Consenso mexicano de tirosinemia tipo 1

INTRODUCTION: Tyrosinemia type 1 is a rare disease with autosomal recessive inheritance, featuring various clinical manifestations. These may encompass acute neonatal liver failure, neonatal cholestatic syndrome, chronic hepatitis, cirrhosis, hepatocellular carcinoma, and, alternatively, kidney disorders like renal tubular acidosis, Fanconi syndrome, hypophosphatemic rickets, among other alterations. Diagnosis relies on detecting toxic metabolites in the blood and urine, ideally confirmed through molecular testing. METHOD: A consensus was reached with experts in the field of inborn errors of metabolism (EIM), including eight pediatric gastroenterologists, two EIM specialists, two geneticists, three pediatric nutritionists specialized in EIM, and a pediatric surgeon specializing in transplants. Six working groups were tasked with formulating statements and justifications, and 32 statements were anonymously voted on using the Likert scale and the Delphi method. The first virtual vote achieved an 80% consensus, with the remaining 20% determined in person. RESULTS: The statements were categorized into epidemiology, clinical presentation, diagnosis, nutritional and medical treatment, and genetic counseling. CONCLUSIONS: This consensus serves as a valuable tool for primary care physicians, pediatricians, and pediatric gastroenterologists, aiding in the prompt diagnosis and treatment of this disease. Its impact on the morbidity and mortality of patients with tyrosinemia type 1 is substantial.

INTRODUCCIÓN: La tirosinemia tipo 1 es una enfermedad rara, con herencia autosómica recesiva, con múltiples manifestaciones clínicas, que pueden comprender desde falla hepática aguda neonatal, síndrome colestásico neonatal, hepatitis crónica, cirrosis o hepatocarcinoma, hasta alteraciones renales como acidosis tubular renal, síndrome de Fanconi o raquitismo hipofosfatémico, entre otras. El diagnóstico se basa en la presencia de metabolitos tóxicos en la sangre y la orina, idealmente con la confirmación molecular de la enfermedad. MÉTODO: Se realizó un consenso con expertos en el área de los errores innatos del metabolismo (EIM): ocho gastroenterólogos pediatras, dos médicos especialistas en EIM, dos genetistas, tres nutriólogas pediatras especializadas en EIM y un cirujano pediatra especialista en trasplantes. Se formaron seis mesas de trabajo encargadas de desarrollar los enunciados con sus justificaciones y fueron votados anónimamente 32 enunciados en una escala Likert con un método Delphi. La primera votación fue virtual, obteniendo consenso del 80% de los enunciados, y la segunda fue presencial, obteniendo el 20% restante. RESULTADOS: Los enunciados fueron divididos en epidemiología, cuadro clínico, diagnóstico, tratamiento nutricional y médico, y consejo genético. CONCLUSIONES: Este consenso constituye una valiosa herramienta para los médicos de atención primaria, pediatras y gastroenterólogos pediátricos, ya que ayuda a diagnosticar y tratar rápidamente esta enfermedad. Su impacto en la morbilidad y mortalidad de los pacientes con tirosinemia tipo 1 es sustancial.

Primary central nervous system lymphoma: A mirror type presentation in an immunocompetent patient.

Background: Primary central nervous system (CNS) lymphoma is a very rare extranodal non-Hodgkin lymphoma. The bilateral pattern, as we call it "mirror type", has been identified in other CNS lesions such as gliomas, metastases, and demyelinating lesions, so the differential diagnosis includes imaging studies such as magnetic resonance imaging contrasted with spectroscopy, ruling out immunodeficiency or metastatic disease. Case Description: A 65-year-old female presented progressing headache, loss of memory and language alterations, as well as sensory alterations. Neuroimaging showed the presence of two equidistant periventricular lesions at the level of both ventricular atria, a spectroscopy study suggestive of malignancy. Serological studies showed no evidence of immunodeficiency or the presence of positive tumor markers; however, a biopsy was performed, which revealed a histopathological result of primary lymphoma of the CNS. Conclusion: In neuro-oncology, primary CNS tumors with multiple lesions are rare, even more, the "mirror type" lesions. Lymphomas are lesions that can present in different ways on imaging and clinical presentation. These tumors that present a vector effect due to their size, perilesional edema, or that lead to loss of neurological function are highly discussed in diagnostic and surgical treatment. Due to their prognosis, action on diagnosis and treatment must be taken as quickly as hospital resources allow.

Aula invertida o clase magistral: innovar o morir / Inverted classroom or master class: innovate or die / Sala de aula invertida ou sala de aula magistral: inovar ou morrer

RESUMEN Las estrategias para comunicar la información han experimentado muchos cambios, los cuales se han evidenciado en la pandemia. La idea es lograr que se pueda conectar con el estudiante y que la información la reciba de manera clara, oportuna y pertinente, de modo que tendrá los saberes previos para lograr integrar la información de la teoría y la práctica, con el fin de enfrentar con éxito la actividad simulada, así como cuando interactúe con el paciente. En ese contexto, el aula invertida es una estrategia didáctica que brinda videos, podcast, entre otros, para que sean revisados con anticipación, de tal forma que cuando el estudiante realice la actividad presencial o virtual se profundice y se hagan precisiones sobre los conceptos más importantes, usando metodologías activas de participación para lograr el siguiente propósito: El aprendizaje invertido busca un cambio en la dinámica del aprendizaje que apunte como eje del mismo al estudiante. El objetivo de la presente contribución docente es compartir las bondades de esta estrategia usada en estudiantes de la carrera de Odontología dentro del marco del curso de Clínica Estomatológica del Adulto I, dictado en 2023 y que pertenece al quinto ciclo de la carrera de Estomatología en la Universidad Peruana Cayetano Heredia.

ABSTRACT Strategies for communicating information have undergone many changes, which have been evidenced in the pandemic. The idea is to be able to connect with the student and that the information is received in a clear, timely and relevant manner, so that he/she will have the prior knowledge to integrate information from theory and practice, in order to successfully face the simulated activity, as well as when interacting with the patient. In this context, the inverted classroom is a didactic strategy that provides videos, podcasts, among others, to be reviewed in advance, so that when the student performs the face-to-face or virtual activity, the most important concepts are deepened and clarified, using active participation methodologies to achieve the following objective: flipped learning seeks a change in the dynamics of learning that points to the student as its axis. The objective of this teaching contribution is to share the benefits of this strategy used with students of the Dentistry degree program within the framework of the Adult Stomatology Clinic I course, taught in 2023 and which belongs to the fifth semester of the Stomatology degree program at the Universidad Peruana Cayetano Heredia.

RESUMO As estratégias de comunicação de informação sofreram muitas alterações, que são evidentes na pandemia. A ideia é conseguir conectar-se com o aluno e que a informação seja recebida de forma clara, oportuna e relevante, para que ele tenha o conhecimento prévio para poder integrar informações da teoria e da prática, a fim de enfrentar com sucesso a atividade simulada, bem como ao interagir com o paciente. Neste contexto, a sala de aula invertida é uma estratégia didática que disponibiliza vídeos, podcasts, entre outros, para serem revistos previamente, de modo a que, quando o aluno realiza a atividade presencial ou virtual, os conceitos mais importantes sejam aprofundados e clarificados, utilizando metodologias de participação ativa para atingir o seguinte objetivo: A aprendizagem investida procura uma mudança na dinâmica da aprendizagem que aponta para o aluno como eixo da mesma. O objetivo desta contribuição didática é partilhar os benefícios desta estratégia utilizada com os alunos da disciplina de Medicina Dentária no âmbito do curso de Clínica de Estomatologia de Adultos I, ministrada em 2023 e que pertence ao quinto semestre da disciplina de Estomatologia da Universidad Peruana Cayetano Heredia.

Horizontal ridge augmentation with guided bone regeneration using particulate xenogenic bone substitutes with or without autogenous block grafts: A randomized controlled trial.

BACKGROUND: To evaluate dimensional bone alterations following horizontal ridge augmentation using guided bone regeneration (GBR) with or without autogenous block graft (ABG) for the rehabilitation of atrophic jaws with dental implants. MATERIALS AND METHODS: Forty-two patients, with 42 severe horizontal bone atrophy sites in the maxilla or mandible were randomly assigned to two groups: ABG or GBR. The ABG group received a combination of ABG with particulate xenograft, covered by a collagen membrane, while the GBR group received particulate xenograft alone, covered by a collagen membrane. After 6-9 months of healing, implants were inserted. All implants were definitively restored 6 months after implant placement. Radiographic examination (cone-beam computed tomograms) was performed immediately after bone grafting procedure (T0), at 6 months (T6), and at 18 months (T18), to evaluate the amount of horizontal bone width (HBW) gain. Patient demographic information, amount of ridge width augmentation, implant survival, complications, and contributing factors were gathered and analyzed. RESULTS: Thirty-nine patients completed the study. Both groups developed enough bone ridge width for implant placement. A total of 65 implants were placed. Implant survival rate was 100% in both groups at T18. Mean increases in HBW amounted to 5.6 ± 1.35 mm in GBR sites and 4.8 ± 0.79 mm in ABG sites at T18. There was no statistically significant difference in HBW gain obtained in the GBR group when compared to the ABG group at 6 months (P = 0.26) or 18 months (P = 0.26). However, the ABG group had a statistically significant higher prevalence of sensory disturbances (P = 0.02) and hematomas (P = 0.002) compared to the GBR group. CONCLUSION: These findings indicated that either GBR with or without ABG is an effective approach in augmenting resorbed horizontal deficient ridges prior to implant placement. However, more complications may be seen with the use of ABG related to the donor sites.

The insulin-like growth factor pathway as a target for cancer therapy.

The insulin-like growth factor (IGF) system is emerging as a promising new target in cancer therapy. Experimental models and epidemiological studies have demonstrated that the IGF system plays a key role in malignant transformation and cancer progression. Different strategies are being pursued to target this pathway. Several monoclonal antibodies and tyrosine kinase inhibitors targeting the IGF-1 receptor are in clinical development. Early clinical trials indicate these drugs have acceptable safety profiles, and there is pharmacodynamic evidence that actual target inhibition is achievable in patients. Emerging efficacy data as single agent and in combination with chemotherapy is encouraging yet too early for firm conclusions. This manuscript reviews the role of the IGF system in human malignancy and its interactions with other signaling pathways, and summarizes the available data of IGF-1R inhibitors currently in clinical trials.

Lateralización y organización espacial en niños estrábicos / Laterality and spacial organization in strabismic children

De toda la información que el hombre recibe del medio valiéndose de los analizadores,el mayor tanto por ciento corresponde a la información visual. Los autores estudian 82 niños estrábicos de 8 a 10 años de edad y lo clasifican en 2 grupos según su predominio lateral ojo-mano: homogénea y cruzada.Estudian en ambos grupos el desarrollo de la orientación espacial y corporal, aplicando los test de Piaget, Head, y gnosias digitales. Reportan diferencias significativas con respecto al reconocimiento digital y a la orientación corporal en grupo con lateralidad cruzada