Spectrum of BRCA1/2 variants in 940 patients from Argentina including novel, deleterious and recurrent germline mutations: impact on healthcare and clinical practice.

BRCA1/2 mutations in Latin America are scarcely documented and in serious need of knowledge about the spectrum of BRCA pathogenic variants, information which may alter clinical practice and subsequently improve patient outcome. In addition, the search for data on testing policies in different regions constitutes a fundamental strength for the present study, which analyzes BRCA1/2 gene sequences and large rearrangements in 940 probands with familial and/or personal history of breast/ovary cancer (BOC). In non-mutated DNA samples, Multiplex Ligation-dependent Probe Amplification assays (MLPA) were used for the analysis of large rearrangements. Our studies detected 179 deleterious mutations out of 940 (19.04%) probands, including 5 large rearrangements and 22 novel mutations. The recurrent mutations accounted for 15.08% of the total and only 2.87% of the probands analyzed, very different from a Hispanic panel previously described. IN CONCLUSION: a) this first comprehensive description of the spectrum in BRCA1/2 sheds light on the low frequency of recurrent mutations; b) this information is key in clinical practice to select adequate sequencing studies in our population, subsequently improve patient outcome and prevent damage associated to false normal reports resulting from the use of invalid population panels; c) panels of mutations from other populations should be cautiously validated before imported, even those of apparently similar origin, a concept to be considered beyond significance in Argentina.

Perfil epidemiológico del cáncer de mama en la República Argentina / Epidemiological profile of breast cancer in Argentina

Se realizó un estudio para conocer el patrón epidemiológico de presentación de casos nuevos de cáncer de mama en la Argentina. En un total de 1.544 casos con confirmación histológica, diagnosticados durante los años 2012 y 2013, se estudiaron los siguientes parámetros: a) demográficos, b) biológicos, c) clínicos, d) métodos de diagnóstico y e) patológicos. Los principales resultados fueron: a) edad media de 59,9 años; 24,5% con estudios universitarios; 66,8 % con conocimiento del "autoexamen mamario" con porcentajes menores de práctica relacionados con el bajo nivel de educación y el aumento de la edad; b) menopausia presente en 74% de los pacientes; antecedente personal de cáncer de mama en un 10,2% y familiar en el 29%; c) 45,4 % de los tumores entre 1-3 cm; 1,9% de formas bilaterales; d) los métodos de diagnóstico por imágenes mostraron una alta práctica (más del 90% de los casos) de la mamografía y la ecografía con una alta sensibilidad (84% y 90,2%, respectivamente); la práctica de punción con aguja gruesa se realizó en el 45,5% de los casos con 95,6% de positividad; e) 86,6% de formas infiltrantes con predominio de los tipos histológicos ductales; perfil molecular con un 7% de triple-positivo y 10% de triple negativo; pTNM estadio 0 en el 5,6% de los casos, I en el 38,2 %. II en el 36,3%, III en el 14,6% y 3,2% en el IV. En comparación con un estudio anterior (1983-1984) de similares características no se observan diferencias significativas en el perfil de presentación del cáncer de mama en nuestro país.

A study was carried out to know the epidemiological patterns of newly diagnosed breast cancer in Argentina. In a total of 1544 histological confirmed cases, diagnosed during the years 2012 and 2013, the following parameters were studied: a) demographic, b) biological, c) clinical, d) diagnostic methods and e) pathological. The main results were: a) mean age of 59,9 years; 24,5% with university studies; 66,8% of "self-breast examination" knowledge with lower percentages of practice related with low education level and increased age; b) menopause present in 74% of patients, personal antecedent of breast cancer in 10,2% and familial in 29%; c) 45,4% tumors are between 1-3 cm, 1,9% of bilateral forms; d) the diagnostic image methods performed showed high practice (over 90% of the cases) of mammography and ultrasonography with high sensibility (84 and 90,2% respectively), core needle puncture practice in 45.5% of cases with 95,6% of positivity; e) 86,6% of infiltrating forms with predominance of ductal histological types; 7% triple-positive and 10% triple-negative molecular profile; pTNM stage 0 in 5.6% of cases, I in 38,2%, II in 36,3%, III in 14,6% and IV in 3,2%. Compared with a similar previous study (1983-1984) no significant differences are observed in the profile of presentation of breast cancer in our country.

Caracterización del cáncer de mama en mujeres de la Argentina. Grupo Colaborativo para el Estudio del Cáncer de Mama en la Argentina. PROYCAM2012 / Characterization of breas cancer in woman of Argentina. Collaborative Group for the Study of Breast Cancer in Argentina. PROYCAM2012

En la Argentina el cáncer de mama con un 25 por ciento del total es la neoplasia maligna más común en las mujeres. El objetivo del presente trabajo es describir el perfil epidemiológico, clínico y patológico de mujeres con cáncer de mama concurrentes a centros asistenciales, públicos y privados del país, adheridos voluntariamente al Grupo Colaborativo durante el período 2012-2013. De los 607 casos reportados corresponden un 27 por ciento al sector público y un 73 por ciento al privado. Según subsectores: de obra social, 63.7 por ciento; sin cobertura, 19.7 por ciento; sistema prepago, 14.2 por ciento y mutal, 2.2 por ciento. Los casos por jurisdicciones fueron: Mendoza, 20.5 por ciento; CABA, 19.9 por ciento; Buenos Aires, 13.6 por ciento; Tucumán, 10.8 por ciento; Córdoba, 6.9 por ciento ; Río Negro, 4.9 por ciento y el resto del país, 23 por ciento. Edad de presentación promedio fue de 57.5 años, Con un rango de 63.4 (90.6-27.9). La mayor frecuencia se dio entre los 50-59 años con un 27.2 por ciento. Estadios: El pTNM de presentación en 506 casos fue: estadio 0: 5.9 por ciento; I: 37.7 por ciento; II: 35.7 por ciento; III: 18.8 por ciento y IV: 1.5 por ciento. Un estudio epidemiológico colaborativo sobre el cáncer de mama brinda información sobre las características biológicas y epidemiológicas en un breve lapso, considerando diferencias geográficas, socio-demográficas, biológicas e institucionales subyacentes en la prevención y el diagnóstico de esta patología.

In Argentina breast cancer with 25 percent of the total is the most common malignancy in women. The aim of this paper is to describe the epidemiological, clinical and pathologic women attending breast cancer care centers, public an private, voluntarily adhered to a Collaborative Group for the period 2012-2013. Of the 607 cases reported 27 percent are from the public and 73 percent from private sector. According to the subsectors they were from : social work, 63.7 percent; uninsured, 19.7 percent; prepaid system, 14.2 percent and mutual, 2.2 percent. Cases by jurisdictions were: Mendoza, 20.5 percent; CABA, 19.9 percent; Buenos Aires, 13.6 percent; Tucumán, 10.8 percent; Córdoba, 6.9 percent ; Río Negro, 4.9 percent and rest of the country, 23 percent. Average age at presentation was 57.5 years, with a range 63.4 years (90.6-27.9). The highest frequency was between 50-59 years with 27.2 percent. The pTNM of 506 cases was: stage 0: 5.9 percent; I: 37.7 percent; II: 35.7 percent; III: 18.8 percent and IV: 1.5 percent. A colaborative epidemiology study on breast cancer provides information on the biological and epidemiology in a short time, considering geographical, socio-demographic, biological and institutional differences underlying the prevention and diagnosis of this pathology.

[Risks of manual movement of patients]. / Rischi da movimentazione manuale di pazienti.

The paper is a survey about Italian new rules and critical issues relative to health care manual material handling risk management. The Legislative Decree 81/2008 introduced the definition of "pathologies due to biomechanical overload". This definition is more consistent and broad than the previous one that was mainly related to spine pathologies. Furthermore the new Decree addresses the importance of a dedicated staff to train workers in lifting and moving patients. This training is now mandatory. Regarding to risk assessment, the new rule suggests to use, as a main tool, the ISO standard 11228. The different risk assessment approaches are discussed according to the Italian Society of Occupational Medicine and Industrial Hygiene Guidelines. Medical surveillance, based on the bio psychosocial model, has to be measured in terms of efficacy and should targeted not only to lumbar spine but also to shoulder and other musculoskeletal localizations. It is important to note that even if patients do not fully recover from sickness the return to work has to be encouraged assigning them tasks tailored to the residual capacities. Finally the authors discuss the relative efficacy of the different preventive interventions (information and training, aids and physical exercise) suggesting that a multifactorial approach is the only strategy to pursue to get positive results.

Musculoskeletal complaints among Italian X-ray technology students: a cross-sectional questionnaire survey.

BACKGROUND: There is a high prevalence of musculoskeletal disorders among healthcare professional students. Although recent studies show musculoskeletal disorders are a common problem among X-ray technologists, there are no data on these disorders among students of this healthcare profession. We have therefore estimated the prevalence of musculoskeletal complaints among a group of X-ray technology students. METHODS: The students (n = 109) currently attending the 3-year X-ray technologist school at a large University in the Apulia region of Southern Italy were recruited for the study, with a 100% participation rate. A questionnaire collected data concerning personal characteristics, physical exposure during training activities, and the presence of musculoskeletal symptoms in the neck, shoulders, low back, hand/wrist and legs. RESULTS: The prevalence of complaints in any body site over the previous 12 months was 37%. Low back pain was the most frequently reported symptom (27%), followed by neck (16%), shoulder (11%), leg (8%) and hand/wrist (5%) pain. Poor physical activity was associated with the complaints. CONCLUSIONS: Our study showed prevalence rates of musculoskeletal complaints among X-ray technology students to be somewhat high, representing about half of those found in Italian technologists. The most common musculoskeletal problem was low back pain, which had also been found in research conducted among nursing students. Our research also showed a significant association between poor physical activity and the presence of musculoskeletal disorders in young university students.

Bilateral carpal tunnel syndrome and ulnar neuropathy at the elbow in a pizza chef.

A case of bilateral carpal tunnel syndrome and ulnar neuropathy at the elbow in a 22-year-old pizza chef is described. An on-site analysis revealed that job tasks performed by the worker exposed him to a combination of biomechanical risk factors. Patient history and workplace observations suggest that occupational physical exposure may have caused the bilateral entrapment neuropathies. The present report underlines the advisability of a detailed occupational history in the case of entrapment neuropathies of the upper limbs commonly regarded as being related to biomechanical occupational exposure.

Ginecología de Gori

Contenido: Anatomía del aparato genital femenino y de la glándula mamaria. Embriología urogenital y mamaria. Fisiología genital femenina. Etapas evolutivas biológicas de la mujer y de la personalidad femenina. Semiología ginecológica. Alteraciones del ciclo sexual bifásico. Anovulación crónica. Metrorragias. Infecciones ginecológicas. Enfermedad pelviana inflamatoria. Aborto. Embarazo ectópico. Enfermedad trofoblástica gestacional. Tumores del ovario. Patología cervical uterina. Patología vaginal. Patología vulvar. Endometrosis. Anomalías del desarrollo. Distopias genitales. Patología urinaria de la mujer. Reproducción humana. Planificación familiar. Hormonoterapia. Biología tumoral. Operaciones ginecológicas. Patología mamaria. Dolor en ginecología...

A review of low back pain and musculoskeletal disorders among Italian nursing personnel.

This review targeted all research previously conducted on the topic of musculoskeletal disorders among Italian nursing personnel, with a particular focus on studies that had examined individual, physical and psychosocial risk factors. Scientific literature published in both English and Italian languages was searched using electronic and manual techniques. A total of 25 appropriate studies were located and examined, most of which had focused on the prevalence of low back pain (LBP) among nurses. From the review, it was shown that LBP prevalence rates have varied widely among different investigations conducted in Italy, ranging from 33% to 86%. Previous studies also suggest that female gender, physical factors and psychosocial factors are important LBP risk factors in this country. Since most of the data currently available describes nurses working in the northern and central regions only, further investigations should now be undertaken in southern Italy, in order to obtain a more complete overview of the problem from a national perspective. Furthermore, a standardized method for measuring these conditions is strongly recommended for future Italian research, to allow better local and international comparison of the data.

Musculoskeletal complaints among Italian X-ray technologists.

The aim of this study was to determine the prevalence of musculoskeletal complaints among X-ray technologists and to examine their relationship with physical and psychosocial factors. A cross-sectional study was performed in 2006 among 203 X-ray technologists working in 13 hospitals in the Apulia region of southern Italy. A questionnaire was used to collect data on personal characteristics, physical workload, psychosocial aspects, and the presence of musculoskeletal symptoms in the neck, shoulders, low back, hand/wrist and legs. Univariate analyses and multiple logistic regression analyses were then performed. The prevalence of complaints at any body site in the previous 12 months was 67%. Low back pain was the most commonly reported symptom (59.6%), followed by shoulder (21.2%), neck (19.7%), leg (13.8%) and hand/wrist pain (12.3%). Age was associated with low back pain, while high physical workload was associated with symptoms in the neck, low back and hand/wrist. High job demands were associated with neck and shoulder pain. Overall, our study suggests high prevalence rates of musculoskeletal complaints may exist among Italian X-ray technologists. Physical workload, psychosocial and individual factors appear to be important risk factors for musculoskeletal disorders within this occupational group.

Anticuerpos monoclonales: su importancia en el diagnóstico y el pronóstico del cáncer de mama / Monoclonal antibodies: their importance in the diagnosis and the prognosis of the breast cancer

El cáncer de mama representa la principal causa de mortalidad por cáncer en las mujeres de los países industrializados. Los principales factores de riesgo son: factores genéticos y familiares, factores hormonales y antecedentes de patología mamaria benigna. Una vez establecida la enfermedad los principales factores prónostico son: el número de métastasis y su localización, el tamaño del tumor primario, el tipo y el grado histológico y la presencia de receptores hormonales. En la actualidad existe un concepto generalizado sobre el hecho que la fisiopatogenia del cáncer de mama es un proceso en el cual participan varios factores. Para la comprensión de estos procesos, los recientes avances en biología molecular y el descubrimiento de los hibridomas, aparecen como esenciales. En el presente trabajo pretendemos profundizar sobre la utilidad de los anticuerpos monoclonales en relación al diagnóstico y al pronóstico del cáncer de mama. Estudiamos el valor de ciertos anticuerpos monoclonales. El MCAb 12 útil para diagnóstico del cáncer de mama y los anticuerpos antiestrofilina, el D5 anti proteína 29 y el Dextran Carbón para investigar receptores de estrógenos y por consiguiente de utilidad en el pronóstico y tratamiento de este tipo de carcinoma