HIDALGO OTTOLENGHI, JOSÉ RICARDO
Preferred name
HIDALGO OTTOLENGHI, JOSÉ RICARDO
Main Affiliation
ORCID
0000-0002-0708-8178
Scopus Author ID
56246158500
14 results
Now showing 1 - 10 of 14
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Item type:Publication, Quality of clinical practice guidelines about red blood cell transfusion(Wiley, 2018-12-03); - Some of the metrics are blocked by yourconsent settings
Item type:Publication, Exercise training for adult lung transplant recipients(Wiley, 2021-07-20) - Some of the metrics are blocked by yourconsent settings
Item type:Publication, Identification of mutations on the EMD and EYA4 genes associated with Emery–Dreifuss muscular dystrophy and deafness: a case report(Frontiers Media SA, 2023-05-12); ; ; José Luis Laso-Bayas<jats:sec><jats:title>Introduction</jats:title><jats:p>Hearing loss is the most common sensory disability, and it is estimated that 50% of cases are caused by genetic factors. One of the genes associated with deafness is the eyes absent homolog 4 (<jats:italic>EYA4</jats:italic>) gene, a transcription factor related to the development and function of the inner ear. Emery–Dreifuss muscular dystrophy is a rare inherited disease characterized by atrophy and weakness of the humeroperoneal muscles, multi-joint contractures, and cardiac manifestations. It is inherited in an autosomal-dominant, X-linked, or less frequently autosomal recessive manner; one of the genes associated with EDMD is the emerin (<jats:italic>EMD)</jats:italic> gene.</jats:p></jats:sec><jats:sec><jats:title>Case description</jats:title><jats:p>A total of two Ecuadorian siblings aged 57 (Subject A) and 55 (Subject B) were diagnosed with deafness and an unspecified type of muscular dystrophy based on family history and clinical findings. Next-generation sequencing (NGS) using the TruSight Cardio and Inherited Disease kits at the Centro de Investigación Genética y Genómica CIGG, Universidad UTE, was performed. The genetic analyses showed two mutations: a stop mutation in exon 11/20 (NM_004100.4:c.940G&gt;T) of the <jats:italic>EYA4</jats:italic> gene and a missense mutation in exon 6 (NM_000117.2:c.548C&gt;G) of the <jats:italic>EMD</jats:italic> gene.</jats:p></jats:sec><jats:sec><jats:title>Discussion and conclusion</jats:title><jats:p>The <jats:italic>in silico</jats:italic> predictions described the <jats:italic>EYA4</jats:italic> variant as likely pathogenic and the <jats:italic>EMD</jats:italic> variant as a variant of uncertain significance (VUS). Moreover, an ancestry analysis was performed using 46 Ancestry Informative Insertion/Deletion Markers (AIM-InDels), and the ancestral composition of subject A was 46% African, 26.1% European, and 27.9% American Indian ancestry, whereas the ancestral composition of subject B was 41.3% African, 38.2% European, and 20.5% American Indian ancestry. The present case report describes two Ecuadorian siblings with a mainly African ancestral component, muscular dystrophy, and deafness phenotypes. Moreover, using next-generation sequencing (NGS), a mutation in the <jats:italic>EMD</jats:italic> and a novel mutation in <jats:italic>EYA4</jats:italic> genes possibly associated with the subjects' phenotype were identified and discussed.</jats:p></jats:sec> - Some of the metrics are blocked by yourconsent settings
Item type:Publication, Weighty matters: Unraveling the impact of obesity on colorectal cancer and nutritional interventions(Elsevier BV, 2025-09-01) - Some of the metrics are blocked by yourconsent settings
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Item type:Publication, Leukodepleted Packed Red Blood Cells Transfusion in Patients Undergoing Major Cardiovascular Surgical Procedure: Systematic Review and Meta-Analysis(Hindawi Limited, 2019-02-25); - Some of the metrics are blocked by yourconsent settings
Item type:Publication, Cross-sectional study of child and adolescent growth in Ecuador(Universidad Nacional de La Plata, 2019-06-18); Claude Monnier<jats:p>Child growth is internationally recognized as an important indicator for monitoring health in populations. There exists a wide controversy regarding the use of international growth standards versus local references. This study seeks to construct reference growth curves for school-age Ecuadorian children and adolescents, and to compare them with World Health Organization (WHO) standards, in order to identify the differences and their public health implications. The study authors enrolled 2891 children (1644 girls and 1247 boys) aged 5 to 18 years, from a variety of climatic zones and ethnic groups. LMS method was used to construct Ecuadorian curves for height, weight and Body Mass Index. Comparisons of Ecuadorian and WHO curves were graphically illustrated. U.S children were taller than Ecuadorian children across all age ranges, with larger differences between the two populations in children over 13 years. Consequently, estimates of low height and extremely low height, as well as overweight, obese and undernourished, were significantly different between WHO standards and the Ecuadorian references. Population-specific growth curves may be more adequate for growth monitoring of Ecuadorian children than WHO growth curves. We advocate for the construction of an Ecuadorian growth reference for clinical use based on national population, from conception to maturity, as an accurate instrument for monitoring growth.</jats:p> - Some of the metrics are blocked by yourconsent settings
Item type:Publication, Vaccines for the common cold(Wiley, 2022-12-14); ; ; Maria José Martinez-Zapata - Some of the metrics are blocked by yourconsent settings
Item type:Publication, Unlocking the potential: very-low-energy ketogenic therapy in obesity-related disorders(Informa UK Limited, 2025-01-16); - Some of the metrics are blocked by yourconsent settings
Item type:Publication, Imatinib for treating patients with chronic myelogeneous leukemia(Wiley, 2015-10-30); ; Luis Ernesto González