Search Results - "Aguirre, Alex S"

Expanding diversity within phenylketonuria in ecuadorian patients: genetic analysis and literature review of newborn screenings by Aguirre, Alex S., Haro, Edison, Campodónico, Alberto, Arias-Almeida, Benjamín, Mendoza, Alissa, Pozo-Palacios, Juan, Aguilar, Vanessa Isabel Romero

“…Phenylketonuria (PKU) is an autosomal recessive metabolic disorder caused by a deficiency in the phenylalanine hydroxylase (PAH) enzyme, leading to the…”
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Clinical description of a homozygous Lys 1169 variant in the DYSF gene associated with autosomal recessive Miyoshi muscular dystrophy type 1: A familial case report by Aguirre, Alex S., Romero, Vanessa I.

“…Miyoshi Muscular Dystrophy Type 1 is a rare autosomal recessive myopathy caused by mutations in the dysferlin (DYSF) gene. This disease presents with…”
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Pediatric traumatic brain injuries in war zones: a systematic literature review by Aguirre, Alex S., Rojas, Kenny, Torres, Alcy R.

“…Background Pediatric casualties in war zones are a devastating consequence of armed conflicts, causing significant challenges for affected children, especially…”
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Navigating phenylketonuria management to improve it in Latin America: a systematic literature review and applicability analysis by Aguirre, Alex S, Haro, Edison, Campodónico, Alberto, Mendoza, Alissa, Bahamonde, Bernarda, Romero, Vanessa I

“…Phenylketonuria (PKU) is an autosomal recessive metabolic disorder resulting from phenylalanine hydroxylase deficiency, which impacts neurodevelopment…”
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Relevance of Fluorodopa PET Scan in Dopamine Responsive Dystonia and Juvenile Parkinsonism: A Systematic Review by Moncayo, Juan A, Vargas, Maite, Ortiz, Juan F, Granda, Pablo, Aguirre, Alex S, Argudo, Jennifer, Tambo, Willians, Garofalo, Gabriela, Capirig, Christian John, German-Montenegro, Melisa, Rueda, Luis G

“…Dopamine Responsive Dystonia (DRD) and Juvenile Parkinsonism (JP) are two diseases commonly presenting with parkinsonian symptoms in young patients. Current…”
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Reversible Cerebral Vasoconstriction Syndrome in the Postpartum Period: A Systematic Review and Meta-Analysis by Pacheco, Kimberly, Ortiz, Juan Fernando, Parwani, Jashank, Cruz, Claudio, Yépez, Mario, Buj, Maja, Khurana, Mahika, Ojeda, Diego, Iturburu, Alisson, Aguirre, Alex S., Yuen, Ray, Datta, Shae

“…(1) Background: Reversible cerebral vasoconstriction syndrome (RCVS) encompasses a clinical and radiological diagnosis characterized by recurrent thunderclap…”
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Neuroimaging in the Rare Sleep Disorder of Kleine-Levin Syndrome: A Systematic Review by Ortiz, Juan Fernando, Argudo, Jennifer M, Yépez, Mario, Moncayo, Juan Andrés, Tamton, Hyder, Aguirre, Alex S, Patel, Ghanshyam, Sen, Meghdeep, Mistry, Ayushi, Yuen, Ray, Eissa-Garces, Ahmed, Ojeda, Diego, Ruxmohan, Samir

“…Kleine-Levin syndrome (KLS) is characterized by episodes of hypersomnia. Additionally, these patients can present with hyperphagia, hypersexuality, abnormal…”
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Use of Riluzole for the Treatment of Hereditary Ataxias: A Systematic Review by Ayala, Iván Nicolas, Aziz, Syed, Argudo, Jennifer M, Yepez, Mario, Camacho, Mikaela, Ojeda, Diego, Aguirre, Alex S, Oña, Sebastian, Andrade, Andres F, Vasudhar, Ananya, Moncayo, Juan A, Hassen, Gashaw, Ortiz, Juan Fernando, Tambo, Willian

“…Ataxia is a constellation of symptoms that involves a lack of coordination, imbalance, and difficulty walking. Hereditary ataxia occurs when a person is born…”
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A Complex Presentation of Vestibular Paroxysmia in an Adolescent With Wolff- Parkinson-White Syndrome by Nunez, Manuel, Ruprecht, Michal T., Aguirre, Alex S., Torres, Alcy

“…Vestibular paroxysmia is an episodic vestibular disorder resulting from compression or irritation of the eighth cranial nerve. This disorder is a rare and…”
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Acute meningitis followed by Campylobacter jejuni associated Guillain-Barré Syndrome in a pediatric patient with COVID-19: a case report by Aguirre, Alex S., Terán, Kelly L., López, Dennis

“…Aim of the study: The association of GBS and meningitis in a pediatric population is infrequent. Given the limited number of reported cases from pediatric…”
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Atypical presentation of dysembryoplastic neuroepithelial tumor in an adult without epilepsy: a case report by Vivanco, Ricardo A., Aguirre, Alex S., Montero, Marcelo, Perez-Davila, Mauricio, Baehring, Joachim

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Enhancing Protocols for Concussion Management in Professional Soccer Events by Pangrazio, Osvaldo, Forriol, Francisco, Aguirre, Alex S, Beletanga, Maria D, Torres, Alcy R

“…Every year, there are an estimated 1.7 to 3.8 million sports-related traumatic brain injuries. A sports concussion results from an external force or a blow to…”
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Efficacy of Rituximab in CANOMAD: A Systematic Review by Aguirre, Alex S, Vivanco, Ricardo A, Ortiz, Juan Fernando, Rozen, Valery, InsuastI, Walter E, Fiallos, John, Gallegos, Camila, Villavicencio, Andrea, Salazar, Kevin, Duenas, Francisco, Singla, Ramit

“…CANOMAD, characterized by chronic ataxic neuropathy, ophthalmoplegia, immunoglobulin M (IgM) paraprotein, cold agglutinins, and disialosyl antibodies,…”
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Treatment of Facioscapulohumeral Muscular Dystrophy (FSHD): A Systematic Review by Aguirre, Alex S, Astudillo Moncayo, Olga M, Mosquera, Johanna, Muyolema Arce, Veronica E, Gallegos, Camila, Ortiz, Juan Fernando, Andrade, Andres F, Oña, Sebastian, Buj, Maja J

“…Facioscapulohumeral muscular dystrophy (FSHD) is the third most common type of muscular dystrophy. This disease presents as a slowly progressive asymmetric…”
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Use of Levodopa After a Stroke: A Systematic Review by Moncayo, Juan A, Yepez, Mario, Camacho, Mikaela, Aguirre, Alex S, Ojeda, Diego, Ortiz, Juan Fernando, Sen, Meghdeep, Argudo, Jennifer, Proano, Lucia, Cordova, Steven, Kothari, Nishel

“…Stroke is a leading cause of death and disability, especially in certain ethnic groups. Impaired consciousness is a common outcome in stroke patients, serving…”
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Arginine for the Treatment of Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes: A Systematic Review by Argudo, Jennifer M, Astudillo Moncayo, Olga M, Insuasti, Walter, Garofalo, Gabriela, Aguirre, Alex S, Encalada, Sebastian, Villamarin, Jose, Oña, Sebastian, Tenemaza, Maria Gabriela, Eissa-Garcés, Ahmed, Matcheswalla, Sakina, Ortiz, Juan Fernando

“…Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is a mitochondrial disease that lacks a definitive treatment. Lately,…”
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Understanding Protein Protocadherin-19 (PCDH19) Syndrome: A Literature Review of the Pathophysiology by Moncayo, Juan A, Ayala, Ivan N, Argudo, Jennifer M, Aguirre, Alex S, Parwani, Jashank, Pachano, Ana, Ojeda, Diego, Cordova, Steven, Mora, Maria Gracia, Tapia, Christiany M, Ortiz, Juan Fernando

“…PCDH19 syndrome is a monogenic epilepsy related to the protein protocadherin-19 (PCDH19) gene, which encodes for a protein important for brain development. The…”
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A partnership to develop disaster simulations for nursing students in response to climate change: description of a programme in Bluefields, Nicaragua, and Virginia, USA by Mitchell, Emma McKim, Ackard, Ryne, McLean Estrada, Michelet David, Hodgson, Diana, Thompson-Heisterman, Anita, Bonilla, Alex S Aguirre, Foronda, Cynthia

“…A common practice in global nursing education is short-term missions where US-based students spend a brief time in a host country with hands-on experiences…”
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Guide for the treatment of acute altered mental status. Iberoamerican Academy of Pediatric Neurology by López, D, Espinel, F, Andrade, E, Aguirre, A S

“…In pediatric patients, an acute altered mental status refers to a sudden and significant change in a child's brain function and level of consciousness. It may…”
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COVID-19: Medical education from the point of view of medical students using the participatory Delphi method by Ortiz Riofrio, Andrea Gabriela, Valdivieso-Andrade, Emilia José, Acosta Masaquiza, Nathaly Monserrath, Aguirre, Alex S, Almeida Villavicencio, Nicolás Alexander, Calderón Pilla, Cynthia Samantha, Del Pozo Acosta, Prisca, Guaillas Japón, Auki, Luna Chonata, Darwin Vicente, Mafla Roca, Navila Bianca, Mendoza García, Alissa Solange, Muñoz Caicedo, Lenin Andrés, Muñoz Salazar, Gustavo Alexander, Pacheco Reinoso, Kimberly Mishell, Pazmiño Chávez, Camila Nicole, Proaño Lozada, Nuria Karina, Rzonzew Sauer, Jonathan, Saldaña Armas, Gianny Alexander, Salinas Avalo, Ivonne Estefania, Saltos Granizo, Ana Cristina, Soria Sarabia, Bonny Francisca, Suárez Morales, Doménica Alejandra, Sulca Caillagua, Rodrigo Felipe, Zavala Cárdenas, María Antonia, Carrera Verdesoto, Flavio, Cisneros-Heredia, Diego, Estrella Porter, Pablo, Guillemot, Jonathan Raymond

“…The COVID-19 pandemic has prompted a transformation of medical training. Although there were obvious medical education and social interaction challenges,…”
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