Clinical analysis of monochorionic-diamniotic twins with genetic discordance / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic etiology of 5 cases of monochorionic-diamniotic (MCDA) with genetic discordance.@*METHODS@#148 cases of MCDA twins who were diagnosed by amniocentesis at the Maternal and Child Health Care Hospital of Guangxi Zhuang Autonomous Region from January 2016 to June 2020 were selected as the study subjects. Relevant clinical data of the pregnant women were collected, and amniotic fluid samples of the twins were collected separately. Chromosomal karyotyping analysis and single nucleotide polymorphism array (SNP array) assay were carried out.@*RESULTS@#The results of chromosomal karyotyping analysis showed that 5 of the MCDA twins had inconsistent chromosome karyotypes, with an incidence of 3.4% (5/148). SNP array assay showed that 3 fetuses were mosaics.@*CONCLUSION@#Genetic discordance occurs among MCDA twins, and prenatal counseling for such cases should be given by doctors with experience in medical genetics and fetal medicine, and personalized clinical management should be recommended.

Gestação e Desenvolvimento Inicial de Gêmeos: Um Estudo a partir de Relatos Maternos / Pregnancy and Early Development of Twins: A Study based on Maternal Reports / Embarazo y Desarrollo inicial de Gemelos: Un Estudio basado en Informes Maternos

As interações sociais iniciais são fundamentais para o desenvolvimento infantil, sendo essencial o papel dos adultos na promoção de práticas que o favoreçam. Tais práticas podem ser influenciadas por aspectos contextuais e pelas emoções, concepções e expectativas parentais sobre seus filhos. No presente estudo, foi considerada a configuração familiar caracterizada pela presença de bebês gêmeos. O objetivo foi conhecer as emoções das mães acerca da gravidez gemelar e analisar as suas concepções e expectativas sobre o desenvolvimento dos gêmeos nos primeiros 24 meses de vida. Participaram deste estudo nove mães de bebês gemelares, que responderam a um questionário sociodemográfico e a uma entrevista semiestruturada. Os resultados revelaram sentimentos maternos ambivalentes relativos à experiência com a gemelaridade desde a gestação; concepções sobre desenvolvimento infantil, fatores que podem influenciá-lo e diferenças entre os gêmeos; e expectativas sobre o desenvolvimento dos bebês. Conclui-se que uma maior compreensão sobre aspectos relacionados à maternidade de gemelares pode auxiliar na criação de redes de apoio socioemocional aos cuidadores e de contextos que favoreçam as interações estabelecidas entre a tríade mãe-bebês.

Initial social interactions are fundamental to child development, and the role of adults in promoting practices that favor them is essential. Such practices can be influenced by contextual aspects and by parental emotions, conceptions and expectations about their children. In the present study, the family configuration characterized by the presence of twin babies was considered. The objective was to get to know the mothers' emotions about twin pregnancies and to analyze their conceptions and expectations about the development of twins in the first 24 months of life. Nine mothers of twin babies participated in this study, who answered a sociodemographic questionnaire and a semi-structured interview. The results revealed ambivalent maternal feelings regarding the experience with twinning since pregnancy; conceptions about child development, factors that can influence it and differences between twins; and expectations about the development of babies. We conclude that a greater understanding of aspects related to twin maternity can help in the creation of social and emotional support networks for caregivers and contexts that favor the interactions established between the mother-babies triad.

Las interacciones sociales iniciales son fundamentales para el desarrollo infantil, siendo fundamental el rol de los adultos en la promoción de prácticas que los favorezcan. Dichas prácticas pueden estar influenciadas por aspectos contextuales y por emociones, concepciones y expectativas de los padres sobre sus hijos. En el presente estudio se consideró la configuración familiar caracterizada por la presencia de bebés gemelos. El objetivo fue conocer las emociones de las madres sobre los embarazos gemelares y analizar sus concepciones y expectativas sobre el desarrollo de los gemelos en los primeros 24 meses de vida. En este estudio participaron nueve madres de gemelos, quienes respondieron un cuestionario sociodemográfico y una entrevista semiestructurada. Los resultados revelaron sentimientos maternos ambivalentes con respecto a la experiencia del hermanamiento desde el embarazo; concepciones sobre el desarrollo infantil, factores que pueden influir en él y diferencias entre gemelos; y expectativas sobre el desarrollo de los bebés. Concluimos que una mayor comprensión de los aspectos relacionados con la maternidad gemelar puede ayudar en la creación de redes de apoyo social y emocional a los cuidadores y contextos que favorezcan las interacciones que se establecen entre la tríada madre-bebé.

Gene-lifestyle interaction on coronary heart disease in adult twins of China / 中华流行病学杂志

Objective: To explore the gene-lifestyle interaction on coronary heart disease (CHD) in adult twins of China. Methods: Participants were selected from twin pairs registered in the Chinese National Twin Registry (CNTR). Univariate interaction model was used to estimate the interaction, via exploring the moderation effect of lifestyle on the genetic variance of CHD. Results: A total of 20 477 same-sex twin pairs aged ≥25 years were recruited, including 395 CHD cases, and 66 twin pairs both had CHD. After adjustment for age and sex, no moderation effects of lifestyles, including current smoking, current drinking, physical activity, intake of vegetable and fruit, on the genetic variance of CHD were found (P>0.05), suggesting no significant interactions. Conclusion: There was no evidence suggesting statistically significant gene-lifestyle interaction on CHD in adult twins of China.

Atendimento de famílias com crianças pequenas / Care of families with young children / Cuidado de familias con niños pequeños

Este artigo apresenta o atendimento de uma família com gêmeos com três anos e meio de idade. Discute brevemente a importância do atendimento familiar nos casos de suspeita de autismo e no caso de gêmeos, para apresentar a complexidade dos vínculos, da configuração edípica e da própria configuração do ego de cada gêmeo. Traz o relato de uma sessão de família com o referencial da psicanálise dos vínculos que nos dá uma ideia clara das situações importantes que emergem em uma sessão e das intervenções psicanalíticas possíveis neste setting.

This article presents the care of a family with three-and-a-half-year-old twins. Briefly discuss the importance of family care in cases of suspected autism and in the case of twins, to present the complexity of the bonds, the oedipal configuration, and the ego configuration of each twin. It brings the report of a family session with the psychoanalysis of bonds framework that gives us a clear idea of the important situations that emerge in a session and the possible psychoanalytic interventions in thissetting.

Este artículo presenta el cuidado de una familia con gemelos de tres anos y medio de edad. Discute brevemente la importancia del cuidado familiar en casos de sospecha de autismo y en el caso de gemelos, para presentar la complejidad de los lazos, la configuración edípica y la configuración del ego de cada gemelo. Trae el informe de una sesión familiar con el marco de vínculos de psicoanálisis que nos da una idea clara de las situaciones importantes que surgen en una sesión y las posibles intervenciones psicoanalíticas en este entorno.

Renegar del agujero en el caldero: defensas inconsistentes sobre el experimento de gemelos de Neubauer / To deny the hole in the cauldron Inconsistent defenses over Neubauer's twin experiment

El documental Three Identical Strangers, de Tim Waldle (2018) revela una investigación secreta sobre el desarrollo de hermanos genéticamente idénticos separados de manera deliberada para ser criados en circunstancias diferentes. Desde su estreno el experimento expuesto ha provocado una serie de rechazos en la opinión pública y entre los profesionales de la salud mental. El presente trabajo analiza los argumentos de los psiquiatras y psicoanalistas Leon Hoffman y Lois Oppenheim, que han cuestionado el documental y defendido el experimento, para analizar sus argumentos y evaluar si los mismos son consistentes o, por el contrario, pretenden legitimar una investigación éticamente inaceptable

Tim Waldle documentary film Three Identical Strangers (2018), reveals a secret investigation on the development of genetically identical siblings who were separated on purpose so as to be raised in different social contexts. Since it´s premiere, the exposed experiment has caused a series of rejections among public opinion and mental health professionals. This paper focuses in the arguments of psychiatrists Leon Hoffman and Lois Oppenheim in defense of the experiment and against the film, so as to analyzse if their arguments are consistent, or on the contrary, they pretend to legitimate an ethically unacceptable investigation.

Diagnóstico pré-natal de gêmeos parapagos dicefálicos por meio de ultrassonografia: relato de caso / Prenatal diagnosis of dicephalic parapagus twins with ultrasound: case report

RESUMO Os gêmeos unidos são formados nos estágios iniciais da gestação. A varidade parapagos dicefálicos costumam apresentar corações fundidos com arco aórtico, transposição de grandes vasos e ausência de baço e situs inversus. Assim, é importante o diagnóstico precoce dessa condição, pois ela se relaciona diretamente com o prognóstico. Nesse relato, tem-se uma paciente primigesta, em que através de Ultrassonografia foi diagnosticada gestação bigemelar imperfeita, havendo divisão incompleta dos embriões ao nível do tórax, sendo percebidas duas cabeças e duas colunas cervicais e torácicas, ligadas a um corpo único, composto por uma pelve, duas pernas e dois braços (parapagos dicefálicos), com movimentação e atividade cardíaca presentes. Diante disso, foi realizada conduta expectante, até que com o aumento do sangramento e cólica a paciente foi até o hospital, onde foi feita macroindução e posterior curetagem pós-abortamento. Assim, com o desenvolvimento da ultrassonografia foi que esse diagnóstico passou a ser possível, facilitando a escolha da via de parto e planejamento cirúrgico. PALAVRAS-CHAVE: Gêmeos, gêmeos unidos, diagnóstico pré-natal

ABSTRACT United twins are formed in the early stages of pregnancy. The dicephalic parapagus variety usually presents fused hearts with aortic arch, transposition of large vessels and absence of spleen and situs inversus. Thus, an early diagnosis of this condition is important, as it is directly related to the prognosis. In this report there is a primigravid patient, in whom an imperfect twin pregnancy was diagnosed through ultrasonography, with incomplete division of the embryos at the level of the thorax, with two heads and two cervical and thoracic columns, connected to a single body, consisting of a pelvis, two legs and two arms (dicephalic parapagus), with movement and cardiac activity present. Therefore, an expectant management was performed, up until the patient went to the hospital with increased bleeding and colic, when labor induction and subsequent post-abortion curettage were performed. Thus, with the development of ultrasonography, this diagnosis became possible, facilitating the choice of the mode of delivery and surgical planning. KEYWORDS: Twins, united twins, prenatal diagnosis

Gemelarity-based diagnosis for subclinical keratoconus / Diagnóstico baseado em gemelaridade para ceratocone subclínico

ABSTRACT We report a case of two twins for whom advanced keratoconus is present in one of the siblings and no clear sign of the disease could be found for the other.

RESUMO Relatamos um caso de dois gêmeos em que o ceratocone avançado está presente em um dos irmãos e nenhum sinal da doença foi encontrado no outro.

Perinatal conditions of late preterm twins versus early term twins / 中国当代儿科杂志

OBJECTIVE@#To study the perinatal complications of late preterm twins (LPTs) versus early term twins (ETTs).@*METHODS@#A retrospective analysis was performed for the complications of 246 LPTs, 496 ETTs, and their mothers. The risk factors for late preterm birth were analyzed. According to gestational age, the twins were divided into five groups: 34-34@*RESULTS@#Maternal hypertension, maternal thrombocytopenia, placenta previa, and premature rupture of membranes were independent risk factors for late preterm birth in twins (@*CONCLUSIONS@#Compared with ETTs, LPTs have an increased incidence of perinatal complications. The incidence of perinatal complications is associated with gestational ages in the LPTs and ETTs.

Secuencia de perfusión arterial reversa gemelar (TRAP): reporte de caso clínico de manejo expectante / Twin Reverse Arterial Perfusion Sequence (TRAP): clinical case report of expectant management

TRAP describe la perfusión crónica de un gemelo acardíaco por un gemelo de bomba a través de canales vasculares entrelazados permeables. La secuencia TRAP ocurre en 1 de cada 35.000 nacimientos o en 1 de cada 100 pares de gemelos monocigóticos. Se diagnostica mediante los hallazgos ecográficos de un feto de desarrollo normal y una masa amorfa con frecuencia con partes fetales perceptibles. El Doppler color revela el flujo sanguíneo reverso hacia el gemelo acardíaco dentro de la arteria umbilical lo que lleva a las complicaciones típicas del cuadro. El manejo expectante es razonable en ausencia de características pronósticas deficientes. El propósito de este artículo es revisar los aspectos básicos y el estado actual de esta condición, haciendo énfasis en el diagnóstico y el manejo expectante.

TRAP describes the chronic perfusion of an acardiac twin by a pump twin through permeable interlocking vascular channels. TRAP occurs in 1 in 35,000 births or 1 in 100 pairs of monozygotic twins. It is diagnosed by ultrasound findings of a normally developing fetus and an amorphous mass often with noticeable fetal parts. Color Doppler reveals the reverse blood flow to the acardiac twin within the umbilical artery, leading to typical complications of the condition. Expectant management is reasonable in the absence of poor prognostic characteristics. The purpose of this article is to review the basic aspects and current status of this condition, emphasizing the diagnosis and expectant management.

Asymmetric parasitic twins - Heteropagus

SUMMARY BACKGROUND: Asymmetric or heteropagus conjoined twins is a rare occurrence, with an incidence of one case in 1-2 million. Conjoined twins are classified according to their symmetry, place of fusion, and grade of duplication. METHODS: We report here an extremely rare presentation of parasitic twins not described before. We describe macro and micro anatomic alterations and discuss the aspects of this peculiar presentation and the importance of prenatal diagnosis. RESULTS: The case of a twenty-three-year-old patient, with monochorionic, monoamniotic asymmetrically-conjoined twin pregnancy, discovered at 29 weeks of gestational age. We believe that this report calls attention to this presentation and the importance of prenatal care and management. The twins were delivered vaginally without life. The twins' combined weight was 1.300 gr. They were bonded in the left cervical region. CONCLUSION: This report may help to find strategies for clinical decisions in future cases. Antepartum diagnosis is important to the management, preoperative planning, and outcomes. Prenatal imaging exams like echocardiography, CT, MRI, and ultrasonography are feasible and can provide relevant information about malformation severity and prognosis.

RESUMO BACKGROUND: Gêmeos parasitas assimétricos ou heterópagos são uma ocorrência rara, com incidência de um caso em 1-2 milhões. Os gêmeos siameses são classificados de acordo com sua simetria, local de fusão e grau de duplicação. MÉTODOS: Relatamos aqui uma apresentação extremamente rara de gêmeos parasitários não descritos anteriormente. São descritas alterações macro e microscópicas e discutidos aspectos relevantes dessa malformação e da importância do diagnóstico pré-natal. RESULTADOS: Um caso de uma paciente de 23 anos de idade, com gestação monocoriônica, monoamniótica de gêmeos siameses assimétricos diagnosticada com 29 semanas de idade gestacional. Acreditamos que este relato chama a atenção para esta apresentação e para a importância do cuidado e manejo pré-natal. Os fetos nasceram de parto vaginal já sem vida, pesando em conjunto 1.300 gramas, e eram unidos pela região cervical esquerda. CONCLUSÃO: Este relato pode ajudar a encontrar estratégias para a decisão clínica em casos futuros. O diagnóstico pré-natal é fundamental para o manejo e planejamento pré-operatório. Exames de imagem como ecocardiografia, tomografia computadorizada, ressonância magnética e ultrassonografia são factíveis e podem fornecer informações-chave sobre a gravidade e prognóstico da malformação.

Individualização em gêmeos: uma revisão integrativa / Individualization in twins: an integrative literature review

O processo de individualização em gêmeos se mostra mais complexo se comparado com filhos singulares, envolvendo maiores questões em relação à separação entre o bebê e a mãe, também entre os próprios cogêmeos. Devido ao aumento de nascimentos de gêmeos, o assunto é atual, porém ainda são poucos os estudos na área. O trabalho teve por objetivo investigar a produção científica brasileira sobre o processo de individualização em gêmeos na atualidade. Para isso, realizou-se uma revisão bibliográfica integrativa em bases de dados online, de artigos e teses referentes à temática. Foram selecionados e analisados 14 trabalhos científicos que atenderam aos critérios de inclusão. Verificou-se dificuldade em estudar o processo de individualização em gêmeos devido a algumas de suas particularidades, como a genética e ambiente de criação compartilhados, intensificando, consequentemente, as ideações e práticas culturais sobre o desenvolvimento gemelar. Assim, entende-se a necessidade de estudos mais aprofundados.

The process of individualization of twins appears to be more complex when compared with individual children, involving major issues regarding the separation between the baby and the mother and also among the twins themselves. Because of the increase in births of twins, this is a current subject, although there are still few studies in the area. This study aimed to investigate the Brazilian scientific production about the individualization process in twins today. For this, an integrative literature review of online databases was conducted, including papers and theses concerning the subject. A total of 14 scientific studies that met the inclusion criteria were selected and analyzed. While studying the process of individualization of twins, some challenges appeared, mainly due to particularities like shared genetics and raising environment, which consequently intensify the ideation and cultural practices related to the growth of twins. Thus, further studies are considered necessary.

Pré-escolares nascidos prematuros apresentam desempenho adequado em vocabulário expressivo e memória de curto prazo verbal? / Do preschoolers born premature perform properly on lexical and verbal short-term memory abilities?

RESUMO Objetivo Investigar o desempenho lexical e a habilidade de memória de curto prazo verbal em crianças prematuras em idade pré-escolar, e comparar os resultados com seus pares nascidos a termo. Método Participaram do estudo 40 pré-escolares com idade entre 4 e 5 anos e 11 meses divididos em dois grupos, sendo 20 nascidos prematuros e 20 nascidos a termo. Os grupos não diferiram quanto à idade, renda familiar e escolaridade materna. Foram utilizados testes de vocabulário expressivo e memória de curto prazo verbal. A análise estatística inferencial foi realizada por meio dos testes de Mann-Whitney e exato de Fisher. Resultados O desempenho dos grupos não diferiu na tarefa de vocabulário, mas o grupo de prematuros apresentou desempenho inferior ao de seus pares na tarefa de repetição de não palavras. Conclusão Nesta amostra, o desempenho dos pré-escolares que nasceram prematuros foi estatisticamente inferior ao daqueles nascidos a termo apenas na tarefa de repetição de não palavras. Assim, o nascimento prematuro esteve associado a desempenho no vocabulário expressivo compatível com o esperado para a idade, porém com prejuízos na memória de curto prazo verbal.

ABSTRACT Purpose To investigate lexical performance and verbal short-term memory ability in premature infants at preschool age and compare the results with their full-term peers. Methods Forty preschool children aged between 4 and 5 years and 11 months participated on the study and were equally divided into two groups considering their gestational age: preterm and full-term. Groups did not differ on age, family income and maternal education. Participants were paired according to their chronological age and their socioeconomic status. Their performance was assessed using expressive vocabulary and verbal short-term memory tests. Inferential statistical analysis was performed using the Mann-Whitney and the Fisher exact test. Results Group performance did not differ on vocabulary, but premature children showed an inferior performance on nonword repetition tasks. Conclusion These data indicates that preschoolers born premature performed statistically lower than their peers born full-term on nonword repetition task. Thus, premature birth was associated to vocabulary development on typically developing range, but also to verbal short-term memory impairments.

Characterization of a pair of twins as blood group chimeras / 中华医学遗传学杂志

OBJECTIVE@#To delineate the blood group for a pair of twins with inconclusive ABO blood typing result.@*METHODS@#Serological test for blood group was carried out by using ABO and Rh Blood Grouping Cards (Microcolumn Gel Immunoassay). Sequence specific primer-PCR (PCR-SSP), direct sequencing and TA clone sequencing were used to analyze the ABO gene. Genetic status was analyzed by using 16 short tandem repeat (STR) markers.@*RESULTS@#Red blood cells of the twins displayed 2+ mixed agglutination phenomenon with anti-A, anti-A1 and anti-E. PCR-SSP and DNA sequencing of exons 6 to 7 revealed that they have an ABO*O.01.01/ABO*O.01.02 genotype. DNA sequencing of microsatellite enhancer region revealed presence of A gene. STR analysis revealed more than two haplotypes for 9 loci between the twins. After clustered by anti-A, the red blood cells were divided into two groups: A, CcDEe and O, CcDee, respectively.@*CONCLUSION@#Serological and molecular techniques have characterized the twins as blood group chimeras.

Research progress on genetic effects of the asymmetry of human brain structure revealed by magnetic resonance imaging / 生物医学工程学杂志

Hemispheric asymmetry is a fundamental organizing principle of the human brain. Answering the genetic effects of the asymmetry is a prerequisite for elucidating developmental mechanisms of brain asymmetries. Multi-modal magnetic resonance imaging (MRI) has provided an important tool for comprehensively interpreting human brain asymmetry and its genetic mechanism. By combining MRI data, individual differences in brain structural asymmetry have been investigated with quantitative genetic brain mapping using gene-heritability. Twins provide a useful natural model for studying the effects of genetics and environment on the brain. Studies based on MRI have found that the asymmetry of human brain structure has a genetic basis. From the perspective of quantitative genetic analysis, this article reviews recent findings on the genetic effects of asymmetry and genetic covariance between hemispheres from three aspects: the asymmetry of heritability, the heritability of asymmetry and the genetic correlation. At last, the article shows the limitations and future research directions in this field. The purpose of this systematic review is to quickly guide researchers to understand the origins and genetic mechanism of interhemispheric differences, and provide a genetic basis for further understanding and exploring individual differences in laterized cognitive behavior.

Alteraciones estomatognáticas del síndrome 3M: reporte de dos casos / Stomatognathic alterations of 3m syndrome: two cases report

Resumen El síndrome 3M es un desorden autosómico recesivo, heterogéneo, poco común, llamado así por los tres investigadores que lo describieron por primera vez, Miller, Mckusck y Malvaux. Las características principales son retraso en el crecimiento prenatal y postnatal severo, dismorfias faciales y anomalías radiológicas. En sus manifestaciones estomatológicas presentan dolicocefalia, abombamiento frontal, cara triangular, labios gruesos, cejas pobladas, hipoplasia maxilar severa, facies melancólicas, retraso en la erupción dental severa y falta de crecimiento del macizo facial. El objetivo del artículo es la descripción de casos gemelares de 8 años y 6 meses de edad, que acuden a la Clínica de Atención Dental Avanzada de la Universidad de Monterrey, con confirmación del síndrome 3M por prueba sanguínea a los 4 años de edad por parte del Servicio de Genética del Hospital Universitario. Se realiza rehabilitación bucal de ambas niñas, y, posteriormente, son referidas a interconsulta con ortodoncia interceptiva. MÉD.UIS.2019;32(2): 59-65

Abstract 3M syndrome is very rare, it's a heterogeneous autosomal recessive disorder named after 3 researches who described it for the first time, Miller, Mckusck and Malvaux. Whose main characteristic are; delayed prenatal growth, severe postnatal growth, facial dysmorphia, radiological abnormalities, presence of dolichocephaly, frontal bulging, triangular face, thick lips, raised eyebrows, severe maxillary hypoplasia, melancholic facies, delayed severe dental eruption, lack of facial mass growth. The objective of the article is the description of twin cases that come to the Advanced Dental Care Clinic of the University of Monterrey; 8 years 6 months old, with confirmation of the 3M syndrome, with a blood test at 4 years of age by the Genetics Service of the University Hospital. MÉD.UIS.2019;32(2): 59-65

Fetal anesthesia for twin-to-twin transfusion syndrome and fetal hydrothorax drainage: case report / Anestesia fetal para síndrome de transfusión gemelar y drenaje de hidrotórax fetal: reporte de caso

Abstract Fetal surgery in utero is an alternative for treatable congenital malformations. Prognosis will improve with early correction. Once the surgical technique is planned, the anesthetist's knowledge of maternal and fetal physiology is crucial for the selection of the ideal anesthetic technique for each individual case, considering the type of surgical procedure and the expected degree of fetal stimulation. In this way, the optimal surgical field with maternal and fetal safety will be ensured. This article describes 1 case of twin-to-twin transfusion syndrome under spinal anesthesia and sedation, and a second case of hydrothorax drainage under sedation.

Resumen La cirugía fetal in útero es una alternativa para las malformaciones congénitas tratables, su intervención temprana mejora el pronóstico del feto. Una vez planeada la técnica quirúrgica el conocimiento del anestesiólogo sobre la fisiología materna y fetal es fundamental, puesto que deberá determinar la técnica anestésica ideal acorde al contexto de cada caso considerando el tipo de procedimiento quirúrgico a realizarse y el grado de estimulación fetal esperado. De esta manera se asegura un campo quirúrgico óptimo ofreciendo seguridad materno fetal. En este artículo se describen dos casos: el primero síndrome de transfusión gemelar se realizó bajo anestesia raquídea y sedación, en el segundo caso de drenaje de hidrotórax bajo sedación.

Bloques gemelos en el tratamiento del síndrome de clase II división 1 con trastornos temporomandibulares / Twin blocks in the treatment of class II division 1 syndrome with temporomandibular disorders

Introducción: Diversos estudios evidencian que las desarmonías del esqueleto provocan disfunciones temporomandibulares, pues la oclusión dentaria condiciona la posición de los cóndilos en la cavidad glenoidea. Los requisitos del tratamiento ortodóncico incluyen lograr una oclusión estable y equilibrada, una estética facial óptima y el funcionamiento saludable de la articulación temporomandibular. Objetivo: Describir los resultados obtenidos con los bloques gemelos en pacientes con síndrome de clase II, división 1, con trastornos temporomandibulares. Métodos: Se realizó un estudio descriptivo en los pacientes que ingresaron a la consulta de ortodoncia del policlínico "Juan Manuel Páez Inshausty", con edades entre 11 y 14 años, con síndrome de clase ΙΙ, división 1 y trastornos temporomandibulares, en el período comprendido entre febrero 2017 y enero 2018. Se describen 8 pacientes, con el análisis del índice de Helkimo al inicio y a los seis meses de instalados los bloques gemelos básicos. Resultados: Predominaron los pacientes leves con un 62,5 por ciento y el 87,5 por ciento presentó alteración en el funcionamiento de la articulación temporomandibular. A los 6 meses de tratamiento, se encontró que 7 estaban asintomáticos y solo un paciente persistía con alteraciones de la función de la articulación temporomandibular. Conclusiones: La mayoría de los pacientes pasaron a estar asintomáticos a los seis meses del tratamiento con los bloques gemelos(AU)

Introduction: Several studies show that disharmonies of the skeleton cause temporomandibular dysfunctions, since the dental occlusion determines the position of the condyles in the glenoid cavity. The requirements of orthodontic treatment includes achieving stable and balanced occlusion, optimal facial aesthetics and healthy functioning of the temporomandibular joint. Objective: To describe the results obtained with the twin blocks in patients with class II syndrome, division 1, with temporomandibular disorders. Methods: A descriptive study was carried out in the patients who entered the orthodontic clinic of the "Juan Manuel Páez Inshausty" polyclinic, aged between 11 and 14 year old, with class II syndrome, division 1 and temporomandibular disorders, in the period included between February 2017 and January 2018. 8 patients are described, with the analysis of the Helkimo index at the beginning and six months after the basic twin blocks were installed. Results: Mild patients predominated with 62.5 percent and 87.5 percent presented alteration in the temporomandibular joint function. After 6 months of treatment, 7 were found to be asymptomatic and only one patient persisted with alterations in temporomandibular joint function. Conclusions: Most patients became asymptomatic six months after treatment with the twin blocks

Orientação parental para insônia infantil em irmãos gêmeos: um relato de caso / Parental guidance for childhood insomnia in twins: a case report / Orientación parental para el insomnio infantil en hermanos gemelos: un informe de caso

Resumo A intervenção comportamental, por meio da orientação parental, vem alcançando resultados positivos no manejo da insônia em crianças. Contudo, questiona-se a efetividade de tais intervenções em irmãos gêmeos, pelo fato de os pais partilharem os cuidados de duas crianças da mesma idade e nível de desenvolvimento. O objetivo deste estudo é apresentar um relato de caso de intervenção comportamental para insônia infantil em irmãos gêmeos por meio de um programa dirigido aos pais e verificar o efeito da intervenção no sono e comportamentos diurnos das crianças. A mãe dos gêmeos foi orientada quanto as técnicas de extinção e reforço positivo no manejo do problema de sono infantil. Os resultados demonstraram que depois da intervenção houve melhora nos hábitos de sono, na qualidade do sono e nos comportamentos internalizantes e externalizantes das crianças. Os achados apresentados neste estudo mostraram os efeitos positivos que a intervenção baseada na aprendizagem operante teve sobre o sono e o comportamento infantil. Este aspecto ressalta a importância de uma inserção maior da questão do sono na Psicologia, a partir de práticas preventivas e interventivas.

Abstract Behavioral intervention by means of parental guidance has been achieving positive results in the management of insomnia in children. However, the effectiveness of such interventions in twins is questioned because parents share the care of two children of the same age and level of development. This is a case report of behavioral intervention for childhood insomnia in twins through a program for parents. The objective of this study is to analyze the effect of such intervention on children's sleep and daytime behaviors. The mother of the twins was instructed on the techniques of extinction and positive reinforcement in the management of children's sleep problems. The results showed that after the intervention there was an improvement in the children's sleep habits, sleep quality and internalizing and externalizing behaviors. The findings of this case report show the positive effects that an intervention based on operant learning had on children's sleep and behavior. This highlights the importance of a greater inclusion of issues related to sleep in psychological studies based on preventive and intervention practices.

Resumen La intervención comportamental, por medio de la orientación parental, viene alcanzando resultados positivos en el manejo del insomnio en niños. Sin embargo, se cuestiona la efectividad de tales intervenciones en hermanos gemelos, por el hecho de que los padres comparten los cuidados de dos niños de la misma edad y nivel de desarrollo. El objetivo de este estudio es presentar un relato de caso de intervención comportamental para insomnio infantil en hermanos gemelos por medio de un programa dirigido a los padres y verificar el efecto de la intervención en el sueño y comportamientos diurnos de los niños.. La madre de los gemelos fue orientada en cuanto a las técnicas de extinción y refuerzo positivo en el manejo del problema del sueño infantil. Los resultados demostraron que después de la intervención hubo mejoría en los hábitos de sueño, en la calidad del sueño y en los comportamientos internalizantes y externalizantes de los niños. Los hallazgos presentados en este estudio mostraron los efectos positivos que la intervención basada en el aprendizaje operante tuvo sobre el sueño y el comportamiento infantil. Este aspecto resalta la importancia de una inserción mayor de la cuestión del sueño en la psicología, a partir de prácticas preventivas e interventivas.

Fetal Survival Immediate after Fetoscopic Laser Ablation in Twin to Twin Transfusion Syndrome

BACKGROUND: The purpose of this study was to determine prognostic factors that can affect the fetal survival immediate after fetoscopic laser ablation. METHODS: The study population consisted of consecutive twin pregnant women who underwent fetoscopic laser ablation with the diagnosis of twin to twin transfusion syndrome (TTTS) from 2011 to 2018 in Seoul National University Hospital. Fetal survival immediate after procedure was defined as survival to 48 hours after procedure and neonatal survival was defined as survival to 28 days of life. Clinical characteristics and ultrasound findings were compared according to the fetal survival immediate after procedure. RESULTS: A total of 57 pregnant women with TTTS were included, and the overall fetal survival immediate after procedure was 71.1% (81/114) after fetoscopic laser ablation. Fetuses who survived immediate after procedure had higher gestational age at procedure and lower frequency of abnormal Doppler studies than those did not survive. However, the frequency of hydrops was not different between cases with fetal survival and those with fetal death. The earlier gestational age at procedure and the presence of abnormal Doppler studies were significant risk factors for fetal death even after adjustment. CONCLUSION: Based on this data, the fetal survival immediate after procedure (fetoscopic laser treatment) in TTTS can be affected by the gestational age at procedure and the presence of abnormal Doppler studies.