Adherencia a las medidas higiénico dietéticas de adultos con diabetes mellitus de Asunción en 2022

Introducción: la adherencia al tratamiento no farmacológico de la diabetes mellitus es un factor clave para evitar o retrasar las complicaciones de esta enfermedad. El cumplimento terapéutico depende de múltiples factores. Objetivo: evaluar la adherencia al tratamiento higiénico dietético en pacientes con diabetes mellitus, sobre todo la nutricional y la actividad física. Se midieron además las variables demográficas y presencia de hipertensión arterial. Metodología: se realizó una entrevista a pacientes adultos de ambos sexos, portadores de diabetes mellitus, que residen en el barrio Sajonia de Asunción, Paraguay, entre mayo y octubre del 2022. Se midieron variables demográficas y clínicas. La adherencia se determinó con el cuestionario de Caro Bautista que consta de 7 preguntas que evalúan las prácticas terapéuticas de los pacientes en la última semana. El estudio contó con la aprobación del Comité de ética de la Facultad de Medicina de la Universidad Privada del Este, Paraguay. Resultados: fueron entrevistados 257 personas con el diagnóstico de diabetes mellitus, con predominio del sexo femenino (61,4%), 73,9% refería tener ingresos propios y 49% padecía también de hipertensión arterial. El cuestionario detectó que 20,1% seguía una dieta saludable toda la semana, 15,5% realizaba ejercicios físicos diariamente y 14,3% realizaba los monitoreos de sangre capilar regularmente. Conclusión: entre 10 y 22% de los pacientes con diabetes mellitus realiza dieta y ejercicios adecuados, así como monitoreo de la glucemia según las recomendaciones de sus médicos.

Introduction: Adherence to non-pharmacological treatment of diabetes mellitus is a key factor in avoiding or delaying the complications of this disease. Treatment compliance depends on multiple factors. Objective: To evaluate adherence to dietary hygienic treatment in patients with diabetes mellitus, especially nutrition and physical activity. Demographic variables and the presence of arterial hypertension were also measured. Methodology: An interview was conducted with adult male and female patients, carriers of diabetes mellitus, residing in the Sajonia neighborhood of Asunción, Paraguay, between May and October 2022. Demographic and clinical variables were measured. Adherence was determined with the Caro Bautista questionnaire, which consists of seven questions that evaluate the therapeutic practices of patients in the last week. The study was approved by the Ethics Committee of the Faculty of Medicine of the Universidad Privada del Este, Paraguay. Results: Two hundred fifty-seven people diagnosed with diabetes mellitus were interviewed, with a predominance of females (61.4%), 73.9% reported having their own income and 49% also suffered from arterial hypertension. The questionnaire detected that 20.1% followed a healthy diet all week, 15.5% performed daily physical exercises, and 14.3% performed capillary blood monitoring regularly. Conclusion: Between 10 and 22% of patients with diabetes mellitus perform adequate diet and exercise, as well as glycemia monitoring according to the recommendations of their physicians.

Clinical and Genetic Analysis of Multiple Osteochondromas in A Cohort of Argentine Patients.

Multiple Osteochondromatosis (MO, MIM 133700 & 133701), an autosomal dominant O-glycosylation disorder (EXT1/EXT2-CDG), can be associated with a reduction in skeletal growth, bony deformity, restricted joint motion, shortened stature and pathogenic variants in two tumor suppressor genes, EXT1 and EXT2. In this work, we report a cross-sectional study including 35 index patients and 20 affected family members. Clinical phenotyping of all 55 affected cases was obtained, but genetic studies were performed only in 35 indexes. Of these, a total of 40% (n = 14) had a family history of MO. Clinical severity scores were class I in 34% (n:18), class II in 24.5% (n:13) and class III in 41.5% (n:22). Pathogenic variants were identified in 83% (29/35) probands. We detected 18 (62%) in EXT1 and 11 (38%) in EXT2. Patients with EXT1 variants showed a height z-score of 1.03 SD lower than those with EXT2 variants and greater clinical severity (II-III vs. I). Interestingly, three patients showed intellectual impairment, two patients showed a dual diagnosis, one Turner Syndrome and one hypochondroplasia. This study improves knowledge of MO, reporting new pathogenic variants and forwarding the worldwide collaboration necessary to promote the inclusion of patients into future biologically based therapeutics.

Exostosis múltiple: variabilidad clínica y factores relacionados a la calidad de vida en niños y en adultos / Osteochondromatosis: clinical variability and factors related to quality of life in children and adults

Introducción. La exostosis múltiple hereditaria es una enfermedad poco frecuente autosómica dominante caracterizada por presencia de múltiples proyecciones óseas. Objetivo. Analizar factores asociados a la calidad de vida relacionada con la salud (CVRS) en niños >2 años y en adultos en seguimiento en un hospital de pediatría de alta complejidad de Argentina. Población y métodos. Estudio transversal de una cohorte en seguimiento. La CVRS se midió con Pediatric Quality of Life Inventory (PedsQL) y Short Form Health Survey (SF-36). Se registró sexo, edad, características sociodemográficas, estatura, radiología, alteración de eje y función de miembros, presencia de dolor y malignización. Se clasificó la gravedad según Pedrini y col. Se realizaron pruebas paramétricas, no paramétricas y análisis de regresión. Resultados. Se incluyeron 66 casos (47 niños y 19 adultos). Relación sexo masculino/femenino: 1,7/1. Mediana de edad: 13,4 años (r: 2,2155,3). Presentaron dolor 30 de 47 niños y 17 de 19 adultos. Si se considera la edad ósea adulta (o cierre epifisario) como punto de corte para definir el estado de adulto, 11 de 37 niños y 18 de 27 adultos presentaron forma grave de enfermedad, y se observó baja estatura en 2 de 38 niños y en 9 de 27 adultos. El valor promedio del componente físico de CVRS en niños fue 65,9 (DE: 22,5) y, en adultos, 27,2 (RIC: 18,5-34,7). La presencia de dolor y la gravedad clínica se asoció significativamente a menor CVRS tanto en niños como en adultos. Conclusiones. En este estudio se observó que el dolor y la gravedad de la enfermedad tuvieron un efecto negativo en la CVRS.

Introduction. Hereditary osteochondromatosis is an uncommon, autosomal, dominant condition characterized by the presence of multiple bone growths. Objective. To analyze factors associated with health-related quality of life (HRQoL) among children > 2 years and adults receiving follow-up at a tertiary care children's hospital in Argentina. Population and methods. Cross-sectional study of a follow-up cohort. HRQoL was measured using the Pediatric Quality of Life Inventory (PedsQL) and the Short Form Health Survey (SF36). Sex, age, sociodemographic characteristics, height, radiology, axis alteration and limb function, presence of pain, and malignant change were recorded. Severity was classified as per Pedrini et al. Parametric and non-parametric tests and regression analysis were done. Results. A total of 66 cases (47 children and 19 adults) were included. Male/female ratio: 1.7/1. Median age: 13.4 years (r: 2.21-55.3). Pain was observed in 30/47 children and in 17/19 adults. Considering the adult bone age (or epiphyseal closure) as the cutoff point to define adult status, 11/37 children and 18/27 adults had a severe disease and 2/38 children and 9/27 adults had short stature. The average value of the physical component of HRQoL in children was 65.9 (SD: 22.5) and, in adults, 27.2 (IQR: 18.534.7). The presence of pain and clinical severity were significantly associated with a lower HRQoL, both in children and adults. Conclusions. This study found that pain and disease severity had a negative effect on HRQoL.

Osteochondromatosis: clinical variability and factors related to quality of life in children and adults. / Exostosis múltiple: variabilidad clínica y factores relacionados a la calidad de vida en niños y en adultos.

INTRODUCTION: Hereditary osteochondromatosis is an uncommon, autosomal, dominant condition characterized by the presence of multiple bone growths. OBJECTIVE: To analyze factors associated with health-related quality of life (HRQoL) among children > 2 years and adults receiving follow-up at a tertiary care children's hospital in Argentina. POPULATION AND METHODS: Cross-sectional study of a follow-up cohort. HRQoL was measured using the Pediatric Quality of Life Inventory® (PedsQL) and the Short Form Health Survey (SF- 36). Sex, age, sociodemographic characteristics, height, radiology, axis alteration and limb function, presence of pain, and malignant change were recorded. Severity was classified as per Pedrini et al. Parametric and non-parametric tests and regression analysis were done. RESULTS: A total of 66 cases (47 children and 19 adults) were included. Male/female ratio: 1.7/1. Median age: 13.4 years (r: 2.21-55.3). Pain was observed in 30/47 children and in 17/19 adults. Considering the adult bone age (or epiphyseal closure) as the cutoff point to define adult status, 11/37 children and 18/27 adults had a severe disease and 2/38 children and 9/27 adults had short stature. The average value of the physical component of HRQoL in children was 65.9 (SD: 22.5) and, in adults, 27.2 (IQR: 18.5- 34.7). The presence of pain and clinical severity were significantly associated with a lower HRQoL, both in children and adults. CONCLUSIONS: This study found that pain and disease severity had a negative effect on HRQoL.

Introducción. La exostosis múltiple hereditaria es una enfermedad poco frecuente autosómica dominante caracterizada por presencia de múltiples proyecciones óseas. OBJETIVO: Analizar factores asociados a la calidad de vida relacionada con la salud (CVRS) en niños >2 años y en adultos en seguimiento en un hospital de pediatría de alta complejidad de Argentina. Población y métodos. Estudio transversal de una cohorte en seguimiento. La CVRS se midió con Pediatric Quality of Life Inventory® (PedsQL) y Short Form Health Survey (SF-36). Se registró sexo, edad, características sociodemográficas, estatura, radiología, alteración de eje y función de miembros, presencia de dolor y malignización. Se clasificó la gravedad según Pedrini y col. Se realizaron pruebas paramétricas, no paramétricas y análisis de regresión. RESULTADOS: Se incluyeron 66 casos (47 niños y 19 adultos). Relación sexo masculino/femenino: 1,7/1. Mediana de edad: 13,4 años (r: 2,21- 55,3). Presentaron dolor 30 de 47 niños y 17 de 19 adultos. Si se considera la edad ósea adulta (o cierre epifisario) como punto de corte para definir el estado de adulto, 11 de 37 niños y 18 de 27 adultos presentaron forma grave de enfermedad, y se observó baja estatura en 2 de 38 niños y en 9 de 27 adultos. El valor promedio del componente físico de CVRS en niños fue 65,9 (DE: 22,5) y, en adultos, 27,2 (RIC: 18,5-34,7). La presencia de dolor y la gravedad clínica se asoció significativamente a menor CVRS tanto en niños como en adultos. CONCLUSIONES: En este estudio se observó que el dolor y la gravedad de la enfermedad tuvieron un efecto negativo en la CVRS.

Characterization and Use in Wheat Breeding of Leaf Rust Resistance Genes from Durable Varieties.

Leaf rust is one of the most significant diseases of wheat worldwide. In Argentina, it is one of the main reasons for variety replacement that becomes susceptible after large-scale use. Some varieties showed durable resistance to this disease, including Buck Manantial and Sinvalocho MA. RILs (Recombinant Inbred Lines) were developed for each of these varieties and used in genetics studies to identify components of resistance, both in greenhouse inoculations using leaf rust races, and in field evaluations under natural population infections. In Buck Manantial, the APR gene LrBMP1 was associated with resistance in field tests. In crosses involving Sinvalocho MA, four genes were previously identified and associated with resistance in field testing: APR (Adult Plant Resistance) gene LrSV1, the APR genetic system LrSV2 + LrcSV2 and the ASR (All Stage Resistance) gene LrG6. Using backcrosses, LrBMP1 was introgressed in four commercial susceptible varieties and LrSV1, LrSV2 + LrcSV2 and LrG6 were simultaneously introgressed in three susceptible commercial varieties. The use of molecular markers for recurrent parent background selection allowed us to select resistant lines with more than 80% similarity to commercial varieties. Additionally, progress towards positional cloning of the genetic system LrSV2 + LrcSV2 for leaf rust APR is reported.

Infección Urinaria en Embarazadas que asisten al Consultorio Externo del Hospital Materno Infantil Santísima Trinidad. Asunción, Paraguay / Urinary Infection in Pregnant Women who attend the Outpatient Office of the Maternal Infant Hospital of Santísima Trinidad. Asunción, Paraguay

Introducción: El tipo de infección más común en las embarazadas es el de las vías urinarias (IVU), debido a varios factores que favorecen su desarrollo. Esto puede ocasionar distintas complicaciones en el feto y la madre. Objetivos: Determinar la prevalencia de IVU en embarazadas que acuden al Hospital Materno Infantil Santísima Trinidad. Materiales y Métodos: Estudio observacional, descriptivo, prospectivo de corte transversal en mujeres embarazadas que asistieron a controles prenatales al Hospital Materno Infantil Santísima Trinidad, en Asunción, Paraguay, de mayo a noviembre del año 2018. Se determinaron variables demográficas, clínicas y de laboratorio. Resultados: Se analizaron muestras de 202 pacientes, la edad media fue de 24±6 años. 83% presentó síntomas sugerentes de IVU, pero la prevalencia de dicha patología fue del 2%. Los agentes etiológicos aislados más comunes fueron: Escherichia coli y Staphylococcus saprophyticus. Todas las pacientes con IVU presentaron manifestaciones clínicas, principalmente nicturia, polaquiuria, dolor en flanco y orina oscura. Conclusión: Las manifestaciones de IVU pueden ser poco confiables durante la gestación debido al gran porcentaje de embarazadas que presentaron síntomas sugestivos, pero urocultivo negativo. La prueba diagnóstica definitiva de IVU es la presencia en el urocultivo de un solo germen en una cantidad igual o mayor a 105 UFC/mL.

Introduction: The most common type of infection in pregnant women affects the urinary tract (UTI), due to several factors that may contribute to its development. This can cause different complications in the fetus and mother. Objectives: To determine the prevalence of UTI in pregnant women who attend the Maternal Infant Hospital of Santísima Trinidad. Materials and Methods: Observational, descriptive, prospective cross-sectional study in pregnant women who attended prenatal controls at the Maternal Infant Hospital of Santísima Trinidad, in Asunción, Paraguay, from May to November of the year 2018. Demographic, clinical and laboratory variables were determined. Results: We analyzed samples of 202 patients, the mean age was 24 ± 6 years. 83% of them showed symptoms that suggested UTI but the prevalence was 2%. The most common etiological agents isolated were: Escherichia coli and Staphylococcus saprophyticus. All patients with UTI showed clinical manifestations, mostly nocturia, urinary frequency, flank pain and dark urine. Conclusion: UTI manifestations may be unreliable during pregnancy due to the large percentage of pregnant women who presented suggestive symptoms but negative urine culture. The definitive diagnostic test of UTI is the presence in the urine culture of a single germ in an amount equal to or greater than 105 CFU/mL.

Prognostic indicators of improvement with therapeutic plasma exchange in pediatric demyelination.

OBJECTIVES: To determine the safety and clinical benefit of therapeutic plasma exchange (TPE) as rescue therapy in children with acute inflammatory demyelinating CNS syndromes and to identify baseline prognostic indicators of treatment improvement. METHODS: This single-center retrospective pediatric cohort included all consecutive patients admitted to our hospital over the period from 2003 to 2017 because of a steroid-refractory acute CNS event presumed to be inflammatory who required TPE. Functional status assessment to identify improvement included the following performance category scales: visual outcome, bladder control, gait, and Expanded Disability Status Scale (EDSS). These assessments were performed before and after TPE in every patient. RESULTS: Sixty-five children requiring TPE to treat 78 CNS attacks were included for analysis. Median age at TPE was 10.5 years (1.9-18 years); 45% were girls. Seropositivity (aquaporin-4 water channel-immunoglobulin G [IgG] or myelin oligodendrocyte glycoprotein-IgG) was found in 20 of 42 (48%) patients. Attack phenotypes leading to TPE were optic neuritis (ON) in 42%, longitudinally extensive transverse myelitis (LETM) in 31%, ON + LETM in 15%, and other combined syndromes in 11%. Overall, moderate to marked neurologic improvement was observed in 72% of children at the end of TPE and in 88.5% at 6 months of follow-up. Lower baseline scores on the EDSS, visual outcome, and gait scales were found to be independent prognostic indicators of treatment benefit. Sex, age at onset and at TPE, attack phenotype, disease duration, and time from attack onset to TPE initiation were not significantly associated with treatment outcome. Adverse events were observed in 31 of 524 (5.9%) procedures, being severe in 4. CONCLUSIONS: TPE was an effective rescue therapy associated with functional improvement. No therapeutic window for TPE initiation was identified in this pediatric cohort. Overall frequency of adverse events was low; however, serious events should be anticipated and avoided. CLASSIFICATION OF EVIDENCE: This study provides Class IV evidence that for children with acute inflammatory demyelinating CNS syndromes, TPE leads to functional improvement.

Mapping a gene on wheat chromosome 4BL involved in a complementary interaction with adult plant leaf rust resistance gene LrSV2.

KEY MESSAGE: A complementary gene to LrSV2 for specific adult plant leaf rust resistance in wheat was mapped on chromosome 4BL, tightly linked to Lr12 / 31. LrSV2 is a race-specific adult plant leaf rust (Puccinia triticina) resistance gene on subdistal chromosome 3BS detected in the cross of the traditional Argentinean wheat (Triticum aestivum) variety Sinvalocho MA and the experimental line Gama6. The analysis of the cross of R46 [recombinant inbred line (RIL) derived from Sinvalocho MA carrying LrSV2 gene and the complementary gene Lrc-SV2 identified in the current paper] and the commercial variety Relmo Siriri (not carrying neither of these two genes) allowed the detection of the unlinked complementary gene Lrc-SV2 because the presence of one dominant allele of both is necessary to express the LrSV2-specific adult plant resistance. Lrc-SV2 was mapped within a 1-cM interval on chromosome 4BL using 100 RILs from the cross Sinvalocho MA × Purple Straw. This genetic system resembles the Lr27+31 seedling resistance reported in the Australian varieties Gatcher and Timgalen where interacting genes map at similar chromosomal positions. However, in high-resolution maps, Lr27 and LrSV2 were already mapped to adjacent intervals on 3BS and Lrc-SV2 map position on 4BL is distal to the reported Lr12/31-flanking microsatellites.

Characterization and comparative analysis of the genome of Puccinia sorghi Schwein, the causal agent of maize common rust.

Rust fungi are one of the most devastating pathogens of crop plants. The biotrophic fungus Puccinia sorghi Schwein (Ps) is responsible for maize common rust, an endemic disease of maize (Zea mays L.) in Argentina that causes significant yield losses in corn production. In spite of this, the Ps genomic sequence was not available. We used Illumina sequencing to rapidly produce the 99.6Mbdraft genome sequence of Ps race RO10H11247, derived from a single-uredinial isolate from infected maize leaves collected in the Argentine Corn Belt Region during 2010. High quality reads were obtained from 200bppaired-end and 5000bpmate-paired libraries and assembled in 15,722 scaffolds. A pipeline which combined an ab initio program with homology-based models and homology to in planta enriched ESTs from four cereal pathogenic fungus (the three sequenced wheat rusts and Ustilago maydis) was used to identify 21,087 putative coding sequences, of which 1599 might be part of the Ps RO10H11247 secretome. Among the 458 highly conserved protein families from the euKaryotic Orthologous Groups (KOG) that occur in a wide range of eukaryotic organisms, 97.5% have at least one member with high homology in the Ps assembly (TBlastN, E-value⩽e-10) covering more than 50% of the length of the KOG protein. Comparative studies with the three sequenced wheat rust fungus, and microsynteny analysis involving Puccinia striiformis f. sp. tritici (Pst, wheat stripe rust fungus), support the quality achieved. The results presented here show the effectiveness of the Illumina strategy for sequencing dikaryotic genomes of non-model organisms and provides reliable DNA sequence information for genomic studies, including pathogenic mechanisms of this maize fungus and molecular marker design.