Perinatal Outcomes after Fetal Endoscopic Tracheal Occlusion for Isolated Congenital Diaphragmatic Hernia: Rapid Review / Resultados perinatais após oclusão traqueal endoscópica fetal por hérnia diafragmática congênita isolada: Revisão rápida

Abstract Objective To compare the perinatal outcomes of fetuses with isolated congenital diaphragmatic hernia after fetal endoscopic tracheal occlusion (FETO) and antenatal expectant management. Data sources In this rapid review, searches were conducted in the MEDLINE, PMC, EMBASE and CENTRAL databases between August 10th and September 4th, 2020. Randomized controlled trials (RCTs), quasi-RCTs or cluster-RCTs published in English in the past ten years were included. Study selection We retrieved 203 publications; 180 studies were screened by abstract. Full-text selection was performed for eight studies, and 1 single center RCTmet the inclusion criteria (41 randomized women; 20 in the FETO group, and 21 in the control group). Data collection Data collection was performed independently, by both authors, in two steps (title and abstract and full-text reading). Data synthesis There were no cases of maternal mortality. The mean gestational age at delivery was of 35.6±2.4 weeks in the intervention group, and of 37.4±1.9 weeks among the controls (p<0.01). Survival until 6 months of age was reported in 50% of the intervention group, and in 5.8% of the controls (p<0.01; relative risk: 10.5; 95% confidence interval [95%CI]: 1.5-74.7). Severe postnatal pulmonary hypertension was found in 50% of the infants in the intervention group, and in 85.7% of controls (p=0.02; relative risk: 0.6; 95%CI: 0.4-0.9). An analysis of the study indicated some concerns of risk of bias. The quality of evidence was considered moderate to low. Conclusion Current evidence is limited but suggests that FETO may be an effective intervention to improve perinatal outcomes.

Resumo Objetivo Comparar os resultados perinatais de fetos com hérnia diafragmática congênita após oclusão traqueal endoscópica fetal (OTEF) e conduta expectante pré-natal. Fontes dos dados Nesta revisão rápida, pesquisas foram conduzidas nas bases de dados MEDLINE, PMC, EMBASE e CENTRAL entre 10 de agosto de 2020 e 4 de setembro de 2020. Ensaios clínicos randomizados (ECRs), quase-ECRs e ECRs em cluster publicados em inglês nos últimos dez anos foram incluídos. Seleção dos estudos Foram recuperadas 203 publicações; 180 destas foram triadas pelo resumo. Fez-se a leitura do texto completo de 8 estudos, e 1 ECR cumpriu os critérios de inclusão (41 mulheres aleatorizadas; 20 no grupo OTEF e 21 no grupo de controle). Coleta de dados A coleta de dados realizada independentemente pelos dois autores, em duas etapas (título e resumo, e leitura do texto completo). Síntese dos dados Não houve casos de mortematerna. A idade gestacionalmédia no parto foi de 35,6±2,4 semanas no grupo de intervenção, e de 37,4±1,9 semanas entre os controles (p<0,01). A sobrevida até 6 meses de idade foi relatada em 50% do grupo de intervenção, e em 5,8% dos controles (p<0,01; risco relativo: 10,5; intervalo de confiança de 95% [IC95%]: 1,5-74,7). Hipertensão pulmonar grave ocorreu em 50% dos lactentes do grupo de intervenção, e em 85,7% dos controles (p = 0.02; risco relativo: 0,6; IC95%: 0,4-0,9). Uma análise do estudo indicou algumas preocupações quanto ao risco de viés. A qualidade da evidência foi considerada de moderada a baixa. Conclusão As evidências atuais são limitadas,mas sugeremque a OTEF pode ser uma intervenção eficaz para melhorar resultados perinatais.

Características clínicas y radiológicas de las malformaciones pulmonares congénitas: reporte de cuatro casos en un centro de tercer nivel de la ciudad de México / Clinical and radiological characteristics of congenital lung malformations: report of four cases in a third - level center in Mexico city

Las malformaciones pulmonares congénitas (MPC) conforman un grupo de entidades originadas por alteraciones en la embriogénesis del pulmón y de las vías respiratorias que se producen de acuerdo al nivel del árbol traqueobronquial donde se dé el insulto o el momento de la edad gestacional. Las entidades que en la actualidad forman parte de las MPC son: malformación congénita de la vía aérea, secuestro pulmonar, quiste broncogénico, enfisema lobar congénito, atresia bronquial. Su diagnóstico puede realizarse desde la etapa prenatal, al momento del nacimiento, en la edad pediátrica o adulta por la aparición de síntomas o incidentalmente en pruebas radiológicas. El manejo de estas lesiones depende del tipo de malformación y de la severidad de los síntomas, por lo que se debe individualizar la conducta a seguir en cada caso. Aunque la mayoría de los autores recomienda la resección de la lesión, no existe en la actualidad un consenso sobre la indicación de cirugía, sobre todo en pacientes asintomáticos. Nuestro objetivo es describir los hallazgos clínicos, radiológicos y en algunos casos anatomopatológicos así como el tratamiento empleado de cuatro casos clínicos, atendidos en un hospital de tercer nivel que ejemplifican las presentaciones más frecuentes de las MPC.

Congenital pulmonary malformations (CPM) make up a group of entities caused by alterations in the embryogenesis of the lung and the respiratory tract that occur according to the level of the tracheobronchial tree where the insult occurs or the moment of gestational age. The entities that are currently part of the CPM are: congenital malformation of the airway, pulmonary sequestration, bronchogenic cyst, congenital lobar emphysema, bronchial atresia. Its diagnosis can be made from the prenatal stage, at birth or in pediatric or adult age due to the appearance of symptoms or incidentally in radiological tests. The management of these injuries depends on the type of malformation and the severity of the symptoms, so the conduct to be followed in each case must be individualized. Although most authors recommend resection of the lesion, there is currently no consensus on the indication for surgery, especially in asymptomatic patients. Our objective is to describe the clinical, radiological and in some cases histopathological findings, as well as the treatment used in four clinical cases, treated in a tertiary level hospital that exemplify the most frequent presentations of MPC.

Development of fluorescent- and radio-traceable T1307-polymeric micelles as biomedical agents for cancer diagnosis: biodistribution on 4T1 tumor-bearing mice

Abstract In recent years, nanocarriers have been studied as promising pharmaceutical tools for controlled drug-delivery, treatment-efficacy follow-up and disease imaging. Among them, X-shaped amphiphilic polymeric micelles (Tetronic®, poloxamines) display great potential due to their biocompatibility and non-toxic effects, among others. In the present work, polymeric micelles based on the T1307 copolymer were initially decorated with a 4,4-difluoro-4-bora-3a,4a-diaza-s-indacene (BODIPY)-fluorophore in order to determinate its in vivo biodistribution on 4T1 tumor-bearing mice. However, unfavorable results with this probe led to two different strategies. On the one hand, the BODIPY-micelle-loaded, L-T1307-BODIPY, and on the other hand, the 99mTc-micelle-radiolabeled, L-T1307- 99m Tc, were analyzed separately in vivo. The results indicated that T1307 accumulates mainly in the stomach, the kidneys, the lungs and the tumor, reaching the maximum organ-accumulation 2 hours after intravenous injection. Additionally, and according to the results obtained for L-T1307- 99m Tc, the capture of the polymeric micelles in organs could be observed up to 24 hours after injection. The results obtained in this work were promising towards the development of new radiotracer agents for breast cancer based on X-shaped polymeric micelles.

Actualización y controversias en el tratamiento de las malformaciones congénitas de la vía aérea pulmonar / Update and disagreements in the treatment of congenital pulmonary airway malformations

Congenital pulmonary airway malformations (CPAM) are rare and occur due to a failure in lung embryological development. They are classified according to their pathological characteristics and their anatomical origin. They can occur from the antenatal period to adulthood, can be associated with hydrops fetalis, respiratory distress, recurrent infections, or in an otherwise asymptomatic patient. In this article we carry out a scope review of the literature to answer frequent questions of the clinical teams in charge of patients with CPAM, such as the antenatal approach, the different types of surgeries and the management of asymptomatic patients. Although the indication for surgery is clear in symptomatic patients, little is known about its natural history of this condition, including the possibility of spontaneous resolution and the development of complications or neoplasm. So, the treatment of asymptomatic patients continues to be controversial. Therapeutic decisions must be made by multidisciplinary teams with the informed participation of parents and patients. In our opinion, considering the excellent results of minimally invasive surgery, its low incidence of complications, and practically zero mortality when performed by experienced groups, it seems reasonable to consider elective resection of a MCVAP in asymptomatic patients.

Las malformaciones congénitas de la vía aérea pulmonar (MCVAP) son infrecuentes y ocurren debido a una falla en el desarrollo embriológico pulmonar. Se clasifican de acuerdo con sus características patológicas y a su origen anatómico. Se pueden presentar desde el periodo antenatal hasta la adultez, asociarse a cuadros de hidrops fetal, distrés respiratorio, infecciones recurrentes, o como un hallazgo en pacientes asintomáticos. En este artículo realizamos una revisión bibliográfica exploratoria para responder dudas frecuentes de los equipos clínicos a cargo de pacientes con MCVAP, como el enfrentamiento antenatal, los distintos tipos de cirugía y su abordaje, y el manejo de pacientes asintomáticos. Si bien la indicación de cirugía es clara en pacientes sintomáticos, poco se conoce acerca de su historia natural, incluyendo la posibilidad de resolverse de forma espontánea, de complicarse o de evolucionar hacia el desarrollo de una neoplasia, por lo que el tratamiento de pacientes asintomáticos continúa siendo controversial. Las decisiones terapéuticas deben ser tomadas por equipos multidisciplinarios con la participación informada de los padres y de los pacientes. En nuestra opinión, considerando los excelentes resultados de la cirugía mínimamente invasiva, su baja incidencia de complicaciones y prácticamente nula mortalidad, al ser realizada por grupos con experiencia, nos parece razonable plantear la resección electiva de una MCVAP en un paciente asintomático.

Assessment of fetal lung maturity using analysis of amniotic fluid from ewes that gave birth prematurely and at term / Avaliação da maturidade pulmonar fetal utilizando a análise de líquido amniótico de ovelhas que deram à luz prematuramente e a termo

The aim of this study was to evaluate the lung maturity of premature and full-term lambs by analyzing amniotic fluid using the following methods: Clements test, Nile blue cytology test, hematoxylin-Shorr stain, lamellar body count, and radiographic tests. The use of these methods is intended to identify high-risk newborns and provide immediate clinical intervention after birth. Altogether, 56 animals (24 ewes and 32 lambs) were included in the study and divided into 3 groups. Group I consisted of 8 ewes that were at approximately 145 days of gestation; this group delivered 10 lambs naturally. Group II consisted of 8 ewes that were at 138 days' gestation; this group delivered 11 lambs by cesarean section. Group III consisted of 8 ewes at 138 days' gestation; this group was administered intramuscular dexamethasone (16mg/animal) 36 hours prior to a cesarean section. Group III delivered11 lambs. Cytological tests were performed using a microscope with a maximum magnification of 1000x, while the Clements test was visually observed by one of the researchers. Amnioticfluid lamellar body counts were measured using transmission electron microscopy. Among the staining methods, hematoxylin-Shorr was reliable, and Group III had a greater number of orangeophilic cells when compared to Group II, probably due to corticoid administration. The Clements test showed pulmonary maturity in approximately 20% of Group I lambs and Group II showed 9.1% of bubbles; however, Group III had the highest pulmonary maturity percentage (36.4%). The lamellar bodies were measured, and all groups had sizes between 0.019 and 0.590μm. Radiographic evaluation revealed that the majority of lambs presented some level of pulmonary radiodensity, indicating an acinar pattern at birth. These results are in line with the expectations of each group. We found that the normal group showed greater pulmonary maturity, whereas Group II presented pulmonary immaturity, which is expected because this group comprised lambs born prematurely and Group III showed pulmonary maturity almost comparable to the normal delivery group (Group I). This is due to the fact that although these animals are premature, the use of dexamethasone helped in pulmonary maturation. Therefore, these pulmonary maturity tests are considered effective when more than one technique is used and can be used routinely in the care of a pregnant ewe in labor, where a simple collection of amniotic fluid can predict a high-risk pregnancy and alert the veterinarian if the newborn needs intensive supportive treatment.(AU)

O objetivo deste estudo foi avaliar a maturidade pulmonar de cordeiros prematuros e a termo por meio da análise do líquido amniótico utilizando os seguintes métodos: teste de Clements, teste de citologia do azul do Nilo, coloração de hematoxilina-Shorr, contagem de corpos lamelares e testes radiográficos. Um desses métodos tem por objetivo identificar recém-nascidos de alto risco e fornecer intervenção clínica imediata após o nascimento. Ao todo, 56 animais (24 ovelhas e 32 cordeiros) foram incluídos no estudo e divididos em 3 grupos. O grupo I foi composto por 8 ovelhas com aproximadamente 145 dias de gestação; este grupo deu à luz 10 cordeiros naturalmente. O Grupo II foi composto por 8 ovelhas com 138 dias de gestação; este grupo deu à luz 11 cordeiros por cesariana. Grupo III consistiu de 8 ovelhas com 138 dias de gestação; este grupo recebeu dexametasona intramuscular (16 mg / animal) 36 horas antes de uma cesariana. O Grupo III entregou 11 cordeiros. Os testes citológicos foram realizados em microscópio com aumento máximo de 1000x, enquanto o teste de Clements foi observado visualmente por um dos pesquisadores. A contagem de corpos lamelares de líquido amniótico foi medida usando microscopia eletrônica de transmissão. Dentre os métodos de coloração, o hematoxilina-Shorr foi confiável, sendo que o Grupo III apresentou maior número de células orangeofílicas quando comparado ao grupo II, provavelmente devido à administração de corticóide. O teste de Clements mostrou maturidade pulmonar em aproximadamente 20% dos cordeiros do Grupo I e o Grupo II apresentou 9,1% de bolhas; entretanto, o Grupo III apresentou o maior percentual de maturidade pulmonar (36,4%). Os corpos lamelares foram medidos e todos os grupos apresentaram tamanhos entre 0,019 e 0,590μm. A avaliação radiográfica revelou que a maioria dos cordeiros apresentava algum grau de radiodensidade pulmonar, indicando padrão acinar ao nascimento. Esses resultados estão alinhados com as expectativas de cada grupo. Verificamos que o grupo normal apresentou maior maturidade pulmonar, enquanto o Grupo II apresentou imaturidade pulmonar, o que é esperado por se tratar de cordeiros nascidos prematuramente e o Grupo III apresentou maturidade pulmonar quase comparável ao grupo de parto normal (Grupo I). Isso se deve ao fato de que, embora esses animais sejam prematuros, o uso da dexametasona auxiliou na maturação pulmonar. Portanto, esses testes de maturidade pulmonar são considerados eficazes quando mais de uma técnica são utilizadas e podem ser usadas rotineiramente no cuidado de uma ovelha gestante em trabalho de parto, onde uma simples coleta de líquido amniótico pode prever uma gravidez de alto risco e alertar o veterinário se o recém-nascido precisa de tratamento de suporte intensivo.(AU)

Congenital acinar dysplasia: a lethal entity

Congenital acinar dysplasia is a lethal, developmental lung malformation resulting in neonatal respiratory insufficiency. This entity is characterized by pulmonary hypoplasia and arrest in the pseudoglandular stage of development, resulting in the absence of functional gas exchange. The etiology is unknown, but a relationship with the disruption of the TBX4-FGF10 pathway has been described. There are no definitive antenatal diagnostic tests. It is a diagnosis of exclusion from other diffuse embryologic lung abnormalities with identical clinical presentations that are, however, histopathologically distinct.

Efeitos de um programa de reabilitação nas alterações posturais e no quadro álgico de paciente com dpoc / Effects of a rehabilitation program on postural changes and pain of copd patients

RESUMO Avaliar a influência de um programa de reabilitação nas alterações posturais e no quadro álgico de paciente com Doença Pulmonar Obstrutiva Crônica (DPOC). Participaram 18 pacientes de ambos os sexos, faixa etária de 51 a 82 anos (68,3±10,1 anos) e diagnóstico de DPOC. Foram realizadas avaliações antropométricas, avaliação postural e avaliação do quadro álgico antes (pré-PRP) e após (pós-PRP) um Programa de Reabilitação Pulmonar (PRP). Na avaliação postural foram realizados registros fotográficos nas vistas anterior, posterior e lateral direita e as imagens digitalizadas de acordo com os procedimentos do Software de Avaliação Postural (SAPO). Para a avaliação do quadro álgico foi utilizado um questionário e uma escala analógica. Os resultados mostram que o PRP, com média de 15,8(±3,8) semanas, provocou alterações significativas com diminuição do diâmetro ântero-posterior do tórax, no número total de regiões com sintomas de dor e na intensidade dos sintomas de dor. Não provocou alterações significativas nas variáveis posturais estudadas, mas evidenciou manutenção sem agravamento das alterações posturais quando o tratamento não foi interrompido. Os pacientes com DPOC possuem alterações antropométricas, posturais e no quadro álgico que podem ser decorrentes do processo de envelhecimento somados a ocorrência da doença.

ABSTRACT To assess the influence of a rehabilitation program on postural changes and pain in patients with Chronic Obstructive Pulmonary Disease (COPD). Eighteen patients diagnosed with COPD, male and female, aged 51-82 years (68.3±10.1 years) participated in the study. Anthropometric, postural assessments and pain assessments (prior and after) a Pulmonary Rehabilitation Program (PRP) were carried out. In the postural assessments, photographic records were performed in the anterior, posterior and right lateral views. The images were digitized according to the Postural Assessment Software (SAPO) procedures. A questionnaire and an analogue scale were used for assessing pain. The results suggest that PRP, at an average of 15.8(±3.8) weeks, caused significant changes, with a reduction in the anteroposterior diameter of the thorax, in the total number of regions with pain symptoms and in the intensity of pain symptoms. No significant alterations were depicted in the postural variables studied, although maintenance without aggravation of the postural alterations was evidenced for cases in which treatment was not interrupted. COPD patients present changes in anthropometric, postural and pain conditions that may be due to the aging process added to the occurrence of the disease.

Estudo da permeabilidade vascular pulmonar e das junções interendoteliais na malária experimental / Study of pulmonary vascular permeability and interendothelial junctions in experimental malaria

Infecções por Plasmodium spp. podem acarretar em complicações pulmonares (1 a 40% dos casos), que podem resultar no desenvolvimento da síndrome do desconforto respiratório agudo (SDRA). Esta síndrome é caracterizada por inflamação aguda, lesão do endotélio alveolar e do parênquima pulmonar, disfunção e aumento da permeabilidade da barreira alvéolo-capilar pulmonar e, consequente, formação de efusão pleural. Neste sentido, os mecanismos de regulação da permeabilidade das células endoteliais e as junções interendoteliais têm papel crítico na manutenção do endotélio pulmonar. O objetivo do estudo foi determinar precocemente o desenvolvimento da SDRA associada à malária por tomografia computadorizada por emissão de fóton único (SPECT/CT), além de identificar alterações nas junções interendoteliais das células endoteliais pulmonares primárias de camundongos DBA/2 (CEPP-DBA/2), após contato com os eritrócitos parasitados de Plasmodium berghei ANKA (EP-PbA). Os nossos resultados demonstraram que é possível identificar alterações na aeração pulmonar no 5° e 7° dia após a infecção e, consequentemente, diferenciar os animais que desenvolveriam SDRA daqueles que evoluiriam para hiperparasitemia (HP). Além disso, observamos em CEPP-DBA/2 que o contato direto com EP-PbA aumenta da abertura das junções interendoteliais e da permeabilidade vascular. Assim, avaliamos a diminuição da expressão das proteínas das junções interendoteliais que contribuem para o aumento da permeabilidade vascular, por imunofluorescência e Western Blot. Apesar da SDRA ter sido identificada há mais de 50 anos, ainda não se conhece formas de diagnóstico precoce e os mecanimos efetivos de desenvolvimento desta enfermidade, que permitam um tratamento efetivo e que evite a morte do paciente. Portanto, sugere-se que a técnica de SPECT/CT seja uma importante ferramenta de diagnóstico para identificação precoce de SDRA associado a malária

Infections by Plasmodium spp. can lead to pulmonary complications (1 to 40% of the cases), that can result in the development of acute respiratory distress syndrome (ARDS). This syndrome is characterized by the acute inflammation, injury of the alveolar endothelium and pulmonary parenchyma, dysfunction and increased permeability of the pulmonary alveolar-capillary barrier and, consequently, formation of pleural effusion. In this aspect, mechanisms of regulation of endothelial cell permeability and interendothelial junctions play a critical role in the maintenance of the pulmonary endothelium. The present study aimed to determine the early development of single-photon emission computed tomography (SPECT/CT) associated malaria ARDS in addition to identifying changes in the interendothelial junctions of the primary pulmonary endothelial cells of DBA/2 mice (CEPP-DBA/2) after contact with erythrocytes infected with Plasmodium berghei ANKA (EP-PbA). Our results demonstrated that is possible to identify changes in lung aeration on the 5th and 7th day after infection and, consequently, differentiate the animals that should develop ARDS from those that would evolve to hyperparasitemia (HP). In addition, we observed in CEPP-DBA/2 that direct contact with EP-PbA increases the opening of the interendothelial junctions and vascular permeability. Thus, we evaluated that decrease the expression of interendothelial junction proteins contribute to the increase of vascular permeability, by immunofluorescence and Western Blot. Although ARDS was identified more than 50 years ago, it is not yet known what forms of early diagnosis, and the effective mechanisms of development of this disease, that allow an effective treatment and that prevent the death of the patient. Therefore, it is suggested that the SPECT/CT technique is a valuable tool to promote the early identification of ARDS associated with malaria

Aspergillosis pulmonar / Pulmonary aspergillosis

RESUMEN Se presenta a una paciente de 50 años de edad, atendida durante 2 años por Consulta de Neumología, en la ciudad de Matanzas. Presentaba bronquitis crónica con tratamiento para la misma, hace 3 meses ingresa por Servicio de Medicina Interna por una neumonía de lenta resolución, asociada un síndrome general. Durante el ingreso se manejan varias posibilidades diagnósticas como: posible tuberculosis pulmonar, neoplasia de pulmón o neumonía a gérmenes atípicos. Se confirmó diagnóstico de aspergilosis pulmonar mediante lavado bronquial por broncoscopio. Se aplicó tratamiento con antifúngicos sistémicos y se logró mejoría clínica y radiológica. En esta paciente no existían evidencias de inmunosupresión (AU).

ABSTRACT We present a female patient aged 50 years, attended for two years in the Pulmonology consultation, in the city of Matanzas. She suffered chronic bronchitis with treatment; three months ago she was admitted in the Internal Medicine Service due to a low resolution pneumonia associated to a general syndrome. During her staying in the hospital several diagnostic possibilities were managed: possible pulmonary tuberculosis, lung neoplasia or pneumonia to atypical germs. The diagnosis of pulmonary aspergillosis was confirmed through bronchial lavage `per bronchoscope. no existían evidencias de inmunosupresión. The pronosis is Lung Aspergilosis due to a bronchial washing for bronchoscopy and the treatment begins with systemic antifúngicos, achieving clinical and radiological improvement. There is no evidence of inmunosupression in the patient (AU).

Agenesia pulmonar em gêmeos monozigóticos: relato de caso / Pulmonary agenesis in monozygotic twins: case report

Agenesia pulmonar é uma anormalidade congênita extremamente rara com prevalência estimada de 24-34 casos por 1.000,000 nascidos vivos e estar frequentemente associada com outras malformações congênitas. Descrevemos um caso de agenesia pulmonar em gêmeos monozigóticos, no qual a ausência dos pulmões teve apresentação em espelho- o primeiro gemelar com agenesia de pulmão esquerdo e o segundo gemelar com agenesia de pulmão direito. Houve associação com fenda palatina e lábio leporino no primeiro gêmeo e no segundo gêmeo houve associação com polidactilia. Este diagnóstico foi feito ao nascimento. O diagnóstico de agenesia pulmonar e outras malformações congênitas podem ser realizados durante exame pré-natal por ultra-sonografia morfológica. É importante uma identificação precoce da malformação pulmonar para melhor assistência ao recém-nascido. (AU)

Pulmonary agenesis is a congenital anomaly extremely rare with estimated prevalence of 24-34 cases for each 1,000,000 live births and it is frequently associated with other congenital malformations. We describe a case of pulmonary agenesis in monozygotic twins, in which the absence of the lungs has a mirror presentation - the first twin with left lung agenesis and the second twin with right lung agenesis. There was association with cleft palate and cleft lip in the first twin and, in the second twin, there was association with polydactyly. This diagnosis was made to birth.The diagnosis of pulmonary agenesis and other congenital malformations can be made during prenatal exams by morphological ultrasonoghapy. Early identification of the pulmonary malformation is important for better care of the newborn. (AU)

Asociación LACHT con hipoplasia de la vía aérea superior. Caso clínico / LACHT association with hypoplasia of the upper airway. Clinical case

Resumen Introducción: La asociación Mardini-Nyhan o LACHT es una condición clínica de baja prevalência que cursa con alteraciones pulmonares, cardíacas y de las extremidades. Su etiología no está clara mente documentada hasta la fecha. Objetivo: Describir el caso de una niña de 4 meses y realizar una revisión de la literatura de los casos reportados sobre esta asociación, con el propósito de exponer las alteraciones encontradas y de esta forma orientar el diagnóstico temprano de esta entidad. Caso clínico: Niña de 4 meses de edad que ingresa a cuidado intensivo en insuficiencia respiratoria mixta, con alteraciones pulmonares, cardíacas y de extremidades que cumplen criterios para la asociación LACTH, se documenta adicionalmente hipoplasia de la vía aérea superior, que empeora la evolución, aumenta la dificultad en la ventilación mecánica y favorece el desenlace fatal a los 7 días de hospitali zación. Conclusiones: La asociación LACTH es una patología poco prevalente en la cual los hallazgos clínicos permiten sospechar el diagnóstico. Es caso clínico sería el primer caso diagnosticado en el continente americano y el caso número 11 descrito en la literatura mundial, aportando como nuevo hallazgo la asociación con hipoplasia de la vía aérea superior.

Abstract Introduction: The Mardini-Nyhan or LACHT association is a clinical condition of low prevalence that presents with pulmonary, cardiac and limb abnormalities, in which genetic etiology is not clearly documented to date. Objective: To describe the case of a 4-month-old child and the literature review of cases reported on this association, with the purpose of exposing the alterations found and thus gui de the early diagnosis of this entity. Clinical case: 4 months old girl, who admitted to intensive care in mixed respiratory failure, with pulmonary, cardiac and limb disorders that meet criteria for LACHT association, additionally documents hypoplasia of the upper airway, which worsens the evolution, increases the difficulty in mechanical ventilation and favors the fatal outcome at 7 days of hospita lization. Conclusions: LACTH association is a rare pathology in which the clinical findings make it possible to suspect the diagnosis, this is the first case diagnosed in the Americas and the number 11 case in the world literature and brings as a new finding the association with hypoplasia of the upper airway.

A case of anomalous horizontal fissure and hypoplastic middle lobe of the right lung / Un caso de fisura horizontal anómala y lóbulo medio hipoplásico del pulmón derecho

During dissection practice for medical students at Nagasaki University, a horizontal fissure and hypoplastic middle lobe were encountered in the right lung of an 81-year-old Japanese female. In a normal right lung, the horizontal fissure is situated anterior to the oblique fissure. On the contrary, in the present case, the horizontal fissure was situated posterior to the oblique fissure. We identified a small, additional lobe on the medial surface of this lung. It was situated in the medial part of the oblique fissure, and was determined to be a small hypoplastic middle lobe. As a result of the hypoplasia of the middle lobe, the original horizontal fissure may have disappeared from the anterior surface. The horizontal fissure, in this case, may be a compensatory additional fissure that developed within the inferior lobe. This horizontal fissure was incomplete, both in length and depth. The left lung was normal. This case might be very rare; however, it may aid in the understanding of normal lung development. Therefore, we report this case, including its bronchial branching and vascular distribution.

Durante la práctica de disección para estudiantes de medicina en la Universidad de Nagasaki, se encontró una fisura horizontal y un lóbulo medio hipoplásico en el pulmón derecho de una mujer japonesa de 81 años de edad. En un pulmón derecho normal, la fisura horizontal está situada anterior a la fisura oblicua. Por el contrario, en el presente caso, la fisura horizontal estaba situada posterior a la fisura oblicua. Se identificó un pequeño lóbulo adicional en la superficie medial de este pulmón. Estaba situado en la parte medial de la fisura oblicua, y se determinó que era un pequeño lóbulo medio hipoplásico. Como resultado de la hipoplasia del lóbulo medio, la fisura horizontal original puede haber desaparecido de la superficie anterior. La fisura horizontal, en este caso, puede ser una fisura adicional compensatoria que se desarrolla dentro del lóbulo inferior. Esta fisura horizontal era incompleta, tanto en longitud como en profundidad. El pulmón izquierdo era normal. Este caso podría ser muy raro; Sin embargo, puede ayudar en la comprensión del desarrollo pulmonar normal. Por lo tanto, informamos este variación, incluyendo su ramificación bronquial y la distribución vascular.

Prevalence of lung structure abnormalities in patients with acromegaly and their relationship with gas exchange: cross-sectional analytical study with a control group / Prevalência de alterações na estrutura pulmonar em pacientes com acromegalia e sua relação com a troca gasosa: estudo transversal analítico com grupo controle

CONTEXT AND OBJECTIVE: Different functional respiratory alterations have been described in acromegaly, but their relationship with pulmonary tissue abnormalities is unknown. The objective of this study was to observe possible changes in lung structure and explain their relationship with gas exchange abnormalities. DESIGN AND SETTING: Cross-sectional analytical study with a control group, conducted at a university hospital. METHODS: The study included 36 patients with acromegaly and 24 controls who were all assessed through high-resolution computed tomography of the thorax (CT). Arterial blood gas, effort oximetry and serum growth hormone (GH) and insulin-like growth factor I (IGF-1) were also assessed in the patients with acromegaly. RESULTS: The abnormalities found in the CT scan were not statistically different between the acromegaly and control groups: mild cylindrical bronchiectasis (P = 0.59), linear opacity (P = 0.29), nodular opacity (P = 0.28), increased attenuation (frosted glass; P = 0.48) and decreased attenuation (emphysema; P = 0.32). Radiographic abnormalities were not associated with serum GH and IGF-1. Hypoxemia was present in seven patients; however, in six of them, the hypoxemia could be explained by underlying clinical conditions other than acromegaly: chronic obstructive pulmonary disease in two, obesity in two, bronchial infection in one and asthma in one. CONCLUSION: No changes in lung structure were detected through thorax tomography in comparison with the control subjects. The functional respiratory alterations found were largely explained by alternative diagnoses or had subclinical manifestations, without any plausible relationship with lung structural factors.

CONTEXTO E OBJETIVO: Diferentes alterações funcionais respiratórias são descritas na acromegalia. Sua relação com anormalidades do tecido pulmonar é desconhecida. O objetivo foi observar possíveis alterações da estrutura pulmonar e explicar sua relação com anormalidades da troca gasosa. TIPO DE ESTUDO E LOCAL: Estudo transversal, analítico, com grupo de controle, realizado em um hospital universitário. MÉTODOS: Incluíram-se 36 pacientes com acromegalia e 24 controles que foram avaliados com tomografia computadorizada de alta resolução de tórax (TC); os acromegálicos também foram avaliados com gasometria arterial, oximetria de esforço e dosagens de hormônio de crescimento (GH) e fator de crescimento semelhante à insulina (IGF-1). RESULTADOS: As alterações encontradas na TC não foram estatisticamente diferentes entre os grupos acromegálico e de controle: bronquiectasia cilíndrica leve (P = 0,59), opacidades lineares (P = 0,29), opacidades nodulares (P = 0,28), aumento da atenuação (vidro fosco) (P = 0,48) e redução da atenuação (enfisema; P = 0,32). As alterações radiológicas não se relacionaram com as dosagens de GH e IGF-1. Hipoxemia estava presente em sete pacientes; contudo, em seis deles a hipoxemia poderia ser explicada por condição clínica subjacente diversa da acromegalia: doença pulmonar obstrutiva crônica em dois, obesidade em dois, infecção brônquica em um e asma em um. CONCLUSÕES: Não foram observadas alterações da estrutura pulmonar por tomografia de tórax, quando comparadas ao grupo de controle; as alterações funcionais respiratórias encontradas são explicáveis em grande parte por diagnósticos alternativos, ou se manifestam de forma subclínica, não apresentando relação plausível com o aspecto da estrutura pulmonar.

A Rare Clinical Presentation of Primary Pulmonary Hypoplasia with Tuberculous Pleural Effusion.

Primary pulmonary hypoplasia is rare in adulthood. It is characterized by decreased number or size of bronchi, vessels and alveoli. We present a case of unilateral pulmonary hypoplasia in 44-old-year male smoker who presented with right pleural effusion. His chest X-ray revealed an inhomogenous opacity on the left side with bronchiectatic changes and right minimal pleural effusion. Fiberoptic bronchoscopy revealed blind end bronchi in left upper lobe and computed tomography pulmonary angiography revealed hypoplastic lung with cystic bronchiectasis on the left side and hypoplastic left pulmonary artery. It was not associated with any other congenital anomalies. In addition to symptomatic management, he was started on anti-tuberculous treatment for tuberculous pleural effusion and kept under follow-up.

Enfisema lobar congénito, caso clínico y revista de la literatura / Congenital lobar emphysema, case report and review of the literature

Las malformaciones congénitas broncopulmonares representan un espectro complejo de anomalías del desarrollo anatómico broncopulmonar. Son infrecuentes, aisladas o asociadas a otras malformaciones. Se pueden revelar tardíamente o en el momento del nacimiento. El enfisema lobar congénito (ELC) se manifiesta a menudo con una dificultad respiratoria temprana en el recién nacido. El diagnóstico, que es esencialmente radiológico, muestra una hiperclaridad que no debemos confundir con otras patologías con hiperclaridad, sobre todo con un neumotórax. En la mayoría de los casos el tratamiento es quirúrgico. Presentamos el caso de un recién nacido hospitalizado desde su segundo día de vida por dificultad respiratoria relacionada con un ELC.

The lobar emphysema congenital (LEC) is a rare deformation of the lung and establishes one of the causes of neonatal respiratory distress syndrome. Sometimes, it can be asymptomatic and revealed later. Its origin is undefined in half of the cases. The radiography of the thorax and X-RAY are essential for the diagnosis and treatment.The lobectomy represents the treatment for symptomatic forms. We present the case of a new born child hospitalized in the second day of life for respiratory syndrome in touch with an LEC.

Endometriosis pulmonar parenquimal / Parenchymal pulmonary endometriosis

Paciente con hemoptisis a repetición sincrónica con el periodo menstrual. La radiografía y tomografía de tórax fueron normales. La fibrobroncoscopía solo mostró sangrado proveniente del lóbulo superior derecho, de donde se tomaron muestras de biopsia, lavado y cepillado broncoalveolar. El estudio histológico mostró tejido endometrial compatible con endometriosis pulmonar parenquimal. Se trató con un agonista de GnRH (danazol), con control de la hemoptisis. Seis meses más tarde, la paciente se encontraba asintomática.

A patient with recurrent hemoptysis which was synchronous with the menstrual period. The chest X-ray and thoracic CT scan were normal. A bronchoscopy only showed evidence of bleeding from the right upper lobe, where samples were taken for biopsy, bronchoalveolar lavage and brushing. The hystological study showed endometrial tissue compatible with parenchymal pulmonary endometriosis. It was treated with an GnRH agonist (danazol), with control of hemoptysis. Six months later, the patient was asymptomatic.

Variations in the inter-lobar fissures of lungs obtained from cadavers of south Indian origin / Variaciones en las fisuras pulmonares interlobulares de cadáveres del sur de la India

The proposed aim of the study was to elucidate the variations of the lung fissures and to correlate their importance in clinics. The study was conducted on 48 lung specimens, 30 right and 18 left, obtained from the cadavers of South Indian origin. Among the right-sided lungs, 2 specimens showed absence of horizontal fissure, and the remaining 25 showed incomplete horizontal fissure. Oblique fissure was incomplete in 15 lungs and one lung showed absence of oblique fissure. An accessory fissure was observed in 4 lungs. Among the left sided lungs, the oblique fissure was incomplete in 7 lungs. The presence of an accessory fissure was found in 5 lungs. With the development of radiological and endoscopic techniques and the advancement of pulmonary surgery, the knowledge of morphological variations of lung fissures is of utmost importance to clinicians to correctly locate the bronchopulmonary segment during pulmonary lobectomy, and for radiologists to correctly interpret X-rays and CT scans.

El objetivo fue determinar las variaciones de las fisuras del pulmón y correlacionarlas con su importancia clínica. Se utilizaron 48 muestras de pulmón, 30 del lado derecho y 18 del izquierdo, obtenidos de cadáveres de origen del Sur de la India. Entre los pulmones, en el lado derecho, dos mostraron ausencia de la fisura horizontal, y 25 mostraron una fisura horizontal incompleta. La fisura oblicua fue incompleta en 15 pulmones y en 1 pulmón estuvo ausente. Se observó una fisura accesoria en 4 pulmones. Entre los pulmones del lado izquierdo, la fisura oblicua estuvo incompleta en 7 casos. La presencia de una fisura accesoria se observó en 5 casos. Con el desarrollo de técnicas radiológicas, endoscópicas y el avance de la cirugía pulmonar, el conocimiento de las variaciones morfológicas de las fisuras de pulmón es de importancia para los médicos, permitiendo localizar correctamente el segmento broncopulmonar durante la lobectomía, y para los radiólogos para interpretar correctamente las radiografías y las Tomografías Computarizadas.