Alopecia temporária após tratamento endovascular relacionada a uma malformação arteriovenosa em face: relato de caso / Temporary alopecia after endovascular treatment related to an arteriovenous malformation in the face: case report / Alopecia temporal posterior a tratamiento endovascular relacionado con malformación arteriovenosa en la cara: reporte de caso

Objetivo: relatar um caso de alopecia temporária após tratamento endovascular com exposição por fluoroscopia devido a uma malformação arteriovenosa na face. Detalhamento do caso: sexo masculino, 34 anos, com queixa de lesão na asa nasal, lábio superior e lateral da face (direita). O paciente trouxe exame de angioressonância apresentando uma malformação arteriovenosa em face com nutrição pela artéria facial e drenagem pela veia mandibular. Como tratamento foi optado uma arteriografia diagnóstica para melhor avaliação de vascularização da malformação arteriovenosa seguida de embolização com onyx® (mistura de etileno vinil álcool copolímero) que fornece o contraste necessário para a visibilização da mistura sob fluoroscopia. O procedimento foi realizado 14 dias após a 1ª consulta, sem intercorrências indicando sucesso terapêutico. No retorno, terceira semana após o procedimento, apresentou alopecia setorial em região occipitoparietal direita. Não havia manchas em região, bem como outros sintomas associados. Foi realizado como tratamento o uso de Minoxidil tópico e Cilostazol via oral. Após o tratamento houve retorno do crescimento espontâneo em cerca de 2 meses. Considerações finais: a embolização com onyx® mostrou-se uma valiosa opção terapêutica com uma maior conservação das estruturas nobres em malformações arteriovenosas, com baixa taxa de complicações no médio e longo prazo.

Objective: to report a case of temporary alopecia after endovascular treatment with fluoroscopy exposure due to an arteriovenous malformation on the face. Case detail: male, 34 years old, complaining of a lesion on the nasal wing, upper lip and side of the face (right). The patient brought an angioresonance exam showing an arteriovenous malformation in the face with nutrition through the facial artery and drainage through the mandibular vein. As a treatment, a diagnostic arteriography was chosen for a better assessment of the vascularity of the arteriovenous malformation followed by embolization with onyx® (mixture of ethylene vinyl alcohol copolymer), which provides the necessary contrast for visualization of the mixture under fluoroscopy. The procedure was performed 14 days after the 1st consultation, with no intercurrences indicating therapeutic success. On return, third week after the procedure, he presented sectoral alopecia in the right occipitoparietal region. There were no stains in the region, as well as other associated symptoms. The use of topical Minoxidil and oral Cilostazol was carried out as treatment. After treatment there was a return of spontaneous growth in about 2 months. Final considerations: embolization with onyx® proved to be a valuable therapeutic option with greater conservation of noble structures in arteriovenous malformations, with a low rate of complications in the medium and long term.

Objetivo: reportar un caso de alopecia transitoria posterior a tratamiento endovascular con exposición radioscópica debido a una malformación arteriovenosa en la cara. Detalle del caso: varón, 34 años, que se queja de una lesión en el ala nasal, labio superior y lado de la cara (derecha). El paciente trajo un examen de angiorresonancia que mostró una malformación arteriovenosa en la cara con nutrición a través de la arteria facial y drenaje a través de la vena mandibular. Como tratamiento se optó por una arteriografía diagnóstica para una mejor valoración de la vascularización de la malformación arteriovenosa seguida de embolización con onyx® (mezcla de copolímero de etileno alcohol vinílico), que proporciona el contraste necesario para la visualización de la mezcla bajo fluoroscopia. El procedimiento se realizó 14 días después de la 1.ª consulta, sin intercurrencias que indicaran éxito terapéutico. A su regreso, a la tercera semana del procedimiento, presenta alopecia sectorial en región occipitoparietal derecha. No había manchas en la región, así como otros síntomas asociados. Como tratamiento se realizó el uso de Minoxidil tópico y Cilostazol oral. Después del tratamiento hubo un retorno del crecimiento espontáneo en aproximadamente 2 meses. Consideraciones finales: la embolización con onyx® demostró ser una valiosa opción terapéutica con mayor conservación de las estructuras nobles en las malformaciones arteriovenosas, con una baja tasa de complicaciones a medio y largo plazo.

Efecto de la Vitamina E en Células Peritubulares de Testículos de Ratones Mus musculus Tratados con Ácido Valproico Durante el Estado Fetal y Pubertad / Effect of Vitamin E on Peritubular Cells from Testis of Mus musculus Mice Treated with Valproic Acid During the Fetal Stage and Puberty

El ácido valproico (VPA) es un fármaco antiepiléptico teratógenico que, al ser administrado durante etapas tempranas del embarazo, puede producir alteraciones en el desarrollo embriofetal, las que se manifiestan tanto a nivel del sistema nervioso como del testículo. No obstante, se ha reportado que la administración de vitamina E (VE) podría revertir dichas alteraciones. El objetivo del presente estudio fue determinar el efecto protector de la VE a nivel testicular en fetos y ratones púberes expuestos a VPA durante la fase embrionaria de su desarrollo. Se utilizó un total de 30 ratones hembra adultas gestantes (Mus musculus) cepa BALB/c, las cuales se dividieron en 6 grupos. El estudio contempló el análisis de fetos machos a los 17,5 días post-coital (dpc) y machos juveniles a las 6 semanas post-natal. A los grupos 1 y 4 se les administró 0,3 mL de solución fisiológica (grupos control para 17,5 dpc y 6 semanas postnatal, respectivamente). A los grupos 2 y 5 se les suministró la cantidad de 600 mg/kg de VPA (grupos VPA), en tanto que a los grupos 3 y 6 se les aplicó la misma dosis de VPA complementada con 200 UI de VE (grupos VPA+VE). Se describió la histología normal y patológica del compartimento peritubular del testículo. En los grupos VPA se evidenció una degeneración de la pared peritubular, y atrofia de túbulos seminíferos, así como exfoliación de las células germinales. Por el contrario, en los grupos VPA+VE tales signos no fueron observados y la morfología presentó aspecto normal solo con algunas alteraciones focales. Estos resultados corroboran el hecho que la administración de VE contrarresta en parte, los efectos deletéreos que ocasiona el VPA.

SUMMARY: Valproic acid (VPA) is a teratogenic antiepileptic drug that, when administered during the early stages of pregnancy, can produce alterations in embryo-fetal development, which manifest both at the level of the nervous system and the testicle. However, it has been reported that the administration of vitamin E (VE) could reverse these alterations. The study aimed to determine the protective effect of VE at the testicular level in fetuses and pubertal mice exposed to VPA during the embryonic phase of their development. 30 pregnant adult female mice (Mus musculus) BALB/c strain were used, which were divided into 6 groups. The study included the analysis of male fetuses at 17.5 days post-coital (dpc) and juvenile males at 6 weeks post-natal. Groups 1 and 4 were administered 0.3 mL of physiological solution. Groups 2 and 5 were given 600 mg/kg of VPA (VPA groups), while groups 3 and 6 were given the same dose of VPA supplemented with 200 IU of VE (VPA+VE). The normal and pathological histology of the peritubular compartment of the testis was described. In the VPA groups, degeneration of the peritubular wall, and atrophy of the seminiferous tubules, as well as exfoliation of the germ cells, were evident. On the contrary, in the VPA+VE groups such signs were not observed and the morphology presented a normal appearance with only some focal alterations. These results corroborate the fact that the administration of VE partially counteracts the deleterious effects caused by VPA.

Unusual Arteriovenous Malformation in Total Hip Arthroplasty: Case Report of a Complicated Perioperative Course / Malformação arteriovenosa incomum em artroplastia total do quadril: relato de caso de um perioperatório de curso complicado

Abstract It is not common to encounter arteriovenous malformations (AVMs) during total hip arthroplasty (THA). We report the present case to draw attention to the possibility of an AVM during the direct anterior approach (DAA) for THA, which, if not borne in mind, may lead to the myriad of complications related to excessive bleeding. An 81-year-old female presented to the emergency department with a left femoral neck fracture. She elected to undergo a THA via the DAA. Abnormal appearing blood vessels were present near the ascending circumflex branches, which provided difficulty in achieving hemostasis. Excessive blood loss was noted, and the patient received one unit of packed red blood cells during the operation. Hemoglobin and hematocrit dropped in the days following surgery, requiring several additional transfusions of blood products. When the patient complained of progressive left leg swelling on postoperative day 3, a computed tomography revealed large hematomas within the left adductors and the left iliopsoas muscle. Active extravasation was identified arising from a branch of the left profunda femoral artery, as well as an arteriovenous fistula (AVF) in this area. Bleeding was controlled by selective endovascular coil embolization. As of current knowledge, this is the first reported intraoperative discovery of congenital arteriovenous malformation (AVM) with subsequent development of postoperative arteriovenous fistula and associated symptomatic hematomas in the setting of THA using the DAA. Early recognition and intervention of vascular malformations is essential in preventing potential limb- or life-threatening surgical complication.

Resumo Não é comum encontrar malformações arteriovenosas (MAV) durante a artroplastia total do quadril (ATQ). Relatamos o presente caso para chamar a atenção para a possibilidade de uma MAV durante a abordagem anterior direta (AAD) para ATQ, que se não for considerada, pode levar a uma miríade de complicações relacionadas ao sangramento excessivo. Uma mulher de 81 anos foi apresentada ao pronto-socorro com fratura no pescoço do fêmur esquerdo. Ela optou por se submeter a uma artroplastia total do quadril (ATQ) através da AAD. Vasos sanguíneos aparentemente anormais estavam presentes perto dos ramos circunflexos ascendentes, proporcionando dificuldade em alcançar hemostasia. A perda excessiva de sangue foi notada e a paciente recebeu uma unidade de glóbulos vermelhos embalados durante a operação. Hemoglobina e hematócrito caíram nos dias seguintes à cirurgia, exigindo várias transfusões adicionais de produtos sanguíneos. Quando a paciente reclamou de inchaço progressivo na perna esquerda no terceiro dia pós-operatório, a tomografia computadorizada revelou hematomas grandes dentro dos adutores esquerdos e do músculo iliopsoas esquerdo. A extravasão ativa foi identificada a partir de um ramo da artéria femoral esquerda, bem como de uma fístula arteriovenosa (FAV) nesta área. O sangramento foi controlado por embolização seletiva da bobina endovascular. A partir do conhecimento atual, esta é a primeira descoberta intraoperatória relatada de MAC congênita com desenvolvimento subsequente de FAV pós-operatória e hematomas sintomáticos associados no cenário de ATQ utilizando a AAD. O reconhecimento precoce e a intervenção de malformações vasculares são essenciais para prevenir possíveis complicações cirúrgicas de membros ou de risco de vida.

Síndrome de Currarino incompleto. Presentación de un caso

El síndrome de Currarino es una enfermedad hereditaria y de baja incidencia, compuesta por una tríada: estenosis anal, malformación sacro coccígea y masa presacra. Puede cursar desapercibido hasta la adultez y generar subdiagnósticos. Se describe un paciente de 75 años, masculino, piel negra, de procedencia urbana y con antecedentes de hipertensión arterial, quien acudió al hospital por presentar hematuria, dolor en fosa lumbar izquierda y estreñimiento. Se realizaron estudios imagenológicos, como ultrasonido, tomografía de abdomen y resonancia magnética lumbosacra, los cuales condujeron al diagnóstico de tumor renal, síndrome de Currarino incompleto (dado por dos elementos de la triada: malformación sacro coccígea y masa presacra) asociado a otra enfermedad malformativa raquimedular, médula anclada. Son pocos los casos reportados en el mundo (casi 300), por lo que se considera una entidad rara, pero de fácil diagnóstico debido al advenimiento de las nuevas tecnologías en el campo de la imagenología.

Currarino syndrome is a hereditary disease with a low incidence, composed of a triad: anal stenosis, sacrococcygeal malformation and presacral mass. It can go unnoticed until adulthood and generate subdiagnoses. A 75-years-old male, black-skinned, urban origin patient with a history of arterial hypertension is described, who attended the hospital presenting hematuria, pain in the left lumbar fossa, and constipation. Radiological studies such as ultrasound, abdominal tomography and lumbosacral magnetic resonance were performed, which led to the diagnosis of a renal tumor, incomplete Currarino syndrome (given by two elements of the triad: sacrococcygeal malformation and presacral mass) associated with another spinal cord malformation disease, tethered cord. There are few cases reported in the world (almost 300), so it is considered a rare entity, but easy to diagnose due to new imaging technologies.

Congenital pulmonary malformations in children in a pediatric hospital in Peru, 2010-2020 / Malformaciones pulmonares congénitas en niños de un hospital pediátrico de Perú, 2010-2020

Abstract Background: Congenital pulmonary malformations (CPMs) are rare in children. This study aimed to describe the clinical, imaging characteristics, and treatment of patients with this pathology. Methods: We conducted a descriptive and retrospective study with data from patients with CPMs diagnosed at Instituto Nacional de Salud del Niño-Breña (Lima-Peru), from January 2010 to December 2020. We described CPM clinical and imaging characteristics, type and treatment. Results: The sample was formed of 70 patients. The median age was 29 months (range 15 days-14 years) and the male/female ratio was 1.4. The chest tomography found parenchymal involvement in 50 (71.4%) cases and mixed involvement (parenchymal and vascular) in 18 (25.7%) cases. Congenital malformation of the pulmonary airway was present in 39 (55.7%) cases, followed by bronchogenic cyst in 10 (14.3%), intralobar pulmonary sequestration in 9 (12.9%), and extralobar pulmonary sequestration in 7 (10%). Lobectomy was performed in 61 (87.1%) cases, cystectomy in 5 (7.1%), segmentectomy in 2 (2.9%), and embolization in 2 (2.9%). The most frequent post-operative complication was pneumonia, found in 9 (12.9%) cases. The median hospital stay was 26 days. No patient died during hospitalization. Conclusions: In our institution, the most frequent CPM was congenital malformation of the pulmonary airway, and lobectomy was the most frequently performed surgical procedure. CPMs represent a diverse group of disorders of lung development with varied imaging patterns and clinical manifestations.

Resumen Introducción: Las malformaciones pulmonares congénitas son poco frecuentes en niños. El objetivo de este estudio fue describir las características clínicas, imagenológicas y tratamiento de los pacientes con esta patología. Métodos: Se llevó a cabo un estudio descriptivo y retrospectivo con datos de los pacientes con malformaciones pulmonares congénitas diagnosticados en el Instituto Nacional de Salud del Niño-Breña (Lima-Perú) entre enero 2010 y diciembre 2020. Se describieron las características clínicas, imagenológicas, el tipo de malformación pulmonar congénita y el tratamiento. Resultados: La muestra fue de 70 pacientes. La mediana de edad fue 29 meses, la relación masculino/femenino fue 1.4. En la tomografía de tórax se encontró compromiso parenquimal en 50 (71.4%) casos, y compromiso mixto (parenquimal y vascular) en 18 (25.7%). La malformación congénita de la vía aérea pulmonar se observó en 39 (55.7%) casos, seguida del quiste broncogénico en 10 (14.3%), secuestro pulmonar intralobar en 9 (12.9%) y secuestro pulmonar extralobar en 7 (10%). La lobectomía fue realizada en 61 (87.1%) casos, la quistectomía en 5 (7.1%), segmentectomía en 2 (2.9%) y embolización en 2 (2.9%). La complicación posquirúrgica más frecuente fue la neumonía en 9 (12.9%) casos. La mediana de estancia hospitalaria fue de 26 días. Ningún paciente falleció durante la hospitalización. Conclusiones: En nuestra institución, la malformación pulmonar congénita más frecuente fue la malformación congénita de la vía aérea pulmonar, y la lobectomía el procedimiento quirúrgico más comúnmente realizado. Las malformaciones pulmonares congénitas representan un grupo diverso de trastornos del desarrollo pulmonar con variados patrones imagenológicos y manifestaciones clínicas.

Malformaciones müllerianas: actualización y revisión a propósito de casos clínicos, 2022 / Müllerian malformations: update and review of clinical cases, 2022

Las malformaciones müllerianas (MM) son un grupo de anomalías estructurales originadas por fallas de desarrollo de los conductos paramesonéfricos o de Müller durante las primeras 16 semanas de gestación. Un oportuno diagnóstico y una correcta clasificación permiten ofrecer el mejor manejo y diferenciar aquellas pacientes que requieren tratamiento quirúrgico. Se realizó una revisión de la literatura sobre MM en las bases de datos Epistemonikos, SciELO, Cochrane y PubMed. Se rescataron todas las pacientes ingresadas con diagnóstico de MM. En el año 2021, la American Society of Reproductive Medicine publicó un consenso en el que se estandarizó la nomenclatura, se amplió el espectro y se simplificó la clasificación. La clínica es variada, e incluye pacientes asintomáticas cuyo diagnóstico es un hallazgo por imágenes. Los mejores estudios imagenológicos son la resonancia magnética (RM) y la ultrasonografía 3D, dejando la histeroscopia y la laparoscopia (método de referencia) como procedimiento diagnóstico-terapéutico. Se presentan casos clínicos desarrollados durante el primer trimestre de 2022. Recomendamos la utilización sistemática de la RM para el diagnóstico de anomalías complejas u obstructivas del aparato genital. El tratamiento de estas patologías debe ser realizado por ginecólogos endoscopistas expertos, e incluye tratamiento médico y quirúrgico, el cual debe ser enfocado en cada paciente dependiendo del tipo de MM y de los deseos de fertilidad.

Müllerian malformations (MM) are a group of structural anomalies caused by developmental failure of the paramesonephric or Müllerian ducts during the first 16 weeks of gestation. Timely diagnosis and classification allow us to offer the best management and to differentiate those patients who require surgical treatment. Literature review on MM in Epistemonikos, SciELO, Cochrane and PubMed databases. All patients admitted with a diagnosis of MM were rescued. In 2021, the American Society of Reproductive Medicine publishes a consensus where it standardizes the nomenclature, broadens the spectrum, and simplifies the classification. The clinical picture is varied and includes asymptomatic patients whose diagnosis is an imaging finding. The best imaging studies are magnetic resonance imaging (MRI) and 3D ultrasonography, leaving hysteroscopy and laparoscopy (gold standard) as diagnostic therapeutic. Clinical cases developed during the first trimester 2022 are presented. We recommend the routine use of MRI for the diagnosis of complex and/or obstructive anomalies of the genital tract. The treatment of these pathologies should be performed by expert endoscopic gynecologists and include medical and surgical treatment, which should be focused on each patient, depending on the type of MM and fertility desires.

Efficacy of Embolization in Acquired Uterine Vascular Malformations: An Experience in Tertiary Care Centre in India / Eficácia da embolização em malformações vasculares uterinas adquiridas: uma experiência em centro de atendimento terciário na Índia

Abstract Objective: To determine the efficacy of Uterine Artery Embolization in patients with bleeding acquired uterine arteriovenous malformations (AVMs). Methods: A prospective review of all patients who underwent Uterine Artery Embolization at our institution between July 2015 and April 2022 was performed. 225 patients were diagnosed with a uterine vascular malformation on doppler and corresponding MRI imaging. All patients underwent transcatheter embolization of the uterine arteries. Embolic agents in the 375 procedures included Histoacryl glue only (n = 326), polyvinyl alcohol (PVA) particles and Histoacryl glue (n = 29), PVA particles (n = 5), Gelfoam (n = 5), coils (n = 4), PVA particles and coils (n = 3), Histoacryl glue and Gelfoam (n = 2), and Histoacryl glue and coils (n = 1). Results: A total of 375 embolization procedures were performed in 225 patients. 90 patients required repeat embolization for recurrence of bleeding. The technical success rate of embolization was 100%. The clinical success rate was 92%: bleeding was controlled in 222 of 225 patients and three patients underwent a hysterectomy. 60 of the 225 patients had uneventful intrauterine pregnancies carried to term. The 210 patients who underwent successful embolization had no recurrence of bleeding at a median follow-up of 53 months (range, 5-122 months) after treatment. 15 patients were eventually lost to follow-up. One minor complication (0.4%) of non-flow-limiting dissection of the internal iliac artery occurred. Conclusion: Uterine Artery Embolization is a safe, effective, minimally invasive method to treat uterine AVMs with long-term efficacy, which can provide the preservation of fertility.

Análise estratégica da atenção às malformações congênitas: proposta de abordagem para o desenho de linhas de cuidado / Strategic analysis of malformations congenital care: proposal of approach and development of care pathways

Resumo O trabalho apresenta uma proposta de agrupamento de casos para organização de serviços e linhas de cuidado. Trata-se de um estudo exploratório, no campo do planejamento e organização dos serviços de saúde, que utilizou como caminho metodológico a pesquisa documental e bibliográfica e a consulta a especialistas, por meio da técnica de grupo nominal. A partir da análise estratégica, foram identificados quatro grupos: MC menores; MC de abordagem cirúrgica tardia; MC de abordagem cirúrgica imediata; e MC incompatíveis com a vida. A proposição partiu da articulação dos conhecimentos da clínica, da epidemiologia e do planejamento em saúde para auxiliar no desenho e organização da atenção às malformações congênitas. A análise estratégica mostrou-se adequada e permitiu identificar grupos de casos que demandam um conjunto homogêneo de atividades assistenciais e o cuidado em serviços de saúde com perfil assistencial similar. Tal proposta pode contribuir também para o planejamento regional e a organização da rede de atenção a outros problemas e condições complexas de saúde que demandam a articulação de serviços especializados e de alta densidade tecnológica.

Abstract This paper aims at presenting a proposal for grouping cases for the organization of health services and care pathways. This is an exploratory study in the field of health services planning and management, which used, as its methodology, documentary and bibliographic research as well as interviews with specialists by using nominal group technique. From the strategic analysis, four groups were identified: smaller CM; CM with late surgical approach; CM with immediate surgical approach; and CM incompatible with life. The proposition started from the articulation of clinical, epidemiological and health planning knowledge to assist in the management and organization of congenital malformations care. The strategic analysis proved to be adequate and allowed us to identify case groups that demand a homogeneous set of care strategies and care in health services with a similar profile. This proposal can also contribute to regional planning and management of care for other complex health problems and conditions, which demand the articulation of specialized services and high technological density.

Actualización en anomalías vasculares de la órbita en pediatría: diagnóstico por imágenes y tratamiento / Update on orbital vascular anomalies in pediatrics: imaging studies and management

Las anomalías vasculares de la órbita (AVO) son un grupo heterogéneo de patologías que pueden presentarse con frecuencia en el cono orbitario, la región periorbitaria o dentro de la órbita misma. Las AVO se dividen en tumores y malformaciones. Su presentación clínica más frecuente es el exoftalmos, asociado o no a alteración del eje visual. Además, pueden presentar complicaciones agudas, como hemorragia intralesional o celulitis entre las más frecuentes, y complicaciones crónicas, como ambliopía y afectación de la agudeza visual a largo plazo. La evolución de las técnicas de imágenes, el uso de nuevos fármacos y la utilización de innovadores procedimientos en radiología intervencionista han posibilitado obtener una mejora significativa en los procesos diagnósticos y terapéuticos de estos pacientes, permitiendo un diagnóstico y tratamiento preciso.

Orbital vascular anomalies (OVAs) are a heterogeneous group of disorders frequently found in the orbital cone, the periorbital region, or within the orbit itself. OVAs are divided into tumors and malformations. The most frequent clinical presentation is exophthalmos, associated or not with an alteration of the visual axis. They may also cause acute complications, being intralesional bleeding or cellulitis the most frequent, and chronic complications, such as amblyopia and long-term visual acuity impairment. The development of imaging techniques, the use of new drugs, and the implementation of innovative procedures in interventional radiology have resulted in a significant improvement in the diagnostic and therapeutic approaches to these patients, essential to an accurate diagnosis and management.

Shunt portosistémico, una causa poco frecuente de hepatitis colestásica en neonatología. A propósito de un caso / Portosystemic shunt, a rare cause of neonatal cholestatic hepatitis. A case report

El shunt portosistémico congénito es una anomalía vascular venosa que comunica circulación portal y sistémica, por la que se deriva el flujo sanguíneo, salteando el paso hepático. Es una entidad poco frecuente, cuya incidencia varía entre 1/30 000 y 1/50 000 recién nacidos. Puede cursar de forma asintomática o presentarse con complicaciones en la edad pediátrica o, menos frecuente, en la edad neonatal. Ante el diagnóstico, se deberá definir la necesidad de intervención quirúrgica o intravascular para el cierre. Esta decisión depende de las características anatómicas de la malformación, de las manifestaciones clínicas y complicaciones presentes. Se presenta el caso de un paciente de un mes de vida derivado a nuestro centro para estudio de hepatitis colestásica neonatal, con diagnóstico de shunt portosistémico extrahepático. Se realizó cierre intravascular de la lesión con mejoría significativa posterior.

Congenital portosystemic shunt is a venous vascular abnormality that connects portal and systemic circulation, resulting in diversion of the blood flow, bypassing the hepatic passage. It is a rare malformation; its incidence varies from 1:30 000 to 1:50 000 newborns. It may be asymptomatic or present with complications in the pediatric age or, less frequently, in the neonatal age. Upon diagnosis, the need for a surgical or an intravascular intervention for closure should be defined. This decision depends on the malformation anatomical characteristics, clinical manifestations, and complications. We present the case of a 1-month-old patient referred to our center for the study of neonatal cholestatic hepatitis, with a diagnosis of extrahepatic portosystemic shunt. Intravascular closure of the defect was performed with significant subsequent improvement.

Study of Central Nervous System Malformations of Perinatal Autopsies

Background: Congenital malformations remain a common cause of perinatal deaths accounting for 10-15% in developing countries like India. They are the most severe disorders of the central nervous system. Although antenatal screening for congenital anomalies has been improved over the years, fetal autopsy remains the gold standard for the iden?fica?on and confirma?on of congenital malforma?ons. The present study emphasizes the importance of perinatal autopsy for understanding the cause of death and also conforma?on of the antenatal diagnosis of the spectrum of various congenital CNS malforma?ons. Methods: We studied 644 perinatal autopsies conducted in our hospital. The dura?on of the study was 5 years, from 1st August 2015 to 31st July 2020 that included all perinatal autopsies with gesta?onal age of 22 weeks to less than 7 days. Results: Out of 644 perinatal autopsies 125 cases (19.4%) had congenital anomalies, of which 62 cases (9.6%) showed CNS malforma?ons. The most common CNS anomalies encountered were anencephaly 14 cases (22.6%) followed by 10 cases (16.1%) each of spina bifida and meningocele, and 8 cases (12.9%) of meningomyelocele. In the present study, 6 (9.7%) cases of CNS malforma?ons were associated with known syndromes namely Edward syndrome, Potter’s syndrome, and KlippelFeil syndrome. Along with CNS in 21 (33.9%) cases we observed associated malforma?ons of other systems with 7 cases involving the musculoskeletal system, 3 cases involving the genitourinary system, and 5 (8.1%) cases showing mul?system involvement. Conclusion: Antenatal screening for congenital anomalies has been improved over the years. Even then fetal autopsy remains the gold standard for the iden?fica?on and confirma?on of congenital malforma?ons. Understanding this gives valuable informa?on that can be further helpful in the gene?c counseling of the parents.

Histological analysis of different types of port-wine stains to guide clinical decision making: A retrospective study

Background and objectives: Port-wine stains are defined as congenital benign vascular lesions. The treatment of port-wine stains remains a challenge, worldwide. This study aimed to analyze the histological characteristics in different types of port-wine stains and provide guidance for clinical decision-making. Methods and materials: Biopsies were from the hospital from 2015 to 2021. H&E staining, Immunofluorescence staining, Masson’s trichrome staining and Weigert staining were performed on the tissues. Results: A total of 35 port-wine stains patients were included in the study of four distinct types, namely red port-wine stains (11 cases), purple port-wine stains (seven cases), hypertrophic port-wine stains (nine cases) and nodular port-wine stains (eight cases). The mean vessel diameter of the different types was 38.7 ± 5.9 ?m, 93.5 ± 9.7 ?m, 155.6 ± 21.8 ?m and 155.6 ± 29.54 ?m, respectively. Mean vessel depth was 396.4 ± 31 ?m, 944.2 ± 105.4 ?m, 2,971 ± 161.3 ?m and 3,594 ± 364.6 ?m, respectively. The vessels in red port-wine stains, purple port-wine stains and hypertrophic port-wine stains were mainly composed of capillary and venous malformations, whereas those in nodular port-wine stains were venous or arteriovenous malformations. Limitation: The main limitation of the current study was the small number of patients. Conclusion: As the disease progresses, vessel diameters become larger, the vessel wall becomes thicker and vessels were found in a greater depth. A treatment plan should be scientifically formulated keeping in mind the histological characteristics of port-wine stains.

Bilateral Nevus of Ota with Phakomatosis pigmentovascularis treated with 1064 nm picosecond laser: A Case Report

Nevus of Ota is an uncommon dermal melanosis in the Indian subcontinent and is rarely associated with capillary malformations, classified as type II phakomatosis pigmentovascularis (PPV). It usually presents unilaterally as mottled, slate blue, or dark bro wn macules; bilateral presentation is only seen in a few cases. A 20 - year female presented to Dermatology OPD of a tertiary hospital with bilateral nevus of Ota involving the cheeks, temples, nose, forehead, and sclera of the eyes for one year. She also ha d a port wine stain on the right arm, forearm, back, bittock, and thigh since birth without any other systemic involvement. We treated nevus of Ota with six sessions of 1064 nm picosecond laser every month at 0.8 J/cm 2 with significant improvement in the appearance of the lesions and no adverse effects. This case highlights the importance of thoroughly examining pigmented lesions for additional cutaneous findings and the potential use of a 1064 nm picosecond laser to tr eat such lesions.

Hemangiolinfangioma mesentérico: reporte de un caso / Mesenteric hemangiolymphangioma: case report

El hemangiolinfangioma es un tipo muy raro de malformación del sistema vascular, caracterizado histológicamente por la presencia de vasos venosos y linfáticos dilatados quísticamente, cuyas células endoteliales de revestimiento son positivas para marcadores de inmunohistoquímica como CD31, CD34 y D2-40. El compromiso extenso retroperitoneal y del tracto gastrointestinal es infrecuente. Se presenta el caso de una paciente femenina de 24 años con antecedente de dolor pélvico crónico, con exacerbación de síntomas. El diagnóstico imagenológico mostró una masa retroperitoneal multiquística. Se hizo hemicolectomía derecha y resección de la masa, encontrándose que dicha lesión estaba íntimamente adherida al mesenterio con compromiso extenso del tracto gastrointestinal, y cuyo estudio histopatológico reveló un hemangiolinfangioma, con mejoría clínica posterior a la resección quirúrgica. Aportamos a la literatura mundial, la caracterización de los hallazgos clínicos, imagenológicos e histopatológicos de este tipo de malformaciones

Hemangiolymphangioma is a very rare type of malformation of the vascular system, characterized histologically by the presence of cystically dilated venous and lymphatic vessels, whose lining endothelial cells are positive for immunohistochemical markers such as CD31, CD34 and D2-40. Extensive retroperitoneal and gastrointestinal tract involvement is uncommon. We present the case of a 24-yearold female patient with a history of chronic pelvic pain with exacerbation of symptoms. The imaging diagnosis revealed a multicystic retroperitoneal mass. A right hemicolectomy and resection of the mass was performed, finding that the lesion was intimately adherent to the mesentery with extensive involvement of the gastrointestinal tract, and whose histopathological study revealed a hemangiolymphangioma, with clinical improvement after surgical resection. We contribute to the world literature with the characterization of the clinical, imaging and histopathological findings of this type of malformations

Embolização percutânea de fístulas arteriovenosas pulmonares / Percutaneous embolization of pulmonary arteriovenous fistulas

Malformações arteriovenosas pulmonares são uma comunicação anormal entre uma artéria e uma veia, causando manifestações clínicas, como hipoxemia crônica e eventos embólicos. As malformações arteriovenosas eram tratadas cirurgicamente, com taxa expressiva de complicações. Na década de 1970, a primeira embolização percutânea por cateter foi realizada com molas. Descrevemos três casos nos quais técnicas de embolização percutânea foram efetivas em prevenir eventos embólicos, hemorrágicos e hipoxêmicos no seguimento dos pacientes.

Pulmonary arteriovenous malformation is an abnormal communication between an artery and a vein, causing clinical manifestations, such as chronic hypoxemia and embolic events. Arteriovenous malformations were treated surgically, with a significant rate of complications. In the 1970 ́s, the first percutaneous catheter embolization was performed with coils. We describe three cases in which percutaneous embolization techniques were effective to prevent embolic, hemorrhagic, and hypoxemic events in the follow-up of patients.

Prevalencia de patologías fetales que pueden beneficiarse de intervenciones intrauterinas en un hospital de tercer nivel del Occidente de México / Prevalence of fetal pathologies that can benefit from intrauterine interventions in a third level hospital in western Mexico

Resumen OBJETIVO: Determinar la prevalencia de afecciones susceptibles de ser tratadas mediante un procedimiento intrauterino en una unidad de Medicina Materno Fetal de un hospital de tercer nivel del Occidente de México, en un periodo de nueve años. MATERIALES Y MÉTODOS: Estudio transversal y descriptivo, con revisión de los reportes de ultrasonidos obstétricos practicados en la Unidad de Medicina Materno Fetal del Hospital Civil de Guadalajara Dr. Juan I. Menchaca del 2013 al 2021, con selección de los casos de pacientes con diagnóstico de alguna afectación susceptible de ser intervenida de manera intrauterina. RESULTADOS: Durante el periodo de estudio se practicaron y registraron 103,721 ultrasonidos obstétricos, de éstos se integraron al estudio aquí publicado 257 pacientes con diagnóstico de alguna afectación susceptible de ser intervenida in útero. La prevalencia de afectaciones con posibilidad de ser intervenidas por vía intrauterina fue del 0.47% de la totalidad de pacientes valoradas. La media de edad de las pacientes fue de 24.6 años; 162 (63%) multigestas y 95 (37%) primigestas. Embarazos únicos 193 (75%) y 64 (25%) múltiples. Las semanas promedio de gestación al diagnóstico de la afectación fueron 25.6. CONCLUSIONES: En este ensayo se estimó una prevalencia de 0.47 padecimientos que pueden ser intervenidos in útero, dejando de lado muchas otros en los que los estudios no han demostrado beneficio de una cirugía fetal, ni los beneficios superan los riesgos, si se practica la cirugía de manera prenatal o posnatal.

Abstract OBJECTIVE: To determine the prevalence of conditions amenable to treatment by an intrauterine procedure in a Maternal-Fetal Medicine unit of a tertiary hospital in western Mexico over a nine-year period. MATERIALS AND METHODS: Cross-sectional and descriptive study, with review of obstetric ultrasound reports performed in the Maternal-Fetal Medicine Unit of the Civil Hospital of Guadalajara Dr. Juan I. Menchaca from 2013 to 2021, with selection of cases of patients diagnosed with any condition susceptible to intrauterine intervention. RESULTS: During the study period 103,721 obstetric ultrasounds were performed and recorded, of which 257 patients were included in the study published here with a diagnosis of a condition that could be treated in utero. The prevalence of conditions that could be treated in utero was 0.47% of all patients assessed. The mean age of the patients was 24.6 years; 162 (63%) were multigestational and 95 (37%) primigravid. Singleton pregnancies 193 (75%) and 64 (25%) multiple pregnancies. Mean weeks of gestation at diagnosis of involvement was 25.6. CONCLUSIONS: This trial estimated a prevalence of 0.47% of conditions that can be intervened in utero, leaving aside many others where studies have not demonstrated benefit of fetal surgery, nor do the benefits outweigh the risks, whether surgery is performed prenatally or postnatally.

Vigilancia epidemiológica de defectos congénitos en Granma

Introducción: el Registro Cubano De malformaciones Congénitas (RECUMAC), es un programa de atención y vigilancia clínico-epidemiológico de las anomalías congénitas, el cual fue implementado en nuestro país en el año 1985, tiene un diseño de tipo caso-control, de base hospitalaria y alcance nacional, recogiendo información sobre la madre y el recién nacido, los productos de las terminaciones voluntarias de embarazo (TVE), así como factores ambientales y genéticos de interés. Objetivo: determinar la prevalencia al nacer y la frecuencia ajustada de defectos congénitos mayores. Métodos: se realizó un estudio observacional, descriptivo y transversal, que implicó a los recién nacidos con defectos congénitos mayores de la provincia Granma en el período 2011-2018. Se calculó la prevalencia al nacer, la frecuencia ajustada y la tendencia de ambos, del total de los defectos estudiados para cada año, en cada municipio. Resultados: las frecuencias ajustadas de malformaciones congénitas se mantienen entre 14,4 y 15x1000 NV, excepto en los años 2012 y 2014 en que se elevó a 20 x1000 NV, los municipios Jiguaní, Yara, Bayamo, Cauto Cristo, Niquero y Buey Arriba fueron los de mayor frecuencia de anomalías congénitas, superando la media provincial, con frecuencias entre 16,13 y 23,2x1000 NV, el sistema de órganos con mayor FA de malformaciones congénitas fue el cardiovascular con 3,74x1000 NV, y según sistema de vigilancia internacional fue la hidrocefalia la malformación más frecuente con 0,92x1000 NV y 92% de TVE. Conclusiones: Las mayores tasas de malformaciones congénitas pertenecen en primer lugar al sistema cardiovascular seguidas del sistema genitourinario y el soma. El síndrome Down, la hidrocefalia, la Gastrosquisis, la Hipospadia y el labio leporino son las cinco malformaciones congénitas más frecuentes en nuestra provincia.

Introduction: the Cuban Registry of Congenital Malformations (RECUMAC), is a program of care and clinical-epidemiological surveillance of congenital anomalies, which was implemented in our country in 1985, has a case-control design, hospital-based and national scope, collecting information on the mother and newborn, the products of voluntary terminations of pregnancy (TVE), as well as environmental and genetic factors of interest. Objective: to determine the prevalence at birth and adjusted frequency of major birth defects. Methods: an observational, descriptive and cross-sectional study was conducted involving newborns with major congenital defects in Granma province in the period 2011-2018. The prevalence at birth, the adjusted frequency and the trend of both, of the total of the defects studied for each year, in each municipality were calculated. Results: the adjusted frequencies of congenital malformations remain between 14.4 and 15x1000 NV, except in the years 2012 and 2014 when it rose to 20 x1000 NV, the municipalities Jiguaní, Yara, Bayamo, Cauto Cristo, Niquero and Buey Arriba were the ones with the highest frequency of congenital anomalies, exceeding the provincial average, with frequencies between 16.13 and 23.2x1000 NV, the organ system with the highest AF of congenital malformations was the cardiovascular one with 3.74x1000 NV, and according to the international surveillance system, hydrocephalus was the most frequent malformation with 0.92x1000 NV and 92% of TVE. Conclusions: The highest rates of congenital malformations belong first to the cardiovascular system followed by the genitourinary system and the soma. Down syndrome, hydrocephalus, gastroschisis, hypospadia and cleft lip are the five most frequent congenital malformations in our province.

Introdução: o Registro Cubano de Malformações Congênitas (RECUMAC), é um programa de assistência e vigilância clínico-epidemiológica das anomalias congênitas, que foi implantado em nosso país em 1985, possui delineamento caso-controle, de âmbito hospitalar e nacional, coletando informações sobre a mãe e o recém-nascido, produtos de interrupções voluntárias da gravidez (TVE), bem como fatores ambientais e genéticos de interesse. Objetivo: determinar a prevalência ao nascer e a frequência ajustada dos principais defeitos congênitos. Métodos: foi realizado um estudo observacional, descritivo e transversal envolvendo recém-nascidos com defeitos congênitos maiores na província de Granma no período de 2011 a 2018. Foram calculadas a prevalência ao nascer, a frequência ajustada e a tendência de ambas, do total de defeitos estudados para cada ano, em cada município. Resultados: as frequências ajustadas de malformações congênitas permanecem entre 14,4 e 15x1000 NV, exceto nos anos de 2012 e 2014 quando subiu para 20 x1000 NV, os municípios de Jiguaní, Yara, Bayamo, Cauto Cristo, Niquero e Buey Arriba foram os que apresentaram maior frequência de anomalias congênitas, superando a média provincial, com frequências entre 16,13 e 23,2x1000 NV, o sistema orgânico com maior FA de malformações congênitas foi o cardiovascular com 3,74x1000 NV e, de acordo com o sistema de vigilância internacional, a hidrocefalia foi a malformação mais frequente com 0,92x1000 NV e 92% de TVE. Conclusões: As maior estaxas de malformações congênitas pertencem primeiro ao sistema cardiovascular, seguido pelo aparelho geniturinário e pelo soma. Síndrome de Down, hidrocefalia, gastrosquise, hipospádia e fenda labial são as cinco malformações congênitas mais frequentes em nossa província.

The efficacy of bleomycin sclerotherapy in the treatment of lymphatic malformations: a review and meta-analysis

Abstract Objective At present, bleomycin has been widely used in the treatment of Lymphatic Malformations (LMs). This study aims to perform a meta-analysis to investigate the effectiveness and influencing factors of bleomycin in the treatment of LMs. Methods We conducted a systematic review and meta-analysis to clarify the relationship between bleomycin and LMs. PubMed, ISI Web of Science and MEDLINE were searched. Results A total of 21 studies (including 428 cases) about bleomycin sclerotherapy for LMs were included in the current meta-analyses. We calculated pooled effective rate and 95% Confidence Interval (95% CI) using random effects model to evaluate the relations between bleomycin and LMs. The results suggested that the effective rate of bleomycin was the combined effective rate was 84.0% (95% CI 0.81‒0.87) and ranged from 39% (95% CI 0.22‒0.56) to 94% (95% CI 0.87-1.02). The heterogeneity among the studies was substantial (I2 = 61.7%, p = 0.000). In subgroup analyses, it was observed that among retrospective study and prospective study, the estimated effective rate was 80.0% (95% CI 0.76‒0.84) and 91.0% (95% CI 0.85‒0.97), respectively. In terms of the dosage, the combined effective rates of weight-based group and fixed-dose group were 86% (95% CI 0.83‒0.90) and 74.0% (95% CI 0.66‒0.82), respectively. There was no significant publication bias in Egger's test (p = 0.059, 95% CI −3.81 to 0.082), but Begg's test did (p = 0.023), and the funnel plot is asymmetric. Conclusion Our study suggested that bleomycin was safe and effective in the treatment of LMs and was primarily dose dependent.

Síndrome de regresión caudal en diabetes materna: reporte de caso / Caudal regression syndrome in maternal diabetes: case report

Resumen ANTECEDENTES: La diabetes mellitus sigue siendo una enfermedad de gran prevalencia mundial; en México alcanza el 13.7% y, de este porcentaje, el 30% ignora que la padece. Esta circunstancia se ha asociado con complicaciones durante el embarazo: malformaciones congénitas por hiperglucemia en el primer trimestre del embarazo y el síndrome de regresión caudal, entre otras. A pesar de los avances en el diagnóstico y tratamiento de esta enfermedad metabólica, estas alteraciones siguen provocando discapacidad, de ahí la importancia de su identificación temprana en el embarazo. CASO CLÍNICO: Paciente de 35 años, primigesta, con diagnóstico de diabetes tipo 2 establecido en el primer trimestre del embarazo, con hemoglobina glucosilada de 7.6%. En el ultrasonido estructural se observaron datos compatibles con el síndrome de regresión caudal y alteraciones severas en las extremidades. Al nacimiento, a las 18 semanas, se confirmó la luxación importante de las extremidades inferiores. CONCLUSIÓN: En la primera consulta prenatal debe practicarse el tamizaje para diabetes, sobre todo en pacientes con alto riesgo. Luego del diagnóstico son importantes los ultrasonidos de segundo nivel para detectar anomalías. La educación a la paciente es decisiva para el adecuado control metabólico y prevención de complicaciones durante el embarazo.

Abstract BACKGROUND: Diabetes mellitus continues to be a disease of high prevalence worldwide; in Mexico it reaches 13.7% and, of this percentage, 30% are unaware that they suffer from it. This circumstance has been associated with complications during pregnancy: congenital malformations due to hyperglycaemia in the first trimester of pregnancy and caudal regression syndrome, among others. Despite advances in the diagnosis and treatment of this metabolic disease, these alterations continue to cause disability, hence the importance of early identification in pregnancy. CLINICAL CASE: 35-year-old primigravida patient with a diagnosis of type 2 diabetes established in the first trimester of pregnancy, with a glycosylated haemoglobin of 7.6%. Structural ultrasound showed data compatible with caudal regression syndrome and severe alterations in the extremities. At birth, at 18 weeks, severe dislocation of the lower extremities was confirmed. CONCLUSION: Screening for diabetes should be performed at the first prenatal visit, especially in high-risk patients. After diagnosis, second level ultrasound is important to detect abnormalities. Patient education is crucial for adequate metabolic control and prevention of complications during pregnancy.

A Brazilian case of IFAP syndrome with severe congenital ichthyosis and limb malformations caused by a rare variant in MBTPS2 / Um caso brasileiro de síndrome IFAP com ictiose congênita grave e malformações de membros causadas por uma variante rara em MBTPS2

Abstract Objective: The classic triad, which defines IFAP syndrome, is ichthyosis follicularis, alopecia, and photophobia. It is a rare X-linked genetic disorder characterized by multiple congenital anomalies with variable severity, caused by pathogenic variants in the MBTPS2 gene, which encodes a zinc metalloprotease that is essential for normal development. This study aimed to report a case of a Brazilian patient with IFAP syndrome presenting skeletal anomalies, which is a rare finding among patients from different families. Case description: We describe a male proband with IFAP syndrome showing severe ichthyosis congenita, cryptorchidism, limb malformation, and comprising the BRESHECK syndrome features. Using whole-exome sequencing, we identified a rare missense variant in hemizygosity in the MBTPS2 gene, which had not been identified in other family members. Comments: This is the first diagnosis of IFAP syndrome in Brazil with a molecular investigation. The present case study thus expands our knowledge on the mutational spectrum of MBPTS2 associated with IFAP syndrome.

RESUMO Objetivo: A clássica tríade de ictiose folicular, alopecia e fotofobia dá nome a uma síndrome rara de origem genética com herança ligada ao cromossomo X (síndrome IFAP, do inglês Ichthyosis Follicularis, Alopecia, and Photophobia). Esta é uma síndrome caracterizada por múltiplas anomalias congênitas de expressividade variável, causada por variantes patogênicas no gene MBTPS2, que codifica uma zinco-metaloprotease essencial para o desenvolvimento normal humano. O objetivo deste estudo é apresentar o relato de caso de um paciente brasileiro com síndrome IFAP que apresentou anomalias esqueléticas, um achado raro entre os pacientes de diferentes famílias. Descrição do caso: Apresentamos um probando do sexo masculino com síndrome IFAP, com ictiose congênita grave, criptorquidia, malformação de membros e as características da síndrome de BRESHECK. Por meio do sequenciamento do exoma completo, identificamos uma variante rara do tipo missense, em hemizigose, no gene MBTPS2, não identificada em outros membros da família. Comentários: Este é o primeiro diagnóstico de síndrome IFAP no Brasil com investigação molecular. A análise molecular e a descrição de uma variante rara no gene MBPTS2 expandem nosso conhecimento sobre o espectro mutacional desse gene associado à síndrome IFAP.