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1.
Cureus ; 16(3): e56183, 2024 Mar.
Article in English | MEDLINE | ID: mdl-38618429

ABSTRACT

Recurrent painful ophthalmoplegic neuropathy (RPON) is a rare headache syndrome, the diagnosis of which can be daunting to those who are not familiar with it. It presents characteristically with recurrent ocular motor weakness and ipsilateral head pain without an underlying etiology and often has unique imaging findings. Even after the successful diagnosis of this entity, there are no published management guidelines. Here, we present the case of a 31-year-old man whom we diagnosed with RPON following two episodes of unilateral headache with ophthalmoplegia over a three-month period and treated successfully with high-dose steroids on both occasions. We highlight the lack of prior migraine history and seeming antecedent viral infection as potential supporting evidence that this condition has a unique pathophysiology different from migraine. We also highlight his dramatic and reproducible response to steroids as additional evidence that steroids are good acute treatment options for this condition. Finally, as our patient lacked the expected cranial nerve imaging abnormalities on head MRI, we suggest that cranial nerve thickening and/or enhancement on MR imaging is not a sine qua non for this diagnosis, contrary to the opinion of some experts.

2.
PLoS One ; 17(12): e0279912, 2022.
Article in English | MEDLINE | ID: mdl-36584213

ABSTRACT

StarD7 belongs to START protein family involved in lipid traffic, metabolism, and signaling events. Its precursor, StarD7.I which is important for mitochondrial homeostasis, is processed to the StarD7.II isoform that lacks the mitochondrial targeting sequence and is mainly released to the cytosol. StarD7 knockdown interferes with cell migration by an unknown mechanism. Here, we demonstrate that StarD7 silencing decreased connexin 43 (Cx43), integrin ß1, and p-ERK1/2 expression in the non-tumoral migratory HTR-8/SVneo cells. StarD7-deficient cells exhibited Golgi disruption and reduced competence to reorient the microtubule-organizing center. The migratory capacity of StarD7-silenced cells was reestablished when Cx43 level was resettled, while p-ERK1/2 expression remained low. Importantly, ectopic expression of the StarD7.II isoform not only restored cell migration but also ERK1/2, Cx43, and integrin ß1 expression. Thus, StarD7 is implicated in cell migration through an ERK1/2/Cx43 dependent mechanism but independent of the StarD7.I function in the mitochondria.


Subject(s)
Carrier Proteins , Connexin 43 , Carrier Proteins/metabolism , Connexin 43/genetics , Connexin 43/metabolism , Integrin beta1/genetics , Integrin beta1/metabolism , MAP Kinase Signaling System , Cell Movement/genetics , Protein Isoforms/metabolism
3.
Horiz. sanitario (en linea) ; 21(3): 521-530, Sep.-Dec. 2022. tab, graf
Article in Spanish | LILACS-Express | LILACS | ID: biblio-1506364

ABSTRACT

Resumen Objetivo: Estimar si los pacientes odontológicos están dispuestos a pagar (DAP) más por sus citas sabiendo que la clínica donde asisten implementó medidas de bioseguridad para evitar el contagio del COVID-19. De igual manera, si dicho pago varía dependiendo del tipo de tratamiento odontológico, así como si el paciente presenta algún tipo de comorbilidad. Materiales y métodos: Desarrollo y aplicación de encuestas en línea a una muestra de 423 pacientes odontológicos en México con diferentes tratamientos y presencia de comorbilidad si estuvieran dispuestos a pagar por su atención ante la emergencia COVID por las medidas de bioseguridad utilizando un análisis estadístico de medias. La encuesta se aplicó en los meses de septiembre a noviembre de 2020. Resultados: Se estimó que aproximadamente el 32% cancelaría sus citas dentales por miedo a contraer COVID-19; sin embargo, casi un 45% estarían DAP un monto extra en la cita, si el consultorio o clínica implementa estrictas medidas de bioseguridad. Estos porcentajes, tanto de la cancelación de cita, como de la disponibilidad a pagar adicional, se incrementa si el paciente presenta alguna comorbilidad. Conclusiones: Los pacientes de la muestra están dispuestos a pagar un monto excedente por sus citas sabiendo que los consultorios implementaron medidas de bioseguridad, y más si son pacientes que presentan alguna comorbilidad. Así mismo, dichos consultorios podrían recibir algún apoyo del Gobierno para el bienestar de toda la sociedad.


Abstract Objective: Estimate whether dental patients are willing to pay (DAP) more for their appointments knowing that the clinic where they attend implemented biosecurity measures to prevent the spread of COVID-19. Similarly, if said payment varies depending on the type of dental treatment, as well as if the patient has some type of comorbidity. Materials and methods: Development and application of online surveys to a sample of 423 dental patients in Mexico with different treatments and presence of comorbidity if they were willing to pay for their care in the face of the COVID emergency for biosecurity measures using a statistical analysis of means . The survey was applied in the months of September to November 2020. Results: It was estimated that approximately 32% would cancel their dental appointments for fear of contracting COVID-19; however, almost 45% would be DAP an extra amount in the appointment, if the office or clinic implements strict biosecurity measures. These percentages, both for appointment cancellation and willingness to pay additional, are increased if the patient has any comorbidity. Conclusions: The patients in the sample are willing to pay an excess amount for their appointments knowing that the offices have implemented biosafety measures, and more so if they are patients with some comorbidity. Likewise, these clinics could receive some support from the Government for the well-being of the entire society.

4.
J Clin Exp Dent ; 14(10): e846-e853, 2022 Oct.
Article in English | MEDLINE | ID: mdl-36320676

ABSTRACT

Background: Saliva is a biological fluid essential for the maintenance of a proper oral health. Its absence predisposes to differences pathologies, including dental caries, fungal infections among many others, significantly affecting the oral health related quality of life (OHRQoL). There is a large variety of treatment alternatives available for dry mouth, which increases constantly. Objective: To identify new treatment alternatives for dry mouth. Material and Methods: We conducted a systematic search in PubMed/MEDLINE, Web of Science, Scopus and Ebsco. Articles published between January 2015 and January 2020 were retrieved and reviewed by two independent evaluators. Results: Nineteen studies met the inclusion criteria and were included for analysis. Local therapies were the most evaluated agents, followed by systemic and non-conventional treatments. Most local therapies showed certain utility for the management of dry mouth and the improvement of OHRQoL. These formulations were mainly based on natural agents, including malic acid, thyme honey, ginger, among others. Conclusions: Local agents are first line treatment alternatives for dry mouth sensation, with a reported efficiency that varies between studies, and with a low number of reported adverse side-effects. Nevertheless, care must be taken when interpreting these results, as is difficult to compare studies within each other due large heterogeneity in study design and outcomes being measured. Key words:Xerostomia, dry mouth, hyposalivation, saliva, mouth dryness.

5.
Placenta ; 127: 62-72, 2022 09.
Article in English | MEDLINE | ID: mdl-35973366

ABSTRACT

INTRODUCTION: Placental extravillous trophoblasts play a crucial role in the establishment of a healthy pregnancy. Reactive oxygen species (ROS) may contribute to their differentiation and function as mediators in signaling processes or might cause oxidative stress resulting in trophoblast dysfunction. The krüppel-like transcription factor 6 (KLF6) regulates many genes involved in essential cell processes where ROS are also involved. However, whether KLF6 regulates ROS levels has not been previously investigated. MATERIALS AND METHODS: KLF6 was silenced by siRNAs in HTR8-SV/neo cells, an extravillous trophoblast model. Total and mitochondrial ROS levels, as well as mitochondrial membrane potential and apoptosis were analyzed by flow cytometry. The expression of genes and proteins of interest were analyzed by qRT-PCR and Western blot, respectively. Cell response to oxidative stress, proliferation, viability, morphology, and migration were evaluated. RESULTS: KLF6 downregulation led to an increase in ROS and NOX4 mRNA levels, accompanied by reduced cell proliferation and increased p21 protein expression. Catalase activity, 2-Cys peroxiredoxin protein levels, Nrf2 cytoplasmic localization and hemoxygenase 1 expression, as well as mitochondrial membrane potential and cell apoptosis were not altered suggesting that ROS increase is not associated with cellular damage. Instead, KLF6 silencing induced cytoskeleton modifications and increased cell migration in a ROS-dependent manner. DISCUSSION: Present data reveal a novel role of KLF6 on ROS balance and signaling demonstrating that KLF6 downregulation induces an increase in ROS levels that contribute to extravillous trophoblast cell migration.


Subject(s)
Placenta , Trophoblasts , Down-Regulation , Female , Humans , Kruppel-Like Factor 6/metabolism , Placenta/metabolism , Pregnancy , Reactive Oxygen Species/metabolism , Trophoblasts/metabolism
6.
J Pers Med ; 12(6)2022 May 29.
Article in English | MEDLINE | ID: mdl-35743684

ABSTRACT

(1) Background: A complete tumor resection during primary cytoreductive surgery has been reported to be the most important and perhaps the only independent prognostic factor in advanced ovarian cancers. The goal of complete cytoreduction needs to be weighed against the potential morbidities and long-term survival outcomes. (2) Methods: in this retrospective analysis of a prospectively obtained database, 208 consecutive patients with advanced ovarian cancer who underwent a conventional primary cytoreductive surgery (150 patients) or TROMP technique (58 patients) were included. Progression-free and overall survival rates were calculated using Kaplan-Meier analysis as well as the 95% confidence interval of the hazard ratio between treatment groups. (3) Results: After a median follow-up phase of more than 3 years (range 1-72 months), there are no statistically significant differences between both groups in progression-free and overall survival rates. Albeit, the TROMP group included statistically significant more advanced-stage cases compared to the conventional surgery group. (4) Conclusions: the TROMP technique is a promising tool for successful primary cytoreductive surgery in a selected group of patients with high tumor burdens in order to achieve optimal surgical results and survival outcomes without introducing any additional risks or complications.

7.
FEBS Lett ; 596(13): 1700-1719, 2022 07.
Article in English | MEDLINE | ID: mdl-35490377

ABSTRACT

Trophoblast cell differentiation is of paramount importance for successful pregnancy. Krüppel-like factor 6 (KLF6), a transcription factor with diverse roles in cell physiology and tumor biology, is required for trophoblast differentiation through the syncytial pathway. Herein, we demonstrate that extravillous trophoblast (EVT) cell migration and mesenchymal phenotype are increased upon KLF6 downregulation or the expression of a deletion mutant lacking its transcriptional regulatory domain (KΔac). Raman spectroscopy revealed molecular modifications compatible with increased differentiation in cells stably expressing the KΔac mutant. Moreover, abnormally invasive placenta showed lower KLF6 immunostaining compared with the normal placenta. Thus, impaired KLF6 expression or function stimulates EVT migration and differentiation in vitro and may contribute to the physiopathology of the abnormally invasive placenta.


Subject(s)
Placenta , Trophoblasts , Cell Differentiation/genetics , Cell Movement/genetics , Female , Gene Expression Regulation , Humans , Kruppel-Like Factor 6/genetics , Kruppel-Like Factor 6/metabolism , Placenta/metabolism , Pregnancy , Trophoblasts/metabolism
8.
Cancers (Basel) ; 14(7)2022 Mar 26.
Article in English | MEDLINE | ID: mdl-35406468

ABSTRACT

(1) Background: plastic reconstruction in vulvar surgery can lead to a better treatment outcome than primary closure. This study aims to compare the preoperative parameters (co-morbidities and tumor size) and postoperative results (tumor free margins and wound healing) between the primary closure and reconstructive surgery after vulvar cancer surgery; (2) Methods: this is a retrospective analysis of prospectively collected data from 2009 to 2021 at a tertiary cancer institution; (3) Results: 177 patients were included in the final analysis (51 patients had primary closure PC and 126 had reconstructive surgery RS). About half (49%) of the PC patients had no co-morbidities (p = 0.043). The RS group had a 45 mm median maximal tumor diameter compared to the PC group's 23 mm (p = 0.013). More than 90% of RS and 80% of PC had tumor-free margins (p = 0.1). Both groups had anterior vulvar excision as the most common surgery (52.4% RS vs. 23.5% PC; p = 0.001). Both groups had identical rates of wound healing disorders. In a median follow-up of 39 months; recurrent disease was found in 23.5% of PC vs. 10.3% in RS (p = 0.012). In terms of overall survival there was no significant difference between the both groups; (4) Conclusions: reconstructive vulvar surgery enables enhanced complete resection rates of larger vulvar tumors with better anatomical restoration and a comparable wound recovery in comparison to primary closure. This results in a lower recurrence rate despite the increased tumor volume.

10.
Arch Gynecol Obstet ; 305(3): 671-681, 2022 03.
Article in English | MEDLINE | ID: mdl-34448946

ABSTRACT

AIM: This multicenter investigation was performed to evaluate the adjuvant treatment options, prognostic factors, and patterns of recurrence in patients with grade 3 endometrioid endometrial cancer (G3-EEC). MATERIALS AND METHODS: The medical reports of patients undergoing at least total hysterectomy and salpingo-oophorectomy for G3-EEC between 1996 and 2018 at 11 gynecological oncology centers were analyzed. Optimal surgery was defined as removal of all disease except for residual nodules with a maximum diameter ≤ 1 cm, as determined at completion of the primary operation. Adequate systematic lymphadenectomy was defined as the removal of at least 15 pelvic and at least 5 paraaortic LNs. RESULTS: The study population consists of 465 women with G3-EEC. The 5-year disease-free survival (DFS) and overall survival (OS) rates of the entire cohort are 50.3% and 57.6%, respectively. Adequate systematic lymphadenectomy was achieved in 429 (92.2%) patients. Optimal surgery was achieved in 135 (75.0%) patients in advanced stage. Inadequate lymphadenectomy (DFS; HR 3.4, 95% CI 3.0-5.6; P = 0.016-OS; HR 3.2, 95% CI 1.6-6.5; P = 0.019) was independent prognostic factors for 5-year DFS and OS. CONCLUSION: Inadequate lymphadenectomy and LVSI were independent prognostic factors for worse DFS and OS in women with stage I-II G3-EEC. Adequate lymphadenectomy and optimal surgery were independent prognostic factors for better DFS and OS in women with stage III-IV G3-EEC.


Subject(s)
Carcinoma, Endometrioid , Endometrial Neoplasms , Carcinoma, Endometrioid/surgery , Disease-Free Survival , Endometrial Neoplasms/surgery , Female , Humans , Lymph Node Excision , Neoplasm Staging , Prognosis , Retrospective Studies
11.
Placenta ; 117: 139-149, 2022 01.
Article in English | MEDLINE | ID: mdl-34894601

ABSTRACT

INTRODUCTION: Villous cytotrophoblast (vCTB) cells fuse to generate and maintain the syncytiotrophoblast layer required for placental development and function. Krüppel-like factor 6 (KLF6) is a ubiquitous transcription factor with an N-terminal acidic transactivation domain and a C-terminal zinc finger DNA-binding domain. KLF6 is highly expressed in placenta, and it is required for proper placental development. We have demonstrated that KLF6 is necessary for cell fusion in human primary vCTBs, and in the BeWo cell line. MATERIALS AND METHODS: Full length KLF6 or a mutant lacking its N-terminal domain were expressed in BeWo cells or in primary vCTB cells isolated from human term placentas. Cell fusion, gene and protein expression, and cell proliferation were analyzed. Moreover, Raman spectroscopy and atomic force microscopy (AFM) were used to identify biochemical, topography, and elasticity cellular modifications. RESULTS: The increase in KLF6, but not the expression of its deleted mutant, is sufficient to trigger cell fusion and to raise the expression of ß-hCG, syncytin-1, the chaperone protein 78 regulated by glucose (GRP78), the ATP Binding Cassette Subfamily G Member 2 (ABCG2), and Galectin-1 (Gal-1), all molecules involved in vCTB differentiation. Raman and AFM analysis revealed that KLF6 reduces NADH level and increases cell Young's modulus. KLF6-induced differentiation correlates with p21 upregulation and decreased cell proliferation. Remarkable, p21 silencing reduces cell fusion triggered by KLF6 and the KLF6 mutant impairs syncytialization and decreases syncytin-1 and ß-hCG expression. DISCUSSION: KLF6 induces syncytialization through a mechanism that involves its regulatory transcriptional domain in a p21-dependent manner.


Subject(s)
Cell Fusion , Kruppel-Like Factor 6/metabolism , Trophoblasts/metabolism , Cell Line, Tumor , Humans , Kruppel-Like Factor 6/chemistry , Protein Domains
12.
J Clin Med ; 10(21)2021 Oct 21.
Article in English | MEDLINE | ID: mdl-34768367

ABSTRACT

(1) Background: Sentinel lymph node staging (SLN) with indocyanine green (ICG) in cervical cancer is the standard of care in most national and international guidelines. However, the vast majority of relevant studies about the safety and feasibility of this method are conducted on minimally invasive surgery; (2) Methods: This study is a retrospective analysis of a retrospective collected database of 76 consecutive patients with cervical cancers, who were operated laparoscopically (50%), or laparotomy (50%). Sentinel nodes were defined as the ICG-positive pelvic nodes in the first and second echelons. False negative cases were defined as positive non-sentinel lymph nodes despite successful sentinel mapping or failed mapping bilaterally by per-patient assessment or unilaterally by pelvic sidewall assessment; (3) Results: Regardless of the approach (open or laparoscopic), the SLN technique achieved a total sensitivity, specificity, and negative predictive value (NPV) of 94.7%, 98.6%, and 94.7%, respectively in the entire sample. The bilateral detection rate was as high as 93.4% with identical results in both approaches. The sensitivity and NPV for SNL in open surgery was found to be similar to minimal access surgery; (4) Conclusions: ICG and SPY-PHI technique is a reliable tool to detect sentinel lymph nodes in cervical cancer during laparotomy.

13.
J Clin Apher ; 36(6): 815-822, 2021 Dec.
Article in English | MEDLINE | ID: mdl-34478581

ABSTRACT

BACKGROUND: Extracorporeal photopheresis (ECP) as a part of multimodality therapy, is one of the treatments for Sézary syndrome (SS) and advanced stage mycosis fungoides (MF). This study aims to describe cutaneous and peripheral blood responses of patients with MF and SS who received multimodality therapy. METHODS: In this cross-sectional retrospective study, patients with MF or SS who received ECP treatment in combination with at least one additional systemic treatment between 2011 and 2018 were included. ECP consisted of a two-session cycle every 2 to 4 weeks. Cutaneous and blood responses were evaluated with updated criteria. RESULTS: Twenty-eight patients (11 (39%) with MF and 17 (51%) with SS) were included. Their median age at diagnosis was 63 (57-67) years. The median number of treatments before ECP was 2 (1-3). Seven out of 11 patients with MF (63%) underwent an assessment of cutaneous response. Five patients (70%) presented a partial response; 1 (15%), stable disease, and 1 (15%) progressive disease. Thirteen of the 17 patients with SS (76%) underwent evaluation. One patient (8%) presented a complete cutaneous response; 6 (46%), a partial response; 5 (38%), stable disease; and 1 (8%), progressive disease. None of them relapsed during the study period in both groups. No ECP-related adverse effects occurred during the study. CONCLUSION: Most patients with SS and MF who underwent multimodality therapy with ECP had favorable cutaneous and blood response. It is safe to combine ECP with other treatments. Studies with large numbers of patients are necessary to assess the effects of ECP on patient survival.


Subject(s)
Lymphoma, T-Cell, Cutaneous/therapy , Photopheresis/methods , Aged , Argentina , Combined Modality Therapy , Cross-Sectional Studies , Female , Humans , Male , Middle Aged , Mycosis Fungoides/therapy , Retrospective Studies , Sezary Syndrome/therapy , Skin Neoplasms/therapy , Treatment Outcome
14.
Biochim Biophys Acta Mol Cell Biol Lipids ; 1866(12): 159029, 2021 12.
Article in English | MEDLINE | ID: mdl-34416390

ABSTRACT

Mitochondria are dynamic organelles crucial for cell function and survival implicated in oxidative energy production whose central functions are tightly controlled by lipids. StarD7 is a lipid transport protein involved in the phosphatidylcholine (PC) delivery to mitochondria. Previous studies have shown that StarD7 knockdown induces alterations in mitochondria and endoplasmic reticulum (ER) with a reduction in PC content, however whether StarD7 modulates mitochondrial dynamics remains unexplored. Here, we generated HTR-8/SVneo stable cells expressing the precursor StarD7.I and the mature processed StarD7.II isoforms. We demonstrated that StarD7.I overexpression altered mitochondrial morphology increasing its fragmentation, whereas no changes were observed in StarD7.II-overexpressing cells compared to the control (Ct) stable cells. StarD7.I (D7.I) stable cells were able to transport higher fluorescent PC analog to mitochondria than Ct cells, yield mitochondrial fusions, maintained the membrane potential, and produced lower levels of reactive oxygen species (ROS). Additionally, the expression of Dynamin Related Protein 1 (Drp1) and Mitofusin (Mfn2) proteins were increased, whereas the amount of Mitofusin 1 (Mfn1) decreased. Moreover, transfections with plasmids encoding Drp1-K38A, Drp1-S637D or Drp1-S637A mutants indicated that mitochondrial fragmentation in D7.I cells occurs in a fission-dependent manner via Drp1. In contrast, StarD7 silencing decreased Mfn1 and Mfn2 fusion proteins without modification of Drp1 protein level. These cells increased ROS levels and presented donut-shape mitochondria, indicative of metabolic stress. Altogether our findings provide novel evidence indicating that alterations in StarD7.I expression produce significant changes in mitochondrial morphology and dynamics.


Subject(s)
Carrier Proteins/genetics , Dynamins/genetics , GTP Phosphohydrolases/genetics , Mitochondria/genetics , Mitochondrial Membrane Transport Proteins/genetics , Mitochondrial Proteins/genetics , Gene Expression Regulation , Humans , Lipid Metabolism/genetics , Lipids/genetics , Mitochondria/metabolism , Mitochondrial Dynamics/genetics , Phosphatidylcholines/metabolism , Reactive Oxygen Species/metabolism
15.
CES med ; 35(2): 126-134, mayo-ago. 2021. graf
Article in Spanish | LILACS-Express | LILACS | ID: biblio-1364608

ABSTRACT

Resumen Las infecciones por Staphylococcus aureus meticilino-resistente adquiridas en la comunidad son cada vez más frecuentes y se deben sospechar en casos de piodermitis u otras infecciones necrotizantes, tanto en niños como en adultos sin factores de riesgo clásicos. Se presenta un brote familiar de piodermitis por Staphylococcus aureus meticilino-resistente adquirido en la comunidad, ocurrido en la ciudad de Valparaíso-Chile, que afectó a una madre de veintiséis años y a su hijo de diez quienes debieron ser tratados con aseo quirúrgico y cotrimoxazol forte, con buena respuesta clínica.


Abstract Community-acquired methicillin-resistant Staphylococcus aureus infections are becoming more frequent and should be suspected in cases of pyoderma or other necrotizing infections, both in children and adults without classic risk factors. A family outbreak of pyodermitis by Community-acquired methicillin-resistant Staphylococcus aureus infection occurred in Valparaíso-Chile, which affected a twenty-six-year-old mother and her ten-year-old son, who had to be treated with a surgical toilet and cotrimoxazole forte, with good clinical response.

16.
Anticancer Res ; 41(7): 3649-3656, 2021 Jul.
Article in English | MEDLINE | ID: mdl-34230163

ABSTRACT

BACKGROUND/AIM: Postoperative pancreatic fistula after distal pancreatectomy represents the most frequent procedure-related complication; however, a standard treatment is currently not available. CASE REPORT: We herein report a case of postoperative pancreatic fistula after distal pancreatectomy and splenectomy in a patient affected by a platinum-sensitive ovarian cancer recurrence. The 59-year-old patient developed a pancreatic fistula on postoperative day 4. An endoscopic transgastric double-pigtail drainage was placed on postoperative day 13. The patient was discharged after 5 days and referred to adjuvant medical treatment. A month later, computed tomography revealed complete resolution of the fistula, the drainage was removed, and the patient continued chemotherapy. She recovered uneventfully at a 3-month follow-up. CONCLUSION: EUS-guided drainage is a viable option in the management of postoperative pancreatic fistula, which can lead to a rapid resolution of peripancreatic fluid collections and to initiation of adjuvant chemotherapy with the slightest delay in ovarian cancer patients.


Subject(s)
Neoplasm Recurrence, Local/surgery , Neoplasm Recurrence, Local/therapy , Ovarian Neoplasms/surgery , Ovarian Neoplasms/therapy , Pancreatic Fistula/surgery , Pancreatic Fistula/therapy , Drainage/methods , Female , Humans , Middle Aged , Pancreas/surgery , Pancreatectomy/methods , Postoperative Period , Splenectomy/methods
17.
PLoS One ; 16(2): e0247363, 2021.
Article in English | MEDLINE | ID: mdl-33606809

ABSTRACT

Brazil is the largest country in South America and the most genetically heterogeneous. The aim of the present study was to determine the prevalence of germline pathogenic variants (PVs) in Brazilian patients with breast cancer (BC) who underwent genetic counseling and genetic testing at a tertiary Oncology Center. We performed a retrospective analysis of the medical records of Brazilian patients with BC referred to genetic counseling and genetic testing between August 2017 and August 2019. A total of 224 unrelated patients were included in this study. Premenopausal women represented 68.7% of the cohort. The median age at BC diagnosis was 45 years. Multigene panel testing was performed in 219 patients, five patients performed single gene analysis or family variant testing. Forty-eight germline PVs distributed among 13 genes were detected in 20.5% of the patients (46/224). Eighty-five percent of the patients (91/224) fulfilled NCCN hereditary BC testing criteria. Among these patients, 23.5% harbored PVs (45/191). In the group of patients that did not meet NCCN criteria, PV detection rate was 3% (1/33). A total of 61% of the patients (28/46) harbored a PV in a high-penetrance BC gene: 19 (8.5%) BRCA1/2, 8 (3.5%) TP53, 1 (0.5%) PALB2. Moderate penetrance genes (ATM, CHEK2) represented 15.2% (7/46) of the positive results. PVs detection was statistically associated (p<0.05) with BC diagnosis before age 45, high-grade tumors, bilateral BC, history of multiple primary cancers, and family history of pancreatic cancer. According to the current hereditary cancer guidelines, 17.4% (39/224) of the patients had actionable variants. Nine percent of the patients (20/224) had actionable variants in non-BRCA genes, it represented 43.5% of the positive results and 51.2% of the actionable variants. Considering the observed prevalence of PVs in actionable genes beyond BRCA1/2 (9%, 20/224), multigene panel testing may offer an effective first-tier diagnostic approach in this population.


Subject(s)
Breast Neoplasms/diagnosis , Genetic Markers , Germ-Line Mutation , BRCA1 Protein/genetics , BRCA2 Protein/genetics , Brazil , Breast Neoplasms/genetics , Checkpoint Kinase 2/genetics , Fanconi Anemia Complementation Group N Protein/genetics , Female , Genetic Counseling , Genetic Predisposition to Disease , Humans , Premenopause , Retrospective Studies , Tertiary Care Centers , Tumor Suppressor Protein p53/genetics
19.
Actual. nutr ; 21(2): 43-49, Abril-Junio de 2020.
Article in Spanish | LILACS | ID: biblio-1282315

ABSTRACT

En las últimas décadas, los cambios en el estilo de vida pro-vocaron un incremento en la prevalencia del síndrome meta-bólico y que la enfermedad por hígado graso no alcohólico (nonalcoholic fatty liver disease, NAFLD sus siglas en inglés) se convierta en la enfermedad hepática crónica más fre-cuente en todo el mundo. Los componentes del síndrome metabólico no son sólo altamente prevalentes en pacientes con hígado graso no alcohólico, sino que a la vez aumentan el riesgo de desarrollarlo. Esta relación bidireccional ha sido claramente establecida. Asimismo se considera que NAFLD podría ser el componente hepático del síndrome metabólico. Aunque NAFLD se considera principalmente una enfermedad benigna, puede progresar a fibrosis hepática grave y carcino-ma hepatocelular (CHC), incluso se encontraría este último en hígados no cirróticos. El objetivo de esta revisión es determinar los procesos fisio-patológicos comunes a estas entidades, cuáles son las estra-tegias diagnósticas recomendadas y cuáles las intervenciones terapéuticas actualmente aprobadas.


Subject(s)
Humans , Male , Female , Carcinoma, Hepatocellular/etiology , Metabolic Syndrome/etiology , Non-alcoholic Fatty Liver Disease/complications , Liver Neoplasms/etiology , Fibrosis/etiology , Fibrosis/physiopathology , Fibrosis/therapy , Risk Factors , Carcinoma, Hepatocellular/physiopathology , Carcinoma, Hepatocellular/therapy , Carcinoma, Hepatocellular/diagnostic imaging , Metabolic Syndrome/diagnosis , Metabolic Syndrome/physiopathology , Metabolic Syndrome/therapy , Diabetes Mellitus/etiology , Diabetes Mellitus/physiopathology , Diabetes Mellitus/therapy , Non-alcoholic Fatty Liver Disease/diagnosis , Non-alcoholic Fatty Liver Disease/physiopathology , Non-alcoholic Fatty Liver Disease/therapy , Liver Neoplasms/physiopathology , Liver Neoplasms/therapy , Liver Neoplasms/diagnostic imaging
20.
Int J Gynecol Cancer ; 30(5): 648-653, 2020 05.
Article in English | MEDLINE | ID: mdl-32221020

ABSTRACT

BACKGROUND: A Total Retroperitoneal en bloc resection Of Multivisceral-Peritoneal packet (TROMP operation) is a no-touch isolation technique in a retroperitoneal space to resect the parietal peritoneum and the affected organs in advanced ovarian cancer. The study prescribed and analysed the results of this novel technique for primary cytoreductive surgery. METHODS: The study included 208 patients operated between January 2015 and December 2017 in Charité, Berlin. The TROMP operation was performed in 58 patients, whereas the other 150 patients were operated with the conventional cytoreductive method. RESULTS: The complete tumor resection rate accounts for 87.9% in TROMP group and 61.3% in the conventional surgery group. (p=0.001). This difference was even stronger in the sub-group of very advanced stages (T3c+T4) (85.1% of TROMP group and in only 53.1% in the conventional surgery group, p=0.001). The duration of the primary cytoreductive surgery was about 33 minutes shorter in TROMP group (median: 335 minutes vs 368 minutes; TROMP vs conventional, respectively) in spite of the fact that the most advanced cytoreductive procedures were performed statically significant more in TROMP operation arm in comparison with the conventional surgery arm. There was no statistically significant difference between the groups regarding the postoperative complication, blood loss or the length of stay in intensive care unit. CONCLUSION: Total retroperitoneal en bloc resection of multivisceral-peritoneal packet (TROMP operation) is a feasible and very effective technique of surgical therapy in advanced ovarian cancer. This technique increased the complete tumor resection rate to 87.9% without increasing the blood loss, postoperative complications or the duration of surgery. A prospective randomized study is advised to validate these results.


Subject(s)
Carcinoma, Ovarian Epithelial/surgery , Ovarian Neoplasms/surgery , Adult , Aged , Aged, 80 and over , Carcinoma, Ovarian Epithelial/mortality , Carcinoma, Ovarian Epithelial/pathology , Cytoreduction Surgical Procedures/adverse effects , Cytoreduction Surgical Procedures/methods , Cytoreduction Surgical Procedures/mortality , Female , Germany/epidemiology , Humans , Middle Aged , Morbidity , Neoplasm Staging , Ovarian Neoplasms/mortality , Ovarian Neoplasms/pathology , Peritoneum/surgery , Retroperitoneal Space/surgery , Retrospective Studies , Viscera/surgery , Young Adult
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