Prevalence and Penetrance of BRCA1 and BRCA2 Germline Mutations in Colombian Breast Cancer Patients

9 páginasPathogenic BRCA1/2 germline mutations confer high risks of breast and ovarian cancer to women of European ancestry. Characterization of BRCA1/2 mutations in other ethnic groups is also medically important. We comprehensively screened 68 Colombian breast/ovarian cancer families for small-range mutations, 221 families for large-genomic rearrangements, and 1,022 unselected breast cancer cases for Colombian founder mutations in BRCA1/2. The risk of cancer among relatives of mutation carriers and the mutation penetrance were estimated by survival analysis. Identified BRCA2 mutations included 6310delGA and the recurrent 1991del4 mutations. A novel large BRCA2 deletion was found in 0.9% of the screened families. Among unselected breast cancer cases, 3.3% tested positive for BRCA1/3450del4, 2.2% for BRCA1/A1708E, 1.1% for BRCA2/3034del4, and 0.4% for BRCA2/1991del4. Female relatives of carriers of BRCA1/2 founder mutations showed a 5.90 times higher risk of breast cancer, when the woman herself carried a BRCA1 mutation compared to a non-carrier (95% CI 2.01–17.3). The estimated cumulative risk of breast cancer by age 70 years for BRCA1 mutations carriers was 14% (95% CI 5–38) compared to 3% for the general Colombian population (relative risk of breast cancer 4.05). Together with known founder mutations, reported novel variants may ease a cost-effective BRCA1/2 screening in women with Colombian ancestry

Oxygen saturation, periodic breathing, and sleep apnea in infants aged 1-4 months old living at 3200 meters above sea level

Objetivos: describir, en niños de 1-4 meses, a 3200 m de altura, la saturación de oxígeno (SpO2), los índices de apnea y la respiración periódica (RP) durante el sueño. Se realizaron polisomnografías en 18 lactantes sanos. Resultados: las medianas fueron de 87% para la SpO2 y de 7,2% para la RP del tiempo total de sueño. El índice de apnea central tuvo una mediana de 30,5/hora, que disminuyó a 5,4/hora al descontar las apneas asociadas a RP. El p5 de la SpO2 para niños despiertos fue de 76% y, para niños dormidos, de 66%. Conclusiones: la SpO2 fue inferior a la del nivel del mar y la RP y el índice de apnea central, mayores; al descontar las apneas centrales asociadas a RP. Este último, fue similar a la del nivel del mar. A 3200 m, se requieren puntos diferentes para la SpO2 normal, uno para niños despiertos y otro si están dormidos.Q4Q3Artículo original54-57Infates de 1-4 mesesObjectives: To describe, in infants aged 1-4 months old living at 3200 meters above sea level (MASL), oxygen saturation (SpO2), sleep apnea indices, and periodic breathing (PB) during sleep. Polysomnographies were done in 18 healthy infants. Results: The median SpO2 was 87%, and the median PB was 7.2% for the total sleep time. The median central sleep apnea index was 30.5/hour, which decreased to 5.4/hour once sleep apneas associated with PB were excluded. The 5th percentile for SpO2 was 76% among awake infants, and 66% among asleep infants. Conclusions: The SpO2 was lower than that observed at sea level, whereas PB and the central sleep apnea index were higher, once sleep apneas associated with PB were excluded. The latter was similar to that observed at sea level. At 3200 MASL, different cut-off points are required for a normal SpO2, one for infants during the waking state and one for infants during sleep

Low Prevalence of the Four Common Colombian Founder Mutations in BRCA1 and BRCA2 in Early-Onset and Familial Afro-Colombian Patients with Breast Cancer

Q1Q1Artículo académicoe475-e479.Background. Inherited mutations in the breast cancer susceptibility genes BRCA1 and BRCA2 (BRCA1/2) confer high risks of breast and ovarian cancer. In Colombian Hispanic families, four common BRCA1/2 founder mutations have previously been identified. Because nothing is known about the contribution of BRCA1/2 germline mutations to early-onset and hereditary breast and/or ovarian cancer in Afro-Colombians, we conducted the first study on 60 patients with early-onset and familial breast cancer in this population. Materials and Methods. Screening for the four Colombian founder mutations BRCA1/c.3331_3334delCAAG, BRCA1/ c.5123C>A, BRCA2/c.2806_2809delAAAC, and BRCA2/ c.1763_1766delATAA was performed using mismatch polymerase chain reaction (PCR) analysis, PCR-based restriction fragment length polymorphism analysis, and qualitative real-time PCR. Mutations were confirmed by direct DNA sequencing. Results. The BRCA1 founder mutation c.5123C>A was identified in one family with breast and ovarian cancer (1/60, 1.7%). Three women were diagnosed with breast cancer, including one with bilateral disease, at the ages of 30, 30/33, and 52 years, and one woman was diagnosed with ovarian cancer at the age of 60 years. Conclusion. Our data showed a low prevalence of the BRCA1/2 founder mutations in Colombians of African descent, implying that these mutations should not be recommended for genetic screening programs in the Afro-Colombian population

Modelamiento y simulación del tamaño de la muestra en algunos diseños de investigación en salud

IP 1203-05-10120v.1. Informe final -- v.2. Ficha tecnica del informe final.PONENCIA(S) EN CONGRESO: Empirical power from existing samplesize formulae for logistic regression. -- p.;169. -- En: 2001 Joint statistical meetings in Atlanta, Georgia(2001 Aug.5-9 : Atlanta, Georgia) --;Empirical power from existing sample size formulae for logisticregression/ Jacky F. Gil, Adriana Perez,;Javier A. Castañeda. -- En: Proceedings of the Annual Meetingofthe American Statistical Association (2001;Aug. 5-9 : Atlanta, Georgia) -- ARTICULO(S) EN REVISTA: Tamañode la muestra en analisis de sobrevida / Javier;A. Castañeda, Adriana Perez, Jacky F.A. Gil. -- En: Revista colombiana deestadistica. -- Vol. 23, no. 2;(2000); 46-64

Comparación de técnicas de estimación de valores faltantes para cuantificar la severidad fisiológica en pacientes admitidos ha cuidado intensivo en Colombia

IP 1203-04-954-98v.1. Informe Final -- v.2. Comparacion de tecnicas de estimacionde valores faltantes para cuantificar la severidad fisiologica en pacientes admitidos a cuidado intencivoen Colombia (IMPUCI) -- v.3. Folleto simposio de estadistica 2000 -- v.4. Presentacion: Predicting patientsoutcome in intensive care units in Colombia by using APACHE II and multiple imputation -- v.5. Use of multipleimputationtechnique to predict outcome in intensive care unit patients in Colombia

Descripción de los pacientes con síndrome metabólico y trasplante renal del programa de trasplantes del Hospital Universitario de San Ignacio

El trasplante renal es el tratamiento de elección en los pacientes con enfermedad renal crónica (ERG) estadio 5, ya que mejora la calidad de vida y prolonga la supervivencia, en comparación con los pacientes en diálisis