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1.
Rev. colomb. gastroenterol ; 31(2): 96-101, abr.-jun. 2016. ilus, tab
Artículo en Español | LILACS | ID: lil-791305

RESUMEN

Introducción: el trasplante combinado de hígado y riñón (CLK) ha mostrado ser una buena alternativa para pacientes con diagnóstico concomitante de enfermedad renal crónica (ERC) y enfermedad hepática terminal. Algunos estudios han mostrado además un beneficio inmunológico del trasplante combinado, con disminución de la tasa de rechazo del injerto renal. Objetivo: describir las indicaciones y los resultados clínicos en receptores de trasplante CLK en un hospital de alta complejidad. Materiales y métodos: se seleccionaron los pacientes con trasplante CLK del registro institucional de trasplante (TRENAL) entre 2000 y 2011. Se describieron las características demográficas y clínicas y se estimó la sobrevida de los pacientes y de los injertos con el método Kaplan Meier. Resultados: en un período de 11 años, se realizaron 16 trasplantes CLK. Esto corresponde al 1.51% de los trasplantes de riñón y al 3.48% de los trasplantes de hígado hechos en la institución durante el mismo periodo de tiempo. La mayoría de los receptores fueron de sexo masculino (10/16). La mediana de la edad fue 56.5 años. La mediana del MELD fue de 17 (RIQ: 12.5-20.5, Rango 8-24). El diagnóstico hepático más frecuente fue cirrosis por NASH (4/16). Todos los pacientes tenían diagnóstico de ERC, en 4 casos secundaria a diabetes mellitus. Las indicaciones más comunes del trasplante fueron ascitis de difícil manejo, encefalopatía recurrente y desnutrición. El tiempo promedio de isquemia en frío del hígado fue de 7,3 horas, y del riñón 9,6 horas. La sobrevida de los pacientes y de los injertos hepático y renal fue de 87,5% al año y 67,3% a los 5 años. Cuatro pacientes murieron, 2 casos como consecuencia de sepsis y otros 2 por malignidad. Conclusión: el trasplante CLK en la Fundación Valle del Lili tiene resultados clínicos satisfactorios y comparables a los reportados en otros centros.


Introduction: Combined liver and kidney transplantation (CLK) has been shown to be a good alternative for patients with concomitant diagnosis of chronic kidney disease (CKD) and end-stage liver disease. Some studies have also shown immunological benefits from combined transplantation with decreased rates of kidney graft rejection. Objective: The objective of this study was to describe the indications and clinical outcomes of CLK transplant recipients in a highly complex hospital. Materials and Methods: CLK transplant patients were selected from the institutional transplant registry (Trenal) from 2000 to 2011. Demographic and clinical characteristics were described and survival of patients and grafts were estimated with the Kaplan-Meier method. Results: Over a period of 11 years, 16 CLK transplants were performed. This was 1.51% of kidney transplants and 3.48% of liver transplants done in the institution during this period. Most recipients were male (10/16). The median age was 56.5 years. The median MELD was 17 (IQR: 12.5 to 20.5, range: 8 to 24). The most frequent diagnosis was liver cirrhosis due to NASH (4/16). All patients had been diagnosed with CKD: four cases were secondary to diabetes mellitus. The most common indications for transplants were difficult to manage ascites, recurrent encephalopathy and malnutrition. The average liver cold ischemia time was 7.3 hours, and the average kidney cold ischemia time 9.6 hours. The five-year liver graft survival rate was 87.5%, and the five-year kidney graft survival rate was 67.3%. Four patients died: two as the result of sepsis and two as the result of malignancy. Conclusion: CLK transplantation results at the Fundación Valle del Lili have been satisfactory and comparable to those reported by other transplant centers.


Asunto(s)
Humanos , Masculino , Femenino , Preescolar , Niño , Adulto , Persona de Mediana Edad , Anciano , Rechazo de Injerto , Trasplante de Riñón , Trasplante de Hígado , Sobrevida , Enfermedad Hepática en Estado Terminal , Insuficiencia Renal Crónica
2.
Am J Med Genet ; 113(1): 47-51, 2002 Nov 15.
Artículo en Inglés | MEDLINE | ID: mdl-12400065

RESUMEN

We report the genetic characterization of one family with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) type 1 and two families with BPES type 2 from a historically isolated population in northwest Colombia. Linkage and haplotype analyses indicate that BPES in these families is linked to 3q23. Mutation screening of FOXL2 in the family with BPES type 1 revealed a novel 394C --> T nonsense mutation which deletes the forkhead DNA binding domain. The two families with BPES type 2 both carry an in-frame 30 bp duplication that leads to the elongation of a polyalanine tract. This duplication has been previously reported in Europe, where recurrent mutation has been demonstrated in unrelated familial and sporadic BPES cases. The recurrent nature of this duplication seems to relate to the secondary structure of this DNA region. The genotype-phenotype correlation seen in the Colombian families is consistent with the recent proposal that BPES type 1 is caused by truncating mutations leading to haploinsufficiency, while BPES type 2 is due to mutations generating elongated protein products.


Asunto(s)
Blefarofimosis/genética , Blefaroptosis/genética , Cromosomas Humanos Par 3 , Proteínas de Unión al ADN/genética , Párpados/anomalías , Mutación , Factores de Transcripción/genética , Colombia/etnología , Femenino , Proteína Forkhead Box L2 , Factores de Transcripción Forkhead , Ligamiento Genético , Marcadores Genéticos , Haplotipos , Humanos , Masculino , Linaje
3.
Theriogenology ; 26(3): 267-78, 1986 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-16726192

RESUMEN

The adaptation of ultrasound scanning to the diagnosis of pregnancy and other physiological conditions in swine was examined. The scanner was equipped with a 3.5-MHz transducer. The probe was placed against the skin in the area of the abdominal flank of a standing sow and moved between the first and third posterior teats. The 2,257 sows were all presumed to be pregnant and underwent a single echography examination between 18 and 90 d post-insemination. For pregnant sows, the accuracy rate of diagnosis averaged 98.7 %. The majority of errors were made between 18 and 21 d of pregnancy in sows which subsequently gave birth to fewer than five piglets. This technique allowed us to detect only 54 % of non-pregnant sows. Nevertheless, a high accuracy rate was obtained when examination was performed within 7 d before the return of estrus (80 %). Conditions at the time of the examination were also an important factor. Ultrasound scanning opened up possibilities for observing other conditions such as cystic ovaries and metritis.

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