Novel autopsy and genetic findings in an acardiac twin: case report and literature review

ABSTRACT Twin reversed arterial perfusion (TRAP) sequence is a rare complication of monochorionic twinning whereby a donor twin perfuses an acardiac twin via aberrant vascular anastomoses. The resulting paradoxical retrograde blood flow supplying the acardiac twin is oxygen-poor, leading to some of the most severe malformations encountered in humans. Though the first descriptions of acardiac twins date back to at least the 16th century, the pathophysiologic processes which underpin the development of TRAP sequence are still being elucidated. Theories on the pathogenesis of TRAP sequence include deficiencies intrinsic to the embryo and primary abnormalities of the placental vasculature. Autopsy studies continue to provide clues to the underlying pathogenesis of TRAP sequence, and the characterization of the spectrum of manifestations that can be observed in acardiac twins. Herein, we present the clinical, autopsy, and molecular findings in a unique case of TRAP sequence. Novel findings include a primitive cloaca-like structure and chromosomal aberrations involving 6q11.1 and 15q25.1.

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

Manejo del embarazo gemelar monocoriónico monoamniótico: revisión de la literatura y reporte de caso

A propósito de la presentación de un caso de embarazo gemelar monocoriónico monoamniótico, se revisó la literatura sobre su diagnóstico y manejo mediante búsqueda electrónica en la base de datos de Medline, OVID, Cochrane y PubMed entre los años 1966 y 2019. Las palabras clave utilizadas en la indagación fueron: embarazo, gemelos, monoamniótico, enredamiento de cordones. Existe un riesgo alto de muerte fetal súbita en gemelos monoamnióticos causado por el enredamiento de los cordones umbilicales, por lo que el diagnóstico oportuno de la corionicidad y amnionicidad en el embarazo gemelar mediante ecografía puede dar la pauta para una vigilancia fetal estrecha y mejorar así el resultado obstétrico.

In view of the presentation of a case of monochorionic monoamniotic twin pregnancy, the literature on its diagnosis and management was reviewed by electronic search in the Medline, OVID, Cochrane, and PubMed databases between 1966 and 2019. The key words used in the inquiry were: pregnancy, twins, monoamniotic, cord entanglement. There is a high risk of sudden fetal death in monoamniotic twins caused by entanglement of the umbilical cords, so timely diagnosis of chorionicity and amnionicity in twin pregnancy by ultrasonography may provide guidance for close fetal surveillance and thus improve obstetric outcome.

Phenotypic analysis of discordant monozygotic twins for pain-related temporomandibular joint disorder. Case report / Análise fenotípica de gêmeas monozigóticas discordantes para disfunção temporomandibular dolorosa. Relato de caso

ABSTRACT BACKGROUND AND OBJECTIVES: The design of research with monozygotic twins discordant for the disease has emerged as a powerful tool for the detection of phenotypic risk factors. The aim of this study is to report a clinical case of monozygotic twins discordant for pain-related temporomandibular joint disorder (TMD) from a cognitive-behavioral-emotional phenotypic analysis, from the comparison of clinical variables of pain, history of exposure to painful procedures in early childhood, and coping with pain. CASE REPORT: TMD-Twin presented a diagnosis of painful (myofascial pain with referral) and joint (disk displacement with reduction) TMD according to the criteria of the DC/TMD. Control-Twin did not show TMD, however she presented other chronic pains. TMD-Twin showed reduced pressure pain threshold, hyperalgesia in trigeminal and extra-trigeminal regions compared to the Control-Twin. TMD-Twin was more exposed to painful procedures and emotional events due to congenital heart problems. Both had central sensitization based on the Central Sensitization Inventory, although TMD-Twin had more catastrophic thoughts about pain. TMD-Twin presented an internal locus of control. CONCLUSION: Both monozygotic twins presented a chronic pain phenotype, although they were discordant with the TMD-related pain. The main differences were the lower pressure pain threshold and higher hyperalgesia locally presented by TMD-Twin. The internal locus of control indicates greater pain sensitivity, with better coping of the painful experience for the TMD-Twin. One possible explanation for this clinical condition can be that painful experiences in early childhood have shaped a phenotype of greater sensitivity with better coping and resilience to the painful condition.

RESUMO JUSTIFICATIVA E OBJETIVOS: O desenho da pesquisa com gêmeos monozigóticos discordantes para a doença surgiu como uma ferramenta poderosa para a detecção de fatores de risco fenotípicos. O objetivo deste estudo foi relatar um caso clínico de gêmeas monozigóticas discordantes para disfunção temporomandibular (DTM) dolorosa a partir de análise fenotípica cognitivo-comportamental-emocional entre elas, por meio de comparação de variáveis clínicas de dor, histórico de exposição a procedimentos dolorosos na primeira infância e enfrentamento de dor (autoeficácia e lócus de controle). RELATO DO CASO: A gêmea-DTM apresentou diagnóstico de DTM dolorosa (dor miofascial com referência) e articular (deslocamento do disco com redução) segundo os critérios do Critérios de Diagnóstico para Distúrbios Temporomandibulares. A gêmea--controle não apresentou DTM, contudo apresentou manifestação clínica de outras dores crônicas. A gêmea-DTM apresentou limiar de dor à pressão reduzido, hiperalgesia em regiões trigeminais/extra-trigeminais quando comparados à gêmea-controle, que na primeira infância foi mais exposta a procedimentos dolorosos devido a problemas cardíacos congênitos. Ambas apresentaram sensibilização central de acordo com o Inventário de Sensibilização Central, embora a gêmea-DTM apresentou mais pensamentos catastróficos sobre a dor. A gêmea-DTM apresentou lócus de controle interno. CONCLUSÃO: Ambas as gêmeas apresentaram fenótipo de dor crônica, apesar do fato de serem discordantes para a DTM. Dentre as avaliações, as que mais diferiram entre o par foram o baixo limiar de dor à pressão e hiperalgesia local presentes na gêmea com DTM. O lócus de controle interno associado à maior sensibilidade indicou melhor enfrentamento da experiência dolorosa para a gêmea-DTM. Uma possível explicação para esta manifestação clínica está pautada na hipótese de que experiências dolorosas na primeira infância vivenciadas por ela tenham moldado um fenótipo de maior sensibilidade com melhor enfrentamento e resiliência frente à condição dolorosa.

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.

Síndrome de transfusão feto-fetal: revisão de literatura / Twin-twin transfusion syndrome: a literature review

A síndrome de transfusão feto-fetal é uma complicação das gestações gemelares monocoriônicas. Além de ocorrer comumente no segundo trimestre, apresenta elevada morbimortalidade fetal e neonatal, e taxas de incidência que variam de 10 a 15% dentre todas as gravidezes monocoriônicas. O objetivo deste estudo é realizar uma revisão de literatura a partir de levantamento bibliográfico acerca dos principais aspectos epidemiológicos, clínicos e terapêuticos da STFF. A base de dados PubMed foi consultada, uma vez que os termos de pesquisa utilizados foram "síndrome de transfusão feto-fetal", "diagnóstico" e "tratamento". Obtiveram-se sessenta e oito artigos de revisão de literatura e/ou revisão sistemática, sendo que apenas vinte e nove foram selecionados após aplicação dos critérios de elegibilidade. Em relação à fisiopatologia, a síndrome é explicada pela transferência sanguínea direta entre os fetos gemelares através de anastomoses arteriovenosas placentárias, conceitualmente determinando a existência de um feto receptor e outro doador. Embora as gestantes comumente se apresentam assintomáticas, as repercussões clínicas fetais costumam ser graves. O diagnóstico é exclusivamente ultrassonográfico e deve ser feito o mais precocemente possível, ressaltando-se a importância da detecção da corionicidade da gestação gemelar, além de acompanhamento ultrassonográfico seriado para rastreio do desenvolvimento da síndrome. Apesar de ainda não haver protocolo de tratamento bem estabelecido, a ablação dos vasos placentários a laser é tida como o padrão-ouro dentre as opções terapêuticas disponíveis. Apresenta elevada taxa de sobrevida de pelo menos um dos fetos e baixos índices de sequelas neurológicas neonatais, podendo ser realizada somente até a 26ª semana de gestação.

Twin-twin transfusion syndrome is a complication of monochorionic twin pregnancies. In addition to commonly occurring in the second trimester, it has high fetal and neonatal morbidity and mortality and incidence rates ranging from 10 to 15% among all monochorionic pregnancies. This study aims to perform a literature review based on a bibliographic survey about the main epidemiological, clinical and therapeutic aspects of TTTS. The PubMed database was consulted, as the search terms used were "twin-twin transfusion syndrome", "diagnosis", and "treatment". Sixty-eight literature review and systematic review articles were obtained, and only twenty-nine were selected after applying the eligibility criteria. About the pathophysiology, the syndrome is explained by direct blood transfer between the twin fetuses through placental arteriovenous anastomoses, determining the existence of a recipient fetus and another donor. Although pregnant women are usually asymptomatic, the clinical fetal repercussions are often severe. Diagnosis is exclusively ultrasonographic and must be made as early as possible, emphasizing the importance of detecting chorionicity in twin pregnancy, in addition to serial ultrasonographic follow-up to track the development of the syndrome. Although there is still no well-established treatment protocol, endoscopic laser ablation of vascular anastomoses is considered the gold standard among the available therapeutic options. It has a high survival rate for at least one of the fetuses and low rates of neonatal neurological sequelae and can only be performed until the 26th week of pregnancy.

Concordance of Congenital Heart Defect in Monozygotic Twins in Brazil

Abstract Tetralogy of Fallot (TOF) consists of four cardiac changes: interventricular communication, pulmonary stenosis, aortic dextroposition and right ventricular hypertrophy. The prevalence is 0.1 per 1,000 live births. A primiparous mother with gestational age of 38 weeks came to the emergency. At the time, it was verified in her twin pregnancy that one fetus had TOF, thus a pregnancy interruption was scheduled for the following day. In the neonatal physical examination of both, localized acrocyanosis, regular heart rhythm with the presence of a heart murmur, and good peripheral perfusion were found. The echocardiogram of twin 1 revealed: patent foramen ovale; a wide perimembranous interventricular communication of misalignment, with the aorta riding the septum by 50%; hypertrophied and long infundibulum with pulmonary infundibulo-valvular stenosis, with a maximum systolic gradient of 66 mm Hg; both pulmonary arteries presented dimensions of 0.35 mm; pulmonary valve annulus: 0.56 mm; and patent ductus arteriosus measuring 0.19 mm. The echocardiogram of twin 2 showed: patent foramen ovale; a wide perimembranous interventricular communication of misalignment, with the aorta riding the septum by 50%; hypertrophied infundibulum with stenosis pulmonary infundibulo-valve, with a maximum systolic gradient of 33 mm Hg; reduced confluent pulmonary arteries; right pulmonary artery measuring 0.40 mm and left pulmonary artery measuring 0.55 mm; pulmonary valve annulus measuring 0.72 mm; a closed arterial canal, and mild aortic regurgitation. Tetralogy of Fallot is a multifaceted syndrome with a high prevalence in pediatrics. This case is the first case of congenital heart defect concordance for TOF in monozygotic twins in Brazil.

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.

Outcome of twin fetuses with selective fetal growth restriction / 中华围产医学杂志

Selective fetal growth restriction (sFGR) occurs in about 10% to 15% of monochorionic twins with a high incidence of intrauterine fetal death and low gestational age at birth. sFGR is associated with multisystem adverse prognosis, including brain injury, myocardial hypertrophy, right ventricular outflow tract obstruction, intestinal perforation, and abnormal insulin secretion. sFGR can be classified into three types based on the umbilical artery Doppler waveforms under ultrasound. The clinical characteristics and prognosis vary with the different types. There are few reported studies on the sFGR population, and comprehensive, long-term follow-up is needed.

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.

Parapagus dicephalus conjoined twin: a case report

A conjoined twin is a rare event. As per recent literature, 60% of conjoined twins are aborted spontaneously and hence true incidence of conjoined twin is approximately 1 in 200,000 live births. Classification is based upon site of attachment out of which parapagus with dicephalic variety is extremely rare (0.5% amongst reported cases). Author report a case of dicephalic twin born at 36 weeks of gestation to a multigravida mother in central India.

A study of susceptibility genes in rare monozygotic twins with generalized aggressive periodontitis / 口腔疾病防治

Objective@#Exploring the effects of susceptibility genes on aggressive periodontitis during its occurrence and development lays a foundation for further research on its genetic pathogenesis.@*Methods@#Medical history and clini⁃ cal indicators were collected from monozygotic twins with generalized aggressive periodontitis. Susceptibility genes were detected by polymerase chain reaction⁃restriction fragment length polymorphisms, and the exon gene components were analyzed by whole⁃exome sequencing. @*Results @#The severity of generalized aggressive periodontitis in the twins was dif⁃ ferent (P < 0.05). Florida diagnosis results showed that the younger sister’ s explored clinical depth (probing depth, PD) and clinical attachment loss (CAL) were higher than those for the elder sister, but her clinical bleeding index (bleeding on probing, BOP) was lower than that of the elder sister. In addition, their responses to periodontal basic treatment were different (P < 0.05). After treatment, the improvement of CAL and decline in BOP were more obvious in the elder sister,and the proportion of different periodontal pocket depths in the elder sister decreased after treatment, while the de⁃ crease was slighter in the younger sister. Genetic tests revealed that the twins had the same genotypes at target suscepti⁃ bility genes (IL⁃1β⁃511, IL⁃1β+3953, TNF⁃α⁃308, FcγR⁃IIIb, VDR, and ER) and differential exon gene components, and that the suspected differential genes, e.g. ZFPM1, PTH2, ZFYVE16, and LY6G6C, might be related to their pheno⁃ typic differences.@* Conclusion@#These monozygotic twins had different phenotypes of generalized aggressive periodonti⁃ tis. Their shared susceptibility genes increased the risk of disease, and their different genetic mutations affected the phe⁃ notype of the disease

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)

Predictive value of first-trimester ultrasound markers for complicated monochorionic diamniotic twins / 中华围产医学杂志

Objective@#To investigate the value of first-trimester ultrasound parameters in predicting complicated monochorionic diamniotic (MCDA) twins.@*Methods@#In this retrospective study, pregnant women diagnosed as MCDA twins by ultrasound in the First Affiliated Hospital of Sun Yat-sen University from January 2013 to January 2018 were recruited and divided into the following four groups: non-complicated MCDA twins group, twin-twin transfusion syndrome (TTTS) group, selective intrauterine growth restriction (sIUGR) group and twin anemia-polycythemia sequence (TAPS) group. Thickness of nuchal translucency (NT), crown-rump length (CRL), umbilical cord insertion (UCI) and ductus venosus (DV) flow at 11-14 weeks of gestation were recorded. The predictive value for complicated MCDA twins was analyzed using t-test, Chi-square (or Fisher's exact) test, multivariate logistic regression analysis and receiver operating characteristic (ROC) curve.@*Results@#(1) A total of 430 MCDA twin pregnancies were included in this study with 152 in the TTTS group, 142 in the sIUGR group, seven in the TAPS group and 129 in the normal MCDA twins group. No further analysis was performed on the TAPS group due to the small sample size. (2) NT discordance in twins of the TTTS group was significantly greater than that in the normal MCDA twins group[(21.5±16.0)% vs (14.6±13.5)%, t=-3.533, P<0.001]. The area under ROC curve (AUC) of TTTS predicted by NT discordance was 0.649. Stratified analysis showed that TTTS was best predicted when NT discordance was 20% with the sensitivity of 57.9% and specificity of 70.6%. (3) The sIUGR group had greater discordance in CRL and NT and higher UCI discordance than the normal MCDA twins group [NT: (27.8±21.3)% vs (14.6±13.5)%, t=-5.556, P<0.001; CRL: (8.6±6.9)% vs (5.4±4.4)%, t=-3.144, P=0.002; UCI: 47.9% (68/142) vs 13.9% (18/129), χ2=35.929, P<0.001]. The AUC of sIUGR was 0.675 predicted by NT discordance and 0.649 by CRL discordance. Stratified analysis showed that NT discordance of 20% and CRL discordance of 10% were the best prediction for sIUGR with the sensitivity of 53.1% and 34.7% and specificity of 72.1% and 83.8%, respectively. Multivariate logistic regression analysis suggested that UCI discordance was the risk factor for sIUGR (OR=7.165, 95%CI: 2.637-19.472).@*Conclusions@#MCDA twins with NT discordance greater than 20% during early pregnancy are at increased risk for TTTS. CRL discordance greater than 10%, NT discordance greater than 20% and abnormal UCI are risk factors for sIUGR.

Predictive value of first-trimester ultrasound markers for complicated monochorionic diamniotic twins / 中华围产医学杂志

Objective To investigate the value of first-trimester ultrasound parameters in predicting complicated monochorionic diamniotic (MCDA) twins. Methods In this retrospective study, pregnant women diagnosed as MCDA twins by ultrasound in the First Affiliated Hospital of Sun Yat-sen University from January 2013 to January 2018 were recruited and divided into the following four groups: non-complicated MCDA twins group, twin-twin transfusion syndrome (TTTS) group, selective intrauterine growth restriction (sIUGR) group and twin anemia-polycythemia sequence (TAPS) group. Thickness of nuchal translucency (NT), crown-rump length (CRL), umbilical cord insertion (UCI) and ductus venosus (DV) flow at 11-14 weeks of gestation were recorded. The predictive value for complicated MCDA twins was analyzed using t-test, Chi-square (or Fisher's exact) test, multivariate logistic regression analysis and receiver operating characteristic (ROC) curve. Results (1) A total of 430 MCDA twin pregnancies were included in this study with 152 in the TTTS group, 142 in the sIUGR group, seven in the TAPS group and 129 in the normal MCDA twins group. No further analysis was performed on the TAPS group due to the small sample size. (2) NT discordance in twins of the TTTS group was significantly greater than that in the normal MCDA twins group[(21.5±16.0)% vs (14.6±13.5)%, t=－3.533, P<0.001]. The area under ROC curve (AUC) of TTTS predicted by NT discordance was 0.649. Stratified analysis showed that TTTS was best predicted when NT discordance was 20% with the sensitivity of 57.9% and specificity of 70.6%. (3) The sIUGR group had greater discordance in CRL and NT and higher UCI discordance than the normal MCDA twins group [NT: (27.8±21.3)% vs (14.6±13.5)%, t=－5.556, P<0.001; CRL: (8.6±6.9)% vs (5.4±4.4)%, t=－3.144, P=0.002; UCI: 47.9% (68/142) vs 13.9% (18/129), χ2=35.929, P<0.001]. The AUC of sIUGR was 0.675 predicted by NT discordance and 0.649 by CRL discordance. Stratified analysis showed that NT discordance of 20% and CRL discordance of 10% were the best prediction for sIUGR with the sensitivity of 53.1% and 34.7% and specificity of 72.1% and 83.8%, respectively. Multivariate logistic regression analysis suggested that UCI discordance was the risk factor for sIUGR ( OR=7.165, 95% CI : 2.637-19.472). Conclusions MCDA twins with NT discordance greater than 20% during early pregnancy are at increased risk for TTTS. CRL discordance greater than 10%, NT discordance greater than 20% and abnormal UCI are risk factors for sIUGR.

Analysis of clinical characteristics of discordant structural malformations in one of monochorionic diamnionic twins / 中华妇产科杂志

Objective To analyze the clinical characteristics of structural malformations in one of monochorionic diamnionic twins (MCDA). Methods The clinical data of 77 MCDA patients with structural malformations diagnosed by ultrasound were retrospectively reviewed from January 2012 to May 2017. The distribution of structural malformations, prenatal chromosomal karyotyping and pregnancy outcomes were analyzed. Results (1)Among the 77 MCDA patients with structural malformations, the single malformation accounted for 79％(61/77), the multiple malformations accounted for 21％(16/77). And there were a total of 94 types of malformations, the top three malformations were neurological malformations (32％, 30/94), cardiovascular malformations (29％,27/94) and twin reversed arterial perfusion sequence (TRAPS;10％,9/94). (2)Among the 77 patients with structural malformation, 64 cases (83％, 64/77) were examined for fetal chromosomes, of whom 14 cases (22％,14/64) were examined for fetal chromosomes of both twins, with 1 case (1/14) of discordant fetal chromosome. (3)Among the 77 patients, 4 cases (5％, 4/77) with severe fetal malformations terminated pregnancy. Totally 29 cases (38％, 29/77) with severe malformations were treated with selective fetal reduction, among whom 7 cases (24％, 7/29) experienced unexplained fetal death within 24 hours after the operation;2 cases (7％, 2/29) happened inevitable abortion, and 2 cases (7％, 2/29) underwent unexplained fetal death during the late pregnancy. Of the remaining 44 patients (57％,44/77) with expectant treatment, 13 cases (30％, 13/44) occurred twin transfusion syndrome (Ⅱ-Ⅳ), and were treated with fetoscopic laser occlusion. Eight patients had 2 survival twins, 4 patients delivered 1 survival twin, and 1 patient had dead twins. Conclusions The most common malformations in MCDA twins are the nervous malformations, cardiovascular malformations and TRAPS. The chromosome karyotype of MCDA twins with structural malformations are sometimes discordant, and separate samling of the twins is suggested for prenatal diagnosis. Selective fetal reduction could be given to severe structural malformation in MCDA patients safely and effectively. For non-severe structural malformation in MCDA patients with twin transfusion syndrome, fetoscopic laser occlusion is safe and effective.

Growth follow-up of monochorionic diamniotic twins discordant for birth weight during their first 24 months of life / 中华围产医学杂志

Objective To assess the growth of monochorionic diamniotic (MCDA) twins discordant for birth weight during their first 24 months of life.Methods Clinical data and growth parameters from birth to 24 months of age of 31 pairs(62 cases) of birth weight-discordant MCDA twins (≥ 25％ difference in birth weight) who were born alive in the First Affiliated Hospital,Sun Yat-sen University between January 1,2010 and June 30,2016 were retrospectively analyzed.Each pair of twins was divided into the large birth weight group (31 cases) and the small birth weight group (31 cases).All datas were statistically analyzed with Chisquare test,paired t test,analysis of variance or LSD-t test.Results (1) The incidence of birth defects and hypoproteinemia in the small birth weight group were higher than that in the large birth weight group [29.0％ (9/31) vs 0.0％ (0/31),54.8％ (17/31) vs 25.8％ (8/31);x2=8.319 and 5.429;both P ＜ 0.05].(2) The standard deviation scores (SDS) of weight,length and head circumference at birth and 1,6,12,18 and 24 months of age of the small birth weight group were lower than those of the large birth weight group [birth:(-2.00 ± 0.66) vs (-0.04±0.60),(-1.83±1.13) vs (-0.37±0.83),(-1.42±1.03) vs (0.17±0.84),t=17.214,8.390 and 7.759;1 month:(-1.77±0.81) vs (-0.60±0.65),(-2.36±1.20) vs (-0.94±0.74),(-1.71±1.26) vs (-0.44± 1.09),t=9.424,9.059 and 7.197;6 months (-1.00±0.84) vs (-0.09±0.56),(-1.31 ± 1.22) vs (-0.04±0.80),(0.30±1.51) vs (1.11 ± 1.20),t=-7.578,7.988 and 6.091;12 months:(-0.34±1.06) vs (0.47±0.79),(-1.00±0.92) vs (-0.14±0.73),(-0.16±0.76) vs (0.49±0.58),t=5.747,7.155 and 5.664;18 months:(-0.06±0.95) vs (0.74±0.66),(-0.92± 1.07) vs (-0.24±0.92),(-0.32±0.72) vs (0.29±0.66),t=6.153,4.496 and 3.877;24 months:(0.20±0.79) vs (0.88±0.62),(-0.66±0.59) vs (0.01 ±0.67),(-0.37±0.60) vs (0.34±0.68),t=5.317,4.800 and 4.905;all P ＜ 0.001].However,the changes in SDS (△ SDS) of weight,length and head circumference from birth to 24 months of age and the incidence of △ SDS ＞ 0.67 were significantly higher in the small birth weight group than those in the large birth weight group [△SDS:(2.20± 1.10) vs (0.92±0.91),(1.17± 1.21) vs (0.37± 1.14),(1.05± 1.07) vs (0.16±0.89),t=8.422,3.918 and 3.547,all P ＜ 0.001;△SDS ＞ 0.67:93.5％ (29/31) vs 61.3％ (19/31),61.3％ (19/31) vs 35.5％ (11/31),61.3％ (19/31) vs 29.0％ (9/31),x2=9.226,4.133 and 6.53 1,all P ＜ 0.05].(3) The difference in SDS for weight,length and head circumference between the large and small birth weight twins at 24 months of age were significantly lower than those at birth [(0.68 ± 0.71) vs (1.95 ± 0.63),(0.67 ± 0.77) vs (1.46± 0.97),(0.71 ± 0.80) vs (1.60±1.15);all P ＜ 0.05].Conclusions Growth differences are found between birth weight-discordant MCDA twins all the way to 24 months of age from birth at a reduced trend.