Histologic characterization and risk factors for persistent albuminuria in adolescents in a region of highly prevalent end-stage renal failure of unknown origin.

Background: End-stage renal failure of unknown origin (ESRD-UO) is a public health problem in Mexico and many regions of the world. The prevalence of ESRD-UO in Aguascalientes, Mexico, is one of the highest worldwide, particularly in adults between 20 and 40 years of age. Our aim was to screen adolescents for chronic kidney disease (CKD) to identify risk factors and histologically characterize adolescents with persistent albuminuria. Methods: This was a cross-sectional, observational and comparative study of adolescents in whom serum creatinine and the albumin:creatinine ratio (ACR) were determined when screening for CKD. A clinical evaluation and risk factor survey were conducted. Patients with an abnormal ACR (≥30 mg/g) or a low glomerular filtration rate (GFR) (≤75 mL/min/1.73 m2) were re-evaluated and a renal ultrasound (US) was obtained. A kidney biopsy was performed in patients with persistent albuminuria. Results: A total of 513 students were included; 19 had persistent albuminuria and 494 were controls. The prevalence of persistent albuminuria was 3.7% [95% confidence interval (CI) 2.1-5.3]. Only one patient had a decreased GFR. None of the patients with persistent albuminuria had anatomical abnormalities of the urinary tract by renal US. Patients with persistent albuminuria had a decreased total renal volume compared with the control group (150 versus 195 mL/m2; P < 0.01). Eighteen kidney biopsies were performed; 72% had glomerulomegaly and only one patient had mild fibrosis. Podocyte abnormalities were evident on electron microscopy, including partial fusion (100%), microvillous degeneration (80%) and increased organelles (60%). Risk factors for persistent albuminuria were: homestead proximity to maize crops, the use of pesticides at the father's workplace, a family history of CKD and blood pressure abnormalities. The body mass index and breastfeeding were protective factors. Conclusions: The prevalence of persistent albuminuria in adolescents in Aguascalientes is high and histologic compromise is characterized by podocyte injury in the absence of fibrosis. The renal volume of persistent albuminuria patients was decreased, suggesting oligonephronia. Exposure to environmental toxins such as pesticides, even prenatally, may be responsible for this pathological entity. Screening programs in adolescents by determining ACR are necessary in this setting.

Síndrome de Noonan asociado a mutación del gen SOS1, reporte de caso / Noonan syndrome associated with a mutation of the SOS1 gene, case report

Introducción: El síndrome de Noonan es un trastorno genético de herencia autosómica dominante con una expresión fenotípica variable. Se encuentra dentro de las enfermedades conocidas como rasopatías, producidas por las mutaciones en los genes RAS. Los pacientes se caracterizan por dismorfismo facial, talla baja, enfermedad cardíaca congénita, alteraciones músculos esqueléticas y en algunos casos discapacidad intelectual. Caso clínico: En el presente reporte se describe el caso de un paciente masculino de un mes de edad que acude a consulta externa, presentando dismorfismo facial y estenosis pulmonar, por lo que se realiza un seguimiento multidisciplinario por sospecha de Síndrome de Noonan. A partir del cuarto mes desarrolló linfedema en la zona del deltoides. Evolución: A los 7 meses de vida se realiza secuenciación de exoma, encontrando una variante patogénica en el gen SOS1, confirmando el diagnóstico de dicho síndrome. Conclusión: Este caso documenta la presencia de síndrome de Noonan con mutación del gen SOS1 con dismorfología facial típica, estenosis de la válvula pulmonar, criptorquidia y displasia linfática con linfedema del deltoides, hallazgo no descrito en casos previos.

Introduction: Noonan syndrome is a dominant autosomal inherited ge-netic disorder with variable phenotypic expression. It is found within diseases known as rasopathies and is pro-duced by mutations in RAS genes. Patients are character-ized by facial dysmorphism, short stature, congenital heart disease, musculoskeletal disorders, and, in some cases, intellectual disability. Clinical case: This report describes the case of a one-month-old male patient who comes to the outpatient clinic, presenting with facial dysmorphism and pulmonary steno-sis, for which a multidisciplinary follow-up is carried out due to suspicion of Noonan syndrome. From the fourth month, the patient developed lymphedema in the deltoid area. Evolution: At 7 months of age, exome sequencing was per-formed, finding a pathogenic vari-ant in the SOS1 gene and confirming the diagnosis of this syndrome. Conclusion: This case documents the presence of Noonan syndrome with a mutation of the SOS1 gene with typical facial dysmorphology, pulmonary valve stenosis, cryptor-chidism and lymphatic dysplasia with deltoid.

Encefalitis por enterovirus: análisis clínico y paraclínico en pacientes pediátricos de un hospital de tercer nivel en Quito-Ecuador, de enero a diciembre de 2016 / Enterovirus encephalitis: clinical and paraclinical analysis in pediatric patients in a tertiary hospital in Quito-Ecuador, from January to December 2016

La encefalitis es una entidad rara con manifestaciones clínicas variables. En los niños es usualmente leve y autolimitada. En 30 a 75% se desconoce la etiología y cuando el patógeno se identifica por PCR (reacción en cadena de la polimerasa), el 80% son enterovirus. En América Latina no están disponibles métodos específicos de diagnóstico. En nuestro país muy pocos centros realizan el examen y tampoco están disponibles estadísticas reales de su incidencia. Objetivo: correlacionar la etiología con los síntomas, resultados de laboratorio, imagen y electroencefalograma. Métodos: estudio transversal; de enero a diciembre de 2016 se revisaron las historias clínicas de 63 niños de 0 a 18 años hospitalizados con sospecha de encefalitis. Una vez identificado el enterovirus por PCR, se correlacionó con los hallazgos de los exámenes de laboratorio e imagen. Resultados: se confirmó encefalitis viral en 35 pacientes, enterovirus en 49%, predominio en la edad preescolar. Síntomas más comunes: fiebre, cefalea, signos meníngeos y síntomas digestivos, 24% alteraciones de la conciencia. Biometría hemática normal en 71%, proteina C reactiva alterada en 71%. De los pacientes con estudios de imagen, 6% tuvo resultado anormal y en aquellos con electroencefalograma 80% fue anormal. Se utilizó la U de Mann Whitney para el análisis estadístico, la relación entre enterovirus y alteración de estado de conciencia y síntomas digestivos fue significativa (p=0.029). Conclusión: en los pacientes con diagnóstico de encefalitis que presenten síntomas digestivos y alteración del estado de conciencia, se debe sospechar que el enterovirus es el agente etiológico.

Encephalitis is a rare entity with variable clinical manifestations. In children it is usually mild and self-limited. In 30-75% of cases, the etiology is unknown and when the pathogen is identified by PCR (polymerase chain reaction), 80% are enteroviruses. In Latin America specific diagnostic methods are not available. In our country very few centers carry out the specific test, real statistics of their incidence are not available Objective: To correlate etiology with symptoms, laboratory results, imaging and electroencephalogram. Methods: Cross-sectional study, clinical records of 63 children between 0 and 18 years hospitalized with suspected encephalitis from January to December 2016 were reviewed. Once Enterovirus was identified by PCR, it was correlated with the findings of laboratory and imaging tests. Results: Viral encephalitis was confirmed in 35 patients, Enterovirus in 49%, predominance in pre-school age. Most common symptoms: fever, headache, meningeal signs and digestive symptoms, 24% alterations of consciousness. Normal blood count in 71%, Protein C Reactive altered in 71%. In patients with imaging studies, 6% had an abnormal result and in those who underwent electroencephalography, 80% were abnormal. The Mann Whitney U was used for the statistical analysis, the relationship between enterovirus and alteration of consciousness and digestive symptoms was significant (p: 0.029) Conclution: In patients with a diagnosis of encephalitis presenting digestive symptoms and altered state of consciousness, Enterovirus should be suspected as an etiologic agent.

Enhancing avifauna in commercial plantations.

The occurrence of fauna in commercial plantations is often associated with structural complexity. Through a meta-analysis, we tested whether the structural complexity of plantations could enhance bird species assemblages and whether bird assemblages respond differently depending on taxonomic affiliation, body size, and diet. Our analyses included 167 case studies in 31 countries in which bird assemblages in forests and plantations were compared and 42 case studies in 14 countries in which bird assemblages in plantations of different structural complexity were compared. Species richness, but not abundance, was higher in forests than in plantations. Both species richness and abundance were significantly higher in complex than in structurally simple plantations. Taxonomic representation and body size did not differ between forest and plantations, except that there were fewer insectivorous birds in plantations than in forests. In the comparison of simple versus complex plantations, abundance of all taxonomic and dietary groups was higher in complex plantations. Body size did not affect bird species richness or abundance. Independent of the type of plantation, bird richness and abundance were greater in structurally complex plantations. Enhancing the structural complexity of plantations may mitigate their impact and offer habitat for some native species.