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1.
Autops. Case Rep ; 14: e2024477, 2024. tab, graf
Article in English | LILACS-Express | LILACS | ID: biblio-1533855

ABSTRACT

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.

2.
Article | IMSEAR | ID: sea-222310

ABSTRACT

Fetal reduction is a novel method that aims to reduce a higher-order gestation to lower-order pregnancy to reduce both maternal and perinatal adverse outcomes. One of the methods of fetal reduction is by intracardiac injection of KCl under ultrasound guidance. Here, we present a case series ofeight women who had undergone fetal reduction. All of them were trichorionic triamniotic triplets at the time of reduction. In seven women, the reduction was done to twin gestation, whereas one reduction was to singleton pregnancy. Out of eight cases, only one carried to full term and underwent vaginal delivery. One case was lost to follow-up and 2 women underwent expulsion. A total of nine live births were reported with 8 babies going to the neonatal intensive care unit for low birth weight and preterm care. Fetal reduction is an important method that needs to be widely practiced and reported to improve maternal and perinatal outcomes in multifetal gestation.

3.
FEMINA ; 51(1): 43-48, jan. 31, 2023. ilus
Article in Portuguese | LILACS | ID: biblio-1428680

ABSTRACT

A perfusão arterial reversa gemelar é uma anormalidade rara que pode ocorrer em gestações gemelares monocoriônicas. Consiste em uma alteração na circulação fetoplacentária, com desvio de sangue de um dos gemelares para o outro, por meio de anastomoses arterioarteriais e venovenosas na superfície placentária e anastomoses arteriovenosas em áreas de circulação placentária compartilhada. O feto bombeador pode desenvolver insuficiência cardíaca devido ao aumento do débito cardíaco, e o feto receptor, perfundido por sangue pobre em oxigênio por meio do fluxo reverso, é severamente malformado, incompatível com a vida extrauterina. Este artigo apresenta o caso de uma gestação gemelar monocoriônica diamniótica, com manejo clínico conservador. O objetivo é relatar um caso de complicação rara de gestações monozigóticas e revisar condutas para diagnóstico e manejo adequado.(AU)


Twin reverse arterial perfusion is a rare abnormality that can occur in monochorionic twin pregnancies. It consists of an alteration in the fetal-placental circulation, with blood diversion from one of the twins to the other, through arterio-arterial and veno- venous anastomosis on the placental surface and arterio-venous anastomosis in areas of shared placental circulation. The pumping fetus may develop heart failure due to increased cardiac output, and the recipient fetus, perfused by oxygen-poor blood through reverse flow, is severely malformed, incompatible with extrauterine life. This article presents the case of a monochorionic diamniotic twin pregnancy, with conservative clinical management. The objective is to report a case of rare complication of monozygotic pregnancies and review procedures for diagnosis and adequate management.(AU)


Subject(s)
Humans , Female , Pregnancy , Infant, Newborn , Pregnancy Complications/physiopathology , Arteriovenous Anastomosis/abnormalities , Umbilical Arteries/abnormalities , Congenital Abnormalities/diagnostic imaging , Pregnancy, High-Risk , Twinning, Monozygotic , Fetofetal Transfusion/complications , Brazil , Placental Circulation , Fetal Death , Fetal Monitoring , Umbilical Cord Clamping , Obstetric Labor, Premature
4.
Chinese Journal of Neonatology ; (6): 455-459, 2023.
Article in Chinese | WPRIM | ID: wpr-990772

ABSTRACT

Objective:To study the correlation of bone metabolism biomarkers between newborn twins and their mothers during pregnancy.Methods:From January 1, 2018 to June 30, 2022, newborn twins with mild symptoms admitted to the neonatal department of our hospital were retrospectively reviewed. The clinical data of the twins and their mothers were collected, including bone metabolism biomarkers of the twins within 3 d after birth and their mothers within last month during pregnancy. The twins were assigned into different groups according to gestational age(GA), birth weight(BW), the relationship between BW and GA(appropriate for GA(AGA),small for GA(SGA) and large for GA(LGA), birth season, gender, and the mothers' age, ethnicity, pre-delivery body mass index (BMI), gestational BMI increase, number of births and chorionic properties. The correlations of bone metabolism biomarkers between the twins and their mothers were analyzed.Results:A total of 302 pairs of twins were included. The incidence of insufficient or deficient serum 25-(OH)D 3 was 97.4% among the mothers, and 87.7% among the twins. The levels of blood phosphorus ( r=0.262, P<0.001) and 25-(OH)D 3 ( r=0.239, P=0.002) in mothers were positively correlated with the twin with larger BW. No significant differences existed in 25-(OH)D 3 between genders, AGA,SGA and LGA, birth season, and mothers' age, ethnicity, pre-delivery BMI, gestational BMI increase and chorionic properties( P>0.05). 25-(OH)D 3 in the twins were positively correlated with BW and 25-(OH)D 3 of mothers before delivery ( P<0.05) and negatively correlated with number of births ( P<0.05). Conclusions:In most mothers and their newborn twins, 25-(OH)D 3 are insufficient or deficient. The levels of blood phosphorus and 25-(OH) D 3 are correlated between the newborns and their mothers. The lower the BW of the newborn, the more times the mother give birth and the lower the mother's pre-delivery 25-(OH)D 3 level, the lower the newborn's 25-(OH)D 3 level.

5.
Article in English | LILACS | ID: biblio-1507323

ABSTRACT

Resumo Objectives: to determine the prevalence of pathological findings according to the type of chorionicity in pregnancies in two institutions in Bogotá, Colombia. Methods: descriptive, retrospective, cohort study. Biometric variables were calculated, and pathological findings were evaluated according to the type of chorionicity in multiple pregnancies. Statistical characterization was performed with absolute frequencies, calculation of relative frequencies in qualitative variables, standard deviation measures, median and interquartile range. In addition, a descriptive analysis of the information was carried out. Results: 528 studies were carried out in 141 pregnant women, 98.5% (n = 139) twins and 1.4% (n = 2) triplets. A prevalence of 35.4% of fetal complications was calculated. The most frequent was fetal growth restriction (p=0.37). According to each type of chorionicity, fetal growth restriction was presented in 50% (1/2) of the trichorionics, 16.6% (7/42) of the monochorionics, and 11.3% (11/97) of the dichorionics. Conclusion: fetal growth restriction was the most common finding, both in trichorionics, monochorionics and dichorionics pregnancies.


Resumen Objetivos: el objetivo del estudio fue determinar la prevalencia de los hallazgos patológicos ecográficos en embarazos múltiples de acuerdo con la corionicidad en dos instituciones en Bogotá-Colombia. Métodos: estudio de cohorte, descriptivo, retrospectivo. Las variables biométricas realizadas y los hallazgos patológicos se evaluaron de acuerdo con el tipo de embarazo gemelar. Se realizó caracterización estadística con frecuencias absolutas, cálculo de frecuencias relativas en variables cualitativas, medidas de desviación estándar, mediana y rango intercuartílico. Además, se realizó análisis descriptivo de la información. Resultados: se realizaron 528 estudios en 141 gestantes, encontrando 98,5% (n=139) gemelares y 1,4% (n=2) triples. Se calculó una prevalencia de 35,4% de complicaciones fetales siendo más frecuente la restricción del crecimiento fetal (p=0,37). Según la corionicidad, esta complicación se presentó en 50% (1/2) de los tricoriónicos, 16,6% (7/42) de los monocoriónicos y 11,3% (11/97) de los dicoriónicos. Conclusión: la restricción del crecimiento fetal fue el hallazgo más común en los embarazos múltiples en la población estudiada.


Subject(s)
Humans , Female , Pregnancy , Pregnancy Complications/epidemiology , Pregnancy, Multiple , Pregnancy, Triplet , Pregnancy, Twin , Biometry/methods , Ultrasonography, Prenatal/methods , Colombia/epidemiology , Diseases in Twins , Fetal Growth Retardation
6.
Chinese Journal of Neurology ; (12): 543-549, 2023.
Article in Chinese | WPRIM | ID: wpr-994865

ABSTRACT

Sialidosis is a rare lysosomal storage disease caused by NEU1 gene mutation at 6p21.33. It is characterized by myoclonic, ataxia, epilepsy, and decreased vision. A pair of twins with sialidosis type 1 are reported to enrich clinicians ′ understanding of the disease, so as to improve the diagnosis and treatment. The proband was a 16-year-old male. The main symptom was intermittent limb involuntary trembling for 2 years, with paroxysmal loss of consciousness. Fundus examination showed cherry-red spots. His twin brother had similar symptoms, but the overall performance was mild. Whole exome sequencing results showed that both patients carried compound heterozygous mutations of c.239C>T (p.P80L) and c.803A>G (p.Y268C) in NEU1 gene, which were from their normal phenotype mother and father.

7.
Chinese Journal of Ultrasonography ; (12): 205-210, 2023.
Article in Chinese | WPRIM | ID: wpr-992824

ABSTRACT

Objective:To screen the ultrasound markers of predictive value at 11-13 + 6 weeks for selective fetal growth restriction (sFGR) in monochorionic (MC) twins. Methods:A retrospective analysis of MC twin pregnancies collected prospectively from June 2020 to December 2021 at Beijing Obstetrics and Gynecology Hospital, Capital Medical University, with standardized ultrasound examinations performed at 11-13 + 6 weeks.According to the expert consensus on the diagnostic criteria for sFGR, collected MC twin pregnancies were divided into sFGR group and control group (normal MC twin group). Maternal age, maternal history, mode of conception, the incidence of increased nuchal translucency (NT) thickness, NT discordance, crown-rump length (CRL) discordance, abnormal ductus venous Doppler waveform and abnormal umbilical cord insertion position were compared between the two groups, and those markers that differed between groups were further analyzed for screening early ultrasound markers that could be used to predict sFGR. Results:A total of 106 cases were included in the analysis, 30 cases in sFGR group and 76 cases in control group. ①Compared with control group, sFGR group had a higher incidence of low fetal birth weight (below the 10th and 3rd percentile) in both surviving cases, large birth weight discordance and a higher incidence of birth weight inconsistency (difference >25%) ( P<0.001). ②Compared with control group, the CRL discordance was larger in sFGR group [7.8% (3.8%, 9.2%) versus 3.8% (1.5%, 7.2%)] and the incidence of abnormal cord insertion position (33.3% versus 6.6%) was higher, the differences were statistically significant ( P=0.004 and <0.001, respectively), whereas the differences of NT discordance, incidence of increased NT and abnormal ductus venous Doppler waveform were not statistically significant (all P values >0.05). ③CRL discordance was a risk factor for sFGR ( OR=1.136, 95% CI=1.021-1.264), with an area under the ROC curve of 0.682 (95% CI=0.576-0.787) for predicting sFGR, the sensitivity and specificity were 0.567 and 0.737 at a cut-off value of 6.5%. Abnormal umbilical cord insertion position was a risk factor for sFGR ( OR=7.100, 95% CI=2.176-23.167) with a sensitivity of 0.333 and specificity of 0.934 for predicting sFGR. Conclusions:CRL discordance and abnormal cord insertion position are risk factors for the development of sFGR and are of value in predicting sFGR in MC twins.

8.
Rev. Bras. Odontol. Leg. RBOL ; 9(3): 93-104, 2022-12-30.
Article in Portuguese | LILACS-Express | LILACS | ID: biblio-1525053

ABSTRACT

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

9.
Braz. j. oral sci ; 21: e225388, jan.-dez. 2022. ilus
Article in English | LILACS, BBO | ID: biblio-1366211

ABSTRACT

Genetic and environmental factors are essential in occlusal variations and malocclusion and have been of considerable interest to orthodontists. Studies on twin pairs are one of the most effective methods for investigating genetically determined occlusal variables. Many studies have focused on distances between first molars or between canines but malocclusions can also occur in other regions of the dental arch. Aim: To evaluate the characteristics of the dental arch between pairs of Monozygotic (MZ) and Dizygotic (DZ) twins from Southern India. Methods: A random sample of 51 twin pairs (12­18years old) participated in this study. The zygosity of twin pairs was recorded by facial appearance. The occlusion of the first permanent molars was recorded according to Angle's classification. Study models were prepared to assess dental arch characteristics (i.e., arch form, arch perimeter, arch length; intercanine, intermolar width, and teeth size discrepancy). The obtained data was statistically analyzed using SPSS software 19.0. The student's t-test (two-tailed, independent) and Chi-square test was used to determine the significance of studied parameters. Results: Angle's Class I molar relation was more commonly observed followed by the Class II molar relationship among twins. The measured dental arch dimensions did not show a statistically significant difference among twin pairs. The ovoid arch form was commonly observed among Monozygotic and Dizygotic Twins. There was a similarity among MZ and DZ twins in the anterior and overall Bolton's ratio. Conclusion: There were similar occurrences of measured parameters among twins, which showed genetic predominance in the expression of measured dental arch traits


Subject(s)
Humans , Male , Female , Child , Adolescent , Twins, Dizygotic , Twins, Monozygotic , Dental Arch/anatomy & histology , India
11.
Indian J Ophthalmol ; 2022 Jul; 70(7): 2610-2611
Article | IMSEAR | ID: sea-224441

ABSTRACT

To the best of the author’s knowledge, bilateral megalopapilla are entities with an unknown inheritance pattern, and this is the first case presentation of bilateral megalopapilla in twin siblings. One of the twins presented to the outpatient department with a frontal headache, while the other was asymptomatic. Upon examination of the first family members, the asymptomatic paternal grandfather had a similar presentation of megalopapilla. As a result, this report will help in determining the genetic pattern of development of this optic disc anomaly, as well as its crucial differential diagnosis.

12.
Article in Spanish | LILACS-Express | LILACS | ID: biblio-1424329

ABSTRACT

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.

13.
Estud. pesqui. psicol. (Impr.) ; 22(2): 752-772, jun. 2022.
Article in English, Spanish, Portuguese | LILACS, INDEXPSI | ID: biblio-1428968

ABSTRACT

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.


Subject(s)
Humans , Female , Pregnancy , Twins , Child Development , Parenting , Emotions , Pregnancy, Twin , Motivation , Perception , Personal Narrative , Mother-Child Relations
14.
Rev. peru. ginecol. obstet. (En línea) ; 68(1): 00015, ene.-mar. 2022. graf
Article in Spanish | LILACS-Express | LILACS | ID: biblio-1409995

ABSTRACT

RESUMEN El parto asincrónico (PA) o parto diferido (PD) es una presentación poco prevalente de la gestación múltiple. Este ocurre cuando un feto nace por vía vaginal y el -o losfetos restantes se mantienen intraútero y nacen con una diferencia de días o semanas. Se realiza el primer reporte en el Perú de una gestante cuyo primer parto fue a las 20,1 semanas y el segundo a las 24,4 semanas, y se detalla el manejo y los resultados perinatales del caso. La evidencia sugiere que un PD mejora la supervivencia y reduce la morbimortalidad del segundo feto. Es imprescindible continuar la investigación en este tema para describir su prevalencia real, identificar candidatas ideales, estandarizar el manejo obstétrico y así optimizar resultados maternos y fetales.


ABSTRACT Asynchronous delivery (AD) or delayed interval delivery (DID) is a rare presentation of multiple gestation. This occurs when one fetus is delivered vaginally and the remaining fetus or fetuses are kept in utero and are born with a difference of days or weeks. This is the first report in Peru of a pregnant woman whose first delivery was at 20.1 weeks and the second at 24.4 weeks, and the management and perinatal results of the case are detailed. The evidence suggests that a DID improves survival and reduces morbidity and mortality of the second fetus. Further research on this topic is essential to describe its real prevalence, identify ideal candidates, standardize obstetric management and thus optimize maternal and fetal outcomes.

15.
Chinese Journal of Orthopaedics ; (12): 1054-1064, 2022.
Article in Chinese | WPRIM | ID: wpr-957099

ABSTRACT

Objective:To compare the genotypes and phenotypes between the monozygotic twins via whole genome sequencing to further clarify the autosomal dominant inherited neurofibromatosis type 1 (NF1) variants related to congenital pseudarthrosis (CP).Methods:According to the diagnostic criteria of congenital tibial pseudarthrosis and the clinical diagnostic criteria of NF1, two pairs of monozygotic twins with NF1 were included. Both were female and only one of each pair had congenital pseudarthrosis. The other did not have congenital pseudarthrosis. Whole genome sequencing was performed using the peripheral blood of the two pairs of monozygotic twins. Customized bioinformatics analysis was then performed to identify single nucleotide variants (SNVs), short insertion deletion variants (InDel), copy number variants (CNVs), and structural variants (SVs). Classified the variants according to the American College of Medical Genetics and Genomics (ACMG) and ClinGen criteria. The germline variants within the monozygotic twins were compared to identify the CP patients' unique variants. The shared pathogenic or likely pathogenic germline variants between the unique variants in the CP patients from the twins were also analyzed. Further, the identified disease-causing variants were validated by Sanger sequencing in the family of the twins and their parents. Finally, the genotypes and phenotypes regarding the pathogenic variants of the NF1 gene among the twins were characterized. Results:Both the two monozygotic twins were identified pathogenic variants in the NF1 gene. One with c.3047_3048del (p.Cys1016SerfsTer4), and the other with c.4267A>G (p.Lys1423Glu). By Sanger sequencing validation in family quads, the two CP patients and their siblings harbored de novo heterozygous variants of the NF1 gene. In addition to the NF1 gene, no other genes were identified pathogenic or likely pathogenic variants uniquely in the CP patients compared with their twin sisters, as well as SVs and CNVs. In addition, by analyzing the rare and damaging variants in the two CP patients from the two twins, they had no overlapping genes against the SNVs, InDels, SVs, or CNVs. Conclusion:Whole genome sequencing revealed that both the two monozygotic twins with NF1 were detected pathogenic variants of gene NF1. No other pathogenic variants specific to the CP patients among the twins were identified. The two CP patients shared no other common genes from the detected likely pathogenic variants.

16.
Chinese Journal of Contemporary Pediatrics ; (12): 33-40, 2022.
Article in English | WPRIM | ID: wpr-928563

ABSTRACT

OBJECTIVES@#To investigate the clinical treatment outcomes and the changes of the outcomes over time in extremely preterm twins in Guangdong Province, China.@*METHODS@#A retrospective analysis was performed for 269 pairs of extremely preterm twins with a gestational age of <28 weeks who were admitted to the department of neonatology in 26 grade A tertiary hospitals in Guangdong Province from January 2008 to December 2017. According to the admission time, they were divided into two groups: 2008-2012 and 2013-2017. Besides, each pair of twins was divided into the heavier infant and the lighter infant subgroups according to birth weight. The perinatal data of mothers and hospitalization data of neonates were collected. The survival rate of twins and the incidence rate of complications were compared between the 2008-2012 and 2013-2017 groups.@*RESULTS@#Compared with the 2008-2012 group, the 2013-2017 group (both the heavier infant and lighter infant subgroups) had lower incidence rates of severe asphyxia and smaller head circumference at birth (P<0.05). The mortality rates of both of the twins, the heavier infant of the twins, and the lighter infant of the twins were lower in the 2013-2017 group compared with the 2008-2012 group (P<0.05). Compared with the 2008-2012 group, the 2013-2017 group (both the heavier infant and lighter infant subgroups) had lower incidence rates of pulmonary hemorrhage, patent ductus arteriosus (PDA), periventricular-intraventricular hemorrhage (P-IVH), and neonatal respiratory distress syndrome (NRDS) and a higher incidence rate of bronchopulmonary dysplasia (P<0.05).@*CONCLUSIONS@#There is a significant increase in the survival rate over time in extremely preterm twins with a gestational age of <28 weeks in the 26 grade A tertiary hospitals in Guangdong Province. The incidences of severe asphyxia, pulmonary hemorrhage, PDA, P-IVH, and NRDS decrease in both the heavier and lighter infants of the twins, but the incidence of bronchopulmonary dysplasia increases. With the improvement of diagnosis and treatment, the multidisciplinary collaboration between different fields of fetal medicine including prenatal diagnosis, obstetrics, and neonatology is needed in the future to jointly develop management strategies for twin pregnancy.


Subject(s)
Female , Humans , Infant , Infant, Newborn , Pregnancy , Bronchopulmonary Dysplasia/epidemiology , Gestational Age , Infant, Extremely Premature , Respiratory Distress Syndrome, Newborn/epidemiology , Retrospective Studies , Treatment Outcome
17.
Chinese Journal of Urology ; (12): 936-937, 2022.
Article in Chinese | WPRIM | ID: wpr-993952

ABSTRACT

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.

18.
Chinese Journal of Hospital Administration ; (12): 270-273, 2022.
Article in Chinese | WPRIM | ID: wpr-958772

ABSTRACT

Technical framework is centered on top-level design of smart hospitals. Guangdong Second Provincial General Hospital adopted hospital intelligent twins as its technical framework of the all-scenario intelligent construction. Its construction practices covered four layers of intelligent interaction, intelligent connection, intelligent hub and intelligent application. These practices can advance the construction of smart hospitals into the all-scenario intelligent stage, featuring intelligent medical treatment, intelligent service and intelligent management, thus providing reference for promoting the construction of smart hospitals and realizing the digital transformation of medical industry.

19.
Chinese Journal of Hospital Administration ; (12): 266-269, 2022.
Article in Chinese | WPRIM | ID: wpr-958771

ABSTRACT

Application of new technical means and methods and in-depth exploration in medical service scenarios, for improving the efficiency and quality of diagnosis and treatment, improving the operation and management level and patient′s medical experience are the goals aimed by smart hospitals. Guangdong Second Provincial General Hospital, based on the technical framework of hospital intelligent twins, was exploring to build an all-scenario smart hospital. The hospital built an intelligent operations center, all-scenario smart wards and a smart security and fire protection integrated management center. These practices promoted the service synergy, provided efficient internet of everything experience, and promoted the integrated linkage management of security and fire protection. The hospital effective resolved such deficiencies as insufficient data connectivity, fragmented application scenarios, limited coverage and poor mobility, hence providing reference for the construction and application of whole-scenario smart hospitals.

20.
Chinese Journal of Perinatal Medicine ; (12): 809-815, 2022.
Article in Chinese | WPRIM | ID: wpr-958145

ABSTRACT

Objective:To investigate the prenatal genetic features and the factors influencing the prognosis of twin reversed arterial perfusion sequence (TRAPS) in monochorionic twin pregnancies.Methods:A total of 99 cases diagnosed with TRAPS by prenatal ultrasound in the First Affiliated Hospital of Sun Yat-sen University from July 1, 2007, to December 31, 2021, were included retrospectively. The prenatal genetic features of acardiac and pump twins were analyzed. Eighty-nine cases were followed up and divided into two groups: the expectation group ( n=45) and the intrauterine intervention group (all underwent radiofrequency ablation, n=44) and the pregnancy outcomes were compared between the two groups. After excluding eight cases without complete ultrasound data, the expectation group was further divided into two subgroups: the pump fetus survival ( n=28) and the pump fetus death groups ( n=9), and the survival subgroup was divided into the spontaneous arrest group ( n=16) and coexistence group ( n=12) according to whether or not the blood flow stopped spontaneously.The relationship between ultrasonic indexes and pregnancy outcome was compared between the groups. Chi-square test (or Fisher's exact test), univariate logistic regression analysis and receiver operating characteristic (ROC) curve were used to analyze the relationship between the estimated acardiac to pump twin weight ratio (A/P Wt) and the pregnancy outcome of the pump twin in the expectation group. Results:(1) The median gestational age at diagnosis of the 99 TRAPS cases was 16.4 weeks (13.3- 21.3 weeks) and 32% (32/99) were diagnosed in the first trimester. Most of the cases were monochorionic diamniotic pregnancies (72/99, 73%). The survival rate of the pump twins was 71% (63/89). (2) Chromosome karyotyping and/or chromosomal microarray analysis was performed in 19 acardiac twins and 82 pump twins. The detection rate of genetic abnormalities in the acardiac twins was higher than that in the pump twins [4/19 vs 5% (4/82), Fisher's exact test, P=0.039]. Chromosomal microarray analysis was performed in 54 pump twins with normal karyotypes and the results showed three (6%) with genetic abnormalities. (3) In the expectation group, the area under ROC curve for the prenatal A/P Wt were 0.913 in predicting pump twin death and 0.807 in predicting spontaneous cessation of blood flow in the cardiac twin, and the cut-off values were 0.24 (sensitivity: 88.9%, specificity: 96.4%) and 0.11 (sensitivity: 75.0%, specificity: 81.3%), respectively. The survival rate of pump twins with abnormal cardiac function after intrauterine intervention was higher than that of the expectant group [72% (18/25) vs 3/11, Fisher's exact test, P=0.025]. Conclusions:TRAPS can be diagnosed in the first trimester and commonly occur in monochorionic diamniotic pregnancies. The detection rate of genetic abnormalities in the acardiac twins is higher than that in the pump twins. Prenatal A/P Wt>0.24 indicates the death of the pump twin and prenatal A/P Wt≤0.11 suggests a high possibility of spontaneous cessation of blood flow in the acardiac twin. Radiofrequency ablation is an effective method for improving the prognosis of the pump twin with cardiac dysfunction.

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