Análise de métodos de identificação humana para diferenciação de gêmeos monozigóticos: revisão de literatura / Analysis of human identification methods for differentiating monozygotic twins: a literature review

Devido à dificuldade de diferenciação entre gêmeos monozigóticos (GM) e as limitações existentes nos métodos, decorrentes das influências e similaridades genéticas, ambientais e faciais, a busca por métodos confiáveis que possam distinguir esses indivíduos geneticamente idênticos torna-se de grande importância para o campo forense. O objetivo deste trabalho foi realizar uma revisão da literatura do tipo narrativa a respeito dos métodos que ofereçam segurança para diferenciação entre GM. Constatou-se que a análise de pontos característicos individuais na impressão datiloscópicas e plantares, desenvolvimento dental, impressão labial, rugoscopia palatina, medidas faciais antropométricas, biometria ocular e por impressão vocal, padrões de cristas das unhas e de veias, seio frontal e impressão da língua são métodos eficazes para a identificação de GM. Ainda, superando a análise convencional de DNA, surgiu a análise genética por meio das variações sequenciais do genoma, denominado de Massively Parallel Sequencing que tornou possível distinguir gêmeos monozigóticos. Além dos métodos primários de identificação humana que permitem a diferenciação de GM, como a papiloscopia e odontologia, diversos métodos para diferenciação de GM estão descritos na literatura, e cada qual possui suas vantagens e limitações no sentido de propiciar ao perito a melhor informação no sentido de que GM sejam adequadamente diferenciados

A number of limitations can be found in the methods in identifying monozygotic twins (MT) due to genetic influences, facial and environmental similarities, the search for reliable methods to identify genetically identical individuals has become a great importance for Forensic Science. The objective of this work was to conduct a literature review in search of methods that offer attested identification among MT. It was found that the analysis of individual characteristic points in fingerprint and plantar impressions, dental development, lip impression, palatal rugoscopy, anthropometric facial measurements, ocular and voice impression biometry, patterns of nail ridges and veins, sinus Front and tongue print are effective methods for MT identification. Also, surpassing the conventional analysis of DNA, genetic analysis emerged through the sequential variations of the genome, called Massively Parallel Sequencing, which made it possible to distinguish monozygotic twins. In addition to the primary methods of human identification that allow the differentiation of MT, such as papiloscopy and dentistry, several methods for differentiating MT are described in the literature, and each one has its advantages and limitations in the sense of providing the expert with the best information in terms of that GM are properly differentiated

Diagnosis and treatment analysis of living kidney transplantation between identical twins / 中华泌尿外科杂志

The effect of living kidney transplantation between identical twins is satisfied, but it is rarely reported. From October 2019 to February 2021, two recipients received kidney transplantation from their twin sisters in the Second Xiangya Hospital of Central South University. The primary disease of the two recipients was acute glomerulonephritis in 1 case and diabetic nephropathy in 1 case. Two recipients received tacrolimus/cyclosporine+ mortemycophenol ester+ methylprednisolone after surgery. The patients were followed up for 3.0 and 1.5 years, respectively, with renal function recovering well.

Seguridad de la anestesia neuroaxial en mujeres con embarazo gemelar y síndrome de transfusión feto-fetal, sometidas a fotocoagulación láser. Estudio de cohorte retrospectiva / Safety of neuraxial anesthesia in patients twin pregnancy and twin-to-twin transfusion syndrome taken to laser photocoagulation. Retrospective cohort study

Objetivo: describir las características clínicas y la frecuencia de complicaciones maternas, fetales y neonatales, según técnica de anestesia neuroaxial (AN) en mujeres con síndrome de transfusión feto-fetal (STFF) tratadas con fotocoagulación láser (FL). Materiales y métodos: estudio de cohorte retrospectiva descriptivo. Se incluyeron gestantes con STFF tratadas con FL y AN en la Fundación Valle del Lili, Cali (Colombia) entre 2013-2017. Se excluyeron pacientes con STFF estadio-V de Quintero. Se usó estadística descriptiva. El protocolo fue aprobado por el Comité de Ética de la institución. Resultados: 32 participantes cumplieron con los criterios de inclusión y de exclusión. La población estuvo constituida por mujeres jóvenes, multíparas. En el 87,5% de los casos se realizó intervención de urgencia. El 43,7% presentaba el estadio-III de Quintero y en el 56,2 % de las gestantes se utilizó anestesia epidural. Las variables hemodinámicas maternas exhibieron un comportamiento similar, acorde al momento de la cirugía y la técnica neuoraxial implementada. El 65,6 % de las gestantes presentó hipotensión sostenida y el 9,3 % desarrolló edema pulmonar. El 65,6 % de las pacientes experimentó parto pretérmino y el 18,7 % ruptura prematura de membranas. Se registraron 14 muertes fetales y cinco neonatales. No se registraron casos de mortalidad materna. Conclusiones: en pacientes con STFF que requieren FL, el uso de la anestesia epidural, espinal o combinada probablemente se asocia con un comportamiento similar al de las variables hemodinámicas maternas, durante los momentos de la cirugía. Los profesionales que brindan atención a estas gestantes deben estar alerta ante la frecuente aparición de complicaciones maternas, fetales y neonatales. Se requieren estudios prospectivos que evalúen la seguridad y la efectividad de las diferentes técnicas de anestesia neuroaxial en pacientes con STFF.

Objective: To describe the clinical characteristics and the frequency of maternal, fetal and neonatal complications in accordance with the neuraxial anesthesia (NA) technique in women with twin-to- twin transfusion syndrome (TTTS) treated with laser photocoagulation. Materials and Methods: Descriptive retrospective cohort study of pregnant patients with TTTS treated with laser photocoagulation under NA at Fundación Valle del Lili, Cali (Colombia), between 2013-2017. Patients with Quintero stage VTTTS were excluded. The protocol was approved by the institutional ethics committee. Results: Of the participants, 32 met the inclusion and exclusion criteria. The study population consisted of young, multiparous women. Urgent interventions were performed in 87.5% of cases; 43.7% were Quintero stage III and epidural anesthesia was used in 56.2% of the women. Maternal hemodynamic variables were similar, in accordance with the timing of surgery and the neuraxial technique used. Sustained hypotension occurred in 65.6% of the pregnant women and 9.3% developed pulmonary edema. Pre-term delivery occurred in 65.6% of the patients and 18.7% had premature rupture of membranes. There were 14 fetal demises and five neonatal deaths. There were no cases of maternal mortality. Conclusions: In patients with TTTS requiring laser photocoagulation, the use of epidural, spinal or combined anesthesia is likely associated with similar maternal hemodynamic variables at the time of surgery. Practitioners providing care to these pregnant women must be aware of the frequent occurrence of maternal, fetal and neonatal complications. Prospective studies to assess the safety and effectiveness of the different neuraxial anesthesia techniques in patients with TTTS are required.

Progress on Copy Number Variation and Its Application in Forensic Medicine / 法医学杂志

Recently, researches on copy number variation （CNV） have extended to every field, such as etiological exploration and precise treatment of complex diseases, as well as genetic breeding and evolution. The unique genetic characteristics of CNV have made people gradually believe that it could be used as a biological genetic marker to solve related problems. With the development of detection technology, application of CNV in forensic medicine will increase gradually. In this paper, the concept and development of CNV, as well as its application in forensic medicine are summarized, to provide new ideas for the practical application of CNV in the future.

Clinical difference between identical twins with sickle cell anemia / Diferenças clínicas entre gêmeas idênticas com anemia falciforme

ABSTRACT Sickle cell anemia (SCA) is a genetic disease that causes important clinical manifestations due to chronic hemolysis and vascular occlusion. The aim of this study was to report a rare case of monozygotic twins diagnosed with SCA, presenting a different clinical characteristic. An interview with the patients was carried out and the medical records were consulted. One patient has a history of malleolar ulcer in the left back, while the other does not. Both patients used hydroxyurea at the same dosage. This study shows that SCA presents, in addition to genetic factors, non-genetic factors involved in the severity of the disease and its clinical manifestations. Studies are needed that may contribute to the understanding of the clinical heterogeneity of SCA.

RESUMEN La anemia de células falciformes (ACF) es una enfermedadgenética que causa importantes manifestaciones clínicas debido a la anemia hemolítica crónica y a la oclusión vascular. El objetivo de este estudio fue reportar un caso raro de gemelas monocigóticas con diagnóstico de ACF, presentando una característica clínica diferente. Se realizó una entrevista con las pacientes, consultándose sus fichas médicas. Una paciente tiene historia de úlcera maleolar en la región izquierda, mientras la otra no. Ambas hacían tratamiento con hidroxiurea en la misma dosis. Este estudio demuestra que la ACF presenta, además de factores genéticos, factores no genéticos involucrados en la severidadde la enfermedad y sus manifestaciones clínicas. Son necesarios estudios que contribuyan para la comprensión de la heterogeneidad clínica de la ACF.

RESUMO A anemiafalciforme (AF) é uma doença genética que causa importantes manifestações clínicas devido à hemólise crônica e à oclusão vascular. O objetivo deste estudo foi relatar um caso raro de gêmeas univitelinas com diagnóstico de AF, apresentando uma característica clínica diferente. Uma entrevista com as pacientes foi realizada, e os prontuários foram consultados. Uma paciente tem história de úlcera maleolar na região esquerda, enquanto a outra não. Ambas as pacientes faziam tratamento com hidroxiureia na mesma dosagem. Este estudo mostra que a AF apresenta, além de fatores genéticos, fatores não genéticos envolvidos na gravidade da doença e suas manifestações clínicas, sendo necessários estudos quepossam contribuir para o entendimento da heterogeneidade clínica da AF.

Estudo datiloscópico entre gêmeos monozigóticos para fins de identificação humana / Datiloscopic study between monozygotic twins for human identification purposes

Objetivo: Analisar as características datiloscópicas entre pares de gêmeos monozigóticos (GM), observando coincidências e divergências entre os irmãos e avaliando o potencial identifi-catório dos relevos dérmicos digitais para individualização dos mesmos. Material e Métodos: Estudo cego e transversal, quanti-tativo, de abordagem indutiva e observação direta extensiva. As impressões digitais foram analisadas e classificadas em tipos fundamentais (arco, presilha interna, presilha externa, verticilo e anômalo) e acidentais (anômalo, cicatriz e amputação) e, posteriormente, assinalados os pontos característicos. Resulta-dos: Foram coletadas 46 fichas datiloscópicas, oriundas de 23 pares de GM, sendo 14 duplas pertencentes ao sexo feminino e 9 ao masculino, com idades entre 18 e 28 anos. Os dedos que apresentaram maior concordância entre os pares de GM foram os polegares, direito e esquerdo, e o anular direito, com 82,5%. Na mão direita, o padrão mais observado foi presilha externa, enquanto no membro esquerdo o tipo prevalente foi presilha interna. Conclusão: As estruturas que compõem as impressões digitais, apesar de muito semelhantes, são capazes de individualizar GM pela existência de pontos característicos individuais, auxiliando no processo de identificação humana. (AU)

Objective: To analyze dactyloscopy characteristics between MT pairs, observing coincidences and divergences between the siblings and evaluating the identification potential of the finger-prints for their individualization. Material and Methods: Blind and cross-secional, quantitative study with inductive approach and extensive direct observation. The fingerprints were analyzed and classified into patternal types (arch, internal clip, external clip, verticil and anomalous) and accidental (anomalous, scar and amputation) and, later, the characteristic points were pointed out. Results: 46 fingerprint records were collected from 23 MT pairs, of those 14 were female pairs and 9 male, with ages between 18 to 28 years. The fingers that showed the highest agreement among the MT pairs were the right and left thumbs, and the right ring finger with 82.5%. The right hand showed the external clip as the most frequent pattern, while the left hand the prevalent type was internal clip. Conclusion: The fingerprints' components, although very similar, are able to individualize MT by the existence of individual characteristic points, supporting the process of human identification. (AU)

Research Progress on Discrimination of Monozygotic Twins / 法医学杂志

Individual identification plays an import role in the practice of forensic medicine, and often provides crucial evidence for the analysis and detection of criminal cases.However, for individual identification in complex situations, such as monozygotic (MZ) twins assumed to be genetically identical, it is impossible to distinguish one from the other by using traditional forensic DNA typing system.Therefore, how to discriminate the MZ twins has become and will continue to be one of the difficult problems in forensic field.This paper summarized the genetic and epigenetic changes recently identified in MZ pairs, which might provide a new insight to forensic discrimination of MZ twins.

Maternal and Perinatal Outcome in Twin Gestation in a Referral Hospital at Visakhapatnam

Background: Multiple births have been a subject of great interest to various Scientists such as endocrinologists and geneticists, a source of fascination to some people and a causes concern to obstetrician and pediatricians. Multiple pregnancies are associated with many problems for the obstetrician during ante-natal, intranatal and postnatal periods. For the mother the prognosis is worse than a singleton pregnancy and for the fetus the prognosis is very depressing and it is associated with very high fetal mortality. Aim: To study various factors leading to maternal and fetal morbidity and mortality in multiple fetal gestations. Material and methods: Prospective observational study was carried out on 100 antenatal women with twin gestations who attended Victoria Government Hospital, a referral hospital for women and child at Visakhapatnam from October 2015 to September 2017. Maternal and perinatal morbidity and mortality and their causes were analyzed. Results: In this study, 73 women (73%) were booked and 27 women (27%) were unbooked. Maternal and perinatal complications were more in unbooked cases. Incidence of preeclampsia was 22%, gestational hypertension cases 10% and eclampsia cases twice more than the singleton pregnancy. Incidence of poly-hydromnios 5%, Anemia was 40%, APH was 1%, pre-term labour – 30%. Gundu Vanaja, Polumuru Usha Devi, D Hemalatha Devi, Usha Prasad, P Durga Kumari, Y Madhuri. Maternal and Perinatal Outcome in Twin Gestation in a Referral Hospital at Visakhapatnam. IAIM, 2017; 4(12): 153-157. Page 154 Intrapatrum and postpartum complications like PROM – 20%, uterine inertia – 6%, cord prolapse – 2%, PPS – 13%, LSCS rate – 40%. Conclusion: Twin gestation is a high risk pregnancy associated with antenatal, intranatal and postnatal complications which cases increased morbidity and mortality of both mother and fetus. Early diagnosis, good antenatal care and treatment of antenatal complications, labor management in the tertiary center, liberal use of C-section also NICU will improve perinatal, maternal outcome.

Related factors of monozygotic twins in IVF/ICSI-ET / 实用医学杂志

Objective To analyze the phenomenon of monozygotictwin(MZT)in in vitro fertilization/intra-cytoplasmic sperm injection-embryo transfer (IVF/ICSI-ET),and explore possible laboratory-related factors that may contribute to MZT. Methods Patients who transferred single embryo in our center from January 2015 to October 2016,including 1786 fresh embryo transfer cycles and 1710 thawed embryo transfer cycles and 49 preimplantation genetic diagnoses(PGD)cycles,were retrospectively analyzed. Correlation between fresh embryo,embryo freez-ing and thawing,embryo quality,artificial assistant hatching and MZT were analyzed. Results (1)There was no significant difference in the MZT rate between embryo age ,in vitro culturing time and in vitro fertilization mode (P > 0.05).(2)The MZT rate between fresh blastocysts and frozen-thawed blastocysts showed significant differ-ence(0.88%vs. 3.08%,P<0.05).(3)The incidence of MZT was significantly higher in laser hatching than that in mechanical hatching in PGD(25.00% vs. 0.00%,P < 0.05). Conclusion Frozen and assisted incubation of blastocyst are risk factors for MZT.

Body fat and lipid profile of monozygotic twins discordant for insulin resistance / Gordura corporal e perfil lipídico de gêmeos monozigóticos discordantes para resistência à insulina

Abstract The study investigated alterations in body fat and metabolic profile of adolescent monozygotic twins, resulting from discordance for insulin resistance, adjusted for physical activity, physical fitness and heredity. Thirty-eight pairs of monozygotic twins were assessed for anthropometric measurements to estimate body fat. Physical fitness was estimated with treadmill test and use of ergospirometer. Daily physical activity was estimated from the daily count of steps measured by a pedometer during 3 days. Fasting blood samples were used to determine blood glucose, insulin, lipid parameters. The Homa-IR and HOMA-β indexes were calculated. Twins with measures higher than 2.5 were considered insulin resistant. When both brothers were below or above cutoffs, the pair was allocated to the concordant group. When one brother was insulin resistant and the other was not, the pair was allocated in the discordant group. Twins were compared using paired test. In the discordant group, it was observed that insulin-resistant twins had higher birth weight values, bodyweight, BMI, waist circumference, body fat percentage, body fat (sum of skinfolds), Homa-β index and lower HDL compared to their corresponding pair. Insulin-resistant twins showed higher values in anthropometry and body composition, as well as in the glycemia and insulin index and lower HDL. These events may have been unchained by metabolic alterations possibly originating from gestational stage, however, modulated by body composition.

Resumo O objetivo do estudo foi investigar alterações na composição corporal e perfil metabólico de gêmeos monozigóticos adolescentes, decorrentes da discordância para resistência à insulina, ajustados para atividade física, aptidão cardiorrespiratória e hereditariedade. Participaram do estudo 38 pares de gêmeos monozigóticos (11 a 17 anos). Foram obtidas as medidas antropométricas de massa corporal (MC), estatura, circunferência da cintura (CC) e espessuras de dobras cutâneas (EDC). Todos os gêmeos foram submetidos a teste de esforço máximo em esteira rolante com análise direta dos gases (VO2máx), avaliação da atividade física diária por meio de pedômetros, a coleta de sangue em jejum para estimativa da glicemia, insulina e perfil lipídico, e posterior estimativa do índice HOMA-RI e HOMA-β. Os pares onde os irmãos apresentavam-se ambos abaixo ou acima do ponto de corte (Homa-RI < 2,5) foram alocados no grupo concordante (GC). Quando um irmão era resistente e outro não resistente à insulina, este par foi alocado no grupo discordante (GD). Foi observado, no GD, que os gêmeos resistentes à insulina, apresentavam maiores valores de peso de nascimento, MC, IMC, CC, percentual de gordura, adiposidade corporal (soma EDC) e índice Homa-β, além de menor valor de HDL comparados aos seus pares correspondentes. Jovens resistentes à insulina apresentaram valores superiores na antropometria e composição corporal, bem como, índices glicêmicos e insulínicos e menor HDL. Estes eventos podem ter sido desencadeados pelas alterações metabólicas possivelmente originadas na fase gestacional, porém, moduladas pela composição corporal.

Heterogeneous Occlusal Traits among Monozygotic Twins from the Village of Twins – A Report of 3 Cases.

Research involving twins contributes much to the scientific world as they enable one to understand the complex morphological variations and the phenotypic expressions of various genes. Twin research study design illustrates and explains the relative contribution and interactions of genes and the environmental factors responsible for the development of a particular trait. Quantification of the genetic and environmental contributing factors enables researchers to explore the variations to various physical, behavioural disorders and dental diseases like dental caries, periodontal diseases and malocclusion. Research with monozygotic twins who share the same genetic pool and similar environmental factors estimates the expression of a particular trait by disentangling the shared genetic coding and environmental contributing features. Monozygotic twin pairs may not always be a look alike in resemblance or other features given that fact that the original zygotic genome might be altered due to epigenetic and environmental factors. This case report elaborates three monozygotic twins from a unique village of twins who differ in their occlusal characteristics.

Postaxial Polydactyly of the Hands and Feet in Monozygotic Twins

Polydactyly is the most common congenital difference of the hand and foot presenting as a range of defects from minor soft tissue duplications to major bony abnormalities. Although polydactyly of the hand is reported to occur among approximately 1 in 1,000 live births, the co-occurrence of hand polydactyly on hands and polydactyly on feet is as rare as one out of 100,000 persons. We report a case of hand and foot polydactyly in twins. One of the twins had polydactyly on both hands and feet, the other had polydactyly on the right hand and both feet. Postaxial polydactyly in monozygotic twins appears on both hands and feet in a different form shows that polydactyly is caused by multiple factors. It has been reported that the mother's infection and drug in addition to hereditary factors are the causes for polydactyly, but since they are unknown yet, it is necessary to conduct a study of them.

Intrauterine growth restriction in monochorionic-diamniotic twins / Restrição de crescimento intrauterino em gêmeos monocoriônicos diamnióticos.

Objective: to evaluate neonatal morbidity and mortality in monochorionic- -diamniotic (MCDA) twin pregnancies complicated by selective intrauterine growth restriction (sIUGR) and non-selective intrauterine growth resctriction (nsIUGR). Methods: neonatal morbidity parameters and mortality were analyzed in 34 twins with IUGR (< 10th percentile on twins’ growth charts): 18 with sIUGR and 16 with nsIUGR. The sIUGR group was made up of 18 pregnancies in which growth was restricted in only one fetus (n = 18). The nsIUGR group was composed of 8 pregnancies in which both fetuses presented restricted growth (n = 16). Cases of twin-to-twin transfusion syndrome and fetal malformation were not included in the study. Results: the MCDA twin pregnancies with sIUGR had a higher rate of orotracheal intubation (p = 0.001) and mechanical ventilation (p = 0.0006), as well as longer than average fasting time (p = 0.014) compared to those in which the fetuses had nsIUGR. A higher incidence was also observed of types II and III umbilical artery Doppler velocimetry patterns in the sIUGR cases (p = 0.002). There was no significant difference between the two groups as to mortality during pregnancy and the neonatal period (p = 0.09). Conclusion: in MCDA twin pregnancies, sIUGR presents more severe umbilical artery Doppler velocimetry abnormalities and worse morbidity than nsIUGR. .

Objetivo: avaliar a morbidade e mortalidade neonatal em gestações monocoriônicas e diamnióticas (MCDA) acometidas pela restrição de crescimento fetal seletiva (RCFS) e não seletiva (RCFNS). Métodos: os parâmetros de morbidade e mortalidade neonatais foram avaliados em 34 gêmeos com RCF (abaixo do percentil 10 de uma curva de crescimento para gêgêmeos): 18 com RCFS e 16 com RCFNS. O grupo com RCFS teve origem em 18 gestações, em que somente um feto apresentava RCF. O grupo com RCFNS teve origem em 8 gestações em que ambos os fetos apresentavam RCF. Foram excluídos deste estudo casos da síndrome da transfusão feto-fetal e malformações fetais. Resultados: os gêmeos de gestações MCDA com RCFS apresentaram maior frequência de entubação orotraqueal (p=0,001), ventilação mecânica (p=0,0006) e maior tempo em jejum durante internação (p=0,014), quando comparados aos gêmeos de gestações MCDA com RCFNS. No grupo com RCFS, também foram observados maior frequência de tipos II e III de dopplervelocimetria de artéria umbilical (p=0,002). Não houve diferença significativa entre os grupos quanto à mortalidade neonatal (p=0,09). Conclusão: em gestações gemelares MCDA, a RCFS representa maior frequência de alterações severas na velocimetria Doppler da artéria umbilical e piores resultados na morbidade neonatal. .

Embarazo gemelar monocoriónico monoamniótico: Presentación de tres casos y revisión de la literatura / Monochorionic monoamniotic twin pregnancy: Three cases presented and review of the literature

Objetivo: realizar el reporte de casos de embarazo gemelar monocoriónico monoamniótico con entrecruzamiento de cordones y hacer una revisión de la literatura respecto al pronóstico de este tipo de gestación, seguimiento prenatal e intervenciones de manejo hasta su finalización. Materiales y métodos: se presenta el reporte de tres casos que ocurrieron en el Hospital Universitario del Valle, Cali, Colombia, centro de referencia de nivel III del suroccidente colombiano, el cual atiende población embarazada de alto riesgo obstétrico. Se desarrolló una búsqueda de la literatura en la base de datos Medline/Pubmed publicada en español e inglés durante el periodo comprendido entre enero de 1990 a mayo 2013. Se utilizaron los términos: “gemelos”, “gemelos monocigóticos”, “embarazo múltiple”, “embarazo gemelar”. Se incluyeron artículos de revisión, reporte de casos y estudios de corte transversal. Resultados: se revisaron 23 artículos de los cuales 5 correspondieron a artículos de revisión, 7 reportes de casos y 11 estudios de corte trasversal. La información acerca de las tasas de mortalidad, evaluación prenatal, seguimiento, manejo de las complicaciones, momento y modo del nacimiento en gemelos monoamnióticos es controversial. Conclusión: la gestación gemelar monocorial monoamniótica constituye un evento poco frecuente. Esta condición está asociada con múltiples complicaciones obstétricas que incluyen la muerte fetal relacionada con accidentes de los cordones umbilicales (entrecruzamientos). El objetivo del cuidado prenatal constituye la prevención de la mortalidad fetal, por lo que se sugiere la realización continua de pruebas de bienestar fetal. Se ha propuesto la terminación del embarazo en la semana 34 de gestación por operación cesárea, previa administración de esteroides.

Objective: To report cases of monochorionic monoamniotic twin pregnancy with cord entanglement, and conduct a review of the literature regarding the prognosis of this type of gestation, prenatal follow-up and management interventions through to delivery. Materials and methods: We report 3 cases that presented to Hospital Universitario del Valle, Cali, Colombia, a level III referral center in Southwestern Colombia that provides healthcare services to pregnant women with a high obstetric risk. We conducted a search in the literature in the Medline/ Pubmed database published in Spanish and English between January 1990 and May 2013. The terms used were “twins”, “monozygotic twins”, “multiple pregnancy”, “twin pregnancy”. Review articles, case reports and cross-sectional studies were included. Results: Overall, 23 articles were reviewed, including 5 review articles, 7 case reports and 11 cross-sectional studies. Information on mortality rates, pre-natal assessment, follow-up, management of complications, time and mode of birth in monoamniotic twins is controversial. Conclusion: Monochorial monoamniotic twin pregnancy is an infrequent event. This condition is associated with multiple obstetric complications, including fetal demise associated with umbilical cord accidents (entanglement). The goal of prenatal care is to prevent fetal death, hence the suggestion of continuous testing for fetal wellbeing. Termination of pregnancy has been proposed at week 34 of gestation through cesarean section after steroid administration.

Avaliação do processamento auditivo e de linguagem em gêmeos monozigóticos / Evaluation of auditory and language processing in monozygotic twins

Este estudo teve como objetivo avaliar o processamento auditivo (central), a produção fonológica e as habilidades de leitura, escrita e aritmética em gêmeos monozigóticos. Participaram desta pesquisa 18 crianças, com idades entre 6 e 12 anos, sendo 6 do sexo feminino e 12 do sexo masculino. Os resultados mostraram que todas as crianças apresentaram alterações em pelo menos uma habilidade do processamento auditivo central. Houve associação entre a habilidade auditiva de figura-fundo e a consciência fonológica. No teste de desempenho escolar 13 crianças apresentaram resultado abaixo do esperado. Com relação à produção fonológica 9 crianças apresentaram resultado alterado e os processos fonológicos presentes nos irmãos gêmeos eram basicamente os mesmos. Acredita-se que o fator genético exerça influência nas alterações de fala, processamento auditivo e, consequentemente, na aquisição de leitura e escrita; no entanto, fatores ambientais também interferem no desenvolvimento de linguagem oral e escrita. Há necessidade de realizar pesquisas genéticas que identifiquem os genes responsáveis por tais transtornos em gêmeos monozigóticos...

Gêmeos conjugados: experiência de um hospital terciário do sudeste do Brasil / Conjoined twins: an experience of a tertiary hospital in Southeast Brazil

OBJETIVO: analisar a ocorrência de gemelaridade conjugada em um hospital universitário de referência terciária em perinatologia durante 25 anos (janeiro de 1982 e janeiro de 2007) e descrever a separação bem sucedida de um dos pares. MÉTODOS: para este fim, utilizamos retrospectivamente o banco de dados do Hospital das Clínicas da Faculdade de Medicina de Ribeirão Preto da Universidade de São Paulo, obtendo o número de pares de gêmeos conjugados, sua frequência, classificação, gênero, forma de resolução da gravidez, tentativa de separação cirúrgica, diagnóstico pré-natal e sobrevida. RESULTADOS: detectamos 14 pares de gêmeos conjugados (1/22.284 nascidos vivos e 1/90 pares de gêmeos nascidos vivos) nascidos neste período (seis masculinos, sete femininos e um com sexo indeterminado). O diagnóstico pré-natal foi realizado em todos os gêmeos, e os nascimentos ocorreram por cesariana. A separação só foi possível em um dos pares, que sobrevivem em ótimas condições de saúde após oito anos. Dos 13 restantes, dez morreram no mesmo dia do nascimento e três sobreviveram apenas alguns meses (menos de um ano). CONCLUSÃO: apesar de este estudo evidenciar um número anormalmente alto de gêmeos conjugados, trata-se de um fenômeno raro, de prognóstico perinatal reservado e dependente do compartilhamento de órgãos entre os gêmeos e malformações associadas, em especial relacionadas ao coração dos fetos. Devido ao mau prognóstico dos pares e do comprometimento reprodutivo materno pela necessidade de realização de cesariana com grandes incisões uterinas, propomos que, com base nestes números, seja solicitada a interrupção precoce destas gestações, como ocorre com outras doenças fetais incompatíveis com a sobrevida extrauterina. Desta forma, a confirmação diagnóstica e a resolução da gravidez de gêmeos conjugados deve ser realizada em centro de atendimento terciário tanto obstétrico quanto perinatal, e a autorização para a interrupção da gestação obtida por via judicial.

PURPOSE: to analyze the occurrence of conjoined twins at a tertiary perinatology reference university hospital over a period of 25 years (January 1982 to January 2007) and to describe the successful separation of one of the pairs. METHODS: we consulted retrospectively the database of the University Hospital of the Medical School of Ribeirão Preto, University of São Paulo, Brazil, in order to determine the number of pairs of conjoined twins, their frequency, classification, gender, type of pregnancy resolution, attempted surgical separation, prenatal diagnosis and survival. RESULTS: we detected 14 pairs of conjoined twins (1/22,284 live births and 1/90 pairs of twin live births) born during this period (six males, seven females and one of indeterminate sex). The prenatal diagnosis was performed in all twins and all births were accomplished by cesarean section. The separation was possible in only one pair, which survives in excellent health conditions after eight years. Of the remaining 13, ten died on the day of birth and three survived only a few months (less than one year). CONCLUSION: Although our study revealed an abnormally high number of conjoined twins, this is a rare phenomenon, with a poor perinatal prognosis depending on the organs shared by the twins and associated malformations, especially those related to the fetal heart. Due to the poor prognosis of these pairs and to the maternal reproductive impairment caused by the need to perform body cesareans, we suggest that, based on these numbers, early interruption of these pregnancies be legally granted, as in the case of other diseases incompatible with fetal survival outside the uterus. Thus, the confirmation of a diagnosis of conjoined twins and the resolution of pregnancy should be performed at a tertiary obstetric and perinatal care center, and an authorization for the interruption of pregnancy should be obtained by judicial means.

A Case of Monozygotic Twins with Crohn's Disease / 대한소화기학회지

Although the incidence and prevalence rates of IBD in Korea are still lower than Western populations, they have been increasing rapidly during the past decades. Crohn's disease (CD) tends to run in families because it is thought to be related to genetic susceptibility coupled with environmental factors. A large number of monozygotic and dizygotic twin pairs with inflammatory bowel disease have been reported in western countries. The population relative risk in first-degree relatives is considered to be about equal in both Koreans and westerners. To our best knowledge, there is no report in monozygotic twins with CD in Korea. This case report is the first documented occurrence of concordant CD occurring in monozygotic twins in Korea.

A Case of Monozygotic Twins with Crohn's Disease / 대한소화기학회지

Although the incidence and prevalence rates of IBD in Korea are still lower than Western populations, they have been increasing rapidly during the past decades. Crohn's disease (CD) tends to run in families because it is thought to be related to genetic susceptibility coupled with environmental factors. A large number of monozygotic and dizygotic twin pairs with inflammatory bowel disease have been reported in western countries. The population relative risk in first-degree relatives is considered to be about equal in both Koreans and westerners. To our best knowledge, there is no report in monozygotic twins with CD in Korea. This case report is the first documented occurrence of concordant CD occurring in monozygotic twins in Korea.

Influence of intrauterine and extrauterine growth on neurodevelopmental outcome of monozygotic twins

There have been indications that intrauterine and early extrauterine growth can influence childhood mental and motor function. The objective of the present study was to evaluate the influence of intrauterine growth restriction and early extrauterine head growth on the neurodevelopmental outcome of monozygotic twins. Thirty-six monozygous twin pairs were evaluated at the corrected age of 12 to 42 months. Intrauterine growth restriction was quantified using the fetal growth ratio. The effects of birth weight ratio, head circumference at birth and current head circumference on mental and motor outcomes were estimated using mixed-effect linear regression models. Separate estimates of the between (interpair) and within (intrapair) effects of each measure on development were thus obtained. Neurodevelopment was assessed with the Bayley Scales of Infant Development, 2nd edition, by a psychologist blind to the exposure. A standardized neurological examination was performed by a neuropediatrician who was unaware of the exposures under investigation. After adjustment, birth weight ratio and head circumference at birth were not associated with motor or mental outcomes. Current head circumference was associated with mental but not with motor outcomes. Only the intrapair twin effect was significant. An increase of 1 cm in current head circumference of one twin compared with the other was associated with 3.2 points higher in Mental Developmental Index (95 percentCI = 1.06-5.32; P < 0.03). Thus, no effect of intrauterine growth was found on cognition and only postnatal head growth was associated with cognition. This effect was not shared by the co-twin.