Prevalence and clinical characterization of oral clefts in patients with chromosome trisomy 18 / Prevalência e caracterização clínica de fendas orais em pacientes com trissomia do cromossomo 18

ABSTRACT Objective: To verify the prevalence and perform the clinical characterization of oral clefts in a sample of patients with trisomy of chromosome 18 in Southern Brazil. Methods: This was a retrospective cross-sectional study, performed in a reference clinical genetic service in Southern Brazil. The initial sample consisted of 77 patients diagnosed in the neonatal period with trisomy 18 treated at the Clinical Genetics Service of a referral hospital at Federal University of Health Sciences of Porto Alegre (UFCSPA). The patients' diagnosis was confirmed by karyotype and care was provided during their stay in the intensive care unit (ICU) of the hospital that is a reference in Southern Brazil for care for malformed patients. The period covered was from 1975 to 2020. Results: During the study period, 77 patients diagnosed with trisomy 18 were treated, most of them in the ICU. Of these, 13 individuals were excluded due to incomplete data. The final sample consisted of 64 patients with an average age of 2.4 years of life, ranging from one day to 16 years old, the majority of whom were female. Regarding face dysmorphisms identified in the sample, three (4,68%) patients had cleft lip and two (3,11%) had cleft lip and palate. Conclusions: This study contributed to the recognition of the characteristics and prevalence of oral clefts in individuals with trisomy 18 in a sample of patients from Southern Brazil. In addition, we described the clinical alterations found in patients with oral clefts, as well as other associated comorbidities, such as cardiac, neurological and pulmonary comorbidities, as well as cranial and facial dysmorphisms.

RESUMO Objetivo: Verificar a prevalência e realizar a caracterização clínica das fissuras orais em uma amostra de pacientes com trissomia do cromossomo 18 no sul do Brasil. Métodos: Este foi um estudo transversal retrospectivo, realizado em um serviço de referência em genética clínica do sul do Brasil. A amostra inicial foi composta de 77 pacientes com diagnóstico no período neonatal de trissomia 18 atendidos no Serviço de Genética Clínica da Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA). O diagnóstico dos pacientes foi confirmado por cariótipo e os atendimentos foram realizados durante sua internação na unidade de terapia intensiva (UTI) de hospital de referência no sul do Brasil para atendimento em pacientes malformados. O período abrangido foi de 1975 a 2020. Resultados: Durante o período do estudo foram atendidos, a maioria na UTI do hospital, 77 pacientes com diagnóstico de trissomia do cromossomo 18. Destes, 13 indivíduos foram excluídos por apresentarem dados incompletos. A amostra final foi de 64 pacientes, com idade média de 2,4 anos de vida, variando de um dia de vida a 16 anos, a maioria do sexo feminino. Com relação aos dismorfismos faciais identificados na amostra, três (4,68%) pacientes apresentavam fissuras labiais e dois (3,11%) fissuras labiopalatinas. Conclusões: Este estudo trouxe como contribuições o reconhecimento das características e a prevalência das fendas orais nos indivíduos com trissomia do cromossomo 18 em uma amostra de pacientes do sul do Brasil. Além disso, descrevemos as alterações clínicas encontradas em pacientes com fissuras orais, bem como outras comorbidades associadas, como comorbidades cardíacas, neurológicas e pulmonares, além de dismorfismos cranianos e faciais.

Conducta médica frente al diagnóstico prenatal de trisomía 18: ¿se aproxima un cambio de paradigma?

El objetivo del trabajo es analizar dos conductas médicas opuestas en la vida prenatal de los niños con trisomía 18: el aborto y los cuidados paliativos perinatales. Se realizó una búsqueda bibliográfica en PubMed a partir de los términos "trisomy 18", "abortion" y "palliative care". Actualmente, están cambiando las conductas médicas dirigidas a los niños nacidos con trisomía 18, debido a que ya no se la considera una enfermedad incompatible con la vida. Este cambio de paradigma en la conducta médica posnatal debería reflejarse en la conducta prenatal, para ofrecer a los padres alternativas distintas al aborto. Los cuidados paliativos fetales y perinatales constituyen una respuesta ética válida para el tratamiento de niños con trisomía 18.

This article intends to analyze two opposing medical behaviors in the prenatal life of children with trisomy 18: abortion and perinatal palliative care. A literature search was carried out in PubMed using the terms "trisomy 18," "abortion," and "palliative care." Medical behaviors toward children born with trisomy 18 are changing because it is no longer considered a disease incompatible with life. This paradigm shift in postnatal medical conduct should be reflected in prenatal behavior to offer parents alternatives to abortion. Fetal and perinatal palliative care is a valid ethical response for treating children with trisomy 18.

O objetivo deste trabalho é analisar duas condutas médicas opostas na vida pré-natal das crianças com trissomia 18: o aborto e os cuidados paliativos perinatais. Foi realizada uma busca bibliográfica no PubMed a partir dos termos "trisomy 18", "abortion" e "palliative care". Atualmente, as condutas médicas para com as crianças nascidas com trissomia 18 estão mudando devido a não ser considerada mais como uma doença incompatível com a vida. Essa mudança de paradigma na conduta médica pós-natal deveria ser refletida na conduta pré-natal, para oferecer aos pais alternativas diferentes do aborto. Os cuidados paliativos fetais e perinatais constituem uma resposta ética válida para tratar crianças com trissomia 18.

Analysis of the implementation of health impact assessment of public policies in Zhejiang province / 中华医院管理杂志

The policy implementation model of G. C. Edwards was used to analyze the public policy health impact assessment in Zhejiang province, and summarize its practice and existing problems in four aspects of policy implementation standards, policy resources, policy executors′ intention and management organization structure, so as to provide reference for promoting the national health impact assessment pilot work. The analysis results showed that Zhejiang province has initially established the public policy health impact assessment mechanism and achieved phased results, but there were still some problems, including the imperfection of policy content and implementation strategy, the inadequacy of leadership decision-making and top-level design, the difference in attitude, understanding and implementation preference of policy implementation subjects, and the ambiguity of the authority and responsibility system of each department in cooperation. In order to further promote the smooth development of public policy health impact assessment, Zhejiang province should actively promote the top-level design to strengthen policy support, integrate and optimize policy resources, gradually establish and improve the health governance mechanism of multiple and overall coordination, and promote the high-quality development of public policy health impact assessment by taking cross departmental cooperation as the path of health co-construction.

Síndrome de Edwards: desde el diagnóstico prenatal hasta el neonatólogo

RESUMEN El síndrome de Edwards o síndrome de trisomía 18 es un trastorno cromosómico autosómico que se caracteriza por la presencia de un cromosoma 18 extra, con rasgos clínicos distintivos. Se presenta un caso con diagnóstico prenatal basados en la ecografía morfológica obstétrica que condujeron a la realización ecocardiografía fetal donde resalta la displasia de la válvula pulmonar con doble lesión y la comunicación interventricular. Posteriormente se realiza cordocentesis para realización del cariotipo y asesoramiento genético.

ABSTRACT Edwards' syndrome, or trisomy 18 syndrome, is an autosomal chromosomal disorder characterized by the presence of an extra chromosome 18, with distinctive clinical features. We present a case with a prenatal diagnosis based on obstetrical morphological ultrasound that led to the performance of a fetal echocardiography with findings of a pulmonary valve dysplasia with double injury and interventricular communication. Subsequently, cordocentesis is performed for karyotyping and genetic counseling.

Síndrome de trisomía 18: informe de un caso clínico / Trisomy 18 syndrome: a case report

Antecedentes: El Síndrome de Edwards o trisomía 18, es una anomalía cromosómica o aneuploidía caracterizada por la presencia de una copia adicional del cromosoma 18. Se asocia con una alta tasa de mortalidad, siendo muy escasas las probabilidades de supervivencia más allá de las semanas o del año de edad. Sin embargo, existen casos que llegan a sobrevivir más tiempo, pero con retraso mental severo, problemas de salud y de desarrollo, y por ende una calidad de vida muy baja. En este artículo se informa un caso de trisomía 18 de larga sobrevida con el propósito de aportar información sobre la etiología, el fenotipo, la sobrevida y el consejo genético. Descripción de Caso: Paciente de sexo femenino nacida en 2010 con un cariotipo realizado en 20 células que mostraron 47,XX+18 en todas las metafases. Con talla y peso bajos para su edad, facies dismórficas, retardo severo del desarrollo psicomotor y cognitivo, imposibilidad para alimentarse, ausencia de lenguaje verbal y sordera neurosensorial. Conclusión: El conocimiento de las manifestaciones clínicas y el pronóstico del paciente con trisomía 18 es de gran importancia para el cuidado neonatal y la toma de decisiones para realizar procedimientos invasivos, como cirugía de corazón o resucitación cardiopulmonar. El diagnóstico temprano es importante para la toma de decisiones médicas...(AU)

Comparison of Implantability, Early Post-Operative Valve Function and Structural Valve Deterioration between the Carpentier-Edward Perimount Magna Valve and St. Jude Medical Trifecta Valve / 日本心臓血管外科学会雑誌

Purpose : Easy and safe implantability, good post-operative valve function and good long-term durability are required for any bioprosthetic valve implanted in aortic position. The Carpentier Edwards Perimount Magna valve (Magna) was introduced in 2009 and the St. Jude Medical Trifecta valve (Trifecta) was introduced in 2012 to our institution. In this study, we compared implantability, early post-operative valve function and structural valve deterioration (SVD) between these two valves. Patients and Methods : Between January 2009 and December 2019, Magna or Trifecta were electively implanted for 254 patients (Magna 151 patients and Trifecta 103 patients) and these patients were included in this study. Implantability was evaluated by occurrence of intraoperative valve dysfunction. Early post-operative valve function was evaluated by mean pressure gradient (m-PG) and indexed aortic valve area (AVAI) by ultrasonography performed 10 days after surgery. The relationship between indexed bioprosthetic valve orifice area calculated from internal diameter (GOAI) and AVAI was evaluated. If there was a significant relationship between GOAI and AVAI, maximum body surface area (BSA) to obtain AVAI≥0.85 cm2/m2 was estimated from 99% reliable interval of regression line. Results : Age, gender, and BSA did not differ between the two groups. There was no intraoperative valve dysfunction in Magna ; however we experienced one patient with severe aortic regurgitation due to stent distortion by the aortic wall during surgery with the 25 mm Trifecta valve. For this patient, Trifecta was replaced with Magna intra-operatively. In the 19 mm valve, AVAI was significantly larger (1.12±0.27 cm2/m2 vs. 0.88±0.21 cm2/m2, p<0.001) and m-PG was significantly lower (8.7±2.7 mmHg vs. 17.2±6.3 mmHg, p<0.001) in Trifecta. The frequency of AVAI<0.85 cm2/m2 (24% vs. 49%, p=0.036) and the frequency of m-PG≥20 mmHg (0% vs. 26%, p=0.006) were significantly less in Trifecta. There was significant relationship between GOAI and AVAI in both valves. Maximum BSA to obtain AVAI ≥0.85 cm2/m2 was estimated as 1.35 m2 in Magna and 1.50 m2 in Trifecta. In the 21 mm valve, AVAI was significantly larger (1.14±0.23 cm2/m2 vs. 0.92±0.22 cm2/m2, p<0.001) and m-PG was significantly lower (7.8±3.2 mmHg vs. 14.6±4.7 mmHg, p<0.001) in Trifecta. The frequency of AVAI<0.85 cm2/m2 was significantly less in Trifecta (11% vs. 42%, p=0.002) ; however, the frequency of m-PG≥20 mmHg did not differ significantly. There was a significant relationship between GOAI and AVAI in Magna and Trifecta. Maximum BSA to obtain AVAI ≥0.85 cm2/m2 was estimated as 1.49 m2 in Magna and 1.70 m2 in Trifecta. In the 23 and 25 mm valves, AVAI was significantly larger and m-PG was significantly lower in Trifecta. However neither the frequency of AVAI<0.85 cm2/m2 nor m-PG≥20 mmHg differed between the two valves. There was one early (27 months after surgery) SVD due to leaflet tear in Trifecta and two SVDs due to leaflet calcification more than 10 years after surgery in Magna. Conclusion : For Trifecta implantation, valve size selection seemed to be important and larger valves should be avoided with narrow ST junctions. Selection of 19 and 21 mm Magna valves should be limited for the patient with a BSA less than 1.35 and 1.49 m2 respectively. In Trifecta, early SVD might occur and careful follow-up is necessary.

Policy analysis for countywide medical communities in the policy model of G. C. Edwards / 中华医院管理杂志

The policy model of G. C. Edwards was used to study the policies on building a countywide medical community ( CMC), and identify problems in such aspects as policy communication, resources, disposition and bureaucratic structure. The analysis found that enriching health resources at primary level and powerful government support are creating ideal environment for the construction of CMC. But due to its preliminary development, rooms of improvement of its policy design, and unclear enforcement standards, there appear behavioral polarizations at local health authorities. For example, some are proactive to explore and accumulate rich experiences, while the most take a wait and see stand, or even take administrative means to cope with their authorities by forming medical communities in form only. A small part of county hospitals, thanks to support from the government and inherent conditions, take active measures in this direction as policy frontrunners. On the other hand, most county hospitals prefer to be policy followers in order to avoid cost and risks of the reform. In the worst cases, a few county hospitals have become free riders of the policy, and attempt to take advantages of their primary health institutions. Primary health institutions warmly embrace CMC, but their limited service capability constitutes roadblocks in CMC construction. What is more, poor communication and collaboration mechanisms among systems and authorities hinder the effective policy synergy and health service integration of CMS.

A Case of Aortic Valve Re-replacement for Starr-Edwards Ball Valve 45 Years after Implantation / 日本心臓血管外科学会雑誌

This patient is a 72-year-old-man who had undergone aortic valve replacement using a Starr-Edwards Ball Valve to treat aortic valve stenosis when he was 28 years old. In April 2015, he was admitted with cardiac failure of NYHA III. Echocardiography showed a remarkable increase of aortic valve pressure gradient and progressive change in mitral valve stenosis and tricuspid valve regurgitation. The Starr-Edwards Ball Valve was replaced using a CEP MAGNA EASE prosthesis, the mitral valve was replaced using a CEP MAGNA MITRAL EASE prosthesis with tricuspid annuloplasty using the MC3 ring. Cloth wear of the Starr-Edwards Ball Valve cage and all-round pannus formation under the valve seat was found at the operation, and the cause of the higher pressure gradient may have been the pannus. The postoperative period of this case following the initial aortic valve implantation of the Starr-Edwards Ball Valve is the longest known in Japan as far as we could discover.

La articulación de las ciencias sociales en la obra de la Salas Edwards: Balmaceda y el Parlamentarismo en Chile, un Estudio de Psicología Política Chilena / The articulation of social sciences in thework of the Salas Edwards: Balmaceda y el Parlamentarismo en Chile, un Estudio de Psicología Política Chilena / A articulação das ciencias sociais na obra de Salas Edwards: Balmaceda y el Parlamentarismo en Chile, un Estudio de Psicología Política Chilena / L'articulation des sciences sociales dans les travaux de Salas Edwards: Balmaceda y el Parlamentarismo en Chile, un Estudio de Psicología Política Chilena"

La obra Balmaceda y el Parlamentarismo en Chile, un Estudio de Psicología Política Chilena de Ricardo Salas Edwards de 1914, es considerado como un texto fundacional de la psicología política en Chile. Una de las premisas de este planteamiento hace referencia a la interdisciplinariedad de las ciencias sociales como carácter epistemológico de la psicología política. En este sentido, se plantea que Salas desarrolló una articulación entre las disciplinas de las ciencias sociales de inicios del siglo XX, para narrar sobre uno de los episodios más importantes de la historia de Chile: el Conflicto Político - Militar de 1891. Este artículo aborda una de las perspectivas del origen de la psicología política chilena: la interdisciplinariedad de las ciencias sociales.

The work Balmaceda y el Parlamentarismo en Chile, un Estudio de Psicología Política Chilena by Ricardo Salas Edwards of 1914, is considered as a founding text of political psychology in Chile. One of the premises of this approach refers to the interdisciplinarity of the social sciences as an epistemological character of political psychology. In this sense, it is stated that Salas developed an articulation between the disciplines of the social sciences of the early twentieth century, to narrate about one of the most important episodes in the history of Chile: the Political - Military Conflict of 1891. This article addresses one of the perspectives of the origin of Chilean political psychology: the inter-disciplinarity of the social sciences.

O trabalho Balmaceda y el Parlamentarismo en Chile, un Estudio de Psicología Política Chilena, de Ricardo Salas Edwards, de 1914, é considerado um texto fundador da psicologia política no Chile. Uma das premissas dessa abordagem refere-se à interdisciplinaridade das ciências sociais como um caráter epistemológico da psicologia política. Nesse sentido, afirma-se que Salas desenvolveu uma articulação entre as disciplinas das ciências sociais do início do século XX, para narrar um dos mais importantes episódios da história do Chile: o Conflito Político-Militar de 1891. Este artigo trata de uma das perspectivas da origem da psicologia política chilena: a interdisciplinaridade das ciências sociais.

L'ouvrage Balmaceda y el Parlamentarismo en Chile, un Estudio de Psicología Política Chilena de Ricardo Salas Edwards de 1914, est considéré comme un texte fondateur de la psychologie politique au Chili. L'une des prémisses de cette aproche faitréférence à l'interdisciplinarité des sciences sociales en tant que caractère épistémologique de la psychologie politique. En ce sens, ilest indiqué que Salas a développé une articulation entre les disciplines des sciences sociales du début du XX esiècle, afin de raconterl'un des épisodes les plus importants de l'histoire du Chili: le conflit politico-militaire de 1891. Une des perspectives de l'origine de la psychologie politique chilienne: l'interdisciplinarité des sciences sociales.

Research summary of Mongolian medicine Trogopterus xanthipes Milne-Edwards / Монголын эм зүй, эм судлал

Background@#Trogopterus xanthipes Milne-Edwards (Hadan hailmal) is defecation of Olbo mouse with red and yellow foot in Olbo mouse family. Trogopterus xanthipes Milne-Edwards has bitter and little sweety flavor and cool and sharp quality and it has effects such as to remove hot, to stop pain and to to make urinate etc.@*Purpose@#To summarize chemical compounds, pharmacological effects, clinical usage and ancient source notes of Trogopterus xanthipes Milne-Edwards. @*Method@#Вy analys method to analyzed research articlest and ancient source of Trogopterus xanthipes Milne-Edwards in China Biological Medical Digest Data-base, Chinese Journals Full Text Data-base and ancient sources of Mongolian traditional medicine.@*Results and Conclusions@#Trogopterus xanthipes Milne-Edwards is produced juice from gold, silver, copper, iron, lead and tin on cliff during 4 to 6 months and otherwise Trogopterus xanthipes Milne-Edwards is called defecation of olbo mouse. It has many activity chemical compounds, such as nitrogen compound, volatile compound, Triterpenoid, fatty acid, flavone, and microelement and has many pharmacological effects such as anti gastric ulcer, anti inflammation, anti oxidant, anti cerebral ischemic injury, anti cytotoxicity and to improve immunology. In Mongolian traditional medicine, Trogopterus xanthipes Milne-Edwards mainly used to treat hot disease of stomach, liver and kidney, synovial disease, gout and rheumatism etc with single medicine and compound recipe ingredients of Trogopterus xanthipes Milne-Edwards. In Chinese medicine used to treat disease of digestive system and to stop pain etc.

Pregnancy outcomes among women with high and low risk in first and second trimester prenatal screening analysis / 预防医学

Objective To analyze adverse pregnancy outcomes among women with high risk and low risk during prenatal screening. Methods Clinical data of 180006 pregnancies in 5 prenatal screening center in Hangzhou were collected. We compared the adverse pregnancy outcomes of high and low risk pregnancies. Results Among 180006 pregnancies (age<35 years old), there were 10296 high-risk cases and 169710 low-risk cases, with 168654 cases followed. There were 9406 high-risk cases of Down's syndrome (DS) (5.23％), 273 high-risk cases of Edwards' syndrome (ES) (0.15％) and 617 high-risk cases of open neural tube defect (ONTD) (0.34％) . The detection rate of pregnancy outcome of premature birth, spontaneous abortion, termination of pregnancy, stillbirth in the high risk was 5.46％, 0.80％, 1.80％, 0.37％, respectively, and that rate in low risk results was 3.50％, 0.21％, 0.38％, 0.18％, respectively. Adverse pregnancy outcomes in high-risk group were significantly higher than that in low-risk group (all P<0.001) . The actual incidence rate of DS, ES or ONTD in high-risk group (4.56‰, 1.65‰, 0.97‰, respectively) were significantly higher than that in low-risk group (0.12‰, 0.04‰, 0.09‰, respectively, all P<0.001) . The detection rates of prenatal screening were 70.15％, 68.00％ and 38.46％, and false positive rates were 5.23％ , 0.14％ and 0.34％ . Conclusion High risk of serum prenatal screening analysis is associated with adverse pregnancy outcomes. The number of pregnancies experienced invasive prenatal diagnosis can be reduced by routine serum prenatal screening. That is an Effective method to reduce the birth defects.

Pancreatic hamartoma in a premature Trisomy 18 female

Pancreatic hamartomas are extremely rare tumors in adults and even more so in children. They are lesions characterized by acinar, islet and ductal components found in varying proportions and in a disorganized pattern. We report a case of a premature female with trisomy 18 diagnosed by amniocentesis. The newborn was delivered by cesarean section at thirty-three weeks of gestation and expired within one hour of birth. Postmortem examination exhibited numerous features associated with Trisomy 18 including lanugo on the torso and arms, micrognathia, microstomia, left low-set ear with small flat pinna, closed ear canal, clenched fists with overlapping fingers, rocker-bottom feet, narrow pelvis, large right diaphragmatic hernia and left pulmonary hypoplasia. Microscopic examination of the pancreas revealed an area, 1.2 cm in greatest dimension, with branching ducts and cysts lined by cuboidal epithelium intermingled within primitive mesenchymal proliferation and exocrine glands. The cysts measured up to 0.2 cm and were surrounded by a collarette of proliferating spindle cells as highlighted by Masson's trichrome stain. A diagnosis of pancreatic hamartoma was rendered. A total of thirty-four cases of pancreatic hamartomas have been reported in the literature including twenty-seven in adults, five in children and two in newborns. Our case may be the third pancreatic hamartoma reported in association with Trisomy 18. We recommend that careful examination of the pancreas be performed in individuals with Trisomy 18 to further characterize this lesion as one of the possible abnormal findings associated with this syndrome.

Síndrome de trisomía 18: reporte de un caso clínico / Trisomy 18 syndrome: a case report

Introducción El síndrome de trisomía 18 (T18) ocurre por la presencia de un cromosoma 18 extra completo en la mayoría de los casos. La prevalencia en recién nacidos oscila entre uno en 6.000 a uno en 8.000. Los afectados tienen una elevada mortalidad, solo el 4% supera el primer año de vida. Son pocos los casos reportados que superan los 5 años. Objetivo El objetivo de este artículo es reportar un caso de T18 de larga sobrevida con características en la cavidad oral no descritas en la literatura, y aportar información a médicos y pediatras sobre la etiología, el fenotipo, la sobrevida y el consejo genético. Reporte de caso Paciente de sexo femenino de 7 años con 2 cariotipos realizados en cultivo de linfocitos que mostraron 47,XX+18 en todas las metafases. Con talla y peso bajos, facies dismórficas, retardo severo del desarrollo psicomotor y cognitivo, imposibilidad para alimentarse, ausencia del lenguaje verbal, sordera neurosensorial, marcha atáxica, hipoplasia cerebelosa; genitales con labios mayores y menores hipoplásicos. En la cavidad oral paladar en forma de cúpula, macroglosia, no se observaron incisivos centrales superiores y primeros molares superiores e inferiores. En las radiografías se encuentran hallazgos de formación de las piezas dentales ausentes en la boca, concluyéndose erupción tardía. Conclusiones En los casos de T18 la mortalidad in útero y neonatal es alta, las características clínicas in útero y en recién nacidos han sido bien descritas. Dado que son pocos los casos que superan los 5 años el fenotipo aún está por establecerse. En la paciente aquí reportada se encontraron hallazgos en la cavidad oral no descritos en la literatura.

Introduction The trisomy 18 syndrome occurs due to the presence of an extra chromosome 18 in most cases. The prevalence in infants is estimated at 1:6000 to 1:8000. Those affected have a high mortality rate, only 4% may survive their first year of life. There are few reported cases exceeding five years of age. Objective The aim of this paper is to report a case of trisomy 18 of long survival with oral cavity features not described in the literature, and to provide information to physicians and paediatricians about aetiology, phenotype, survival and genetic counselling. Case report A 7 year-old female patient with 2 karyotypes performed by lymphocyte culture showing 47XX+18 in all metaphases. She presented with growth deficiency, dysmorphic facies, severe psychomotor retardation and cognitive disability, inability to feed, lack of verbal language, sensorineural hearing loss, ataxia, cerebellar hypoplasia, and genitals with hypoplastic labia majora and minora. In the oral cavity: dome shaped palate, macroglossia, absence of upper central incisors and first upper and lower molars in mouth. X-ray findings showed formation of missing teeth, with late eruption being concluded. Conclusions In cases of trisomy 18 syndrome there is an increased risk of neonatal and infant mortality. The clinical characteristics in utero and in neonates have been well described. Since few cases exceeding five years of age have been reported, the phenotype is yet to be established. In the case being reported we describe oral cavity findings not documented in the literature.

Research and development of Chinese medicinal resources of elk and thoughts on its resources industrialization / 中草药

As a precious Chinese medicinal resource, the antler, bone, flesh, and blood of Elaphurus davidianus (elk) have been used in Chinese medicine for over 2 000 years. However, they had been out of use for more than 100 years since the deer was extinct in the wild in China. Nowadays, as the reintroduction of elk population in China, they have increased rapidly and aroused a great interest in studies on the protection and utilization of biological resources. Based on analysis of the development and conservation of the elk resources, the strategies of resources industrialization of elk biological resources were put forward. Firstly, the combination by development model of wild domestication and artificial breeding should be established. Secondly, basic researches on the rational utilization of the elk resources need to be carried out. Thirdly, a series of products originated from Milu resources should be developed. All these strategies could promote the resources industrialization of elk in agriculture, industry, commerce, health care products, food, cosmetics, and industrial processing equipment and technology of Chinese medicine. They could also guide and promote the comprehensive utilization and protection of elk biological resources for sustainable development.

Sindrome de Edwards o Trisomia 18: reporte de un caso / Edwards syndrome or trisomy 18: a case report

RESUMEN Se presenta un caso de síndrome de Edwards, por sospecha ecográfica desde la semana 18 de gestación, con seguimiento ecográfico 2D, 3D y 4D, confirmado por cariotipo post natal. Óbito 48 hs post nacimiento.

ABSTRACT An Edwards’ case is presented, because of an ultrasound suspicion since the 18th gestation week, with an ultrasound follow-up using 2D, 3D and 4D, confirmed by post natal karyotype. Fetus died after 48 hours of its birth.

Aspectos clínicos da síndrome de Edwards / Clinical aspects of Edwards syndrome

Introdução: A síndrome de Edwards é polimalformativa decorrente da presença de um cromossomo extra no par 18 como trissomia. Tem mutação baseada em mais de 90% em trissomia livre e a minoria dos casos em mosaicismo e translocação. Métodos: Relato de série de 13 casos confirmados de trissomia 18 em hospital pediátrico terciário em cinco anos. Amostra com maior prevalência do sexo feminino, prematuros limítrofes, baixo peso, nascidos de parto cesáreo e sem diagnóstico pré-natal. Os estigmas genéticos mais registrados foram micrognatia, dedos de mãos superpostos, pés em taco de golfe, orelhas pontiagudas e sopro cardíaco. Todos os pacientes tinham cardiopatia congênita, com predomínio de comunicação interventricular e canal arterial patente. O cariótipo por banda G confirmou trissomia livre em todos os casos. A maioria foi internada em terapia intensiva neonatal e evoluiu para óbito até o terceiro mês de vida. As principais causas de óbitos foram insuficiência cardíaca, hipertensão pulmonar e pneumonia. Conclusão: Os pediatras ainda demonstram baixo grau de suspeição específica da doença e desconhecem o prognóstico reservado.

A Case of Unique Prosthetic Valve Dysfunction with Rheumatic Valvular Disease / 日本心臓血管外科学会雑誌

An 85 year-old woman underwent mitral valve replacement with Carpentier-Edwards PERIMOUNT (CEP) at the age of 72 because of rheumatic mitral stenosis. Thirteen years after its implantation, prosthetic valve dysfunction developed increasingly severe aortic valve stenosis and she underwent double valve replacement. Prolapse was found in one leaflet of the explanted CEP valve, while neither visible calcification nor tear was detected.

Feto Papiráceo en Gestación Gemelar y Síndrome de Edwards: A Propósito de un Caso / Vanishing Twin in Multiple Gestation and Edwards Syndrome: A Case Report

Se expone el caso clínico de una gestación gemelar bicorial biamniótica que dio lugar a la muerte fetal espontánea del segundo gemelo a las 16 semanas, por lo que curso desde el segundo trimestre con feto papiráceo. La causa de la muerte se atribuyó al diagnóstico de Síndrome de Edwards, cromosomopatía de muy mal pronóstico en la vida intrauterina y perinatal, con tasas de mortalidad intraútero de hasta el 80% de los casos. El segundo gemelo se obtuvo sin complicaciones estructurales y no se documentó repercusión en la madre; a pesar de que la bibliografía científica indica un mayor riesgo de morbimortalidad del gemelo vivo, la gestación y el parto cursaron sin complicaciones.

It was presented a case report of a dichorinic diamniotic twin pregnancy in which there was spontaneous fetal death of the second twin at 16 weeks, so on going since the second trimester with papyraceus fetus. The cause of death of the fetus was attributed to Edwards Syndrome, chromosomal disease with poor prognosis in intrauterine and perinatal life, intrauterine mortality rates of up to 80% of cases.The second twin was obtained without structural complications and no documented impact on the mother.Although described in the literature an increased risk of morbidity and mortality of the living twin, this case pregnancy and childbirth progressed without complications.

Doble aneuploidía (trisomía X, trisomía 18) en una recién nacida con fenotipo de trisomía 18 / Double aneuploidy (trisomy x, trisomy 18) in a newborn with trisomy 18 phenotype

Se presenta el caso de una recién nacida con una doble trisomía, con complemento cromosómico 48,XXX,+18, con fenotipo de síndrome de Edwards (trisomía 18). Las características clínicas fueron restricción del crecimiento intrauterino, facies dismórfca, mano con sobreposición de dedos, comunicación interventricular, estenosis pulmonar y pie equinovaro izquierdo. Se realiza una revisión de la bibliografía y discusión de los casos previamente comunicados.

We report the case of a newborn girl with a double trisomy, with a chromosome complement 48,XXX,+18, with Edwards syndrome phenotype (trisomy 18). The clinical feature included intrauterine growth retardation, dysmorphic facies, hand with overlapping fngers, ventricular septal defect, pulmonary stenosis and left clubfoot. A review of the literature and discussion of previously reported cases is made.

A Systematic Review and Meta-Analysis of the Incidence of Paravalvular Leak Incidence Post Procedure, Six Months and One-Year Following TAVI.

Aims: Paravalvular regurgitation (PVR) post transcatheter aortic valve implantation (TAVI) is associated with poor survival however considerable variability exists between incidences of PVR in current literature. The primary aim of this study was to establish the incidence of PVR post-procedure, at 6-months and 1-year following TAVI. The secondary aims of this study were to review the impact of moderate to severe PVR on mortality and examine strategies employed to reduce PVR. Methods: PubMed searches included articles detailing paravalvular leak rates post TAVI published between 2002 and 2013. A systematic review and meta-analysis of current literature to identify PVR incidence at three time points was performed using the random effects model of DerSimonian and Laird. A total of 19 studies were identified. For post procedure to 30 days, six months and one year; 7,652, 3,340 and 3,673 patients were included in the analysis of incidence of PVR. Results: The pooled analysis of PVR incidence was 8.21, 10.2 and 10.98% in each group respectively. Moderate-severe PVR is associated with an increased risk of mortality in all studies reviewed. Management strategies include balloon valvuloplasty, transcatheter aortic valve implantation-in-transcatheter aortic valve (TAVI-in-TAV), valve repositioning and the use of occlusion devices. Conclusion: Moderate-severe PVR occurs in approximately one in ten patients directly following TAVI and does not appear to change significantly in the first year. A number of feasible strategies can be employed to treat PVR. Consideration should be given to the development of early-intervention management algorithms for this patient cohort in order to improve survival post TAVI.