Compound Heterozygous Variants of Associated With Congenital Muscular Dystrophy and Progressive Myoclonus Epilepsy: A Case Report.

Objectives: The gene is a Golgi vesicle transport gene that encodes for the Golgi SNAP receptor complex member 2 protein. This protein mediates transport between the medial and trans-Golgi compartments. The homozygous missense variant in the gene, c.

Exploring histopathological and serum biomarkers in lung adenocarcinoma: Clinical applications and translational opportunities (Review).

Lung cancer represents one of the most common neoplasms and the main cause of cancer‑associated death worldwide. Its relationship with different risk factors such as tobacco, which is its main etiological factor, has been clearly established and despite the numerous advances achieved in the diagnosis, treatment and follow‑up of these patients, the life expectancy of these patients is notably limited. Furthermore, its treatment is not exempt from comorbidities and frequently it neither provides optimal control of the disease nor improve the quality of life of these patients.

Coats plus in prematurity.

Background: Coats plus syndrome or cerebroretinal microangiopathy with calcifications and cysts (CMCC) is an exceedingly rare autosomal recessive disorder that predominantly affects the microvasculature in the retina, brain, bones, and gastrointestinal system. Unlike Coats disease, CMCC is bilateral and affects multiple organ systems.

Materials And Methods: Case report.

Parkinson's Symptoms and Caregiver Affiliate Stigma: A Multinational Study.

Background And Objective: Research has documented the stigma that individuals with degenerative neurological diseases experience, but caregivers also experience stigma by association (i.e., affiliate stigma).

Mining Drug-Target Associations in Cancer: Analysis of Gene Expression and Drug Activity Correlations.

Cancer is a complex disease affecting millions of people worldwide, with over a hundred clinically approved drugs available. In order to improve therapy, treatment, and response, it is essential to draw better maps of the targets of cancer drugs and possible side interactors. This study presents a large-scale screening method to find associations of cancer drugs with human genes.

Parkinson's family needs and caregiver mental health: A cross-cultural comparison between Mexico and the United States.

Background/objective: Given the growing population of individuals with Parkinson's disease (PD) worldwide and the growing need for family members to take on a caregiving role, it is critical that cross-cultural differences be examined in order to better meet the needs of PD caregivers. The purpose of this study was to examine the connections between the unmet needs and mental health of PD caregivers differentially in Mexico and the United States.

Methods: In Parkinson's clinics at public, academic medical centers, PD caregivers from Mexico (n = 148) and the United States (n = 105) completed measures of unmet family needs and mental health.

Fetal brain MRI findings and neonatal outcome of common diagnosis at a tertiary care center.

Unlabelled: Fetal Magnetic Resonance Imaging (MRI) is increasingly used in prenatal evaluations.

Objective: Identify common brain malformations on fetal MRI and evaluate perinatal course.

Methods: Fetal consultations from 10/2016 to 12/2017 reviewed.

Prenatal aqueduct stenosis: Association with rhombencephalosynapsis and neonatal outcome.

Background And Purpose: To examine prenatal MRI and postnatal imaging in fetuses with congenital aqueductal stenosis (CAS) to determine the frequency of association of rhombencephalosynapsis (RES) and how it may affect neonatal intensive care unit (NICU) course.

Materials And Methods: A single center IRB-approved retrospective study of children with CAS was performed. Prenatal MRI, postnatal images, and clinical data were reviewed.

Congenital aqueduct stenosis: Progressive brain findings in utero to birth in the presence of severe hydrocephalus.

Purpose: To evaluate the effects of progressive hydrocephalus on the developing brain in a cohort of fetuses diagnosed with congenital aqueduct stenosis by comparing prenatal magnetic resonance imaging and postnatal imaging.

Methods: This IRB approved single center retrospective review of prenatally diagnosed children with congenital aqueduct stenosis interrogated changes in the brain between prenatal and postnatal imaging and analyzed statistics using SAS software package version 9.3.

Human Interactomics: Comparative Analysis of Different Protein Interaction Resources and Construction of a Cancer Protein-Drug Bipartite Network.

Unraveling the protein interaction wiring that occurs in human cells as a scaffold of biological processes requires the identification of all elements that constitute such molecular interaction networks. Proteome-wide experimental studies and bioinformatic comprehensive efforts have provided reliable and updated compendiums of the human protein interactome. In this work, we present a current view of available databases of human protein-protein interactions (PPIs) that allow building protein interaction networks.

Individuals with agenesis of the corpus callosum show sensory processing differences as measured by the sensory profile.

Objective: Given reports of high pain thresholds and reduced auditory response in individuals with agenesis of the corpus callosum (AgCC), this study investigated whether affected participants report atypical experiences and behaviors on a well-established sensory processing measure.

Methods: Fourteen participants with AgCC (ages 11-59) completed the Adolescent/Adult Sensory Profile (Brown & Dunn, 2001). Sensory profile scales were classified as "Atypical" if they were more than 1 standard deviation from the mean.

Children with autism show reduced somatosensory response: an MEG study.

The neural underpinnings of sensory processing differences in autism remain poorly understood. This prospective magnetoencephalography (MEG) study investigates whether children with autism show atypical cortical activity in the primary somatosensory cortex (S1) in comparison with matched controls. Tactile stimuli were clearly detectable, and painless taps were applied to the distal phalanx of the second (D2) and third (D3) fingers of the right and left hands.

NMR solution structure of the angiostatic peptide anginex.

Anginex, a designed peptide 33mer, is known to function both as an antiangiogenic and bactericidal agent. Solving the NMR solution structure of the peptide is key to understand better its structure-activity relationships and to design more bioactive peptides and peptide mimetics. However, structure elucidation of anginex has been elusive due to subunit exchange-induced resonance broadening.

Beta-sheet is the bioactive conformation of the anti-angiogenic anginex peptide.

Anginex is a designed peptide 33mer that functions as a cytokine-like agent to inhibit angiogenesis. Although this short linear peptide has been shown by NMR and CD to form a nascent beta-sheet conformation in solution, the actual bioactive structure formed upon binding to its receptor on the surface of endothelial cells could be quite different. By using a series of double-cysteine disulphide-bridged analogues, we provide evidence in the present study that the beta-sheet is in fact the bioactive conformation of anginex.