Identification and characterization of two novel KCNH2 mutations contributing to long QT syndrome.

We identified two different inherited mutations in KCNH2 gene, or human ether-a-go-go related gene (hERG), which are linked to Long QT Syndrome. The first mutation was in a 1-day-old infant, whereas the second was in a 14-year-old girl. The two KCNH2 mutations were transiently transfected into either human embryonic kidney (HEK) cells or human induced pluripotent stem-cell derived cardiomyocytes.

ELUCIDATING THE ROLE OF THE HIS-PURKINJE SYSTEM DURING LONG QT MEDIATED ARRHYTHMIAS.

Mutation in the hERG gene leading to partial or complete blockade of the rapid delayed rectifier current causes Long QT Type 2 (LQT2) phenotype, the second most common form of Long QT Syndrome. However, the exact involvement of the His-Purkinje System (HPS) remains elusive. We utilized a finite element model of the rabbit ventricles integrated with a HPS to elucidate the role of HPS during LQT2-mediated arrhythmia.

A comparison of intervertebral ligament properties utilized in a thoracic spine functional unit through kinematic evaluation.

Ligament properties in the literature are variable, yet scarce, but needed to calibrate computational models for spine clinical research applications. A comparison of ligament stiffness properties and their effect on the kinematic behavior of a thoracic functional spinal unit (FSU) is examined in this paper. Six unique ligament property sets were utilized within a volumetric T7-T8 finite element (FE) model developed using computer-aided design (CAD) spinal geometry.

Wearable Sensor Gait Analysis of Fall Detection using Attention Network.

The statistical data from the National Council on Aging indicates that a senior adult dies in the US from a fall every 19 minutes. The care of elderly people can be improved by enabling the detection of falling events, especially if it triggers the pneumatic actuation of a protective airbag. This work focuses on detecting impending fall risk of senior subjects within the geriatric population, towards a planned approach to mitigating fall injuries through pneumatic airbag deployment.

Diagnostic accuracy of Kleihauer-Betke (Kb) testing to predict fetal outcomes associated with fetomaternal hemorrhage: a retrospective cohort study.

Objective: To evaluate the diagnostic and screening utility of Kleihauer-Betke (KB) testing as a triage tool in predicting adverse fetal outcomes associated with fetomaternal hemorrhage (FMH).

Study Design: Single center retrospective cohort study evaluated a primary composite outcome of fetal complications associated with FMH between KB-negative and KB-positive test groups. Screening tests for sensitivity, specificity, positive predictive value and negative predictive value were determined.

PlGF (Placental Growth Factor) Testing in Clinical Practice: Evidence From a Canadian Tertiary Maternity Referral Center.

[Figure: see text].

Second Trimester Placental Growth Factor Levels and Placental Histopathology in Low-Risk Nulliparous Pregnancies.

Objective: Placental growth factor (PlGF) levels are lower at delivery in pregnancies with preeclampsia or fetuses small for gestational age (SGA). These obstetrical complications are typically mediated by placental dysfunction, most commonly related to the specific placental phenotype termed placental maternal vascular malperfusion (MVM). The objective of this study was to determine the relationship between PlGF levels in the second trimester and the development of placental diseases that underlie adverse perinatal outcomes.

Robotically Steered Needles: A Survey of Neurosurgical Applications and Technical Innovations.

This paper surveys both the clinical applications and main technical innovations related to steered needles, with an emphasis on neurosurgery. Technical innovations generally center on curvilinear robots that can adopt a complex path that circumvents critical structures and eloquent brain tissue. These advances include several needle-steering approaches, which consist of tip-based, lengthwise, base motion-driven, and tissue-centered steering strategies.

Deformable multisurface segmentation of the spine for orthopedic surgery planning and simulation.

We describe a shape-aware multisurface simplex deformable model for the segmentation of healthy as well as pathological lumbar spine in medical image data. This model provides an accurate and robust segmentation scheme for the identification of intervertebral disc pathologies to enable the minimally supervised planning and patient-specific simulation of spine surgery, in a manner that combines multisurface and shape statistics-based variants of the deformable simplex model. Statistical shape variation within the dataset has been captured by application of principal component analysis and incorporated during the segmentation process to refine results.

Medial axis segmentation of cranial nerves using shape statistics-aware discrete deformable models.

Purpose: We propose a segmentation methodology for brainstem cranial nerves using statistical shape model (SSM)-based deformable 3D contours from T MR images.

Methods: We create shape models for ten pairs of cranial nerves. High-resolution T MR images are segmented for nerve centerline using a 1-Simplex discrete deformable 3D contour model.

TOWARDS MUSCULOSKELETAL SIMULATION-AWARE FALL INJURY MITIGATION: TRANSFER LEARNING WITH DEEP CNN FOR FALL DETECTION.

This paper presents early work on a fall detection method using transfer learning method, in conjunction with a long-term effort to combine efficient machine learning and prior personalized musculoskeletal modeling to deploy fall injury mitigation in geriatric subjects. Inspired by the tremendous progress in image-based object recognition with deep convolutional neural networks (DCNNs), we opt for a pre-trained kinematics-based machine learning approach through existing large-scale annotated accelerometry datasets. The accelerometry datasets are converted to images using time-frequency analysis, based on scalograms, by computing the continuous wavelet transform filter bank.

Parental ethnicity and placental maternal vascular malperfusion pathology in healthy nulliparous women.

Introduction: Rates of some placental-associated pregnancy complications vary by ethnicity, though the strength of association with underlying placental pathology is presently unknown. Our objective was to determine whether an association between ethnicity and placental pathology occurs in low-risk pregnancies.

Methods: 829 low-risk nulliparous pregnant women were prospectively studied.

Molecular actions of heparin and their implications in preventing pre-eclampsia.

Pre-eclampsia, a hypertensive disorder of pregnancy, continues to be a significant cause of global maternal morbidity. Low-dose aspirin remains the only standard-of-care prophylactic therapy for preventing pre-eclampsia, but is limited in efficacy. Heparin and its derivatives may further enhance the efficacy of aspirin therapy to prevent pre-eclampsia, but the mechanisms mediating this augmentative effect are not known.

Mechanisms and Clinical Significance of Endothelial Dysfunction in High-Risk Pregnancies.

The maternal cardiovascular system undergoes critical anatomic and functional adaptations to achieve a successful pregnancy outcome which, if disrupted, can result in complications that significantly affect maternal and fetal health. Complications that involve the maternal cardiovascular system are among the most common disorders of pregnancy, including gestational hypertension, preeclampsia, gestational diabetes, and impaired fetal growth. As a central feature, maternal endothelial dysfunction is hypothesized to play a predominant role in mediating the pathogenesis of these high-risk pregnancies, and as such, might proceed and precipitate the clinical presentation of these pregnancy disorders.

Spatiotemporal distribution of small ubiquitin-like modifiers during human placental development and in response to oxidative and inflammatory stress.

Key Points: The post-translational modification of target proteins by SUMOylation occurs in response to stressful stimuli in a variety of organ systems. Small ubiquitin-like modifier (SUMO) isoforms 1-4 have recently been identified in the human placenta, and are upregulated in the major obstetrical complication of pre-eclampsia. This is the first study to characterize the spatiotemporal distribution of SUMO isoforms and their targets during placental development across gestation and in response to stress induced by pre-eclampsia and chorioamnionitis.

Controlling the error on target motion through real-time mesh adaptation: Applications to deep brain stimulation.

An error-controlled mesh refinement procedure for needle insertion simulations is presented. As an example, the procedure is applied for simulations of electrode implantation for deep brain stimulation. We take into account the brain shift phenomena occurring when a craniotomy is performed.

A placenta clinic approach to the diagnosis and management of fetal growth restriction.

Effective detection and management of fetal growth restriction is relevant to all obstetric care providers. Models of best practice to care for these patients and their families continue to evolve. Since much of the disease burden in fetal growth restriction originates in the placenta, the concept of a multidisciplinary placenta clinic program, managed primarily within a maternal-fetal medicine division, has gained popularity.

Screening for fetal growth restriction and placental insufficiency.

Fetal growth restriction (FGR) continues to be a leading cause of preventable stillbirth and poor neurodevelopmental outcomes in offspring, and furthermore is strongly associated with the obstetrical complications of iatrogenic preterm birth and pre-eclampsia. The terms small for gestational age (SGA) and FGR have, for too long, been considered equivalent and therefore used interchangeably. However, the delivery of improved clinical outcomes requires that clinicians effectively distinguish fetuses that are pathologically growth-restricted from those that are constitutively small.

Maternal Vascular Malperfusion and Adverse Perinatal Outcomes in Low-Risk Nulliparous Women.

Objective: To evaluate the disease burden of placental maternal vascular malperfusion pathology in a low-risk nulliparous population and test the hypothesis that a multiparameter model in the second trimester can predict maternal vascular malperfusion with high precision.

Methods: A single-center, prospective cohort study was conducted in healthy nulliparous women. Maternal vascular malperfusion disease burden was estimated by incidence, relative risk (RR), and population-attributable risk percent.

SUMO-4: A novel functional candidate in the human placental protein SUMOylation machinery.

Background: Small ubiquitin-like modifiers (SUMOs) conjugate to proteins post-translationally, thereby affecting target localization, activity and stability. Functional SUMO family members identified in the human placenta include SUMO-1 to SUMO-3, which are elevated in pre-eclampsia. Whether the fourth isoform, SUMO-4, plays a role in placental development and function remains unknown.