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Abstract Phenylketonuria (PKU) is an autosomal recessive defect affecting the metabolic pathway of phenylalanine (Phe), causing hyperphenylalaninemia and neurotoxicity. Diagnosis must occur in the neonatal period and treatment should begin as early as possible. Evidence implies that treatment adherence declines as age advances. The aim was to describe the diet of a subgroup of Chilean adults with PKU currently in follow-up. Fifty-three subjects (49% women) followed up between January 2021 to April 2023 were considered. The concentration of Phe (PheC) in dried blood spots measured by fluorometry and 24-hour dietary recalls were analyzed. The median PheC of the sample was 438µmol/L (interquartile range(IQR):351-585µmol/L). A protein intake of 1.35±0.3 gr/Kg/d was observed of which 87% came from the protein substitute without Phe. Participants had a median Phe intake of 459mg/d (IQR:327-976) and 13.1g/d of fiber intake. Most participants, 51% and 92% reported consuming fruits and vegetables, respectively, and 32% consumed Low-Protein foods. Regarding micronutrients, all participants exceeded 90% adequacy according to recommendations. For vitamin-D and vitamin-B12, 100% is provided by the protein substitute. According to our results, it is mandatory to establish transition programs toward adulthood, to constantly maintain good metabolic control, and to adapt diet therapy to their new lifestyle.

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Introducción: El seno frontal es una estructura compleja y desafiante en términos quirúrgicos, siendo descritas numerosas técnicas para su abordaje. Dentro de ellas se destaca el abordaje endoscópico extendido de seno frontal: Draf IIB y Draf III, como una importante alternativa para resolución de patología refractaria de seno frontal. Objetivo: Describir las características de pacientes sometidos a abordaje endoscópico extendido de seno frontal en Hospital Clínico Universidad de Chile (HCUCH). Material y Método: Estudio retrospectivo, descriptivo. Se incluyeron a pacientes sometidos a abordaje endoscópico extendido de seno frontal entre los años 2013 y 2021. Se analizaron variables clínicas, intraoperatorias y de seguimiento. Resultados: Se registraron 118 pacientes, de los cuales 64 cumplieron criterios de inclusión al estudio, con una edad promedio de 48 años. La patología más frecuente fue la rinosinusitis crónica poliposa (42%) seguido del mucocele (20%). Del total de pacientes, el 68% fue sometido a cirugía Draf IIB y el resto a Draf III. Todos los pacientes fueron estudiados con endoscopía e imágenes, y seguidos con parámetros clínicos y endoscópicos. El porcentaje de estenosis postoperatoria se estimó en 10%. Conclusión: El abordaje endoscópico nasal extendido figura como una alternativa útil para manejo de patología de seno frontal refractario a tratamiento. En nuestra experiencia las indicaciones, tipos de cirugía y tasa de complicaciones son concordantes con la literatura internacional.

Introduction: The frontal sinus is a complex and challenging structure in surgical terms, numerous techniques have been described for its approach, among them the extended endoscopic approach: Draf IIB and Draf III, figures as an important alternative for the resolution of refractory pathology of frontal sinus. Aim: To describe the characteristics of patients who underwent an extended endoscopic approach to the frontal sinus at the Hospital Clínico Universidad de Chile (HCUCH). Material and Method: A retrospective, descriptive study included patients who underwent an extended endoscopic approach to the frontal sinus between 2013 and 2021. Clinical, intraoperative, and follow-up variables were analyzed. Results: 118 patients were registered, of which 64 met the inclusion criteria for the study, with an average age of 48 years. The most frequent pathology was chronic polypous rhinosinusitis (42%), followed by mucocele (20%). Of the patients, 68% underwent Draf IIB surgery, while the rest received a Draf III type procedure. All patients were studied with endoscopy and images and followed up with clinical and endoscopic parameters. The percentage of post operatory stenosis was 10%. Conclusion: The extended nasal endoscopic approach appears as a valuable alternative for managing frontal sinus pathology refractory to treatment. In our experience, the indications, types of surgery, and rate of complications are consistent with the international literature.

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Epstein-Barr virus [EBV] is a virus that infects almost all humans worldwide. After the acute phase of the infection, it stays in a latent form in B lymphocytes. EBV reactivation tends to occur in immunosuppressed patients. EBV reactivation may involve the gastrointestinal tract ; it has been associated mainly with colitis, but hemorrhagic enteritis has been poorly reported. Treatment usually includes antivirals. However, our patient did not respond to conventional treatment, so interferon alpha-2a was given as a salvage treatment. To our knowledge, this is the first reported case of hemorrhagic enteritis associated to EBV reactivation treated successfully with interferon alpha-2a.

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Abstract It has been shown that there is a decrease in the concentrations of 25 hydroxyvitamin D (25-OHD) and bone mineral density (BMD) in patients with phenylketonuria (PKU) in their follow-up. Our objective was to determine concentrations of 25-OHD in subjects with PKU and hyperphenylalaninemia (HPA). Transversal analytical study considered three groups: G1-PKU with neonatal diagnosis and formula intake without Phe; G2-HPA, without specific treatment and G3-C control group. Sixteen patients per group (aged 6-23) were included. Levels of 25-OHD, lumbar spine (L2-L4), femur and total BMD, intact parathormone (PTH) and vitamin D (VitD) and calcium intake were calculated. The Kruskal-Wallis statistical test was applied (p-value<0,05). Significant differences were detected in concentrations of 25-OHD between G1-PKU and G2-HPA (38.9 ng/mL; 28 ng/mL, respectively) (NV: >30 ng/mL). G1-PKU had a higher intake of VitD, with differences among groups. There were no significant differences among groups in relation to BMD and intact PTH. In conclusion, G1-PKU under treatment and with good adherence, does not present VitD deficiency and no BMD alterations are observed. In contrast, G2-HPA had a lower intake of VitD and decreased 25-OHD concentrations which could affect the bone architecture in the long term. Further studies on the G2-HPA are suggested.

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Resumen La otalgia es un motivo de consulta frecuente en otorrinolaringología que se puede clasificar en dos tipos: primaria y secundaria. La otalgia primaria es una consecuencia de una enfermedad otológica mientras que la secundaria o referida, surge de procesos patológicos que se originan en estructuras distintas del oído, pero que comparten vías neuronales comunes. Estas vías la componen los nervios craneales V, VII, IX y X y los nervios cervicales C2 y C3. Las causas más comunes de otalgia secundaria son la patología musculoesquelética como la disfunción de la articulación temporomandibular y el síndrome miofascial, la patología dental y las infecciones orofaríngeas. Para encontrar la etiología de la otalgia secundaria, en la mayoría de los casos, una historia clínica y examen físico acucioso resultarán suficientes, sin embargo, existe un grupo de pacientes con factores de riesgo que pudiesen requerir estudios adicionales. El objetivo de esta revisión es otorgar herramientas al lector para comprender los distintos procesos involucrados en la otalgia secundaria, conocer las patologías más relevantes relacionadas y de esta forma entregar al clínico una pauta para enfrentar este motivo de consulta.

Abstract Otalgia is a common reason for consultation in otolaryngology and can be classified into two types: primary or secondary otalgia. Primary otalgia is a consequence of an otological disease while secondary otalgia arises from pathological processes that originate in other structures different than the ears, but share common neuronal pathways. These pathways involve cranial nerves V, VII, IX and X and cervical nerves C2 and C3. The most common causes of secondary otalgia are musculoskeletal pathology such as temporomandibular joint dysfunction and myofascial syndrome, dental pathology and oropharyngeal infections. To find the etiology of secondary otalgia, in most cases a medical history and physical examination will be sufficient, however there is a group of patients with risk factors that may require additional studies. The objective of this review is to give the reader tools to understand the different processes involved in secondary otalgia, know the most relevant related pathologies and thus give the clinician a guide to deal with this problem.