in Situ/patologia , Colposcopia , Feminino , Humanos , Imiquimode/uso terapêutico , Gravidez , Neoplasias Cutâneas , Neoplasias Vulvares/diagnóstico , Neoplasias Vulvares/patologia , Neoplasias Vulvares/cirurgia , Melanoma Maligno Cutâneo
15.
J Obstet Gynaecol ; 42(5): 1286-1292, 2022 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-34704523

RESUMO

Our goal was to address the safety of major gynaecologic cancer surgery without routine preoperative COVID-19 testing in the COVID-19 era. The databases of seven gynaecologic cancer centres were searched in order to identify all consecutive gynaecologic cancer patients undergoing major surgery between March 11, 2020 and May 15, 2020 for this retrospective, case-control study. The case group consisted of patients with histopathologically confirmed gynaecologic cancers, and each case was matched with two counterparts who had undergone primary surgery before the COVID-19 pandemic. The case and the control groups were compared in terms of length of hospital stay, admission to the intensive care unit (ICU), intraoperative and postoperative complications.During the study period, 154 women with gynaecologic cancer undergoing major surgery were identified. Although the case group had more co-morbidities compared to the control group (103/154 vs. 178/308, respectively; p = .04), the median length of hospital stays, the rate of ICU admission, intraoperative complication rates and postoperative complication rates were similar in the two groups. Gynaecologic cancer surgery may be performed safely in the COVID-19 era with similar rates of ICU admission, intraoperative and postoperative complications compared to the patients operated before the COVID-19 pandemic.IMPACT STATEMENTWhat is already known on this subject? Many societies have announced their guidelines about the surgical management of gynaecologic cancer patients during the COVID-19 pandemic. However, most of them are not evidence-based and mostly on expert opinions.What do the results of this study add? The main findings of this retrospective, case-control study indicate that the short-term (30 day) outcomes of gynaecologic cancer patients undergoing major surgery in the COVID-19 era are similar to those who had been operated before the COVID-19 pandemic. The length of hospital stays, the rates of admission to the ICU, intraoperative and postoperative complications were comparable between women undergoing major gynaecologic cancer surgery in the COVID-19 era and the women who had been operated before the pandemic.What are the implications of these findings for clinical practice and/or further research? We can suggest that definitive surgery may be performed for gynaecologic cancer patients in the COVID-19 era if the resources permit and appropriate precautions such as social distancing, isolation and the use of personal protective equipment are taken.


Assuntos
COVID-19 , Neoplasias dos Genitais Femininos , COVID-19/epidemiologia , COVID-19/prevenção & controle , Teste para COVID-19 , Estudos de Casos e Controles , Feminino , Neoplasias dos Genitais Femininos/diagnóstico , Neoplasias dos Genitais Femininos/cirurgia , Humanos , Pandemias/prevenção & controle , Complicações Pós-Operatórias/epidemiologia , Complicações Pós-Operatórias/etiologia , Estudos Retrospectivos
16.
Int J Cancer ; 148(2): 277-284, 2021 01 15.
Artigo em Inglês | MEDLINE | ID: mdl-32638362

RESUMO

The age-standardised incidence of cervical cancer in Europe varies widely by country (between 3 and 25/100000 women-years) in 2018. Human papillomavirus (HPV) vaccine coverage is low in countries with the highest incidence and screening performance is heterogeneous among European countries. A broad group of delegates of scientific professional societies and cancer organisations endorse the principles of the WHO call to eliminate cervical cancer as a public health problem, also in Europe. All European nations should, by 2030, reach at least 90% HPV vaccine coverage among girls by the age of 15 years and also boys, if cost-effective; they should introduce organised population-based HPV-based screening and achieve 70% of screening coverage in the target age group, providing also HPV testing on self-samples for nonscreened or underscreened women; and to manage 90% of screen-positive women. To guide member states, a group of scientific professional societies and cancer organisations engage to assist in the rollout of a series of concerted evidence-based actions. European health authorities are requested to mandate a group of experts to develop the third edition of European Guidelines for Quality Assurance of Cervical Cancer prevention based on integrated HPV vaccination and screening and to monitor the progress towards the elimination goal. The occurrence of the COVID-19 pandemic, having interrupted prevention activities temporarily, should not deviate stakeholders from this ambition. In the immediate postepidemic phase, health professionals should focus on high-risk women and adhere to cost-effective policies including self-sampling.


Assuntos
Alphapapillomavirus/imunologia , Infecções por Papillomavirus/imunologia , Vacinas contra Papillomavirus/imunologia , Saúde Pública/métodos , Neoplasias do Colo do Útero/prevenção & controle , Adolescente , Adulto , Alphapapillomavirus/fisiologia , COVID-19/epidemiologia , COVID-19/prevenção & controle , COVID-19/virologia , Detecção Precoce de Câncer , Europa (Continente) , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Pandemias , Infecções por Papillomavirus/prevenção & controle , Infecções por Papillomavirus/virologia , Vacinas contra Papillomavirus/administração & dosagem , Saúde Pública/normas , Saúde Pública/estatística & dados numéricos , SARS-CoV-2/fisiologia , Neoplasias do Colo do Útero/diagnóstico , Neoplasias do Colo do Útero/imunologia , Vacinação/métodos , Organização Mundial da Saúde , Adulto Jovem
17.
Neurol Sci ; 42(11): 4751-4754, 2021 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-34279792

RESUMO

INTRODUCTION: Paroxysmal exercise-induced dyskinesia (PED) is characterized by repeated episodes of involuntary movement disorders that are typically caused by prolonged walking or running and mostly caused by SLC2A1 gene mutations. Phenotypes vary from focal dystonia, ataxia, tremor, and complex non-kinesigenic movements to other movement disorders in patients with SLC2A1 mutation. Also, SLC2A1 mutations carriers may present with also other phenotypes such as epileptic seizure and migraine. CASE REPORTS: We report five patients with various phenotypic spectrums of PED in a Turkish family. Whole exome sequencing revealed a likely pathogenic synonymous variant p.Ser324Ser (c.972G > A) in the SLC2A1 gene (ENST00000426263.3) and the variant segregated in all affected family members. Also, other than PED, the phenotypical spectrum of affected individuals in this family includes epilepsy, mental retardation, and weakness. CONCLUSIONS: We concluded that family members with the same SLC2A1 gene mutation may show very heterogenous phenotypes. Clinicians should be aware of wide variety of symptoms of the patients with PED. We also emphasized that even if a mutation in the coding sequence does not make an amino acid change, it may cause the disease.


Assuntos
Coreia , Epilepsia , Transtornos dos Movimentos , Transportador de Glucose Tipo 1 , Humanos , Mutação , Fenótipo
18.
J Obstet Gynaecol Res ; 47(3): 1134-1144, 2021 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-33426779

RESUMO

AIM: This study aimed to evaluate the prognostic significance of adequate lymph node dissection (LND) (≥10 pelvic lymph nodes (LNs) and ≥ 5 paraaortic LNs removed) in patients with International Federation of Gynecology and Obstetrics (FIGO) stage II endometrioid endometrial cancer (EEC). METHODS: A multicenter department database review was performed to identify patients who had been operated and diagnosed with stage II EEC at seven centers in Turkey retrospectively. Demographic, clinicopathological, and survival data were collected and analyzed. RESULTS: We identified 284 women with stage II EEC. There were 170 (59.9%) patients in the adequate lymph node dissection (LND) group and 114 (40.1%) in the inadequate LND group. The 5-year overall survival (OS) rate of the inadequate LND group was significantly lower than that of the adequate LND group (84.1% vs. 89.1%, respectively; p = 0.028). In multivariate analysis, presence of lymphovascular space invasion (LVSI) (hazard ratio [HR]: 2.39, 95% confidence interval [CI]: 1.23-4.63; p = 0.009), age ≥ 60 (HR: 3.30, 95% CI: 1.65-6.57; p = 0.001], and absence of adjuvant therapy (HR: 2.74, 95% CI: 1.40-5.35; p = 0.003) remained as independent risk factors for decreased 5-year disease-free survival (DFS). Inadequate LND (HR: 2.34, 95% CI: 1.18-4.63; p < 0.001), age ≥ 60 (HR: 2.67, 95% CI: 1.25-5.72; p = 0.011), and absence of adjuvant therapy (HR: 4.95, 95% CI: 2.28-10.73; p < 0.001) were independent prognostic factors for decreased 5-year OS in multivariate analysis. CONCLUSION: Adequate LND and adjuvant therapy were significant for the improvement of outcomes in FIGO stage II EEC patients. Furthermore, LVSI was associated with worse 5-year DFS rate in stage II EEC.


Assuntos
Carcinoma Endometrioide , Neoplasias do Endométrio , Obstetrícia , Carcinoma Endometrioide/patologia , Carcinoma Endometrioide/cirurgia , Neoplasias do Endométrio/patologia , Neoplasias do Endométrio/cirurgia , Feminino , Humanos , Excisão de Linfonodo , Estadiamento de Neoplasias , Prognóstico , Estudos Retrospectivos , Turquia
19.
Arch Gynecol Obstet ; 304(1): 125-130, 2021 07.
Artigo em Inglês | MEDLINE | ID: mdl-33433702

RESUMO

PURPOSE: In December 2019, the emerging of a novel coronavirus (COVID-19) has influenced the whole world. The current pandemic also triggers several psychological changes. Uncertainties and changes in health practices may cause anxiety, depression, and concerns on vulnerable populations such as pregnant. This study aims to survey the pregnant women to capture the psychological impact and perceptions during the pandemic. METHODS: A total of 297 pregnant women aged ≥ 18 years were enrolled in May 2020. We evaluated the hard-copy survey included questions about demographic and clinical information of patients, 95% confidence intervals of a COVID-19-related questionnaire in a Likert scale and 14-item Hospital Anxiety and Depression Scale (HADS). RESULTS: A total of 297 pregnant women were included in this study with a mean age of 27.64. Most patients (82.5%) had concerns about infecting their babies during delivery. The fear of infection of the fetus during delivery revealed elderly age and having anxiety as the unique significant risk factors. Mean HADS-A and HADS-D scores were 7.94 (± 4.03) and 7.23 (± 3.84), respectively. Multivariate analysis showed having anxiety was associated with a high HADS-D score and concern about the inability to reach obstetrician, and being in advanced age, having a high HADS-A score, and concern about the inability to reach obstetrician demonstrated significant effects on HADS-D score. CONCLUSION: We conclude that in future pandemics, communications and reassurance of the patients should be prioritized upon their routine ante-natal care to avoid increased levels of anxiety and even depression.


Assuntos
Ansiedade/epidemiologia , COVID-19/psicologia , Depressão/epidemiologia , Medo/psicologia , Pandemias , Gestantes/psicologia , Adulto , Idoso , Ansiedade/psicologia , Transtornos de Ansiedade , COVID-19/epidemiologia , Depressão/psicologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Gravidez , Fatores de Risco , SARS-CoV-2 , Estresse Psicológico , Inquéritos e Questionários
20.
Br J Cancer ; 123(4): 510-517, 2020 08.
Artigo em Inglês | MEDLINE | ID: mdl-32507855

RESUMO

This paper summarises the position of ESGO and EFC on cervical screening based on existing guidelines and opinions of a team of lead experts. HPV test is replacing cytology as this offers greater protection against cervical cancer and allows longer screening intervals. Only a dozen of HPV tests are considered as clinically validated for screening. The lower specificity of HPV test dictates the use of triage tests that can select women for colposcopy. Reflex cytology is currently the only well validated triage test; HPV genotyping and p16 immunostaining may be used in the future, although methylation assays and viral load also look promising. A summary of quality assurance benchmarks is provided, and the importance to audit the screening histories of women who developed cancer is noted as a key objective. HPV-based screening is more cost-effective than cytology or cotesting. HPV-based screening should continue in the post-vaccination era. Only a fraction of the female population is vaccinated, and this varies across countries. A major challenge will be to personalise screening frequency according to vaccination status. Still the most important factor for successful prevention by screening is high population coverage and organised screening. Screening with self-sampling to reach under-screened women is promising.


Assuntos
Colo do Útero/virologia , Papillomaviridae/isolamento & purificação , Infecções por Papillomavirus/diagnóstico , Neoplasias do Colo do Útero/virologia , Consenso , Inibidor p16 de Quinase Dependente de Ciclina/metabolismo , Detecção Precoce de Câncer , Feminino , Técnicas de Genotipagem , Humanos , Papillomaviridae/genética , Infecções por Papillomavirus/metabolismo , Vacinas contra Papillomavirus/uso terapêutico , Guias de Prática Clínica como Assunto , Gravidez , Sensibilidade e Especificidade , Vacinação/estatística & dados numéricos , Carga Viral
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