Rectal cancer - avoiding surgery?

Nonoperative treatment of rectal cancer is gaining popularity. Several trials recently demonstrated advantages in disease-free survival with total neoadjuvant treatment (TNT) with the addition of the watch and wait (WW) strategy for locally advanced rectal cancer. On longer follow-up, an unexpected increased risk in local recurrence in the TNT group at the RAPIDO trial suggested early surgery for nonresponding tumours. The WW option is globally accepted for a complete clinical response; however, a high rate of regrowth was found in a registry with an increased risk of distant metastases, questioning the deleterious effect of deferral of surgery in this group. The short- and long-term toxic effects of neoadjuvant treatment are costs to consider in the National Comprehensive Cancer Network guidelines compared with the European Society for Medical Oncology guidelines, which favour surgery alone if good mesorectal resection is assured with increasing surgical proficiency adjusted to the precise anatomical location.

Gestação na adolescência: o desvelar de uma vivência / Teenage pregnancy: unveiling an experience / Embarazo en la adolescencia: la revelación de una experiência

Objetivo: analisar a experiência vivenciada na atenção básica por adolescentes grávidas durante o pré-natal em uma Unidade de Saúde de Ceilândia ­DF. Método:O estudo usou a abordagem qualitativa e o método fenomenológico. A coleta dos dados foi por meio de entrevista direcionada a adolescentes previamente selecionadas mediante adequação aos critérios de inclusão. Foram resguardados o sigilo, a confidencialidade e a fidedignidade dos dados coletados. Resultados:Os dados finais estão apresentados em 6 categorias. Trouxe à evidência de que a gravidez na adolescência ainda é um problema que acomete a identidade em formação de adolescentes e que a falta de adesão aos programas de promoção à saúde por parte deste público ainda existe, necessitando assim de olhar mais apurado e capacitado para atender as necessidades em saúde desta população. Conclusão:o atendimento nessa circunstância demanda cuidados, com isso, profissionais de saúde capacitados devem estar associados a essa situação, de forma que busquem estabelecer vínculos com a adolescente e por meio de uma reflexão com ela, seu companheiro e familiares, tentem encontrar estratégias que possibilitem a minimização de problemas.

Objective:Objective: to analyze the experience lived in primary care by pregnant adolescents during prenatal care at a Health Unit in Ceilândia, Brasília, Brazil. Method:The study used a qualitative approach and the phenomenological method. Datacollection was done through interviews with previously selected adolescents who met the inclusion criteria. Confidentiality and data accuracy were ensured. Results:The final data are presented in 6 categories. It brought to light that adolescent pregnancy is still a problem that affects the forming identity of adolescents and that the lack of adherence to health promotion programs by this group still exists, requiring a more specialized and capable approach to address the health needs of this population. Conclusion: Care in this circumstance demands special attention, therefore, trained healthcare professionals should be involved in this situation, seeking to establish bonds with the adolescent and, through reflection with her, her partner, and family members, find strategies to minimize problems.

Objetivo:analizar la experiencia vivida en la atención primaria por adolescentes embarazadas durante el período prenatal en una Unidad de Salud en Ceilândia, Brasilia, Brasil. Método:El estudio utilizó un enfoque cualitativo y el método fenomenológico. La recopilación de datos se realizó a través de entrevistas dirigidas a adolescentes previamente seleccionadas que cumplían con los criterios de inclusión. Se garantizó la confidencialidad y la veracidad de los datos recopilados. Resultados:Los datos finales se presentan en 6 categorías. Se evidenció que el embarazo en la adolescencia sigue siendo un problema que afecta la identidad en formación de los adolescentes y que la falta de adhesión a los programas de promoción de la salud por parte de este grupo todavía existe, lo que requiere una mirada más especializada y capacitada para abordar las necesidades de salud de esta población. Conclusión:La atención en esta circunstancia requiere cuidados especiales, por lo tanto, profesionales de la salud capacitados deben estar involucrados en esta situación, buscando establecer vínculos con la adolescente y, a través de la reflexión con ella, su pareja y familiares, encontrar estrategias que permitan minimizar los problemas.

Laparoscopy as a Facilitator in the Early Diagnosis of a Mullerian Aplasia During Ordinary Surgery.

Laparoscopy was introduced more than 100 years ago. However, in some fields its use still meets resistance. Technology such as laparoscopy may help to identify rare and complex disorders, even in very ordinary procedures, such as inguinal hernia repair. This report highlighted the importance of early diagnosis of a complex condition using commonly available technology. To the best of our knowledge, there has not been a similar reported case in such a young patient during laparoscopic inguinal hernia repair.

New SHH and Known SIX3 Variants in a Series of Latin American Patients with Holoprosencephaly.

Holoprosencephaly (HPE) is the failure of the embryonic forebrain to develop into 2 hemispheres promoting midline cerebral and facial defects. The wide phenotypic variability and causal heterogeneity make genetic counseling difficult. Heterozygous variants with incomplete penetrance and variable expressivity in the SHH, SIX3, ZIC2, and TGIF1 genes explain ∼25% of the known causes of nonchromosomal HPE. We studied these 4 genes and clinically described 27 Latin American families presenting with nonchromosomal HPE. Three new SHH variants and a third known SIX3 likely pathogenic variant found by Sanger sequencing explained 15% of our cases. Genotype-phenotype correlation in these 4 families and published families with identical or similar driver gene, mutated domain, conservation of residue in other species, and the type of variant explain the pathogenicity but not the phenotypic variability. Nine patients, including 2 with SHH pathogenic variants, presented benign variants of the SHH, SIX3, ZIC2, and TGIF1 genes with potential alteration of splicing, a causal proposition in need of further studies. Finding more families with the same SIX3 variant may allow further identification of genetic or environmental modifiers explaining its variable phenotypic expression.

Spontaneous Pubertal Onset in a Male Patient With Mixed Gonadal Dysgenesis With Mosaicism 45,X/ 46, X, mar (Y)/ 47,X,mar(Y),+mar(Y) - Pediatric Case Report.

This report describes an adolescent with Mixed Gonadal Dysgenesis and unexpected mosaicism [karyotype 46,X,mar(Y)/ 47,X, mar(Y),+mar(Y)].). Diagnosis with 1 month of age due to atypical genitalia. He presented a right streak gonad, which was removed due to the risk for germ cell tumor, and a left testis with epididymis barely connected and without vas deferens. Left testis maintenance was sufficient for him to undergo spontaneous puberty. The patient was non-responsive to growth hormone. Webbed neck was the only dysmorphic feature. To the best of our knowledge, there were no similar cases reported with spontaneous pubertal progress reported in the literature.

Laparoscopic gonad-sparing procedure in Ovotesticular disorder of sex development - Case video technique.

INTRODUCTION: Ovotesticular disorder of sex development (OTD) is a rare condition. There's a lack of literature addressing gonad-sparing surgery for OTD. OBJECTIVE: Report the laparoscopic partial gonadectomy technique - gonad-sparing surgery - in an 11-year-old child, 46, XX karyotype with OTD with atypical genitalia. MATERIAL AND METHODS: After a complete diagnostic evaluation the patient underwent feminizing genitoplasty followed by laparoscopic partial gonadectomy (gonad-sparing surgery). The patient was positioned on supine position and Trendelenburg. One 5 mm port was placed on the umbilicus and two 3 mm ports in both flanks. A gonadal wedge biopsy was performed to achieve histopathological confirmation before resection. The testicular component of the ovotestis is clearly identified based on macroscopic aspects, and resected with laparoscopic scissors and limited use of electrocautery. DISCUSSION: This case was classified as bipolar or terminal ovotestis. At the 5-month follow-up, the patient attained menarche. No adverse outcomes have been recorded. Postoperative third year follow-up hormone evaluation revealed a= female pattern characteristic and ultrasound demonstraed uterine volume increase, as well as bilateral ovarian tissue development with follicles. CONCLUSIONS: Gonad-sparing procedure is feasible and desirable whenever possible, especially in 46, XX patients with female sex of rearing, since it preserves the fertility potential. The risk of malignancy must be monitored.

List of priority congenital anomalies for surveillance under the Brazilian Live Birth Information System. / Lista de anomalias congênitas prioritárias para vigilância no âmbito do Sistema de Informações sobre Nascidos Vivos do Brasil.

OBJECTIVE: To define the list of priority congenital anomalies for improving their recording on the Brazilian Live Birth Information System (Sinasc). METHODS: Based on the International Statistical Classification of Diseases and Related Health Problems, Tenth Revision (ICD-10), international protocols and meetings with specialists, the list of priority anomalies was built considering two main criteria: being diagnosable at birth and having intervention available at different levels. The list was submitted for consideration by the Brazilian Medical Genetics and Genomics Society. RESULTS: The list comprised eight groups of congenital anomalies distributed according to the type of related anomaly, as well as the affected part of the body and its corresponding code in ICD-10 Chapter XVII. CONCLUSION: The list of priority congenital anomalies for notification provides a basis for improving case recording on Sinasc.

List of priority congenital anomalies for surveillance under the Brazilian Information System on Live Births / Lista de anomalías congénitas prioritarias para la vigilancia bajo el Sistema de Información sobre Nacimientos Vivos en Brasil / Lista de anomalias congênitas prioritárias para vigilância no âmbito do Sistema de Informações sobre Nascidos Vivos do Brasil

Objective: To define the list of priority congenital anomalies for improving the registration in the Brazilian Live Birth Information System (Sinasc). Methods: Based on International Classification of Diseases, Tenth Revision (ICD-10), internation protocols and meetings with specialists, the list of priority anomalies was built considering two main criteria: being diagnosable at birth and having intervention available at different levels. The list was submitted for consideration by the Brazilian Society of Medical Genetics and Genomics. Results: The list comprised eight groups of congenital anomalies distributed according to the type of anomaly related, as well as the affect body part, all of which were related to some code of chapter XVII of ICD-10. Conclusion: The list of priority congenital anomalies for notification provides subsidies for improving registration at Sinasc.

Objetivo: Definir a lista de anomalias congênitas prioritárias para o aprimoramento do registro no Sistema de Informações sobre Nascidos Vivos (Sinasc). Métodos: A partir da Décima Revisão da Classificação Estatística Internacional de Doenças e Problemas Relacionados à Saúde (CID-10), protocolos internacionais e reuniões com especialistas, a lista de anomalias prioritárias foi construída considerando-se dois critérios principais: ser diagnosticável ao nascimento; e possuir intervenção disponível em diferentes níveis. A lista foi submetida a apreciação da Sociedade Brasileira de Genética Médica e Genômica. Resultados: Compuseram a lista oito grupos de anomalias distribuídos de acordo com o tipo de anomalia relacionada, bem como a parte do corpo afetada e sua correspondência ao código do capítulo XVII da CID-10. Conclusão: A lista de anomalias congênitas prioritárias para notificação fornece subsídios para o aprimoramento do registro no Sinasc.

Lista de anomalias congênitas prioritárias para vigilância no âmbito do Sistema de Informações sobre Nascidos Vivos do Brasil / Lista de anomalías congénitas prioritarias para la vigilancia bajo el Sistema de Información sobre Nacidos Vivos en Brasil / List of priority congenital anomalies for surveillance under the Brazilian Live Birth Information System

Objetivo: Definir a lista de anomalias congênitas prioritárias para o aprimoramento do registro no Sistema de Informações sobre Nascidos Vivos (Sinasc). Métodos: A partir da Décima Revisão da Classificação Estatística Internacional de Doenças e Problemas Relacionados à Saúde (CID-10), protocolos internacionais e reuniões com especialistas, a lista de anomalias prioritárias foi construída considerando-se dois critérios principais: ser diagnosticável ao nascimento; e possuir intervenção disponível em diferentes níveis. A lista foi submetida a apreciação da Sociedade Brasileira de Genética Médica e Genômica. Resultados: Compuseram a lista oito grupos de anomalias congênitas distribuídos de acordo com o tipo de anomalia relacionada, bem como a parte do corpo afetada e sua correspondência ao código do capítulo XVII da CID-10. Conclusão: A lista de anomalias congênitas prioritárias para notificação fornece subsídios para o aprimoramento do registro no Sinasc.

Objetivo: Definir la lista de anomalías congénitas prioritarias para perfeccionar el registro en el Sistema de Información de Nacidos Vivos (Sinasc). Métodos: Con base en la Clasificación Internacional de Enfermedades, Décima Revisión (CIE-10), protocolos internacionales y reuniones con especialistas, la lista de anomalías prioritarias se construyó considerando dos criterios principales: ser diagnosticables al nacer y tener intervención disponible en diferentes niveles. La lista fue sometida a la consideración de la Sociedad Brasileña de Genética y Genómica Médica. Resultados: La lista comprendía ocho grupos de anomalías congénitas distribuidos según el tipo de anomalía relacionada, así como la parte del cuerpo afectada, todos ellos relacionados con algún código del capítulo XVII de la CIE-10. Conclusión: La lista de anomalías congénitas prioritarias para notificación proporciona subsidios para mejorar el registro en Sinasc.

Objective: To define the list of priority congenital anomalies for improving their recording on the Brazilian Live Birth Information System (Sinasc). Methods: Based on the International Statistical Classification of Diseases and Related Health Problems, Tenth Revision (ICD-10), international protocols and meetings with specialists, the list of priority anomalies was built considering two main criteria: being diagnosable at birth and having intervention available at different levels. The list was submitted for consideration by the Brazilian Medical Genetics and Genomics Society. Results: The list comprised eight groups of congenital anomalies distributed according to the type of related anomaly, as well as the affected part of the body and its corresponding code in ICD-10 Chapter XVII. Conclusion: The list of priority congenital anomalies for notification provides a basis for improving case recording on Sinasc.

Pancreas- and Pylorus-Preserving Duodenectomy for Advanced Familial Duodenal Polyposis.

Most patients with familial adenomatous polyposis (FAP) will develop duodenal polyps and 5% progress to cancer. Those with Spigelman stage IV have a 36% risk of cancer at 10 years. Endoscopic surveillance is necessary with local ablation for early disease. Unresectable duodenal disease and severe dysplasia are an indication for prophylactic radical surgery by pancreaticoduodenectomy or pancreas-sparing duodenectomy. Some preliminary results have shown better outcomes with duodenectomy. A 45-year-old female with FAP had restorative proctocolectomy at 24 years, desmoid of the mesentery with regression after sulindac, two pregnancies, and at the age of 37 years had duodenal polyposis stage III carpeting the periampullary region. Endoscopic papillectomy and extensive piecemeal mucosectomy was performed but was unsuccessful due to recurrence. After 7 years of regular endoscopic surveillance, focal high-grade dysplasia was diagnosed at the last evaluation. Some diminutive polyps were seen in the small-bowel capsule endoscopy. MRCP showed a normal biliary and pancreatic duct without visualization of the Santorini duct. A pancreas and pylorus-preserving duodenectomy was performed with 3 main steps: (1) duodenectomy with preservation of the pancreas and the pylorus; (2) reconstruction with an advanced jejunal limb and duodenojejunostomy; (3) reimplantation of the biliary and pancreatic duct in the jejunal loop. The patient was discharged on the 11th postoperative day without complications. In conclusion, pancreas- and pylorus-preserving duodenectomy is a promising alternative to pancreaticoduodenectomy for advanced duodenal polyposis that allows complete endoscopic surveillance.

A maioria dos doentes portadores de polipose adenomatosa familiar (FAP) vem a desenvolver pólipos duodenais que poderão degenerar em 5% dos casos. Os casos que apresentem um estádio IV de Spigelman têm um risco de degenerescência de 36% ao fim de 10 anos. É necessária vigilância endoscópica e excisão das lesões iniciais. Os pólipos considerados irressecáveis e com displasia de alto grau têm indicação para exérese cirúrgica radical através de duodenopancreatectomia ou de duodenectomia com conservação do pâncreas. Existem alguns resultados preliminares a revelar melhores resultados com a duodenectomia. Uma doente de 45 anos portadora de FAP efetuou proctocolectomia reconstrutiva aos 24 anos. Desenvolveu tumor desmoide mesentérico após um ano e que regrediu com sulindac, teve dois filhos e aos 37 anos apresentou polipose duodenal, em toalha periampular, com estádio III. Foi submetida a papilectomia endoscópica e mucosectomia fragmentada da lesão circundante tendose verificado recorrência. Durante 7 anos procedeu-se a vigilância endoscópica regular com presença de displasia de alto grau focal na última avaliação. Na cápsula endoscópica foram observados alguns pólipos diminutos no intestino delgado. A CPRM revelou normalidade nos canais pancreático e biliar, sem evidência do Santorini. Foi efetuada uma duodenectomia com conservação do pâncreas e do piloro cujos passos cirúrgicos principais foram: (a) duodenectomia com conservação do pâncreas e do piloro; (b) reconstrução com ansa jejunal e duodenojejunostomia; (c) reimplantação dos canais biliar e pancreático à ansa jejunal. A doente teve alta ao 11o dia pós-operatório sem complicaçõs. Em conclusão, a duodenectomia com conservação do pâncreas e do piloro constitui uma boa alternativa à duodenopancreatectomia permitindo vigilância endoscópica completa.

On the understanding of zinc-oxide eugenol cement use prior to etch-rinse bonding strategies.

CONTEXT: Zinc-oxide eugenol (ZOE) is frequently used due to its satisfactory biological response, sedative effect on the pulp, and easy removal. However, literature is very controversial about the influence of the temporary cement-containing eugenol on the bond strength properties. AIMS: This study aims to clarify the literature controversy by evaluating the bond strength of ZOE or ZOE-free applied before bonding procedures and the 7-day resting period after the first session. SETTINGS AND DESIGNS: Twelve recently extracted third molars were randomly divided into three groups: Group 1: Control (without treatment), Group 2: Temp-Bond NE; Group 3: Temp-Bond. SUBJECTS AND METHODS: After temporary restorations, the teeth were immersed in distilled water and stored for 7 days at 37°C. The temporary cement was mechanically removed, and prophylaxis was performed. The adhesive procedures were performed, and a 6-mm-high composite resin block was built. The teeth were immediately stored at 100% relative humidity at 37°C for 24 hours. Specimens with 0.7 (±0.2) mm2 of cross-sectional area were obtained and subjected to a microtensile bond strength (µTBS) test at 1 mm/min until failure. STATISTICAL ANALYSIS USED: Analysis of variance (ANOVA) and Tukey's post hoc test were used for statistical analysis. RESULTS: ZOE or ZOE-free cement did not interfere in the µTBS between resin composite and dentine when used with a two-step-etch-rinse adhesive material, considering 7 days of resting period after the first session, by the ANOVA and Tukey's post hoc test (P < 0.05). CONCLUSIONS: The authors recommend the removal of the temporary cementation at least seven days after the first session and suggest that the clinicians follow-up further studies to use the cement in case its removal is recommended within a longer period.

Preoperative Enteral Nutrition and Surgical Outcomes in Adults with Crohn's Disease: A Systematic Review.

BACKGROUND AND AIM: Enteral nutrition (EN) is applicable to adult Crohn's disease (CD) in treating malnutrition and in inducing remission - here as a less effective alternative than corticosteroids. The purpose of this review is to determine whether preoperative EN impacts postoperative complications of adult CD, either by means of nutritional or therapeutic effects. SUMMARY: A systematic review of English written full-text research articles published between January 1990 and November 2017, including adult patients undergoing abdominal surgery for complicated CD after EN, was performed. Four studies out of 22 were selected, all of which institutional, retrospective, case-control cohorts, one classified as "good quality" and three as "poor quality," as rated by the Newcastle-Ottawa Scale. The application of inclusion and exclusion criteria resulted in a non-intentional absence of studies referring to supplemental EN among those reviewed. The reduced number of heterogeneous eligible studies impeded meta-analysis. In all studies, exclusive EN (EEN) was used and well tolerated, allowing to defer or even avoid surgery altogether, improving patients' global state. The two studies with the greatest number of patients found preoperative EEN to be an independent factor against infectious and non-infectious complications in 219 patients and against anastomotic leaks or abscesses in 38 patients. Also, in univariate analysis, EEN was found to increase preop-erative immunosuppressant-free intervals and to protect against anastomotic dehiscences, intra-abdominal abscesses, surgical wound infections, ileus, stomas, and reoperations in the largest study; in another study it was related to fewer intra-abdominal septic complications. KEY MESSAGES: All reviewed studies are retrospective and, consequently, of limited relevance. Nonetheless, all of them call the attention of the scientific community to the potential benefits of preoperative EEN on postoperative outcomes in adult CD, calling for prospective multi-institutional studies and randomized controlled trials.

INTRODUÇÃO E OBJETIVO: No adulto com doença de Crohn (DC) a nutrição entérica (NE) é aplicável como terapáutica da desnutrição ou como alternativa, menos eficaz, aos corticoides, para indução de remissão. O objetivo desta revisão é determinar se a NE pré-operatória tem impacto nas complicações pós-operatórias, seja pelo efeito nutricional seja pelo terapáutico. SUMÁRIO: Foi realizada uma revisão sistemática dos artigos de investigação que incluíssem doentes adultos submetidos a cirurgia abdominal por DC complicada, após NE, redigidos em inglás e publicados entre janeiro de 1990 e novembro de 2017. De 22 estudos foram selecionados quatro institucionais e retrospetivos de coorte, um de "fraca qualidade" e trás de "pobre qualidade" pela "Newcastle-Ottawa Scale". Nos estudos revistos foi utilizada NE exclusiva (NEE) já que, não intencionalmente, os estudos com NE suplementar reuniram critérios de exclusão. O pequeno número e a heterogeneidade dos estudos elegíveis impossibilitaram uma meta-análise. A NEE foi utilizada e bem tolerada em todos os estudos, e permitiu melhorar o estado global dos doentes e protelar ou mesmo evitar a cirurgia. Nos dois estudos com maior número de doentes, a NEE pré-operatória foi um fator independente contra deiscáncias de sutura e abcessos em 219 doentes, e contra complicações infeciosas intra-abdominais em 38. Em análise univariada também se verificou que, no maior estudo, a NEE aumentou o intervalo pré-operatório livre de imunossupressores e foi protetora contra deiscáncias anastomóticas, abscessos intra-abdominais, infeções da ferida operatória, ileus, estomas e reoperações; noutro estudo menores correlacionou-se com menos complicações infeciosas intra-ab abdominais. MENSAGENS-CHAVE: Todos os estudos revistos são retrospetivos e, consequentemente, de relevância limitada. No entanto, todos chamam a atenção da comunidade científica para os potenciais benefícios da NEE préoperatória nos resultados pós-operatórios dos adultos com DC e para a necessidade de estudos prospetivos multi-institucionais e de ensaios clínicos randomizados.

A 46,XX testicular disorder of sex development caused by a Wilms' tumour Factor-1 (WT1) pathogenic variant.

Molecular diagnosis is rarely established in 46,XX testicular (T) disorder of sex development (DSD) individuals with atypical genitalia. The Wilms' tumour factor-1 (WT1) gene is involved in early gonadal development in both sexes. Classically, WT1 deleterious variants are associated with 46,XY disorders of sex development (DSD) because of gonadal dysgenesis. We report a novel frameshift WT1 variant identified in an SRY-negative 46,XX testicular DSD girl born with atypical genitalia. Target massively parallel sequencing involving DSD-related genes identified a novel heterozygous WT1 c.1453_1456del; p.Arg485Glyfs*14 variant located in the fourth zinc finger of the protein which is absent in the population databases. Segregation analysis and microsatellite analysis confirmed the de novo status of the variant that is predicted to be deleterious by in silico tools and to increase WT1 target activation in crystallographic model. This novel and predicted activating frameshift WT1 variant leading to the 46,XX testicular DSD phenotype includes the fourth zinc-finger DNA-binding domain defects in the genetic aetiology of 46,XX DSD.

Mapeamento e distribuição de Hydrochoerus hydrochaeris (LINNAEUS, 1766) nos parques públicos de Curitiba-PR / Mapping and distribution of Hydrochoerus hydrochaeris (LINNAEUS, 1766) in the public parks of Curitiba, Paraná / Mapeamiento y distribución de Hydrochoerus hydrochaeris (LINNAEUS, 1766) en los parques públicos de Curitiba-PR

Tendo em vista a presença constante de capivaras em ambientes urbanos brasileiros, esse estudo desenvolveu-se com o objetivo de mapear a ocorrência e distribuição de Hydrochoerus hydrochaeris nas áreas verdes públicas da capital do estado do Paraná. No período de agosto de 2013 a julho de 2015 bosques e parques foram inspecionados em busca da presença e dos vestígios da espécie. Mapas de cobertura do solo das áreas de ocorrência foram confeccionados a partir de dados vetoriais e imagens de satélite, nesses foram plotados os registros de presença e vestígios. Realizaram-se também censos anuais nas áreas onde o mamífero foi visualizado. A partir disso, verificou-se que as capivaras utilizam 14 parques de Curitiba e, que em quatro desses a quantidade de animais é superior ao dos demais parques do município.(AU)

Due to the constant presence of capybaras in Brazilian urban environments, this study was developed with the objective of mapping the occurrence of Hydrochoerus hydrochaeris in public green areas of the capital city of the state of Paraná. In the period from August 2013 to July 2015, forests and parks were inspected in search of the presence and evidence of the species. Soil cover maps of the areas of incidence were drawn from vector data and satellite images, in which the presence and trace records were plotted. Annual censuses were also carried out in the areas where the mammals were sighted. As a result, it could be verified that capybaras use 14 parks in Curitiba and that in four of them the number of animals is higher than in the other parks of the city.(AU)

En vista la presencia constante de carpinchos en ambientes urbanos brasileños, ese estudio se desarrolló con el objetivo de mapear la ocurrencia y distribución de Hydrochoerus hydrochaeris en áreas verdes públicas de la capital del estado de Paraná. En el período de agosto de 2013 a julio de 2015, bosques y parques fueron inspeccionados en busca de presencia y de vestigios de la especie. Mapas de cobertura del suelo de las áreas de ocurrencia fueron confeccionados a partir de datos vectoriales e imágenes de satélite, en los cuales fueron trazados los registros de presencia y vestigios. Se realizaron también censos anuales en las áreas donde el mamífero fue visualizado. A partir de eso, se verificó que los carpinchos utilizan 14 parques de Curitiba y que en cuatro de ellos la cantidad de animales es superior al de los demás parques del municipio.(AU)

Myeloid sarcoma of the small intestine in a patient without overt acute myeloid leukaemia: a challenging diagnosis of a rare condition.

Myeloid sarcoma (MS) is a rare condition that most commonly occurs in the setting of acute myeloidleukaemia (AML) or other chronic myeloproliferative disorders. It presents as an abnormal growth that can develop anywhere in the human body, and its clinical manifestations are often non-specific.We present the case of a patient admitted to the emergency room with bowel obstruction. After careful clinical assessment, she underwent a right hemicolectomy. After a thorough examination of the surgical pathology specimen, including testing a wide array of immunohistochemical markers, the patient was timely diagnosed with MS, allowing for the implementation of the appropriate treatment to achieve complete remission. This is crucial, since non-leukaemic patients with untreated MS always progress to AML, and have a better prognosis if adequate therapy is implemented early. Our patient is now in the second postoperative year and shows no signs of relapse.

Cytogenomic Integrative Network Analysis of the Critical Region Associated with Wolf-Hirschhorn Syndrome.

Deletions in the 4p16.3 region are associated with Wolf-Hirschhorn syndrome (WHS), a contiguous gene deletion syndrome involving variable size deletions. In this study, we perform a cytogenomic integrative analysis combining classical cytogenetic methods, fluorescence in situ hybridization (FISH), chromosomal microarray analysis (CMA), and systems biology strategies, to establish the cytogenomic profile involving the 4p16.3 critical region and suggest WHS-related intracellular cell signaling cascades. The cytogenetic and clinical patient profiles were evaluated. We characterized 12 terminal deletions, one interstitial deletion, two ring chromosomes, and one classical translocation 4;8. CMA allowed delineation of the deletions, which ranged from 3.7 to 25.6 Mb with breakpoints from 4p16.3 to 4p15.33. Furthermore, the smallest region of overlapping (SRO) encompassed seven genes in a terminal region of 330 kb in the 4p16.3 region, suggesting a region of susceptibility to convulsions and microcephaly. Therefore, molecular interaction networks and topological analysis were performed to understand these WHS-related symptoms. Our results suggest that specific cell signaling pathways including dopamine receptor, NAD+ nucleosidase activity, and fibroblast growth factor-activated receptor activity are associated with the diverse pathological WHS phenotypes and their symptoms. Additionally, we identified 29 hub-bottlenecks (H-B) nodes with a major role in WHS.

Controversies on Timing of Sex Assignment and Surgery in Individuals With Disorders of Sex Development: A Perspective.

Appropriate management of disorders of sex development (DSD) has been a matter of discussion since the first guidelines were published in the 1950s. In the last decade, with the advent of the 2006 consensus, the classical methods, especially regarding timing of surgery and sex of rearing, are being questioned. In our culture, parents of DSD newborns usually want their children to undergo genital surgery as soon as possible after sexual assignment, as surgery helps them to confirm the assigned sex. Developmental psychology theories back this hypothesis. They state that anatomic differences between sexes initiate the very important process of identification with the parent of the same sex. Sex-related endocrinological issues also demand early care. For example, using dihydrotestosterone cream to increase penile length or growth hormone treatment to improve final height require intervention at young ages to obtain better results. Although the timing of surgery remains controversial, recent evidence suggests that male reconstruction should be performed between 6 and 18 months of age. Feminizing surgery is still somewhat controversial. Most guidelines agree that severe virilization requires surgical intervention, while no consensus exists regarding mild cases. Our perspective is that precocious binary sex assignment and early surgery is a better management method. There is no strong evidence for delays and the consequences can be catastrophic in adulthood.

Locally advanced adenocarcinoma of the rectum presenting with necrotising fasciitis of the perineum: successful management with early aggressive surgery and multimodal therapy.

Colorectal cancer is a common malignant neoplasm and its treatment usually involves surgery associated, in some cases, depending on the staging, with chemoradiotherapy. Necrotising fasciitis of the perineum is a highly lethal infection of the perineum, perirectal tissues and genitals, requiring emergency surgical debridement, broad-spectrum antibiotics and control of sepsis. We present the case of a 59-year-old man with necrotising fasciitis of the perineum as the first clinical manifestation of locally advanced adenocarcinoma of the rectum, in which successful management consisted of early and aggressive surgical debridement, followed by multimodal therapy with curative intent. 2 years and 6 months after surgery the patient is well, with no evidence of local or systemic relapse.

Root anomalies and dentin dysplasia in autosomal recessive hyperphosphatemic familial tumoral calcinosis (HFTC).

Hyperphosphatemic familial tumoral calcinosis (HFTC, OMIM #211900) is an autosomal recessive metabolic disorder characterized by hyperphosphatemia, tooth root defects, and the progressive deposition of calcium phosphate crystals in periarticular spaces, soft tissues, and sometimes bone.(1) In this HFTC case report, we document the dental phenotype associated with a homozygous missense mutation (g.29077 C>T; c.484 C>T; p.Arg162*) in GALNT3 (OMIM 6017563), a gene encoding UDP-GalNAc transferase 3 that catalyzes the first step of O-linked oligosaccharide biosynthesis in the Golgi. The medical and dental pathology is believed to be caused primarily by high serum phosphate levels (hyperphosphatemia), which, in turn, is caused by failure of GALNT3 to glycosylate the phosphate regulator protein FGF23, impairing its ability inhibit reabsorption of filtered phosphate in the kidneys.

Clinical and molecular characterization of a Brazilian cohort of campomelic dysplasia patients, and identification of seven new SOX9 mutations.

Campomelic dysplasia (CD) is an autosomal, dominantly inherited, skeletal abnormality belonging to the subgroup of bent bone dysplasias. In addition to bowed lower limbs, CD typically includes the following: disproportionate short stature, flat face, micrognathia, cleft palate, bell-shaped thorax, and club feet. Up to three quarters of 46, XY individuals may be sex-reversed. Radiological signs include scapular and pubic hypoplasia, narrow iliac wings, spaced ischia, and bowed femora and tibiae. Lethal CD is usually due to heterozygous mutations in SOX9, a major regulator of chondrocytic development. We present a detailed clinical and molecular characterization of nine Brazilian CD patients. Infants were either stillborn (n = 2) or died shortly after birth and presented similar phenotypes. Sex-reversal was observed in one of three chromosomally male patients. Sequencing of SOX9 revealed new heterozygous mutations in seven individuals. Six patients had mutations that resulted in premature transcriptional termination, while one infant had a single-nucleotide substitution at the conserved splice-site acceptor of intron 1. No clear genotype-phenotype correlations were observed. This study highlights the diversity of SOX9 mutations leading to lethal CD, and expands the group of known genetic alterations associated with this skeletal dysplasia.