Expanding diversity within phenylketonuria in ecuadorian patients: genetic analysis and literature review of newborn screenings.

Phenylketonuria (PKU) is an autosomal recessive metabolic disorder caused by a deficiency in the phenylalanine hydroxylase (PAH) enzyme, leading to the accumulation of phenylalanine and its metabolites, which are toxic to the central nervous system. Without treatment, PKU can result in severe intellectual disability and neurological issues. This study aims to present the first cohort of clinically described Ecuadorian PKU patients, analyzing genotype-phenotype correlations and comparing these variants with global databases to improve diagnosis and treatment in Ecuador.

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.

Miyoshi Muscular Dystrophy Type 1 is a rare autosomal recessive myopathy caused by mutations in the gene. This disease presents with progressive distal lower limb weakness, such as gastrocnemius and soleus muscles resulting in difficulty standing on tiptoes, walking, and climbing stairs. We describe a family consisting of 6 siblings, 2 affected males, 1 affected female, 1 affected-death female, and 2 unaffected females.

Enhancing Protocols for Concussion Management in Professional Soccer Events.

Aim: Every year, there are an estimated 1.7 to 3.8 million sports-related traumatic brain injuries.

Navigating phenylketonuria management to improve it in Latin America: a systematic literature review and applicability analysis.

Introduction: Phenylketonuria (PKU) is an autosomal recessive metabolic disorder resulting from phenylalanine hydroxylase deficiency, which impacts neurodevelopment. Lifelong low-phenylalanine diets and multidisciplinary care are pivotal for managing PKU. Latin American challenges in PKU care include diverse newborn screening programs, limited specialized healthcare, and resource scarcity.

COVID-19: Medical education from the point of view of medical students using the participatory Delphi method.

Background: The COVID-19 pandemic has prompted a transformation of medical training. Although there were obvious medical education and social interaction challenges, e-learning presented some advantages, which may have generated medical curricula innovation and adjustments to novel technological methodologies. This study aims to generate consensuses among medical students regarding medical education provided during the pandemic in the resource-limited context of a Global South university.

Isolation, characterization, and immunomodulatory activity evaluation of probiotic strains from colostrum and canine milk.

Background: This study aimed to characterize potential probiotic strains for use in dogs to prevent infectious enteropathies. Lactic acid bacteria (LAB) isolated from canine milk and colostrum were characterized according to their functional properties, including their resistance to gastrointestinal conditions, inhibitory effect against pathogens, and intestinal adhesion.

Methods: The immunomodulatory effects of the strains were also analyzed in and studies.

Acute meningitis followed by associated Guillain-Barré Syndrome in a pediatric patient with COVID-19: a case report.

The association of GBS and meningitis in a pediatric population is infrequent. Given the limited number of reported cases from pediatric patients and considering that treatment guidelines are predominantly based on data gathered from adult patients; this is an opportunity to pay attention to different perspectives. We present a case of a pediatric patient with a positive SARS-CoV2 test and acute meningitis followed by Campylobacter jejuni associated Guillain-Barré Syndrome.

Atypical presentation of dysembryoplastic neuroepithelial tumor in an adult without epilepsy: a case report.

Dysembryoplastic neuroepithelial tumor (DNET) is a rare glioneuronal tumor usually found in the temporal lobe of children and young adults. DNETs are commonly associated with drug-resistant partial seizures, with most cases diagnosed before age 20. Asymptomatic brain tumors are rare in the general healthy population, and the frequency of incidental DNETs in adults remains unknown.

Pediatric traumatic brain injuries in war zones: a systematic literature review.

Background: Pediatric casualties in war zones are a devastating consequence of armed conflicts, causing significant challenges for affected children, especially in the context of poor access to care. This study aimed to understand traumatic brain injuries (TBIs) in this high-risk population and to identify and provide information for the stakeholders, as well as to recognize severe long-term consequences and develop strategies to prevent them, thus minimizing their burden while aiding in the management of these cases.

Methods: We carried out a systematic literature review following PRISMA guidelines to identify publications discussing traumatic brain injuries in children in the context of war zones, and we analyzed all the collected data.

Treatment of Facioscapulohumeral Muscular Dystrophy (FSHD): A Systematic Review.

Facioscapulohumeral muscular dystrophy (FSHD) is the third most common type of muscular dystrophy. This disease presents as a slowly progressive asymmetric muscle weakness that involves the facial, scapular, and upper arm muscles mainly. Currently, there is no established consensus on this disease treatment in terms of medications.

Efficacy of Rituximab in CANOMAD: A Systematic Review.

CANOMAD, characterized by chronic ataxic neuropathy, ophthalmoplegia, immunoglobulin M (IgM) paraprotein, cold agglutinins, and disialosyl antibodies, encompasses a clinical, radiological, and laboratory diagnosis. CANOMAD is a rare condition, with fewer than 100 cases reported in the literature. The understanding and diagnosis of the disease have improved in the last few years, but the treatment of CANOMAD is mainly unknown, and there is not a clear consensus about it.

Relevance of Fluorodopa PET Scan in Dopamine Responsive Dystonia and Juvenile Parkinsonism: A Systematic Review.

Background: Dopamine Responsive Dystonia (DRD) and Juvenile Parkinsonism (JP) are two diseases commonly presenting with parkinsonian symptoms in young patients. Current clinical guidelines offer a diagnostic approach based on molecular analysis. However, developing countries have limitations in terms of accessibility to these tests.

Use of Riluzole for the Treatment of Hereditary Ataxias: A Systematic Review.

Ataxia is a constellation of symptoms that involves a lack of coordination, imbalance, and difficulty walking. Hereditary ataxia occurs when a person is born with defective genes, and this degenerative disorder may progress for several years. There is no effective cure for ataxia, so we need to search for new treatments.

Understanding Protein Protocadherin-19 (PCDH19) Syndrome: A Literature Review of the Pathophysiology.

PCDH19 syndrome is a monogenic epilepsy related to the protein protocadherin-19 (PCDH19) gene, which encodes for a protein important for brain development. The protein also seems to regulate gamma-aminobutyric acid type A receptors (GABA(A)(R)). The disease presents with refractory epilepsy that is characterized by seizures occurring in clusters.

Reversible Cerebral Vasoconstriction Syndrome in the Postpartum Period: A Systematic Review and Meta-Analysis.

(1) Background: Reversible cerebral vasoconstriction syndrome (RCVS) encompasses a clinical and radiological diagnosis characterized by recurrent thunderclap headache, with or without focal deficits due to multifocal arterial vasoconstriction and dilation. RCVS can be correlated to pregnancy and exposure to certain drugs. Currently, the data on prevalence of RCVS in the postpartum period is lacking.

Neuroimaging in the Rare Sleep Disorder of Kleine-Levin Syndrome: A Systematic Review.

Kleine-Levin syndrome (KLS) is characterized by episodes of hypersomnia. Additionally, these patients can present with hyperphagia, hypersexuality, abnormal behavior, and cognitive dysfunction. Functional neuroimaging studies such as fMRI-BOLD, Positron Emission Tomography (PET) or SPECT help us understand the neuropathological bases of different disorders.

Use of Levodopa After a Stroke: A Systematic Review.

Stroke is a leading cause of death and disability, especially in certain ethnic groups. Impaired consciousness is a common outcome in stroke patients, serving as a predictor of prognosis and mortality. Lately, there has been increased interest in drugs such as Levodopa (LD), which have been found to promote wakefulness.

Seasonal and geographic variation in insecticide resistance in Aedes aegypti in southern Ecuador.

Insecticide resistance (IR) can undermine efforts to control vectors of public health importance. Aedes aegypti is the main vector of resurging diseases in the Americas such as yellow fever and dengue, and recently emerging chikungunya and Zika fever, which have caused unprecedented epidemics in the region. Vector control remains the primary intervention to prevent outbreaks of Aedes-transmitted diseases.