Psychological impact of multigene cancer panel testing in patients with a clinical suspicion of hereditary cancer across Spain.

OBJECTIVE: Patients' psychological reactions to multigene cancer panel testing might differ compared with the single-gene testing reactions because of the complexity and uncertainty associated with the different possible results. Understanding patients' preferences and psychological impact of multigene panel testing is important to adapt the genetic counselling model. METHODS: One hundred eighty-seven unrelated patients with clinical suspicion of hereditary cancer undergoing a 25-gene panel test completed questionnaires after pretest genetic counselling and at 1 week, 3 months, and 12 months after results to elicit their preferences regarding results disclosure and to measure their cancer worry and testing-specific distress and uncertainty. RESULTS: A pathogenic variant was identified in 38 patients (34 high penetrance and 4 moderate penetrance variants), and 54 patients had at least one variant of uncertain significance. Overall, cancer panel testing was not associated with an increase in cancer worry after results disclosure (P value = .87). Twelve months after results, carriers of a moderate penetrance variant had higher distress and uncertainty scores compared with carriers of high penetrance variants. Cancer worry prior to genetic testing predicted genetic testing specific distress after results, especially at long term (P value <.001). Most of the patients reported the wish to know all genetic results. CONCLUSIONS: Our results suggest that patients can psychologically cope with cancer panel testing, but distress and uncertainty observed in carriers of moderate penetrance cancer variants in this cohort warrant further research.

Building a network for multicenter, prospective research of central nervous system infections in South America: Process and lessons learned.

Multicenter collaborative networks are essential for advancing research and improving clinical care for a variety of conditions. Research networks are particularly important for central nervous system infections, which remain difficult to study due to their sporadic occurrence and requirement for collection and testing of cerebrospinal fluid. Establishment of long-term research networks in resource-limited areas also facilitates diagnostic capacity building, surveillance for emerging pathogens, and provision of appropriate treatment where needed. We review our experience developing a research network for encephalitis among twelve hospitals in five Peruvian cities since 2009. We provide practical suggestions to aid other groups interested in advancing research on central nervous system infections in resource-limited areas.

Prevalence of bacterial vaginosis among young women in low-income populations of coastal Peru.

The goal of this study was to determine the prevalence of bacterial vaginosis (BV) in Peruvian women from socioeconomically deprived populations and to determine the association between BV and risk factors for sexually transmitted diseases (STDs). Women were administered an epidemiologic survey to determine sexual risk behaviour and they provided biological samples to test for BV and STDs. The prevalence of BV was high (27%) and was significantly associated with having a bacterial STD or trichomoniasis. Age, marital status, and a history of sex work, but not of sexual experience, frequency of intercourse, and unprotected intercourse, were associated with BV. As BV may be a marker for STDs, screening for STDs should be performed in individuals with BV to promote early detection and treatment of co-infecting sexually transmitted pathogens.

Germline BRCA testing is moving from cancer risk assessment to a predictive biomarker for targeting cancer therapeutics.

PURPOSE: Originally, BRCA testing was used for risk assessment and prevention strategies for breast and ovarian cancer. Nowadays, BRCA status may influence therapeutic decision making at cancer diagnosis. Our objective was to analyze whether the medical advances have changed the burden and pattern of referral, and the pathogenic mutation detection rate. METHODS: We included 969 probands from our hereditary cancer registry who undertook a full BRCA analysis between 2006 and 2014. Chi-square tests were used to compare categorical variables. RESULTS: The number of genetic tests have raised from 28 to 170, representing a sixfold increase. In 2006, we tested 1.6 relatives/proband while this proportion was four in 2014. Overall, 20 % harbored a deleterious mutation and 11 % had a variant of unknown significance (VUS). There has been a downward trend in the detection rate of VUS. Testing patients with breast cancer during neoadjuvancy has raised from 4 to 25 % (p = 0.002), while testing them during remission has decreased from 79 to 29 % (p < 0.001). The proportion of patients assessed during the first 6 months after their cancer diagnosis has increased from 3 to 34 % (p = 0.001). Risk reducing mastectomy and salpingoophorectomy have raised from 0 to 24 %, and from 36 to 65 %, respectively. CONCLUSIONS: BRCA testing has experienced a sixfold increase, the number of relatives being tested has doubled, and the test is being performed at earlier phases of the disease. It is necessary to adequate the health resources to preserve the BRCA genetic counseling quality while incorporating BRCA testing for therapeutic decision making.

[Economic study of the cost of peripheral blood hematopoietic precursor autotransplantation compared with bone marrow transplantation]. / Estudio económico del coste del autotrasplante de precursores hematopoyéticos de sangre periférica comparado con el de médula ósea.

BACKGROUND: Rescue with progenitor cells (blood or bone marrow) following intensive chemotherapy is used ever more frequently and the results are particularly satisfactory in leukemias and lymphomas. Nonetheless, the real cost of this procedure is not known in Spain, thus the aim of this study. METHODS: The costs of autologous bone marrow transplantation (ABMT) in 10 patients was compared with another group of 10 patients with the same type of tumoral pathology in which autologous transplantation of peripheral blood precursors (APBP) was used. The period studied included from the first intervention related with the transplantation to 30 days post transplantation. RESULTS: The mean total price of ABMT (1,998 +/- 372 thousand pesetas) is similar to that of APBP (1,736 +/- 383). The length of neutropenia was lower in the APBP requiring fewer platelet transfusions but these difference did not reflect in significantly fewer admissions or in a lesser use of antibiotics. The main expense in both procedures was that of pharmacy followed by blood bank expenses in the ABMT and the expenses of obtaining hematopoietic precursors in the APBP. The saving achieved with the APBP in relation with its faster recovery are countered by the greater cost in obtaining the progenitor cells. Some factors (platelet support and days in the Intensive Care Unit) are responsible for the excessive increases in the cost of these procedures. CONCLUSIONS: Although the transfusion requirements are lesser in autologous transplantation of hematopoietic precursors and the speed of hematologic recovery is greater than in autologous bone marrow transplantation, the cost of both procedures is identical.

Low penetrance hereditary retinoblastoma in a family: what should we consider in the genetic counselling process and follow up?

Hereditary retinoblastoma (Rb) is a high penetrance autosomal dominant disease showing not only an increased risk of suffering bilateral Rb but also other second neoplasms. However, some families show a low-penetrance phenotype with reduced expressivity and incomplete penetrance of the retinoblastoma gene (RB1). Given the lack of specific guidelines for the follow-up of adult patients with hereditary Rb, the authors present a case report of a family with a low-penetrance phenotype and review the recommended surveillance in this setting, stressing the difficulties found in the genetic counselling process and follow up. Thus, since patients are at an increased risk, lifelong regular medical surveillance to detect any second malignancy at a stage that can be cured is required. In addition, avoidance of DNA-damaging agents and genetic testing should be considered for a throughout management of these families.

Aneurimas de pared posterior de carótida interna: aneurimas ventrales / Ventral aneurysms

Los aneurismas ventrales son aquellas lesiones localizadas en la pared posterior a la arteria carótida interna; según su localización, se pueden subdividir en proximales y distrales. El tratamiento de este tipo de aneurisma es complejo y la mayoría requiere el uso de varios clips para lograr asegurar el cuello en forma adecuada y permanente. El clipaje de estas lesiones involucra técnicas reconstructivas de la arteria carótida.

El triángulo del repliegue (plica) dural (triángulo del repliegue dural de Hakuba): su importancia en cirugía de base de cráneo / Hakuba´s dural folds triangle

El triángulo del repliegue dural de Hakuba es una área fácil de indenficar, sencilla de disecar y resecar, sumamente útil en el manejo de cierto de patología, sobre todo, aneurismas de bifurcación basilar, por lo que debe de ser sumado al armamentario neuroquirúrgico.

Germline BRCA testing is moving from cancer risk assessment to a predictive biomarker for targeting cancer therapeutics

Purpose: Originally, BRCA testing was used for risk assessment and prevention strategies for breast and ovarian cancer. Nowadays, BRCA status may influence therapeutic decision making at cancer diagnosis. Our objective was to analyze whether the medical advances have changed the burden and pattern of referral, and the pathogenic mutation detection rate. Methods: We included 969 probands from our hereditary cancer registry who undertook a full BRCA analysis between 2006 and 2014. Chi-square tests were used to compare categorical variables. Results: The number of genetic tests have raised from 28 to 170, representing a sixfold increase. In 2006, we tested 1.6 relatives/proband while this proportion was four in 2014. Overall, 20 % harbored a deleterious mutation and 11 % had a variant of unknown significance (VUS). There has been a downward trend in the detection rate of VUS. Testing patients with breast cancer during neoadjuvancy has raised from 4 to 25 % (p = 0.002), while testing them during remission has decreased from 79 to 29 % (p < 0.001). The proportion of patients assessed during the first 6 months after their cancer diagnosis has increased from 3 to 34 % (p = 0.001). Risk reducing mastectomy and salpingoophorectomy have raised from 0 to 24 %, and from 36 to 65 %, respectively. Conclusions: BRCA testing has experienced a sixfold increase, the number of relatives being tested has doubled, and the test is being performed at earlier phases of the disease. It is necessary to adequate the health resources to preserve the BRCA genetic counseling quality while incorporating BRCA testing for therapeutic decision making

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Anatomía microneuro-quirúrgica del Foramen de Vicq d'Azyr / Microneurosurgical anatomy of the foramen of Vicq d'Azyr

El foramen de Vicq d'Azyr es una expansión en forma triangular de la fisura mediana anterior en la cara ventral del bulbo, en su porción más rostral, justo por debajo de la unión ponto-bulbar. Múltiples ramas vasculares perforantes lo atraviesan para dar irrigación a los núcleos y tractos pontinos y bilbares del tallo cerebral; además, guarda estrecha relación con la unión vértebro-basilar y demás estructuras circundantes. El conocimiento de la microanatomía vascular de esta región es importante para llevar a cabo múltiples procedimientos microneuro-quirúrgicos a la hora de tratar diferentes patologías que afecten esta zona.

Cavum carotideo: controversia anatomía microquirúrquica / Carotid cave: controversy microsurgical anatomy

Debido a que la anatomía de esta región es compleja y variable, no ha sido comprendida adecuadamente. El cavum carotídeo se encuentra localizado en el segmento clinoideo, que es una zona de transición entre el espacio cavernoso y el subdural. La comprensión del segmento clinoideo es importante para el adecuado diagnóstico y manejo de aneurismas localizadas en esta compleja región. El abordaje quirúrgico depende de la localización exacta de la lesión. Este artículo revisa aspectos relevantes de la anatomía microquirúrgica del segmento clinoideo, cavum carotídeo y espacio clinoideo. Palabras claves: cavum carotídeo, segmento clinoideo, espacio clinoideo, anatomía microquirúrgica.

Espacio retrocarotídeo lateral: espacio retrocarotídeo medial: hacia la bifurcación basilar / I spread retrocarotideo laterally. I spread retrocarotideo medially: towards the basilary bifurcation

Los aneurismas de la bifurcación basilar son tributarios hoy en día de ser manejados o mediante terapia endovascular o en forma directa, con técnicas microquirúrgicas; aquellas lesiones grandes o gigantes y con cuellos anchos o las que integran en su cuello a la arteria cerebral posterior o perforantes talámicas, sobre todo, las mamilotalámicas, no son tributarias de ser manejadas con terapia endovascular. Para el cirujano de aneurismas es de capital importancia el conocimiento adecuado de los espacios retrocarotídeo lateral y medial.

Meningiomas clinoideos / Meningiomas clinoideos

Los meningiomas clinoideos se asocian con altas tasas de morbi-mortalidad y continúan siendo motivo de clasificaciones; estas lesiones son difíciles de manejar y su resección radical sigue siendo un reto para el cirujano; las escisiones subtotales presagian su recurrencia. La experiencia ha demostrado que este tipo de tumores puede clasificarse en IV grupos y dependiendo de éste, la resección radical será o no posible.

Aneurismas de M1. Anatomía microquirúrgica. Estrategia quirúrgica / M1 aneurysms. Microsurgical anatomy. Surgical strategy

Los aneurismas de la arteria cerebral media (ACM) comprenden el 20 por ciento de todos los aneurismas intracraneanos; aquellos localizados en el segmento M1, entre el 2 y el 10 por ciento de los casos. La ACM es una de las arterias cerebrales que presentan más variantes, tanto en curso, como en su morfometría, por lo que para el cirujano neurovascular es muy importante el tener un conocimiento importante de los aspectos microquirúrgicos, variantes y tipos de abordajes a estas lesiones. A pesar de los grandes adelantos en las técnicas microquirúrgicas, cirugía de base, neuroanestesiología, la morbi-mortalidad continúa siendo alta en estas lesiones. Palabras claves: arteria cerebral media, aneurisma, microcirugía, estrategia quirúrgica.

Enfermedad oclusiva de la arteria auditiva / Occlusive disease of the auditory artery

La enfermedad oclusiva es una entidad común, que puede presentarse con tres patrones clínicos diferentes: vértigo súbito, sordera unilateral súbita, o ambos. Este cuadro clínico ha recibido muy poca atención. El diagnóstico se establece clínicamente y el manejo es exlcusivamente sintomático. Generalmente los pacientes tienen un buen pronóstico