La hipótesis de la saliencia aberrante: unificando la neurobiología y la fenomenología de la esquizofrenia / A hipótese da saliência aberrante: unificando a neurobiologia e a fenomenologia da esquizofrenia / The aberrant salience hypothesis: Unifying the neurobiology and phenomenology of schizophrenia / L'hypothèse de la saillance aberrante: unifier la neurobiologie et la phénoménologie de la schizophrénie

Introducción: La popularización del reduccionismo neurobiológico en psicopatología conlleva la idea de que la esquizofrenia puede entenderse simplemente como el producto de alteraciones en el funcionamiento cerebral. Por otro lado, y criticando esta tradición, el enfoque fenomenológico propone que la esquizofrenia debería entenderse como un trastorno del yo. Si bien ambas tradiciones son relevantes en la actualidad, creemos que una comprensión completa del fenómeno psicótico envuelve una integración de ambas. Objetivo: Este artículo plantea que la hipótesis de la saliencia aberrante es un buen candidato para unificar la tradición fenomenológica y la neuropsiquiátrica en el estudio de la esquizofrenia. Procedimiento: Luego de examinar la hipótesis en cuestión en profundidad, exploramos la forma en que podría explicar algunos de los síntomas positivos de la esquizofrenia de forma consistente con sus descripciones fenomenológicas. Conclusiones: Finalmente, se ofrecen algunas consideraciones generales respecto de las consecuencias de nuestro análisis para el campo de la psicopatología.

Introdução: A popularização do reducionismo neurobiológico na psicopatologia traz a ideia de que a esquizofrenia pode ser entendida simplesmente como o produto de alterações na função cerebral. Por outro lado, e criticando essa tradição, a abordagem fenomenológica propõe que a esquizofrenia seja entendida como uma desordem do eu. Embora ambas as tradições sejam relevantes hoje, acreditamos que uma compreensão completa do fenômeno psicótico envolve uma integração de ambas. Objetivo: Este artigo argumenta que a hipótese da saliência aberrante é uma boa candidata para unificar as tradições fenomenológica e neuropsiquiátrica no estudo da esquizofrenia. Procedimento: Depois de examinar a hipótese em questão em profundidade, exploramos como ela pode explicar alguns dos sintomas positivos da esquizofrenia de maneira consistente com suas descrições fenomenológicas. Conclusões: Por fim, são oferecidas algumas considerações gerais sobre as consequências de nossa análise para o campo da psicopatologia.

Background: The popularization of neurobiological reductionism in psychopathology involves the idea that schizophrenia can be fully understood as the mere product of brain-functioning alterations. Criticizing this tradition, the phenomenological approach proposes that schizophrenia should be understood as a self-disturbance. Although both traditions are relevant, we believe that a comprehensive understanding of schizophrenia involves the integration of these two frameworks. Aim: This article proposes that the aberrant salience hypothesis is a good candidate for unifying the phenomenological tradition with the neuropsychiatric approach to psychosis. Methods: After examining the aberrant salience hypothesis in detail, we explore the way in which it can explain the positive symptoms of schizophrenia respecting being consistent with their phenomenological descriptions. Conclusion: we conclude with some considerations about the consequences of our analysis for the field of psychopathology.

Introduction: L'idéal du réductionnisme neurobiologique en psychopathologie implique l'idée que la schizophrénie peut être comprise simplement comme le produit d'altérations du fonctionnement cérébral. D'autre part, et critiquant cette tradition, l'approche phénoménologique propose que la schizophrénie soit comprise comme un trouble de soi. Bien que les deux traditions soient pertinentes aujourd'hui, nous pensons qu'une compréhension complète du phénomène psychotique implique une intégration des deux. Objectif: Cet article soutient que l'hypothèse de la saillance aberrante est un bon candidat pour unifier les traditions phénoménologique et neuropsychiatrique dans l'étude de la schizophrénie. Procédure: Après avoir examiné en profondeur l'hypothèse en question, nous explorons comment elle pourrait expliquer certains des symptômes positifs de la schizophrénie d›une manière cohérente avec leurs descriptions phénoménologiques. Conclusions: Enfin, quelques considérations générales sont proposées concernant les conséquences de notre analyse pour le domaine de la psychopathologie.

Thoracic Endovascular Aortic Repair for Chronic Aortic Dissection with an Isolated Left Vertebral Artery / 日本心臓血管外科学会雑誌

Thoracic endovascular aortic repair (TEVAR) is valuable in the treatment of type B aortic dissection. An isolated left vertebral artery (ILVA) is a common anomaly of the aortic arch. The ILVA is covered during TEVAR in specific cases; however, whether the ILVA should be reconstructed in all cases remains controversial. We report a case of TEVAR performed for chronic aortic dissection in a patient with an ILVA. A 57-year-old woman with an ILVA had a type B acute aortic dissection one year prior to presentation and underwent TEVAR owing to dilation of an ulcer-like projection. We performed ILVA-left common carotid artery (LCCA) anastomosis and LCCA-left axillary artery bypass prior to TEVAR using our usual procedure. The postoperative course was favorable without any major complication. ILVA reconstruction may reduce the incidence of postoperative stroke and spinal cord injury. Usually, an ILVA is easily accessible through the supraclavicular approach, and the anatomical position of the vessel facilitates ILVA-LCCA anastomosis. ILVA reconstruction requires additional features and further consideration.

Two Cases of Descending Aortic Diverticulum Associated with the Right-Sided Aortic Arch / 日本心臓血管外科学会雑誌

Case 1 is a 70-year-old male. He has a history of cholelithiasis and left inguinal hernia. A preoperative examination of the inguinal hernia showed the enlargement of the mediastinal shadow, and he was referred to our department. A close examination revealed a right-sided aortic arch, a right descending aorta, and a descending aortic diverticulum. No subjective symptoms, intracardiac malformations, or other cardiovascular diseases were observed. The surgery was scheduled for descending aorta replacement including a diverticulum with right posterior lateral 4th intercostal thoracotomy and lower body partial extracorporeal circulation. However, due to aortic intima injury at the proximal end, hypothermic cerebral circulatory arrest and proximal anastomosis were performed by the open proximal method. There was no problem with the postoperative course, and he was discharged 19 days after surgery. Case 2 is a 51-year-old female. Born in China, she has lived in Japan for 15 years. No notable history. An abnormal shadow was shown on chest Xp performed in a medical examination, and aortic malformation was suspected on chest CT. She was referred to our department. The diagnosis was right-sided aortic arch, right descending aorta, aberrant left subclavian artery, and Kommerell diverticulum. There were no subjective symptoms and no intracardiac malformations. The operation was a two-stage operation. As the initial surgery, median sternotomy was performed, total arch replacement with intrathoracic reconstruction of the left subclavian artery, and open stent graft insertion, and the Kommerell diverticulum was covered with an open stent graft. We did not treat the diverticulum because it was located on the dorsal side. At 15 days after surgery, we performed embolization of the origin of the left subclavian artery from the Kommerell diverticulum. There was no problem with the postoperative course, and she was discharged 19 days after the initial surgery.

The role of TNF-α and NFkß in an experimental model of intestinal carcinogenesis with 1, 2-dimethyhydrazine

ABSTRACT Purpose: To analyze the potential of tumor necrosis factor-α (TNF-α) and factor nuclear kappa B (NF-κB) as colorectal cancer (CRC) biomarkers in an experimental model of intestinal carcinogenesis with 1,2-dimethyhydrazine (1,2-DMH). Methods: Twenty-four male Wistar rats were divided into two groups: sham and 1,2-DMH. First, 1,2-DMH (20 mg/kg/week) was administered for 15 consecutive weeks. In the 25th week, proctocolectomy was conducted. Histopathological analysis, immunohistochemistry, and gene expression of TNF-α and NF-κB were performed. Statistical analysis was performed using GraphPad Prism. The location of aberrant crypt foci (ACF) was analyzed by Kruskal-Wallis' test. For analyses with two groups with parametric data, the t-test was used; for non-parametric data, the Mann-Whitney's test was used. P < 0.05 was considered significant. Results: The number of ACF and macroscopic lesions was significantly higher (p < 0.5) in the 1,2-DMH group compared to the sham group, and most ACF were concentrated in the distal segment of the colon. There was a statistically significant increase (p < 0.5) in protein and gene expression of TNF-α and NF-κB in the 1,2-DMH group compared to the sham group. Conclusions: Our results provide supportive evidence that TNF-α and NF-κB pathways are strongly involved in CRC development in rats and might be used as early biomarkers of CRC pathogenesis in experimental studies.

Effect of RHAG variants identified in Chinese population on RHAG mRNA splicing in vitro / 中国输血杂志

【Objective】 To study the effect of RHAG variants identified in Chinese population on mRNA splicing by minigene splicing assay(MSA) in vitro. 【Methods】 The pSplicePOLR2G minigene expression plasmids were constructed for 10 RHAG mutations with relatively high distribution frequency in Chinese population near splicing sites or synonymous mutations by analyzing the RHAG gene data in the KMxD database. Then, the wild-type and mutant plasmids were transfected into HEK 293T cells, and RNA was extracted 48 hours after transfection. After reverse transcription, specific primers were used for PCR amplification, and then agarose gel electrophoresis and capillary electrophoresis were performed to determine whether the mutations will affect the normal splicing of exons. 【Results】 MSA in vitro showed that 2 mutations (c.158-5delT, c. 807+ 3A>C) near the splicing site reduced the amount of normal transcripts slightly. The remaining 8 synonymous mutations(c.312G>A, c. 341+ 3G>A, c. 609C>T, c. 681G>A, c. 861G>A, c. 957T>A, c. 984T>C and c. 1139-7G>A) had no impact on the splicing of RHAG mRNA. 【Conclusion】 This study showed that RHAG gene was conservative in terms of splicing, and the mutations near splicing sites and synonymous mutations were less likely to cause abnormal splicing of RHAG gene.

Debranching Thoracic Endovascular Aortic Repair for Kommerell's Diverticulum with Right-Sided Aortic Arch / 日本心臓血管外科学会雑誌

We report a case of debranching thoracic endovascular aortic repair for Kommerell's diverticulum with right-sided aortic arch in 78-year-old women. The computed tomography (CT) demonstrated Kommerell's diverticulum with a right-sided aortic arch and the trachea and esophagus were compressed by the diverticulum. The diverticulum had a maximum diameter of 32 mm, and surgical intervention was chosen because of the aneurysmal change and the possibility of rupture. We performed endovascular aortic repair for Kommerell's diverticulum with a right-sided aortic arch because of low lung function and low frailty. The patient was discharged on the 21st postoperative day. There was no evidence of aortic event during 2 years follow up.

Splicing abnormalities caused by a novel mutation in the PHKA2 gene in children with glycogen storage disease type IX / 中华肝脏病杂志

Objective: Glycogen storage disease type IX (GSD-IX) is a rare primary glucose metabolism abnormality caused by phosphorylase kinase deficiency and a series of pathogenic gene mutations. The clinical characteristics, gene analysis, and functional verification of a mutation in a child with hepatomegaly are summarized here to clarify the pathogenic cause of the disease. Methods: The clinical data of a child with GSD-IX was collected. Peripheral blood from the child and his parents was collected for genomic DNA extraction. The patient's gene diagnosis was performed by second-generation sequencing. The suspected mutations were verified by Sanger sequencing and bioinformatics analysis. The suspected splicing mutations were verified in vivo by RT-PCR and first-generation sequencing. Results: Hepatomegaly, transaminitis, and hypertriglyceridemia were present in children. Liver biopsy pathological examination results indicated glycogen storage disease. Gene sequencing revealed that the child had a c.285 + 2_285 + 5delTAGG hemizygous mutation in the PHKA2 gene. Sanger sequencing verification showed that the mother of the child was heterozygous and the father of the child was of the wild type. Software such as HSF3.1 and ESEfinder predicted that the gene mutation affected splicing. RT-PCR of peripheral blood from children and his mother confirmed that the mutation had caused the skipping of exon 3 during the constitutive splicing of the PHKA2 gene. Conclusion: The hemizygous mutation in the PHKA2 gene (c.285 + 2_285 + 5delTAGG) is the pathogenic cause of the patient's disease. The detection of the novel mutation site enriches the mutation spectrum of the PHKA2 gene and serves as a basis for the family's genetic counseling.

Artéria subclávia direita aberrante: relato de caso e revisão de literatura / Aberrant right subclavian artery: case report and literature review

Resumo A artéria subclávia direita aberrante, também conhecida como artéria lusória, é a anomalia do arco aórtico mais comum, ocorrendo entre 0,5 e 1% da população. Possui prevalência em mulheres e normalmente está associada a outras variações anatômicas, como o nervo laríngeo não recorrente, presente em 86,7% dos casos. Em sua maioria, a artéria subclávia direita aberrante não apresenta sintomas. Descrevemos essa alteração em uma paciente de 82 anos, hipertensa e assintomática, que havia sido submetida a uma angiotomografia toracoabdominal para a avaliação de uma dissecção crônica tipo III (DeBakey) associada à dilatação de aorta descendente. No achado, a artéria subclávia direita aberrante apresentava percurso retroesofágico associado a um divertículo de Kommerell. Devido à raridade, realizamos revisão bibliográfica integrativa das bases de dados MEDLINE, UpToDate, LILACS, SciELO e Portal CAPES dos últimos 6 anos e discutimos as alterações anatômicas mais frequentes, a sintomatologia e as condutas terapêuticas adotadas.

Abstract The aberrant right subclavian artery, also known as the arteria lusoria, is the most common aortic arch anomaly, occurring in 0.5 to 1% of the population. There is a higher prevalence in women and it is usually associated with other anatomical variations, such as the non-recurrent laryngeal nerve, present in 86.7% of cases. In the majority of cases, the aberrant right subclavian artery causes no symptoms. We describe this anomaly in an 82-year-old, hypertensive, and asymptomatic patient who had undergone a thoracoabdominal angiography to investigate a chronic DeBakey type III aortic dissection with dilation of the descending aorta. The aberrant right subclavian artery followed a retroesophageal course and was associated with a Kommerell diverticulum. In view of its rarity, we conducted an integrative bibliographic review of literature from the last 6 years indexed on the Medline, UpToDate, Lilacs, Scielo, and Portal Capes databases and discuss the most frequent anatomical changes, symptomatology, and therapeutic management adopted.

Bases neuroquímicas de la transmetilación aberrante de neuroaminas y su relación con el metabolismo de la vitamina B12 y el ácido fólico / Neurochemical basis of the aberrant transmethylation of neuroamines and its relationship with the metabolism of vitamin B12 and folic acid / Bases neuroquímicas da transmetilação aberrante de neuroaminas e sua relação com o metabolismo da vitamina B12 e ácido fólico / Reconocimiento a la trayectoria del Prof. Dr. Juan Miguel Castagnino†

Resumen En este trabajo se analizan las alteraciones que pueden ocurrir en el proceso de metilación vía los ciclos de metionina y de folato, dando lugar a disfunciones que se manifiestan en problemas de salud mental, dentro de las cuales se incluye la esquizofrenia. Se discuten las alteraciones en los sistemas neurobiológicos observadas en el espectro esquizofrénico, en particular la transmetilación patológica, y se destacan las investigaciones que contribuyeron a demostrarla, incluyendo las de este grupo de investigación. Se abordan la disfunción mitocondrial, el estrés oxidativo, la proteómica y las regulaciones epigenéticas, como la metilación del ADN. Las disfunciones de la señalización de serotonina y del gen HTR2A participan en su desarrollo. Se han investigado las alteraciones neurometabólicas en cuadros psicóticos, fundamentalmente en indolalquilaminas. Se observó una correlación exhaustiva entre la actividad transmetilante, la hipoactividad de monoaminooxidasa (MAO), la alteración de las MAO intra y extracelulares y la presencia de indolalquilaminas metiladas en orina en varios fenotipos esquizofrénicos, con un 94,1% de actividad de transmetilación superior a la normal. Se demostró in vivo, en conejos, que la N,N-dimetiltriptamina permaneció en el cerebro hasta 7 días después de administrarla, a diferencia de la serotonina y la triptamina. Principalmente, los receptores sigma-1 y 5-HT2a-mGlu2 y los transportadores SERT y VMAT2 permitieron explicar el comportamiento.

Abstract Alterations that may occur in the methylation process via folate and methionine cycles, resulting in dysfunctions evidenced in psychiatric disorders such as schizophrenia are analysed. The changes in neurobiological systems related to the pathogenesis of schizophrenia, in particular pathological transmethylation, are discussed highlighting research that contributed to prove it, including those of this research group. Mitochondrial dysfunction, oxidative stress, proteomics, and epigenetic regulations such as DNA methylation are discussed. Dysfunctions of serotonin signaling and HTR2A gene are involved in the development of schizophrenia. The neurometabolic alteration of schizophrenia was investigated, focusing on indolealkylamines. An exhaustive correlation between transmethylation activity, monoamine oxidase (MAO) hypoactivity, intra- and extracellular MAOs alteration, and the occurrence of methylated indolealkylamines in urine of several schizophrenic phenotypes, with 94.1% transmethylation activity above normal were observed. It was demonstrated in vivo in rabbits that N,N-dimethyltryptamine remained in the brain, even 7 days after administration, unlike serotonin and tryptamine. Mainly sigma-1 and 5-HT2A-mGlu2 receptors as well as SERT and VMAT2 transporters made it possible to explain this behaviour.

Resumo As alterações que podem ocorrer no processo de metilação através de ciclos de folato e de metionina, resultando em disfunções reveladas em distúrbios psiquiátricos, tais como esquizofrenia, são analisadas. As alterações nos sistemas neurobiológicos relacionadas com a etiopatogenia da esquizofrenia, são discutidas, em particular a transmetilação patológica, destacando as pesquisas que contribuíram para demonstrá-la, incluido as deste grupo de investigação. A disfunção mitocondrial, estresse oxidativo, proteômica e regulação epigenética como metilação do DNA na esquizofrenia são discutidos. As disfunções da sinalização da serotonina e do gene HTR2A estão envolvidas na patogênese. Investigamos a alteração neurometabólica da esquizofrenia, com foco em indolalquilaminas. Houve uma correlação exaustiva entre a atividade transmetilante, a hipoatividade de MAO, a alteração das MAO intra e extracelular, e a presença na urina de indolalquilaminas metiladas em vários fenótipos esquizofrênicos, com 94,1% de atividade de transmetilação acima do normal. Demonstramos in vivo em coelhos como N,N-dimetiltriptamina permaneceu no cérebro 7 dias após administrá-la, ao contrário de serotonina e triptamina. Principalmente receptores sigma-1 e 5-HT2A-mGlu2 , e os transportadores SERT e VMAT2 permitiram explicar o comportamento.

Laparoscopic management of pelvi-ureteric junction obstruction caused by aberrant renal vessels in an adult

Pelvi-ureteric junction obstruction (PUJO) is not a rare clinical entity. It is indeed one of the common urological conditions presenting most commonly with hydronephrosis and pain. The most common etiology for patients suffering from acquired PUJO is the presence of calculus/calculi. An aberrant renal vessel (now termed as a vascular bar) is one of the causes in adults which are often missed on pre-operative investigations and is detected intraoperatively. We present herein the case of a 28 years old female who came with complaints of loin pain for 2 – 3 months. The workup investigations revealed only hydronephrosis without any calculi. Thus, a diagnosis of the primary PUJO was made. The patient was successfully managed by a laparoscopic pyeloplasty.

Symptomatic aberrant right subclavian artery—A case report and anesthetic implications

Vascular compression of the esophagus by an aberrant right subclavian artery (aRSA) leading to dysphagia is a rare occurrence. There has been a significant advancement in the diagnostic and surgical treatment modalities available for this disorder. Anesthetic management has evolved too and this case report highlights the anesthetic management of a 41?year?old woman presenting with symptoms of dysphagia because of compression of esophagus by an aRSA, who subsequently underwent re?implantation of aRSA into ascending aorta.

Anticarcinogenic activity of methanol extract of Melastoma malabathricum leaves is attributed to the presence of phenolics compounds and the activation of endogenous antioxidant system / Actividad anticancerígena del extracto metanólico de hojas de Melastoma malabathricum atribuida a la presencia de compuestos fenólicos y a la activación del sistema antioxidante endógeno

Melastoma malabathricum (M. malabathricum) extracts have been reported to exert various pharmacological activities including antioxidants, anti-inflammatory and antiproliferative activities. The objective of the present study was to determine the anticarcinogenic activity of its methanol extract (MEMM) against the azoxymethane (AOM)-induced early colon carcinogenesis in rats. Rats were randomly assigned to five groups (n=6) namely normal control, negative control, and treatment (50, 250 or 500 mg/kg of MEMM) groups. Colon tissues were harvested for histopathological analysis and endogenous antioxidant system determination. MEMM was also subjected to HPLC analysis. Findings showed that MEMM significantly (p<0.05) reversed the AOM-induced carcinogenicity by: i) reducing the formation of aberrant crypt foci (ACF) in colon tissues, and; ii) enhancing the endogenous antioxidant activity (catalase, superoxide dismutase and glutathione peroxidase). Moreover, various phenolics has been identified in MEMM. In conclusion, MEMM exerts the in vivo anticarcinogenic activity via the activation of endogenous antioxidant system and synergistic action of phenolics.

Se ha informado que los extractos de Melastoma malabathricum (M. malabathricum) ejercen diversas actividades farmacológicas, incluidas actividades antioxidantes, antiinflamatorias y antiproliferativas. El objetivo del presente estudio fue determinar la actividad anticancerígena de su extracto de metanol (MEMM) contra la carcinogénesis de colon temprana inducida por azoximetano (AOM) en ratas. Las ratas se asignaron al azar a cinco grupos (n=6), a saber, los grupos de control normal, control negativo y tratamiento (50, 250 o 500 mg/kg de MEMM). Tejidos de colon fueron recolectados para análisis histopatológico y determinación del sistema antioxidante endógeno. MEMM también se sometió a análisis de HPLC. Los hallazgos mostraron que MEMM invirtió significativamente (p<0.05) la carcinogenicidad inducida por AOM al: i) reducir la formación de focos de criptas aberrantes (ACF) en los tejidos del colon, y; ii) potenciar la actividad antioxidante endógena (catalasa, superóxido dismutasa y glutatión peroxidasa). Además, se han identificado varios fenólicos en MEMM. En conclusión, MEMM ejerce la actividad anticancerígena in vivo mediante la activación del sistema antioxidante endógeno y la acción sinérgica de los fenólicos.

Classification of alar abnormalities and the relevant treatments / 中南大学学报(医学版)

At present, nasal abnormalities is often classified from different perspectives, such as the alar-columella relationship, nasal base width, and the condition of alar hyperplasia. However, due to the impact of race and region, different people may be applied to different classification methods, resulting in different clinical diagnosis and treatments. So far, there is no unified standard for alar deformity classification to guide clinical treatment. In alar-columella relationship, the retracted ala and the hanging columella, hanging ala and retracted columella are easily confused. According to the classification of nasal base width, it is easy to confuse the alar flare with wide alar base. Therefore, the accurate preoperative evaluation of the nasal ala and the selection of appropriate clinical treatments for different abnormalities are beneficial for surgeons to achieve perfect rhinoplasty results.

Various features of Chlamydia trachomatis aberrant reticulate body under different induction conditions in vitro and the possible mechanisms / 中华微生物学和免疫学杂志

Persistent Chlamydia trachomatis urogenital tract infection may lead to pelvic inflammatory disease, ectopic pregnancy and tubal infertility in women, and urethritis, epididymitis and other complications in men, which is a hotspot and chanllenge in disease control at home and abroad. In recent years, many researches have shown that Chlamydia trachomatis aberrant reticulate body may be one of the major causes of persistent infection. This review summarized the genomic and proteomic characteristics of Chlamydia trachomatis aberrant reticulate body induced under various conditions in vitro, aiming to elucidating its role in antimicrobial resistance. The identification of persistent infection-related factors, providing new diagnostic targets for the detection of subclinically refractory long-term infections, is a prerequisite for finding appropriate methods to diagnose and treat the complications of Chlamydia trachomatis infection and is crucial for identifying new targets in the post-genomic era.

Arteria subclavia derecha aberrante: a propósito de un caso pediátrico / Aberrant right subclavia artery: purpose of a pediatric case

Los anillos vasculares son anomalías anatómicas que ocurren durante el desarrollo embrionario del arco aórtico, sus ramas y de la arteria pulmonar. Estas estructuras vasculares pueden conducir a grados variables de sintomatología respiratoria y/o digestiva debido a la formación de un anillo completo o parcial que comprime la tráquea y/o el esófago. La arteria subclavia derecha aberrante es la anomalía más común del arco aórtico, con una incidencia reportada entre 0.5 a 2.5%. Generalmente es asintomática, sin embargo, la disfagia es el síntoma más frecuente porque en la mayoría de los casos transcurre detrás del esófago. El diagnóstico puede ser incidental en casos asintomáticos o como resultado del estudio de síntomas digestivos y/o respiratorios persistentes o recurrentes. Los pacientes sintomáticos requieren intervención quirúrgica. Describimos el caso de una paciente de 3 meses de edad con arteria subclavia derecha aberrante. El esofagograma mostró compresión extrínseca del esófago, y la angiotomografía computada confirmó el diagnóstico. La corrección quirúrgica se realizó exitosamente.

Vascular rings are anatomical abnormalities that occur during embryonic development of the aortic arch, its branches, and the pulmonary artery. These vascular structures can lead to variable degrees of respiratory and/or digestive symptoms by forming a complete or partial ring compressing the trachea and/or the esophagus. The aberrant right subclavian artery is the most common aortic arch anomaly, with reported incidence between 0.5 to 2.5%. It is generally asymptomatic; however, dysphagia is the most recognized symptom because in majority of the cases it crosses behind the esophagus. The diagnosis can be incidental when they are asymptomatic or as a result of the study of persistent or recurrent digestive and/or respiratory symptoms. Symptomatic patients require surgical intervention. We describe the case of a 3-month-old female patient with aberrant right subclavian artery. The barium esophagram showed extrinsic compression of the esophagus, and the computed tomography angiography confirmed the diagnosis. Surgical correction was successfully performed.

Prenatal Diagnosis of Aberrant Right Subclavian Artery: Association with Genetic Abnormalities / Diagnóstico pré-natal de artéria subclávia direita anômala: associação com anormalidades genéticas

Abstract Objective The objective of the present study was to determine the frequency of malformations and chromosomal abnormalities in a population of fetuses with an aberrant right subclavian artery (ARSA). Methods This is a 6-year retrospective study of fetuses with a prenatal diagnosis of ARSA conducted during the period between September 2013 and June 2019 at a fetal medicine unit. Data were collected from ultrasound, fetal echocardiograms, genetic studies, and neonatal records. Results An ARSA was diagnosed in 22 fetuses. An ARSA was an isolated finding in 18 out of 22 cases (82%). Associated abnormal sonographic findings were found in 4 cases. All cases underwent invasive testing. In 1 of the cases, a chromosomal abnormality was detected (mos 45,X [13]/46,X,e(X) (p22.1q22.1)). No cases of congenital heart disease were found in any of these fetuses. There were two cases in which the postnatal evaluation revealed amalformation: one case of hypospadias and 1 case of cleft palate. Conclusion The presence of an isolated ARSA is benign and is not associated with chromosomal abnormalities. The finding of ARSA, however, warrants a detailed fetal ultrasound in order to exclude major fetal abnormalities and other soft markers.

Resumo Objetivo O objetivo do presente estudo foi determinar a frequência demalformaçães e anomalias cromossômicas em uma população de fetos com artéria subclávia direita aberrante (ARSA). Métodos Este é um estudo retrospectivo de 6 anos de fetos com diagnóstico prénatal de ARSA realizado durante o período de setembro de 2013 a junho de 2019 em uma unidade de medicina fetal. Os dados foram coletados de ultrassom, ecocardiograma fetal, estudos genéticos e registros neonatais. Resultados Um ARSA foi diagnosticado em 22 fetos. Um ARSA foi um achado isolado em 18 dos 22 casos (82%). Achados ultrassonográficos anormais associados foram encontrados em 4 casos. Todos os casos foram submetidos a testes invasivos. Em um dos casos, foi detectada uma anormalidade cromossômica (mos 45, X [13] / 46, X, e (X) (p22.1q22.1)). Nenhum caso de doença cardíaca congênita foi encontrado em qualquer um desses fetos. Houve dois casos em que a avaliação pós-natal revelou a malformação: um caso de hipospádia e 1 caso de fenda palatina. Conclusão A presença de ARSA isolado é benigna e não está associada a anormalidades cromossômicas. O achado de ARSA, no entanto, justifica uma ultrassonografia fetal detalhada para excluir anormalidades fetais importantes e outros marcadores leves.

Progress in surgical treatment of Kommerell's diverticulum / 中国胸心血管外科临床杂志

@#Kommerell's diverticulum is a rare congenital abnormal aortic development. The diverticulum can occur in both left and right aortic arches, from which an aberrant subclavian artery rises to the contralateral side. Only a small number of patients with Kommerell's diverticulum present symptoms. Dysphagia, dyspnea, chest discomfort and upper extremity blood pressure difference are common in adult patients. The risk of aortic dissection or aortic aneurysm rupture is higher in such patients than that in patients with normal aorta. Early surgical intervention is recommended to improve the prognosis. Treatment options include open surgical repair, hybrid operation and total endovascular repair. The choice of surgical method depends on the specific anatomy of patients, the patients' state and the preference of surgeons. This paper reviewed and summarized the surgical methods and early results of the treatment of Kommerell's diverticulum reported in the literature from 2015 to 2020.

Clinical analysis of surgical correction for congenital vascular ring in children in a single center / 中国胸心血管外科临床杂志

@#Objective    To investigate the best anatomical classification, surgical timing, procedure and clinical outcomes of congenital vascular ring. Methods    The clinical data of 58 patients who underwent congenital vascular ring surgery in Pediatric Surgery Center, Fuwai Hospital between 2014 and 2019 were retrospectively analyzed. There were 32 (55.2%) males and 26 (44.8%) females with a median age of 16.5 (2-73) months. Preoperative symptoms, imaging examinations, anatomical classifications, surgical procedures and postoperative recovery were assessed. Results    There were 20 (34.5%) patients of double aortic arch, 22 (37.9%) patients of right aortic arch with left arterial duct or ligament, 15 (25.9%) patients of left aortic arch with aberrant right subclavian artery, and 1 (1.7%) patient of circumflex aorta with cervical aorta arch. The median ventilator supporting time was 6.0 (0-648) h, and the median hospital stay time was 14.5 (7-104) d. One patient with coarctation of aorta died of severe pulmonary infection during perioperative period, and the others survived without symptoms and reoperation after discharge. The median follow-up time was 7.0 (1-62) months. Conclusion    For children with unexplained dyspnea and dysphagia, or with right aortic arch, preoperative imaging examinations such as computed tomography or magnetic resonance imaging are required to confirm the diagnosis of vascular ring. Surgical correction of congenital vascular ring is safe and reliable, and can effectively relieve symptoms. The mortality rate and reoperation rate are low, and the follow-up results are satisfactory.

ARMC5 mutations are associated with high levels of proliferating cell nuclear antigen and the presence of the serotonin receptor 5HT4R in PMAH nodules

ABSTRACT Objective To analyze the morphological and functional characteristics of primary macronodular adrenal hyperplasia (PMAH) nodules carrying or not carrying ARMC5 mutations and the consequences of the presence of mutations in terms of the pattern of macronodule composition and functional state. Subjects and methods The analyses were performed by hematoxylin-eosin staining, immunohistochemistry, microdissection of spongiocyte tissue and RT-qPCR of histological sections from 16 patients diagnosed with PMAH with germline (5) or germline/somatic mutations (5) and without mutations (6) in the ARMC5 gene. Results Hyperplastic nodules were predominantly composed of spongiocytes in mutated and nonmutated sections. ARMC5 mRNA expression in spongiocytes was higher in ARMC5-mutated nodules than in ARMC5-nonmutated nodules, and homogenous ARMC5 protein distribution was observed. The presence of arginine-vasopressin receptor (AVP1AR) and ectopic ACTH production were observed in both cell populations regardless of ARMC5 mutations; the numbers of serotonin receptor (5HT4R)- and proliferating cell nuclear antigen (PCNA)-positive cells were higher in macronodules carrying ARMC5 mutations than in those without mutations. Conclusions Our results suggest that the presence of ARMC5 mutations does not interfere with the pattern of distribution of spongiocytes and compact cells or with the presence of AVP1AR, gastric-inhibitory polypeptide receptor (GIPR) and ectopic ACTH. Nevertheless, the higher numbers of PCNA-positive cells in mutated nodules than in nonmutated nodules suggest that mutated ARMC5 can be related to higher proliferation rates in these cells. In conclusion, our results provide more information about the crosstalk among abnormal GPCRs, ectopic ACTH in steroidogenesis and the ARMC5 gene, which may be relevant in understanding the pathogenesis and diagnosis of patients with PMAH.

Primary intraosseous squamous cell carcinoma ex-odontogenic cyst

Squamous cell carcinomas of the oral cavity are quite common, but primary intraosseous squamous cell carcinomas (PIOSCCs) are rare. Their origin from lining of different odontogenic cysts has been documented. More than 50% of such cases have been reported to occur in periapical inflammatory cysts, and less than 10 cases are reported to arise from odontogenic keratocyst (OKC). One such rare case of a PIOSCC, which presented as an OKC initially, is being reported