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Placas queratósicas palmoplantares en un paciente anciano con síndrome confusional. Diagnóstico y comentario
(Elsevier BV, 2025-12)
Consuelo Verónica Mosquera Hidalgo
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Isabel Ayala Guilcapi
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María de los Ángeles Manteca Oñate
El test de Müller mostró la presencia de Sarcoptes scabiei. En el estudio microscópico, se observó piel con estrato córneo grueso, con organismos morfológicamente compatibles con numerosos ácaros intracorneales y huevos, acompañado de un infiltrado linfocítico y eosinofílico perivascular superficial, con histiocitos y neutrófilos, espongiosis e hiperplasia epidérmica en dientes de sierra, con características de excoriación y costra.
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The genomic bases of atrial fibrillation in an Ecuadorian patient: a case report
(Frontiers Media SA, 2025-06-23)
TAMAYO TRUJILLO, VICTOR RAFAEL
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GUEVARA RAMIREZ, ALEXANDRA PATRICIA
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Leonel Meza Chico
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CADENA ULLAURI, SANTIAGO ANDRE
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RUIZ POZO, VIVIANA ALEJANDRA
Atrial fibrillation (AF) is one of the most globally prevalent arrhythmias with multifactorial factors, including environmental and genetic predisposition influences. The present case report describes a 30-year-old Ecuadorian mestizo male diagnosed with persistent AF with an history of hyperthyroidism, later progressing to hypothyroidism post-radioactive iodine therapy. Genomic test identified variants of uncertain significance in the TTN, MYH11, and RAF1 genes, which are associated with cardiovascular diseases but not directly linked to AF. The interplay between thyrotoxicosis and genetic predispositions is discussed as a potential mechanism underlying AF development. This report emphasizes the need for genomic screening and personalized strategies in populations like Ecuador with complex genetic and environmental backgrounds. 2025 Tamayo-Trujillo, Guevara-Ramirez, Meza-Chico, Cadena-Ullauri, Ruiz-Pozo, Paz-Cruz, Laso-Bayas, Ibarra-Castillo and Zambrano.
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Next-Generation sequencing in a Native American patient with sea-blue histiocytosis: A case report and genomic analysis
(Medwave Estudios Limitada, 2025-08-08)
ZAMBRANO ESPINOSA, ANA KARINA
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RUIZ POZO, VIVIANA ALEJANDRA
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Paz Cruz Elius Andrés
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Mateo Antonio Rodríguez
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CADENA ULLAURI, SANTIAGO ANDRE
This study presents a case of a 25-year-old Native American woman from Otavalo, Ecuador, diagnosed with sea-blue histiocytosis and myelodysplastic syndrome. Bone marrow aspiration revealed sea-blue histiocytes, and next-generation sequencing identified a likely pathogenic stop-gain mutation in the gene, associated with myelodysplastic syndrome. Additionally, variants of uncertain significance were found in the and genes. Ancestral analysis showed a predominantly Native American composition, suggesting a potential genetic predisposition specific to Andean communities. The report underscores the importance of understanding genetic and ancestral backgrounds in diagnosing and managing hematological disorders.
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Cryoagglutinin autoimmune hemolytic anemia secondary to Mycoplasma pneumoniae infection in patient with pernicious anemia: A case report
(Medwave Estudios Limitada, 2025-09-17)
Leslie Gricel Cuzco Macias
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Ashley Carolina Cuzco Macias
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Daniel Simancas-Racines
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PARISE VASCO, JUAN MARCOS
This report describes the rare case of a patient with autoimmune hemolytic anemia due to cryoagglutinins secondary to Mycoplasma pneumoniae infection, coexisting with pernicious anemia. A 56-year-old man presented with a ten-day history of cough and mucocutaneous pallor. Laboratory studies revealed megaloblastic anemia with low vitamin B12 levels, positive antibodies against intrinsic factor and parietal cells, as well as hemolysis parameters and a positive direct Coombs test for complement (C3d) with cryoagglutinins active at low temperatures. M. pneumoniae infection was confirmed by indirect immunofluorescence for IgM and IgG. Intramuscular B complex supplementation and doxycycline were administered for 14 days, improving hemoglobin and other hematological parameters within four weeks. This case highlights the diagnostic complexity in patients with rare hemolytic anemias in the context of atypical infections and underscores the importance of a multidisciplinary approach for their diagnosis and appropriate treatment. The coexistence of cryoagglutinin-mediated autoimmune hemolytic anemia and pernicious anemia poses diagnostic and therapeutic challenges that are relevant to clinical practice.
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Identification of a novel NKX2-5 variant in a young Ecuadorian patient with atrioventricular block and bradycardia: a case report
(Frontiers Media SA, 2025-04-03)
Ruiz Pozo Viviana A.
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CADENA ULLAURI, SANTIAGO ANDRE
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PAZ CRUZ, ELIUS ANDRES
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Rafael Tamayo-Trujillo
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GUEVARA RAMIREZ, ALEXANDRA PATRICIA
Cardiovascular diseases (CVDs) are the leading global cause of mortality, with South America reflecting similar trends. Among congenital heart diseases (CHDs), atrioventricular (AV) block is included. AV block is a condition defined by abnormal electrical signal transmission between the atria and ventricles. Advances in Next-Generation Sequencing (NGS) have facilitated the identification of genetic variants associated with cardiac disorders, such as AV block. Notably, the transcription factor NKX2-5 plays a crucial role in heart development and function, and mutations in this gene have been linked to bradycardia and AV block. This article describes the case report of a young Ecuadorian child diagnosed with AV block and bradycardia. Furthermore, by performing NGS, a missense variant, p.(Tyr274Ser) substitution, in the NKX2-5 gene has been identified and classified as a variant of uncertain significance (VUS). Ancestral analysis has shown a genetic background of 16.5% African, 45.9% European, and 37.6% Native American. These findings suggest a potential association between the identified NKX2-5 variant and the patient's phenotype, highlighting the importance of integrating genomic and ancestral analyses to advance personalized diagnostics and therapeutics in diverse populations, such as the mestizo population. 2025 Ruiz-Pozo, Cadena-Ullauri, Paz-Cruz, Tamayo-Trujillo, Guevara-Ramirez, Onofre-Ruiz and Zambrano.

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