DNA Repair Genes as Drug Candidates for Early Breast Cancer Onset in Latin America: A Systematic Review.

The prevalence of breast cancer in young women (YWBC) has increased alarmingly. Significant efforts are being made to elucidate the biological mechanisms concerning the development, prognosis, and pathological response in early-onset breast cancer (BC) patients. Dysfunctional DNA repair proteins are implied in BC predisposition, progression, and therapy response, underscoring the need for further analyses on DNA repair genes. Public databases of large patient datasets such as METABRIC, TCGA, COSMIC, and cancer cell lines allow the identification of variants in DNA repair genes and possible precision drug candidates. This study aimed at identifying variants and drug candidates that may benefit Latin American (LA) YWBC. We analyzed pathogenic variants in 90 genes involved in DNA repair in public BC datasets from METABRIC, TCGA, COSMIC, CCLE, and COSMIC Cell Lines Project. Results showed that reported DNA repair germline variants in the LA dataset are underrepresented in large databases, in contrast to other populations. Additionally, only six gene repair variants in women under 50 years old from the study population were reported in BC cell lines. Therefore, there is a need for new approaches to study DNA repair variants reported in young women from LA.

Elevated D-Dimer and acute pulmonary embolism in COVID-19 patients / Dímero-D elevado y tromboembolismo pulmonar agudo en pacientes con COVID-19

INTRODUCTION: It has been determined that patients with SARS-CoV-2 infection and severe pneumonia with elevated D-dimer values ​​can develop acute pulmonary thromboembolism (APE) as a complication, being one of the causes related to mortality in this group of patients. METHODS: A retrospective analysis of 12 patients diagnosed with SARS-CoV-2 infection with high clinical suspicion of APE confirmed by computed tomography pulmonary angiopgraphy (CTPA) was performed and the described findings are described. RESULTS: 12 patients with diagnosis of severe pneumonia, elevated D-dimer 9.2 μg / ml (1.4 - ˃20 μg / mL) and confirmation of SARS-CoV-2 infection through real-time reverse transcription polymerasa chain reaction (RT-PCR). APEs were observed mainly in segmental arteries (75%) and main arteries (25%). Pneumonia with patched areas of bilateral ground glass opacities was observed in 100% of the sample as a typical finding of SARS-CoV-2 infection. CONCLUSION: SARS-CoV-2 infection is related to elevation of D-dimer and APE. The CTPA determines the diagnosis, severity and timely management (anticoagulation) of patients with APE. Therefore CTPA should be considered in all patients with elevated D-dimer or clinical worsening

INTRODUCCIÓN: Se ha determinado que los pacientes con infección por SARS-CoV-2 y neumonía severa con valores elevados de dímero-D, pueden desarrollar tromboembolismo pulmonar agudo (TEP) como complicación, siendo una de las causas relacionada con la mortalidad en este grupo de pacientes. MATERIAL Y MÉTODOS: Se realizó un análisis retrospectivo de 12 pacientes con diagnóstico de infección por SARS-CoV-2 con alta sospecha clínica de APE confirmado por angio tomografia computarizada (AngioTC) y se describen los hallazgos descritos. RESULTADOS: 12 pacientes con diagnóstico de neumonía severa, dímero-D elevado 9,2 μg/ml (1,4 - ˃20 μg/ml) y confirmación de infección de SARS-CoV-2 a través de reacción en cadena de polimerasa reversa (RT-PCR). Se objetivaron TEP principalmente en arterias segmentarias (75%) y arterias principales (25%). En el 100% de la muestra se objetivó neumonía con áreas parcheadas de vidrio deslustrado bilaterales como hallazgo típico de infección por SARS-CoV-2. CONCLUSIÓN: La infección por SARS-CoV-2 está relacionada con elevación del dímero-D y con TEP. La angioTC determina el diagnóstico, severidad y manejo oportuno (anticoagulación) de los pacientes con TEP. Por tanto el angioTC debe ser considerado en todos los pacientes con dímero-D elevado o empeoramiento clínico

Analysis of the Spanish-speaking mailing list RADIOLOGIA.

The objective of this study was to analyse the mailing list RADIOLOGIA during its first 5 years of operation (from 1998 to 2003). A survey questionnaire was sent to evaluate the characteristics of subscribers and to score (from 0 to 9) the functionality, usefulness and quality of the mailing list. All messages sent to the list during the evaluated period were classified and quantified. A social network analysis was performed from all messages replied to during 2001 and 2002 with the option "reply to" included in the subject. One hundred and forty (36.8%) responses were collected from 380 subscribers, mainly radiologists (90.0%). 80% of responders were located in Spain, 16% in Latin America, and 4% in other places. The obtained scores (mean+/-standard deviation) were: functionality 7.4+/-1.3; usefulness 7.0+/-1.4; and quality of e-mail contents 6.0+/-1.4. During the evaluated period 2700 e-mail messages were sent to the list, with a monthly distribution of 44.3+/-26.0. The list functioning has been based on an active minority of subscribers that provided information and responses to the rest of the subscribers, a ring of active members that participated in discussions, and about 50% of passive members.

Fine needle aspiration cytology of clear cell carcinoma of the gallbladder with hepatic infiltration: a case report.

BACKGROUND: Clear cell carcinoma of the gallbladder (CCG) is an unusual histologic variant recognized in the World Health Organ ization classification of tumors of the gallbladder and extrahepatic bile ducts. Although the clinicopathologic features have been documented in a few reports, to our knowledge the cytologic findings have not been described before. We report the fine needle aspiration cytology (FNAC) findings in a case of CCG with hepatic infiltration. CASE: A 72-year-old woman presented with right upper quadrant pain and hepatomegaly. Serum levels of CA19-9 and alpha-fetoprotein were elevated. Computed tomography revealed several hepatic nodules, the larger of which was a mass in contact with the gallbladder, which had a thickened wall. FNAC showed loose sheets and disassociated cells with abundant, clear, finely vacuolated cytoplasm. Atypical bare nuclei, binucleated cells and some multinucleated cells were also found. A simultaneous trucut biopsy from the main hepatic mass confirmed the diagnosis. CONCLUSION: CCG is a clear cell neoplasm that should be considered when clear changes are observed on FNAC. Recognition of the cytologic features, together with adequate clinicoradiologic study, may be sufficient to establish the diagnosis.

[Diagnostic value of D-dimer in patients with a low pretest probability of deep venous thrombosis of lower extremities]. / Valor diagnóstico del dímero-D en pacientes con baja probabilidad clínica de trombosis venosa profunda en miembros inferiores.

BACKGROUND: We aimed to assess the accuracy of a diagnostic strategy including broth clinical assessment and determination of D-dimer (DD) in patients with clinically suspicion of low pretest probability of deep venous thrombosis (DVT). METHOD: 149 outpatients (mean age 69; SD 16) with clinically suspected proximal DVT attending our Emergency Department and classified as low pretest probability were included in an observational prospective study. In patients with a DD (STA Liatest D-Di, Diagnostica Stago, Asnières sur Seine, France) concentration below the cut-off value (0.4 ng/ml) the diagnosis of DVT was readily ruled out, whereas those individuals with a positive DD result underwent compression Doppler venous ultrasound. A 3-month clinical follow-up was carried out in those patients in whom a diagnosis of DVT was initially excluded. RESULTS: Only 2 cases of DVT were confirmed (prevalence 1.3%; CI 95%, 0.2-5.3). In 47.6% of cases, a DD negativity ruled out the diagnosis of DVT. The rate of negative DD results was significantly lower in patients below 70 years of age as compared to older patients (73.6 versus 33.3%) (p < 0.001). Sensitivity, specificity, positive predictive value and negative predictive value of DD in our series were 100% (CI 95%,19.7-95.1), 48.3% (CI 95%, 40.0-56.7), 2.6% (CI 95%, 0.4-9.8) and 100% (CI 95%, 93.6-99.8) respectively, the latter being similar in the two age groups. No case of DVT was diagnosed during the follow-up period. CONCLUSIONS: In patients with a low pretest probability of DVT a negative DD result reliably and safely rules out such diagnosis. However, the diagnostic value of DD is lower in elderly patients (>= 70 years of age) due to a lower rate of negative results in these individuals.

Valor diagnóstico del dímero-D en pacientes con baja probabilidad clínica de trombosis venosa profunda en miembros inferiores / Diagnostic value of D-dimer in patients with a low pretest probability of deep venous thrombosis of lower extremities

FUNDAMENTO: Análisis de una estrategia diagnóstica que incluye la evaluación clínica y el dímero-D (DD) en pacientes con sospecha clínica de baja probabilidad de trombosis venosa profunda (TVP). MÉTODO: Se ha realizado un estudio observacional y prospectivo que incluía a 149 pacientes (edad media [DE] 69 [16] años) que acudieron al Servicio de Urgencias de nuestro hospital con una sospecha clínica de TVP proximal y que fueron clasificados como de baja probabilidad clínica. En aquellos sujetos con un valor de DD (STA Liatest® D-Di, Diagnostica Stago, Asnières sur Seine, Francia) negativo (< 0,4 ng/ml) se consideró como excluido el diagnóstico, mientras que en aquellos con positividad de dicho parámetro se indicó una ecografía Doppler de compresión venosa. Se ha llevado a cabo un seguimiento clínico de 3 meses de duración en aquellos pacientes en los que el diagnóstico de TVP fue inicialmente excluido. RESULTADOS: Se confirmaron dos casos de TVP (prevalencia, 1,3 por ciento; intervalo de confianza [IC] del 95 por ciento, 0,2-5,3). En un 47,6 por ciento de los casos el diagnóstico de TVP fue excluido debido a la negatividad del DD; la proporción de resultados negativos del DD fue significativamente inferior en el grupo de pacientes menores de 70 años (73,6 por ciento) que en los de dicha edad o mayores (33,3 por ciento) (p < 0,001). La sensibilidad, la especificidad, el valor predictivo positivo y el valor predictivo negativo del DD en nuestra serie fueron del 100 por ciento (IC del 95 por ciento, 19,7-95,1), el 48,3 por ciento (IC del 95 por ciento, 40,0-56,7), el 2,6 por ciento (IC del 95 por ciento, 0,4-9,8) y el 100 por ciento (IC del 95 por ciento, 93,6-99,8), respectivamente, siendo este último similar en los dos grupos de edad mencionados. No se diagnosticó ningún caso de TVP durante el período de seguimiento. CONCLUSIONES: En pacientes con baja probabilidad clínica de TVP proximal, la negatividad del DD excluye el diagnóstico de un modo seguro, si bien el valor de este parámetro es menor en pacientes ancianos ( 70 años) debido a la menor proporción de resultados negativos en este grupo de pacientes (AU)