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    Cocaine-induced oronasal communication of the midline of the palate: A case report
    (Medwave Estudios Limitada, 2025-02-24)
    María Jesús Vergara
    ;
    Javiera Cordero Escalona
    ;
    Valentina Veloso Casado
    Cocaine abuse poses a significant public health challenge, leading to severe systemic and localized complications. Intranasal cocaine use can result in chronic rhinitis, septal perforation, and palatal perforation due to its vasoconstrictive effects, which cause ischemia and tissue necrosis. We present the case of a 44- year-old woman with a 10-month history of palatal perforation, attributed to 12 years of chronic cocaine use, presented with nasal regurgitation, feeding difficulties, and cachexia. Examination revealed a 3 x 2 cm palatal perforation, nasal asymmetry, and a saddle nose deformity. Computerized tomography scans showed extensive nasal septum perforation and sinus mucosal thickening. Initial treatment involved antibiotics for sinusitis, followed by the fabrication of an obturator prosthesis to improve speech and feeding. The chronicity and extent of the palatal and nasal damage illustrates the severe consequences that can arise from sustained abuse. This case highlights not only the physical manifestations but also the challenges in managing such cases, emphasizing the necessity of a multidisciplinary approach. The integration of dental, otolaryngological, and psychological care is crucial for both immediate and long-term management. The main lesson from this case is the importance of comprehensive, patient-centered care that prioritizes stabilization and quality of life while supporting the patient’s path to rehabilitation. Provisional treatment with an obturator prosthesis can provide significant improvement in speech and feeding, providing a viable solution until the patient can maintain abstinence. Conservative management and prosthetic rehabilitation remain effective options, reinforcing the need for individualized, multidisciplinary care strategies.
      1
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    Use of an Advanced Hybrid Closed Loop System During Marathon Running: Case Examples and Clinical Implications
    (Wiley, 2025-02-28)
    María T. Onetto
    ;
    Denise Montt‐Blanchard
    ;
    Cari Berget
    ;
    Kristel Strodhoff
    ;
    Bruno Grassi
    Maintaining glucose levels in the target range during aerobic training and athletic competition is especially difficult. The use of Automated Insulin Delivery (AID) technology is increasing, but exercise continues to be a challenge for persons with type 1 diabetes (T1D). In this case report series, we present 3 cases (C1, C2 and C3) of persons with T1D who used the MiniMed 780G during marathon races. We describe the strategies they used before, during and after the race to manage their glycaemia as well as the results of these strategies on their glycaemic control during the race.</jats:p></jats:sec><jats:sec><jats:title>Methods</jats:title><jats:p>The Medtronic CareLink platform was employed to remotely access insulin pump settings and glycaemic outcomes. Race parameters were obtained from sport watches. Supplemental data were obtained through interviews.</jats:p></jats:sec><jats:sec><jats:title>Results</jats:title><jats:p>Carelink data for Cases 1, 2, and 3 before the race were downloaded: Time in range (TIR) 70–180 mg/dL 89%, 76%, 82%; time above range (TAR) &gt; 180 mg/dL, 9%, 20%, 16%; time below range (TBR) &lt; 70 mg/dL, 1%, 4%, 1%, respectively. The breakfast insulin reduction percentages were −25%, 0%, and 0% for C1, C2, and C3, respectively. In all three cases, insulin dose reduction was applied to the pre‐race snack at percentages of −50%, −100% and −83%. The consumption of carbohydrates during the race was 0.39 g/kg/hour, 0.42 g/kg/hour, and 0.5 g/kg/hour, respectively. The total amount of carbohydrates consumed was 101 g, 120 g, and 115 g, respectively. Throughout the race, a temporary target was used for all cases.</jats:p></jats:sec><jats:sec><jats:title>Conclusions</jats:title><jats:p>These cases provide insights for healthcare professionals who assist athletes with T1D using AID systems during prolonged physical activities. Highlighting the significance of specialised education, planning, and personalised approaches.</jats:p></jats:sec>
      4
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    A case report of sarcoidosis and ulcerative colitis: overlap or coexistence
    (Sociedad Espanola de Patologia Digestiva (SEPD), 2024)
    Alex Fabián Arenas Aravena
    ;
    Diego Ruedi
    ;
    Matías Sanhueza
    ;
    ;
    Gonzalo Carrasco-Avino
      4
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    A Novel Homozygous 9385 bp Deletion in the FERMT1 (KIND1) Gene in a Malaysian Family with Kindler Epidermolysis bullosa and a Review of Large Deletions
    (MDPI AG, 2025-04-29)
    Alfred Klausegger
    ;
    Fabian Leditzky
    ;
    Susanne Krämer
    ;
    ;
    Kindler Epidermolysis bullosa (KEB; OMIM 173650) is a rare autosomal recessive genodermatosis characterized by bullous poikiloderma and photosensitivity. Additional presentations include blistering, poor wound healing, skin atrophy, and increased risk of skin cancer. Most cases of KEB result from aberrations in the FERMT1 (Fermitin family member 1) gene encoding kindlin-1 and include nonsense, frameshift, splicing, and missense variants. Large deletion variants have been reported in nine cases to date. Most variants are predicted to lead to premature termination of translation and to loss of kindlin-1 function. In this study, we report on a 33-year-old male patient who presented with typical clinical manifestations of KEB. As routine molecular testing failed to obtain a diagnosis, Next Generation Sequencing (NGS) of an Epidermolysis Bullosa (EB)-specific panel was carried out followed by the determination of the deletion breakpoints and verification at the mRNA and protein levels. This approach revealed a new large homozygous deletion of ~9.4 kb in the FERMT1 gene involving exons 7 to 9. Finally, we performed a literature review on large FERMT1 deletions. The deletion is predicted to skip exons 7 to 9 within the mRNA, which results in a frameshift. The patient’s phenotype is likely caused by the resulting truncated and non-functioning protein. Our report further enriches the spectrum of FERMT1 gene variants to improve genotype–phenotype correlations.
      1
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    New Dermoscopy Pattern in Nevus‐Associated Melanomas
    (Wiley, 2025-04-19)
    Nelson Lobos‐Guede
    ;
    Dan Hartmann
    ;
    Valentina Darlic
    ;
    Cristina Carrera
    ;
    Llucia Alos
    Melanomas can appear de novo or in association with a pre‐existing nevus. The association of melanomas with pre‐existing nevi and its role as a melanoma precursor is a controversial issue. Dermoscopy can increase melanoma's diagnostic accuracy and help us suspect nevus‐associated melanomas (NAM). Differentiating NAMs clinically and dermoscopically can be challenging. There are few published studies so far describing dermoscopic features of NAM that have differentiated from <jats:italic>de novo</jats:italic> melanomas, such as multi‐component pattern, multifocal pigmentation, atypical pigment network, regression structures, negative pigment network, irregular globules, and streaks. Here, we report four acquired compound NAMs showing a starburst pattern (SP) within the lesion. No publications have reported NAMs with melanoma components in the form of SP arising within the center of the lesion. Therefore, when faced with a compound or intradermal nevus with incipient central reticulated pigmentation, especially if there is no history of trauma or previous surgery, we must pay alert to the possibility of an early development of melanoma.
      2
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    Digital Bowen disease: a case report and systematic review
    (JLE, 2024-12) ;
    Cristóbal Lecaros
    ;
    Edinson López
    ;
    Nelson Lobos
    ;
    Nadia Vega
      5
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    Torsión lingular espontánea como causa rara de dolor torácico de manejo quirúrgico: Reporte de un caso
    (Sociedad de Cirujanos de Chile, 2024-11-25)
    Nicolás Ignacio Berríos Caro
    ;
    Sabastián Matías Paz Aceituno
    ;
    José Ignacio Ortega Sepúlveda
    <jats:p>Objetivo: Describir un caso extremadamente raro de torsión pulmonar espontánea en una paciente sin antecedentes de trauma o cirugía torácica, y discutir su importancia clínica.Materiales y Métodos: Se analizó el caso de una paciente femenina de 56 años que presentó dolor torácico súbito. Para el diagnóstico, se emplearon métodos como el examen físico, la tomografía computarizada y la videotoracoscopia (VTC).Resultados: La VTC reveló un infarto del segmento lingular inferior por torsión pulmonar, llevando a la realización de una resección segmentaria de la língula sin complicaciones.Discusión: La torsión pulmonar espontánea es rara y generalmente se asocia con condiciones subyacentes como neumotórax, atelectasias, infecciones, derrame pleural, defectos congénitos o tumores. Este caso es inusual al carecer de dichos antecedentes, aunque se detectó una infección viral concomitante. Dada la gravedad de las potenciales complicaciones mortales, resulta crucial un diagnóstico y tratamiento oportunos.Conclusión: Se presenta un caso inusual de torsión pulmonar espontánea. A pesar de su rareza, es vital considerarlo en el diagnóstico diferencial de dolor torácico agudo.</jats:p>
      10
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    Histiocitosis de Erdheim Chester como desafío diagnóstico ante un cuadro sistémico: Reporte de un caso
    (2024)
    Dominga García
    ;
    Yorman Flores
    ;
    Maximiliano Vergara
    ;
    Cristian Labarca Solar
    Scopus© Citations 1
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    Laparoscopic cervico-isthmic cerclage: A “Needle-free” approach for managing cervical insufficiency in pregnant and non-pregnant patients
    (2024)
    Ignacio Miranda-Mendoza
    ;
    Rocío Durán-Cuiza
    ;
    Paz Navarrete-Rey
    ;
    Alvaro Carrasco
    ;
    Bernardita Walker
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    Secondary rectal linitis plastica caused by prostatic adenocarcinoma - magnetic resonance imaging findings and dissemination pathways: A case report
    <jats:p>BACKGROUND</jats:p> <jats:p>Secondary rectal linitis plastica (RLP) from prostatic adenocarcinoma is a rare and poorly understood form of metastatic spread, characterized by a desmoplastic response and concentric rectal wall infiltration with mucosal preservation. This complicates endoscopic diagnosis and can mimic gastrointestinal malignancies. This case series underscores the critical role of magnetic resonance imaging (MRI) in identifying the distinct imaging features of RLP and highlights the importance of considering this condition in the differential diagnosis of patients with a history of prostate cancer.</jats:p> <jats:p>CASE SUMMARY</jats:p> <jats:p>Three patients with secondary RLP due to prostatic adenocarcinoma presented with varied clinical features. The first patient, a 76-year-old man with advanced prostate cancer, had rectal pain and incontinence. MRI showed diffuse prostatic invasion and significant rectal wall thickening with a characteristic "target sign" pattern. The second, a 57-year-old asymptomatic man with elevated prostate-specific antigen levels and a history of prostate cancer exhibited rectoprostatic angle involvement and rectal wall thickening on MRI, with positron emission tomography/computed tomography PSMA confirming the prostatic origin of the metastatic spread. The third patient, an 80-year-old post-radical prostatectomy, presented with refractory constipation. MRI revealed a neoplastic mass infiltrating the rectal wall. In all cases, MRI consistently showed stratified thickening, concentric signal changes, restricted diffusion, and contrast enhancement, which were essential for diagnosing secondary RLP. Biopsies confirmed the prostatic origin of the neoplastic involvement in the rectum.</jats:p> <jats:p>CONCLUSION</jats:p> <jats:p>Recognizing MRI findings of secondary RLP is essential for accurate diagnosis and management in prostate cancer patients.</jats:p>
      1