Caracterización epidemiológica y clínica de pacientes con retinopatía diabética / Clinical and epidemiological characterization of diabetic retinopathy patients

Objetivo: Caracterizar los pacientes con retinopatía diabética desde el punto de vista epidemiológico y clínico. Métodos: Se realizó un estudio descriptivo y transversal en el Centro Oftalmológico de Santiago de Cuba, desde octubre del año 2017 hasta octubre de 2019, en una población de 42 pacientes diabéticos tipo 2. Resultados: Predominaron los pacientes con tiempo de diabetes mellitus mayor de 10 años, y edades de 55 años o más (60,0 por ciento); el mayor porcentaje correspondió al color de piel negra (66,7 por ciento ); la agudeza visual mayor de 0,6 se presentó en el 49,4 por ciento de los casos; la retinopatía diabética proliferativa fue la más presentada con 55,9 por ciento. Hubo predominio, además, de los valores de hemoglobina glicosilada por encima del 7 por ciento y de la normoalbuminuria con 46,7 y 66,7 por ciento, respectivamente, en ambos grupos. Conclusiones: Los valores elevados de hemoglobina glicosilada y la normoalbuminuria se asocian, desde el punto de vista clínico, a la retinopatía diabética proliferativa(AU)

Objective: Characterize diabetic retinopathy patients from a clinical and epidemiological point of view. Methods: A descriptive cross-sectional study was conducted of 42 type 2 diabetic patients at Santiago de Cuba Ophthalmology Center from October 2017 to October 2019. Results: A predominance was found of patients who had had diabetes mellitus for more than 10 years and were aged 55 years or over (60.0 percent); black skin color prevailed with 66.7 percent; visual acuity above 0.6 was present in 49.4 percent of the cases, and proliferative diabetic retinopathy was the most common type (55.9 percent). In both groups glycosylated hemoglobin values above 7 percent prevailed, whereas normal albuminuria was predominant with 46.7 percent and 66.7 percent, respectively. Conclusions: High glycosylated hemoglobin and normal albuminuria values are clinically associated to proliferative diabetic retinopathy(AU)

Severe haemolysis after transcatheter coil occlusion of a presistent arterial duct: a Review of three cases

Seventy five cases of persistent arterial duct underwent transcatheter occlusion using Cook's detachable coils at the Pediatric Cardiology department of the AFIC/NIHD, Rawalpindi Pakistan from April 1996 to Dec 2000. Three cases amongst these developed severe hemolysis. The coils were snared, using Microvena snares and the haemolysis settled instantaneously

Prenatal diagnosis for beta-thalassemia syndromes using HRP-labeled oligonucleotide probes at Siriraj Hospital.

Characterization of the molecular defect of beta-thalassemia in Thais has enabled us to establish prenatal diagnosis for homozygous beta-thalassemia and beta-thalassemia/Hb E. The nature of the beta-thalassemia mutation of each high risk couple or of the previous affected child was firstly identified after counseling. Detection of beta-thalassemia mutations was performed by dot-blot hybridization of the amplified DNA with a set of HRP-labeled ASO-probes specific for the common mutations. If the mutation could be characterized, prenatal diagnosis (PND) would be performed by using DNA extracted either from the chorionic villi (CVS) or amniotic fluid fibroblast in the first trimester of pregnancy or from fetal blood in the second trimester. DNA analysis was carried out in 23 couples at risk of having homozygous beta-thalassemia and 88 couples at risk for beta-thalassemia/Hb E. However, PND was performed by this technique in 22 pregnancies from 21 couples at risk of having homozygous beta-thalassemia children and 86 pregnancies from 71 couples at risk for beta-thalassemia/Hb E; 9 couples underwent more than one prenatal diagnosis. The results showed that, although there are more than 20 beta-thalassemia mutations in the Thai population, PND by DNA analysis could be carried out in more than 95% of the risk couples by using beta(E) and 10 different HRP-labeled ASO probes. This technique was simple, economic and avoided the use of radioactive isotope.

A simple non radioactive method for detecting beta-thalassemia/hbe disease: application to prenatal diagnosis.

We have developed allele specific polymerase chain reaction (ASPCR) that allows rapid screening of the beta E-globin and common beta-thalassemia genes in Thailand. These non-radioactive methods are based on the amplification by the polymerase chain reaction of the beta E and beta-thalassemia specific DNA fragments using specific primers. With this approach, both heterozygote and homozygote for the disease could readily be identified on agarose gel electrophoresis of the amplified DNA. We have applied the method for a prenatal diagnosis of beta-thalassemia/HbE disease in a Thai family at the second trimester of pregnancy. The result obtained was comparable to that of conventional dot blot hybridization using radioactive probes. The simplicity, accuracy and non isotopic of the approach make it a highly promising method for a carrier screening and a prenatal diagnosis of this common disorder.

Prenatal diagnosis of thalassemia and hemoglobinopathies in Thailand: experience from 100 pregnancies.

In this review, we describe a simple strategy to detect the three severe thalassemic diseases commonly found in Thailand. Hb Bart's hydrops fetalis can be detected unambiguously by ultrasonography at 18-20 weeks of gestation or detected early in the first trimester by the gene amplification technique. Prenatal diagnosis for homozygous beta-thalassemia is better performed in the second trimester by in vitro protein synthesis. This is because the molecular defects of some beta-thalassemias are still unknown and homozygosity of the same mutation is low. In contrast, beta-thalassemia/Hb E is easily detected, in the first trimester, by direct visualization on electrophoresis or by dot blot analysis of enzymatically amplified DNA with a set of nonradioactively labeled oligonucleotide probes complementary to the most common mutations. We also found that the beta/gamma synthesis ratio in homozygous Hb E is similar to that of beta-thalassemia/Hb E and DNA analysis is the only method to distinguish these two conditions in the couple at risk of having either beta-thalassemia/Hb E or asymptomatic homozygous Hb E. In 100 pregnancies studied, the diagnoses were achieved in 96 pregnancies. Complications leading to fetal loss were found in 3 pregnancies: one woman developed amnionitis after fetal blood sampling; one had amniotic fluid leakage after the biopsy, and the third, carrying a normal fetus, aborted 10 days after fetal blood sampling with urinary tract infection and high fever. However, these figures are compatible with other reports and the risks are significantly lower than that of thalassemic disease the fetus is facing. One case of beta-thalassemia/Hb E was incorrectly diagnosed prenatally as being Hb E trait. In twenty-five pregnancies (25%) prenatally diagnosed to carry affected fetuses it was decided to have abortion. This study shows the feasibility of prenatal diagnosis for thalassemic diseases in Thailand which, in addition to screening and genetic counseling, can support prevention and control programs for thalassemia.

Sobrevida y mortalidad en pacientes con insuficiencia renal aguda: nuestra experiencia en el Hospital José María Cullen de Santa Fe / Survival and mortality of the patients with acute kidney failure: our experience to Hospital José María Cullen, Santa Fe

Se analizaron 39 pacientes consecutivos con IRA que requirieron hemodiálisis. Se observó su evolución teniendo en cuenta: situaciones clínicas, variables demográficas, severidad de la IRA, agresiones agudas, factores de riesgos predisponentes y complicaciones. Se observó una mortalidad global del 33,3%, una altísima incidencia de absortos sépticos (41%) con una mortalidad elevada en este subgrupo (37,5%) y una escasa incidencia de IRA de causas puramente obstétricas con mortalidad nula. Se observó una relativa benignidad de la IRA no oligúrica. Se encontró que el número de agresiones agudas influyen negativamente en la evolución, probablemente a través de un efecto aditivo en la severidad de la IRA. Se confirmó que la enfermedad renal preexistente es un importante factor de riesgo para el desarrollo de la IRA y que no tiene influencia negativa en el pronóstico. Se encontró una correlación positiva entre la mortalidad y el número de complicaciones. Se concluye que la mortalidad global no es un buen parámetro para valorar la atención de los pacientes con IRA; sí, en cambio, sería la mortalidad según subgrupos bien definidos en cuanto a la situación clínica