A5050841714- Dermatology and Skin Diseases
- RNA modifications and cancer
- Genetics and Neurodevelopmental Disorders
- Allergic Rhinitis and Sensitization
- Hedgehog Signaling Pathway Studies
- Genomics and Chromatin Dynamics
- Vitamin D Research Studies
- Asthma and respiratory diseases
- Congenital Ear and Nasal Anomalies
- Biochemical and Molecular Research
- Craniofacial Disorders and Treatments
- Exercise and Physiological Responses
- Cancer and Skin Lesions
- Congenital heart defects research
- Food Allergy and Anaphylaxis Research
- Immunodeficiency and Autoimmune Disorders
- Renal Diseases and Glomerulopathies
- Stress Responses and Cortisol
- HIV/AIDS drug development and treatment
- Oral and Maxillofacial Pathology
- Cancer-related gene regulation
Hospital Universitario Miguel Servet
2019-2023
Abstract Background/Objectives Atopic dermatitis (AD) is the most prevalent inflammatory skin disorder, and often associated with a personal or family history of atopic disease. The presence loss‐of‐function mutations in filaggrin gene ( FLG ) main predisposing factor for AD show ethnic geographical variations, even between European populations. We sought to determine frequency 3 common null population Spanish children consisting healthy controls patients. also investigated association these...
Background Weiss-Kruszka syndrome (WSKA) is a rare disorder caused by mutations in the ZNF462 gene or deletion of 9p31.2 chromosome region, involving ZNF462. The prevalence WSKA unknown as only 24 affected individuals have been described. This should be suspected presenting mild global developmental delay and common craniofacial abnormalities.Case presentation We presented case an infant, 3 years 4-month life who pondostatural psychomotor retardation, generalized hypotonia with...
Fish-eye disease (FED) is due to a partial deficiency in LCAT activity. Nevertheless, Familial lecithin-cholesterol acyltransferase (FLD), also called Norum disease, appears when the complete. They are both rare genetic disorders inherited an autosomal recessive manner. Clinical signs include decreased circulating HDL cholesterol and dense corneal opacity. Kidney injuries affect patients suffering from FLD. The diagnosis of FLD based on presence characteristic symptoms confirmed by...
Abstract Background Lamb–Shaffer syndrome (LAMSHF) is a rare neurodevelopmental disorder caused by heterozygous mutation or microdeletion involving the SOX5 gene. LAMSHF characterize developmental delay, intellectual disability, poor expressive speech, mild dysmorphic facial features and skeletal abnormalities. Case presentation We presented case of child with delayed psychomotor development in all areas, scoliosis, peculiar facies, suspicion intermittent endotropia, alteration alignment one...
Atopic dermatitis (AD) is the most prevalent inflammatory skin disorder, characterized by impaired epidermal barrier function and an altered immune response, both of which are influenced vitamin D deficiency. Single-nucleotide polymorphisms (SNPs) in VDR CYP24A1 have been previously associated with AD.We sought to characterize associations between lipid biochemical profile children diagnosed AD.A total 246 participants (143 patients AD 103 healthy controls) were enrolled this study....
Abstract Background Gorlin syndrome (GS) is a rare genetic disorder inherited in an autosomal dominant manner caused by variants PTCH1 , SUFU, or PTCH2 genes. It characterized multiple basal cell carcinomas, odontogenic keratocysts, skeletal abnormalities, and predisposition to neoplasms. Case presentation A novel splice-site variant the gene, c.3549+1G>T classified as pathogenic, was identified patient with phenotype compatible GS (multiple carcinomas malformations). Conclusions This...
Abstract Background Rahman syndrome (RMNS) is a rare genetic disorder inherited in an autosomal dominant manner caused by de novo mutation H1-4 gene. Since there are few cases described the literature, prevalence of unknown. RMNS should be suspected individuals presenting mild to severe intellectual disability associated with behavioural problems. Case presentation A novel variant gene: c.139G > C p.(Ala47Pro), classified as likely pathogenic, was identified patient phenotype compatible...
<sec> <title>BACKGROUND</title> Atopic dermatitis (AD) is the most prevalent inflammatory skin disorder, characterized by impaired epidermal barrier function and an altered immune response, both of which are influenced vitamin D deficiency. Single-nucleotide polymorphisms (SNPs) in <i>VDR</i> <i>CYP24A1</i> have been previously associated with AD. </sec> <title>OBJECTIVE</title> We sought to characterize associations between lipid biochemical profile children...