O efeito conjunto de gemelaridade e prematuridade no aleitamento materno exclusivo na alta hospitalar / The joint effect of twinning and prematurity on exclusive breastfeeding at hospital discharge / El efecto conjunto de la gemelaridad y la prematuridad en la lactancia materna exclusiva al momento del alta hospitalaria

Objetivo: estimar a prevalência de Aleitamento Materno Exclusivo (AME) entre gemelares pré-termos e investigar o efeito de nascer gemelar e pré-termo no AME na alta hospitalar. Método: coorte prospectiva de recém-nascidos em uma instituição localizada no Rio de Janeiro, no período de 13 de março de 2017 a 12 de outubro de 2018. Dados coletados em questionário e prontuário médico. Foi utilizado DAG para construção do modelo conceitual, análise exploratória dos dados e regressão logística múltipla. Resultados: a prevalência de AME na alta hospitalar de gemelares pré-termos foi de 47,8%. Pré-termos apresentaram maior chance de não estarem em AME na alta hospitalar. Não gemelares apresentaram maior chance de não estarem em AME na alta hospitalar. Conclusão: pouco mais da metade dos gemelares pré-termo não estavam em AME na alta hospitalar. Prematuros tiveram maior chance de não estarem em AME. Não gemelares pré-termo apresentaram maior chance de não estarem em AME.

Objective: to estimate the prevalence of Exclusive Breastfeeding (EBF) in preterm twins and to investigate the effect of twin and preterm birth on EBF at hospital discharge. Method: prospective cohort of newborns in an institution located in Rio de Janeiro, from March 13, 2017, to October 12, 2018. Data collected through a questionnaire and medical records. A DAG was used to build the conceptual model, exploratory data analysis and multiple logistic regression. Results: prevalence of EBF at hospital discharge of preterm twins of 47.8%. Preterm infants were more likely to not be on EBF at hospital discharge. Non-twins were more likely to not be on EBF at hospital discharge. Conclusion: just over half of preterm twins were not on EBF at hospital discharge. Preterm infants had a greater chance of not being on EBF. Preterm non-twins were more likely to not be on EBF.

Objetivo: estimar la prevalencia de Lactancia Materna Exclusiva (LME) entre gemelos prematuros y investigar el efecto de nacer gemelo y prematuro en la LME al momento del alta hospitalaria. Método: cohorte prospectiva de recién nacidos en una institución ubicada en Rio de Janeiro, entre 13//marzo/2017 y 12/octubre/2018. Los datos se recolectaron mediante cuestionario y expediente médico. Se utilizó DAG para la construcción del modelo conceptual, análisis exploratorio de los datos y regresión logística múltiple. Resultados: la prevalencia de LME en el alta hospitalaria de gemelos prematuros fue del 47,8%. Los prematuros tuvieron mayor probabilidad de no estar en LME en el alta hospitalaria. Los no gemelares tuvieron mayor probabilidad de no estar en LME en el alta hospitalaria. Conclusión: poco más de la mitad de los gemelos prematuros no estaban en LME en el alta hospitalaria. Los prematuros tuvieron mayor probabilidad de no estar en LME. Los no gemelos prematuros presentaron mayor probabilidad de no estar en LME.

Analysis of ethical issues related to medical digital twins / 中国医学伦理学

As a “double-edged sword” in emerging medical science and technology， medical digital twins not only bring good news to clinical diagnosis and treatment， but also have a certain impact on the medical ethics system. This paper mainly discussed the ethical risks and challenges involved in the application of digital twins technology in the medical field， such as the scientificity and effectiveness of simulation experimental results， the autonomy of both doctors and patients， issues of privacy and life safety， and potential social injustice. Starting from the four principles of bioethics， such as respect， benefit， non-harm， and justice， this paper analyzed the current situation and explored prevention and treatment countermeasures or suggestions for solving the ethical issues of medical digital twins， with a view to achieving timely， accurate， and effective detection， prevention， and control， to better promote the rational development， innovative application， and healthy development of digital twins technology in the medical field.

Inconsistent patterns of twin growth and their relationship with obstetric adverse outcomes / 中国现代医生

@#Objective To determine different patterns of fetal growth dissonance in twin pregnancies and their predictive role in obstetric adverse outcomes.Methods The medical records of 531cases of twin-pregnancy women who underwent labor examination and delivery in our hospital from January 2014 to december 2021 were retrospectively analyzed.According to the ultrasound parameters during the prenatal examination,the inconsistencies between twins were divided into four modes:mode 1:no significant inconsistencies group(268cases),Mode 2:early progressive inconsistencies(23cases),mode 3:early inconsistencies with plinosis(91cases)and mode 4:late inconsistencies(149cases).The dynamic changes of each model and its correlation with adverse outcomes were investigated.Results Pattern 2 and Pattern 3 inconsistencies>10%(20.5 and 20.7 weeks of gestation)and>20%(27.7 and 26.3weeks of gestation)occurred at similar times.Mode 2 had the highest rate of inconsistent progression(0.92%/week),which peaked at 23.7%at 36weeks of gestation.Mode 3 progressed at a slower rate(0.49%/week),with a smaller variance after 20weeks(from 13.3%at 20weeks to 16%at 36weeks).The onset time of pattern 4 inconsistencies was>10%at 29.8weeks of gestation,and the peak inconsistencies(14.8%)were lower than pattern 2 and pattern Using mode 1(no significant inconsistency)as a reference,after adjusting for relevant covariates,mode 2 and 3 were risk factors for preterm birth and preeclampsia at 34 and 32weeks of gestation,mode 2 was a risk factor for 5-minute Apgar score<7,and mode 2,3,and 4 were risk factors for newborn birth weight<10th percentile.Conclusion According to the occurrence,development and intensity of neonatal growth dissonance,four different dissonance patterns were identified to be associated with different obstetric outcomes.These models provide more predictive information than the single point in time when measurements of fetal size are inconsistent,which is commonly used.

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.

Analysis of clinical characteristic and risk factors for necrotizing enterocolitis in one of the premature twins / 中国新生儿科杂志

Objective:To study the clinical characteristics and risk factors of necrotizing enterocolitis (NEC) in one of the premature twins.Methods:A retrospective study was conducted on twin premature infants who were admitted to the Department of Neonatology at the Third Affiliated Hospital of Zhengzhou University from January 2017 to December 2022 and only one got NEC. The twins were divided into NEC group and control group, the clinical data were collected and analyzed by SPSS 26.0 statistical software.Results:This study enrolled 109 pairs of premature twins, 109 cases in the NEC group, and 109 cases in the control group. Univariate analysis showed that birth weight, pre NEC white blood cell count were lower in NEC group than those in the control group, while the proportion of smaller than gestational age (SGA), donor of twin-to-twin transfusion syndrome, feeding intolerance, incomplete enteral feeding, start feeding time >48 h, red blood cell transfusion 72 h before NEC onset and the neutrophils ratio were higher in the NEC group than that of the control group, the difference was statistically significant ( P<0.05). Multivariate logistic analysis showed that low birth weight ( OR=1.558, 95% CI1.197-2.142), SGA ( OR=1.721, 95% CI 1.217-2.536), feeding intolerance ( OR=3.798, 95% CI 1.347-10.706), and incomplete enteral feeding ( OR=4.319, 95% CI 1.673-11.149) were independent risk factors for NEC ( P<0.05). Conclusions:Low birth weight, small for gestational age, feeding intolerance, and incomplete enteral feeding are independent risk factors for NEC in one of the premature twins.

A series of fetal reductions and their outcomes at a tertiary care center in North Karnataka: Fetal reduction series: A boon?

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.

Perfusão arterial reversa gemelar: revisão da literatura / Twin reverse arterial perfusion: literature review

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)

Impact of assisted reproductive technology on birth weight discordance in twins / 中国当代儿科杂志

OBJECTIVES@#To explore the association between assisted reproductive technology (ART) and birth weight discordance in twins (BWDT).@*METHODS@#A retrospective analysis was conducted on twin infants born between January 2011 and December 2020 at the Third Affiliated Hospital of Guangzhou Medical University, with complete basic birth data. The impact of ART on the occurrence of BWDT was identified by the multivariate logistic regression analysis.@*RESULTS@#A total of 3 974 pairs of twins were included, with 1 431 conceived naturally and 2 543 through ART. Neonates in the ART group had higher birth weights than those in the naturally conceived group (P<0.001). The incidence of BWDT was lower in the ART group compared to the naturally conceived group (16.17% vs 21.09%, P<0.001). The multivariate logistic regression analysis, adjusting for confounding factors such as maternal age, parity, pre-pregnancy body mass index, gestational diabetes, hypothyroidism, gestational age, and chorionic properties, showed no significant difference in the risk of BWDT between the ART and naturally conceived groups (P>0.05).@*CONCLUSIONS@#ART is not associated with the risk of BWDT.

Screening of ultrasound markers for predicting selective fetal growth restriction in monochorionic twins at 11-13 + 6 weeks / 中华超声影像学杂志

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.

The cases of twins with sialidosis type 1 / 中华神经科杂志

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.

m / 中国生物化学与分子生物学报

N6, 2′ -O-dimethyladenosine (m

Biometry and pathological ultrasound findings in multiple pregnancies / Características ecográficas y hallazgos patológicos en embarazos múltiples

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.

Advances in digital twins technology of human skeletal muscle / 生物医学工程学杂志

The human skeletal muscle drives skeletal movement through contraction. Embedding its functional information into the human morphological framework and constructing a digital twin of skeletal muscle for simulating physical and physiological functions of skeletal muscle are of great significance for the study of "virtual physiological humans". Based on relevant literature both domestically and internationally, this paper firstly summarizes the technical framework for constructing skeletal muscle digital twins, and then provides a review from five aspects including skeletal muscle digital twins modeling technology, skeletal muscle data collection technology, simulation analysis technology, simulation platform and human medical image database. On this basis, it is pointed out that further research is needed in areas such as skeletal muscle model generalization, accuracy improvement, and model coupling. The methods and means of constructing skeletal muscle digital twins summarized in the paper are expected to provide reference for researchers in this field, and the development direction pointed out can serve as the next focus of research.

Prenatal sonographic diagnosis of urorectal septum malformation sequence in one of twins: a case report / 中华围产医学杂志

Urorectal septum malformation sequence (URSMS) is a rare congenital complex malformation characterized by severe abnormalities in the urinary, reproductive and digestive systems. It is difficult to diagnose URSMS by prenatal ultrasound due to its complex and variable manifestations. This paper reported a twin with partial URSMS. Prenatal ultrasound findings included pelvic "trilobe" cystic masses, sacrococcygeal hemivertebral malformations, imperforate anus, and transient ascites. Postnatal examination confirmed the diagnosis of URSMS, as the baby girl was born with anal atresia. Her colon, urethra, and vagina converged and formed a common tract with a single perineal opening. The baby died after her parents' refusal to surgical treatment.

Factors influencing transient hypothyroxinemia in one premature twin / 中华围产医学杂志

Objective:To study the factors influencing transient hypothyroxinemia (TH) in one premature twin.Methods:This retrospective study enrolled 283 sets of preterm twins who were born at the gestational age of 26-36 weeks and admitted to the Neonatology Department of the Second Affiliated Hospital of Wenzhou Medical University from June 2009 to September 2021. The levels of thyroxine (T 4), triiodothyronine (T 3) and thyroid stimulating hormone (TSH) were detected at 11-20 d after birth. Finally, 47 sets of twins were further analyzed, in which one twin met the diagnostic criteria of TH (TH group, n=47) and the other twin with exclusion of the diagnosis (control group, n=47). Pearson correlation was used to analyze the correlation of T 4 with gestational age and birth weight. Paired t test, Wilcoxon signed-rank test or McNemar test, and conditional logistic regression were used to analyze the factors influencing TH in premature twins. Results:The gestational age and birth weight of the 47 sets of preterm twins (94 cases) were (31.4±2.3) weeks (26-36 weeks) and (1 611.9±389.3) g (800-2 510 g), respectively. There were 35 sets of dizygotic twins, 11 sets of monozygotic twins, and one set of twins with unknown zygosity. The serum T 4 level in premature infants was positively correlated with the gestational age and birth weight (the correlation coefficients were 0.209 and 0.376, respectively, both P<0.05). Univariate analysis showed that compared with the control group, the factors influencing TH in premature infants ( P<0.1) included female [29.8% (14/47) vs 14.9% (7/47), χ2=3.27 ], bronchopulmonary dysplasia [31.9% (15/47) vs 19.1% (9/47), χ2=3.13], birth weight [(1 547.9±348.0) vs (1 676.0±420.5) g, t=－3.61], white blood cell count [(10.0±3.3)×10 9/L vs (10.9±3.3)×10 9/L, t=－2.19] and vitamin D level [(42.8±12.1) vs (45.9±16.6) nmol/L, t=－1.76]. The data on vitamin D were incomplete and after excluding the factor, the logistic regression showed that female was a risk factor ( OR=18.388 95% CI: 1.317-256.743); while higher birth weight was a protective factor ( OR=0.996, 95% CI: 0.993-0.999). In order to exclude the influence of monozygotic twins on gender, 11 sets of monozygotic twins and one set with unknown zygosity were excluded from multivariate analysis. The results suggested that female was a risk factor ( OR=18.527, 95% CI: 1.209-283.820), while higher birth weight was a protective factor ( OR=0.996, 95% CI: 0.992-1.000). Conclusion:Female and birth weight are the factors influencing TH at 11-20 d after birth in one preterm twin.

Neonatal pseudo-Bartter syndrome caused by maternal hyperemesis gravidarum: analysis of a twins / 中华围产医学杂志

Objective:To summarize the clinical manifestations, treatment and outcome of neonatal pseudo-Bartter syndrome caused by maternal hyperemesis gravidarum.Methods:This retrospective study collected the clinical data of a set of premature twins with pseudo-Bartter syndrome who were admitted to Hebei Children's Hospital in September 2022. Clinical features of the cases were summarized with descriptive analysis.Results:The twins born with a gestational age of 30 +3 weeks required tracheal intubation and mechanical ventilation due to premature birth and respiratory distress. They were transferred to our hospital 2 h after birth. The mother suffered from hyperemesis gravidarum and even had severe vomiting complicated by hypokalemia 3 d before delivery. The blood gas analysis of the twins at 2 h after birth showed severe metabolic alkalosis, hyponatremia, hypokalemia, hypochloremia and hyperlactatemia. Hyperglycemia appeared at 6 h after birth, and scleredema neonatorum at 24 h after birth. No significant abnormalities were found in the tandem mass spectrometer analysis of blood or urine samples. Whole-exome sequencing showed no abnormalities in the genes related to the phenotype. The twins were diagnosed with neonatal pseudo-Bartter syndrome. After symptomatic and supportive treatment, metabolic alkalosis and electrolyte disorders in the twins were completely resolved 4 d after birth. They were cured and discharged 51 d after birth without recurrence. Follow-up revealed no abnormalities in the physical or neurological development of the twins at 11 months after birth. Conclusions:Maternal hyperemesis gravidarum can lead to neonatal pseudo-Bartter syndrome, characterized by severe metabolic disorders as well as respiratory and circulatory dysfunction at the early stage after birth. Timely diagnosis and treatment are conducive to good prognosis in the affected neonates.

Nemaline myopathy type 8 caused by KLHL40 gene in a twin: case report and literature review / 中华围产医学杂志

Objective:To investigate the clinical, genetic, and pathological features of nemaline myopathy type 8 (NEM8) caused by KLHL40 gene variation. Methods:The clinical data, gene sequencing results, and musculoskeletal pathophysiology of two cases (a pair of twins) with NEM8 admitted to our hospital in July 2022 were collected. CNKI, VIP, Wanfang, Yiigle, PubMed, Embase, and Web of Science Database were searched with the English and Chinese terms "nemaline myopathy type 8", "nemaline body myopathy type 8", and " KLHL40" from January 2007 to February 2023. The clinical, genetic, and musculoskeletal characteristics of the NEM8 cases were summarized using the descriptive statistical analysis method. Results:(1) Case report: The mother (G2P2) of the twins (Ⅳ-2 and Ⅳ-3) was conceived by IVF-embryo transfer and delivered at 37 +1 gestational weeks. The two cases were dizygotic twins whose maternal grandmother had lip and palate cleft. The first baby (Ⅳ-1) of the woman exhibited absent left pinna, contracture at the end of both fingers, talipes equinovarus in both feet and died of respiratory failure two hours after birth. Fetal edema and fetal movement delay in the twins and varus right foot in one twin were found during pregnancy. Both cases developed intrapartum asphyxia with the clinical manifestations of generalized muscle weakness, respiratory failure, dysphagia, multiple joint contractures, and fractures. The families withdrew the treatment and the twins died after maintaining life with ventilators for 53 days after birth. Whole exome sequencing of the pedigree found c.1779G>T (p.W593C) homozygous variants of the KLHL40 gene in the twins and c.1779G>T (p.W593C) heterozygous variants of the KLHL40 gene in the parents, both were de novo. Musculoskeletal pathophysiology indicated that muscle fibers are thin and round with a fetal shape and absent rod. (2) Literature review: Among the 29 cases of NEM8, including two current cases and 27 cases retrieved from 15 papers, eight cases terminated the pregnancies, and 21 were live births; seven cases (24.1%) with positive family history; 19 cases (65.5%) were found with abnormalities during pregnancy, including abnormal fetal movements, polyhydramnios, joint contracture, and fetal edema. Of the 21 live births, 20 cases had intrapartum asphyxia, 21 had postnatal respiratory failure, 20 had generalized muscle weakness, and 19 had dysphagia. Among the 29 cases, 17 cases (58.6%) were homozygous variants of the KLHL40 gene, and 12 cases (41.4%) were compound heterozygous variants. The detection rate of c.1516A>C(p.Thr506Pro) was the highest [72.4% (21/29)], followed by c.602G>A(p.Trp201*) [17.2% (5/29)]. Out of the 15 cases who underwent musculoskeletal pathological examination, all had abnormal muscle fiber size and morphology; 10 cases had rods. Conclusions:NEM8 should be considered for those with abnormal fetal movements, polyhydramnios, joint malformation, fetal edema during the fetal period and failure to establish respiration at birth as well as postnatal generalized muscle weakness, respiratory failure, dysphagia, multiple joint contractures, and fracture. Moreover, genetic detection should be performed as soon as possible. NEM8 can be diagnosed in ones with KLHL40 gene homozygous or compound heterozygous variants and musculoskeletal pathological results of abnormal size and shape of muscle fibers, regardless of the presence of rods.

The correlation of bone metabolism biomarkers in newborn twins and their pregnant mothers / 中国新生儿科杂志

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.

A retrospective analysis of complications during hospitalization in twins with birth weight discordance / 中国新生儿科杂志

Objective:To study the incidences of complications in twins with birth weight discordance (BWD) during hospitalization.Methods:From January 2011 to December 2020, twins born in the Department of Obstetrics and hospitalized in NICU of our hospital were retrospectively studied. Twins with BWD>15% were assigned into BWDT group and BWD≤15% into twins with birth weight concordant (BWCT) group. Complications during hospitalization were compared between the two groups.Results:A total of 1 546 pairs of twins were enrolled, including 486 (31.4%) in BWDT group and 1 060 (68.6%) in BWCT group. Compared with BWCT group, BWDT group had significantly higher incidences of pulmonary surfactant (PS) utilization (47.7% vs. 42.2%), continuous positive airway pressure ≥ 24 h (40.5% vs. 35.0%), high-flow nasal cannula ≥ 24 h (22.8% vs. 16.3%), neonatal respiratory distress syndrome (52.9% vs. 47.1%), bronchopulmonary dysplasia (BPD) (15.6% vs. 11.1%), persistent pulmonary hypertension of the newborn (3.1% vs. 1.4%) and anemia (79.6% vs. 70.1%) (all P<0.05). After adjusting for confounding factors, the risks of pulmonary hemorrhage ( OR=2.036, 95% CI 1.119-3.703, P=0.020) and BPD ( OR=2.960, 95% CI 1.656-5.219, P=0.010) in BWDT group were higher than BWCT group. Conclusions:BWD twins has higher incidences of complications during hospitalization than BWC twins.

Application research of fetal HQ in the systolic function of 24 segments in dichorionic diamniotic twin pregnancy / 中华超声影像学杂志

Objective:To evaluate the systolic function of 24 segments in dichorionic diamniotic (DCDA) twin pregnancy by fetal heart qualification (fetal HQ) analysis, and to compare the difference with singleton pregnancies.Methods:Thirty-one cases of DCDA twin pregnancy (observation group) and 100 cases of singleton pregnancy (control group) matched in gestational age were enrolled. They underwent perinatal health care in the Third Affiliated Hospital of Zhengzhou University from February 2022 to February 2023.Fetal HQ was applied to track endocardial motion trajectories and automatically calculate the global strain (GS), fractional area change (FAC) and fractional shortening (FS) of 24 segments of left and right ventricles in order to compare the difference between DCDA fetuses and singleton fetuses. One case of twins with growth discordance were selected to demonstrate the utility of this technique.Results:①There were no statistically significant differences in GS, FAC and 24-segments FS of left and right ventricles between the two fetuses in the observation group (all P>0.05). ②The LV-FS of segments 1-10 were higher in the observation group than the control group, and the differences were statistically significant (all P<0.05). However, there were no statistically significant differences in GS and FAC of left and right ventricles, LV-FS of segments 11-24 and RV-FS of segments 1-24 between the observation group and the control group (all P>0.05). The intraclass correlation coefficient(ICC) was greater than 0.75, indicating good repeatability. ③Two fetuses with discordant growth in dichorionic diamniotic twins had abnormal FS in some segments of the left and right ventricles. Conclusions:Fetal HQ technology could easily and reliably evaluate fetal heart function in DCDA pregnancy with good repeatability. The changes of fetal cardiac function in twin pregnancy did not always follow the same pattern as in singleton pregnancy. The related data of singleton pregnancy should not be blindly used in the clinical management and scientific research of twin pregnancy.