[Prenatal diagnosis of a case with Congenital myasthenic syndrome due to compound heterozygous variants of SCN4A gene].

OBJECTIVE: To explore the clinical and genetic characteristics of a fetus diagnosed with Congenital myasthenic syndrome type 16 (CMS16). METHODS: A couple who had visited Tianjin Medical University General Hospital in February 2018 due to "adverse outcome of two pregnancies" was selected as the study subject. Clinical data was gathered. Peripheral blood and amniotic fluid samples were collected and subjected to whole exome sequencing (WES). Candidate variant was verified by Sanger sequencing. Low-depth whole-genome sequencing was carried out to detect copy number variation (CNV) in the fetus. RESULTS: The couple's first pregnancy had resulted in a miscarriage at 27+5 weeks, when ultrasound had revealed pleural effusion and polyhydramnios in the fetus. Their second pregnancy was terminated at 30+5 weeks due to fetal hand malformations, polyhydramnios and pleural fluid. Both couple had denied family history of genetic conditions. For their third pregnancy, no CNV abnormality was detected, whilst a compound heterozygous variants, including a maternally derived c.3172C>T (p.R1058W) and paternal c.1431delG (p.K477fs*89) in the SCN4A gene were detected. Based on the guidelines from the American College of Medical Genetics and Genomics, the c.3172C>T (p.R1058W) was predicted as a likely pathogenic variant (PM1+PM2_supporting+PP3+PP4), whilst the c.1431delG (p.K477fs*89) was predicted as a pathogenic variant (PVS1+PM2_supporting+PP4). CONCLUSION: The c.3172C>T (p.R1058W) and c.1431delG (p.K477fs*89) compound heterozygous variants of the SCN4A gene probably underlay the CMS16 in the third fetus.

Construction of 2-2 Type Cement-Based Piezoelectric Composites' Mechanic-Electric Relationship Based on Strain Rate Dependence.

It has been found that the mechanic-electric response of cement-based piezoelectric composites under impact loading is nonlinear. Herein, we prepared a 2-2 cement-based piezoelectric composite material using cutting, pouring, and re-cutting. Then, we obtained the stress-strain and stress-electric displacement curves for this piezoelectric composite under impact loading using a modified split Hopkinson pressure bar (SHPB) experimental apparatus and an additional electrical output measurement system. Based on the micromechanics of the composite materials, we assumed that damage occurred only in the cement paste. The mechanical response relationship of the piezoelectric composite was calculated as the product of the viscoelastic constitutive relationship of the cement paste and a constant, where the constant was determined based on the reinforcement properties of the mechanical response of the piezoelectric composite. Using a modified nonlinear viscoelastic Zhu-Wang-Tang (ZWT) model, we characterized the stress-strain curves of the piezoelectric composite with different strain rates. The dynamic sensitivity and stress threshold of the linear response of the samples were calibrated and fitted. Thus, a mechanic-electric response equation was established for the 2-2 type cement-based piezoelectric composite considering the strain rate effects.

Case Report: Recurrent Malignant Struma Ovarii With Hyperthyroidism and Metastases, A Rare Case Report and Review of the Literature.

Background: SO (Struma ovarii) is a rare form of ovarian teratoma which originates from ovarian dermoid cysts. Due to the rarity of this disease, relevant studies might not be sufficiently documented, especially cases with hyperthyroidism and multiple metastases. Case Presentation: A 40-year-old female patient was admitted to our hospital due to management of early pregnancy along with a recurrent abdominal and pelvic mass. Contrast-enhanced CT images showed an irregular mass (10.7 × 8.6 × 12.8 cm) located in the right side from the hypogastrium to the pelvic cavity and another mass (3.8 × 3.7 cm) in the liver. Laboratory examination showed that CA125 (Carbohydrate Antigen-125) was 118.10 U/mL, Tg (thyroglobulin) was >300 ng/ml, FT4 (free thyroxine) was 22.11 pmol/L, and TSH (thyroid-stimulating hormone) was <0.004 mIU/L. She subsequently underwent liver mass dissection, omentectomy, tumor dissection, peritoneal nodule resection, as well as rectal anterior wall nodule resection. The patient was diagnosed with malignant SO (papillary type) along with multiple metastases. Also, we conducted a literature review based on 290 SO cases from 257 articles. Conclusion: This study showed that malignant SO might be prone to relapse and metastasize (a metastatic rate of 52.94%) and therefore aggressive management might need to be recommended for malignant SO. Also, laparotomy might need to be recommended for large tumors that cannot be resected by laparoscopic surgery since these tumors might be prone to rupture and thus produce peritoneal implants. Furthermore, Graves' disease might need to be considered in the differential diagnosis.

Fetal aneuploidy screening by non-invasive prenatal testing of maternal plasma DNA sequencing with "false negative" result due to confined placental mosaicism: A case report.

RATIONALE: Non-invasive prenatal testing (NIPT) is an accurate screening method with high specificity and sensitivity and a low false-positive rate of trisomy 21, 18, and 13. However, false-negative NIPT results could also limit the clinical application of NIPT. PATIENT CONCERNS: A 34-year-old primigravida woman who underwent NIPT at 16 + 3 weeks' gestation was identified as being at high risk for fetal trisomy X (47, XXX). Fetal cardiac defect and hand posture were observed during prenatal ultrasound examination at the 23rd week of gestation. DIAGNOSES: Amniocentesis conducted at the 24th week of gestation. Fetal karyotyping and FISH identified karyotype 48, XXX, + 18, which indicated that the NIPT failed to detect trisomy 18 in this case. INTERVENTIONS: The couple decided to terminate pregnancy at the 26th week of gestation and was willing to undergo further examinations. OUTCOMES: Discordant results between fetus with trisomy 18 and placenta with mosaic T18 were further identified with massive parallel sequencing, which might be due to that the fetal cell-free DNA in maternal plasma for NIPT that was assessed principally originated from the trophoblast cells. LESSONS: The presence of trisomy 18 mosaicism in the placenta might be the reason for the false-negative NIPT result in this case of double aneuploidy with 48, XXX, + 18, karyotype. Although the NIPT is a valuable screening method that has evident advantages in prenatal aneuploidy screening for certain chromosomal abnormalities compared to other methods, it is not a "diagnostic test" yet.

Towards whole body fatigue assessment of human movement: a fatigue-tracking system based on combined sEMG and accelerometer signals.

This paper proposes a method to assess the overall fatigue of human body movement. First of all, according to previous research regarding localized muscular fatigue, a linear relation is assumed between the mean frequency and the muscular working time when the muscle is experiencing fatigue. This assumption is verified with a rigorous statistical analysis. Based on this proven linearity, localized muscular fatigue is simplified as a linear model. Furthermore, localized muscular fatigue is considered a dynamic process and, hence, the localized fatigue levels are tracked by updating the parameters with the most current surface electromyogram (sEMG) measurements. Finally, an overall fatigue level is computed by fusing localized muscular fatigue levels. The developed fatigue-tracking system is evaluated with two fatigue experiments (in which 10 male subjects and seven female subjects participated), including holding self-weight (dip start position training) and lifting weight with one arm (arm curl training).

Balance fatigue design of cast steel nodes in tubular steel structures.

Cast steel nodes are being increasingly popular in steel structure joint application as their advanced mechanical performances and flexible forms. This kind of joints improves the structural antifatigue capability observably and is expected to be widely used in the structures with fatigue loadings. Cast steel node joint consists of two parts: casting itself and the welds between the node and the steel member. The fatigue resistances of these two parts are very different; the experiment results showed very clearly that the fatigue behavior was governed by the welds in all tested configurations. This paper focuses on the balance fatigue design of these two parts in a cast steel node joint using fracture mechanics and FEM. The defects in castings are simulated by cracks conservatively. The final crack size is decided by the minimum of 90% of the wall thickness and the value deduced by fracture toughness. The allowable initial crack size could be obtained through the integral of Paris equation when the crack propagation life is considered equal to the weld fatigue life; therefore, the two parts in a cast steel node joint will have a balance fatigue life.

Functional segregation of the human cingulate cortex is confirmed by functional connectivity based neuroanatomical parcellation.

The four-region model with 7 specified subregions represents a theoretical construct of functionally segregated divisions of the cingulate cortex based on integrated neurobiological assessments. Under this framework, we aimed to investigate the functional specialization of the human cingulate cortex by analyzing the resting-state functional connectivity (FC) of each subregion from a network perspective. In 20 healthy subjects we systematically investigated the FC patterns of the bilateral subgenual (sACC) and pregenual (pACC) anterior cingulate cortices, anterior (aMCC) and posterior (pMCC) midcingulate cortices, dorsal (dPCC) and ventral (vPCC) posterior cingulate cortices and retrosplenial cortices (RSC). We found that each cingulate subregion was specifically integrated in the predescribed functional networks and showed anti-correlated resting-state fluctuations. The sACC and pACC were involved in an affective network and anti-correlated with the sensorimotor and cognitive networks, while the pACC also correlated with the default-mode network and anti-correlated with the visual network. In the midcingulate cortex, however, the aMCC was correlated with the cognitive and sensorimotor networks and anti-correlated with the visual, affective and default-mode networks, whereas the pMCC only correlated with the sensorimotor network and anti-correlated with the cognitive and visual networks. The dPCC and vPCC involved in the default-mode network and anti-correlated with the sensorimotor, cognitive and visual networks, in contrast, the RSC was mainly correlated with the PCC and thalamus. Based on a strong hypothesis driven approach of anatomical partitions of the cingulate cortex, we could confirm their segregation in terms of functional neuroanatomy, as suggested earlier by task studies or exploratory multi-seed investigations.