Congenital glycosylation disorder type Ⅱm caused by SLC35A2 mutations: a report of 3 cases and literature review / 中华神经科杂志

Objective:To summarize the clinical manifestations, gene variations, diagnosis and treatment of 3 cases with SLC35A2 variations characterized by congenital glycosylation disorder Ⅱm (CDG Ⅱm). Methods:A total of 3 patients admitted to the Department of Pediatrics of Xiangya Hospital of Central South University in China from 2018 to 2020 were examined in detail. The studies till January 2022 were searched with key words of "congenital disorders of glycosylation Ⅱm", " SLC35A2" and "CDG Ⅱm" in both English and Chinese in the databases of China National Knowledge Infrast Ructure (CNKI), Wanfang, Online Mendelian Inheritance in Man and PubMed, and the clinical manifestations, genetic variation, treatments and prognosis of patients with SLC35A2 mutation were summarized. Results:The patients all presented with intractable infantile spasm and global developmental delay, onset in infancy. A variety of antiepileptic treatments had temporary and partial efficacy. Otherwise, proband 2 and 3 presented with abnormal glutamic-pyruvic transaminase and increased platelets. Funduscopy showed dysplasia of the retinal pigment epithelium in both eyes, and they both received D-galactose treatment. A total of 22 relevant case reports, including 99 patients, were collected. The 99 patients all were heterozygous mutations, and a total of 75 different variation sites were reported. The clinical manifestations were characterized by global developmental delay or mental retardation ( n=89), epileptic seizure ( n=75), hypotonia ( n=57), facial deformity ( n=57), skeletal abnormality ( n=50), visual impairment ( n=42), elevated glutamic-pyruvic transaminase ( n=31), gastrointestinal symptoms ( n=28), skin deformity ( n=26), microcephaly ( n=23) and congenital heart disease ( n=12). Craniocerebral magnetic resonance imaging may be normal in the early stage. With age, magnetic resonance imaging may show abnormal white matter signals, brain atrophy, dysplasia of corpus callosum, delayed myelination, enlargement of lateral ventricle, brain stem atrophy and so on. Studies have shown that galactose treatment may be effective. Conclusions:SLC35A2 variants lead to CDG Ⅱm, whose clinical manifestations mainly include epileptic encephalopathy and global developmental delay. Multiple antiepileptic therapies can temporarily or partially control seizures, while oral galactose may improve the clinical symptoms, showing its prospect as a dietary therapy.

Clinical and genetic features of a patient with COG5-CDG caused by COG5 gene variation / 中华检验医学杂志

The patient in this study was a 3 years 8 month old boy. The patient presented with facial dysmorphism including wide eye distance and flat nose. The major clinical manifestations were poor response, backward language and motor development; and his fingers cannot be bent. Moreover, the patient′s hands were also uncoordinated. In addition the patient suffered from congenital myopia and nystagmus; and the teeth were fall off easily. The abnormal reproductive system was characterized by small penis and small testicle. No obvious abnormality was found in liver and kidney function and serum immunoglobulin level through laboratory biochemical test. The results of the spine X-Ray examination indicates scoliosis. Results from brain MRI showed cerebellar dysplasia. Compound heterozygous variants in COG5 gene (c.1039C>T and c.928+3A>G), each inheranted from his parents were found in this patient by high-throughput sequencing and Sanger sequencing. After a clear diagnosis, the patient received language rehabilitation training and motor rehabilitation training. In this study, we found two new variants in COG5 gene and increased the mutation spectrum of this gene.

Caracterización bioquímica y genética de pacientes con defectos congénitos de la glicosilación: experiencia en Uruguay / Biochemical and genetic characterization of patients with congenital glycosylation defects: experience in Uruguay

Resumen Los desórdenes congénitos de la glicosilación son un grupo de desórdenes genéticos de herencia, generalmente autosómica y recesiva. Descriptos por primera vez por Jaeken en 1980, comprenden defectos en la N- y O-glicosilación de proteínas y de lípidos. Los pacientes con defectos de N-glicosilación muestran un amplio espectro de manifestaciones clínicas, con alto compromiso neurológico. Por esta razón, se hace necesaria la implementación de una metodología que ayude en el diagnóstico. El Laboratorio de Pesquisa Neonatal incorporó el isoelectroenfoque de transferrina como método de screening y, posteriormente, secuenciación del gen PMM2 como método confirmatorio para las muestras con screening alterado. Se presentan, en este trabajo, la experiencia y los resultados obtenidos entre noviembre de 2017 y diciembre de 2018, los que permitieron establecer un algoritmo de trabajo que impactó positivamente en el diagnóstico de estos pacientes.

Abstract Congenital disorders of glycosylation are a group of genetic, autosomal and recessive diseases, first reported by Jaeken in 1980. These include defects in N- and O-glycosilation of proteins and lipids. Most N-glycosylation defects are multi-organ diseases with neurological involvement. Therefore, the implementation of a screening methodology is necessary to contribute in the diagnosis. Newborn Screening Laboratory included the transferrin isoelectrofocusing as a screening method and, subsequently, PMM2 gene sequencing as a confirmatory method for samples with altered screening. The present study shows the experience and results obtained between November 2017 and December 2018, which made it possible to establish an algorithm that positively impacted in the diagnosis of these patients.

Resumo Os defeitos congênitos da glicosilação (CDG) são um grupo de doenças genéticas, autossômicas e recessivas.Descritos pela primeira vez por Jaeken em 1980, eles incluem na N- e O- glicosilação de proteínas e lipídios.Pacientes com defeitos da N-glicosilação mostram um amplo espectro de manifestações clínicas, com alto comprometimento neurológico. Por esse motivo, a implementação de uma metodologia necessária para contribuirno diagnóstico. O Laboratório de Pesquisa Neonatal incorporou isoeletro-enfoque da transferrina (IEF)como método de screening e posterior sequenciamento do gene PMM2 como método confirmatório para asamostras que apresentaram triagem alterada. Neste trabalho, são apresentadas as experiências e resultadosobtidos entre novembro de 2017 e dezembro de 2018, que permitiram estabelecer um algoritmo de trabalhoque teve um impacto positivo no diagnóstico desses pacientes.

Spatial Distribution of Congenital Disorders Diagnosed by the Newborn Screening Program in Ecuador

Abstract The newborn screening program in Ecuador has been operating since 2011 under the responsibility of the Ministry of Health. This program is centralized and diagnoses four diseases: congenital hypothyroidism, phenylketonuria, galactosemia, and congenital adrenal hyperplasia. This study aimed to assess the geographical distribution of newborn screening cases in Ecuador. Spatial analysis techniques were applied using the records of the National Newborn Screening Program with a congenital disease confirmed from January 2012 to December 2019. Morbidity rates per 100,000 were calculated by newborn screening disease detected and the province of birth, posteriorly, the map of its distribution was graphed and assessed using the QGIS 3.12 software. In total, 393 cases born confirmed between 2012 and 2019 were registered. The distribution of every disease tends to be different in all provinces in Ecuador; the spatial variation was significant and relative rates showed a higher incidence in some eastern provinces. In conclusion, we found a different distribution and rates of newborn screening disorders in Ecuador. The high incidence of congenital hypothyroidism, phenylketonuria, galactosemia, and congenital adrenal hyperplasia in some areas should be investigated, due could be related to ethnic, genetic, and cultural aspects of the population.

Transferrin isoelectric focusing for the investigation of congenital disorders of glycosylation: analysis of a ten-year experience in a Brazilian center / Isoeletrofocalização da transferrina para investigação das doenças congênitasda glicosilação: análise de dez anos de experiência de um centro brasileiro

Abstract Objectives: To characterize cases of suspected congenital disorders of glycosylation (CDG) investigated in a laboratory in southern Brazil using the transferrin isoelectric focusing TfIEF test from 2008 to 2017. Method: Observational, cross-sectional, retrospective study. The laboratory records of 1,546 individuals (median age = 36 months, 25-75 IQR = 10-108; males = 810) submitted to the TfIEF test during the period were reviewed. Results: Fifty-one individuals (3%) had an altered TfIEF pattern (5 ± 2.8 cases/year; median age = 24 months, 25-75 IQR = 11-57 months; males = 27, 53%). For 14 of them, data on diagnosis conclusion were available (classic galactosemia = 4; hereditary fructose intolerance = 4; peroxisomal diseases = 2; PMM2-CDG = 2; MPDU1-CDG = 1; SLC35A2-CDG = 1).Comparing the cases with the normal and altered TfIEF patterns, there was a higher prevalence of altered cases in the age group from 11 months to 3 years. There was an increase in the likelihood of change in TfIEF, especially in the presence of inverted nipples or liver disease. Conclusions: The data suggest that the investigation of a case with suspected CDG is a complex problem, being aggravated by the existence of other IEMs (inborn errors of metabolism) associated with altered TfIEF pattern and lack of access to confirmatory tests. The presence of inverted nipples and liver disease, especially in individuals aged 11 months to 3 years, should suggest the need for TfIEF investigation.

Resumo Objetivos: Caracterizar os casos com suspeita de CDG investigados em laboratório do sul do Brasil pelo exame de IEFTF de 2008 a 2017. Metodologia: Estudo observacional, transversal, retrospectivo. Foram revisadas as fichas laboratoriais de 1.546 indivíduos (mediana de idade = 36 meses, IQ 25-75 = 10-108; sexo masculino = 810) que fizeram o exame de IEFTF no período. Resultados: Cinquenta e um indivíduos (3%) apresentaram padrão alterado na IEFTF (5 ± 2,8 casos/ano; mediana de idade = 24 meses, IQ 25-75 = 11-57 meses; sexo masculino = 27, 53%). Para 14 deles, estavam disponíveis dados sobre a conclusão do diagnóstico (galactosemia clássica = 4; intolerância hereditária à frutose = 4; doenças peroxissomais = 2; PMM2-CDG = 2; MPDU1-CDG = 1; SLC35A2-CDG = 1). Comparando os casos com padrão normal e alterado na IEFTF, houve maior prevalência de casos alterados na faixa etária de 11 meses a 3 anos. Verificou-se um aumento na probabilidade de alteração na IEFTF principalmente na presença de mamilos invertidos ou de hepatopatia. Conclusões: Os nossos dados sugerem que a investigação de um caso com suspeita de CDG é complexa, é agravada pela existência de outros EIM associados a padrão alterado na IEFTF e pela falta de acesso a exames confirmatórios. A presença principalmente de mamilos invertidos e de hepatopatia em indivíduos na faixa etária de 11 meses a 3 anos deve sugerir a necessidade de investigação por IEFTF.

Asociación VACTERL de presentación inusual: reporte de caso / VACTERL Association with Unusual Presentation: Case Report / Associação VACTERL de apresentação rara: relato de caso

Resumen: En el contexto de Asociación VACTERL, el diagnóstico prenatal de atresia esofágica concomitante con atresia duodenal es poco común. En el presente artículo se realiza el reporte de un caso con la descripción de los hallazgos ecográficos encontrados a partir semana doce de gestación, con la aparición del signo de doble burbuja intraabdominal compatible con atresia duodenal y una arteria umbilical única; y hacia la semana 31 el hallazgo de imagen anecóica y dilatación esofágica del tercio distal con comunicación con la cámara gástrica en corte longitudinal, representando una atresia esofágica, asociada además a polihidramnios. Desde el momento del nacimiento por examen físico y estudios complementarios, se evidenció además ano imperforado con fístula recto vestibular, arcos costales derechos fusionados y hemivértebras. Por los anteriores hallazgos clínicos y radiológicos, se considera que se trata de una asociación VACTERL; sin embargo, sin alteraciones cardiacas, que es una de las características más frecuentemente encontradas. Se realiza una revisión del estado del arte con respecto a la asociación VACTERL y el diagnóstico prenatal de la atresia esofágica y duodenal.

Abstract: In the context of the VACTERL Association, prenatal diagnosis of concomitant esophageal atresia with duodenal atresia is rare. In this article, a case report is described with the description of the ultrasound findings found from week twelve of gestation, with the appearance of the intra-abdominal double bubble sign compatible with duodenal atresia and a single umbilical artery; and towards week 31 the finding of anechoic image and esophageal dilation of the distal-third with communication with the gastric chamber in longitudinal section, representing esophageal atresia, also associated with polyhydramnios. Physical examination and complementary studies from birth showed an imperforate anus with a rectovestibular fistula, and hemivertebrae. Based on the above clinical and radiological findings, it is considered to be a VACTERL association; however, without cardiac abnormalities, which is one of the most frequently found characteristics. A review of the state of the art is carried out with regard to the VACTERL association and the prenatal diagnosis of esophageal and duodenal atresia.

Resumo: No contexto da Associação VACTERL, o diagnóstico pré-natal de atrésia do esôfago concomitante com atrésia de duodeno é pouco comum. Neste artigo, é realizado relato de um caso com a descrição dos achados ecográficos encontrados a partir da 12a semana de gestação, com o surgimento do sinal de dupla bolha intra-abdominal compatível com a atrésia duodenal e uma artéria umbilical única; na 3ia semana, o achado de imagem anecoica e dilatação esofágica do rádio distai com comunicação com a câmara gástrica em corte longitudinal, o que representa atrésia esofágica, associada, ainda, a polidrâmnio. Desde o momento do nascimento por exame físico e estudos complementares, é evidenciado ânus imperfurado com fístula retal vestibular, arcos costais direitos fusionados e hemivértebras. A partir dos achados clínicos e radiológicos, é considerado que se trata de uma associação VACTERL; contudo, sem alterações cardíacas, que é uma das características mais frequentemente encontradas. É realizada uma revisão do estado da arte a respeito da associação VACTERL e o diagnóstico pré-natal da atrésia esofágica e duodenal.

Geospatial analysis of births with congenital disorders, Paraná, 2008-2015: ecological study / Análisis geoespacial de los nacimientos con anomalías congénitas, Paraná, 2008-2015: un estudio ecológico / Análise geoespacial dos nascimentos com anomalias congênitas, Paraná, 2008-2015: estudo ecológico

ABSTRACT Objective: analyze the pattern of spatial distribution of the prevalence rate of births with congenital disorders and its relationship with social, economic, health care and environmental indicators in Paraná, Brazil, from 2008 to 2015. Method: ecological study with variables extracted from secondary banks, related to the births of children of mothers residing in Paraná, in two quadrennial (2008-2011 and 2012-2015). The analysis of the rates was performed with univariate spatial (Moran) and multivariate approach (Ordinary Least Squares and Geographically Weighted Regression). Results: the occurrence of congenital disorders presented a significant association (p<0.05) with: registration in primary care of pregnant women over 20 years of age; urbanization degree; consumption of pesticides; and balance of female formal employment. Conclusion/Final considerations: social, health care and environmental variables showed a non-stationary spatial pattern in the analyzed period and influenced positively and negatively the rates.

RESUMEN Objetivo: Evaluar el patrón de distribución espacial de la tasa de prevalencia de los nacimientos con anomalías congénitas y su relación con los indicadores sociales, económicos, medioambientales, de atención a la salud en el estado de Paraná, Brasil, de 2008 a 2015. Método: Estudio ecológico con variables de bancos secundarios, relativas a los nacimientos de hijos de madres residentes en el estado de Paraná, en dos cuatrienios (2008-2011 y 2012-2015). Se hizo el análisis de las tasas desde el análisis espacial univariada (Moran) y multivariante (Ordinary Least Squares y Geographically Weighted Regression). Resultados: La presencia de anomalías congénitas presentó una asociación significativa (p <0,05) con: el registro en la atención primaria de gestantes mayores de 20 años de edad; el grado de urbanización; el consumo de agrotóxicos; y el saldo de empleo formal femenino. Conclusión: Las variables sociales, medioambientales y de atención a la salud demostraron haber un patrón espacial no estacionario en el período analizado, además influenciaron positiva y negativamente las tasas.

RESUMO Objetivo: Analisar o padrão de distribuição espacial da taxa de prevalência dos nascimentos com anomalias congênitas e sua relação com indicadores sociais, econômicos, de atenção à saúde e ambientais no estado do Paraná, Brasil, de 2008 a 2015. Método: Estudo ecológico com variáveis extraídas de bancos secundários, relativas aos nascimentos de filhos de mães residentes no estado do Paraná, em dois quadriênios (2008-2011 e 2012-2015). A análise das taxas foi realizada com abordagem espacial univariada (Moran) e multivariada (Ordinary Least Squares e Geographically Weighted Regression). Resultados: A ocorrência de anomalias congênitas apresentou associação significativa (p<0,05) com: cadastramento na atenção primária de gestantes maiores de 20 anos; grau de urbanização; consumo de agrotóxicos; e saldo de emprego formal feminino. Conclusão: As variáveis sociais, de atenção à saúde e ambientais demonstraram padrão espacial não estacionário no período analisado e influenciaram positiva e negativamente as taxas.

Hypertrophic osteopathy in a cat with cardiac interventricular septal defect

A 3-year-old mixed-breed female cat was diagnosed with a ventricular septal defect of the heart through an echocardiogram. After a 9-month treatment, progressive and diffuse hard thickening of all limbs was observed, which on radiographic examinations, revealed a marked thickening of the long bones. The necropsy findings were limited to the appendicular skeleton and thoracic vertebrae, in addition to a severe cardiac interventricular septal defect and lung edema. The histological evaluation revealed severe replacement of the cortical bone by spongy bone in all bone fragments examined. This is the first report of hypertrophic osteopathy occurring in association with a cardiac malformation in a cat.

Congenital disorders of glycosylation and liver diseases / 临床肝胆病杂志

Congenital disorders of glycosylation (CDGs) is a group of inherited metabolic diseases caused by abnormal glycosylation of protein or lipids, and the number of CDGs are increasing rapidly in recent years. With the advent and popularization of next-generation sequencing, more and more disorders associated with glycosylation-related gene mutations have been discovered. Synthesis of glycoproteins and glycolipids is one of the major roles of the liver, and many CDGs affect hepatobiliary structure or function and may lead to fatty liver disease, liver fibrosis, and ductal plate malformation. This article reports the latest advances in the pathogenesis, diagnosis, and treatment of CDGs and related liver diseases.

Alterações congênitas do coração e dos grandes vasos em cães / Congenital abnormalities of the heart and large vessels of dogs

As alterações congênitas do coração e dos grandes vasos (ACCGV) são definidas como defeitos morfológicos associados ao nascimento e são as anomalias congênitas mais frequentes dos animais domésticos. O objetivo deste trabalho foi determinar a frequência de diagnósticos de ACCGV em cães no Rio Grande do Sul, com ênfase na Região Metropolitana de Porto Alegre, no período de janeiro de 2000 a dezembro de 2016. Do total de 7.903 necropsias de cães, 27 morreram espontaneamente ou foram submetidos à eutanásia devido às ACCGV, representando 0,3% dos casos. Em 11,1% dos cães apresentaram dois distúrbios congênitos no coração ou nos grandes vasos, totalizando 30 alterações. A idade variou de um dia a 12 anos, com a idade mediana de quatro meses. Em 81,5% acometeu cães com raça, e 18,5% sem raça definida. Em relação ao sexo, 51,8% dos cães eram machos e 48,2%, fêmeas. Estenose subaórtica foi a alteração mais frequente, seguido por defeito do septo atrial, persistência do arco aórtico direito, persistência do ducto arterioso, estenose pulmonar e defeito do septo interventricular, e fibroelastose endocárdica. Dos casos múltiplos, as combinações encontradas foram: persistência do ducto arterioso associado com defeito do septo atrial, estenose subaórtica com defeito do septo interventricular, e defeito do septo atrial e ventricular.(AU)

Congenital alterations of the heart and large vessels (CAHLV) are defined as morphological defects associated with birth and are the most frequent congenital anomalies of domestic animals. The aim of this study was to determine the frequency of CAHLV in dogs in Rio Grande do Sul, with emphasis in the Metropolitan Region of Porto Alegre, from January 2000 to December 2016. Of the 7,903 necropsied dogs, 27 died spontaneously or were submitted to euthanasia due to CAHLV, representing 0.3% of the cases. In 11.1% of the dogs, there were two congenital disorders in the heart or in the great vessels, totaling 30 changes. The age of affected dogs ranged from one day to 12 years, with the median age of four months. In 81.5% it affected dogs with breed, and 18.5%, without breed defined. In 51.8% were males, and 48.2%, females. Subaortic stenosis was the most frequent alteration, followed by atrial septal defect, persistent right aortic arch, patent ductus arteriosus, pulmonic stenosis, ventricular septal defect, and endocardial fibroelastosis. Of the multiple cases, the combinations found were: patent ductus arteriosus associated with atrial septal defect, subaortic stenosis with ventricular septal defect, and atrial and ventricular septal defect.(AU)

Congenital disorder of glycosylation type Ⅰg: a case report and literature review / 中国新生儿科杂志

Objective To study the clinical features,diagnosis,genetic characteristics and treatment of congenital disorder of glycosylation type Ⅰg (CDG-Ⅰg) and to raise the awareness of CDG-Ⅰg among the clinicians.Method The data of one child with CDG-Ⅰg admitted to Shanghai Children's Medical Center affiliated to Shanghai Jiaotong University School of Medicine was studied retrospectively.Literatures were retrieved with key words including "congenital glycosylation disorder Ⅰg","ALG12","congenital glycosylation defect Ⅰg","CDG-Ⅰg" and "congenital disorder" in the Chinese knowledge network,VP database,Wanfang database,Biomedicine,PubMed and the Web of Science database from data established until January 2018.We summarized the clinical and genetic characteristics of CDG-Ⅰg.Result An one-day-old male infant admitted to the Hospital due to "poor response with hypoglycemia" manifested with facial deformity,hypotonia,inverted nipples,micropenis and undescended testes.He had intermittent hypoglycemia and recurrent infection,treated with antimicrobials,glucose rehydration and hormone therapy.Serum insulin,growth hormone level,blood and urine metabolic screening were normal.The patient was compound heterozygous for ALG12 mutations,c.432C ＞ A,p.Cys144 * and c.904T ＞ C,p.Tyr302His,each of his parents carried a pathogenic mutation.The patient died in follow-up for unknown reasons.No reported cases of CDG-Ⅰg from China have so far been reported yet.We reviewed the other 8 cases CDG-Ⅰg (4 males and 4 females) born in foreign countries,5 of them with neonatal onset.Common clinical manifestaions include facial deformity,hypotonia,hypogenitalism,coagulopathy,hypoimmunity,recurrent infection,electroyte imbalance etc.The ALG12 gene has 11 mutation sites.Conclusion CDG-Ⅰg is a rare autosomal recessive disorder.Most reported patients had onset in neonatal period.It seems that the association of facial deformity,psychomotor retardation,hypotonia,coagulopathy,male hypogenitalism and hypoglycemia might be a clue to the diagnosis of CDG-Ⅰg.Gene detection of ALG12 can confirm the diagnosis.This disorder has no specific treatment yet.

Atuação da psicologia inserida no programa de fonoterapia intensiva: relato de experiência / Performance of psychology inserted in the intensive speech therapy program: experience report / Actuación de la psicología insertada en el programa de fonoterapia intensiva: relato de experiencia

Este estudo objetiva descrever a atuação do psicólogo no Programa de Fonoterapia Intensiva, realizado em um hospital especializado em Anomalias Craniofaciais. Tratase de um estudo exploratório descritivo, realizado a partir de observação participante e pesquisa bibliográfica. A atuação do psicólogo compreendeu atividades de: 1) Remediação cognitiva; 2) Grupo de apoio e orientação aos familiares; 3) Preparo para procedimentos invasivos e 4) Assessoria à equipe interdisciplinar. Verificou-se que o psicólogo deve estar sensível às demandas individuais e organizacionais, uma vez que sua atuação prevê interações diversas com os participantes do programa, os familiares e/ou responsáveis e a equipe interdisciplinar. Observou-se desconhecimento acerca das possibilidades de atuação do psicólogo no contexto hospitalar e da atuação deste diante de populações com condições reabilitadoras específicas, como a Fissura Labiopalatina, evidenciando a necessidade de ampliar o acesso aos estudos na área.

This study aims to report the interdisciplinary experience in the Intensive Speech Therapy Program, conducted in a Craniofacial Anomalies skilled hospital. The data of this descriptive and exploratory study was carried out from participant observation and bibliographic research. The psychologist's activities included: 1) Cognitive remediation; 2) Family support and guidance group; 3) Preparation for invasive procedures and 4) Advice to the interdisciplinary team. It was verified that the psychologist must be sensitive to the individual and organizational demands, since its action foresees diverse interactions with the participants of the program, the relatives and/or responsible and the interdisciplinary team. There was a lack of knowledge about the possibilities of the psychologist in the hospital context and on the performance of the psychologist in relation to populations with specific conditions of rehabilitation, such as Cleft Lip and Palate, evidenced the need to expand access to studies in the area.

El objetivo del siguiente estudio consiste en relatar la experiencia interdisciplinaria vivida en el Programa de Fonoterapia Intensiva, hecha en un hospital especializado en Anomalías Craneofaciales. Este se trata de un estudio exploratorio descriptivo, realizado ante la observación participante y la búsqueda bibliográfica. La actuación del psicólogo comprendió actividades de: 1) Remedio cognitivo; 2) Grupo de apoyo y orientación a los familiares; 3) Preparación para procedimientos invasivos y 4) Asesoramiento al equipo interdisciplinario. Se verificó que el psicólogo debe ser sensible a las demandas individuales y organizacionales, ya que su actuación prevé interacciones diversas con los participantes del programa, los familiares y/o responsables y el equipo interdisciplinario. Se observó un desconocimiento acerca de las posibilidades de actuación del psicólogo en el contexto hospitalario y de la actuación de este frente a poblaciones con condiciones de rehabilitación específicas, como el Labio Leporino, evidenciando la necesidad de ampliar el acceso a los estudios en el área.

Bipartite Medial Cuneiform Combined with Accessory Navicular: A Case Report / 대한족부족관절학회지

Accessory navicular is a congenital anomaly appearing in the secondary ossification center on the tuberosity of the navicular that may cause flatfoot. Bipartite medial cuneiform is another rare congenital anomaly occurring as two primary ossification centers in the medial cuneiform. The authors report a rare case of symptomatic bilateral accessory navicular with bipartite medial cuneiform and flatfoot deformity in a 19-year-old man with a review of the literature.

Present Status and Future Concerns of Expanded Newborn Screening in Malaysia: Sustainability, Challenges and Perspectives

Newborn screening (NBS) program is an important tool for the early diagnosis and preventive treatment of life-long impairments. NBS is one of the strategies recommended by the World Health Organization to promote the primary prevention of congenital anomalies and the health of children with these conditions. However, NBS initiation and implementation in developing countries, especially South-East Asian and North African regions, are slow and challenging. Expanded NBS is not mandatory and has not yet been incorporated into the public healthcare system in our country. Limited funding, manpower shortages, inadequate support services, low public awareness, and uncertain commitment from healthcare practitioners are the main challenges in establishing this program at the national level. Involvement and support from policy makers are very important to the success of the program and the benefit of the entire population.

Kabuki Syndrome: a case report with severe ocular abnormalities / Síndrome de Kabuki: relato de caso com alterações oculares severas

Kabuki syndrome is a rare congenital anomaly, characterized by five fundamental features, the "Pentad of Niikawa": dysmorphic facies, skeletal anomalies, dermatoglyphic abnormalities, mild to moderate mental retardation and postnatal growth deficiency. Patients present characteristic external ocular features, nonetheless they may also present significant ocular abnormalities. We report a case of a brazilian child diagnosed with Kabuki syndrome, addressing the clinical features observed, with emphasis on the ocular manifestations. This case highlights the existence of this syndrome and all of its complexity. The identification of preventable causes of loss of vision underlines the value of detailed ophthalmologic examination of Kabuki syndrome patients.

A síndrome de Kabuki é uma anomalia congênita rara, caracterizada por cinco aspectos fundamentais a "Pêntade de Niikawa": face dismórfica, anomalias esqueléticas, alterações dermatoglíficas, retardo mental leve a moderado e retardo de crescimento pós-natal. Os pacientes apresentam aspectos oculares externos característicos. Além disso, também podem apresentar anormalidades oculares significativas. Reportamos um caso de uma criança brasileira diagnosticada com síndrome de Kabuki, relatando os aspectos clínicos observados, com ênfase nas manifestações oculares. Esse caso chama a atenção para a existência dessa síndrome e toda sua complexidade. A identificação de causas evitáveis de perda de visão reforça a importância do exame oftalmológico detalhado de pacientes com síndrome de Kabuki.

Anomalous origin of the circumflex branch from the right coronary artery / Origen anómalo de la rama circunfleja desde la arteria coronaria derecha

Coronary anomalies are a group of congenital disorders. Most of the coronary anomalies are asymptomatic and benign but may cause myocardial ischemia and sudden death. Some of them are dangerous if they associate with other heart diseases. One of the congenital coronary anomalies is anomalous origin of the circumflex branch from the right coronary artery that is a rare congenital anomaly. We present a case of a 61-year-old man with history of hypertension, diabetes mellitus and hyperlipidemia. The coronary angiography reveals a circumflex branch from the right coronary artery.

Las anomalías coronarias son un grupo de trastornos congénitos. La mayoría de estas anomalías son asintomáticas y benignas, pero pueden causar isquemia miocárdica y muerte súbita. Algunas son peligrosas si se asocian con enfermedades cardiacas. Una de las anomalías coronarias congénitas corresponde al origen anómalo de la rama circunfleja desde la arteria coronaria derecha, que es poco frecuente. Se presenta un caso de un hombre de 61 años de edad con antecedentes de hipertensión arterial, diabetes mellitus e hiperlipidemia. La angiografía coronaria reveló una rama circunfleja que se originaba desde la arteria coronaria derecha.

A Case of Partial Trisomy 20p Resulting from Meiotic Recombination of a Maternal Pericentric Inversion

Here we report the cytogenetic and clinical manifestations observed in a patient with a rec(20)dup(20p)inv(20)(p11.2q13.3)mat. The patient was a full-term newborn girl with asymmetric intrauterine growth restriction and multiple congenital malformations, including a ventricular septal defect, pulmonary atresia, ambiguous genitalia, clinodactyly, and sacral dimpling. To our knowledge, this is the 4th report in the world and the 1st one in Korea of a patient with rec(20)dup(20p).

Malformaciones urinarias del recién nacido: estudio ECLAMC 1998-2010 / Urinary malformations among newborns: ECLAMC registry, 1998-2010

Introduction: Congenital abnormalities of the Urinary Tract are frequent and prevalence has increased since the introduction of routine prenatal sonogram. Objectives: To determine the prevalence rate of congenital urinary malformations at birth at Hospital Clínico de la Universidad de Chile. These data will be compared to other Chilean hospitals participating in ECLAMC (Estudio Colaborativo Latino Americano de Malformaciones Congénitas - Latin American Collaborative Study of Congenital Malformations). A longitudinal study will serve to evaluate if significant variation has occurred, and risk factors will be investigated. Patients and Methods: All births occurring between January, 1998 and December, 2010 were included. Prevalence rate of urinary malformations were calculated, and compared to those obtained in previous years. Statistical analysis of proportions was calculated through mean and average comparison was made through Student t test. Results: Urinary anomalies appeared at a rate of 64.5 per 10.000 births. This represents a significant increase from previous studies. Highest risk factor seemed to be "other family members with disease". Most frequent anomaly was Hydroureteronphrosis (24,2 percent) followed by Hypospadias (17 percent). The rate of these malformations in ECLAMC participating Chilean hospitales was 23.37/10.000 births. Conclusion: A significant increase in the diagnosis of these anomalies was shown, being the most important risk factor the presence of family members with similar congenital disorders.

Introducción: Las anomalías congénitas del Aparato Urinario son frecuentes y ha aumentado su prevalencia al nacimiento con la introducción rutinaria del estudio prenatal por ultrasonografía. Objetivos: Determinar la Tasa de prevalencia al nacimiento de las malformaciones urinarias en el Hospital Clínico de la Universidad de Chile. Compararlas con las del resto de los hospitales chilenos que participan en el ECLAMC (Estudio Colaborativo Latino Americano de Malformaciones Congénitas). Estudiarlas a lo largo del tiempo para ver si han tenido variaciones significativas. Investigar factores de riesgo que pueden influir en la aparición de ellas. Pacientes y Método: Se estudió todos los nacimientos ocurridos entre Enero de 1998 y Diciembre de 2010 en el Hospital Clínico de la Universidad de Chile. Se calculó las tasas de prevalencia al nacimiento de las malformaciones urinarias y se las comparó con las obtenidas en períodos anteriores. El análisis estadístico de comparación de proporciones se realizó mediante la prueba de c² y las comparaciones entre promedios se hicieron mediante prueba t de Student. Resultados: La tasa de Anomalías urinarias fue 64,5 por 10 000 nacimientos. Ellas aumentaron significativamente al compararlas con los períodos estudiados anteriormente. El factor de riesgo más influyente fue "otros malformados en la familia". La anomalía más frecuente fue Hidroureteronefrosis (24,2 por ciento) seguida por Hipospadias (17 por ciento). La tasa de estas malformaciones en los hospitales chilenos participantes del ECLAMC fue 23,37/10 000 nacimientos. Conclusión: Se demuestra un incremento significativo del diagnóstico de estas anomalías, siendo el factor de riesgo más importante el antecedente de otros malformados en la familia.

Anoftalmia clínica bilateral associada à hidrocefalia congênita em cão / Bilateral clinical anophthalmia associated with congenital hydrocephalus in the dog

A ausência completa do bulbo ocular é muito rara em cães e gatos, enquanto a hidrocefalia é comumente observada como distúrbio congênito em cães de raças miniatura ou braquicefálicas, com menos de um ano de idade. O presente trabalho relata a ocorrência de anoftalmia clínica bilateral associada à hidrocefalia congênita em um cão da raça poodle, sendo este o primeiro relato de caso da associação dessas alterações no Brasil.

The complete absence of the eyeball is rare in dogs and cats, and hydrocephalus is commonly seen as a congenital disorder in toy or brachycephalic dogs before one year old. This paper describes for the first time in Brazil the occurrence of bilateral clinical anophthalmia associated to congenital hydrocephalus in a dog.

Síndrome de Moebius-Poland: relato de caso e revisão bibliográfica / Moebius-Poland syndrome: case report and literature review

A síndrome de Poland tem etiologia desconhecida, e está relacionada à embriogênese da quinta à oitava semana de gestação, principalmente devido a malformações dos vasos sanguíneos, gerando distúrbios no desenvolvimento osteomuscular. No caso da síndrome de Moebius, cogita-se causa genética ligada ao cromossomo X, utilização de substâncias teratogênicas e abortivas durante a gravidez e diminuição da irrigação sanguínea com isquemia e necrose dos vasos sanguíneos do tronco cerebral, causando deformidades neurofuncionais ao feto. Alguns autores acreditam que as duas síndromes são independentes; outros, que são variações de uma mesma condição. As duas síndromes juntas formam um conjunto de sinais relacionados, como: deformidades ósseas e musculares, hipoplasias, agenesias, paralisias e disfunções dos pares cranianos, acompanhado de deficiência mental e disfunções respiratórias. O caso relatado conta com uma variedade de sintomas que caracterizam essas síndromes

Of unknown etiology, Poland’s syndrome is related to the embryogenesis in the fifth to eighth week of gestation, mainly due to malformations of blood vessels causing disorders in the musculoskeletal development. In the case of Moebius syndrome, possible etiologies include a X-linked chromosomal disorder, use of abortive and teratogenic substances during pregnancy, and decreased blood flow with ischemia and necrosis of blood vessels in the brainstem, causing neurofunctional deformities in the fetus. While some authors believe that the two syndromes are independent, others think that they are variations of the same condition. The two syndromes together form a set of related signals, such as muscle and bone deformities, hypoplasias, agenesis, paralysis and disorders of the cranial nerves, accompanied by mental retardation and respiratory disorders. This case has a variety of symptoms that characterize these syndromes