Prevalence and clinical outcomes of dystrophin-associated dilated cardiomyopathy without severe skeletal myopathy.

AIMS: Dilated cardiomyopathy (DCM) associated with dystrophin gene (DMD) mutations in individuals with mild or absent skeletal myopathy is often indistinguishable from other DCM forms. We sought to describe the phenotype and prognosis of DMD associated DCM in DMD mutation carriers without severe skeletal myopathy. METHODS AND RESULTS: At 26 European centres, we retrospectively collected clinical characteristics and outcomes of 223 DMD mutation carriers (83% male, 33 ± 15 years). A total of 112 individuals (52%) had DCM at first evaluation [n = 85; left ventricular ejection fraction (LVEF) 34 ± 11.2%] or developed DCM (n = 27; LVEF 41.3 ± 7.5%) after a median follow-up of 96 months (interquartile range 5-311 months). DCM penetrance was 45% in carriers older than 40 years. DCM appeared earlier in males and was independent of the type of mutation, presence of skeletal myopathy, or elevated serum creatine kinase levels. Major adverse cardiac events (MACE) occurred in 22% individuals with DCM, 18% developed end-stage heart failure and 9% sudden cardiac death or equivalent. Skeletal myopathy was not associated with survival free of MACE in patients with DCM. Decreased LVEF and increased left ventricular end-diastolic diameter at baseline were associated with MACE. Individuals without DCM had favourable prognosis without MACE or death during follow-up. CONCLUSIONS: DMD-associated DCM without severe skeletal myopathy is characterized by incomplete penetrance but high risk of MACE, including progression to end-stage heart failure and ventricular arrhythmias. DCM onset is the major determinant of prognosis with similar survival regardless of the presence of skeletal myopathy.

Blastocystis spp.: avances, controversias y desafíos futuros / Blastocystis spp.: Advances, controversies and future challenges

Blastocystis spp. es el protista intracelular que se detecta con mayor frecuencia en muestras de materia fecal humana; las tasas de infección pueden superar el 20% en países en vías de desarrollo. El hallazgo de este parásito en heces de diversas especies animales sugiere su potencial zoonótico. La relevancia clínica y el papel patógeno de Blastocystis spp. en el tracto intestinal son inciertos. Varias son las publicaciones que lo reconocen como agente etiológico de desórdenes intestinales como diarrea, enfermedad inflamatoria intestinal y colitis ulcerosa, aunque la patogenicidad de este parásito no ha sido probada. Este amplio rango de respuestas a la infección podría estar relacionado con la diversidad genética de los aislamientos provenientes de hospedadores infectados.

Blastocystis spp. is the most common protozoan detected in human stool samples. In developing countries, infection rates are higher than 20%. The presence of this parasite in the feces of several host species suggests its zoonotic potential. The clinical relevance and the pathogenic role of Blastocystis spp. in the intestinal tract remain unclear. There are several clinical reports that recognize it as the etiologic agent of several intestinal disorders such as diarrhea, inflammatory bowel disease and ulcerative colitis, although the pathogenicity of this parasite has not been proved yet. This wide range of clinical manifestations could be related to the genetic diversity exhibited by this parasite.

[Blastocystis spp.: Advances, controversies and future challenges]. / Blastocystis spp.: avances, controversias y desafíos futuros.

Blastocystis spp. is the most common protozoan detected in human stool samples. In developing countries, infection rates are higher than 20%. The presence of this parasite in the feces of several host species suggests its zoonotic potential. The clinical relevance and the pathogenic role of Blastocystis spp. in the intestinal tract remain unclear. There are several clinical reports that recognize it as the etiologic agent of several intestinal disorders such as diarrhea, inflammatory bowel disease and ulcerative colitis, although the pathogenicity of this parasite has not been proved yet. This wide range of clinical manifestations could be related to the genetic diversity exhibited by this parasite.

Cryptosporidium parvum GP60 subtypes in dairy cattle from Buenos Aires, Argentina.

Cryptosporidium parvum from 73 dairy calves less than two months old from Buenos Aires province (Argentina) were molecularly characterized using sequence analysis of the GP60 gene. Seventy-five sequences were obtained, and seven different subtypes were identified, all belonging to the IIa subtype family. The most common subtypes were IIaA20G1R1 (27/75), IIaA22G1R1 (16/75), and IIaA18G1R1 (13/75). Subtypes IIaA21G1R1, IIaA23G1R1, IIaA16G1R1 and IIaA19G1R1 were found sporadically. Two samples contained mixed infections with IIaA21G1R1 and IIaA22G1R1. A significant association was found between subtypes and geographic location, whereas there was no relation between subtypes and presence of diarrhea. Three of the subtypes found in this study (IIaA16G1R1, IIaA18G1R1, and IIaA19G1R1) were previously identified in humans. These findings suggest that cattle could play an important role in the transmission of cryptosporidiosis to humans in Buenos Aires province.

Experimental infection with Cryptosporidium parvum IIaA21G1R1 subtype in immunosuppressed mice.

Cryptosporidium parvum subtype IIaA21G1R1 oocysts were used to infect dexamethasone immunosuppressed N: NIH Swiss mice. This is the first Cryptosporidium mouse model in which the relationship between infection and apoptosis has been histologically studied at each portion of the gut in order to observe this dynamic in chronic cryptosporidiosis. Histology showed developmental stages in the duodenum, proximal and distal jejunum, ileum, cecum and colon, with the small intestine remaining infected until day 35 post infection. At proximal jejunum an inverse correlation between infection and apoptosis was observed at days 28 and 35 p.i. Data suggests that jejunum could be an interesting place to carry out further studies on the dynamics of Cryptosporidium infection and apoptosis. Based on these findings, this mouse model was useful to evaluate clinical, parasitological and histological aspects of C. parvum subtype IIaA21G1R1 infection, and it will be an appropriate tool to investigate different aspects of Cryptosporidium infection.

Cryptosporidium infection in calves from a rural area of Buenos Aires, Argentina.

Dairy calves less than 1 month of age are commonly infected with Cryptosporidium spp. The objective of the present study was to evaluate the prevalence of Cryptosporidium spp. among dairy calves or=810 oocysts/field. This study shows that Cryptosporidium spp. is one of the causes of calf neonatal diarrhoea in a rural area of Buenos Aires, Argentina. The highest intensity of infection reported for the

Intestinal parasitoses and environmental factors in a rural population of Argentina, 2002-2003.

We evaluate the prevalence of intestinal parasites in 504 people and the degree of association between environmental variables and parasites found in population, soil and water in a rural area of Argentina during 2002-2003. A structured survey was used to evaluate the environmental variables and fecal-human, soil and water samples were analyzed. The prevalence of parasites was 45.4%. Most prevalent protozoa were Blastocystis hominis (27.2%) and Giardia lamblia (6.9%), while the most prevalent helminth was Ascaris lumbricoides (3.8%). The analyzed environmental variables showing association (p < 0.05) with presence of parasites in population were: cardboard-tin or wooden house, dirt floor, home or communal water pump, faucet outside the house or public faucet and cesspool or latrine. Parasite forms were found in 82.3% of the soil samples and in 84.2% of the water samples. In both samples we found parasites that were also found in people. In this study we have found deficient sanitary conditions associated with presence of parasites in population and we have evidenced that contaminated soil and water were the source of these parasites.

Intestinal parasitoses and environmental factors in a rural population of Argentina, 2002-2003

We evaluate the prevalence of intestinal parasites in 504 people and the degree of association between environmental variables and parasites found in population, soil and water in a rural area of Argentina during 2002-2003. A structured survey was used to evaluate the environmental variables and fecal-human, soil and water samples were analyzed. The prevalence of parasites was 45.4 percent. Most prevalent protozoa were Blastocystis hominis (27.2 percent) and Giardia lamblia (6.9 percent), while the most prevalent helminth was Ascaris lumbricoides (3.8 percent). The analyzed environmental variables showing association (p < 0.05) with presence of parasites in population were: cardboard-tin or wooden house, dirt floor, home or communal water pump, faucet outside the house or public faucet and cesspool or latrine. Parasite forms were found in 82.3 percent of the soil samples and in 84.2 percent of the water samples. In both samples we found parasites that were also found in people. In this study we have found deficient sanitary conditions associated with presence of parasites in population and we have evidenced that contaminated soil and water were the source of these parasites.

Hemos evaluado la prevalencia de parásitos intestinales en 504 personas y el grado de asociación entre las variables ambientales y los parásitos intestinales hallados en la población, el suelo y el agua de una zona rural de Argentina durante 2002-2003. Se utilizó una encuesta estructurada para relevar las variables ambientales y se examinaron muestras fecales humanas, de agua y de suelo. La prevalencia parasitaria fue de 45,4 por ciento. Los protozoos prevalentes fueron Blastocystis hominis (27,2 por ciento) y Giardia lamblia (6,9 por ciento), mientras que el helminto mas prevalente fue Ascaris lumbricoides (3,8 por ciento). Las variables ambientales analizadas que mostraron asociación (p < 0,05) con la presencia de parásitos en la población fueron: casa de cartón-chapa o de madera con piso de tierra, bomba de agua domiciliaria o comunitaria, canilla fuera de la casa o pública y pozo ciego o letrina. Elementos parasitarios fueron hallados en el 82,3 por ciento de las muestras de suelo y en el 84,2 por ciento de las muestras de agua. En ambas muestras fueron hallados parásitos que también se encontraron en las personas. En este trabajo hemos hallado deficientes condiciones sanitarias asociadas con la presencia de parásitos en las personas y hemos evidenciado que el suelo y el agua contaminada fueron la fuente de esos parasitos.

Enterobius vermicularis infection among population of General Mansilla, Argentina.

AIM: To evaluate the relationships between the personal, sociocultural, and environmental characteristics, and the presence or absence of symptoms with the detection of Enterobius vermicularis (E. vermicularis) in a population sample in our region (General Mansilla, Province of Buenos Aires, Argentina), by individual and familiar analyses. METHODS: E. vermicularis was diagnosed in 309 people from 70 family units residing in the urban area and the rural area of the city of General Mansilla. Each of them was surveyed so as to register personal, environmental and sociocultural data. Questions about the presence or absence of anal itch, abdominal pain and sleeping disorder were also asked. Significant associations were determined by square chi tests. Logistic regression models were adjusted by using a backward conditional stepwise method to determine the presence of this parasite in the individuals and in the families. RESULTS: The parasites were found in 29.12% (90/309) of the individuals, with a frequency of 14.28% (20/140) among the heads of the families and of 41.42% (70/169) among the children. The only variables showing a significant association were affiliation, where the risk category was "being the son/daughter of", and the symptoms were abdominal pain, sleeping disorder, and anal itch. Families with a member infected with parasite were considered Positive Families (PF) and they were 40/70 (57.14%), only 5% (2/40) of the PF had 100% of their members infected with the parasite. The logistic regression models applied showed that the risk categories were mainly affiliation (son/daughter) and housing (satisfactory) among others. CONCLUSION: The presence of E. vermicularis was proved in one third of the studied population. The frequency of families with all their members infected with the parasite was very low. Most of the studied personal, sociocultural, and environmental variables did not turn out to be significantly associated with the presence of the parasite. An association with the category of "son/daughter" and housing classified as "satisfactory" was determined. The latter may be due to the fact that the people living in that category of housing have hygienic practices at home that favour the distribution of the eggs in the environment. The presence of the analysed symptoms was associated with the presence of the parasite, thus strengthening the need of periodical control of the population showing at least one of these symptoms.