TRATAMIENTO DE LA HIDROCEFALIA CONGENITA EN LACTANTES Y NEONATOS DE BAJOS RECURSOS ECONOMICOS HOSPITAL DE APOYO DEPARTAMENTAL HIPOLITO UNANUE DE TACNA 1996 - 2000

En el Hospital de Referencia Departamental Hipólito Unanue de Tacna durante el periodo 1996-2000 se presentaron 22 casos de hidrocefalia, el 59% de casos estuvo asociada a otras malformaciones congénitas siendo la espina bífida con mielomeningocele lumbar la más frecuente (50%) De estos 22 pacientes 3 fallecieron, 4 no se operaron, 15 casos se operaron con éxito 2 (13.3%) lo hicieron con válvula de Pudenz y 13 casos con la técnica de Morían: Sistema de derivación doble codo antisifon para hidrocefalia congénita presentando evolución satisfactoria con remisión de los síntomas y signos de hidrocefalia, la mortalidad peri operatoria fue nula, complicaciones post operatorias similares a las presentadas con otras técnicas. En el seguimiento de los casos se encontró una mortalidad del 22.2%

Fine Mapping of 10q and 18q for Familial Alzheimer's Disease in Caribbean Hispanics

Familial Alzheimer's disease (AD [MIM 104300]) has been a focus of intense investigation, primarily in Caucasian families from Europe and North America families. Although the late-onset form of familial AD, beginning after age 65 years, has been linked to regions on chromosomes 10q and 12p, the specific genetic variants have not yet been consistently identified. Using a unique cohort of families of Caribbean Hispanics ancestry, we screened the genome using 340 markers on 490 family members from 96 families with predominantly late-onset AD. We observed the strongest support for linkage on 18q (LOD=3.14). However, 17 additional markers (chromosomes 1-6, 8, 10, 12, and 14) exceeded a two-point LOD score of 1.0 under the affecteds-only autosomal dominant model or affected sibpair model. As we previously reported the fine-mapping effort on 12p showing modest evidence of linkage, we focused our fine-mapping efforts on two other candidate regions in the current report, namely 10q and 18q. We added 31 family members and eight additional Caribbean Hispanic families to fine map 10q and 18q. With additional microsatellite markers, the evidence for linkage for 18q strengthened near 112 cM, where the two-point LOD score for D18S541 was 3.37 and the highest NPL score in that region was 3.65 (P=0.000177). This narrow region contains a small number of genes expressed in the brain. However, at 10q (134-138 cM), the NPL score decreased from 3.15 (P=0.000486) to 2.1 (P=0.0218), but two broad peaks remained overlapping with previously reported peaks. Our results provide modest support for linkage on 10q and 12p in this cohort of Caribbean Hispanic families with familial Alzheimer's disease, and strong evidence for a new locus on 18

Proyecto de investigación : acción educativa y promoción de lactancia materna

Versión en inglés disponible en la Biblioteca Digital del IDRC: Investigation project : educational action and promotion of maternal nursin

Investigation project : educational action and promotion of maternal nursing

Spanish version available in IDRC Digital Library: Proyecto de investigación : acción educativa y promoción de lactancia matern

Familial Alzheimer Disease Among Caribbean Hispanics: A Reexamination of Its Association With APOE

Objectives: To reexamine the association between the apolipoprotein E ϵ4 allele (APOE ϵ4) and familial Alzheimer disease (AD), and to search for novel genes that may be associated with susceptibility in Caribbean Hispanic families with a history of AD. Methods: Families were identified in Caribbean Hispanic communities in the greater New York City area, the Dominican Republic, and Puerto Rico. Each family in the study cohort included at least 2 living relatives with a history of dementia. All family members underwent neuropsychological testing and medical and neurological examinations to establish the presence or absence of dementia and to specify the type of dementia. Results: Over a 2½-year period, 203 families were identified. Of these, 19 families had at least 1 family member with onset of dementia before age 55 years, with 8 of the 19 families showing an association with a previously unreported presenilin mutation. Multiple cases of AD were identified in 29 families. Overall, there were 236 affected sibling pairs with AD available for analysis. The average age at onset was 74 years. The presence of APOE ϵ4 was strongly associated with AD. Conclusions: Both early-onset and late-onset familial AD occur in Caribbean Hispanics. In contrast to sporadic AD, late-onset familial AD among Caribbean Hispanics is strongly associated with APOE ϵ4. Future attempts to identify additional susceptibility genes should consider the effects of APOE ϵ4. A FAMILY HISTORY of Alzheimer disease (AD) is one of the strongest risk factors for the disease. The lifetime risk of AD for family members of patients approaches 50% in some studies, which suggests an age-dependent autosomal dominant mode of inheritance.1,2 Mutations in genes on chromosomes 1, 14, and 21 are associated with familial early-onset AD, often with an autosomal dominant pattern of inheritance.3,4 However, these genes account for only 10% of all AD. The discovery that a polymorphism in the APOE (apolipoprotein E) gene on chromosome 19 was associated with susceptibility to both sporadic and familial late-onset AD5 led to the search for other potential susceptibility genes. Sites for potential susceptibility genes on chromosome 12 have been identified,6 and, more recently, sites on chromosome 10 have also been identified.7-9 Attempts to confirm the linkage between chromosome 12 and AD have been variable,10-12 and the association with α2-macroglobulin, a candidate gene in the area, has also been inconsistent.13-16 Familial AD may be the result of complex inheritance involving many genes with incomplete penetrance or a combination of genetic and environmental factors. Hispanics are one of the most rapidly increasing ethnic groups in the United States. The elderly Hispanic population is expected to double in the United States by the year 2010 and increase 11-fold by 2050.17 Compared with other ethnic groups, Caribbean Hispanics have an increased prevalence and incidence of AD,18-20 as do Mexican Americans.21 Yet the reason for this increase in disease frequency is unknown. No specific environmental factors have been identified, which suggests a genetic explanation. The association between AD and the APOE ϵ4 allelic polymorphism has been weaker in late-onset AD among Caribbean Hispanics compared with whites in New York City20,22,23 but not in Miami, Fla.24,25 We began the family study not only to identify the chromosomal location of additional susceptibility genes in Caribbean Hispanics, but also to reinvestigate the heterogeneity of the APOE association in this population