Trastornos genéticos con eccema moderado-grave refractario y elevación de inmunoglobulina E: diagnóstico diferencial

Aguilera, Cintia Arjona; Planelles, Cristina Albarrán; Sánchez, Jesús Tercedor

doi:10.1016/j.ad.2015.09.013

Actas Dermo-Sifiliográficas

2016

DOI: 10.1016/j.ad.2015.09.013

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Trastornos genéticos con eccema moderado-grave refractario y elevación de inmunoglobulina E: diagnóstico diferencial

Cintia Arjona Aguilera

Cristina Albarrán Planelles

Jesús Tercedor Sánchez

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Cited by 5 publications

References 16 publications

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Clinical and gonadal transcriptome analysis of 38,XX disorder of sex development pigs

Wu,

Tan,

Zhou

et al. 2024

Biology of Reproduction

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Pigs serve as a robust animal model for the study of human diseases, notably in the context of disorders of sex development (DSD). This study aims to investigate the phenotypic characteristics and molecular mechanisms underlying the reproductive and developmental abnormalities of 38,XX ovotestis-DSD (OT-DSD) and 38,XX testis-DSD (T-DSD) in pigs. Clinical and transcriptome sequencing analyses were performed on DSD and normal female pigs. Cytogenetic and SRY analyses confirmed that OT/T-DSD pigs exhibited a 38,XX karyotype and lacked the SRY gene. The DSD pigs had higher levels of follicle-stimulating hormone, luteinizing hormone, and progesterone, but lower testosterone levels when compared with normal male pigs. The reproductive organs of OT/T-DSD pigs exhibit abnormal development, displaying both male and female characteristics, with an absence of germ cells in the seminiferous tubules. Sex determination and development-related differentially-expressed genes (DEGs) shared between DSD pigs were identified in the gonads, including WT1, DKK1, CTNNB1, WTN9B, SHOC, PTPN11, NRG1 and NXK3–1. DKK1 is proposed as a candidate gene for investigating the regulatory mechanisms underlying gonadal phenotypic differences between OT-DSD and T-DSD pigs. Consequently, our findings provide insights into the molecular pathogenesis of DSD pigs and present an animal model for studying into DSD in humans.

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Clinical and gonadal transcriptome analysis of 38,XX disorder of sex development pigs

Wu,

Tan,

Zhou

et al. 2024

Biology of Reproduction

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Clinical and molecular diagnosis of genodermatoses: Review and perspectives

Salik

Richert

Smits

2022

Acad Dermatol Venereol

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Genodermatoses are a complex and heterogeneous group of genetic skin disorders characterized by variable expression and clinical and genetic heterogeneity, rendering their diagnosis challenging. DNA‐based techniques, like whole‐exome sequencing, can establish a diagnosis in 50% of cases. RNA‐sequencing is emerging as an attractive tool that can obtain information regarding gene expression while integrating functional genomic data with regard to the interpretation of variants. This increases the diagnostic rate by an additional 10–15%. In the present review, we detail the clinical steps involved in the diagnosis of genodermatoses, as well as the current DNA‐based technologies available to clinicians. Herein, the intention is to facilitate a better understanding of the possibilities and limitations of these diagnostic technologies. In addition, this review could guide dermatologists through new emerging techniques, such as RNA‐sequencing and its applications to familiarizing them with future techniques. Currently, this multi‐omics approach is likely the best strategy designed to promote the diagnosis of patients with genodermatoses and discover new skin disease genes that could result in novel targeted therapies.

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Guidance for assessment of erythroderma in neonates and infants for the pediatric immunologist

Ott

2019

Pediatric Allergy Immunology

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Neonatal and infantile erythroderma (NIE) represents the common clinical phenotype of heterogeneous diseases ranging from benign and transient skin conditions to fatal multiorgan disorders. NIE regularly demands a comprehensive diagnostic workup in a multiprofessional setting, especially if newborns and young infants with the disease develop a failure to thrive and concomitant infectious, neurologic, or metabolic complications. By obtaining a detailed medical history and performing a thorough clinical examination, targeted diagnostic steps can be scheduled for most affected children. If NIE occurs in the early neonatal period, lesional skin biopsy and histology are often indicated. Likewise, if monogenic skin or immunologic diseases are suspected, genetic testing with customized panels of potentially underlying genes is mandatory. Of note, if acute symptoms such as severe infections, metabolic acidosis, or seizures occur, rapid microbiologic and metabolic investigations are warranted to rule out immunodeficiency and inborn errors of metabolism.

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Trastornos genéticos con eccema moderado-grave refractario y elevación de inmunoglobulina E: diagnóstico diferencial

Cited by 5 publications

References 16 publications

Clinical and gonadal transcriptome analysis of 38,XX disorder of sex development pigs

Clinical and gonadal transcriptome analysis of 38,XX disorder of sex development pigs

Clinical and molecular diagnosis of genodermatoses: Review and perspectives

Guidance for assessment of erythroderma in neonates and infants for the pediatric immunologist

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