[Perinatal outcome and five-year survival in children with prenatal diagnosis of hypoplastic left heart syndrome]. / Evolución perinatal y sobrevida a cinco años en niños con diagnóstico prenatal de síndrome de hipoplasia de ventrículo izquierdo.

Hypoplastic left heart syndrome (HLHS) is a congenital heart disease of low prevalence and high lethality. OBJECTIVE: to determine the perinatal outcome and survival at one and five years of fetuses with a prenatal diagnosis of HLHS. PATIENTS AND METHOD: Prospective cohort study of all the fetuses with HLHS from the Perinatal Reference Center (CERPO) born between January 2008 and December 2017. Demographic and clinical perinatal data were obtained from the CERPO database. At one and five years of age, a telephone survey was conducted to determine the surgical treatment and survival. RESULTS: 1,573 patients were admitted to the CERPO, 899 with congenital heart diseases (CHD), confirming the prenatal diagnosis of HLHS in 7% (110/1,573). The mean gestational age at diagnosis and the median at admission were 26+3 and 32+3 weeks, respectively. 89% were born alive, 90% at term, and 57% delivered by cesarean section. The median birth weight was 3,128 grams. 89% survive the prenatal period, 50% the early neonatal period, 33% the late neonatal period, 19% the first year, and 17% at 5 years. CONCLUSIONS: In this center, the one-year and five-year survival of fetuses with prenatal diagnosis of HLHS was 19% and 17%, respectively. It is important for prenatal counseling to consider publications based on local casuistry, that include patients with prenatal and postnatal diagnoses and those who underwent surgery, in order to provide more precise information to parents.

Effect of melatonin administration on the PER1 and BMAL1 clock genes in patients with Parkinson's disease.

Sleep disorders are a widespread condition in patients with Parkinson's disease (PD), which has been linked to a deregulation of the circadian cycle and therefore of the clock genes. The aim of this study was to evaluate the effect of melatonin (MEL) on the PER1 and BMAL1 clock genes in patients with PD. A double-blind, cross-over, placebo-controlled randomized clinical trial pilot study was conducted in 26 patients with stage 1-3 PD according to the Hoehn & Yahr scale, who received either 25 mg of MEL or a placebo at noon and 30 min before bedtime for three months. The relative expression of the PER1 and BMAL1 genes was measured, as well as the presence of daytime, nocturnal, and global sleepiness, and the progression of PD. The levels of the PER1 and BMAL1 genes at baseline were 0.9 (0.1-3) vs. 0.56 (0.1-2.5), respectively; while after the intervention with MEL or placebo the BMAL1 levels increased to 2.5 (0-3.70) vs. 2.2 (0.10-3.30), respectively (d = 0.387). Fifty percent (50 %) of patients had daytime sleepiness and sixty-five percent (65 %) had abnormal nighttime sleepiness, yet neither group showed changes after the intervention. Patients with PD exhibited an alteration in the levels of the clock genes: MEL increased the levels of BMAL1, but the PER1 levels remained unchanged.

Polyparasitism and zoonotic parasites in dogs from a rural area of the Argentine Chaco.

Dogs play an important role as reservoirs and hosts of multiple pathogens shared with humans and wildlife, which contribute significantly to the global burden of disease. Here, we assessed the occurrence of a broad range of zoonotic and non-zoonotic parasites in dogs from a rural area in the humid Chaco; determined the occurrence of polyparasitism; and explored its association with selected risk factors. In total, 212 dogs were examined serologically to determine Trypanosoma cruzi infection and 152 of them also were examined for Ehrlichia canis, Borrelia bugderfori, Anaplasma phagocitophylum, Dirofilaria immitis and Toxoplasma gondii. Fecal samples from 85 dogs were examined for intestinal parasites. Seventeen parasite species were seen, 77% of which are zoonotic. The most prevalent parasites were Ancylostoma caninum (68.2%), T. gondii (55.3%, first report for dogs in Argentina), Giardia sp. (25.9%), Cryptosporidium sp. (20.0%), T. cruzi (16.5%), trematodes (15.3%) and Toxocara canis (14.1%). Polyparasitism was found in 96% of the dogs, with up to six parasite species in a single dog, and was significantly associated with age of dog but not with host body condition or sex. The most frequent pair of parasites found together were T. gondii-A. caninum (46%), A. caninum-T. cruzi (34%) and T. gondii-T. cruzi (27%). The prevalence of anemia and leukocytosis was significantly higher in dogs showing the worst body condition. Our findings likely reflect structural poverty, poor sanitation and lack of a safe water supply. Importantly, many of the prevalent parasites seen are threats to human health. 243 words.

Absence of the tag polymorphism for the risk haplotype HLA-DR2 for multiple sclerosis in Wixárika subjects from Mexico.

The HLA-DRB1*15:01 allele has a demonstrated risk for the development of multiple sclerosis (MS) in most populations around the world. The single nucleotide polymorphism (SNP) rs3129934 is found in linkage disequilibrium with the risk haplotype formed by the HLA-DRB1*15:01 and HLA-DQB1*06:02 alleles, and it is considered a reliable marker of the presence of this haplotype. Native Americans have a null or low prevalence of MS. In this study, we sought to identify the frequency of rs3129934 in the Wixárika ethnic group as well as in Mestizo (mixed race) patients with MS and in controls from western Mexico. Through real-time polymerase chain reaction (PCR) using TaqMan probes, we analyzed the allele and genotype frequencies of rs3129934 in Mestizo individuals with and without MS and in 73 Wixárika subjects from the state of Jalisco, Mexico. The Wixárika subjects were homozygote for the C allele of rs3129934. The allele and genotype frequency in Mestizos with MS was similar to that of other MS populations with Caucasian ancestry. The absence of the T risk allele rs3129934 (associated with the haplotype HLA-DRB1*15:01, HLA-DQ1*06:02) in this sample of Wixárika subjects is consistent with the unreported MS in this Amerindian group, related to absence of such paramount genetic risk factor.

Osteosíntesis de cadera con clavo centromedular: posición en decúbito lateral, sin mesa de fracturas / Hip osteosynthesis with IM nail: lateral decubitus without fracture table

Resumen: Antecedentes: Las fracturas de cadera han aumentado en las últimas décadas, principalmente en pacientes mayores con osteoporosis. La incidencia llega a ser en algunos países de hasta 250 mil casos nuevos por año, generando costos millonarios para los sistemas de salud, por lo que se debe de considerar como un problema de salud pública. Los pacientes se tratan, de manera tradicional, en posición decúbito supino, con mesa de fracturas, a través de un abordaje lateral. Sin embargo, es importante saber que existen otras técnicas que pueden prescindir de una mesa de fracturas y en una posición diferente. Material y métodos: Mostrar una técnica quirúrgica para el tratamiento de las fracturas transtrocantéricas de cadera en decúbito lateral, sin necesidad de mesa de fracturas y definir sus ventajas e indicaciones precisas. Resultados: Ocho pacientes, cinco mujeres (62.5%) y tres hombres (37.5%). Sangrado promedio de 115 mL y tiempo quirúrgico promedio de 67 minutos. Un paciente con desanclaje del sistema terminó en Girdlestone. No se documentó ninguna complicación neurológica ni infección temprana. Conclusiones: La reducción y fijación de fracturas transtrocantéricas de cadera con clavo centromedular sin mesa de fracturas y en decúbito lateral es factible y con un nivel bajo de complicaciones asociadas.

Abstract: Background: Hip fractures have increased in the last decades, mainly in elderly patients with osteoporosis. The incidence becomes in some countries up to 250 thousand new cases per year, generating millions for health systems costs, so it should be considered a public health problem. They are treated in supine position, with a fracture table, through a lateral approach. However, it is important to know that there are other techniques, which can dispense a table of fractures and in a different position. Material and methods: Show a surgical technique for the treatment of transtrochanteric fractures of hip in lateral decubitus, without a fracture tab le and define its advantages and precise indications. Results: Eight patients, five women (62.5%) and three men (37.5%). Bleeding average 115 cc and average surgical time of 67 minutes. A patient with detachment of the system that ended in Girdlestone. No neurological complications or early infection was documented. Conclusions: The reduction and fixation of transtrochanteric hip fractures with intramedullary nail without fracture tab le and in lateral decubitus is feasible and with a low level of associated complications.

Is the infectiousness of dogs naturally infected with Trypanosoma cruzi associated with poly-parasitism?

Interactions among different species of parasites co-infecting the same host could be synergistic or antagonistic. These interactions may modify both the frequency of infected hosts and their infectiousness, and therefore impact on transmission dynamics. This study determined the infectiousness of Trypanosoma cruzi-seropositive dogs (using xenodiagnosis) and their parasite load (quantified by qPCR), and tested the association between both variables and the presence of concomitant endoparasites. A cross-sectional serosurvey conducted in eight rural villages from Pampa del Indio and neighboring municipalities (northeastern Argentina) detected 32 T. cruzi-seropositive dogs out of 217 individuals examined for infection. Both the infectiousness to the vector Triatoma infestans and parasite load of T. cruzi-seropositive dogs examined were heterogeneous. A statistically significant, nine-fold higher mean infectiousness was registered in T. cruzi-seropositive dogs co-infected with Ancylostoma caninum and a trematode than in T. cruzi-seropositive dogs without these infections. The median parasite load of T. cruzi was also significantly higher in dogs co-infected with these helminths. An opposite trend was observed in T. cruzi-seropositive dogs that were serologically positive to Toxoplasma gondii or Neospora caninum relative to dogs seronegative for these parasites. Using multiple logistic regression analysis with random effects, we found a positive and significant association between the infectiousness of T. cruzi-seropositive dogs and co-infections with A. caninum and a trematode. Our results suggest that co-infections may be a modifier of host infectiousness in dogs naturally infected with T. cruzi.

[Hip osteosynthesis with IM nail: lateral decubitus without fracture table]. / Osteosíntesis de cadera con clavo centromedular: posición en decúbito lateral, sin mesa de fracturas.

BACKGROUND: Hip fractures have increased in the last decades, mainly in elderly patients with osteoporosis. The incidence becomes in some countries up to 250 thousand new cases per year, generating millions for health systems costs, so it should be considered a public health problem. They are treated in supine position, with a fracture table, through a lateral approach. However, it is important to know that there are other techniques, which can dispense a table of fractures and in a different position. MATERIAL AND METHODS: Show a surgical technique for the treatment of transtrochanteric fractures of hip in lateral decubitus, without a fracture tab le and define its advantages and precise indications. RESULTS: Eight patients, five women (62.5%) and three men (37.5%). Bleeding average 115 cc and average surgical time of 67 minutes. A patient with detachment of the system that ended in Girdlestone. No neurological complications or early infection was documented. CONCLUSIONS: The reduction and fixation of transtrochanteric hip fractures with intramedullary nail without fracture tab le and in lateral decubitus is feasible and with a low level of associated complications.

ANTECEDENTES: Las fracturas de cadera han aumentado en las últimas décadas, principalmente en pacientes mayores con osteoporosis. La incidencia llega a ser en algunos países de hasta 250 mil casos nuevos por año, generando costos millonarios para los sistemas de salud, por lo que se debe de considerar como un problema de salud pública. Los pacientes se tratan, de manera tradicional, en posición decúbito supino, con mesa de fracturas, a través de un abordaje lateral. Sin embargo, es importante saber que existen otras técnicas que pueden prescindir de una mesa de fracturas y en una posición diferente. MATERIAL Y MÉTODOS: Mostrar una técnica quirúrgica para el tratamiento de las fracturas transtrocantéricas de cadera en decúbito lateral, sin necesidad de mesa de fracturas y definir sus ventajas e indicaciones precisas. RESULTADOS: Ocho pacientes, cinco mujeres (62.5%) y tres hombres (37.5%). Sangrado promedio de 115 mL y tiempo quirúrgico promedio de 67 minutos. Un paciente con desanclaje del sistema terminó en Girdlestone. No se documentó ninguna complicación neurológica ni infección temprana. CONCLUSIONES: La reducción y fijación de fracturas transtrocantéricas de cadera con clavo centromedular sin mesa de fracturas y en decúbito lateral es factible y con un nivel bajo de complicaciones asociadas.

A comparative study of Trypanosoma cruzi infection in sylvatic mammals from a protected and a disturbed area in the Argentine Chaco.

Understanding the complex epidemiology of Trypanosoma cruzi transmission cycles requires comparative studies in widely different environments. We assessed the occurrence of T. cruzi infection in sylvatic mammals, their infectiousness to the vector, and parasite genotypes in a protected area of the Argentine Chaco, and compared them with information obtained similarly in a nearby disturbed area. A total of 278 mammals from >23 species in the protected area were diagnosed for T. cruzi infection using xenodiagnosis, kDNA-PCR and nuclear satellite DNA-PCR (SAT) from blood samples. The relative abundance and species composition differed substantially between areas. Didelphis albiventris opossums were less abundant in the protected area; had a significantly lower body mass index, and a stage structure biased toward earlier stages. The capture of armadillos was lower in the protected area. The composite prevalence of T. cruzi infection across host species was significantly lower in the protected area (11.1%) than in the disturbed area (22.1%), and heterogeneous across species groups. The prevalence of infection in D. albiventris and Thylamys pusilla opossums was significantly lower in the protected area (nil for D. albiventris), whereas infection in sigmodontine rodents was three times higher in the protected area (17.5 versus 5.7%). Parasite isolates from the two xenodiagnosis-positive mammals (1 Dasypus novemcinctus and 1 Conepatus chinga) were typed as TcIII; both specimens were highly infectious to Triatoma infestans. Fat-tailed opossums, bats and rodents were kDNA-PCR-positive and xenodiagnosis-negative. Desmodus rotundus and Myotis bats were found infected with T. cruzi for the first time in the Gran Chaco.

High levels of Trypanosoma cruzi DNA determined by qPCR and infectiousness to Triatoma infestans support dogs and cats are major sources of parasites for domestic transmission.

The competence of reservoir hosts of vector-borne pathogens is directly linked to its capacity to infect the vector. Domestic dogs and cats are major domestic reservoir hosts of Trypanosoma cruzi, and exhibit a much higher infectiousness to triatomines than seropositive humans. We quantified the concentration of T. cruzi DNA in the peripheral blood of naturally-infected dogs and cats (a surrogate of intensity of parasitemia), and evaluated its association with infectiousness to the vector in a high-risk area of the Argentinean Chaco. To measure infectiousness, 44 infected dogs and 15 infected cats were each exposed to xenodiagnosis with 10-20 uninfected, laboratory-reared Triatoma infestans that blood-fed to repletion and were later individually examined for infection by optical microscopy. Parasite DNA concentration (expressed as equivalent amounts of parasite DNA per mL, Pe/mL) was estimated by real-time PCR amplification of the nuclear satellite DNA. Infectiousness increased steeply with parasite DNA concentration both in dogs and cats. Neither the median parasite load nor the mean infectiousness differed significantly between dogs (8.1Pe/mL and 48%) and cats (9.7Pe/mL and 44%), respectively. The infectiousness of dogs was positively and significantly associated with parasite load and an index of the host's body condition, but not with dog's age, parasite discrete typing unit and exposure to infected bugs in a random-effects multiple logistic regression model. Real-time PCR was more sensitive and less time-consuming than xenodiagnosis, and in conjunction with the body condition index, may be used to identify highly infectious hosts and implement novel control strategies.

Cardiopatías congénitas: diagnóstico prenatal y seguimiento / Congenital heart disease: prenatal diagnosis and follow-up

Objetivo: Valorar la capacidad diagnóstica y el seguimiento de las cardiopatías congénitas con diagnóstico prenatal realizadas en el Centro de Referencia Perinatal Oriente (CERPO). Método: Se analizan todas las cardiopatías congénitas con diagnóstico prenatal que ingresaron al CERPO entre abril 2003 y diciembre de 2011. Se realiza seguimiento postnatal, se evalúa la concordancia entre el diagnóstico pre y postnatal, y se compara el pronóstico con la experiencia previamente reportada en la literatura. Resultados: Se detectaron 568 cardiopatías congénitas, el 53 por ciento correspondían a pacientes referidas desde otras regiones del país. En relación a la edad materna y paterna el 28 por ciento y el 35 por ciento tenían 35 años o más, respectivamente. De las 568 cardiopatías congénitas controladas, el 75 por ciento fueron pesquisadas con la ecocardiografía por visión de 4 cámaras y el 25 por ciento por visión de tractos de salida. La concordancia entre la ecocardiografía prenatal y postnatal fue de 87 por ciento Los diagnósticos más frecuentes correspondieron a comunicación interventricular, síndrome de hipoplasia ventricular izquierdo, arritmias y canal aurículoventricular. Se detectaron 60 cromosomopatías, 8 síndromes genéticos y 145 malformaciones extracardiacas asociadas. Se pudo realizar seguimiento de sobrevida al año en 390 pacientes, la sobrevida global en este grupo (excluidas las aneuploidías incompatibles con la vida) alcanzó un 44 por ciento. Conclusión: Existe una alta tasa de diagnóstico prenatal de cardiopatías congénitas a nivel terciario, con un 87 por ciento de concordancia entre ecocardiografía pre y postnatal. La sobrevida global de pacientes con cardiopatías congénitas fue de 44 por ciento al año de seguimiento. Por las características territoriales de nuestro país debiera contarse con más centros de referencia perinatal, al menos en las zonas norte y sur del país.

Objective: To evaluate the diagnostic and follow-up congenital heart disease with prenatal diagnosis performed in the Centro de Referencia Perinatal Oriente (CERPO). Method: We analyzed all the congenital heart disease with prenatal diagnosis admitted to CERPO between April 2003 and December 2011. Postnatal follow-up is performed, evaluating the correlation between pre and postnatal diagnosis and prognosis compared with the experience previously reported in the literature. Results: We detected 568 congenital heart diseases of which 53 percent were patients referred from other regions of the country. In relation to maternal and paternal age, 28 percent and 35 percent were 35 years or older, respectively. From 568 controlled congenital heart diseases, 75 percent could be researched to ultrasound echocardiography 4-chamber view and 25 percent per-view outflow tracts. The correlation between prenatal and postnatal echocardiography in this series was 87 percent. The most frequent diagnosis was interventricular communication, hypoplastic left heart syndrome, arrhythmias and atrioventricular canal. In this series we detected 60 chromosomal, 8 genetic syndromes and 145 extracardiac malformations. Follow-up could be performed one year survival in 390 patients, overall survival in this group (excluding aneuploidies with life incompatibility) reached 44 percent. Conclusion: There is a high rate of prenatal diagnosis of congenital heart disease at the tertiary level, with 87 percent concordance between pre-and postnatal echocardiography. Overall survival of patients with congenital heart disease is 44 percent at one year. For the territorial characteristics of our country should be counted more perinatal referral centers, at least in the north and south.

Detection of Trypanosoma cruzi infection in naturally infected dogs and cats using serological, parasitological and molecular methods.

Domestic dogs and cats are major domestic reservoir hosts of Trypanosoma cruzi and a risk factor for parasite transmission. In this study we assessed the relative performance of a polymerase chain reaction assay targeted to minicircle DNA (kDNA-PCR) in reference to conventional serological tests, a rapid dipstick test and xenodiagnosis to detect T. cruzi infection in dogs and cats from an endemic rural area in northeastern Argentina. A total of 43 dogs and 13 cats seropositive for T. cruzi by an immunosorbent assay (ELISA) and an indirect hemagglutination assay (IHA), which had been examined by xenodiagnosis, were also tested by kDNA-PCR. kDNA-PCR was nearly as sensitive as xenodiagnosis for detecting T. cruzi-infectious dogs and cats. kDNA-PCR was slightly more sensitive than xenodiagnosis in seropositive dogs (91% versus 86%, respectively) and cats (77% against 54%, respectively), but failed to detect all of the seropositive individuals. ELISA and IHA detected all xenodiagnosis-positive dogs and both outcomes largely agreed (kappa coefficient, κ=0.92), whereas both assays failed to detect all of the xenodiagnosis-positive cats and their agreement was moderate (κ=0.68). In dogs, the sensitivity of the dipstick test was 95% and agreed closely with the outcome of conventional serological tests (κ=0.82). The high sensitivity of kDNA-PCR to detect T. cruzi infections in naturally infected dogs and cats supports its application as a diagnostic tool complementary to serology and may replace the use of xenodiagnosis or hemoculture.

Discrete typing units of Trypanosoma cruzi identified in rural dogs and cats in the humid Argentinean Chaco.

The discrete typing units (DTUs) of Trypanosoma cruzi that infect domestic dogs and cats have rarely been studied. With this purpose we conducted a cross-sectional xenodiagnostic survey of dog and cat populations residing in 2 infested rural villages in Pampa del Indio, in the humid Argentine Chaco. Parasites were isolated by culture from 44 dogs and 12 cats with a positive xenodiagnosis. DTUs were identified from parasite culture samples using a strategy based on multiple polymerase-chain reactions. TcVI was identified in 37 of 44 dogs and in 10 of 12 cats, whereas TcV was identified in 5 dogs and in 2 cats -a new finding for cats. No mixed infections were detected. The occurrence of 2 dogs infected with TcIII -classically found in armadillos- suggests a probable link with the local sylvatic transmission cycle involving Dasypus novemcinctus armadillos and a potential risk of human infection with TcIII. Our study reinforces the importance of dogs and cats as domestic reservoir hosts and sources of various DTUs infecting humans, and suggests a link between dogs and the sylvatic transmission cycle of TcIII.

The sylvatic transmission cycle of Trypanosoma cruzi in a rural area in the humid Chaco of Argentina.

Little is known about the sylvatic transmission cycle of Trypanosoma cruzi in the Gran Chaco ecoregion. We conducted surveys to identify the main sylvatic hosts of T. cruzi, parasite discrete typing units and vector species involved in Pampa del Indio, a rural area in the humid Argentinean Chaco. A total of 44 mammals from 14 species were captured and examined for infection by xenodiagnosis and polymerase chain reaction amplification of the hyper-variable region of kinetoplast DNA minicircles of T. cruzi (kDNA-PCR). Ten (22.7%) mammals were positive by xenodiagnosis or kDNA-PCR. Four of 11 (36%) Didelphis albiventris (white-eared opossums) and six of nine (67%) Dasypus novemcinctus (nine-banded armadillos) were positive by xenodiagnosis and or kDNA-PCR. Rodents, other armadillo species, felids, crab-eating raccoons, hares and rabbits were not infected. Positive animals were highly infectious to the bugs that fed upon them as determined by xenodiagnosis. All positive opossums were infected with T. cruzi I and all positive nine-banded armadillos with T. cruzi III. Extensive searches in sylvatic habitats using 718 Noireau trap-nights only yielded Triatoma sordida whereas no bug was collected in 26 light-trap nights. Four armadillos or opossums fitted with a spool-and-line device were successfully tracked to their refuges; only one Panstrongylus geniculatus was found in an armadillo burrow. No sylvatic triatomine was infected with T. cruzi by microscopical examination or kDNA-PCR. Our results indicate that two independent sylvatic transmission cycles of T. cruzi occur in the humid Chaco. The putative vectors of both cycles need to be identified conclusively.

Valoración del timo fetal a través de la relación timo-tórax / Fetal thymus evaluation by thymus-torax ratio

Introduction: Recent advances in ultrasound technology have made possible an easy and accurate visualization of the fetal thymus in vast majority of cases. On ultrasound, thymus is visualized in the upper mediastinum, between sternum and great vessels. Despite several previous papers published, there is no consensus regarding a clear correlation between these measurements and thymus hypoplasia. Nowadays thymus evaluation is not mandatory in routine ultrasound examinations, however at referral centers its evaluation could help to identify patients with high risk for microdeletion 22 q11. Recently it has been proposed a new method to assess the thymus; the “thymus-torax ratio”, this has been proven to be altered in 95 percent of fetuses with congenital heart disease and microdeletion 22q11. This study describes the experience at our unit using this new tool as part of routine fetal examinations. Materials and methods: A descriptive study, 44 ultrasound examinations between 19 and 38 weeks of gestation, in which thymus-thoracic ratio was measured as part of the routine fetal examination at this perinatal referral center. Objective: Determinate the factibility of measurement of the thymus- thoracic ratio in routine fetal ultrasound examinations. Results: The thymus- thoracic ratio was measured successfully at our routine fetal ultrasound examinations, results were similar to those previously reported. The ratio was not affected by fetal or maternal pathology and gestational age. Discussion: The thymus thorax ratio appears to be constant through gestation despite of maternal and fetal pathologies; it seems to have advantages over other types of measurements described in previous publications. However, due to small number of cases we suggest a new analysis with a larger number of patients.

Avances recientes en ultrasonido han permitido una visualización fácil y certera del timo fetal en la gran mayoría de los fetos examinados. En el examen de ultrasonido, el timo se encuentra en el mediastino superior, entre el esternón y los grandes vasos. A pesar de numerosas publicaciones, actualmente no existe consenso respecto de las técnicas utilizadas para realizar estas mediciones y el diagnostico de hipoplasia de timo. La evaluación del timo fetal no forma parte del examen de ultrasonido de rutina. Sin embargo, en centros de referencia pudiera ser de utilidad para identificar los pacientes con alto riesgo de presentar microdelecion 22q11. Recientemente se ha propuesto una nueva forma de evaluar el timo a través de la relación timo- tórax, la cual ha probado estar alterada en el 95 por ciento de los fetos con cardiopatía congénita y microdelecion 22q11. Este estudio describe nuestra experiencia en la incorporación de esta nueva herramienta en el examen de rutina fetal. Materiales y métodos: Estudio descriptivo, 44 reportes de exámenes ultrasonográficos realizados entre las 19 y 38 semanas de gestación, en los cuales se realizó la medición de la relación timo- tórax como parte del examen fetal de rutina, en este centro de referencia perinatal. Objetivo: Describir la experiencia de la unidad en la medición de la relación timo- tórax en el examen ultrasonografico fetal de rutina. Resultados: La medición de la relación timo- tórax fue incorporada de manera exitosa como parte del protocolo estándar de mediciones realizado en la unidad, con resultados similares a los reportados previamente. La relación no fue afectada por patología fetal o materna ni edad gestacional. Discusión: la relación timo- tórax parece ser constante a través de la gestación a pesar de la presencia de patología materna o fetal, siendo una medida que aparentemente provee ventajas sobre las otras descritas previamente en la literatura. Sin embargo debido al tamaño de la muestra...

Cierre percutáneo del ductus arterioso con coils: diagnóstico y seguimiento ecocardiográfico a largo plazo / Percutaneous closure of arterious ductus with coils: echocardiographic diagnosis and follow up

Objectives: We report about the percutaneous closure with coils of small and medium sized ductus arteriosus, and their long term follow up in a single center. Patients and Method: This is a retrospective study, including 291 patients in an intention to treat basis, between 1998 and 2006. Results: The median age and weight at time of procedure was 45 months and 16,7 Kg respectively. The immediate rate of occlusion was 82 percent and 91,3 percent at 1 year follow up. Up to 98 percent of cases needed just 1 coil to close the defect. The result was considered sub optimal in 33 cases (11,6 percent) almost half of this group was evaluated as having mild residual shunt at one year, all of them closed with additional coils percutaneously. Only the size of ductus was related to this type of result (>3 mm). Conclusions: The percutaneous closure with coils, is a highly eficacious alternative, for treatment of ductus arteriosus up to 2,5-3 mm, as minor diameter, with a very convenient cost/benefit rate. Beyond these limits the advantages disappear, and alternative devices become the treatment of choice.

Objetivos: Se reporta sobre el cierre percutáneo de ductus pequeños y medianos con coils en un solo centro, su diagnóstico y seguimiento ecocardiográfico a largo plazo. Pacientes y método: Se realizó un estudio retrospectivo sobre 291 pacientes portadores de ductus arterioso diagnosticado ecocardiográficamente en quienes se intentó el cierre percutáneo entre 1998y 2006. Resultados: La mediana de edad y peso de los pacientes al momento del procedimiento fue de 45 meses y 16,7 kg. La tasa de oclusión inmediata fue de 82 por ciento y de 91,3 por ciento a un año. En el 98 por ciento de los casos se utilizó un solo coil para cerrar el defecto. El resultado fue sub óptimo en 33 casos (11,6 por ciento) siendo casi la mitad de estos casos correspondientes a shunt residual leve a un año, todos cerrados con coil en procedimiento percutáneo adicional. Sólo el tamaño del ductus estuvo relacionado con este resultado (>3mm). Conclusiones: El cierre con coils sigue siendo un tratamiento altamente eficaz para ductus de hasta 2,5-3 mm de diámetro menor, con una relación costo/beneficio muy favorable al compararse con dispositivos alternativos. Más allá de estos límites las ventajas mencionadas tienden a disminuir en forma considerable y se hace discutible su uso.

Detección prenatal de cardiopatías congénitas / Prenatal detection of congenital heart disease

Las cardiopatías congénitas son las anomalías mayores más frecuentes al nacer. Es probable que uno de cada 100 recién nacidos vivos sea portador de algún defecto de su corazón. Cerca de un tercio de estos son defectos graves, que comprometerán la capacidad funcional y podrán ocasionar incluso la muerte. Algunas de las anomalías incluidas en este grupo se benefician con el diagnóstico prenatal, al permitir programar un manejo adecuado y oportuno inmediatamente después del parto. A pesar del incremento sostenido en la pesquisa prenatal de estos defectos, la detección es menor que lo que la prevalencia e impacto de estas malformaciones amerita. El corazón fetal es un órgano complejo de evaluar. En el transcurso de este articulo, se enumerarán los métodos más apropiados, vigentes y consensuados para la detección prenatal de cardiopatías congénitas, así como también sus limitaciones (1). Estos permitirán programar de manera adecuada el control ecográfico de las gestantes de bajo y alto riesgo de dar a luz un recién nacido con una malformación de su corazón.

Congenital heart diseases are the most frequent major defect at birth and the major cause of infant death due to congenital anomalies. Prenatal diagnosis of some heart defects improves early neonatal management and thus reduces mortality and morbidity rates. However, antental diagnosis remains problematic. The present article analyze the current guidelines to screen the fetal heart in low and high risk pregnancies and the present chilean politics of health regarding confirmation of diagnosis during the perinatal period.

Estenosis aórtica crítica: presentación de un caso clínico y revisión de la literatura / Severe aortic valve stenosis: a case report and literature review

We report case of prenatal diagnosis of critical aortic valve stenosis. In a 21 year old mother, it was suspected a complex congenital heart disease at 39 weeks gestation. She was derivated to Santiago and prenatal evaluation revealed critical aortic valve stenosis with left ventricular fibroelastosis and a restrictive foramen ovale. Elective caesarean section was performed at 39 1/2 weeks of gestation. The newborn, male, 2.890 grams of weight, was managed with prostaglandinsand dopamine. The second day of life he was transferred to the Cardiovascular Intensive Care Unit of Doctor Luis Calvo Mackenna Hospital for resolution. After his postnatal evaluation, it was concluded that it was capable of biventricular repair, as balloon valvuloplasty, the therapy of choice. After the suspension of prostaglandins, he developed clinical deterioration with systodiastolic dysfunction of the left ventricle and pulmonary hypertension. It was decided to perform Norwood-Sano 10 days after angioplasty. The patient evolved favourably, being transferred to his hospital of origin at 43 days of life. In this article we will make a full review of the epidemiology, diagnosis and management of pre and postnatal critical aortic valve stenosis.

Se presenta un caso clínico de diagnóstico prenatal de estenosis aórtica crítica. A las 39 semanas de gestación se sospecha cardiopatía congénita compleja en una paciente de 21 años, siendo derivada a Santiago. La evaluación prenatal revela de estenosis aórtica crítica con fibroelastosis del ventrículo izquierdo y foramen oval restrictivo. Se realiza cesárea electiva a las 39 1/2 semanas de edad gestacional. Nace un recién nacido de 2.890 g, sexo masculino. Se inicia tratamiento con prostaglandinas y dopamina. Al segundo día de vida se traslada a Unidad de Cuidados Intensivos Cardiovascular del Hospital Doctor Luis Calvo Mackenna para su resolución. Posterior a su evaluación postnatal, se concluye que es susceptible de reparo biventricular, siendo la valvuloplastía con balón, la terapia de elección. Posterior a la suspensión de la prostaglandina, se produce deterioro clínico asociado a disfunción sistodiastólica del ventrículo izquierdo e hipertensión pulmonar. Se decide realizar cirugía de Norwood-Sano a los 10 días postangioplastía. Evoluciona en forma favorable, siendo trasladado a su hospital de origen a los 43 días de vida. En el presente artículo se hará una revisión completa de la epidemiología, diagnóstico y manejo pre y postnatal de la estenosis aórtica crítica.

Colecistitis aguda asociada a sepsis por Staphylococcus aureus en un recién nacido / Acute cholecystitis and Staphylococcus aureus sepsis-related in a newborn

Introducción: La colecistitis aguda es una patología muy infrecuente en el periodo neonatal. Objetivo: Presentar el caso de un recién nacido con una colecistitis aguda asociada a una sepsis por Staphylococcus aureus. Caso clínico: Recién nacido de término, de sexo femenino, de 23 días de vida, que presentó signos clínicos de septicemia, asociado a un abdomen agudo que requirió una laparotomía exploradora encontrándose una vesícula hidrópica e inflamada que requirió de una colecistectomía, la biopsia confirmó una colecistitis aguda. Conclusión: La colecistitis aguda neonatal es una patología muy infrecuente. Clínicamente se presenta como un abdomen agudo o una masa abdominal palpable. El diagnóstico se sospecha con la ecografía y se confirma por laparotomía.

Cardiopatías congénitas con diagnóstico prenatal: seguimiento / Congenital heart disease with prenatal diagnosis: follow-up

Objetivo: Seguimiento de las cardiopatías congénitas con diagnóstico prenatal. Método: Se analizan todas las cardiopatías con diagnóstico prenatal que ingresaron al Centro de Referencia Perinatal Oriente (CERPO) entre Abril 2003 y Junio 2005. Se realiza seguimiento postnatal y se compara el pronóstico con la experiencia previamente reportada en la literatura. Resultados: Se detectaron 94 cardiopatías congénitas de las cuales 76,6 por ciento correspondían a pacientes referidas desde otras regiones del país. La edad gestacional promedio al diagnóstico fue de 32 semanas. La principal causa de derivación correspondió a sospecha en examen obstétrico ultrasonográfico de rutina (72 por ciento de los casos). En esta serie se detectaron 10 anomalías cromosómicas y 14 casos presentaron malformaciones extracardíacas asociadas. Los diagnósticos más frecuentes correspondieron a síndrome hipoplasia ventricular izquierdo y ventrículo único, cardiopatías de difícil tratamiento y elevada mortalidad. La sobrevida global alcanzó un 46,1 por ciento, cifra similar a estudios internacionales previamente reportados. La sobrevida fue mejor en pacientes con malformaciones cardíacas únicas, que en pacientes que presentaron malformaciones más severas. Conclusión: Es importante mejorar el diagnóstico de cardiopatías ductus dependientes aisladas para mejorar la sobrevida en estos grupos de pacientes.

Bloqueo atrioventricular: manejo perinatal y seguimiento / Atrioventricular block: perinatal management and follow-up

Presentamos una revisión de 8 casos de bloqueo atrioventricular (BAV) congénito diagnosticados prenatalmente, controlados en el Centro de Referencia Perinatal Oriente (CERPO) entre 2003-2006. Entre las 8 gestantes portadoras de fetos con BAV encontramos tres casos asociados a malformación cardíaca y cinco casos aislados. Las cardiopatías estructurales corresponden a un caso de síndrome de hipoplasia ventricular izquierdo (SHVI) y dos casos a transposición de grandes arterias corregida (L-TGA). Entre los bloqueos aislados hubo un único caso con estudio serológico positivo para autoanticuerpos maternos anti-Ro y anti-La. Se diagnosticaron seis BAV completos y dos BAV de 2º grado (tipo Mobitz II). Un caso recibió terapia fetal transplacentaria con dexametasona, manteniéndose en bloqueo de 2º grado hasta el parto. Seis de las ocho pacientes fueron derivadas desde otras regiones al CERPO. El resultado perinatal fue satisfactorio, salvo una muerte fetal ocurrida en un BAV completo asociado a SHVI y presencia de hidrops fetal. Todos los casos necesitaron implantación de marcapasos, entre el primer día y hasta los 10 meses de vida. Hubo un caso de mortalidad postneonatal por sepsis, posterior a la corrección quirúrgica de una comunicación interventricular. El seguimiento postnatal fluctúa entre los 3 meses y 1 año 8 meses de vida. Todos los pacientes asisten a control periódico en cardiología infantil, se encuentran en buenas condiciones y sin secuelas.