Impacto de la enfermedad genética en los ingresos hospitalarios en un Servicio de Pediatría

Moyá, Ana; Hernández, Marta; Mellado, Cecília

doi:10.4067/s0034-98872016000200007

Cited by 4 publications

(2 citation statements)

References 10 publications

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“…2 Indeed, a large part (30-70%) of genetic disorders have been attributed to DNMs 3–5 , accounting for a majority of inpatient pediatric admissions. 6,7 Despite the clear importance of DNMs for individual and population health, there remain major gaps in our understanding of the endogenous and exogenous variables that mediate the rate, spectrum, and distribution of these mutations in the human genome.…”

Section: Introductionmentioning

confidence: 99%

Frequency and spectrum of mutations in human sperm measured using duplex sequencing correlate with trio-basedde novomutation analyses

Axelsson,

LeBlanc,

Shojaeisaadi

et al. 2024

Preprint

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De novo mutations (DNMs) are drivers of genetic disorders. However, the study of DNMs is hampered by technological limitations preventing accurate quantification of ultra-rare mutations. Duplex Sequencing (DS) theoretically has < 1 error/billion base-pairs (bp). To determine the utility of DS to quantify and characterize DNMs, we analyzed DNA from blood and spermatozoa from six healthy, 18-year-old Swedish men using the TwinStrand DS mutagenesis panel (48 kb spanning 20 genic and intergenic loci). The mean single nucleotide variant mutation frequency (MF) was 1.2 x 10-7 per bp in blood and 2.5 x 10-8 per bp in sperm, with the most common base substitution being C>T. Blood MF and substitution spectrum were similar to those reported in blood cells with an orthogonal method. The sperm MF was in the same order of magnitude and had a strikingly similar spectrum to DNMs from publicly available whole genome sequencing data from human pedigrees (1.2 x 10-8 per bp). DS revealed much larger numbers of insertions and deletions in sperm over blood, driven by an abundance of putative extra-chromosomal circular DNAs. The study indicates the strong potential of DS to characterize human DNMs to inform factors that contribute to disease susceptibility and heritable genetic risks.

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Section: Introductionmentioning

confidence: 99%

Frequency and spectrum of mutations in human sperm measured using duplex sequencing correlate with trio-basedde novomutation analyses

Axelsson,

LeBlanc,

Shojaeisaadi

et al. 2024

Preprint

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“…9 En Chile, las enfermedades monogénicas causan 5.5% de las admisiones hospitalarias a los servicios de pediatría. 10 En 2017, Malam y colaboradores encontraron que 16% de los pacientes internados en unidades de cuidados intensivos neonatales y 5.5% de los internados en unidades de cuidados intensivos pediátricos correspondieron a trastornos genéticos. 11 Por su parte, Jouvet refiere que 2.2% de las hospitalizaciones en la unidad de cuidados intensivos pediátricos del Hospital Necker de París correspondieron a errores innatos del metabolismo intermediario.…”

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et al. 2020

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Los errores innatos del metabolismo son causantes de una importante morbilidad y mortalidad que contribuyen a la carga hospitalaria pediátrica.OBJETIVO: Analizar la cantidad, tipo, causa, edad a la que ocurrieron y evolución de las hospitalizaciones de los pacientes con errores innatos del metabolismo intermediario, en un centro de tercer nivel de atención pediátrica. MATERIALES Y MÉTODOS:Análisis retrospectivo de hospitalizaciones urgentes y electivas de una serie de casos con errores innatos del metabolismo intermediario. Se recabaron los motivos de ingreso y egreso, datos clínicos, demográficos, tiempo, fecha de hospitalización y servicio que dio la atención. RESULTADOS:En 36 meses ocurrieron 100 hospitalizaciones (88 urgencias y 12 electivas) en 39 pacientes. Los pacientes con descompensaciones metabólicas asociadas con manifestaciones gastrointestinales, infecciosas y respiratorias, y los defectos de propionato fueron los que con más frecuencia se internaron en Urgencias (47.7%); fallecieron 3 pacientes (tirosinemia, acidemia glutárica II y jarabe de maple). La causa principal de internamiento electivo fue para gastrostomía. El 20.6% tuvo tamiz neonatal para errores innatos del metabolismo intermediario. En nuestro centro de referencia, los pacientes con errores innatos del metabolismo intermediario representan 2.6% de las hospitalizaciones de urgencias y 0.42% de las admisiones hospitalarias totales, con mortalidad de 8.8%. Se registraron 2.6 hospitalizaciones por mes, sobre todo por descompensación metabólica.CONCLUSIONES: Los pediatras deben estar capacitados para atender a estos pacientes y las instituciones deben contar con recursos humanos y económicos para ello.

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The burden of rare diseases

Ferreira

2019

American J of Med Genetics Pt A

322

220

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The subject of rare disease numbers is rife with misconceptions, not just in websites and other layman's literature, but also in the medical literature. Various websites mention numbers that are not validated by any solid data, while in turn the medical literature cites the aforementioned websites as sources, thus perpetuating a number of myths about rare diseases and their burden. We review the existing literature on rare disease numbers, in an attempt to demystify the subject. Specifically, we summarize data pertaining to: (a) known number and cumulative prevalence of rare diseases; (b) rare disease‐associated mortality; (c) rare disease‐associated morbidity, including numbers on health care services related to rare diseases; and (d) orphan drug numbers.

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Impacto de la enfermedad genética en los ingresos hospitalarios en un Servicio de Pediatría

Cited by 4 publications

References 10 publications

Frequency and spectrum of mutations in human sperm measured using duplex sequencing correlate with trio-basedde novomutation analyses

Frequency and spectrum of mutations in human sperm measured using duplex sequencing correlate with trio-basedde novomutation analyses

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The burden of rare diseases

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