Caracterización de los pacientes con hipotiroidismo congénito en Cali, Colombia: 2001-2017: Characterization of patients with congenital hypothyroidism in Cali, Colombia: 2001-2017

Introduction. Congenital hypothyroidism is the leading cause of preventable cognitive deficit. Timely diagnosis and treatment ensure adequate neurological and physical development of patients. Objective. To describe the sociodemographic and clinical characteristics of patients with congenital hypothyroidism of two pediatric endocrinology centers in Cali; and to determine the differences during screening and follow-up between patients with transient and permanent congenital hypothyroidism. Materials and methods. A descriptive and retrospective analysis was carried out based on the information in the medical records of patients with congenital hypothyroidism treated by the pediatric endocrinology service of Hospital Universitario del Valle and Centro Médico Farallones, during 2001 and 2017. Results 104 cases were collected. 53.8% had a diagnosis of permanent congenital hypothyroidism, 8.6% transitory and 37.5% could not establish temporality. The average confirmatory TSH value for the permanent congenital hypothyroidism group was 75 (IQR 13.2-120) compared to the transitory group 8.8 (IQR 5.38-43.25). Short stature was recorded in 17.3%, neurological development delay in 31.7% and neurodevelopmental therapy in 23%. Umbilical cord TSH was positive in 72%. Conclusions The high rates of alteration in neurodevelopment show a problem in the follow-up and care of patients. TSH values maybe useful to predict permanent hypothyroidism and help to perform additional test before 3 years old.  Introducción: El hipotiroidismo congénito es la principal causa de déficit cognitivo prevenible. El diagnóstico y tratamiento oportuno aseguran un adecuado desarrollo neurológico y físico de los pacientes. Objetivo: Describir las características sociodemográficas y clínicas de los pacientes con hipotiroidismo congénito de dos centros de consulta de endocrinología pediátrica en Cali; y determinar las diferencias durante el tamizaje y seguimiento entre los pacientes con hipotiroidismo congénito transitorio y permanente. Materiales y métodos: Se realizó un análisis descriptivo y retrospectivo a partir de la información consignada en las historias clínicas de los pacientes con hipotiroidismo congénito atendidos por el servicio de endocrinología pediátrica del Hospital Universitario del Valle y el Centro médico Farallones, diagnosticados entre 2001 y 2017. Resultados: Se recolectaron 104 casos. El 53,8% tuvo diagnóstico de hipotiroidismo congénito permanente, 8,6% transitorio y en 37,5% no se pudo establecer la temporalidad. El promedio del valor de TSH confirmatoria para el grupo de hipotiroidismo congénito permanente fue de 75 μIU/ml (RIC 13.2-120) en comparación con el grupo de transitorio 8.8 μIU/ml (RIC 5.38-43.25). Se registró talla baja en el 17,3%, retraso en el desarrollo neurológico en el 31,7% y recibieron terapia de neurodesarrollo en 23%. Por tamizaje neonatal se detectó el 72%. Conclusiones: Las altas tasas de alteración en el neurodesarrollo evidencian un problema en el seguimiento y en la atención de los pacientes. Los valores de TSH podrían predecir la etiología permanente del hipotiroidismo y apoyarían la justificación del estudio antes de los 3 años

The Iowa Homemaker vol.10, no.2

Coeds of the Naughty Ninties by Mary Morrison Beyer, page 1 Color in the Garden by Edna Rhoades, page 2 The Tragedy of Errors by Marjorie W. Smith, page 3 Where Toothbrushes Grow on Trees by Nellie Goethe, page 3 Architectural Features in Small Gardens by Margaret Jane Walker, page 4 Y. W. C. A.’s Fortieth Birthday by Ila Woodburn, page 5 4-H Club by Helen Melton, page 6 State Association by Marcia E. Turner, page 8 Child Health May Day by Anafred Stephenson, page 10 Editorial, page 11 Alumnae News by Dorothy B. Anderson, page 12 Tid Bits for Home Economics by Edith Roberts and Nellie Goethe, page 1

Blood DNA methylation and liver cancer in American Indians: evidence from the Strong Heart Study

Purpose: Liver cancer incidence among American Indians/Alaska Natives has risen over the past 20 years. Peripheral blood DNA methylation may be associated with liver cancer and could be used as a biomarker for cancer risk. We evaluated the association of blood DNA methylation with risk of liver cancer. Methods: We conducted a prospective cohort study in 2324 American Indians, between age 45 and 75 years, from Arizona, Oklahoma, North Dakota and South Dakota who participated in the Strong Heart Study between 1989 and 1991. Liver cancer deaths (n = 21) were ascertained using death certificates obtained through 2017. The mean follow-up duration (SD) for non-cases was 25.1 (5.6) years and for cases, 11.0 (8.8) years. DNA methylation was assessed from blood samples collected at baseline using MethylationEPIC BeadChip 850 K arrays. We used Cox regression models adjusted for age, sex, center, body mass index, low-density lipoprotein cholesterol, smoking, alcohol consumption, and immune cell proportions to examine the associations. Results: We identified 9 CpG sites associated with liver cancer. cg16057201 annotated to MRFAP1) was hypermethylated among cases vs. non-cases (hazard ratio (HR) for one standard deviation increase in methylation was 1.25 (95% CI 1.14, 1.37). The other eight CpGs were hypomethylated and the corresponding HRs (95% CI) ranged from 0.58 (0.44, 0.75) for cg04967787 (annotated to PPRC1) to 0.77 (0.67, 0.88) for cg08550308. We also assessed 7 differentially methylated CpG sites associated with liver cancer in previous studies. The adjusted HR for cg15079934 (annotated to LPS1) was 1.93 (95% CI 1.10, 3.39). Conclusions: Blood DNA methylation may be associated with liver cancer mortality and may be altered during the development of liver cancer.This work was supported by grants from the National Heart, Lung, and Blood Institute (NHLBI) (Contract Numbers 75N92019D00027, 75N92019D00028, 75N92019D00029 and 75N92019D00030) and previous Grants (R01HL090863, R01HL109315, R01HL109301, R01HL109284, R01HL109282, and R01HL109319 and Cooperative Agreements: U01HL41642, U01HL41652, U01HL41654, U01HL65520 and U01HL65521); by the National Institute of Environmental Health Sciences (Grant Numbers R25ES025505, R01ES032638, R01ES021367, R01ES025216, P42ES033719, P30ES009089); by the Chilean CONICYT/FONDECYT-POSTDOCTORADO Nº 3180486 and by a fellowship from “la Caixa” Foundation (ID 100010434) (fellowship code “LCF/BQ/DR19/11740016”). The funders had no role in the planning, conducting, analysis, interpretation, or writing of this study. The content of this manuscript is solely the responsibility of the authors and does not necessarily represent the ofcial views of the National Institutes of Health (United States) or the National Health Institute Carlos III (Spain).S

Quantitative principles of cis-translational control by general mRNA sequence features in eukaryotes.

BackgroundGeneral translational cis-elements are present in the mRNAs of all genes and affect the recruitment, assembly, and progress of preinitiation complexes and the ribosome under many physiological states. These elements include mRNA folding, upstream open reading frames, specific nucleotides flanking the initiating AUG codon, protein coding sequence length, and codon usage. The quantitative contributions of these sequence features and how and why they coordinate to control translation rates are not well understood.ResultsHere, we show that these sequence features specify 42-81% of the variance in translation rates in Saccharomyces cerevisiae, Schizosaccharomyces pombe, Arabidopsis thaliana, Mus musculus, and Homo sapiens. We establish that control by RNA secondary structure is chiefly mediated by highly folded 25-60 nucleotide segments within mRNA 5' regions, that changes in tri-nucleotide frequencies between highly and poorly translated 5' regions are correlated between all species, and that control by distinct biochemical processes is extensively correlated as is regulation by a single process acting in different parts of the same mRNA.ConclusionsOur work shows that general features control a much larger fraction of the variance in translation rates than previously realized. We provide a more detailed and accurate understanding of the aspects of RNA structure that directs translation in diverse eukaryotes. In addition, we note that the strongly correlated regulation between and within cis-control features will cause more even densities of translational complexes along each mRNA and therefore more efficient use of the translation machinery by the cell

Healthy Nebraska: Advancing Human Health and Developing Healthy Communities

Healthy Nebraska: Advancing Human Health and Developing Healthy Communities Every day, the Institute of Agriculture and Natural Resources (IANR) is putting together a wickedly complex puzzle, in which each faculty member, researcher, Extension educator, student, staff member, partner and stakeholder is a vitally important piece. As the pieces come together, we see a picture of the world in which IANR is making a meaningful difference in sustainable food, fuel, feed, and fiber production

The Incidence of Molluscum contagiosum among American Indians and Alaska Natives

The epidemiology of Molluscum contagiosum (MC) in the United States is largely unknown, despite the fact that the virus is directly communicable and large outbreaks occur. This study provides population-based estimates to describe the epidemiology of MC in the United States among American Indian and Alaska Native (AI/AN) persons. This population was selected because of the comprehensiveness and quality of available data describing utilization of out-patient services.Outpatient visits listing MC as a diagnosis in the Indian Health Service National Patient Information Reporting System during 2001-2005 were analyzed to assess patient characteristics, visit frequency and concurrent skin conditions. Outpatient visit rates and incidence rates were calculated based on known population denominators (retrospective cohort). Overall outpatient visit rates were also calculated for the general US population using national data. The average annual rate of MC-associated outpatient visits was 20.15/10,000 AI/AN persons for 2001-2005 (13,711 total visits), which was similar to the rate for the general US population (22.0/10,000 [95% CI: 16.9-27.1]). The incidence of MC-associated visits was 15.34/10,000. AI/AN children 1-4 years old had the highest incidence (77.12), more than twice that for children 5-14 years old (30.79); the incidence for infants (<1 year) was higher than that for adults. AI/AN persons living in the West region had the highest incidence, followed by those in the East and Alaska regions (26.96, 22.88 and 21.38, respectively). There were age-specific associations between MC and concurrent skin conditions (e.g., atopic dermatitis, eczema).This study highlights the need for periodic population-based measurements to assess trends in incidence and healthcare utilization for MC in the United States. High rates of MC were found among AI/AN persons, especially among children <15 years old. The AI/AN population would benefit from greater availability of effective strategies for prevention and treatment of MCV infection

Tecnología en Endocrinología: tiempos, conceptos e implementación

Propósito. La ciencia aplicada, una de las aristas definitorias de la tecnología, ha tenido un acercamiento a la medicina desde su aurora; dicho aspecto llega a lo más profundo de la Endocrinología. El presente texto tiene por objetivo denotar conceptos de aproximación, para así describir la implementación práctica del tándem entre tecnología y Endocrinología en los diferentes tiempos que lo han acompañado. Contenidos. Se empieza con algunos elementos históricos puntuales de encuentro entre la tecnología y la Endocrinología. Posteriormente, se introduce un concepto de vibrante vigencia: el tiempo en rango como métrica del control glucémico en la actualidad. Se reconoce el rol protagónico del monitoreo continuo de glucosa en la diabetes, al igual que se exploran sus potenciales usos. En el cuarto capítulo se hace un alto en el camino para comprender la inmediación entre la matemática y la Endocrinología. En los dos últimos capítulos se hace una inmersión al mundo de los ecosistemas digitales, a través del camino de la inteligencia artificial y recursos funcionales como la apps. Conclusiones. El apasionante mundo de la tecnología nos seduce cada vez más en los diferentes ámbitos; su relación con la Endocrinología es y será en el tiempo de una contundencia irrebatible. De esta manera, se ofrece una invitación abierta a vivir los procesos venideros de dicha fusión conceptual

The Physical and Genetic Framework of the Maize B73 Genome

Maize is a major cereal crop and an important model system for basic biological research. Knowledge gained from maize research can also be used to genetically improve its grass relatives such as sorghum, wheat, and rice. The primary objective of the Maize Genome Sequencing Consortium (MGSC) was to generate a reference genome sequence that was integrated with both the physical and genetic maps. Using a previously published integrated genetic and physical map, combined with in-coming maize genomic sequence, new sequence-based genetic markers, and an optical map, we dynamically picked a minimum tiling path (MTP) of 16,910 bacterial artificial chromosome (BAC) and fosmid clones that were used by the MGSC to sequence the maize genome. The final MTP resulted in a significantly improved physical map that reduced the number of contigs from 721 to 435, incorporated a total of 8,315 mapped markers, and ordered and oriented the majority of FPC contigs. The new integrated physical and genetic map covered 2,120 Mb (93%) of the 2,300-Mb genome, of which 405 contigs were anchored to the genetic map, totaling 2,103.4 Mb (99.2% of the 2,120 Mb physical map). More importantly, 336 contigs, comprising 94.0% of the physical map (∼1,993 Mb), were ordered and oriented. Finally we used all available physical, sequence, genetic, and optical data to generate a golden path (AGP) of chromosome-based pseudomolecules, herein referred to as the B73 Reference Genome Sequence version 1 (B73 RefGen_v1)

Scalable whole-exome sequencing of cell-free DNA reveals high concordance with metastatic tumors

Whole-exome sequencing of cell-free DNA (cfDNA) could enable comprehensive profiling of tumors from blood but the genome-wide concordance between cfDNA and tumor biopsies is uncertain. Here we report ichorCNA, software that quantifies tumor content in cfDNA from 0.1× coverage whole-genome sequencing data without prior knowledge of tumor mutations. We apply ichorCNA to 1439 blood samples from 520 patients with metastatic prostate or breast cancers. In the earliest tested sample for each patient, 34% of patients have ≥10% tumor-derived cfDNA, sufficient for standard coverage whole-exome sequencing. Using whole-exome sequencing, we validate the concordance of clonal somatic mutations (88%), copy number alterations (80%), mutational signatures, and neoantigens between cfDNA and matched tumor biopsies from 41 patients with ≥10% cfDNA tumor content. In summary, we provide methods to identify patients eligible for comprehensive cfDNA profiling, revealing its applicability to many patients, and demonstrate high concordance of cfDNA and metastatic tumor whole-exome sequencing