First reported magnesium pyrophosphate kidney stone prompts diagnosis of hypophosphatasia.

Hypophosphatasia (HPP) is a rare genetic condition associated with poor bone mineralization, low serum alkaline phosphatase, high urinary pyrophosphate excretion, and nephrocalcinosis. Nephrocalcinosis is thought to develop due to the increased filtered loads associated with hypercalcemia and hyperphosphatemia, but the composition of these calcifications is incompletely understood. We report the first ever magnesium pyrophosphate (MgPPi) urinary stone, which prompted the new diagnosis of HPP in a 12-year-old boy. Stone analysis labs should include infrared spectra of PPi salts in their reference libraries to facilitate identification of these rare but clinically important stones.

Scalable approaches for generating, validating and incorporating data from high-throughput functional assays to improve clinical variant classification.

As the adoption and scope of genetic testing continue to expand, interpreting the clinical significance of DNA sequence variants at scale remains a formidable challenge, with a high proportion classified as variants of uncertain significance (VUSs). Genetic testing laboratories have historically relied, in part, on functional data from academic literature to support variant classification. High-throughput functional assays or multiplex assays of variant effect (MAVEs), designed to assess the effects of DNA variants on protein stability and function, represent an important and increasingly available source of evidence for variant classification, but their potential is just beginning to be realized in clinical lab settings. Here, we describe a framework for generating, validating and incorporating data from MAVEs into a semi-quantitative variant classification method applied to clinical genetic testing. Using single-cell gene expression measurements, cellular evidence models were built to assess the effects of DNA variation in 44 genes of clinical interest. This framework was also applied to models for an additional 22 genes with previously published MAVE datasets. In total, modeling data was incorporated from 24 genes into our variant classification method. These data contributed evidence for classifying 4043 observed variants in over 57,000 individuals. Genetic testing laboratories are uniquely positioned to generate, analyze, validate, and incorporate evidence from high-throughput functional data and ultimately enable the use of these data to provide definitive clinical variant classifications for more patients.

Effectiveness of an intervention to reduce stigma towards people with a mental disorder diagnosis in university students of healthcare careers.

Students in healthcare careers present stigma towards people with psychiatric diagnoses, so the development of interventions to reduce it is essential. This study aimed to evaluate the effectiveness of an intervention to reduce stigma towards people diagnosed with mental disorders in healthcare students in Chile. A randomized clinical trial with a before and after measurement was carried out. The intervention was part of a compulsory course and combined educational and contact strategies. A total of 244 fourth-semester students of medicine, nursing, dentistry, obstetrics, psychology, and social work participated. The intervention was effective in reducing stigmatizing attitudes and the desire for social distance. For almost all variables, the magnitude of the stigma reduction depended on the initial level of stigma, not on the profession. The intervention had positive effects on all careers. In conclusion, incorporating a stigma reduction intervention into mandatory professional training, with the active participation of the teacher in charge and experts by experience, can be a valuable tool to promote humanized and non-stigmatizing treatment.

Prioritizing genes for systematic variant effect mapping.

MOTIVATION: When rare missense variants are clinically interpreted as to their pathogenicity, most are classified as variants of uncertain significance (VUS). Although functional assays can provide strong evidence for variant classification, such results are generally unavailable. Multiplexed assays of variant effect can generate experimental 'variant effect maps' that score nearly all possible missense variants in selected protein targets for their impact on protein function. However, these efforts have not always prioritized proteins for which variant effect maps would have the greatest impact on clinical variant interpretation. RESULTS: Here, we mined databases of clinically interpreted variants and applied three strategies, each building on the previous, to prioritize genes for systematic functional testing of missense variation. The strategies ranked genes (i) by the number of unique missense VUS that had been reported to ClinVar; (ii) by movability- and reappearance-weighted impact scores, to give extra weight to reappearing, movable VUS and (iii) by difficulty-adjusted impact scores, to account for the more resource-intensive nature of generating variant effect maps for longer genes. Our results could be used to guide systematic functional testing of missense variation toward greater impact on clinical variant interpretation. AVAILABILITY AND IMPLEMENTATION: Source code available at: https://github.com/rothlab/mave-gene-prioritization. SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online.

Adrenocorticotropic Hormone for Childhood Nephrotic Syndrome: The ATLANTIS Randomized Trial.

BACKGROUND AND OBJECTIVES: There is renewed interest in adrenocorticotropic hormone (ACTH) for the treatment of nephrotic syndrome. We evaluated the efficacy and safety of ACTH in children with frequently relapsing or steroid-dependent nephrotic syndrome in a randomized trial. DESIGN, SETTING, PARTICIPANTS, & MEASUREMENTS: Participants aged 2-20 years old with frequently relapsing or steroid-dependent nephrotic syndrome were enrolled from 16 sites in the United States and randomized 1:1 to ACTH (repository corticotropin injection) or no relapse-preventing treatment. ACTH treatment regimen was 80 U/1.73 m2 administered twice weekly for 6 months, followed by 40 U/1.73 m2 administered twice weekly for 6 months. The primary outcome was disease relapse during the first 6 months. Participants in the control group were offered crossover to ACTH treatment if they relapsed within 6 months. Secondary outcomes were relapse after ACTH dose reduction and treatment side effects. RESULTS: The trial was stopped at a preplanned interim analysis after enrollment of 31 participants because of a lack of discernible treatment efficacy. Fourteen out of 15 (93%) participants in the ACTH arm experienced disease relapse in the first 6 months, with a median time to first relapse of 23 days (interquartile range, 9-32), compared with 15 out of 16 (94%) participants and at a median of 21 days (interquartile range, 14-51) in the control group. There was no difference in the proportion of relapsed patients (odds ratio, 0.93; 95% confidence interval, 0.05 to 16.40; P>0.99) or time to first relapse (hazard ratio, 1.03; 95% confidence interval, 0.50 to 2.15; P=0.93). Thirteen out of 16 participants in the control group crossed over to ACTH treatment. Three out of 28 participants completed 12 months of ACTH treatment; the others exited the trial because of frequent relapses or side effects. There were no disease relapses after ACTH dose reduction among the three participants. Most side effects were mild and similar to side effects of corticosteroids. CONCLUSIONS: ACTH at 80 U/1.73 m2 administered twice weekly was ineffective at preventing disease relapses in pediatric nephrotic syndrome.

Ambulatory hypertension in a pediatric cohort of sickle cell disease.

Hypertension is an established risk factor for subsequent cardiovascular and renal disease in children as well as adults. Sickle cell disease (SCD) is a genetic disorder associated with chronic hemolytic anemia with the major manifestation of vaso-occlusive crises. Although this disease entity involves most organ systems causing vascular and pulmonary injury, little is known about blood pressure (BP) levels or prevalence of hypertension in children with SCD. A cross-sectional study was conducted on 56 children with SCD (54 with hemoglobin SS disease; 2 with hemoglobin Sß0 thalassemia; 29 females). Study participants underwent 24-hour ambulatory BP monitoring (ABPM). Serum creatinine and cystatin C were obtained to assess estimated glomerular filtration rate with age-based formulas. A random urine sample was obtained to estimate urine osmolality and urine albumin to creatinine ratio. Mean age range was 11.9 (±4.5) years. Seventeen participants (30%) met criteria for hypertension based on ABPM. Of the 17 participants classified with hypertension, three had office hypertension with ambulatory hypertension, and 14 had masked hypertension detected on ABPM. Another 28 participants (50%) had some abnormal ABPM parameters in the form of either prehypertension and/or lack of normal nocturnal dipping status. The prevalence of confirmed hypertension, largely manifest by masked hypertension, is high in children, as young as 6 years of age with SCD. Early identification of hypertension in SCD children can confer benefit as it is an important modifiable risk factor for progression of cardiovascular and renal disease.

A motivational interview intervention delivered at home to improve the oral health literacy and reduce the morbidity of Chilean disadvantaged families: a study protocol for a community trial.

INTRODUCTION: Oral health education/promotion interventions have been identified as cost-efficient tools to improve the oral health of the population. These interventions are regularly made in contexts where the target population is captive, for example, in health centres. In Chile, there are no oral health interventions delivered at home. METHODS AND ANALYSIS: This community trial covers two disadvantaged urban areas in the province of Concepción. Both sectors have public preschool education coverage with a traditional programme (TP) to promote oral health. The intervention will comprise four to six visits by dental hygienists trained in the delivery of a standardised oral health promotion programme using motivational interviewing (MI) at home. The experimental group will receive TP and MI, while the control group will receive only TP. If a positive and significant effect of MI is found, this will be administered to the control group. For a 50% reduction in the incidence of caries, a sample size of 120 preschoolers per group is estimated. Data will be gathered on demographic and socioeconomic variables; oral health outcomes using WHO oral health indicators (the prevalence and severity of caries, periodontal disease, dentofacial anomalies and oral hygiene); the oral health literacy of caregivers, measured by the Rapid Estimation of Adult Literacy in Dentistry and the Oral Health Literacy Instrument, both validated for the Chilean population. Assessments will take place at baseline and at 12-month follow-up. ETHICS AND DISSEMINATION: The university bioethics committee approved this study (EI/21/2014). We will submit the trial's results for presentation at international scientific meetings and to peer-reviewed journals. TRIAL REGISTRATION NUMBER: ACTRN12615000450516.

Genome-scale measurement of off-target activity using Cas9 toxicity in high-throughput screens.

CRISPR-Cas9 screens are powerful tools for high-throughput interrogation of genome function, but can be confounded by nuclease-induced toxicity at both on- and off-target sites, likely due to DNA damage. Here, to test potential solutions to this issue, we design and analyse a CRISPR-Cas9 library with 10 variable-length guides per gene and thousands of negative controls targeting non-functional, non-genic regions (termed safe-targeting guides), in addition to non-targeting controls. We find this library has excellent performance in identifying genes affecting growth and sensitivity to the ricin toxin. The safe-targeting guides allow for proper control of toxicity from on-target DNA damage. Using this toxicity as a proxy to measure off-target cutting, we demonstrate with tens of thousands of guides both the nucleotide position-dependent sensitivity to single mismatches and the reduction of off-target cutting using truncated guides. Our results demonstrate a simple strategy for high-throughput evaluation of target specificity and nuclease toxicity in Cas9 screens.

Identification of significantly mutated regions across cancer types highlights a rich landscape of functional molecular alterations.

Cancer sequencing studies have primarily identified cancer driver genes by the accumulation of protein-altering mutations. An improved method would be annotation independent, sensitive to unknown distributions of functions within proteins and inclusive of noncoding drivers. We employed density-based clustering methods in 21 tumor types to detect variably sized significantly mutated regions (SMRs). SMRs reveal recurrent alterations across a spectrum of coding and noncoding elements, including transcription factor binding sites and untranslated regions mutated in up to ∼ 15% of specific tumor types. SMRs demonstrate spatial clustering of alterations in molecular domains and at interfaces, often with associated changes in signaling. Mutation frequencies in SMRs demonstrate that distinct protein regions are differentially mutated across tumor types, as exemplified by a linker region of PIK3CA in which biophysical simulations suggest that mutations affect regulatory interactions. The functional diversity of SMRs underscores both the varied mechanisms of oncogenic misregulation and the advantage of functionally agnostic driver identification.

Composición Corporal y Somatotipo de Mujeres de Entre 16 a 18 Años: Efecto de un Programa Acuático-Aeróbico en el Mejoramiento de la Fuerza Muscular / Body Composition and Somatotype in Women between 16 and 18 Years of Age: Effect of an Aquatic-Aerobics Program on the Improvement of Muscular Strength

Las actividades acuáticas son una clara alternativa a los programas de reforzamiento muscular terrestre. El objetivo de este trabajo fue determinar el efecto de un programa de ejercicios acuáticos-aeróbicos sobre pliegues y diámetros corporales y en el mejoramiento de la fuerza muscular de mujeres jóvenes. Doce mujeres de entre 16 a 18 años, sedentarias, seleccionadas intencionalmente fueron sometidas a un programa de ejercicios acuáticos de 18 sesiones, desarrollados en la Piscina Olímpica Municipal de la ciudad de Arica, Chile. Los resultados muestran que las jóvenes presentan un IMC de sobrepeso, con un somatotipo predominantemente endomórfico. Los pliegues corporales de muslo anterior y pantorrilla disminuyen significativamente al final de la aplicación del programa, igual comportamiento expresa la sumatoria de ellos (7: de 167,06±8,71 mm a 145,23±8,9 mm en pre-test). La fuerza muscular se incrementa significativamente en los músculos pectoral mayor, latísimo del dorso y bíceps braquial. Sin embargo este incremento es más significativo (p<0,001) en la sumatoria de los músculos evaluados (7: de 137,72±5,27 kg a 158,67±6,48 kg al finalizar el programa). Se concluye que el programa de ejercicios acuáticos-aeróbicos aplicado a las jóvenes, tiene un efecto positivo, con aumento significativo en la fuerza muscular y una disminución significativa en pliegues cutáneos. La aplicación de este tipo de programas, otorga múltiples beneficios para la salud y la mejora de la calidad de vida.

Aquatic activities are a clear alternative to programs of terrestrial muscle strengthening. The aim of this study was to determine the effect of aquatic-aerobics exercises on folds and body diameters and improving muscle strength in young women. Twelve women between 16­18 years old, sedentary, intentionally selected were subjected to an aquatic-aerobics exercises program of 18 sessions, developed at the Olympic Swimming Pool in Arica-Chile. The results show that young women have an overweight BMI, with a predominantly endomorph somatotype. The body folds of anterior thigh and calf decreased significantly at the end of program implementation, similar behavior expressed in the sum of these (7: of 167.06±8.71 mm to 145.23±8.9 mm in pretest). Muscle strength was significantly increased in the pectoralis major, latissimus dorsi and brachial biceps muscles. However, this increase is more significant (p<0.001) in the sum of muscles evaluated (?7: of 137.72±5.27 kg to 158.67±6.48 kg after the program). It is concluded that aquatic-aerobics exercise programs applied to young women, have a positive effect, with significant increases in muscle strength and a significant decrease in skin folds. The implementation of these programs provides multiple benefits for health and improved quality of life.

Integrative analysis of RNA, translation, and protein levels reveals distinct regulatory variation across humans.

Elucidating the consequences of genetic differences between humans is essential for understanding phenotypic diversity and personalized medicine. Although variation in RNA levels, transcription factor binding, and chromatin have been explored, little is known about global variation in translation and its genetic determinants. We used ribosome profiling, RNA sequencing, and mass spectrometry to perform an integrated analysis in lymphoblastoid cell lines from a diverse group of individuals. We find significant differences in RNA, translation, and protein levels suggesting diverse mechanisms of personalized gene expression control. Combined analysis of RNA expression and ribosome occupancy improves the identification of individual protein level differences. Finally, we identify genetic differences that specifically modulate ribosome occupancy--many of these differences lie close to start codons and upstream ORFs. Our results reveal a new level of gene expression variation among humans and indicate that genetic variants can cause changes in protein levels through effects on translation.

Pedunculated intraventricular subependymoma: Review of the literature and illustration of classical presentation through a clinical case.

BACKGROUND: Subependymomas are rare benign, noninvasive tumors, classified by the World Health Organization as low grade neoplasms. International data estimate their frequency between 0.2% and 0.7% of the intracranial tumors, and they usually are an incidental finding in autopsies. Preferably located in the fourth ventricle, these tumors tend to become symptomatic when they cause hydrocephalous by obstructing cerebrospinal fluid circulation. CASE PRESENTATION: We present the case of a morbidly obese, hypertense, and diabetic patient, who presented with symptoms of gait ataxia, sphincter incontinence, and dysartria in relation to a pedunculated subependymoma in the left lateral ventricle. He underwent a biparietal craniotomy with a microscopic microsurgical approach, through which gross total resection was achieved. No perioperative complications ensued. CONCLUSIONS: Given their benign behavior and their excellent response to surgical treatment, subependymomas should be promptly diagnosed and surgically treated to avoid possible neurological damage when they become symptomatic.

Regulatory analysis of the C. elegans genome with spatiotemporal resolution.

Discovering the structure and dynamics of transcriptional regulatory events in the genome with cellular and temporal resolution is crucial to understanding the regulatory underpinnings of development and disease. We determined the genomic distribution of binding sites for 92 transcription factors and regulatory proteins across multiple stages of Caenorhabditis elegans development by performing 241 ChIP-seq (chromatin immunoprecipitation followed by sequencing) experiments. Integration of regulatory binding and cellular-resolution expression data produced a spatiotemporally resolved metazoan transcription factor binding map. Using this map, we explore developmental regulatory circuits that encode combinatorial logic at the levels of co-binding and co-expression of transcription factors, characterizing the genomic coverage and clustering of regulatory binding, the binding preferences of, and biological processes regulated by, transcription factors, the global transcription factor co-associations and genomic subdomains that suggest shared patterns of regulation, and identifying key transcription factors and transcription factor co-associations for fate specification of individual lineages and cell types.

Comparative analysis of regulatory information and circuits across distant species.

Despite the large evolutionary distances between metazoan species, they can show remarkable commonalities in their biology, and this has helped to establish fly and worm as model organisms for human biology. Although studies of individual elements and factors have explored similarities in gene regulation, a large-scale comparative analysis of basic principles of transcriptional regulatory features is lacking. Here we map the genome-wide binding locations of 165 human, 93 worm and 52 fly transcription regulatory factors, generating a total of 1,019 data sets from diverse cell types, developmental stages, or conditions in the three species, of which 498 (48.9%) are presented here for the first time. We find that structural properties of regulatory networks are remarkably conserved and that orthologous regulatory factor families recognize similar binding motifs in vivo and show some similar co-associations. Our results suggest that gene-regulatory properties previously observed for individual factors are general principles of metazoan regulation that are remarkably well-preserved despite extensive functional divergence of individual network connections. The comparative maps of regulatory circuitry provided here will drive an improved understanding of the regulatory underpinnings of model organism biology and how these relate to human biology, development and disease.

Sushi.R: flexible, quantitative and integrative genomic visualizations for publication-quality multi-panel figures.

MOTIVATION: Interpretation and communication of genomic data require flexible and quantitative tools to analyze and visualize diverse data types, and yet, a comprehensive tool to display all common genomic data types in publication quality figures does not exist to date. To address this shortcoming, we present Sushi.R, an R/Bioconductor package that allows flexible integration of genomic visualizations into highly customizable, publication-ready, multi-panel figures from common genomic data formats including Browser Extensible Data (BED), bedGraph and Browser Extensible Data Paired-End (BEDPE). Sushi.R is open source and made publicly available through GitHub (https://github.com/dphansti/Sushi) and Bioconductor (http://bioconductor.org/packages/release/bioc/html/Sushi.html).

Quantitative analysis of RNA-protein interactions on a massively parallel array reveals biophysical and evolutionary landscapes.

RNA-protein interactions drive fundamental biological processes and are targets for molecular engineering, yet quantitative and comprehensive understanding of the sequence determinants of affinity remains limited. Here we repurpose a high-throughput sequencing instrument to quantitatively measure binding and dissociation of a fluorescently labeled protein to >10(7) RNA targets generated on a flow cell surface by in situ transcription and intermolecular tethering of RNA to DNA. Studying the MS2 coat protein, we decompose the binding energy contributions from primary and secondary RNA structure, and observe that differences in affinity are often driven by sequence-specific changes in both association and dissociation rates. By analyzing the biophysical constraints and modeling mutational paths describing the molecular evolution of MS2 from low- to high-affinity hairpins, we quantify widespread molecular epistasis and a long-hypothesized, structure-dependent preference for G:U base pairs over C:A intermediates in evolutionary trajectories. Our results suggest that quantitative analysis of RNA on a massively parallel array (RNA-MaP) provides generalizable insight into the biophysical basis and evolutionary consequences of sequence-function relationships.

Potassium-titanyl-phosphate (KTP) laser and dental bleaching: literature review / Láser potasio-titanil-fosfato (KTP) y blanqueamiento dental: revisión narrativa

Objective: To determinate if dental bleaching with KTP laser is a safe, effective and efficient technique. The use of KTP laser for dental bleaching was only investigated in combination with a high concentration of hydrogen peroxide (35 percent). The recommended protocol was: for the use of KTP laser at 3W power and an irradiation time of ten seconds, three to four cycles are needed. For a power of 1W and an irradiation time of thirty seconds the number of cycles is three with a maximum of four. Under these conditions KTP laser bleaching was considered not to alter surface morphology, to have no influence on enamel micro hardness, to maintain the pulp temperature within normal values, to obtain lighter tooth color which can be maintained for months (no long term studies were conducted). Because the bleaching effect was obtained in a short period of time and maintained for months, KTP laser bleaching was considered an effective and efficient technique. Conclusion: KTP-assisted dental bleaching is a safe, effective and efficient technique when combined with high concentration of hydrogen peroxide.

Objetivo: Determinar si el blanqueamiento dental con láser KTP es una técnica segura, efectiva y eficiente. El uso de láser KTP para blanqueamiento dental fue solo investigado en combinación con una alta concentración de peróxido de hidrogeno (35 por ciento). El protocolo recomendado fue: para el uso de láser KTP a 3W de potencia y un tiempo de irradiación de diez segundos, tres a cuatro repeticiones son necesarias. Para una potencia de 1W y un tiempo de irradiación de treinta segundos, el número de repeticiones son tres con un máximo de cuatro veces. Bajo estas condiciones, el blanqueamiento dental con esta técnica no altera la morfología de la superficie dental, no tiene influencia en la microdureza del esmalte, mantiene la temperatura pulpar dentro de valores normales y logra un color más claro el cual puede ser mantenido por meses (no se han realizado estudios a largo plazo). Conclusión: Debido a que, el efecto blanqueador se obtiene en poco tiempo y se mantiene por meses, el blanqueamiento dental con láser KTP se considera una técnica eficiente y efectiva, además de segura. Esto cuando es combinada con peróxido de hidrogeno de concentración alta.

CD80, suPAR and nephrotic syndrome in a case of NPHS2 mutation.

BACKGROUND: Podocin mutations are characterized by progression to end stage renal disease and histologic findings of Focal Segmental Glomerulosclerosis (FSGS). CD80 is a podocytes protein that may play a role in proteinuria, particularly in Minimal Change Disease whereas the soluble urokinase receptor (suPAR) is characteristically elevated in the serum of FSGS patients. METHODS: In a patient with nephrotic syndrome and podocin mutation, urinary and serum CD80 as well as suPAR were measured using commercially available kits. Urinary CD80 molecular size was determined by western blot analysis. Glomerular staining for CD80 and podocin was performed. RESULTS: Patient displayed marked elevated CD80 and mildly increased suPAR urinary levels compared to controls. Serum CD80 level was within the range observed in normal controls. Serum suPAR level was elevated, albeit in the lower range reported for patients with primary FSGS. Immunofluorescence examination of kidney biopsy revealed glomerular CD80 expression. CONCLUSION: The combination of serum and urinary biomarkers can help differentiate various forms of FSGS. High urinary CD80 and elevated serum and urinary suPAR might represent a profile to differentiate this genetic form of FSGS from primary FSGS.

CD80, suPAR and Nephrotic Syndrome in a case of NPHS2 mutation

Background: Podocin mutations are characterized by progression to end stage renal disease and histologic findings of Focal Segmental Glomerulosclerosis (FSGS). CD80 is a podocytes protein that may play a role in proteinuria, particularly in Minimal Change Disease whereas the soluble urokinase receptor (suPAR) is characteristically elevated in the serum of FSGS patients. Methods: In a patient with nephrotic syndrome and podocin mutation, urinary and serum CD80 as well as suPAR were measured using commercially available kits. Urinary CD80 molecular size was determined by western blot analysis. Glomerular staining for CD80 and podocin was performed. Results: Patient displayed marked elevated CD80 and mildly increased suPAR urinary levels compared to controls. Serum CD80 level was within the range observed in normal controls. Serum suPAR level was elevated, albeit in the lower range reported for patients with primary FSGS. Immunofluorescence examination of kidney biopsy revealed glomerular CD80 expression. Conclusion: The combination of serum and urinary biomarkers can help differentiate various forms of FSGS. High urinary CD80 and elevated serum and urinary suPAR might represent a profile to differentiate this genetic form of FSGS from primary FSGS (AU)

Antecedentes: Las mutaciones de la podocina están caracterizadas por la progresión hacia enfermedad renal terminal y por hallazgos histológicos de glomeruloesclerosis segmentaria y focal (GSF). CD80 es una proteína podocitaria que parece tener un papel en la proteinuria de la enfermedad de cambios mínimos, mientras que el receptor soluble de la uroquinasa (suPAR) es característicamente elevado en el suero de pacientes con GSF. Métodos: En un paciente con síndrome nefrótico y mutación de la podocina, se cuantificó CD80 y suPAR en suero y orina usando los kits disponibles en el mercado. El peso molecular del CD80 urinario fue determinado mediante Western blot. Se realizó la tinción para CD80 y podocina en el glomérulo. Resultados: El paciente presentó niveles urinarios marcadamente elevados de CD80 y ligeramente elevados de suPAR en comparación con controles. El nivel sérico de CD80 se encontró dentro del rango observado en controles. El nivel sérico de suPAR fue elevado, aunque en el límite inferior del rango publicado para pacientes con GSF primaria. La inmunofluorescencia de la biopsia renal mostró expresión glomerular de CD80. Conclusión: La combinación de biomarcadores séricos y urinarios quizás ayude a diferenciar entre diferentes formas de GSF. Niveles elevados de CD80 en orina y suPAR en suero quizás representen un perfil característico que permita diferenciar entre esta forma genética de GSF y GSF de causa primaria (AU)