Relationship between prenatal ultrasound signs and genetic abnormalities for fetal malformations of cortical development.

To explore the relationship between ultrasound signs of suspected fetal malformation of cortical development (MCD) and genetic MCD.The retrospective study involved fetuses with one of the following 10 neurosonography (NSG) signs: (A) abnormal development of the Sylvian fissure; (B) delayed achievement of cortical milestones; (C) premature or aberrant appearance of sulcation; (D) irregular border of the ventricular wall or irregular shape of the ventricle; (E) abnormal shape or orientation of the sulci; (F) hemispheric asymmetry; (G) non-continuous cerebral cortex; (H) intraparenchymal echogenic nodules; (I) persistent ganglionic eminence (GE) or GE cavitation; (J) abnormal cortical lamination.95 fetuses were included in the study.

Factor structure and reliability of the symptom measurement of post-stroke depression in the rehabilitation stage.

Background: The incidence of Post Stroke Depression (PSD) in the Rehabilitation Stage is high, which can bring serious physical and psychological disorders to patients. However, there is still a lack of targeted tools for screening PSD in the rehabilitation stage. Therefore, the aim of this study was to evaluate the factor structure and reliability of a measurement instrument to screen for PSD in the rehabilitation stage.

Developmental Process and Symmetry of Fetal Sulci in the Mesial Area Assessed by Ultrasound: A Cohort Study in Chinese Population.

Objective: We aimed to investigate the progression of cortical development in Chinese population and to determine the rate of isolated asymmetric cortical development. We also explored the outcomes of these fetuses and determined whether cortical asymmetry represents normal individual physiological variation.

Methods: Our observational cohort study included 456 healthy singleton pregnant women who visited Peking University First Hospital between September 2020 and December 2021.

Case report: An asymptomatic mother with an inborn error of cobalamin metabolism (cblC) detected through high homocysteine levels during prenatal diagnosis.

Background: The most common disorder of the intracellular cobalamin metabolism pathway is the combined methylmalonic acidemia and homocysteinemia, cblC type (cblC). There is a variation in its clinical spectrum ranging from severe neonatal-onset forms that are highly fatal to later-onset forms which are milder. In this study, the first case of an asymptomatic Chinese woman with a defect in congenital cobalamin (cblC type) metabolism at prenatal diagnosis due to elevated homocysteine level is identified.

Enhancing early autism prediction based on electronic records using clinical narratives.

Recent work has shown that predictive models can be applied to structured electronic health record (EHR) data to stratify autism likelihood from an early age (<1 year). Integrating clinical narratives (or notes) with structured data has been shown to improve prediction performance in other clinical applications, but the added predictive value of this information in early autism prediction has not yet been explored. In this study, we aimed to enhance the performance of early autism prediction by using both structured EHR data and clinical narratives.

Transvaginal ultrasound parameters to evaluate cervical favorability and predict the outcome of induction of labor.

Objective: To compare the values of transvaginal ultrasound (TVU) and Bishop score (BS) for predicting outcomes of induction of labor (IOL).

Methods: The BS and TVU were assessed before IOL. TVU parameters included cervical length (CL) and E-Cervix comprising the cervical hard ratio (HR) and the mean strain level of internal os (IOS).

Predictive Value of Early Autism Detection Models Based on Electronic Health Record Data Collected Before Age 1 Year.

Importance: Autism detection early in childhood is critical to ensure that autistic children and their families have access to early behavioral support. Early correlates of autism documented in electronic health records (EHRs) during routine care could allow passive, predictive model-based monitoring to improve the accuracy of early detection.

Objective: To quantify the predictive value of early autism detection models based on EHR data collected before age 1 year.

Corrigendum: Development and initial validation of a clinical measure to assess symptoms of post-stroke depression in stroke patients at the rehabilitation stage.

[This corrects the article DOI: 10.3389/fpsyg.2022.

Supercharging Imbalanced Data Learning With Energy-based Contrastive Representation Transfer.

Dealing with severe class imbalance poses a major challenge for many real-world applications, especially when the accurate classification and generalization of minority classes are of primary interest. In computer vision and NLP, learning from datasets with long-tail behavior is a recurring theme, especially for naturally occurring labels. Existing solutions mostly appeal to sampling or weighting adjustments to alleviate the extreme imbalance, or impose inductive bias to prioritize generalizable associations.

Development and initial validation of a clinical measure to assess symptoms of post-stroke depression in stroke patients at the rehabilitation stage.

Background: The high incidence of post-stroke depression (PSD) during rehabilitation exerts a negative effect on the treatment and functional recovery of patients with stroke and increases the risk of mortality. It is necessary to screen PSD in the rehabilitation stage and thus provide effective intervention strategies. However, existing measurements used to assess PSD in the rehabilitation stage in patients with stroke lack specificity.

Stress and coping styles among nursing students during the initial period of the clinical practicum: A cross-section study.

Objectives: This study aimed to explore the level of stress, types of stressors, type of coping styles, and factors influencing stress levels and coping styles among nursing students during the initial period of the clinical practicum.

Methods: A cross-sectional survey design was used. In September 2017, participants were recruited from a tertiary hospital in Zhejiang Province, China, using a convenience sampling method.

Comparing amniotic fluid mass spectrometry assays and amniocyte gene analyses for the prenatal diagnosis of methylmalonic aciduria.

Background: Methylmalonic aciduria (MMA), a rare inherited disorder, is the most common organic aciduria in China, and prenatal diagnosis has contributed to its prevention. However, the prenatal diagnosis of MMA using cultured amniocytes or chorionic villi to detect gene mutations is exclusively applicable to families with a definite genetic diagnosis. To evaluate the reliability of mass spectrometry assays for the prenatal diagnosis of MMA, we conducted a retrospective study of our 10 years' experience.

Simpson-Golabi-Behmel syndrome in one of the Dichorionic-diamniotic twin: a case report and literature review.

Background: Simpson-Golabi-Behmel syndrome (SGBS) is a rare X-linked overgrowth syndrome. The main clinical manifestations are overgrowth and multiple malformations.

Case Presentation: A 38-year-old Chinese woman was pregnant with dichorionic-diamniotic (DCDA) twins after in-vitro fertilization.

Neurodevelopmental outcomes in mild and moderate isolated ventriculomegaly originating .

Objective: To determine the differences in outcomes between mild and moderate isolated ventriculomegaly (IVM).

Methods: We conducted a prospective cohort study on 94 fetuses with IVM and evaluated the neurodevelopmental outcomes at 12 months of age using the ASQ-3 and BSID-I neurodevelopmental assessment tools. Progression of VM was defined as an increase in the width of the ventricular by at least 3 mm during sequential ultrasound monitoring.

Correlation between mild fetal ventriculomegaly, chromosomal abnormalities, and copy number variations.

Background: Lateral ventriculomegaly is the most common abnormality of the fetal nervous system. This study investigated the incidence of chromosomal abnormalities and copy number variations (CNVs) in fetuses with mild ventriculomegaly (MV) based on various ultrasonic manifestations, identifying their corresponding features via ultrasound examination.

Methods: A retrospective analysis was performed on ultrasound and neurosonogram (NSG) manifestations and genetic profiles of 334 cases with MV and invasive prenatal diagnosis.

Significance of the ability to differentiate emotional prosodies for the early diagnosis and prognostic prediction of mild hypoxic-ischemic encephalopathy in neonates.

Background: Perinatal brain injury affects around 300,000 neonates in China each year, early diagnosis and active intervention are also crucial for timely treatment and better prognoses. As hearing is the earliest as well as the most sensitive sense to develop in neonates, we propose that the ability to differentiate among different emotional prosodies may differ between neonates with and without brain injuries.

Methods: We enrolled full-term neonates admitted to the neonatology department of Peking University First Hospital from January 2016 to December 2016, conducted functional near-infrared spectroscopy (fNIRS) monitoring within 24 hr of admission, and analyzed changes in oxyhemoglobin (ΔHbO ) and deoxyhemoglobin (ΔHb) to study the ability of neonates to differentiate among emotional prosodies.

Identification of Novel Mutations in Chinese Patients with Metachromatic Leukodystrophy.

Objective: Metachromatic leukodystrophy (MLD) is an inherited disease caused by a deficiency of the enzyme arylsulfatase A (ARSA) that leads to severe physiologic and developmental problems. Our study is aimed at elucidating the clinical and genetic characteristics of Chinese MLD patients.

Methods: Clinical data of 21 MLD patients was collected.

[Predictive value of cervical length by transvaginal sonography for preterm pregnancy during mid- and late-trimester of pregnancy].

Objective: To study the value of cervical length (CL) by transvaginal sonography in the mid-trimester and late-trimester for the prediction of preterm delivery.

Methods: The CL was measured by transvaginal sonography for 5277 pregnant women between 22 - 24 weeks and 28 - 32 weeks gestation, who were prenatal cared and delivered at the First Hospital of Peking University from June 2008 to November 2009. The pregnancy outcomes were followed, and the relationship between CL and preterm delivery and preterm premature rupture of membrane was studied.

[Expression and function of cyclooxygenase-2 in endometrial carcinoma].

Objective: To evaluate the cyclooxygenase-2(COX-2) expression at mRNA and protein levels, as well as its clinical significance, and to study the correlation of COX-2 with angiogenesis, apoptosis and estrogen or progestron receptors.

Methods: Forty-one samples of normal endometrium tissues and 52 ones of endometrial carcinomas(EC) were collected, together with their corresponding clinical information. RT-PCR was adopted to determine the expression of COX-2 mRNA.