Congenital and hereditary nail disease. / Patología ungueal congénita y hereditaria.

Nail disorders in newborns can show independently or as components of systemic illnesses or genodermatoses. The examination of these abnormalities is complex and sometimes challenging. However, familiarity with these disorders can significantly contribute to uncovering potential underlying conditions. This review includes the physiological nail changes seen within the first few months of life, such as Beau's lines, onychoschizia, koilonychia, congenital nail fold hypertrophy of the first digit, and onychocryptosis. This review also focuses on the most relevant congenital disorders reported and how to perform differential diagnosis. Finally, this review highlights those hereditary diseases in which nail involvement is crucial for diagnosis, such as nail-patella syndrome, congenital pachyonychia, or congenital dyskeratosis, among others.

Displasia fibromuscular y síndrome de ligamento arcuato medio. Infrecuentesy simultáneos / Fibromuscular dysplasia and median arcuate ligament syndrome. Rare and simultaneous findings

Introducción: la displasia fibromuscular (DFM) es una patología poco frecuente de la capa muscular de las arterias. El síndrome de ligamento arcuato medio (SLAM) es una entidad infrecuente causada por la compresión extrínseca del tronco celíaco por el diafragma. Caso clínico: presentamos el caso de una mujer joven con DFM diagnosticada de afectación a nivel del tronco celíaco y de la arteria hepática común. Ante clínica de dolor abdominal, se solicita angio TC, que describe un SLAM asociado a la DFM. Se decide sección quirúrgica del ligamento arcuato y descompresión del tronco celíaco mediante abordaje robótico. Discusión: en ambas entidades la angiografía es el trataminto de referencia para el diagnóstico. El tratamiento de primera línea de la DFM es el endovascular mediante angioplastia, y del SLAM, el quirúrgico, seccionando el ligamento arcuato.(AU)

Introduction: fibromuscular dysplasia (FMD) is a rare disorder that affects the muscular layer of the arteries. The medianarcuate ligament syndrome (MALS) is also a rare disorder due to the extrinsic compression of the celiac trunk by thediaphragm.Case report: we report the case of a young woman with FMD and splachnic involvement of the celiac trunk and thecommon hepatic artery level. After presenting with abdominal pain, a CCTA was performed that revealed the presenceof FMD-related MALS. The surgical section of the arcuate ligament and decompression of celiac trunk were decided andperformed through robotic approach.Discussion: the gold standard for the diagnosis of both entities is angiography. However, while the first-line therapy ofFMD is endovascular, in the case MALS the best alternative is surgical treatment sectioning the arcuate ligament.(AU)

Gel immersion endoscopic mucosal resection for early gastric neoplasms: a multicenter case series study.

Several cases have been reported that suggest the efficacy of gel immersion endoscopic mucosal resection (GI-EMR) for gastric neoplasms. However, no study has evaluated treatment outcomes of GI-EMR for gastric neoplasms. This study aimed to investigate the efficacy and safety of GI-EMR for early gastric neoplasms. Nine patients (17 lesions) undergoing gastric GI-EMR were included, with a median lesion size of 10 mm (interquartile range [IQR] 5-13 mm). All lesions were protruding or flat elevated. The median procedure time was 3 minutes (IQR 2-5) and en bloc resection was achieved in all cases. Among 15 neoplastic lesions, the R0 resection rate was 86.7% (13/15 lesions). Adverse events included immediate bleeding requiring hemostasis in two cases, which was controlled endoscopically. No delayed bleeding or perforation occurred. In conclusion, GI-EMR may be a safe and effective treatment for early, small gastric neoplasms. However, due to the small sample in the present study, further investigation is required regarding the indication for this technique.

Espondiloencondrodisplasia con desregulación inmune relacionada a ACP5. Reporte de cuatro casos / Spondyloenchondrodysplasia with immune dysregulation related to ACP5. A report of 4 cases

La espondiloencondrodisplasia con desregulación inmune relacionada a ACP5 (SPENCDI #607944, por la sigla de spondyloenchondrodysplasia with immune dysregulation y el número que le corresponde en OMIM, Online Mendelian Inheritance in Man) es una displasia inmuno-ósea poco frecuente con manifestaciones heterogéneas y gravedad variable. Presenta lesiones espondilometafisarias, disfunción inmune y compromiso neurológico. Se reportan aspectos clínicos, radiológicos y genéticos de cuatro niñas con SPENCDI en un hospital pediátrico. Todas presentaron manifestaciones esqueléticas y tres de ellas enfermedad inmunológica grave. Se encontró en tres pacientes la variante probablemente patogénica c.791T>A; p.Met264Lys en homocigosis, y en una paciente las variantes c.791T>A; p.Met264Lys y c.632T>C; p.lle211Thr (variante de significado incierto con predicción patogénica según algoritmos bioinformáticos) en heterocigosis compuesta en ACP5. La presencia de la variante repetida c.791T>A sugiere la posibilidad de un ancestro en común en nuestra población. El reconocimiento y diagnóstico de esta entidad es importante para lograr un oportuno abordaje, que deberá ser multidisciplinario, orientado hacia la prevención de posibles complicaciones.

Spondyloenchondrodysplasia with immune dysregulation related to ACP5 (SPENCDI, OMIM number 607944) is an uncommon immune-skeletal dysplasia with heterogeneous manifestations and variable severity. It is characterized by spondylar and metaphyseal lesions, immune dysfunction, and neurological involvement. Here we report the clinical, radiological and genetic aspects of 4 girls with SPENCDI treated at a children's hospital. They all had skeletal manifestations and 3 developed severe immune disease. In 3 patients, the likely pathogenic variant c.791T>A; p.Met264Lys (homozygous mutation) was observed, while 1 patient had variants c.791T>A; p.Met264Lys and c.632T>C; p.lle211Thr (variant of uncertain significance with pathogenic prediction based on bioinformatics algorithms) caused by a compound heterozygous mutation in ACP5. The repeated presence of variant c.791T>A suggests the possibility of a common ancestor in our population. The recognition and diagnosis of this disorder is important to achieve a timely approach, which should be multidisciplinary and aimed at preventing possible complications.

IS ENDOSCOPIC THERAPY SAFE AND EFFICIENT IN THE TREATMENT OF LESIONS LOCATED IN THE RECTUM? / A TERAPÊUTICA ENDOSCÓPICA É SEGURA E EFICIENTE NO TRATAMENTO DE LESÕES LOCALIZADAS NO RETO?

Introduction: Colorectal cancer is among the most common malignant neoplasms worldwide and the pre-malignant lesions that lead to its appearance are polyps in their various types. As a minimally invasive method, endoscopic resection emerges as the preferred method for focused lesions. Objective: To carry out a review verifying whether endoscopic therapy is safe and efficient in the treatment of lesions located in the rectum. Method: Narrative review collecting information published on virtual platforms (SciELO, Google Scholar, Pubmed and Scopus). Initially, a search was carried out for descriptors related to the topic, which were identified through DeCS/MeSH, namely: "colorectal cancer, adenoma, mucosectomy, dysplasia, polyp" with AND or OR search, considering the title and/or abstract. Afterwards, only those that were most similar were chosen, and the works were read in full. Results: 41 articles were evaluated. Conclusion: With the evolution of concepts and technological improvements, there is an increasing possibility of diagnosing non-polypoid or superficial lesions (superficially elevated, flat or depressed) and laterally spreading or laterally growing lesions or tumors (LST). ) that, by definition, have a diameter greater than 10 mm. Mucosectomy may be indicated for minimally invasive treatment or prevention in cases that have not yet advanced and can be cured endoscopically.

Introdução: O câncer colorretal está entre as neoplasias malignas mais comuns em todo mundo e as lesões pré-malignas que levam ao seu surgimento são os pólipos em seus variados tipos. Como forma minimamente invasiva a ressecção endoscópica desponta como método preferencial nas lesões focadas. Objetivo: Efetuar revisão verificando se a terapêutica endoscópica é segura e eficiente no tratamento de lesões localizadas no reto. Método: Revisão narrativa colhendo informações publicadas em plataformas virtuais (SciELO, Google Scholar, Pubmed e Scopus). Inicialmente foi realizada busca por descritores relacionados ao tema, os quais foram identificados por meio do DeCS/MeSH, a saber: "câncer colorretal, adenoma, mucosectomia, displasia, pólipo" e seus equivalentes em inglês "colorectal cancer, adenoma, mucosectomy, dysplasia, polyp" com busca AND ou OR, considerando o título e/ou resumo. Após, foram escolhidos somente os que tinham maior similitude, e realizada a leitura na íntegra dos trabalhos. Resultados: Foram avaliados 41 artigos. Conclusão: Com a evolução dos conceitos e com a melhora tecnológica, há possibilidade de diagnosticar cada vez maior lesões não-polipoides ou superficiais (superficialmente elevadas, planas ou deprimidas) e as lesões ou tumores de espraiamento ou crescimento lateral (LST, Laterally Spreading Tumor) que por definição apresentem diâmetro maior que 10 mm. A mucosectomia pode ser indicada para o tratamento minimanente invasivo ou prevenção nos casos ainda não avançados e que possam ser curados endoscopicamente.

Incontinencia pigmenti. progresión clínica y diagnóstico de un caso / Incontinentia pigmenti. clinical progression and diagnosis of a case

Resumen La incontinencia pigmenti(IP) es una genodermatosis infrecuente ysistémica del neuroectodermo que involucra la piel, el sistema nervioso central, los ojos y los dientes, entre otros. Los signos clínicos dermatológicos constituyen el principal criterio diagnóstico, debido a que suelen ser los primeros en manifestarse. Se describen cuatro estadios característicos de la enfermedad según las lesiones cutáneas predominantes. No obstante, su pronóstico depende de los signos y síntomas extracutáneos. El diagnóstico se centra en criterios clínicos, histopatológicos y/o genéticos. Visto que no existe una terapéutica específica, la atención médica de esta enfermedad es multidisciplinaria y sintomática, y debe acompañarse del asesoramiento genético a los afectados y sus familiares. Presentamos el caso de una niña, nacida a término completo, quien presentó un cuadro clínico compatible con incontinencia pigmenti, del cual detallamos su progresión clínica, diagnóstico y seguimiento.

Abstract Incontinentiapigmenti is a rare and multisystemic,neuroectodermal genodermatosis that involves the skin, central nervous system, eyes and teeth, among others. Dermatological clinical signs are the main diagnostic criteria because they are usually the first to manifest. Four characteristic stages of the disease are described according to the predominant skin lesions. Nonetheless, prognosis depends on extracutaneous clinical signs and symptoms. Diagnosis is based on clinical, histopathological and/or genetic criteria. Considering there is no specific treatment available, the management of this disease is multidisciplinary and symptomatic, and must be accompanied by genetic counseling for those affected and their families. We present in a full-tern newborn femalethat presented with a clinical picture compatible with incontinentiapigmenti, and we will detail the clinical progression, diagnosis, and follow-up.

Clínica, epidemiología e imagenología del fibroma osificante y la displasia fibrosa del territorio cráneo-maxilofacial: revisión narrativa / Clinical, epidemiology and imaging of ossifiying fibroma and fibrous dysplasia of the cranio-maxillofacial territory: narrative review

Introducción: El fibroma osificante (FO) y la displasia fibrosa (DF) tienen características imagenológicas e histopatológicas similares que dificultan el diagnóstico diferencial. El propósito de la presente revisión narrativa es analizar las características clínicas, epidemiológicas e imagenológicas del FO y la DF, y evaluar la relación entre las características imagenológicas y las variantes histopatológicas del FO, en reportes y series de casos publicados.Materiales y métodos:Se realizó una búsqueda de reportes y series de casos de FO y DF entre 2017-2021 en PubMed, Scopus y Web of Science. Los casos debían tener suficiente información clínica, epidemiológica, histopatológica e imagenológica.Resultados:Se incluyeron 23 artículos con 25 lesiones: 17 FO y 8 DF. El tiempo de evolución de DF es más prolongado que FO. FO se ubica con mayor tendencia en complejo osteomeatal en comparación con DF. Sólo FO presentó alteraciones en piel, radiolucidez/hipodensidad periférica, perforación ósea y rizalisis externa, además, tuvo mayor tendencia al avance a espacios anatómicos adyacentes y a generar asimetría facial y/o craneal. FO psammomatoide y FO trabecular comparten patrones imagenológicos y tienen límites definidos corticalizados. FO convencional tuvo mayor tendencia a perforar corticales. DF puede tener límites mal definidos y definidos corticalizados. El FO mostró características imagenológicas de mayor agresividad que la DF.Conclusiones:La histología e imagenología por sí solas no son decisivas en el diagnóstico de FO y DF. Es imprescindible considerar conjuntamente clínica, imagenología e histopatología, enfatizando en las características que orienten el diagnóstico diferencial.(AU)

Introduction: Ossifying fibroma (OF) and fibrous dysplasia (FD) have similar imaging and histopathological characteristics, which make differential diagnosis difficult. The aim of this narrative review was to analyze the clinical, epidemiological and imaging characteristics of OF and FD, as well as to evaluate the relationship between imaging characteristics and histopathologic variants of OF, in reports and case series published.Materials and methods:A search of reports and case series of OF and FD between 2017-2021 in PubMed, Scopus and Web of Science was performed. The cases had to have enough clinical, epidemiological, histopathological and imaging information.Results:23 articles with 25 lesions were included: 17 OF and 8 FD. FD had a longer time of evolution than OF. OF is more likely to be in osteomeatal complex compared to FD. Only OF had skin alterations, peripheral radiolucency/hypodensity, bone perforation and external root resorption, in addition, it had a greater tendency to advance to adjacent anatomical spaces and generate facial and/or cranial asymmetry. Psammomatoid OF and trabecular OF share imaging patterns and have defined and corticated margins. Conventional OF had a greater tendency to cortical perforation. DF can have ill-defined and defined and corticated margins. OF has imaging characteristics of greater aggressiveness than FD.Conclusion:Histology and imaging alone are not decisive in OF and FD diagnosis. It is essential to consider clinical, imaging and histopathological evaluations as a whole, emphasizing in the characteristics that guide the differential diagnosis.(AU)

“Displasia ósea florida: signos imagenológicos reportados en artículos odontológicos publicados entre el 2012 y 2021” / Florid bone dysplasia: imaging signs reported in dental articles published between 2012 and 2021

Introducción: Identificar los signos imagenológicos característicos de la displasia ósea florida reportados en artículos publicados en revistas odontológicas indexadas en la principal fuente de información de salud (Medline) entre el año 2012 al 2021. Materiales y métodos: Se llevó a cabo un estudio observacional, transversal y retrospectivo evaluando las principales revistas odontológicas encontradas en publicaciones entre los años 2012 al 2021 mediante la búsqueda electrónica en la base de datos de Medline vía PubMed, usando los términos (cemento-osseus displasia) AND (radiology), luego se procedió a depurar la muestra siguiendo los criterios de selección estipulados. Resultados: Se evaluó un total de 7 artículos que cumplieron con los criterios de selección en donde se recopiló la información de 363 casos de displasia ósea florida. Encontrándose en promedio esta lesión a los 51.88 años según la edad con predominio en el sexo femenino, en promedio 49.51 frente a 2.34 para el masculino. Según la ubicación de la lesión, los artículos muestran que es más frecuente en mandíbula con un promedio de 28 casos, seguido de ambos maxilares con 23.29 casos y muy raro en la maxila con 0.57 casos. Imagenológicamente los artículos describen lesiones radiolúcidas o hipodensas en promedio 2.29 casos, mixtas 36.57 casos y radiopacas o hiperdensas en promedio 20.29 casos. Conclusiones: De acuerdo a lo descrito en la literatura, la displasia ósea florida suele presentarse con mayor frecuencia en mujeres adultas, a partir de la quinta década de vida, disminuyendo su incidencia de la sexta década en adelante. Su localización más frecuente es en la mandíbula, en segundo lugar, en ambos maxilares y muy raramente solo en la maxila. Imagenológicamente se presentan con mayor incidencia con un patrón mixto. (AU)

Introduction: Identify the characteristic imaging signs of florid bone dysplasia reported in articles published in dental journals indexed in the main source of health information (Medline) between 2012 and 2021. Materials and methods: An observational, cross-sectional and retrospective study was carried out evaluating the main dental journals found in publications between the years 2012 and 2021 through the electronic search in the Medline database via PubMed. Using the terms (cemento-osseus dysplasia) AND (radiology), we then proceeded to refine the sample following the stipulated selection criteria. Results: A total of 7 articles that met the selection criteria were evaluated, where information from 363 cases of florid bone dysplasia was collected. Finding this lesion on average at 51.88 years according to age, with a predominance in the female sex, on average 49.51 compared to 2.34 for the male. Depending on the location of the lesion, the articles show that it is more frequent in the mandible with an average of 28 cases, followed by both maxillae with 23.29 cases and very rare in the maxilla with 0.57 cases. Imagingly, the articles describe radiolucent or hypodense lesions in an average of 2.29 cases, mixed 36.57 cases, and radiopaque or hyperdense lesions in an average of 20.29 cases. Conclusions: According to what has been described in the literature, florid bone dysplasia tends to occur more frequently in adult women, starting in the fifth decade of life, decreasing its incidence from the sixth decade onwards. Its most frequent location is in the mandible, secondly, in both jaws and very rarely only in the maxilla. Imaging, they present with a higher incidence with a mixed pattern. (AU)

El enigma de la enfermedad de Enrique IV, rey de Castilla: ¿padeció síndrome de McCune-Albright/displasia fibrosa? / The enigma of Henry IV's disease: Did he suffer from McCune-Albright syndrome/fibrous dysplasia?

Introducción: Enrique IV Rey de Castilla, último rey de la dinastía Trastámara, era hermano de Isabel la Católica. Se le conoce como «el impotente». Basándose en las descripciones previas de los historiadores y biógrafos, Gregorio Marañón en 1922 lo catalogó de «Displásico eunucoide con reacción acromegálica y con netos rasgos esquizoides». Métodos: En 1946 se realizó una inspección post mortem del cadáver momificado hallado en el Monasterio de Guadalupe. Se dejó constancia de un documento escrito y algunas fotografías. Hemos recogido los signos y síntomas descritos y aplicado la clasificación internacional de las enfermedades recomendada por la Organización mundial de la Salud, CIE11-2023. También nos hemos apoyado en las monedas emitidas en el monetario de Enrique IV, en las que hemos identificado aumento de la glándula tiroides. Resultados: Con los datos que están accesibles hasta este momento, sugerimos que Enrique IV padeció de forma altamente probable: displasia ósea facial y poliostótica, cifosis, cojera de una extremidad, alteraciones endocrinas múltiples, acromegalia con macrognatia, enfermedad nodular tiroidea, diaforesis maloliente, disfunción eréctil, hipospadias, desarrollo sexual anómalo, «pelvis feminoide», cólicos abdominales, oligodoncia y desplazamientos dentales. Es posible que también padeciera: pubertad precoz, litiasis renal con fosfaturia debilitante, túnel carpiano, trombocitopenia e hiperplasia o adenoma hipofisario productor de hormona de crecimiento. Conclusión: Sugerimos que Enrique IV pudo sufrir un síndrome de McCune-Albrigth asociado a Displasia fibrosa, una enfermedad rara debida a mutaciones activadoras de función en el gen GNAS.(AU)

Background: Henry IV King of Castile, last king of the Trastámara dynasty, was the brother of Isabella the Catholic. He is known as “the impotent”. Based on previous descriptions by historians and biographers, Gregorio Marañón in 1922 described him as “eunuchoid dysplastic with acromegalic reaction and clear schizoid features”. Methods: In 1946, a post-mortem inspection was carried out on the mummified corpse found in the Monastery of Guadalupe. A written document and some photographs were recorded. We have collected the signs and symptoms described and applied the international classification of diseases recommended by the World Health Organisation, ICD11-2023. We have relied on the coins issued in the money of Henry IV, on which we have identified enlargement of the thyroid gland. Results: With the data available at this time, we suggest that Henry IV most probably suffered from: facial and polyostotic bone dysplasia, kyphosis, limb limping, multiple endocrine disorders, acromegaly with macrognatia, nodular thyroid disease, malodorous diaphoresis, erectile dysfunction, hypospadias, abnormal sexual development, “feminoid pelvis”, abdominal colic, oligodontia and dental displacement. It is possible that he also suffered from: precocious puberty, renal lithiasis with debilitating phosphaturia, carpal tunnel, thrombopenia and growth hormone-producing pituitary hyperplasia or adenoma. Conclusion: We suggest that Henry IV may have suffered from McCune–Albrigth syndrome associated with fibrous dysplasia, a rare disease due to gain-of-function mutations in the GNAS gene.(AU)

Displasia septo-óptica (síndrome de De Morsier) con hipopituitarismo y sus múltiples complicaciones: reporte de un caso y revisión de literatura

Presentamos el caso de una paciente con displasia septo-óptica (SOD), también conocida como síndrome de De Morsier, un desorden congénito raro. Se caracteriza por una combinación de alteraciones: hipoplasia del nervio óptico, disfunción hipofisaria y anormalidades de la línea media. Presentamos el caso de una paciente de 37 años con síndrome de De Morsier que consulta por infertilidad. Asocia hipopituitarismo, con déficit de hormona de crecimiento e hipogonadismo hipogonadotrófico, diagnosticada a los 11 años, en contexto de hipocrecimiento e impuberismo. También presenta complicaciones asociadas a estos déficits, como infertilidad, síndrome metabólico y compromiso óseo. Un diagnóstico y tratamiento temprano puede prevenir la morbimortalidad asociada a este síndrome, pero no así la infertilidad. Sin embargo, es posible lograr el embarazo mediante inducción de la ovulación.

The study presents the case of a patient with septo-optic dysplasia (SOD), also known as de Morsier syndrome, which is a rare congenital disorder. It is characterized by a combination of abnormalities, including optic nerve hypoplasia, pituitary dysfunction, and midline abnormalities. We present the case of a 37-year-old female patient with De Morsier syndrome, who seeks medical attention due to infertility. She presents with hypopituitarism, characterized by growth hormone deficiency and hypogonadotropic hypogonadism, diagnosed at the age of 11 in the context of short stature and delayed puberty. The patient also exhibits complications associated with these deficits, such as infertility, metabolic syndrome, and skeletal compromise. Early diagnosis and treatment can prevent morbidity and mortality associated with this syndrome, but unfortunately, infertility remains unaffected. Nevertheless, achieving pregnancy is possible through ovulation induction.

A síndrome de De Morsier, é uma doença congênita rara, caracterizada por uma combinação de alterações: hipoplasia do nervo óptico, disfunção hipofisária e anomalias da linha média. Apresentamos o caso de uma paciente de 37 anos com displasia septo-óptica (SOD), também conhecida como síndrome de De Morsier que consultou por infertilidade. Associado à SOD detectou-se hipopituitarismo, com deficiência de hormônio do crescimento e hipogonadismo hipogonadotrófico diagnosticado aos 11 anos de idade em um contexto de hipocrescimento e impuberdade. Foram observadas também complicações associadas a esses déficits como infertilidade, síndrome metabólica e envolvimento ósseo. O diagnóstico e tratamento precoces podem prevenir a morbimortalidade associada a esta síndrome, mas não a infertilidade. No entanto, a gravidez é possível através da indução da ovulação.

Resultado a largo plazo de una serie de fetos con agenesia aislada del septum pellucidum / Long-term postnatal outcome of fetuses with isolated agenesis of the septum pellucidum

Objetivo: Reportar el resultado a largo plazo de una serie de fetos con agenesia del septum pellucidum aislada (ASP), con medición de su quiasma óptico mediante neurosonografía fetal (NSG). Método: Se incluyeron todas las pacientes con ASP y NSG evaluadas desde el año 2008 a la fecha y con seguimiento hasta su edad escolar. En todos los casos se consignaron los datos clínicos de NSG y de resonancia magnética (RM), cuando esta se realizó. Se entrevistó telefónicamente a los padres. Resultados: Nueve pacientes cumplieron los criterios: cuatro con displasia septo-óptica (DSO) (rango de seguimiento: 5-14 años) y cinco sin DSO (rango de seguimiento: 7-10 años). Un décimo caso se excluyó por tener solo 6 meses de seguimiento. Ninguna de las ASP tuvo otra anomalía detectada en su seguimiento. Ninguno de los casos con DSO tuvo alteración del tamaño de su quiasma óptico en la NSG ni anormalidad en la vía óptica en la RM. Conclusiones: En nuestra población, el riesgo residual de DSO frente a ASP es del 44,4%. En el seguimiento, nuestra definición de ASP por NSG no tuvo falsos negativos con relación a otras anomalías de aparición posnatal, a excepción de la DSO.

Objective: To report the long-term outcome of a series of fetuses with isolated septum pellucidum agenesis (ASP) with measurement of their optic chiasm by fetal neurosonography (NSG). Method: All patients with ASP and NSG evaluated from 2008 to date and with follow-up until their school age were included. In all cases, clinical, NSG and magnetic resonance imaging (MRI) data were recorded. Parents were interviewed by telephone. Results: Nine patients met the criteria: four with septo-optic dysplasia (SOD) (follow-up range: 5-14 years) and five without SOD (follow-up range: 7-10 years). A tenth case was excluded because only 6 months of follow-up. None of the ASP cases had another anomaly detected in their follow-up. None of the cases with DSO had anomaly of the size of their optic chiasm on NSG or abnormality in the optical pathway in the MRI. Conclusions: In our population, the residual risk of DSO versus ASP is 44.4%. At follow-up, our NSG definition of ASP had no false negatives in relation to other postnatal-onset anomalies, except for SOD.

Displasia fibrosa maxilar. Del diagnóstico al tratamiento. Reporte de caso / Maxillary fibrous dysplasia. From diagnosis to treatment: Case report / Displasia fibrosa maxilar. Do diagnóstico ao tratamento: Relato de caso

La displasia fibrosa se puede presentar, en cualquier persona, por una mutación en los primeros meses de gestación. Se trata de lesiones óseas benignas en pacientes jóvenes, en las que el tejido óseo normal es sustituido por tejido conectivo fibroso, debido a una alteración funcional de las células, siendo esta la antesala de una neoplasia. El objetivo de éste artículo es presentar un caso local de Displasia Fibrosa Maxilar, enfatizando el manejo clínico, radiográfico, pre y postoperatorio más pertinente. Por lo tanto, se describe el caso de un paciente adolescente de género masculino, afectado por displasia fibrosa en hemimaxilar derecho, a quien le fueron realizados los estudios imagenológicos e histopatológicos necesarios para obtener el diagnóstico definitivo y decidir el abordaje menos invasivo posible cumpliendo con estándares de estética facial; se realizó abordaje intrabucal para shaving óseo, con sedación consciente bajo estricta vigilancia de la especialista en anestesiología y reanimación. Una vez logrado el contorno deseado mediante el uso de piezas de mano de alta y baja velocidad, se realizó la sutura de los tejidos y el paciente egresó ambulante y con buen estado general de salud.

Fibrous dysplasia can occur in any person due to a mutation in the first months of gestation. These are benign bone lesions in young patients, in which the normal bone tissue is replaced by fibrous connective tissue, due to a functional alteration of the cells, being this the prelude to a neoplasm. The aim of this article is to present a local case of Maxillary Fibrous Dysplasia, emphasizing the most relevant clinical, radiographic, pre and postoperative management. Therefore, we describe the case of an adolescent male patient, affected by fibrous dysplasia in the right hemimaxillary, who underwent the necessary imaging and histopathological studies to obtain the definitive diagnosis and decide the least invasive approach possible in compliance with facial aesthetic standards; an intraoral approach was performed for bone shaving, with conscious sedation under strict supervision of the specialist in anesthesiology and resuscitation. Once the desired contour was achieved through the use of high and low speed handpieces, the tissues were sutured and the patient was discharged ambulatory and in good general health.

A displasia fibrosa pode ocorrer em qualquer pessoa devido a uma mutação nos primeiros meses de gestação. São lesões ósseas benignas em pacientes jovens, nas quais o tecido ósseo normal é substituído por tecido conjuntivo fibroso, devido a uma alteração funcional das células, sendo esse o prelúdio de uma neoplasia. O objetivo deste artigo é apresentar um caso local de Displasia Fibrosa Maxilar, enfatizando o manejo clínico, radiográfico, pré e pós-operatório mais pertinente. Portanto, descrevemos o caso de um paciente adolescente do sexo masculino, afetado por displasia fibrosa no hemimaxilar direito, que foi submetido aos exames de imagem e histopatológicos necessários para obter um diagnóstico definitivo e decidir sobre a abordagem menos invasiva possível, em conformidade com os padrões estéticos faciais; foi realizada uma abordagem intraoral para raspagem óssea, com sedação consciente sob estrita supervisão do especialista em anestesiologia e ressuscitação. Depois que o contorno desejado foi obtido com o uso de peças de mão de alta e baixa velocidade, os tecidos foram suturados e o paciente recebeu alta ambulatorial em bom estado geral de saúde.

Using High-Resolution Anoscopy to Detect Anal Dysplasia Due to Papillomavirus in Patients with Inflammatory Bowel Disease

Introduction: Anal squamous cell carcinoma is rare, but its incidence and mortality have been increasing globally; 90% of cases are related to human papillomavirus (HPV) infection(1,2). Patients with inflammatory bowel disease (IBD) have a higher risk of infection with this virus; an incidence of 5.5 per 100,000 patients has been identified in the IBD group compared to 1.8 in the non-IBD group(3). Materials and methods: A descriptive case series study was conducted with 21 patients with IBD and no perianal symptoms between January and July 2022 at the Institute of Coloproctology in Medellín. They underwent anal cytology, HPV genotyping, and high-resolution anoscopy after explanation and acceptance of the procedure. If lesions were found, ablative treatment was performed. Results: 23% of this cohort had low-grade squamous lesions, while 14.2% had high-grade lesions with dysplasia changes during anoscopy. Besides, 90.4% had positive HPV genotyping, of which 76.1% were high-grade. Conclusions: Our study suggests that this series of patients with IBD behaves as a high-risk group for developing premalignant lesions in association with HPV. High-resolution anoscopy is a cost-effective, painless, and affordable method that, in expert hands, may impact the diagnosis and management of premalignant lesions and decrease the incidence of anal cancer in patients with IBD.

Introducción: El carcinoma anal de células escamosas es raro, pero su incidencia y mortalidad han ido en aumento globalmente. El 90% de los casos están relacionados con la infección por el virus del papiloma humano (VPH)1,2 y los pacientes con enfermedad inflamatoria intestinal (EII) tienen un mayor riesgo de infección por este virus; se ha identificado una incidencia de 5,5 por 100.000 pacientes en el grupo de EII frente a 1,8 en el grupo sin EII3. Metodología: Se realizó un estudio descriptivo de serie de casos en el que se incluyó a 21 pacientes con EII, sin síntomas perianales, entre enero y julio de 2022 en el Instituto de Coloproctología de Medellín, a quienes se les realizó citología anal, genotipificación del VPH y anoscopia de alta resolución, previa explicación y aceptación del procedimiento. Si se encontraban lesiones, se realizaba tratamiento ablativo. Resultados: El 23% de esta cohorte tenía lesiones escamosas de bajo grado, mientras que el 14,2% presentaba lesiones de alto grado con cambios de displasia al momento de la anoscopia. El 90,4% tenían genotipificación positiva para VPH, de los cuales el 76,1% eran de alto grado. Conclusiones: Nuestro estudio sugiere que esta serie de pacientes con EII se comporta como un grupo de alto riesgo para desarrollar lesiones premalignas en asociación con el VPH. La anoscopia de alta resolución es un método rentable, indoloro y asequible que, en manos expertas, puede impactar el diagnóstico y manejo de lesiones premalignas y disminuir la incidencia de cáncer anal en pacientes con EII.

Displasia Cemento Ósea Florida: Reporte de un caso

La Displasia Cemento Ósea Florida corresponde a un tipo de lesión fibro ósea caracterizada por presentar un hueso trabecular con apariencia de tejido conectivo fibroso con áreas similares al cemento radicular. Afecta principalmente a mandíbula, a mujeres y a personas de etnia africana entre la cuarta a la quinta década. Posee crecimiento limitado, presentación de forma simétrica, bilateral y capacidad de afectar de uno a más cuadrantes. Tiene tres etapas de desarrollo, que se presentan con aspecto radiográfico diferente. En la primera etapa se aprecia un área radiolúcida, en la segunda etapa se visualizan radiopacidades circunscritas al área radiolúcida; y en la tercera etapa se observa una clara radiopacidad alrededor de la lesión. Para su correcto diagnóstico se necesita una cuidadosa correlación de los hallazgos clínicos, imagenológicos, de laboratorio e histopatológicos. Se presenta el caso de una paciente de género femenino de 70 años diagnosticada con Displasia Cemento Ósea Florida.

Florid Cemento-Osseous Dysplasia is a type of fibro-osseous lesion characterized by a trabecular bone with the appearance of fibrous connective tissue with areas similar to root cement. It mainly affects the jaw, women and people of African ethnicity between the fourth and fifth decades. It has limited growth, a symmetrical, bilateral presentation and the ability to affect one or more quadrants. It has three stages of development, with different radiographic appearance. The first stage shows a radiolucent area, the second stage shows radiopacities circumscribed to the radiolucent area; and in the third stage a clear radiopacity is observed around the lesion. For its correct diagnosis, a careful correlation of clinical, imaging, laboratory and histopathological findings is needed. The case of a 70-year-old female patient diagnosed with Florid Cemento-Osseous Dysplasia is presented.

Optimal timing of simethicone administration prior to upper endoscopy: A multicenter, single-blind, randomized controlled trial.

Background and study aims Simethicone is useful as premedication for upper endoscopy because of its antifoaming effects. We aimed to evaluate the effect of timing of simethicone administration on mucosal visibility. Patients and methods In this multicenter, randomized, endoscopist-blinded study, patients scheduled for upper endoscopy were randomized to receive 40 mg simethicone at the following time points prior to the procedure: 20 to 30 minutes (early group), 0 to 10 minutes (late group) or 20 mg simethicone at both time points (split-dose group). Images were taken from nine predefined locations in the esophagus, stomach, and duodenum before endoscopic flushing. Each image was scored on mucosal visibility by three independent endoscopists on a 4-point scale (lower scores indicating better visibility), with adequate mucosal visibility defined as a score ≤ 2. Primary outcome was the percentage of patients with adequate total mucosal visibility (TMV), reached if all median subscores for each location were ≤ 2. Results A total of 386 patients were included (early group: 132; late group: 128; split-dose group: 126). Percentages of adequate TMV were 55%, 42%, and 61% in the early, late, and split-dose group, respectively ( P < 0.01). Adequate TMV was significantly higher in the split-dose group compared to the late group ( P < 0.01), but not compared to the early group ( P = 0.29). Differences between groups were largest in the stomach, where percentages of adequate mucosal visibility were higher in the early (68% vs 53%, P = 0.03) and split-dose group (69% vs 53%, P = 0.02) compared to the late group. Conclusions Mucosal visibility can be optimized with early simethicone administration, either as a single administration or in a split-dose regimen.

[The enigma of Henry IV's disease: Did he suffer from McCune-Albright syndrome/fibrous dysplasia?] / El enigma de la enfermedad de Enrique IV, rey de Castilla: ¿padeció síndrome de McCune-Albright/displasia fibrosa?

BACKGROUND: Henry IV King of Castile, last king of the Trastámara dynasty, was the brother of Isabella the Catholic. He is known as "the impotent". Based on previous descriptions by historians and biographers, Gregorio Marañón in 1922 described him as "eunuchoid dysplastic with acromegalic reaction and clear schizoid features". METHODS: In 1946, a post-mortem inspection was carried out on the mummified corpse found in the Monastery of Guadalupe. A written document and some photographs were recorded. We have collected the signs and symptoms described and applied the international classification of diseases recommended by the World Health Organisation, ICD11-2023. We have relied on the coins issued in the money of Henry IV, on which we have identified enlargement of the thyroid gland. RESULTS: With the data available at this time, we suggest that Henry IV most probably suffered from: facial and polyostotic bone dysplasia, kyphosis, limb limping, multiple endocrine disorders, acromegaly with macrognatia, nodular thyroid disease, malodorous diaphoresis, erectile dysfunction, hypospadias, abnormal sexual development, "feminoid pelvis", abdominal colic, oligodontia and dental displacement. It is possible that he also suffered from: precocious puberty, renal lithiasis with debilitating phosphaturia, carpal tunnel, thrombopenia and growth hormone-producing pituitary hyperplasia or adenoma. CONCLUSION: We suggest that Henry IV may have suffered from McCune-Albrigth syndrome associated with fibrous dysplasia, a rare disease due to gain-of-function mutations in the GNAS gene.

Timely radiographic detection of developmental dysplasia of the hip in family medicine residents. Educative intervention.

BACKGROUND: Developmental dysplasia of the hip (DDH) is a complex clinical entity that is usually underdiagnosed, if not detected and managed early, will turn the affected individual into a disabled being, with negative social, economic and emotional effects. OBJECTIVE: To determine the capacity for the timely radiographic detection of DDH before and after an educational intervention. METHOD: An educational intervention is carried out in family medicine resident, where they are given training on detection in DDH radiographic projections. Pre- and post-training evaluation is carried out. Statistical analysis is performed using Student's t and χ2, taking p ≤ 0.05 as significant. RESULTS: 94 residents participated. In the pre-intervention evaluation, 87.2% had no knowledge of the early detection protocol (p = 0.525). It was observed that 98.9% incorrectly drew the Perkins line (p = 0.427), 96.8% the Hilgenreiner line (p = 0.177) and 87.2% did not consider the data of bilateral dysplasia (p = 0.956). After the educational intervention, 87.2% correctly drew the Perkins line (p = 0.926), 97.8% the Hilgenreiner line (p = 0.325) and 78.7% if they considered the data of bilateral dysplasia (p = 0.826). CONCLUSIONS: After this training, 80% of family medicine residents were able to detect DDH in a timely manner.

ANTECEDENTES: La displasia del desarrollo de la cadera (DDC) constituye una entidad clínica compleja que suele ser infradiagnosticada que, de no ser precozmente detectadas y manejadas, convertirán al individuo afectado en un ser discapacitado, con efecto negativo social, económico y emocional. OBJETIVO: Determinar la capacidad para la detección radiográfica oportuna de la DDC antes y después de una intervención educativa en médicos residentes de medicina familiar. MÉTODO: Se realizó una intervención educativa en residentes de medicina familiar, en la que se les dio capacitación sobre detección de DDC en proyecciones radiográficas. Se realizó una evaluación previa y posterior a la capacitación. El análisis estadístico se realizó mediante pruebas t de Student y χ2, tomando como significativo un valor de p ≤ 0.05. RESULTADOS: Participaron 94 residentes. El 87.2% dijeron no conocer el protocolo radiológico de detección. En la evaluación preintervención, el 87.2% no tenían conocimiento del protocolo (p = 0.525). Se observó que el 98.9% trazaron de manera incorrecta la línea de Perkins (p = 0.427), el 96.8% la línea de Hilgenreiner (p = 0.177) y el 87.2% no consideraron los datos de displasia bilateral (p = 0.956). Posterior a la intervención educativa, el 87.2% trazaron de manera correcta la línea de Perkins (p = 0.926), el 97.8% la línea de Hilgenreiner (p = 0.325) y el 78.7% sí consideró los datos de displasia bilateral (p = 0.826). CONCLUSIONES: Tras la capacitación, el 80% de los médicos residentes de medicina familiar fueron capaces de detectar oportunamente la DDC.

Low-grade dysplasia in Barrett's esophagus: A problematic diagnosis / Displasia de bajo grado en el esófago de Barrett: un diagnóstico problemático

Although low-grade dysplasia (LGD) in Barrett's esophagus (BE) is a histopathological diagnosis based on different histological abnormalities, it is still problematic for different reasons. Patients without confirmed diagnosis of LGD undergo unnecessary and intensified follow-up where the risk of progression is low in the majority of cases. In contrast, the presence of confirmed LGD indicates a high risk of progression. In this article we try to address these reasons focusing on re-confirmation of LGD diagnosis, interobserver agreement, and persistent confirmed LGD. The progression risk of LGD to high-grade dysplasia and esophageal adenocarcinoma will also be reviewed. (AU)

Aunque la displasia de bajo grado (DBG) en el esófago de Barrett (EB) es un diagnóstico histopatológico basado en diferentes anomalías histológicas, este no deja de ser problemático por diferentes razones. Los pacientes sin diagnóstico confirmado de DBG se someten a un seguimiento innecesario e intensificado donde el riesgo de progresión es bajo en la mayoría de los casos. Por el contrario, la presencia de DBG confirmada indica un alto riesgo de progresión. En este artículo tratamos de abordar estas razones centrándonos en la reconfirmación del diagnóstico de la DBG, la concordancia entre observadores y la DBG confirmada y persistente. También se revisará el riesgo de progresión de la DBG a displasia de alto grado y adenocarcinoma esofágico. (AU)

Verma-Naumoff syndrome: a case report / Síndrome de Verma-Naumoff: a propósito de un caso

In skeletal dysplasias, there are short rib polydactyly syndromes, which traditionally differentiate into four lethal types. This report describes a case of Type III, which presented characteristics of Types I and II. A 38-year-old woman presented fetal growth restriction at 17 weeks and 6 days, decreased amniotic fluid, enlarged and hyperechogenic kidneys, and long bones below the 3rd percentile. Three weeks later, she developed anhydramnia. The couple did not consent to the performance of an invasive test for genetic diagnosis and chose to maintain the pregnancy. At 33 weeks, due to premature labor and interactivity, a cesarean section was performed, giving birth to a female baby, who died due to respiratory failure there were no vocal cords and no trachea visible at laryngoscopy. On physical examination, he had the phenotypic characteristics of the syndrome. An X-ray showed short ribs and severe pulmonary hypoplasia. After birth, the parents chose not to carry out a genetic study or an anatomical examination. Researchers have suggested that there is an intersection of the anatomical changes of the types. This case report supports this theory.

En las displasias esqueléticas, existen síndromes de polidactilia de costillas cortas, que tradicionalmente se diferencian en cuatro tipos letales. Este reporte describe un caso del tipo III, que presentó características de los tipos I y II. Mujer de 38 años con restricción del crecimiento fetal a las 17 semanas y 6 días, líquido amniótico disminuido, riñones agrandados e hiperecogénicos y huesos largos por debajo del percentil 3. Tres semanas después, desarrolló anhidramnia. La pareja no consintió en la realización de una prueba invasiva de diagnóstico genético y optó por mantener el embarazo. A las 33 semanas, debido al parto prematuro y la interactividad, se realizó una cesárea, dando a luz a un bebé, que murió debido a una insuficiencia respiratoria: no había cuerdas vocales ni tráquea visible en la laringoscopia. Al examen físico presentaba las características fenotípicas del síndrome. Una radiografía mostró costillas cortas e hipoplasia pulmonar severa. Después del nacimiento, los padres optaron por no realizar un estudio genético ni un examen anatómico. Los investigadores han sugerido que existe una intersección de los cambios anatómicos de los tipos. Este reporte de caso apoya esta teoría.

Análisis Morfológico y Biométrico de la Fóvea de la Cabeza del Fémur / Morphological and Biometric Analysis of the Fovea for Ligament of Head of Femur

En la literatura actual se encuentra escasa información referente a la fóvea de la cabeza del fémur (fóvea de la cabeza del hueso fémur). Este estudio tuvo como propósito recolectar datos morfológicos y biométricos respecto a la fóvea de la cabeza del fémur y reconocer variaciones que podrían ser de utilidad en las diversas patologías de la región. Se utilizaron 46 huesos fémures humanos pertenecientes al Departamento de Ciencias Básicas de la Universidad de La Frontera, Chile. Para la medición de datos se utilizó material ad hoc y los datos fueron analizados el programa Excel y los softwares ImageJ e Image Pro Plus. La longitud promedio de los huesos fémures fue de 43,8 ± 2,9 cm; el ángulo de torsión del cuello fue de 23,0 ± 2,0°. En el 100 % de las muestras se observó una fóvea en el cuadrante posteroinferior de la cabeza del fémur. El área promedio de la fóvea de la cabeza del fémur fue de 1,51 ± 0,7 cm2. El perímetro fue de 4,72 ± 1,0 cm; la forma de la fóvea fue: 60,9% ovalada, 23,9% triangular y 15,2 % circular, teniendo como base la fórmula derivada del índice craneal, dejando la fórmula como feret mínimo/feret máximo, con el cual los valores mayores a 0,8 se clasificaban como circulares y los menores como ovalados. Conocer la ubicación de la fóvea de la cabeza del fémur adquiere implicancia médica, ya que una fóvea en posición anormalmente alta, en imágenes radiológicas, es un indicador de displasia pélvica. La importancia de las variaciones de la fóvea de la cabeza del fémur debe ser más investigadas para una correcta comprensión de las patologías que afectan a la cabeza femoral.

SUMMARY: In the current literature there is little information regarding the fovea for ligament of head of femur. The aim of this study was to collect morphological and biometric data regarding the fovea for ligament of head of femur and recognize variations that could be useful in the various pathologies of the region. Forty six human femur bones belonging to the Department of Basic Sciences of the University of La Frontera, Chile were used. For data measurement, ad hoc material was used and the data were analyzed with the Excel program and the ImageJ and Image Pro Plus software. The average length of the femur bones was 43.8 ± 2.9 cm; the neck torsion angle was 23.0 ± 2.0°. In 100% of the samples, a fovea was observed in the posteroinferior quadrant of the head of femur. The average area of the fovea for ligament of head of femur was 1.51 ± 0.7 cm3. The perimeter was 4.72 ± 1.0 cm; The shape of the fovea was: 60.9% oval, 23.9% triangular and 15.2% circular, based on the formula derived from the cranial index, leaving the formula as minimum feret/maximum feret, with which the values greater than 0.8 were classified as circular and those less as oval. Knowing the location of the fovea for ligament of head of femur acquires medical implications, since a fovea in an abnormally high position, in radiological images, is an indicator of pelvic dysplasia. The importance of variations in the fovea for ligament of head of femur must be further investigated for a correct understanding of the pathologies that affect the femoral head.