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Objetive. Human teeth have been commonly used for in vitro and in situ studies. Currently, other animals' teeth have been purposed for dental research to overcome human teeth' problematic availability. This study aimed to investigate the enamel and dentin from human, bovine, and ovine teeth concerning the microhardness, organic, and in organic contents via microRaman spectroscopy. Methods. Human, bovine, and ovine teeth were divided according to their type and age into seven groups: Ovine; Bovine12 months; Bovine24 months; Bovine36 months; Bovine48 months; Bovine+60 months; Human (control). The enamel's microhardness (superficial and deep) and dentin (superficial, middle, and deep) were analyzed. The calcium/phosphate ratio and amide contents were determined by microRaman spectroscopy. Results. Overall, the microhardness of human enamel was superior to the other species. Dentin's microhardness was similar among groups. Ovine group showed lower values of calcium/phosphate ratio than human. Amide content was similar between bovine and human. The microhardness and calcium/phosphate ratio of enamel and dentin, respectively, decreased as the age of bovine teeth increased. Conclusions. Researchers must be aware and take into consideration the differences of ovine and bovine enamel compared to human enamel. Other alternatives that are more similar to the microhardness of human enamel should be sought. Bovine teeth of 12 and 24 months are suitable substitutes for dentin of human teeth. Researchers must also be aware of the age of the animals and specify it in the studies.
Objetivo. Los dientes humanos se han utilizado comúnmente para estudios in vitro e in situ. Actualmente, los dientes de otros animales se han destinado a la investigación dental para superar la disponibilidad problemática de los dientes humanos. Este estudio tuvo como objetivo investigar el esmalte y la dentina de los dientes humanos, bovinos y ovinos en relación con la microdureza y los contenidos orgánicos e inorgánicos a través de la espectroscopia microRaman. Métodos. Los dientes humanos, bovinos y ovinos se dividieron según su tipo y edad en siete grupos: Ovinos; Bovino12 meses; Bovino24 meses; Bovino36 meses; Bovino48 meses; Bovino+60 meses; Humano (control). Se analizó la microdureza del esmalte (superficial y profunda) y de la dentina (superficial, media y profunda). La relación calcio/fosfato y los contenidos de amida se determinaron mediante espectroscopía microRaman. Resultados. En general, la microdureza del esmalte humano fue superior a la de otras especies. La microdureza de la dentina fue similar entre los grupos. El grupo ovino mostró valores más bajos de la relación calcio/fosfato que el humano. El contenido de amida fue similar entre bovinos y humanos. La microdureza y la relación calcio/fosfato del esmalte y la dentina, respectivamente, disminuyeron a medida que aumentaba la edad de los dientes bovinos. Conclusiones. El esmalte de los dientes ovinos y bovinos no es un sustituto adecuado del de los dientes humanos. Se deben buscar otras alternativas que sean similares a la microdureza del esmalte humano. Sin embargo, los dientes bovinos de 12 y 24 meses son sustitutos adecuados de la dentina de los dientes humanos. Los investigadores deben conocer la edad de los animales y especificarla en los estudios.
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Introducción: la osteogénesis imperfecta (OI) es el trastorno óseo hereditario más común con incidencia mundial de 1 en 10.000 a 25.000 nacimientos, causado por mutaciones de los genes que codifican las cadenas del colágeno tipo I. La mayoría presenta patrón de herencia autosómico dominante. Las manifestaciones clínicas varían de asintomáticos con mayor predisposición a fracturas, talla normal y sin incidencia en la expectativa de vida, hasta alta letalidad perinatal con deformidades esqueléticas severas, incapacidad motora y talla muy baja. Objetivos: reportar un paciente con presentación inusual de OI tipo III con fracturas in útero para contribuir en la orientación diagnóstica. Caso clínico: recién nacido con sospecha in útero de OI tipo II, nació a término vía cesárea, Ballard de 37 semanas y bajo peso con fracturas múltiples y defectos de osificación (braquicefalia). A los 4 meses con sobrevida mayor a la esperada, presentaba escleróticas grisáceas, braquicefalia, fontanelas amplias, fragilidad ósea generalizada y deformidades angulares en extremidades; confirmándose la OI tipo III mediante secuenciación exómica. Conclusiones: el diagnóstico de la OI se basa en la clínica y las características típicas. La supervivencia, los hallazgos radiográficos y el resultado de los estudios genéticos moleculares permiten la adecuada clasificación.
Introduction: osteogenesis imperfecta (OI) is the most common hereditary bone disorder with a global incidence of 1 in 10,000 to 25,000 births. OI is caused by mutations in the genes encoding the chains of collagen type I and is mostly inherited in an autosomal dominant manner. Clinical manifestations vary from asymptomatic with increased propensity to fractures, normal stature and no impact on life expectancy, to high perinatal lethality, severe skeletal deformities, motor disability and very short stature. Objectives: to report a case of an unusual presentation of OI type III in an infant who had in utero fractures, as a diagnostic resource. Case: a full-term infant born via cesarean section, with suspected in utero OI type II, Ballard score: 37 weeks, low weight and multiple fractures and ossification defects (brachycephaly). At 4 months, a higher survival than the expected, he presented greyish sclerae, brachycephaly, large fontanels, generalized bone fragility and bowing of extremities; OI type III was confirmed by exome sequencing. Conclusions: OI diagnosis is based on the clinical and typical features of the disorder. Survival, radiographic findings and molecular genetic testing allow an adequate classification.
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HumanosRESUMO
Introducción: El síndrome de Ehlers Danlos tipo III o síndrome de hiperlaxitud articular benigna, consiste en una alteración genética del colágeno tipo III/I con un patrón de herencia autosómico dominante, caracterizado por la presencia de articulaciones con una amplitud de movilidad incrementada y síntomas musculoesqueléticos y extraesqueléticos. Objetivo: Valorar la importancia de la aplicación del método clínico para el diagnóstico del Síndrome de Ehlers Danlos tipo III. Caso clínico: Se presenta el caso de un adolescente masculino de 15 años de edad con diagnóstico clínico reciente del Síndrome de Ehlers Danlos tipo III. Conclusiones: Para lograr un diagnóstico certero del síndrome de Ehlers Danlos tipo III es imprescindible aplicar con ciencia y conciencia el método clínico(AU)
Introduction: Ehlers-Danlos syndrome type III or benign joint hyperlaxity syndrome consists in a genetic alteration of collagen type III/I with a dominant autosomal inheritance pattern, characterized by the presence of joints with increased range of motion, as well as musculoskeletal and extraskeletal symptoms. Objective: To assess the importance of applying the clinical method for the diagnosis of Ehlers-Danlos syndrome type III. Clinical case: The case is presented of a 15-year-old male adolescent with a recent clinical diagnosis of Ehlers-Danlos syndrome type III. Conclusions: In order to achieve an accurate diagnosis of Ehlers-Danlos syndrome type III, it is essential to apply the clinical method scientifically and conscientiously(AU)
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Humanos , Masculino , Adolescente , Síndrome de Ehlers-Danlos/diagnóstico , Síndrome de Ehlers-Danlos/epidemiologiaRESUMO
Introducción: La enfermedad por almacenamiento del glucógeno tipo III (GSDIII, Glycogen storage disease type III) o Enfermedad de Cori Forbes es un trastorno del proceso de glucogenólisis ocasionado por variantes del gen AGL que codifica la enzima desramificante del glucógeno; se encuentra ubicado en el cromosoma 1p21.2 y su alteración genera una degradación incompleta del glucógeno, llevando a una acumulación de dextrina límite en órganos blanco, ocasionando organomegalia y disfunción. Objetivo: Caracterizar molecularmente un paciente lactante mayor con diagnóstico clínico y bioquímico sospechoso de GSDIII. Materiales y Métodos: Paciente lactante mayor masculino con antecedente de displasia broncopulmonar, infección respiratoria aguda, reflujo gastroesofágico, hepatomegalia e intolerancia a la lactosa. Se realizó estudio molecular mediante secuenciación de exoma completo; las variantes reportadas fueron evaluadas por Software de predicción como: Mutation Tas-ter, PROVEAN, UMD-Predictor, POLYPHEN, SIFT, Human Splicing Finder. Finalmente, se realizó una red de interacción génica mediante el programa GeneMania para determinar asociaciones génicas cercanas. Resultados: Se identifi caron 3 variantes heterocigotas ubicadas en el gen AGL: p.Arg910* que ocasiona pérdida del dominio amilo-1,6 glucosidasa y el dominio de unión al glucógeno, y las variantes p.Trp373Cys, p.Asn565Ser que generan cambios missense en la proteína. El análisis de significancia clínica por medio de métodos in-sílico determinó una clasificación patogénica para todas las variantes. La red de interacción permitió observar asociaciones entre el gen AGL y los genes FOXA2, PPP1R3B, NHLRC1 y GCK, que tienen relación con procesos metabólicos. Conclusión: una sospecha clínica inicial, a través de una buena historia clínica y la pertinencia de estudios bioquímicos-metabólicos-genómicos dirigidos, permite brindar un correcto diagnóstico, tratamiento y seguimiento, acercándonos a la medicina de precisión.
Introduction: Glycogen storage disease type III (GSDIII) or Cori Forbes disease is a disorder of the glycogeno-lysis process caused by variants of the AGL gene that encodes the glycogen debranching enzyme; It is located on chromosome 1p21.2 and its alteration generate an incomplete degradation of glycogen, leading to an accumu-lation of borderline dextrin in target organs, causing organomegaly and dysfunction. Objective: To characterize at the molecular level an elderly male lactating patient from southwestern Colombia with a clinical, biochemical diagnosis suspected of GSDIII. Materials and methods: An elderly male infant with a history of bronchopul-monary dysplasia, acute respiratory infection, gastroesophageal refl ux, hepatomegaly, and lactose intolerance. A molecular study was performed by whole exome sequencing; the reported variants were evaluated by prediction software such as Mutation Taster, PROVEAN, UMD-Predictor, POLYPHEN, SIFT, Human Splicing Finder. Fi-nally, a gene interaction network was performed using the GeneMania program to determine close gene associa-tions. Results: 3 heterozygous variants located in the AGL gene were identifi ed: p.Arg910 * that causes loss of the amyl-1,6 glucosidase domain and the glycogen-binding domain, and the variants p.Trp373Cys, p.Asn565 in the protein. The analysis of clinical signifi cance by means of in-silico methods determined a pathogenic classifi cation for all the variants. The interaction network will observe associations between the AGL gene and the FOXA2, PPP1R3B, NHLRC1 and GCK genes, which are related to metabolic processes. Conclusion: an initial clinical suspicion, through a good clinical history and the relevance of directed biochemical-metabolic-genomic studies, allows us to provide a correct diagnosis, treatment, and follow-up, bringing us closer to precision medicine
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Humanos , Masculino , Lactente , Biologia Computacional , Doença de Depósito de Glicogênio Tipo III , ColômbiaRESUMO
RESUMEN El tratamiento de las enfermedades de la aorta torácica con la implantación percutánea de stent se viene realizando desde su aplicación, por primera vez, a principios del siglo XX. Se presenta un paciente de 79 años de edad que fue llevado a urgencias con intenso dolor de espalda posterior a un accidente automovilístico, a quien se le realizó tomografía computarizada y se le diagnosticó una disección aórtica tipo III de DeBakey. Se le implantó un stent endovascular autoexpandible de nitinol (Talent Stent Graft, Medtronic) en la aorta descendente, donde comenzaba el segmento disecado. Este procedimiento es un método eficaz para prevenir la isquemia de órganos y la ruptura vascular en las enfermedades traumáticas de la aorta. Es menos invasivo, tiene menos complicaciones que el tratamiento quirúrgico, y es efectivo para restituir el flujo sanguíneo de forma rápida y segura.
ABSTRACT The applications of thoracic aorta pathologies with a stent graft percutaneously have been performed for the first time since the beginning of the 20th century. Computed tomography was performed on a 79-year-old patient who was brought to the emergency room due to an in-vehicle traffic accident with severe back pain, and DeBakey type III aortic dissection was determined. An endovascular self-expanding nitinol stent (Talent Stent Graft, Medtronic) was implanted in the descending aorta where the dissected segment begins. Stent graft implantation is an effective method in preventing organ ischemia and rupture in traumatic aortic pathologies. This procedure is less invasive and has less complication than surgical approach. It is effective in providing blood flow quickly and safely.
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Diagnóstico por Imagem , Stents Metálicos Autoexpansíveis , Dissecção AórticaRESUMO
Resumen Introducción: La hipertrofia gingival (HG) es el aumento del volumen de la encía asociado a ciertas enfermedades sistémicas, hereditarias (idiopático), ingesta de algunos medicamentos o a factores locales como el tratamiento ortodóntico, capaz de provocar cambios histológicos en el tejido conectivo gingival. Objetivo: Describir las características histológicas e identificar el colágeno tipo I y tipo III en tejidos gingivales de sujetos con hipertrofia gingival portadores de ortodoncia. Materiales y método: Se diseñó un estudio de casos y controles que incluyó el análisis de biopsias de tejido gingival de 12 pacientes sometidos a cirugías periodontales. La muestra se dividió en dos grupos: individuos sanos (control; n= 6) y pacientes con HG portadores de ortodoncia (pacientes; n= 6). Las muestras fueron procesadas e incluidas en parafina. Las tinciones Masson-Goldner y rojo sirius/verde rápido fueron empleadas. El colágeno tipo I y tipo III fueron identificados mediante inmunohistoquímica con anticuerpos monoclonales. Resultado: En los pacientes con HG portadores de ortodoncia se observó un epitelio hiperplásico y tejido conectivo denso con abundantes fibras de colágeno distribuidos aleatoriamente. La inmunodetención de colágeno tipo I indicó la presencia de abundantes fibras desorganizadas y el colágeno tipo III fue inmunolocalizado subyacente a la membrana basal, vasos sanguíneos y toda la extensión del tejido conectivo de los pacientes con HG con tratamiento ortodóntico. Conclusión: La acumulación de fibras de colágeno, particularmente del colágeno tipo I y tipo III, son hallazgos histológicos que caracterizan la HG en pacientes portadores de ortodoncia. Futuros estudios son necesarios para dilucidar el fenotipo de los fibroblastos gingivales y la probable pérdida homeostática entre la producción y degradación de colágeno en esta patología.
Abstract Introduction: Gingival hypertrophy (GH) is the increase in the volume of the gingiva associated with certain systemic, hereditary (idiopathic) diseases, the intake of some medications or local factors such as orthodontic treatment, capable of causing histological changes in the gingival connective tissue. Objective: To describe the histological characteristics and identify type I and type III collagen in gingival tissues of subjects with gingival hypertrophy wearing orthodontics. Method: A case-control study was designed that included the analysis of gingival tissue biopsies from 12 patients submitted to periodontal surgeries. The sample was divided into two groups: healthy individuals (Control; n= 6) and patients with GH wearing orthodontics (Patients; n= 6). The samples were processed and embedded in paraffin. Masson-goldner and sirius red/fast green stains were used. Type I and type III collagen were identified by immunohistochemistry with monoclonal antibodies. Result: A hyperplastic epithelium and dense connective tissue with abundant randomly distributed collagen fibers were observed in patients with orthodontic GH. Immunodetention of type I collagen indicated the presence of abundant disorganized fibers and type III collagen was inmunolocalized underlying the basement membrane, blood vessels and the entire extension of the connective tissue of patients with GH orthodontic. Conclusion: The accumulation of collagen fibers, particularly type I and type III collagen, are histological findings that characterize GH in orthodontic wearers. Future studies are necessary to elucidate the phenotype of gingival fibroblasts and the probable homeostatic loss between collagen production and degradation in this pathology.
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Humanos , Masculino , Feminino , Aparelhos Ortodônticos , Ortodontia , Colágeno Tipo I , Colágeno Tipo III , Gengiva , Hipertrofia GengivalRESUMO
Resumen ANTECEDENTES: El angioedema hereditario es una enfermedad rara, caracterizada por episodios recurrentes de edema en cualquier parte del cuerpo, sobre todo en las extremidades, la cara y las vías respiratorias. Existen tres tipos de enfermedad en función de su causa, el menos frecuente es el III con un nivel y función del inhibidor de C1 normales. Su fisiopatología es poco conocida; por lo tanto, su diagnóstico es difícil. Su tratamiento ha avanzado en los últimos años, aunque queda mucho por definir, sobre todo durante el embarazo. OBJETIVO: Evaluar la bibliografía disponible relacionada con el angioedema hereditario y su atención médica en mujeres embarazadas. CASO CLÍNICO: Paciente de 30 años, en curso de su primer embarazo. El único antecedente personal destacable fue haber padecido angioedema hereditario tipo III, diagnosticado 10 años antes después de varios episodios de angioedema orofacial. A lo largo del embarazo sobrevinieron varias crisis de la enfermedad que requirieron tratamiento de los episodios agudos y de mantenimiento en el tercer trimestre. Por último, ocurrió un parto instrumentado mediante vaccum, por riesgo de pérdida de bienestar fetal con buen desenlace materno y fetal en el posparto inmediato. CONCLUSIONES: El angioedema hereditario tipo III es una enfermedad muy rara y poco conocida en la Ginecoobstetricia que requiere establecer un protocolo y estandarización de la atención clínica, sobre todo en las embarazadas, lo que ayudará a proporcionar una información y asistencia de calidad a estas pacientes.
Abstract BACKGROUND: Hereditary angioedema is a rare disease characterized by recurrent episodes of edema anywhere in the body, especially in the extremities, face and airways. There are three types of the disease depending on its cause, the most infrequent being III with normal C1 inhibitor level and function. Its pathophysiology is poorly understood; therefore, its diagnosis is difficult. Its treatment has advanced in recent years, although much remains to be defined, especially during pregnancy. OBJECTIVE: To evaluate the available literature related to hereditary angioedema and its medical care in pregnant women. CLINICAL CASE: 30-year-old female patient, during her first pregnancy. The only personal history of note was hereditary angioedema type III, diagnosed 10 years earlier after several episodes of orofacial angioedema. Throughout the pregnancy, several crises of the disease occurred, requiring treatment in acute episodes and maintenance treatment in the third trimester. Finally, one delivery was instrumented by vaccum, due to risk of loss of fetal well-being with good maternal and fetal outcome in the immediate postpartum period. CONCLUSIONS: Hereditary angioedema type III is a very rare and little-known disease that requires establishing a protocol and standardization of clinical care, especially in pregnant women, which will help to provide quality information and assistance to these patients.
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RESUMEN Antecedentes: La pitiriasis rubra pilaris es una enfermedad infrecuente pápulo-escamosa crónica en la que existe un trastorno de la queratinización de la epidermis, caracterizada por pápulas foliculares hiperqueratósicas con tendencia a formar placas de coloración asalmonada, descamativas, con islas de piel sana asociadas a queratodermia palmo plantar. Presenta una distribución bimodal en la primera y sexta década de la vida, afectando a ambos sexos por igual. Su etiopatogenia es desconocida, se ha postulado una respuesta inmune anormal ante diferentes estímulos antigénicos, así como alteración del metabolismo de la vitamina A. Se ha clasificado en 6 tipos en base a su presentación, edad de inicio, curso y pronóstico, tratándose en forma tópica o sistémica. Casos clínicos: Se presentan dos casos en pacientes de 10 y 2 años de edad, con manifestaciones clínicas correspondientes al tipo juvenil circunscrito, que es el más frecuente en edad pediátrica y juvenil clásico respectivamente, con histopatología compatible y excelente respuesta al tratamiento tópico. Conclusiones: Aunque la pitiriasis rubra pilaris es una patología rara, deberá ser sospechada si el cuadro clínico es sugestivo, y si es compatible su histopatología. Debe considerarse que el tratamientotópico puede ser suficiente para lograr la resolución del cuadro.
ABSTRACT Background: Pityriasis rubra pilaris is an infrequent chronic papulosquamous disease in which there is a disorder of keratinization of the epidermis, characterized by hyperkeratotic follicular papules with a tendency to form salmon-colored, scaly plaques, with islands of healthy skin associated with palmoplantar keratoderma. It presents a bimodal distribution in the first and sixth decades of life, affecting both sexes equally. Its etiopathogenesis is unknown, an abnormal immune response has been postulated to different antigenic stimuli, as well as alteration of the metabolism of vitamin A. It has been classified into 6 types based on its presentation, age of onset, course and prognosis, being treated appropriately topical or systemic. Clinical cases: Two cases of 10 and 2 years of age are presented, with clinical manifestations corresponding to the circumscribed juvenile type, which is the most frequent in pediatric and classic juvenile age respectively, with compatible histopathology and excellent response to topical treatment. Conclusions: Although pityriasis rubra pilaris is a rare pathology, it should be suspected if the clinical picture is suggestive and its histopathology is compatible. It should be considered that topical treatment may be sufficient to achieve resolution of the condition.
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ABSTRACT Introduction: gingival hypertrophy (GH) is the uncontrolled increase in gingival volume induced by different etiological factors, including orthodontic treatment. This pathology is characterized by changes in epithelial and connective tissue, including modifications in the extracellular matrix. The present study determined the presence and distribution of type III collagen in tissues of patients with GH wearing fixed orthodontic appliances. Methods: 12 samples of gingival tissue were obtained from patients undergoing periodontal surgery. They were divided into two groups, the first with healthy patients (control; n = 6) and the second with patients diagnosed with GH and orthodontic treatment (patients; n = 6). Each obtained sample was subjected to the hematoxylin-eosin stain, Masson-Goldner staining, and type III collagen immunohistochemistry. Results: the hematoxylin-eosin and Masson-Goldner histological stains showed hypertrophia of epithelial tissue and connective tissue with a marked collagen fiber increase in the gingival tissue of orthodontic wearers with GH compared to individuals in the control group. The gingival tissue of patients with GH caused by orthodontic treatment showed a distribution and location of type III collagen near the basal lamina, around the blood vessels, but unlike the control group, its location was noticeable throughout the connective tissue. Conclusion: the gingival tissues of orthodontic wearers with GH experience an increase in the number and density of collagen fibers. Type III collagen seems to lose its usual location in the gingival tissues of orthodontic wearers with GH.
RESUMEN Introducción: la hipertrofia gingival (HG) es el aumento descontrolado del volumen de la encía debido a diversos factores etiológicos, entre ellos el tratamiento ortodóntico. Esta patología se caracteriza por cambios del tejido epitelial y conectivo, incluyendo modificaciones en la matriz extracelular. El presente estudio determinó la presencia y distribución de colágeno tipo III en tejidos de pacientes con HG portadores de ortodoncia fija. Métodos: se obtuvieron 12 muestras de tejido gingival de pacientes sometidos a cirugías periodontales. Se dividieron en dos grupos, el primero, integrado por pacientes sanos (control; n=6), y el segundo por pacientes diagnosticados con HG con ortodoncia (pacientes; n=6). Cada muestra obtenida fue sometida a la coloración hematoxilina-eosina, Masson-Goldner e inmunohistoquímica del colágeno tipo III. Resultados: las tinciones histológicas hematoxilina-eosina y Masson-Goldner permitieron constatar hiperplasia del tejido epitelial y un tejido conectivo denso con notable aumento de las fibras de colágeno en el tejido gingival de los pacientes con HG portadores de ortodoncia en comparación con los individuos del grupo control. El tejido gingival de pacientes con HG por ortodoncia evidenció una distribución y localización del colágeno tipo III cerca de la lámina basal, alrededor de los vasos sanguíneos, pero a diferencia del grupo control, su localización fue notoria en toda la extensión del tejido conectivo. Conclusión: los tejidos gingivales de pacientes con HG portadores de ortodoncia experimentan aumento en número y densidad de las fibras de colágeno. El colágeno tipo III parece perder su localización habitual en los tejidos gingivales de pacientes con HG portadores de ortodoncia.
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Hipertrofia Gengival , Colágeno Tipo IIIRESUMO
Ecallantide is a specific treatment currently indicated for acute crisis of hereditary angioedema (HAE) due to C1-inhibitor deficiency. Our objective is to report the first administration of ecallantide (Kalbitor®) in Peru, where the treatment was used in an HAE patient with normal C1-inhibitor and no F12 gene alteration. We report the case of a 32-year-old postpartum patient with HAE with normal C1-inhibitor who belongs to the Peruvian Association of Patients with Hereditary Angioedema. During pregnancy, she had increased frequency and intensity of abdominal pain and facial edema crisis and received maintenance treatment with tranexamic acid and spasmolytics, with moderate response. One month postpartum, the patient showed respiratory symptoms and tested positive for coronavirus disease (COVID-19) in a polymerase chain reaction (PCR) test, without any HAE crisis during the infectious process. Three months postpartum, she had an acute laryngeal edema crisis with difficulty breathing and speaking, nausea, and vomiting, triggered by nonsteroidal anti-inflammatory drugs (NSAIDs). The patient then received treatment with antihistamines, corticosteroids, and adrenaline, without improvement; for that reason, the allergist administered ecallantide (Kalbitor®) with good response within the first 15 minutes of administration. Some Peruvian HAE patients have developed mild-to-moderate facial and peripheral edema crisis after NSAID intake, without improvement after administration of allergy treatment. In our patient, HAE crisis was not triggered by COVID-19. The patient showed worsening HAE crisis during pregnancy. The first administration of ecallantide (Kalbitor®) in Peru had good response and tolerance to the treatment as shown in this report.
Ecallantide é um tratamento específico totalmente indicado na crise aguda de deficiência de inibidor de C1 HAE. Nosso objetivo é relatar a primeira administração de Ecallantide (Kalbitor®) no Peru, um caso de paciente peruano com EH com inibidor C1 normal sem alteração genética F12. Relatamos o caso de uma paciente de 32 anos, pós-parto, com HAE inibidor de C1 normal, pertencente à Associação Peruana de Angioedema Hereditário de Pacientes. Durante a gravidez, a paciente apresentou aumento na frequência e intensidade das crises de edema abdominal e facial e recebeu tratamento de manutenção com ácido tranexâmico e espasmolítico, com resposta moderada. Um mês após o parto, a paciente apresentou quadro respiratório e teste de PCR molecular positivo para Doença do Coronavírus (COVID-19), sem crise de AEH durante o processo infeccioso. Três meses após o parto, a paciente apresentou crise de edema agudo de laringe com dificuldade para respirar e falar, náuseas e vômitos, desencadeado por AINH. A paciente recebeu tratamento com anti-histamínicos, corticosteroides e adrenalina sem melhora, por isso o alergista administrou Ecallantide (Kalbitor®) com boa resposta nos primeiros 15 minutos após o início da administração. Alguns pacientes peruanos com AEH desenvolveram crises de edema facial e periférico leve a moderado após a ingestão de AINEs, sem melhora após a administração de tratamento para alergia. Em nossa paciente, a crise de AEH não foi desencadeada por infecção aguda por COVID-19. A paciente apresentou agravamento da crise de AEH durante a gravidez. Apresentamos a primeira administração de Ecallantide (Kalbitor®) no Peru, com boa resposta e tolerância ao tratamento.
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Humanos , Feminino , Adulto , Ácido Tranexâmico , Dor Abdominal , Edema Laríngeo , Período Pós-Parto , Angioedemas Hereditários , COVID-19 , Antagonistas dos Receptores Histamínicos , Pacientes , Peru , Terapêutica , Vômito , Anti-Inflamatórios não Esteroides , Corticosteroides , Edema , Hipersensibilidade , NáuseaRESUMO
SUMMARY AIM The aim of this study was to examine the roles of nitric oxide (NOx), endothelial nitric oxide synthetase (eNOS), and asymmetric dimethylarginine (ADMA), which is the major endogenous inhibitor of nitric oxide synthases (NOS), in the pathophysiology of hemorrhoidal disease. METHODS This study included 54 patients with grades 3 and 4 internal hemorrhoidal disease and 54 patients without the disease who attended the General Surgery Clinic. NOx, eNOS, and ADMA levels were measured with the Enzyme-Linked ImmunoSorbent Assay (ELISA) method. RESULTS The patients had higher NO and eNOS levels and lower ADMA levels than the control subjects (p<0.001). A significant highly positive correlation was found between NO and eNOS (p<0.001). Nevertheless, there was a highly negative correlation between ADMA and NO-eNOS(p<0.001, p<0.001). CONCLUSION This preliminary study reveals that higher NOx and eNOS activities and lower ADMA levels in the rectal mucosa are observed in patients with hemorrhoidal disease than in those with normal rectal tissue. The imbalance between endothelium-derived relaxing factors, such as NO and endogenous competitive inhibitor of NOS, ADMA, may cause hemorrhoidal disease. Our study proposes that hemorrhoids display apparent vascular dilatation and present with bleeding or swelling. ADMA is an effective NOS inhibitor and may be a promising therapeutic option for hemorrhoidal disease.
RESUMO OBJETIVO O objetivo deste estudo foi examinar os papéis do óxido nítrico (NOx), do óxido nítrico sintetase endotelial (eNOS) e da dimetilarginina assimétrica (ADMA), que é o principal inibidor endógeno das óxido nítrico sintase (NOS) na fisiopatologia da doença hemorróida. MÉTODOS Este estudo incluiu 54 pacientes com doença hemorróida interna de grau 3 e 4 e 54 pacientes sem a doença que se inscreveram na Clínica Geral de Cirurgia. Os níveis de NOx, eNOS e ADMA foram medidos com o método de Ensaio Imuno absorvente ligado a enzima (ELISA). RESULTADOS Os pacientes têm níveis mais altos de NO e eNOS e níveis mais baixos de ADMA do que os indivíduos controle (p <0,001). Uma correlação altamente positiva significativa foi encontrada entre o NO-eNOS (p <0,001). No entanto, houve uma correlação negativa muito séria entre ADMA e NO-eNOS (p <0,001, p <0,001). CONCLUSÃO Este estudo preliminar revela que os pacientes com doença hemorróida têm atividades mais altas de NOx e eNOS e níveis mais baixos de ADMA na mucosa retal do que os pacientes com tecido retal normal. Desequilíbrio entre o fator relaxante derivado do endotélio, como; O NO e o inibidor competitivo endógeno da NOS, ADMA, podem causar doenças hemorróidas. Nosso estudo propõe que as hemorróidas exibam aparente dilatação vascular e apresentam sangramento ou inchaço, a ADMA é um inibidor eficaz da NOS e pode ser uma opção terapêutica promissora para a doença hemorróida.
Assuntos
Humanos , Hemorroidas , Arginina/análogos & derivados , Óxido Nítrico Sintase Tipo III , Óxido NítricoRESUMO
INTRODUCTION: We evaluated the presence of sIgA in saliva, versus Escherichia coli secreted proteins (Esp) related to the type III secretion system (T3SS), and its semi-quantitative concentration in children under 2 years-old (no longer breastfed) who were previously colonized or infected with enteropathogenic E. coli (EPEC). METHODS: We analyzed the presence of sIgA in 40 children, who previously had positive cultures for EPEC associated (n=17) or not associated (n=23) with diarrhea, using the Western Blot technique versus E. coli secreted proteins: EspABCD. A semi-quantitative measurement of the reaction for each protein was made by its density peaks (OD). RESULTS: We found sIgA versus all or some EspABCD proteins in both groups. However, the ill patients had higher concentrations of these antibodies than colonized patients. DISCUSSION: The presence of sIgA in saliva could reflect an intestinal immune response and their levels could be related to a greater exposure and/or bacterial load.
Assuntos
Escherichia coli Enteropatogênica , Infecções por Escherichia coli , Proteínas de Escherichia coli , Imunoglobulina A Secretora/análise , Fatores de Virulência/análise , Escherichia coli Enteropatogênica/imunologia , Infecções por Escherichia coli/diagnóstico , Infecções por Escherichia coli/imunologia , Proteínas de Escherichia coli/análise , Humanos , Lactente , Saliva/imunologia , Sistemas de Secreção Tipo III/análiseRESUMO
Introducción: El eco-Doppler carotídeo es la prueba de elección en el estudio inicial y de seguimiento del ictus aterotrombótico. Objetivo: Describir los hallazgos ecográficos en ambos ejes carotídeos en pacientes con infarto cerebral aterotrombótico del territorio vascular homónimo. Métodos: Se realizó una investigación observacional con todos los pacientes (63), que acudieron al Hospital Militar Central "Dr. Carlos J. Finlay", entre octubre del 2012 y septiembre del 2013, con diagnóstico clínico y tomográfico de infarto cerebral aterotrombótico de territorio anterior, a los que se les realizó eco-Doppler carotídeo. Resultados: Se contabilizaron mayor cantidad de placas de ateromas en el eje carotídeo homolateral al ictus aterotrombótico (54,3 por ciento) y la gran mayoría de estos fueron inestables (98,4 por ciento). La placa tipo III (50 por ciento), la irregularidad del contorno (54,1 por ciento) y la estenosis menor del 49 por ciento (57,6 por ciento) fueron los hallazgos ecográficos que dominaron en el eje contralateral al infarto. En ambas carótidas también fueron las placas tipo III (47,1 por ciento), la irregularidad de los contornos (51,6 por ciento), las estenosis no significativas (54,3 por ciento) y la inestabilidad de estas (94,4 por ciento), las que predominaron. Conclusiones: La aterosclerosis carotídea en el ictus aterotrombótico describe mayoritariamente placas tipo III irregulares, que provocan estenosis menores del 49 por ciento en ambos ejes carotídeos y la inestabilidad es casi constante, con una incidencia ligeramente mayor en el eje carotídeo homolateral al infarto. La frecuencia del resto de las cualidades de las placas de ateromas enunciadas, domina levemente en el eje carotídeo contralateral(AU)
Introduction: Carotid echo-Doppler is the test of choice in the initial and follow-up study of atherothrombotic stroke. Objective: To describe echographic findings in both carotid axes in patients with atherothrombotic cerebral infarction of the homonymous vascular territory. Methods: Sixty-three patients underwent an observational and cross-sectional investigation at Dr. Carlos J. Finlay Central Military Hospital from October 2012 to September 2013. They have a clinical and tomographic diagnosis of atherothrombotic cerebral infarct from the previous territory and the underwent a carotid echo-Doppler. Results: We recorded higher number of atheromatous plaques in the homolateral carotid axis at atherothrombotic stroke (54.3 percent) and the majority was unstable (98.4 percent). Type III plate (50 percent), irregularity of the contour (54.1 percent) and less than 49 percent stenosis (57.6 percent) were the echographic findings that dominated the axis contralateral to the infarction. In both carotids, type III plaques (47.1 percent), irregularity of the contours (51.6 percent), non-significant stenosis (54.3 percent) and instability (94.4 percent) predominated. Conclusions: Carotid atherosclerosis in atherothrombotic stroke mostly describes the presence of irregular, type III plaques that cause stenosis of less than 49 percent in both carotid axes. The instability of them is almost constant, with a slightly higher incidence in the homolateral carotid axis to infarction. The frequency of the rest of the qualities of the listed atheromatous plaques slightly dominates in the contralateral carotid axis(AU)
Assuntos
Humanos , Masculino , Feminino , Diagnóstico Clínico , Seguimentos , Acidente Vascular Cerebral , Aterosclerose/complicações , Placa Aterosclerótica , Estudos TransversaisRESUMO
Dando continuidade aos artigos da série "Perguntas que você sempre quis fazer, mas nunca teve coragem", que tem como objetivo responder e sugerir referências para o melhor entendimento das principais dúvidas dos pesquisadores do Hospital de Clínicas de Porto Alegre sobre estatística, este segundo artigo se propõe a responder às principais dúvidas levantadas sobre Teste de Hipóteses. São discutidas questões referentes à metodologia de um teste de hipóteses na concepção clássica de Inferência Estatística, bem como tamanho de efeito, tipos de erros, valor de p e poder. Os conceitos são abordados numa linguagem acessível ao público leigo e diversas referências são sugeridas para os curiosos em relação ao tema. (AU)
Continuing the series of articles "Questions you have always wanted to ask, but never had the courage to", which aims to answer the most common questions of researchers at Hospital de Clínicas de Porto Alegre regarding statistics and to suggest references for a better understanding, this second article addresses the topic of hypothesis testing. The hypothesis testing method is discussed from a classical conception of statistical inference, including effect size, type of errors, p-value and power. The concepts are explained in plain language for lay readers and several references are suggested for those curious about the topic. (AU)
Assuntos
Humanos , Testes de Hipótese , Interpretação Estatística de DadosRESUMO
Introducción: La anestesia regional es la más empleada en la cesárea obstétrica. En particular, el uso de la anestesia intratecal tiene sus ventajas. Aunque la tasa de falla es baja, la aparición de este evento genera dificultades que merecen atención. Objetivo: Describir la conducta anestésica en una paciente obstétrica en la que falla la anestesia regional intratecal. Caso clínico: Paciente femenina, de 20 años a la que se le administró anestesia intratecal por el especialista. No hubo errores en la punción lumbar, esta se realizó con trócar 25 punta Whitacre. No se constató bloqueo sensitivo, motor ni simpático, por lo que se realizó anestesia general endotraqueal, la cual transcurrió sin dificultades. En el posoperatorio inmediato se observa hiperlaxitud articular lo que llevó a sospechar el diagnóstico. Este fue positivo conjuntamente con el servicio de Neurología, se determinó Síndrome de Ehlers danlos tipo III. Conclusiones: El índice de falla es muy bajo en anestesia suaracnoidea pero si se presenta un paciente de este tipo, debe descartarse por completo. Existen pocos casos documentados de resistencia a la anestesia local; pero si así fuera, debe estudiarse exhaustivamente para buscar estrategias que permitan un acto anestésico óptimo(AU)
Introduction: Regional anesthesia is the most used in obstetric caesarean section. In particular, the use of intrathecal anesthesia has its advantages. Although the failure rate is low, the onset of this event generates difficulties that deserve attention. Objective: To describe the anesthetic management in an obstetric patient with failure of regional intrathecal anesthesia. Clinical case: Female patient, aged 20 years, who was administered intrathecal anesthesia by the specialist. There were no errors in the lumbar puncture, this was done with a trocar 25 of Whitacre tip. No sensory, motor or sympathetic block was observed, so general endotracheal anesthesia was performed, which went on smoothly. In the immediate postoperative period, joint hypermobility was observed, leading to suspicion of the diagnosis. This was positive in conjunction with the Neurology service, Ehlers-Danlos syndrome type 3 was determined. Conclusions: The failure rate is very low for subarachnoid anesthesia. However, for a patient of this type, it should be completely ruled out. There are few documented cases of resistance to local anesthesia. If it were the case, it should be studied exhaustively to look for strategies that allow an optimal anesthetic management(AU)
Assuntos
Humanos , Feminino , Adulto Jovem , Resistência a Medicamentos/genética , Cesárea/métodos , Raquianestesia/métodos , Síndrome de Ehlers-Danlos/complicações , Anestesia Obstétrica/métodosRESUMO
Los procesos inmunitarios son utilizados por el organismo para defenderse de la agresión de agentes infecciosos; no obstante, en ciertos casos, el organismo reacciona de forma inapropiada o excesiva ocasionando diversos tipos de daño tisular. Estas situaciones, que conocemos como hipersensibilidad, pueden tener aspectos positivos o negativos al poder causar ellos mismos la enfermedad. Se presenta el caso de una niña de 14 años de edad, que acude al Hospital Pediátrico Docente William Soler después de varios ingresos en otros centros de salud, donde se planteó el diagnóstico de un pie de madura. Después de varias investigaciones y con el antecedente de alergia a diferentes medicamentos, los cuadros de amigdalitis a repetición, los datos del laboratorio y la clínica que presentaba la paciente, se estableció el diagnóstico de una vasculitis por reacción de hipersensibilidad tipo III. Por las características tan atípicas del cuadro clínico de esta paciente y la dificultad para llegar a un diagnóstico es importante la presentación de este caso(AU)
The immune processes are used by the body to defend against the aggression of infectious agents; however, in certain cases, the body reacts inappropriately or excessively causing various types of tissue damage. These situations, which we know as hypersensitivity, can have positive or negative aspects by being able to cause the disease themselves. We present the case of a 14-year-old girl who attended the William Soler Pediatric Teaching Hospital after several admissions to other health centers, where the diagnosis of a mature foot was raised. After several investigations and with the history of allergy to different drugs, the recurrent tonsillitis symptoms, the laboratory data and the clinic presented by the patient, the diagnosis of a vasculitis due to type III hypersensitivity reaction was established. Because of the atypical characteristics of this patient's clinical picture and the difficulty in reaching a diagnosis, the presentation of this case is important(AU)
Assuntos
Humanos , Feminino , Adolescente , Vasculite/etiologia , Doenças do Complexo Imune/diagnóstico , Relatos de CasosRESUMO
Los procesos inmunitarios son utilizados por el organismo para defenderse de la agresión de agentes infecciosos; no obstante, en ciertos casos, el organismo reacciona de forma inapropiada o excesiva ocasionando diversos tipos de daño tisular. Estas situaciones, que conocemos como hipersensibilidad, pueden tener aspectos positivos o negativos al poder causar ellos mismos la enfermedad. Se presenta el caso de una niña de 14 años de edad, que acude al Hospital Pediátrico Docente William Soler después de varios ingresos en otros centros de salud, donde se planteó el diagnóstico de un pie de madura. Después de varias investigaciones y con el antecedente de alergia a diferentes medicamentos, los cuadros de amigdalitis a repetición, los datos del laboratorio y la clínica que presentaba la paciente, se estableció el diagnóstico de una vasculitis por reacción de hipersensibilidad tipo III. Por las características tan atípicas del cuadro clínico de esta paciente y la dificultad para llegar a un diagnóstico es importante la presentación de este caso(AU)
The immune processes are used by the body to defend against the aggression of infectious agents; however, in certain cases, the body reacts inappropriately or excessively causing various types of tissue damage. These situations, which we know as hypersensitivity, can have positive or negative aspects by being able to cause the disease themselves. We present the case of a 14-year-old girl who attended the William Soler Pediatric Teaching Hospital after several admissions to other health centers, where the diagnosis of a mature foot was raised. After several investigations and with the history of allergy to different drugs, the recurrent tonsillitis symptoms, the laboratory data and the clinic presented by the patient, the diagnosis of a vasculitis due to type III hypersensitivity reaction was established. Because of the atypical characteristics of this patient's clinical picture and the difficulty in reaching a diagnosis, the presentation of this case is important(AU)
Assuntos
Feminino , Adolescente , Vasculite/etiologia , Doenças do Complexo Imune/diagnósticoRESUMO
Resumen Introducción. La enfermedad por almacenamiento de glucógeno de tipo III es una alteración autosómica recesiva, en la cual las mutaciones del gen AGL causan una deficiencia en la enzima desramificadora de glucógeno. Se caracteriza por hipoglucemia, hepatomegalia y miopatías progresivas. El análisis molecular del gen AGL ha evidenciado mutaciones que difieren según la población estudiada. En la actualidad, no existen reportes que describan mutaciones en el AGL de pacientes colombianos con esta condición. Objetivo. Describir las características clínicas y moleculares de diez pacientes colombianos con enfermedad por almacenamiento del glucógeno de tipo III. Materiales y métodos. Se analizaron diez pacientes pediátricos colombianos con la enfermedad y se hizo su estudio genético mediante la secuenciación de las regiones que codifican y las intrónicas circundantes del gen AGL con el método de Sanger. Resultados. Todos los pacientes tenían el fenotipo clásico de la enfermedad. El estudio genético reveló la mutación p.Arg910X en dos pacientes. Uno presentó la mutación p.Glu1072AspfsX36 y otro resultó heterocigoto compuesto con las mutaciones p.Arg910X y p.Glu1072AspfsX36. Asimismo, en tres pacientes se detectó la deleción de los exones 4, 5 y 6 del gen AGL. Los estudios de simulación computacional predijeron que estos defectos eran patogénicos. En tres pacientes no se encontraron mutaciones en las regiones amplificadas. Conclusión. Se encontraron mutaciones y deleciones que explican el fenotipo clínico de los pacientes. Este es el primer reporte en el que se describe el fenotipo clínico y el espectro de mutaciones en el gen AGL de pacientes colombianos, lo cual es importante para ofrecer un apropiado pronóstico, y asesoría genética al paciente y a su familia.
Abstract Introduction: Type III glycogen storage disease (GSD III) is an autosomal recessive disorder in which a mutation in the AGL gene causes deficiency of the glycogen debranching enzyme. The disease is characterized by fasting hypoglycemia, hepatomegaly and progressive myopathy. Molecular analyses of AGL have indicated heterogeneity depending on ethnic groups. The full spectrum of AGL mutations in Colombia remains unclear. Objective: To describe the clinical and molecular characteristics of ten Colombian patients diagnosed with GSD III. Materials and methods: We recruited ten Colombian children with a clinical and biochemical diagnosis of GSD III to undergo genetic testing. The full coding exons and the relevant exon-intron boundaries of the AGL underwent Sanger sequencing to identify mutation. Results: All patients had the classic phenotype of the GSD III. Genetic analysis revealed a mutation p.Arg910X in two patients. One patient had the mutation p.Glu1072AspfsX36, and one case showed a compound heterozygosity with p.Arg910X and p.Glu1072AspfsX36 mutations. We also detected the deletion of AGL gene 3, 4, 5, and 6 exons in three patients. The in silico studies predicted that these defects are pathogenic. No mutations were detected in the amplified regions in three patients. Conclusion: We found mutations and deletions that explain the clinical phenotype of GSDIII patients. This is the first report with a description of the clinical phenotype and the spectrum of AGLmutations in Colombian patients. This is importantto provide appropriate prognosis and genetic counseling to the patient and their relatives.
Assuntos
Criança , Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Doença de Depósito de Glicogênio Tipo III/diagnóstico , Doença de Depósito de Glicogênio Tipo III/genética , Fenótipo , Deleção de Sequência , Colômbia , MutaçãoRESUMO
ABSTRACT Objectives: to evaluate, histologically and macroscopically, the influence of Copaifera multijuga (Copaíba) oil-resin on the healing process of cutaneous wounds, comparing it with nitrofurazone. Methods: we divided 36 rats into three groups of 12 animals, according to the treatment to be administered. Group SL (control) received saline on the lesion; the Group OIL received topical treatment with Copaíba oil; and the Group NITRO was treated with Nitrofurazone. We inflicted a circular wound of 8mm in diameter on the back of each animal. We subdivided each of the three groups of 12 animals into three subgroups, according to treatment time and euthanasia (7, 14 and 21 days). All animals received the proposed treatment daily. We photographed the lesions for area measurement, as well as for evaluation of macroscopic aspects. We resected and stained the scars to quantify and qualify elastic fibers, collagen, degree of epithelization, neovascularization and inflammation. Results: although the saline solution provided a faster wound closure in its initial phase, after 14 days the wound size of the three groups tested was the same. Levels of inflammation and neovascularization were similar in all three groups. The amount of collagen and elastic fibers was higher in the Nitrofurazone and Copaíba oil groups. Conclusion: in male Wistar rats, Copaifera multijuga oil-resin positively influences the healing process, but it is less effective than nitrofurazone in healing by secondary intention.
RESUMO Objetivo: avaliar histologicamente e macroscopicamente a influência do óleo-resina de Copaifera multijuga no processo de cicatrização de feridas cutâneas, comparando com o grupo submetido ao uso da nitrofurazona. Métodos: foram utilizados 36 ratos, divididos em três grupos de 12 animais, conforme o tratamento a ser administrado. Grupo SF (controle, recebeu soro fisiológico sobre a lesão), Grupo ÓLEO (tratamento tópico com óleo de Copaíba), Grupo NITRO (tratamento tópico com Nitrofurazona). Foi confeccionada uma ferida circular de 8mm de diâmetro no dorso de cada animal. Cada um dos três grupos de 12 animais foi subdividido em três subgrupos, de acordo com o tempo de tratamento e de eutanásia (7, 14 e 21 dias). Todos os animais receberam o tratamento proposto diariamente. As lesões foram fotografadas para mensuração de sua área, bem como, avaliados aspectos macroscópicos. As cicatrizes foram ressecadas e coradas, para quantificar e qualificar as fibras elásticas, colágenas, grau de epitelização, neovascularização e inflamação. Resultados: embora o soro fisiológico tenha proporcionado um fechamento mais rápido da ferida em sua fase inicial, a partir de 14 dias o tamanho das feridas dos três grupos testados se equivaleu. Níveis de inflamação e neovascularização foram semelhantes nos três grupos. A quantidade de fibras colágenas e elásticas foi maior nos grupos Nitrofurazona e Óleo de Copaíba. Conclusão: em ratos machos da linhagem Wistar, o óleo-resina de Copaifera multijuga influencia positivamente no processo de cicatrização, porém é menos eficaz que a nitrofurazona na cicatrização por segunda intenção.